| Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia |
OMIM:188030 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
| Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
| Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
| Amegakaryocytic Thrombocytopenia, Congenital |
|
Amegakaryocytic thrombocytopenia, Thrombocytopenia, Pancytopenia |
OMIM:604498 |
| Thrombocytopenia 7 |
|
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... |
OMIM:619130 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal platelet function, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
| Thrombocytopenia 4 |
|
Thrombocytopenia, Abnormal platelet volume |
OMIM:612004 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Anemia, Impaired platelet aggregation, Thrombocytopenia, Giant platelets, Platelet anisocytosis, ... |
OMIM:187800 |
| Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume |
OMIM:615193 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation |
OMIM:124900 |
| Eosinophilia, Familial |
|
Anemia, Thrombocytopenia, Leukocytosis, Eosinophilia |
OMIM:131400 |
| Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... |
OMIM:619271 |
| Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
| Lissencephaly 4 |
|
Simplified gyral pattern, Agenesis of corpus callosum, Lissencephaly, Colpocephaly |
OMIM:614019 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Thrombocytopenia, Leukemia |
OMIM:133180 |
| Anemia, Sideroblastic, 5 |
|
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia |
OMIM:619523 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume |
OMIM