Iron Overload, Susceptibility To |
|
Elevated circulating hepcidin concentration, Elevated transferrin saturation, Increased circulati... |
OMIM:620121 |
Hemochromatosis, Type 5 |
|
Anemia, Abnormal circulating copper concentration, Elevated transferrin saturation, Abnormal circ... |
OMIM:615517 |
Iron Overload In Africa |
|
Elevated transferrin saturation |
OMIM:601195 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Elevated hepatic iron concentra... |
OMIM:206100 |
Genetic Hyperferritinemia Without Iron Overload |
|
Abnormal serum iron concentration, Abnormal transferrin saturation, Increased circulating ferriti... |
ORPHA:254704 |
Psychogenic Movement Disorders |
|
Gait disturbance |
ORPHA:71519 |
Benign Hereditary Chorea |
|
Gait disturbance |
ORPHA:1429 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Anemia, Elevated transferrin saturation, Sideroblastic anemia, Decreased mean corpuscular volume,... |
OMIM:205950 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anemia, Cirrhosis, Jaundice, Elevated hepatic transaminase, Erythroid hyperplasia, Hepatosplenome... |
OMIM:616860 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
Gracile Syndrome |
|
Cirrhosis, Decreased transferrin saturation, Hepatic steatosis, Increased circulating ferritin co... |
ORPHA:53693 |
Gracile Syndrome |
|
Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron, Cho... |
OMIM:603358 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Anemia, Elevated transferrin saturation, Poikilocytosis, Decreased mean corpuscular volume, Incre... |
OMIM:615234 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
Ataxia-Oculomotor Apraxia Type 1 |
|
Gait disturbance, Ataxia |
ORPHA:1168 |
Hemochromatosis, Neonatal |
|
Hepatic failure, Hepatic fibrosis, Abnormality of iron homeostasis, Cirrhosis, Hepatocellular nec... |
OMIM:231100 |
Idiopathic Copper-Associated Cirrhosis |
|
Cirrhosis, Decreased circulating ceruloplasmin concentration, Increased circulating copper concen... |
ORPHA:209919 |
Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
Neonatal Hemochromatosis |
|
Prolonged neonatal jaundice, Increased circulating ferritin concentration, Increased serum iron, ... |
ORPHA:446 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin |
ORPHA:231249 |
Delta-Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Microcytic anemia |
ORPHA:231237 |
Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Cirrhosis, Splenomegaly, Anemia, Elevated transferrin saturation, Elevated hepa... |
OMIM:613313 |
Hyperbilirubinemia, Shunt, Primary |
|
Hyperbilirubinemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of ina... |
OMIM:237800 |
X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Anemia, Abnormality of iron homeostasis, Splenomegaly |
ORPHA:75563 |
Anemia, Sideroblastic, 4 |
|
Abnormal erythrocyte morphology, Sideroblastic anemia |
OMIM:182170 |
Hemochromatosis Type 2 |
|
Abnormality of endocrine pancreas physiology, Abnormality of iron homeostasis, Elevated transferr... |
ORPHA:79230 |
African Iron Overload |
|
Hepatic fibrosis, Hepatitis, Elevated transferrin saturation, Hepatocellular carcinoma, Hepatic b... |
ORPHA:139507 |
Diamond-Blackfan Anemia 13 |
|
Normocytic anemia, Elevated red cell adenosine deaminase level |
OMIM:615909 |
Alpha-Thalassemia |
|
Anemia, Hemolytic anemia, Hypersplenism, Jaundice, Cholelithiasis, Abnormal hemoglobin, Splenomeg... |
ORPHA:846 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Anemia, Dysplastic erythropoesis, Reticulocytopenia, Anisopoikilocytosis, Decreased transferrin s... |
ORPHA:300298 |
Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Anemia, Steroid-responsive anemia |
OMIM:618312 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... |
ORPHA:2133 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic fibrosis, Hepatic failure, Increased total iron binding capacity, Hyperbilirubinemia, Jau... |
OMIM:616278 |
Atransferrinemia |
|
Abnormality of the liver, Atransferrinemia, Hypochromic anemia |
OMIM:209300 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Anemia, Congenital hemolytic anemia, Unconjugated hyperbilirubinemia, Elevated tran... |
ORPHA:766 |
Beta-Thalassemia |
|
Anemia, Abnormality of iron homeostasis, Hepatitis, Hepatomegaly, Cholelithiasis, Thrombocytopeni... |
ORPHA:848 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Cirrhosis, Abnormality of iron homeostasis, Decreased liver function, Abnormality... |
ORPHA:231222 |
Sickle Cell Anemia |
|
Hemolytic anemia, Unconjugated hyperbilirubinemia, Reticulocytosis, Persistence of hemoglobin F, ... |
ORPHA:232 |
Iron-Refractory Iron Deficiency Anemia |
|
Hypochromic microcytic anemia, Anisocytosis, Elevated circulating hepcidin concentration, Poikilo... |
OMIM:206200 |
Hemoglobin H Disease |
|
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly |
OMIM:613978 |
Autosomal Erythropoietic Protoporphyria |
|
Abnormal circulating porphyrin concentration, Cirrhosis, Decreased liver function, Cholelithiasis... |
ORPHA:79278 |
Peroxisome Biogenesis Disorder 8B |
|
Gait ataxia, Cerebellar vermis atrophy, Tip-toe gait, Brain atrophy, Optic atrophy, Elevated circ... |
OMIM:614877 |
Anemia, Sideroblastic, 1 |
|
Hypochromic microcytic anemia, Anemia of inadequate production, Sideroblastic anemia, Macrocytic ... |
OMIM:300751 |
Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
Chromosome 5Q Deletion Syndrome |
|
Anemia of inadequate production, Erythroid hypoplasia, Refractory macrocytic anemia |
OMIM:153550 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia |
ORPHA:231401 |
Protoporphyria, Erythropoietic, 2 |
|
Iron deficiency anemia, Increased erythrocyte protoporphyrin concentration |
OMIM:618015 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Null Syndrome |
|
Abnormality of peripheral nerve conduction, Abnormal cerebellum morphology, Optic atrophy, Inabil... |
ORPHA:280234 |
Mednik Syndrome |
|
Intrahepatic cholestasis, Decreased circulating ceruloplasmin concentration, Decreased circulatin... |
ORPHA:171851 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Hemochromatosis, Type 3 |
|
Cirrhosis, Anemia, Elevated transferrin saturation, Elevated hepatic transaminase, Lymphopenia, I... |
OMIM:604250 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Splenomegaly, Microcytic anemia, Hepatomegaly |
OMIM:618852 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Anemia, Sideroblastic, 5 |
|
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia |
OMIM:619523 |
Chronic Inflammatory Demyelinating Polyneuropathy |
|
Somatic sensory dysfunction, Abnormal nerve conduction velocity, Paresthesia, Motor conduction bl... |
ORPHA:2932 |
Aceruloplasminemia |
|
Gait ataxia, Chorea, Abnormal dentate nucleus morphology, Hepatic fibrosis, Cirrhosis, Acerulopla... |
ORPHA:48818 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Gait ataxia, Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decrea... |
OMIM:614895 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... |
OMIM:212050 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Cerebral cortical atrophy, Basal ganglia gliosis, Ventriculomegaly, Diffuse cerebral atrophy, Inc... |
OMIM:614946 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Gait ataxia, Onion bulb formation, Paresthesia, Hypertrophic nerve changes, Decreased motor nerve... |
OMIM:601098 |
Porphyria Cutanea Tarda |
|
Abnormal circulating porphyrin concentration, Periportal fibrosis, Decreased circulating hepcidin... |
ORPHA:101330 |
Spinocerebellar Ataxia Type 43 |
|
Gait ataxia, Cerebellar vermis atrophy, Limb ataxia, Unsteady gait, Peripheral axonal neuropathy,... |
ORPHA:497764 |
Hemochromatosis, Type 4 |
|
Cirrhosis, Anemia, Elevated transferrin saturation, Hepatic steatosis, Increased circulating ferr... |
OMIM:606069 |
Hemochromatosis, Type 2A |
|
Cirrhosis, Increased serum iron, Increased circulating ferritin concentration, Hepatomegaly, Sple... |
OMIM:602390 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Abnormal cardiac septum morphology |
ORPHA:3319 |
Protoporphyria, Erythropoietic, X-Linked |
|
Iron deficiency anemia, Increased erythrocyte protoporphyrin concentration, Elevated hepatic tran... |
OMIM:300752 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Hepatic steatosis, Hepatomegaly, Pan... |
OMIM:618805 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Sterile abscess, Pancytopenia, Hepatosplenomegaly, Elevated circulating C-reactive protein concen... |
OMIM:604416 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Somatic sensory dysfunction, Motor conduction block, Diffuse peripheral demyelination, Axonal los... |
ORPHA:206594 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio |
OMIM:300448 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Hepatomeg... |
OMIM:615631 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Chorea, Cerebral cortical atrophy, Inability to walk, Axonal loss, Ataxia, Cerebral atrophy, Cere... |
OMIM:617672 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... |
ORPHA:251380 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Degeneration of ante... |
OMIM:604484 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Abnormal motor neuron morp... |
DECIPHER:29 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Decreased number of peripheral myelinated nerve fibers, Impaired distal vibration sensation, Onio... |
OMIM:145900 |
Majeed Syndrome |
|
Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Anemia of inadequat... |
OMIM:609628 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Jaundice, Reticulocytosis, Cholelithiasis, Anemia of inadequate production, Splenomegaly |
OMIM:224100 |
Refractory Celiac Disease |
|
Normocytic anemia, Hypophosphatemia, Elevated hepatic transaminase, Abnormal spleen physiology, I... |
ORPHA:398063 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ... |
OMIM:214400 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Chronic axonal neuropathy, Axonal loss, Peripheral axonal degeneration, Impaired tactile sensatio... |
ORPHA:101097 |
Zinc Deficiency, Transient Neonatal |
|
Decreased serum zinc |
OMIM:608118 |
Charcot-Marie-Tooth Disease, Dominant Intermediate F |
|
Onion bulb formation, Axonal regeneration, Impaired pain sensation, Steppage gait, Impaired vibra... |
OMIM:615185 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
|
Onion bulb formation, Segmental peripheral demyelination, Difficulty walking, Steppage gait, Axon... |
OMIM:606483 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Hyperbilirubinemia, Jaundice, Reticulocytosis, Cholecystitis, Cholelithiasis, ... |
OMIM:235700 |
Dehydrated Hereditary Stomatocytosis |
|
Increased total bilirubin, Increased mean corpuscular hemoglobin concentration, Intermittent jaun... |
ORPHA:3202 |
Aceruloplasminemia |
|
Anemia, Decreased serum iron, Aceruloplasminemia, Increased circulating ferritin concentration |
OMIM:604290 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
Charcot-Marie-Tooth Disease Type 4G |
|
Motor conduction block, Gait imbalance, Decreased motor nerve conduction velocity, Demyelinating ... |
ORPHA:99953 |
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies |
|
Progressive gait ataxia, Demyelinating sensory neuropathy, Acroparesthesia, Symmetrical progressi... |
ORPHA:208981 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Lateral ventricle dilatation, Axonal loss, Gait disturbance, Gliosis, Caudate atrophy, Cerebral a... |
OMIM:221770 |
Spinocerebellar Ataxia Type 25 |
|
Gait ataxia, Decreased number of large peripheral myelinated nerve fibers, Impaired distal tactil... |
ORPHA:101111 |
Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Impaired distal vibration sensation, Onion bulb formation, Impaired pain sensation, Decreased com... |
OMIM:618279 |
Congenital Disorder Of Glycosylation, Type Iiq |
|
Decreased circulating ceruloplasmin concentration, Elevated hepatic transaminase, Decreased circu... |
OMIM:617395 |
Refractory Anemia |
|
Neutropenia, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytopenia, Anemia... |
ORPHA:98826 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Impaired vibration sensation in the lower limbs, Pigmentary retinopathy, Rod-cone dystrophy, Opti... |
OMIM:609033 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Axonal degeneration... |
OMIM:606482 |
Glutamate Formiminotransferase Deficiency |
|
Megaloblastic anemia, Hypersegmentation of neutrophil nuclei, Positive ferric chloride test |
OMIM:229100 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Onion bulb formation, Rod-cone dystrophy, Optic atrophy, Gait disturbance, Distal sensory impairm... |
OMIM:311070 |
Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt... |
ORPHA:75564 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ... |
OMIM:118200 |
Cog2-Cdg |
|
Decreased liver function, Decreased circulating ceruloplasmin concentration, Decreased circulatin... |
ORPHA:435934 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... |
OMIM:607734 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic steatosis, Hypertriglyceridemia, Micro... |
OMIM:619013 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Gait ataxia, Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypert... |
OMIM:180800 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Anemia, Reticulocytosis, Hepatomegaly |
OMIM:613977 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Hyper... |
OMIM:616689 |
Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... |
OMIM:118210 |
Irida Syndrome |
|
Intrahepatic cholestasis, Decreased circulating copper concentration |
ORPHA:209981 |
Hypermanganesemia With Dystonia 1 |
|
Hypermanganesemia, Cirrhosis, Increased total iron binding capacity, Unconjugated hyperbilirubine... |
OMIM:613280 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ... |
OMIM:118220 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Onion bulb formation, Steppage gait, Decreased number of large peripheral myelinated nerve fibers... |
OMIM:608340 |
Charcot-Marie-Tooth Disease, Recessive Intermediate D |
|
Onion bulb formation, Distal sensory impairment, Steppage gait |
OMIM:616039 |
Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Somatic sensory dysfunction, Decreased motor nerve conduction velocity, Mildly elevated creatine ... |
OMIM:615376 |
Intrinsic Factor Deficiency |
|
Reduced haptoglobin level, Megaloblastic anemia, Increased RBC distribution width, Increased mean... |
OMIM:261000 |
Charcot-Marie-Tooth Disease, Type 4H |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... |
OMIM:609311 |
Neuromyelitis Optica Spectrum Disorder |
|
Somatic sensory dysfunction, Myelitis, Neuronal loss in central nervous system, Optic neuritis, P... |
ORPHA:71211 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyseryth... |
OMIM:224120 |
Acute Inflammatory Demyelinating Polyradiculoneuropathy |
|
Gait ataxia, Acute demyelinating polyneuropathy, Onion bulb formation, Dysesthesia, Unsteady gait |
ORPHA:98916 |
Reticuloendotheliosis, X-Linked |
|
Jaundice, Anemia, Hepatosplenomegaly |
OMIM:312500 |
Congenital Cataracts, Hearing Loss, And Neurodegeneration |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration |
OMIM:614482 |
Diamond-Blackfan Anemia 3 |
|
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
Hyperzincemia With Functional Zinc Depletion |
|
Hepatomegaly, Increased serum zinc |
OMIM:601979 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anemia, Increased total iron binding capacity, Hyperbilirubinemia, Elevated hepatic transaminase,... |
ORPHA:98870 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Poikilocytosis, Anisocytosis, Hypochromic anemia, Macrothrombocytopenia, Anemia of inadequate pro... |
ORPHA:67044 |
Copper Deficiency, Familial Benign |
|
Anemia, Decreased circulating copper concentration |
OMIM:121270 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Gait ataxia, Somatic sensory dysfunction, Truncal ataxia, Limb ataxia, Impaired proprioception, A... |
ORPHA:95434 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Gait ataxia, Chorea, Impaired distal vibration sensation, Axonal degeneration, Truncal ataxia, Pe... |
OMIM:208920 |
Charcot-Marie-Tooth Disease, Axonal, Type 2H |
|
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration, Distal sensory impai... |
OMIM:607731 |
Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration, Distal ... |
OMIM:607677 |
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic anemia, Macrocytic dyserythropoietic anemia |
OMIM:619789 |
Niemann-Pick Disease, Type A |
|
Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, Elevated cir... |
OMIM:257200 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Reduced haptoglobin level, Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated re... |
OMIM:613673 |
Spastic Paraplegia 55, Autosomal Recessive |
|
Impaired distal vibration sensation, Onion bulb formation, Optic atrophy, Impaired distal tactile... |
OMIM:615035 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Axonal degeneration, Segmental peripheral demyelination, Peripheral axonal degeneration, Decrease... |
OMIM:601596 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume |
OMIM:252270 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Dilated fourth ventricle, Cerebellar vermis atrophy, Choreoathetosis, Ataxia, Elevated circulatin... |
OMIM:619054 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers, Impaired distal vibration sensation, Onio... |
OMIM:607706 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Retinopathy, Optic atrophy, Ataxia, Cerebral atrophy, Cerebellar atrophy, Neurodegeneration, Pigm... |
OMIM:610951 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Impaired distal vibration sensation, Onion bulb formation, Decreased motor nerve conduction veloc... |
OMIM:610100 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Anemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Hypertriglyceridemia |
OMIM:608898 |
Methionine Adenosyltransferase I/Iii Deficiency |
|
Hypermethioninemia, CNS demyelination, Peripheral demyelination |
OMIM:250850 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hemolytic anemia, Normochromic anemia |
OMIM:245900 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... |
OMIM:604563 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Optic atrophy, Decr... |
OMIM:609260 |
Spinocerebellar Ataxia Type 27 |
|
Gait ataxia, Akinesia, Truncal ataxia, Limb ataxia, Gait disturbance, Difficulty walking |
ORPHA:98764 |
Tangier Disease |
|
Splenomegaly, Facial diplegia, Impaired pain sensation, Impaired temperature sensation, Periphera... |
OMIM:205400 |
Abetalipoproteinemia |
|
Retinopathy, Retinal degeneration, CNS demyelination, Ataxia, Abetalipoproteinemia, Peripheral de... |
OMIM:200100 |
Krabbe Disease |
|
Optic atrophy, CNS demyelination, Hydrocephalus, Diffuse cerebral atrophy, Decreased nerve conduc... |
OMIM:245200 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Hepatomegaly, Thrombocytopen... |
OMIM:133180 |
Familial Benign Copper Deficiency |
|
Anemia, Decreased circulating copper concentration |
ORPHA:1551 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... |
OMIM:619041 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Gait disturbance, Decreased nerve conduction velocity, Distal sensory impairment, Peripheral demy... |
ORPHA:99944 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Chorea, Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Ataxia, Periph... |
OMIM:604168 |
Spastic Ataxia, Charlevoix-Saguenay Type |
|
Impaired vibration sensation in the lower limbs, Cerebellar vermis atrophy, Loss of Purkinje cell... |
OMIM:270550 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pappenheimer bodies, Sideroblastic anemia, Erythroid hyperplasia, Increased circulating ferritin ... |
OMIM:600462 |
Charcot-Marie-Tooth Disease, Type 4J |
|
Onion bulb formation, Axonal loss, Decreased motor nerve conduction velocity, Gait disturbance, P... |
OMIM:611228 |
Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Axonal degeneration/regeneration, Distal sensory impairment, Peripheral demyelination, Steppage gait |
OMIM:607736 |
Anemia, Congenital Dyserythropoietic, Type Iiia |
|
Reduced haptoglobin level, Jaundice, Macrocytic anemia, Anemia of inadequate production, Congenit... |
OMIM:105600 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... |
OMIM:605588 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Gait ataxia, Dilated fourth ventricle, Cerebellar vermis atrophy, Cerebellar hypoplasia, Limb ata... |
OMIM:213200 |
Multiple Sulfatase Deficiency |
|
Splenomegaly, Ventriculomegaly, Retinal degeneration, Hydrocephalus, CNS demyelination, Ataxia, C... |
OMIM:272200 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology |
ORPHA:3032 |
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Abnormal circulating creatine kinase concentration, Abnormal circulating copper concentration |
ORPHA:521411 |
Charcot-Marie-Tooth Disease, Type 4K |
|
Difficulty walking, Peripheral demyelination, Ataxia, Axonal loss |
OMIM:616684 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Truncal ataxia, Hydrocephalus, Partial absence of cerebellar vermis, Ag... |
OMIM:220200 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Cirrhosis, Abnormality of iron homeostasis, Elevated transferrin saturation, Cholangiocarcinoma, ... |
ORPHA:465508 |
Hepatoportal Sclerosis |
|
Leukopenia, Anemia, Nodular regenerative hyperplasia of liver, Abnormal liver parenchyma morpholo... |
ORPHA:64743 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Ballooning hepatoc... |
OMIM:603471 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Hand paresthesia, Hypoesthesia, Segmental peripheral d... |
OMIM:162500 |
Hemochromatosis, Type 1 |
|
Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Increased circu... |
OMIM:235200 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Tip-toe gait, Axona... |
OMIM:302800 |
Neuropathy, Congenital Hypomyelinating, 2 |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Inability to walk, ... |
OMIM:618184 |
Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Decreased amplitude of sensory action potentials, Decreased number of large peripheral myelinated... |
OMIM:608673 |
Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Impaired distal vibration sensation, Onion bulb formation, Decreased motor nerve conduction veloc... |
OMIM:607684 |
Paraparetic Variant Of Guillain-Barré Syndrome |
|
Impaired distal proprioception, Peripheral axonal neuropathy, Peripheral demyelination |
ORPHA:231445 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Elevated circulating amyloid A, Elevated circulating C-reactive protein concentration, Microcytic... |
OMIM:619750 |
Charcot-Marie-Tooth Disease, Dominant Intermediate D |
|
Axonal degeneration/regeneration, Distal sensory impairment, Segmental peripheral demyelination/r... |
OMIM:607791 |
Familial Pseudohyperkalemia |
|
Stomatocytosis, Hyperkalemia, Reticulocytosis, Episodic hemolytic anemia, Increased mean corpuscu... |
ORPHA:90044 |
Megaloblastic Anemia, Folate-Responsive |
|
Hyperbilirubinemia, Hyperhomocystinemia, Episodic hemolytic anemia, Schistocytosis, Increased cir... |
OMIM:601775 |
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Elevated circulating alanine aminotransferase concentration, Cerebral cortical atrophy, Cerebella... |
OMIM:271245 |
Diamond-Blackfan Anemia 12 |
|
Elevated red cell adenosine deaminase level, Macrocytic anemia, Reticulocytopenia, Normochromic a... |
OMIM:615550 |
Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Gait ataxia, Decreased nerve conduction velocity, Peripheral demyelination, CNS demyelination |
OMIM:249900 |
Adult Krabbe Disease |
|
Somatic sensory dysfunction, Impaired tactile sensation, CNS demyelination, Gait disturbance, Ata... |
ORPHA:206448 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Hyperhomocystinemia, Lymphopenia, Pancytopenia, Thrombocytosis, Macrocytic ... |
OMIM:617780 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Gait imbalance, Falls, Akinesia, Freezing of gait, Short stepped shuffling gait, Loss of ambulati... |
ORPHA:240094 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Dilated fourth ventricle, Cerebellar dysplasia, Elongated superior cerebellar peduncle, Retinal a... |
ORPHA:370022 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Abnormal cerebellum morphology, Leukodystrophy, Ataxia, Symmetric peripheral demyelination, Glios... |
OMIM:169500 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased motor nerve conduction velocity, Axonal regeneration, Peripheral hypomyelination, Diffi... |
OMIM:605285 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Hypochromic microcytic anemia, Sideroblastic anemia |
OMIM:301310 |
Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Pancytopenia, Abnormality of neutr... |
ORPHA:2585 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Macrocytic anemia... |
OMIM:300946 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Decreased number of peripheral myelinated nerve fibers, Somatic sensory dysfunction, Decreased mo... |
OMIM:600882 |
Charcot-Marie-Tooth Disease Type 2B1 |
|
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Motor axonal neuropa... |
ORPHA:98856 |
Trichohepatoenteric Syndrome 2 |
|
Cirrhosis, Decreased serum iron, Hepatomegaly, Chronic hepatitis |
OMIM:614602 |
3-Methylglutaconic Aciduria, Type V |
|
Elevated circulating alanine aminotransferase concentration, Normochromic microcytic anemia, Elev... |
OMIM:610198 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Elliptocytosis, Anemia of inadequate production, Hemolytic anemia |
OMIM:166910 |
Beta-Thalassemia Major |
|
Hepatic fibrosis, Cirrhosis, Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A... |
ORPHA:231214 |
Infantile Liver Failure Syndrome 1 |
|
Anemia, Elevated hepatic transaminase, Hepatic steatosis, Macrocytic anemia, Hepatomegaly, Acute ... |
OMIM:615438 |
Autosomal Spastic Paraplegia Type 58 |
|
Gait ataxia, Chorea, Spastic ataxia, Tip-toe gait, Dysmetria, Cerebral atrophy, Cerebellar atroph... |
ORPHA:397946 |
Dominant Beta-Thalassemia |
|
Hepatic fibrosis, Cirrhosis, Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A... |
ORPHA:231226 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Patent ductus arteriosus, Cirrhosis, Delayed myelination, Cerebral cortical atrophy, Microvesicul... |
OMIM:300868 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Megaloblastic anemia |
OMIM:243320 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Splenomegaly, Increased total iron binding capacity, Hyperglycinemia, Abnormality of the liver, J... |
ORPHA:309854 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Impaired vibration sensation in the lower limbs, Decreased number of peripheral myelinated nerve ... |
OMIM:604360 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Onion bulb formation, Axonal loss, Elevated circulating creatine kinase concentration, Steppage g... |
OMIM:614455 |
Mitochondrial Dna Depletion Syndrome 18 |
|
Microcytic anemia |
OMIM:618811 |
Formiminoglutamic Aciduria |
|
Anemia, Megaloblastic anemia, Abnormal circulating histidine concentration |
ORPHA:51208 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Mitral valve prolapse, Atrial septal defect, ... |
OMIM:612561 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
T-cell acute lymphoblastic leukemias, Pancytopenia, Increased mean corpuscular volume |
OMIM:620044 |
Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Onion bulb formation, Peripheral demyelination, Decreased nerve conduction velocity |
OMIM:608236 |
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Microcytic anemia, Hypochromic anemia |
OMIM:618451 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Leukopenia, Acute myeloid leukemia, Abnormality of neutrophil morphology, Erythroid hypoplasia, A... |
ORPHA:86841 |
Spastic Paraplegia With Neuropathy And Poikiloderma |
|
Onion bulb formation, Demyelinating motor neuropathy, Demyelinating sensory neuropathy |
OMIM:182815 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Onion bulb formation, Brain atrophy, Gait disturbance, Loss of ambulation, Decreased nerve conduc... |
OMIM:615284 |
Spinocerebellar Ataxia 1 |
|
Optic atrophy, Truncal ataxia, Spinocerebellar atrophy, Decreased motor nerve conduction velocity... |
OMIM:164400 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Retrocerebellar cyst, Dilated fourth ventricle, Gait ataxia, Dysdiadochokinesis, Inability to wal... |
OMIM:614831 |
Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Onion bulb formation, Axonal loss, Gait disturbance, Decreased nerve conduction velocity, Distal ... |
OMIM:601455 |
Boucher-Neuhauser Syndrome |
|
Gait ataxia, Retinal dystrophy, Ataxia, Chorioretinal dystrophy, Spinocerebellar atrophy, Cerebel... |
OMIM:215470 |
Spinocerebellar Ataxia Type 21 |
|
Gait ataxia, Progressive cerebellar ataxia, Akinesia |
ORPHA:98773 |
Atypical Juvenile Parkinsonism |
|
Gait ataxia, Shuffling gait, Inability to walk, Akinesia, Short stepped shuffling gait |
ORPHA:391411 |
Bone Marrow Failure Syndrome 6 |
|
Anemia, Lymphopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia |
OMIM:618849 |
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Unsteady gait, Tip-toe gait |
ORPHA:2386 |
East Syndrome |
|
Hyperaldosteronism, Inability to walk, Hypokalemia, Increased circulating renin level, Ataxia, Pe... |
ORPHA:199343 |
Blue Rubber Bleb Nevus |
|
Microcytic anemia |
ORPHA:1059 |
Spastic Ataxia 5, Autosomal Recessive |
|
Onion bulb formation, Spastic ataxia, Dysdiadochokinesis, Increased intramyocellular lipid drople... |
OMIM:614487 |
Pernicious Anemia |
|
Megaloblastic anemia |
OMIM:170900 |
Parkinson Disease 17 |
|
Akinesia |
OMIM:614203 |
Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Hypoplastic a... |
OMIM:159550 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Cirrhosis, Decreased circulating ceruloplasmin concentration, Elevated hepatic transaminase, Decr... |
OMIM:242150 |
Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Leukodystrophy, Peripheral demyelination |
DECIPHER:59 |
Spinocerebellar Ataxia 25 |
|
Decreased number of peripheral myelinated nerve fibers, Abolished vibration sense, Ataxia, Impair... |
OMIM:608703 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Charcot-Marie-Tooth Disease Type 1B |
|
Somatic sensory dysfunction, Elevated circulating creatine kinase concentration, Decreased nerve ... |
ORPHA:101082 |
Srd5A3-Cdg |
|
Elevated hepatic transaminase, Microcytic anemia |
ORPHA:324737 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Elevated hepatic transaminase, Microcytic anemia |
OMIM:612379 |
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Onion bulb formatio... |
OMIM:605253 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Pericarditis, Hepatomegaly, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Klippel-Trénaunay Syndrome |
|
Microcytic anemia, Hepatomegaly |
ORPHA:90308 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Highly elevated creatine kinase, Elevated circulating creatine kinase concentration, Hepatomegaly... |
OMIM:251900 |
Rh Deficiency Syndrome |
|
Stomatocytosis, Reduced haptoglobin level, Hemolytic anemia, Hyperbilirubinemia, Jaundice, Reticu... |
ORPHA:71275 |
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Impaired distal tactile sensation, Decreased number of peripheral myelinated nerve fibers, Impair... |
OMIM:607080 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Dilated fourth ventricle, Retinal dysplasia, Ataxia, Cerebellar vermis hypoplasia |
OMIM:615771 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Elevated circulating creatinine concentration, Peripheral demyelination |
OMIM:616733 |
Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Neutropenia, Macrocytic anemia, Reticulocytopenia |
OMIM:612527 |
Charcot-Marie-Tooth Disease Type 4A |
|
Impaired distal vibration sensation, Chronic axonal neuropathy, Motor conduction block, Inability... |
ORPHA:99948 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Leukopenia, Anemia, Hyperammonemia, Macrocytic anemia, Hepatomegaly, Thrombocytopenia, Pancreatitis |
ORPHA:27 |
Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology, Spastic gait |
OMIM:611637 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Decreased liver function, Thrombocytopenia, Sideroblastic anemia |
OMIM:617021 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anemia, Elliptocytosis, Decreased serum iron, Poikilocytosis, Decreased mean corpuscular volume, ... |
OMIM:616959 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Hypochromic microcytic anemia, Elevated circulating C-reactive protein concentration, Hepatomegaly |
OMIM:619423 |
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion |
|
Abnormal circulating calcium concentration |
ORPHA:140286 |
Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology, Gait imbalance, Spastic gait |
ORPHA:247604 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Irregular myelin loops, Distal sensory i... |
OMIM:601382 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Jaundice, Hepatomegaly, Exocrine pancreatic insufficiency, Anemia of inadequate production, Splen... |
OMIM:612714 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology |
OMIM:183020 |
Imerslund-Grasbeck Syndrome 2 |
|
Megaloblastic anemia |
OMIM:618882 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Elliptocytosis, Poikilocytosis, Anisocytosis, Macrocytic anemia, Thrombocytopenia, Neutropenia, A... |
OMIM:300835 |
Liver Disease, Severe Congenital |
|
Elevated hepatic transaminase, Portal inflammation, Elevated circulating alpha-fetoprotein concen... |
OMIM:619991 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology, Motor conduction block |
DECIPHER:31 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Pigmentary retinopathy, Optic atrophy, Methylmalonic acidemia, Retinal degeneration, Jaundice, Hy... |
ORPHA:79282 |
Metachromatic Leukodystrophy |
|
Chorea, Optic atrophy, Gait disturbance, Ataxia, Cholecystitis, Decreased nerve conduction veloci... |
OMIM:250100 |
Isolated Sedoheptulokinase Deficiency |
|
Anemia, Hepatitis, Hypochromic microcytic anemia, Cholestasis, Cholestatic liver disease, Portal ... |
ORPHA:440713 |
Breath-Holding Spells |
|
Iron deficiency anemia |
OMIM:607578 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis, Poikilocytosis |
OMIM:300367 |
Dilated Cardiomyopathy With Ataxia |
|
Normochromic microcytic anemia, Microvesicular hepatic steatosis, Elevated hepatic transaminase, ... |
ORPHA:66634 |
Trichohepatoenteric Syndrome 1 |
|
Hypermethioninemia, Splenomegaly, Hepatic fibrosis, Abnormality of iron homeostasis, Cirrhosis, H... |
OMIM:222470 |
Dermatitis Herpetiformis |
|
Microcytic anemia |
ORPHA:1656 |
Mitochondrial Dna Depletion Syndrome 19 |
|
Microcytic anemia |
OMIM:618972 |
Glycogen Storage Disease Xii |
|
Reduced haptoglobin level, Anemia, Elevated circulating alanine aminotransferase concentration, N... |
OMIM:611881 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Patent ductus arteriosus, Dilated fourth ventricle, Truncal ataxia, Hydrocephalus, Partial absenc... |
OMIM:220220 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Cerebral cortical atrophy, Optic atrophy, Dysdiadochokinesis, Atrophy/Degeneration affecting the ... |
ORPHA:171629 |
Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Abnormal lower motor neuron morphology |
OMIM:607641 |
Autoimmune Lymphoproliferative Syndrome |
|
Coombs-positive hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Increased... |
OMIM:601859 |
Wolfram Syndrome, Mitochondrial Form |
|
Thrombocytopenia, Sideroblastic anemia, Megaloblastic anemia, Neutropenia |
OMIM:598500 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Megaloblastic anemia, Methylmalonic acidemia, Normocytic anemia, Hyperhomocystinemia, Hypomethion... |
OMIM:236270 |
Plummer-Vinson Syndrome |
|
Hypochromic microcytic anemia, Iron deficiency anemia, Decreased circulating ferritin concentration |
ORPHA:54028 |
Acatalasemia |
|
Microcytic anemia |
ORPHA:926 |
Neuropathy, Hereditary Sensory, X-Linked |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:310470 |
Poretti-Boltshauser Syndrome |
|
Dilated fourth ventricle, Cerebellar dysplasia, Retinal thinning, Retinal atrophy, Cerebellar cys... |
OMIM:615960 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Decreased serum iron |
ORPHA:391372 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Inability to walk, Paucity of anterior horn motor neurons, Facial diplegia, Peripheral axonal neu... |
OMIM:611890 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Cranial nerve compression, Motor axonal neuropathy, Brain atrophy, Abnormal motor neuron morpholo... |
ORPHA:52430 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Optic atrophy, Dysdiadochokinesis, Atrophy/Degeneration affecting the brainstem, Ataxia, Dysmetri... |
OMIM:612319 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Sideroblastic anemia, Elevated hepatic transaminase, Hepatomegaly |
OMIM:613561 |
Pancreatic Colipase Deficiency |
|
Exocrine pancreatic insufficiency, Megaloblastic anemia, Cholelithiasis |
ORPHA:309108 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Jaundice, Reticulocytosis, Hepatomegaly, Sp... |
OMIM:185000 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
|
Abnormal lower motor neuron morphology, Difficulty walking, Waddling gait |
OMIM:611067 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
T lymphocytopenia, Neoplasm of the pancreas, Elevated hepatic transaminase, Hepatic steatosis, Mi... |
ORPHA:2959 |
Machado-Joseph Disease Type 3 |
|
Dilated fourth ventricle, Degeneration of anterior horn cells, Progressive gait ataxia, Substanti... |
ORPHA:276244 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Gait ataxia, Dilated fourth ventricle, Cerebellar vermis atrophy, Diffuse cerebral atrophy, Ataxi... |
ORPHA:1170 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Somatic sensory dysfunction, Tip-toe gait, Brain atrophy, Motor axonal neuropathy, Abnormal perip... |
ORPHA:466768 |
Spinocerebellar Ataxia 2 |
|
Dilated fourth ventricle, Rod-cone dystrophy, Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria,... |
OMIM:183090 |
Primary Lateral Sclerosis, Juvenile |
|
Cerebral cortical atrophy, Spastic gait, Loss of ambulation, Decreased compound muscle action pot... |
OMIM:606353 |
Charcot-Marie-Tooth Disease Type 1F |
|
Gait ataxia, Somatic sensory dysfunction, Paresthesia, Inability to walk, Limb ataxia, Decreased ... |
ORPHA:101085 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Megaloblastic anemia, Pancytopenia, Hepatomegaly, Increased mean corpuscular volume, Thrombocytop... |
OMIM:613839 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Anemia, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopat... |
OMIM:620135 |
Majeed Syndrome |
|
Hypochromic microcytic anemia, Leukocytosis, Hepatomegaly, Splenomegaly, Congenital hypoplastic a... |
ORPHA:77297 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Degeneration of anterior horn cells, Peripheral axonal degeneration, Abnormal lower motor neuron ... |
OMIM:602433 |
Pulmonary Hemosiderosis |
|
Iron deficiency anemia |
OMIM:178550 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers, Abnormal cerebellum morphology, Lateral v... |
OMIM:256850 |
Ataxia-Telangiectasia-Like Disorder |
|
Gait ataxia, Dilated fourth ventricle, Chorea, Dysdiadochokinesis, Ataxia, Dysmetria, Cerebellar ... |
ORPHA:251347 |
Osteopetrosis, Autosomal Recessive 5 |
|
Anemia, Hepatic failure, Hyperbilirubinemia, Hypocalcemia, Pancytopenia, Hepatosplenomegaly, Hypo... |
OMIM:259720 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Jaundice, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, S... |
OMIM:612690 |
Diamond-Blackfan Anemia 5 |
|
Erythroid hypoplasia, Leukopenia, Macrocytic anemia, Reticulocytopenia |
OMIM:612528 |
Congenital Myopathy 9A |
|
Akinesia |
OMIM:618822 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Ventriculomegaly, Axonal loss, Diffuse cerebral atrophy, Gliosis, Cerebral atrophy, Peripheral de... |
OMIM:252160 |
Primary Familial Polycythemia |
|
Abnormal hemoglobin, Polycythemia |
ORPHA:90042 |
Wt Limb-Blood Syndrome |
|
Thrombocytopenia, Leukemia, Pancytopenia, Hypoplastic anemia |
OMIM:194350 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Hyperbilirubinemia, Jaundice, Reticulocytosis, Splenomegaly, Acanthocytosis, Sp... |
OMIM:616649 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Fusion of the cerebellar hemispheres, Dilated fourth ventricle, Abnormal cerebellum morphology, V... |
ORPHA:370959 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Hyperbilirubinemia, Jaundice, Reticulocytosis, Splenomegaly, Spherocytosis |
OMIM:612653 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Gait ataxia, Impaired vibration sensation at ankles, Abnormality of peripheral nerve conduction, ... |
ORPHA:90103 |
Joubert Syndrome 6 |
|
Dilated fourth ventricle, Hepatic fibrosis, Enlarged fossa interpeduncularis, Elongated superior ... |
OMIM:610688 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Chronic axonal neuropathy, Hyperaldosteronism, Dysdiadochokinesis, Hypokalemia, Increased circula... |
OMIM:612780 |
Leukodystrophy, Hypomyelinating, 5 |
|
Onion bulb formation, Abnormal cerebellum morphology, Decreased motor nerve conduction velocity, ... |
OMIM:610532 |
Glutaric Acidemia I |
|
Delayed myelination, Lateral ventricle dilatation, Choreoathetosis, Hydrocephalus, Elevated circu... |
OMIM:231670 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Global brain atrophy, Abnormal lower motor neuron morphology, Gliosis, Degeneration of the latera... |
ORPHA:275872 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Hyperbilirubinemia, Jaundice, Reticulocytosis, Cholelithiasis, Splenomegaly, Sp... |
OMIM:182900 |
Immunodeficiency 89 And Autoimmunity |
|
Hypochromic microcytic anemia, Decreased eosinophil count, Elevated circulating C-reactive protei... |
OMIM:619632 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Freezing of gait, Akinesia |
OMIM:619911 |
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Hyperhomocystinemia, Megaloblastic anemia, Hypomethioninemia |
OMIM:250940 |
Ménétrier Disease |
|
Hypochromic microcytic anemia, Hypoproteinemia, Hypoalbuminemia |
ORPHA:2494 |
Immunodeficiency 47 |
|
Leukopenia, Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cirrho... |
OMIM:300972 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal mean corpuscular vol... |
ORPHA:86839 |
Syndromic Diarrhea |
|
Hepatic fibrosis, Cirrhosis, Abnormality of iron homeostasis, Abnormality of the liver, Hypoplasi... |
ORPHA:84064 |
Spinocerebellar Ataxia 21 |
|
Gait ataxia, Akinesia, Limb ataxia, Ataxia, Progressive cerebellar ataxia |
OMIM:607454 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Onion bulb formation, Ventriculomegaly, Inability to walk, Decreased motor nerve conduction veloc... |
OMIM:218000 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration, Decreased motor nerv... |
OMIM:607831 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Ventriculomegaly, Axonal loss, Gliosis, Cerebral atrophy, Peripheral demyelination, Hypouricemia |
OMIM:252150 |
Polyglucosan Body Neuropathy, Adult Form |
|
Paresthesia, Gait disturbance, Peripheral axonal neuropathy, Abnormal upper motor neuron morpholo... |
OMIM:263570 |
Hereditary Hemorrhagic Telangiectasia |
|
Hepatic failure, Cirrhosis, Cholecystitis, Portal hypertension, Cholelithiasis, Microcytic anemia |
ORPHA:774 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Intermittent jaundice, Hemolytic anemia, Abnormal mean corpuscular volume, Decrea... |
ORPHA:3203 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Demyelinating peripheral neuropathy, Myelin outfoldings, Ataxia, Peripheral hypomyelination, Cere... |
OMIM:609136 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Hyperalaninemia, Increased serum pyruvate, Macrocytic anemia, Hyperprolinemia, Splenomegaly |
OMIM:619046 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Machado-Joseph Disease |
|
Dilated fourth ventricle, Truncal ataxia, Limb ataxia, Ataxia, Gliosis, Cerebellar atrophy, Impai... |
OMIM:109150 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Iron deficiency anemia, Hypophosphatemia, Hypocalcemia, Tooth abscess |
ORPHA:89937 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
B lymphocytopenia, Sideroblastic anemia, Hypochromic microcytic anemia, Schistocytosis, Splenomegaly |
OMIM:616084 |
Peho Syndrome |
|
Cerebellar atrophy, Neuronal loss in central nervous system, Peripheral dysmyelination, Optic atr... |
OMIM:260565 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Neuronal loss in central nervous system, Abnormal lower motor neuron morphology, Amyotrophic late... |
OMIM:105550 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Difficulty walking, Elevat... |
OMIM:613954 |
Corticobasal Syndrome |
|
Gait disturbance, Akinesia |
ORPHA:454887 |
Wolcott-Rallison Syndrome |
|
Abnormality of the liver, Exocrine pancreatic insufficiency, Lymphocytosis, Hyperbilirubinemia, J... |
ORPHA:1667 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis |
OMIM:301083 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Hypochromic microcytic anemia, Anemia, Hyperalaninemia, Increased serum pyruvate |
OMIM:619147 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Retinal dystrophy, Ataxia, Difficulty walking, Cerebral atrophy, Delayed peripheral myelination, ... |
ORPHA:464282 |
H Syndrome |
|
Hypertriglyceridemia, Histiocytosis, Microcytic anemia, Hepatosplenomegaly |
ORPHA:168569 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Hypochromic microcytic anemia, Thrombocytopenia, Increased circulating ferritin concentration |
ORPHA:3240 |
Primary Lateral Sclerosis |
|
Somatic sensory dysfunction, Motor axonal neuropathy, Spastic gait, Cervical spinal cord atrophy,... |
ORPHA:35689 |
Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Anisopoikilocytosis, Abnormal hemoglobin concentration, Reticulocytosis, Pa... |
ORPHA:35858 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Motor axonal neuropathy, Optic atrophy, Gait disturbance, Ataxia, Elevated circulating creatine k... |
OMIM:614298 |
Pyridoxal Phosphate-Responsive Seizures |
|
Abnormal circulating threonine concentration, Pyridoxine-responsive sideroblastic anemia, Abnorma... |
ORPHA:79096 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased number of peripheral myelinated nerve fibers, Inability to walk, Decreased motor nerve ... |
OMIM:615490 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excision circle leve... |
OMIM:608203 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic fibrosis, Hepatic failure, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic ste... |
ORPHA:541423 |
Folate Malabsorption, Hereditary |
|
Leukopenia, Thrombocytopenia, Neutropenia, Folate-responsive megaloblastic anemia |
OMIM:229050 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Anemia, Elevated circulating creatine kinase concentration |
OMIM:618838 |
Diamond-Blackfan Anemia 11 |
|
Anemia, Anemia of inadequate production, Neutropenia |
OMIM:614900 |
Rh-Null, Regulator Type |
|
Stomatocytosis, Jaundice, Hemolytic anemia, Unconjugated hyperbilirubinemia |
OMIM:268150 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Inability to walk, Hepatosplenomegaly, Abnormal lower motor neuron morphology, Difficulty walking... |
ORPHA:2590 |
Trigeminal Neuralgia |
|
Somatic sensory dysfunction, Paresthesia, Cranial nerve compression, CNS demyelination, Periphera... |
ORPHA:221091 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Optic atrophy, Ataxia, Neuronal loss in central nervous system, Decreased nerve conduction veloci... |
OMIM:256600 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Coombs-positive hemolytic anemia, Neutropenia in presence of anti-neutrop... |
OMIM:603909 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral atrophy |
OMIM:105500 |
Charcot-Marie-Tooth Disease Type 4C |
|
Gait ataxia, Decreased number of peripheral myelinated nerve fibers, Impaired distal vibration se... |
ORPHA:99949 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Megaloblastic anemia, Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioninemia, Increased m... |
OMIM:277410 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Microcytic anemia |
ORPHA:293967 |
Arthrogryposis Multiplex Congenita 6 |
|
Akinesia |
OMIM:619334 |
Neuropathy, Hereditary Sensory, Type Ie |
|
Decreased number of peripheral myelinated nerve fibers, Cerebral atrophy, Ataxia |
OMIM:614116 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Anemia, Decreased plasma carnitine, Decreased serum iron, Abnormal circulating selenium concentra... |
ORPHA:89842 |
Leukocyte Adhesion Deficiency Type Ii |
|
Anemia, Neutrophilia, Leukocytosis, Hepatomegaly, Microcytic anemia |
ORPHA:99843 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Gait ataxia, Chorea, Hepatic failure, Hyperalaninemia, Rod-cone dystrophy, Optic atrophy, Demyeli... |
ORPHA:255210 |
Transcobalamin Ii Deficiency |
|
Reticulocytopenia, Pancytopenia, Erythroid hypoplasia, Macrocytic anemia, Hepatomegaly, Neutropenia |
OMIM:275350 |
Phosphoglycerate Dehydrogenase Deficiency |
|
Thrombocytopenia, Megaloblastic anemia |
OMIM:601815 |
Pearson Marrow-Pancreas Syndrome |
|
Anemia, Hepatic failure, Reticulocytopenia, Hyperbilirubinemia, Refractory sideroblastic anemia, ... |
OMIM:557000 |
Amyotrophic Lateral Sclerosis 21 |
|
Elevated circulating creatine kinase concentration, Abnormal lower motor neuron morphology, Decre... |
OMIM:606070 |
Triosephosphate Isomerase Deficiency |
|
Hemolytic anemia, Normocytic anemia, Jaundice, Chronic hemolytic anemia, Cholecystitis, Macrocyti... |
OMIM:615512 |
Vascular Malformation, Primary Intraosseous |
|
Hypochromic anemia |
OMIM:606893 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Splenomegaly, Decreased serum zinc, Hepatomegaly |
OMIM:201100 |
Wiskott-Aldrich Syndrome |
|
Anemia, Hypoplasia of the thymus, Hemolytic anemia, Abnormal eosinophil morphology, Lymphopenia, ... |
ORPHA:906 |
Elliptocytosis 3 |
|
Intermittent jaundice, Elliptocytosis, Decreased mean corpuscular volume, Chronic hemolytic anemi... |
OMIM:617948 |
Machado-Joseph Disease Type 1 |
|
Dilated fourth ventricle, Progressive gait ataxia, Substantia nigra gliosis, Cerebellar atrophy, ... |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Dilated fourth ventricle, Progressive gait ataxia, Substantia nigra gliosis, Cerebellar atrophy, ... |
ORPHA:276241 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Anemia, Elevated circulating alanine aminotransferase concentration, Prolonged neonatal jaundice,... |
OMIM:619525 |
Methylcobalamin Deficiency Type Cble |
|
Abnormality of the liver, Hyperhomocystinemia, Hypomethioninemia, Pancytopenia, Macrocytic anemia... |
ORPHA:2169 |
Somatostatinoma |
|
Intermittent jaundice, Extrahepatic cholestasis, Neoplasm of the pancreas, Intrahepatic cholestas... |
ORPHA:97283 |
Barth Syndrome |
|
Hypochromic microcytic anemia, Neutropenia, Cyclic neutropenia, Granulocytopenia |
OMIM:302060 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioninemia, Elevated circulating propionylcar... |
OMIM:614857 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Impaired vibration sensation in the lower limbs, Decreased number of peripheral myelinated nerve ... |
ORPHA:320406 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly |
OMIM:617441 |
Lethal Congenital Contracture Syndrome 2 |
|
Akinesia |
OMIM:607598 |
Imerslund-Grasbeck Syndrome 1 |
|
Megaloblastic anemia |
OMIM:261100 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... |
ORPHA:98849 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Cirrhosis, Hyperalaninemia, Paresthesia, Decreased motor nerve conduction velocity, Demyelinating... |
ORPHA:298 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Gait ataxia, Shuffling gait, Dysdiadochokinesis, Akinesia, Ataxia |
ORPHA:247234 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Inability to walk, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:613443 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Cerebral cortical atrophy, Amyotrophic lateral sclerosis |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Cerebral cortical atrophy, Amyotrophic lateral sclerosis |
OMIM:616437 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Chronic axonal neuropathy, Decreased motor nerve conduction velocity, Impaired distal tactile sen... |
OMIM:162400 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Hypersegmentation of neutrophil nuclei, Macrocytic anemia |
OMIM:615578 |
Hamamy Syndrome |
|
Microcytic anemia, Hypochromic anemia |
OMIM:611174 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Thrombocytopenia, Sideroblastic anemia, Thiamine-responsive megaloblastic anemia |
OMIM:249270 |
Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Hepatocellular carcinoma, Hepatic steatosis, H... |
OMIM:277900 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Dilated fourth ventricle, Delayed myelination, Rod-cone dystrophy, Ventriculomegaly, Lateral vent... |
ORPHA:572798 |
Attrv122I Amyloidosis |
|
Anemia, Restrictive cardiomyopathy, Left ventricular hypertrophy, Increased circulating NT-proBNP... |
ORPHA:85451 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Anemia, Hypoproteinemia, Thrombocytosis, Hepatomegaly, Iron deficiency anemia, Hypoalbuminemia |
OMIM:226300 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Dilated fourth ventricle, Hepatic fibrosis, Rod-cone dystrophy, Cerebellar hypoplasia, Elevated h... |
OMIM:212065 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Decreased number of peripheral myelinated nerve fibers, Optic atrophy, Inability to walk, Ataxia,... |
ORPHA:254930 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Patent ductus arteriosus, Dilated fourth ventricle, Cerebellar dysplasia, Lateral ventricle dilat... |
OMIM:617751 |
Diamond-Blackfan Anemia 7 |
|
Ventricular septal defect, Secundum atrial septal defect, Tetralogy of Fallot, Macrocytic anemia,... |
OMIM:612562 |
Elliptocytosis 2 |
|
Elliptocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis |
OMIM:130600 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Hepatocellular carcinoma, Hepatic steatosis, Pain insensitivity, Hepatomegaly, Decreased number o... |
OMIM:256810 |
Cockayne Syndrome A |
|
Pigmentary retinopathy, Patchy demyelination of subcortical white matter, Normal pressure hydroce... |
OMIM:216400 |
Blue Rubber Bleb Nevus |
|
Iron deficiency anemia, Thrombocytopenia, Abnormality of the liver |
OMIM:112200 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Delayed myelination, Tip-toe gait, Ventriculomegaly, Falls, Leukodystrophy, Hyperbilirubinemia, H... |
OMIM:619475 |
Neuromuscular Oculoauditory Syndrome |
|
Decreased amplitude of sensory action potentials, Retinal pigment epithelial mottling, Elevated c... |
OMIM:618733 |
Kufor-Rakeb Syndrome |
|
Ataxia, Gait disturbance, Akinesia |
OMIM:606693 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Gait imbalance, Falls, Akinesia |
ORPHA:240071 |
Myopathy With Lactic Acidosis, Hereditary |
|
Leukopenia, Anemia, Sideroblastic anemia, Increased intramyocellular lipid droplets, Elevated cir... |
OMIM:255125 |
Manganese Poisoning |
|
Gait disturbance, Akinesia |
ORPHA:306682 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Brain atrophy, Optic atrophy, Lateral ventricle dilatation, Cerebellar ... |
ORPHA:3078 |
Acute Monoblastic/Monocytic Leukemia |
|
Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia |
ORPHA:514 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Microvesicular hepatic steatosis, Truncal ataxia, CNS demyelination, Ataxia, Dysmetria, Hyperammo... |
OMIM:220111 |
Orotic Aciduria |
|
Pyrimidine-responsive megaloblastic anemia, Poikilocytosis, Anisocytosis, Folate-unresponsive meg... |
OMIM:258900 |
Pseudo-Torch Syndrome 3 |
|
Anemia, Increased circulating ferritin concentration, Leukocytosis, Cardiomegaly, Congenital thro... |
OMIM:618886 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:602099 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Truncal ataxia, Choreoathetosis, Akinesia |
OMIM:618249 |
Perry Syndrome |
|
Short stepped shuffling gait, Akinesia |
OMIM:168605 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Dilated fourth ventricle, Inability to walk, Abnormal cerebellar vermis morphology, Cerebellar ma... |
ORPHA:357058 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Anemia, Megaloblastic anemia, Cystathioninemia, Methylmalonic acidemia, Hyperhomocystinemia, Panc... |
OMIM:277380 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Abnormal erythrocyte morphology, Folate-unresponsive megaloblastic anemia, Megaloblastic anemia |
ORPHA:2575 |
Shwachman-Diamond Syndrome |
|
Pancreatic hypoplasia, Acute myeloid leukemia, Chronic neutropenia, Leukopenia, Anemia, Neutropen... |
ORPHA:811 |
Immunodeficiency 96 |
|
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells |
OMIM:619774 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Reduced haptoglobin level, Leukopenia, Anemia, Hemolytic anemia, Unconjugated hyperbilirubinemia,... |
ORPHA:447 |
Blackfan-Diamond Anemia |
|
Acute myeloid leukemia, Leukopenia, Ventricular septal defect, Reticulocytopenia, Pure red cell a... |
ORPHA:124 |
Late-Onset Isolated Acth Deficiency |
|
Hyperuricemia, Hepatitis, Normocytic anemia, Hyperkalemia, Hypercalcemia, Macrocytic anemia, Eosi... |
ORPHA:199299 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Thrombocytopenia, Cholelithiasis, Normochromic anemia, Elevated circulating creatine kinase conce... |
OMIM:618775 |
Lysinuric Protein Intolerance |
|
Elevated hepatic transaminase, Hepatosplenomegaly, Hepatomegaly, Hypercholesterolemia, Thrombocyt... |
ORPHA:470 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Thrombocytopenia, Megaloblastic anemia |
ORPHA:49827 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Akinesia |
OMIM:300894 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Mildly elevated creatine kinase, Abnormal anterior horn cell morphology, Degeneration of anterior... |
ORPHA:1145 |
Mevalonic Aciduria |
|
Anemia, Elevated hepatic transaminase, Hepatosplenomegaly, Elevated circulating creatine kinase c... |
OMIM:610377 |
Slc39A8-Cdg |
|
Hypomanganesemia, Abnormality of the liver, Abnormal blood zinc concentration |
ORPHA:468699 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Atrial septal defect, Persistence of hemoglobin F |
OMIM:619769 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Abnormality of peripheral nerve conduction, Abnormality of peripheral nerves, Steppage gait, Abno... |
ORPHA:168563 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Abnormal motor neuron morphology |
OMIM:613724 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Iron deficiency anemia, Hepatomegaly |
OMIM:607906 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Elevated circulating C-re... |
OMIM:256040 |
Medullary Thyroid Carcinoma |
|
Abnormal liver parenchyma morphology |
ORPHA:1332 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Tip-toe gait, Spastic gait, Ataxia, Abnormal lower motor neuron morphology, Difficulty walking, A... |
OMIM:205100 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Megaloblastic anemia, Hyperhomocystinemia, Elevated circulating palmitoleylcarnitine concentratio... |
ORPHA:79284 |
Neurodevelopmental Disorder With Poor Growth, Spastic Tetraplegia, And Hearing Loss |
|
Macrocytic anemia |
OMIM:620071 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Akinesia |
OMIM:616840 |
Lissencephaly Due To Tuba1A Mutation |
|
Dilated fourth ventricle, Optic nerve hypoplasia, Ventriculomegaly, Cerebellar vermis hypoplasia |
ORPHA:171680 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio |
OMIM:301040 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Nodular regenerative hyperplasia of liver, Normocytic anemia, Abnormality of the hepatic vasculat... |
ORPHA:247691 |
Cockayne Syndrome B |
|
Pigmentary retinopathy, Patchy demyelination of subcortical white matter, Normal pressure hydroce... |
OMIM:133540 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hyperechogenic pancreas, Hepatomegaly, Exocrine pancreatic insufficiency, Thro... |
OMIM:617941 |
Sickle Cell Disease |
|
Splenomegaly, Hemolytic anemia, Target cells, Splenic infarction, Leukocytosis, Hepatomegaly, Car... |
OMIM:603903 |
Idiopathic Pulmonary Hemosiderosis |
|
Iron deficiency anemia, Hepatomegaly, Hepatosplenomegaly |
ORPHA:99931 |
Congenital Myopathy 12 |
|
Akinesia |
OMIM:612540 |
Monosomy 22 |
|
Hypochromic microcytic anemia, Aplasia of the thymus, Hepatosplenomegaly |
ORPHA:96123 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Iron deficiency anemia, Decreased serum thromboxane B2, Abnormal circulating eicosanoid concentra... |
OMIM:618372 |
Narcolepsy 3 |
|
Narcolepsy |
OMIM:609039 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Asplenia, Cirrhosis, Hepatitis, Exocrine pancreatic insufficiency, Chronic hepatitis, Iron defici... |
OMIM:269200 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Leukopenia, Anemia, Lymphopenia, Increased mean corpuscular volume, Thrombocytopenia, Aplastic an... |
OMIM:127550 |
Meckel Syndrome, Type 10 |
|
Dilated fourth ventricle, Malformation of the hepatic ductal plate, Dandy-Walker malformation, Ce... |
OMIM:614175 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Gait ataxia, Spastic gait, Abnormal upper motor neuron morphology, Gait disturbance, Impaired vib... |
OMIM:601162 |
Fetal Akinesia Deformation Sequence |
|
Akinesia |
ORPHA:994 |
16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Thrombocytopenia, Ventricular septal defect, Dilated cardiomyo... |
ORPHA:261250 |
Vexas Syndrome |
|
Thrombocytopenia, Elevated circulating C-reactive protein concentration, Macrocytic anemia |
OMIM:301054 |
Multiple Pterygium Syndrome, Lethal Type |
|
Akinesia |
OMIM:253290 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Wolfram Syndrome 1 |
|
Thrombocytopenia, Sideroblastic anemia, Megaloblastic anemia |
OMIM:222300 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Thrombocytopenia, High nonceruloplasmin-bound serum copper |
ORPHA:457351 |
Celiac Disease, Susceptibility To, 1 |
|
Elevated hepatic transaminase, Thrombocytosis, Macrocytic anemia, Iron deficiency anemia, Hypocal... |
OMIM:212750 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Akinesia |
OMIM:225790 |
Narcolepsy 1 |
|
Narcolepsy |
OMIM:161400 |
Jervell And Lange-Nielsen Syndrome |
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Iron deficiency anemia |
ORPHA:90647 |
Shwachman-Diamond Syndrome 1 |
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Acute myeloid leukemia, Anemia, Pancytopenia, Persistence of hemoglobin F, Myocardial necrosis, H... |
OMIM:260400 |
Spastic Paralysis, Infantile-Onset Ascending |
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Abnormal lower motor neuron morphology |
OMIM:607225 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
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Decreased prealbumin level, Hepatitis, Neutropenia in presence of anti-neutropil antibodies, Elev... |
ORPHA:37042 |
Vipoma |
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Intermittent jaundice, Extrahepatic cholestasis, Hypokalemia, Neoplasm of the pancreas, Neoplasm ... |
ORPHA:97282 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
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Persistence of hemoglobin F |
OMIM:617101 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
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Decreased number of peripheral myelinated nerve fibers, Syringomyelia, Decreased nerve conduction... |
ORPHA:477817 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
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Granulocytopenia, Macrocytic anemia |
OMIM:606164 |
Autosomal Dominant Cerebellar Ataxia |
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Progressive cerebellar ataxia, Choreoathetosis, Gait disturbance, Akinesia |
ORPHA:99 |
Postencephalitic Parkinsonism |
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Akinesia |
ORPHA:97349 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
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HbH hemoglobin, Elevated amniotic fluid alpha-fetoprotein |
ORPHA:423479 |
Hereditary Sensory And Autonomic Neuropathy Type 5 |
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Decreased number of small peripheral myelinated nerve fibers, Pain insensitivity, Impaired temper... |
ORPHA:64752 |
Zaki Syndrome |
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Patent ductus arteriosus, Dilated fourth ventricle, Spastic gait, Unsteady gait, Cerebellar vermi... |
OMIM:619648 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
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Aplasia/Hypoplasia of the pancreas, Hepatomegaly, Exocrine pancreatic insufficiency, Hyperechogen... |
ORPHA:456312 |
Narcolepsy 7 |
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Narcolepsy |
OMIM:614250 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Ventricular hypertrophy, Hemolytic anemia, Unconjugated hyperbilirubinemia, Elliptocytosis, Retic... |
OMIM:618278 |
Anterior Cutaneous Nerve Entrapment Syndrome |
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Allodynia, Leukocytosis |
ORPHA:51890 |
Cartilage-Hair Hypoplasia |
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Anemia, Lymphopenia, Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemi... |
OMIM:250250 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
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Dilated fourth ventricle, Cerebellar hypoplasia, Optic disc hypoplasia, Accessory spleen, CNS hyp... |
OMIM:619306 |
Congenital Disorder Of Glycosylation, Type Iit |
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Iron deficiency anemia, Decreased HDL cholesterol concentration, Decreased serum creatinine, Hypo... |
OMIM:618885 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
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Decreased number of peripheral myelinated nerve fibers, Decreased nerve conduction velocity, Pain... |
OMIM:201300 |
Diamond-Blackfan Anemia 10 |
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Steroid-responsive anemia, Anemia, Macrocytic anemia, Reticulocytopenia |
OMIM:613309 |
Eisenmenger Syndrome |
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Hyperuricemia, Abnormality of the liver, Brain abscess, Hypochromic microcytic anemia, Abnormal B... |
ORPHA:97214 |
Charcot-Marie-Tooth Disease Type 4B2 |
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Paresthesia, Tip-toe gait, Optic atrophy, Inability to walk, Decreased distal sensory nerve actio... |
ORPHA:99956 |
Hereditary Folate Malabsorption |
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Thrombocytopenia, Megaloblastic anemia, Pancytopenia, Eosinophilia |
ORPHA:90045 |
Waldenström Macroglobulinemia |
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Leukemia, Normocytic anemia, Abnormality of neutrophils, Hepatomegaly, Splenomegaly |
ORPHA:33226 |
Arima Syndrome |
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Dilated fourth ventricle, Hepatic fibrosis, Cirrhosis, Optic atrophy, Retinal dystrophy, Ataxia, ... |
OMIM:243910 |
Glucagonoma |
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Intermittent jaundice, Extrahepatic cholestasis, Neoplasm of the pancreas, Normochromic anemia, I... |
ORPHA:97280 |
Autoimmune Polyendocrinopathy Type 4 |
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Leukopenia, Biliary cirrhosis, Non-caseating epithelioid cell granulomatosis, Hepatitis, Autoimmu... |
ORPHA:227990 |
Hereditary Late-Onset Parkinson Disease |
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Shuffling gait, Akinesia |
ORPHA:411602 |
Japanese Encephalitis |
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Decreased motor nerve conduction velocity, Paucity of anterior horn motor neurons, Choreoathetosi... |
ORPHA:79139 |
Thymoma |
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Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia, Leukemia |
ORPHA:99867 |
Autosomal Dominant Optic Atrophy, Classic Form |
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Macrocytic anemia |
ORPHA:98673 |
Autoimmune Polyendocrinopathy Type 3 |
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Leukopenia, Biliary cirrhosis, Non-caseating epithelioid cell granulomatosis, Hepatitis, Autoimmu... |
ORPHA:227982 |
Autosomal Recessive Spastic Paraplegia Type 55 |
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Onion bulb formation, Optic atrophy, Decreased sensory nerve conduction velocity, Optic neuropath... |
ORPHA:320375 |
Lead Poisoning |
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Abnormal T cell morphology, Anemia, Imbalanced hemoglobin synthesis, Increased LDL cholesterol co... |
ORPHA:330015 |
Acute Adrenal Insufficiency |
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Hyperuricemia, Normocytic anemia, Hyperkalemia, Increased circulating renin level, Hypercalcemia,... |
ORPHA:95409 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
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Dilated fourth ventricle, Cerebellar hypoplasia, Optic nerve hypoplasia, Hypoplasia of the pons, ... |
OMIM:300749 |
Laryngotracheoesophageal Cleft Type 4 |
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Abnormal lower motor neuron morphology, Abnormality of the spleen, Abnormality of mesentery morph... |
ORPHA:93941 |
Acquired Von Willebrand Syndrome |
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Normocytic anemia, Refractory anemia, Hypochromic anemia |
ORPHA:99147 |
Adenohypophysitis |
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Normochromic anemia, Hyponatremia |
ORPHA:95512 |
Supranuclear Palsy, Progressive, 2 |
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Gait imbalance, Falls, Akinesia |
OMIM:609454 |
Progressive Non-Fluent Aphasia |
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Frontotemporal cerebral atrophy, Abnormal lower motor neuron morphology, Astrocytosis, Temporal c... |
ORPHA:100070 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
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Abnormality of neutrophils, Hypochromic anemia |
ORPHA:2720 |
Gaucher Disease, Perinatal Lethal |
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Akinesia |
OMIM:608013 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
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Thrombocytopenia, Normochromic anemia, Hypoalbuminemia |
OMIM:254900 |
Panhypophysitis |
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Normochromic anemia, Hyponatremia |
ORPHA:95513 |
Occipital Horn Syndrome |
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Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration |
OMIM:304150 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
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Reduced natural killer cell count, Perianal abscess, Lymphocytosis, Thrombocytosis, Decreased pro... |
OMIM:301074 |
Pituitary Apoplexy |
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Normochromic anemia, Hyponatremia |
ORPHA:95613 |
Addison Disease |
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Hyperuricemia, Normocytic anemia, Hyperkalemia, Increased circulating renin level, Thiamine-respo... |
ORPHA:85138 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
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Megaloblastic anemia, Cystathioninemia, Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioni... |
OMIM:277400 |
Peutz-Jeghers Syndrome |
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Iron deficiency anemia, Neoplasm of the pancreas, Biliary tract abnormality, Bile duct polyp |
OMIM:175200 |
Choreoacanthocytosis |
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Chorea, Decreased number of peripheral myelinated nerve fibers, Elevated circulating alanine amin... |
ORPHA:2388 |
Kearns-Sayre Syndrome |
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Sideroblastic anemia |
OMIM:530000 |
Bohring-Opitz Syndrome |
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Abnormal optic nerve morphology, Hyperechogenic pancreas, Dandy-Walker malformation, Delayed peri... |
OMIM:605039 |
15Q11.2 Microdeletion Syndrome |
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Dilated fourth ventricle, Ataxia |
ORPHA:261183 |
Supranuclear Palsy, Progressive, 1 |
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Gait imbalance, Falls, Akinesia |
OMIM:601104 |
Lethal Congenital Contracture Syndrome 1 |
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Paucity of anterior horn motor neurons |
OMIM:253310 |
Pulmonary Arteriovenous Malformation |
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Iron deficiency anemia, Liver abscess, Brain abscess |
ORPHA:2038 |
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
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Narcolepsy |
OMIM:604121 |
Neuroendocrine Tumor Of Stomach |
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Iron deficiency anemia, Hepatic failure, Elevated hepatic transaminase, Hepatomegaly |
ORPHA:100075 |
Lesch-Nyhan Syndrome |
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Hyperuricemia, Megaloblastic anemia |
OMIM:300322 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
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Anemia, Abnormal hemoglobin |
ORPHA:847 |
Diaphanospondylodysostosis |
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Abnormal liver lobulation |
OMIM:608022 |
Non-Functioning Pituitary Adenoma |
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Anemia of inadequate production |
ORPHA:91349 |
Duodenal Neuroendocrine Tumor |
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Hepatic failure, Extrahepatic cholestasis, Increased hematocrit, Elevated hepatic transaminase, I... |
ORPHA:100076 |
Arthrogryposis Multiplex Congenita 5 |
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Akinesia |
OMIM:618947 |
Sheehan Syndrome |
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Normochromic anemia, Hyponatremia |
ORPHA:91355 |
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome |
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Demyelinating peripheral neuropathy, Basal lamina onion bulb formation, Spastic gait |
ORPHA:2821 |
Niemann-Pick Disease Type C |
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Hepatosplenomegaly, Narcolepsy, Bone-marrow foam cells, Hepatomegaly, Splenomegaly |
ORPHA:646 |
Neurodegeneration With Brain Iron Accumulation 1 |
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Ataxia, Choreoathetosis, Gait disturbance, Akinesia |
OMIM:234200 |
Igg4-Related Retroperitoneal Fibrosis |
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Increased blood urea nitrogen, Normocytic anemia, Elevated circulating creatinine concentration, ... |
ORPHA:49041 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
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Megaloblastic anemia, Hyposerinemia, Hypoglycinemia |
ORPHA:79351 |
Complex Regional Pain Syndrome |
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Allodynia |
ORPHA:83452 |
Acute Transverse Myelitis |
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Decreased circulating copper concentration |
ORPHA:139417 |
Chromosome 15Q25 Deletion Syndrome |
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Polysplenia, Macrocytic anemia |
OMIM:614294 |
Sarcoidosis |
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Leukopenia, Anemia, Hepatic failure, Hemolytic anemia, Increased T cell count, Hypercalcemia, Eos... |
ORPHA:797 |
Meckel Syndrome, Type 1 |
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Patent ductus arteriosus, Dilated fourth ventricle, Asplenia, Ventriculomegaly, Chiari malformati... |
OMIM:249000 |
Ileal Neuroendocrine Tumor |
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Iron deficiency anemia, Hepatic failure, Elevated hepatic transaminase, Extrahepatic cholestasis |
ORPHA:100078 |
Jejunal Neuroendocrine Tumor |
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Iron deficiency anemia, Hepatic failure, Elevated hepatic transaminase, Extrahepatic cholestasis |
ORPHA:100077 |
Mosaic Trisomy 9 |
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Asplenia, Abnormal liver lobulation |
ORPHA:99776 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
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Narcolepsy |
ORPHA:314404 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Narcolepsy, Hyperkalemia, Hyperlipidemia, Hyponatremia |
ORPHA:293987 |
Primary Sjögren Syndrome |
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Leukopenia, Biliary cirrhosis, Chronic active hepatitis, Normocytic anemia, Lymphopenia, Chronic ... |
ORPHA:289390 |
Dpagt1-Cdg |
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Ataxia, Inability to walk, Akinesia |
ORPHA:86309 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Anemia, Decreased serum iron |
ORPHA:438213 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
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Increased blood urea nitrogen, Decreased number of large peripheral myelinated nerve fibers, Elev... |
OMIM:223900 |
Wiskott-Aldrich Syndrome |
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Absent microvilli on the surface of peripheral blood lymphocytes, Decreased proportion of CD8-pos... |
OMIM:301000 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
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Anemia, Iron deficiency anemia, Abnormal circulating selenium concentration, Decreased serum zinc... |
ORPHA:79408 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Perianal abscess, Thrombocytosis, Leukocytosis, Hypochromic anemia |
OMIM:618213 |
African Trypanosomiasis |
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Hepatosplenomegaly, Pericarditis, Narcolepsy, Hepatomegaly, Myocarditis, Splenomegaly |
ORPHA:3385 |
Pancreatic Triacylglycerol Lipase Deficiency |
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Iron deficiency anemia, Exocrine pancreatic insufficiency |
ORPHA:309031 |
Insensitivity To Pain, Congenital, With Anhidrosis |
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Decreased number of small peripheral myelinated nerve fibers, Pain insensitivity |
OMIM:256800 |
Gitelman Syndrome |
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Hypokalemia, Neoplasm of the pancreas, Hypermagnesemia, Iron deficiency anemia, Hypocalcemia, Hyp... |
ORPHA:358 |
Diamond-Blackfan Anemia 1 |
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Reticulocytopenia, Thrombocytosis, Thrombocytopenia, Neutropenia, Elevated red cell adenosine dea... |
OMIM:105650 |
Neurocardiofaciodigital Syndrome |
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Patent ductus arteriosus, Dilated fourth ventricle, Lateral ventricle dilatation, Optic disc pall... |
OMIM:619869 |
Orofaciodigital Syndrome Type 14 |
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Patent ductus arteriosus, Dilated fourth ventricle, Dilated third ventricle, Abnormal myelination... |
ORPHA:434179 |
Neurotrophic Keratopathy |
|
Allodynia |
ORPHA:137596 |
Degcags Syndrome |
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Leukopenia, Anemia, Abnormal spleen morphology, Hyperbilirubinemia, Pancytopenia, Hepatosplenomeg... |
OMIM:619488 |
Ogden Syndrome |
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Microvesicular hepatic steatosis, Jaundice, Hyperbilirubinemia, Polycythemia, Iron deficiency ane... |
OMIM:300855 |
Wrinkly Skin Syndrome |
|
High nonceruloplasmin-bound serum copper |
ORPHA:2834 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
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Aplasia/Hypoplasia of the cerebellum, Dilated fourth ventricle, Patent ductus arteriosus, Cyst of... |
ORPHA:480880 |
Fanconi Anemia |
|
Leukopenia, Anemia, Abnormality of the liver, Pyridoxine-responsive sideroblastic anemia, Thrombo... |
ORPHA:84 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Allodynia, Elevated circulating thymidine concentration, Elevated circulating deoxyuridine concen... |
OMIM:603041 |
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Iron deficiency anemia, Hepatoblastoma |
ORPHA:261584 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Iron deficiency anemia |
ORPHA:93315 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Reduced hematocrit, Normocytic anemia, Elevated circulating C-reactive protein concentration, Ele... |
ORPHA:91500 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Delayed peripheral myelination |
ORPHA:364577 |
Benign Schwannoma |
|
Allodynia |
ORPHA:252164 |
Pmm2-Cdg |
|
Hepatic fibrosis, Abnormal liver parenchyma morphology, Impaired neutrophil chemotaxis, Elevated ... |
ORPHA:79318 |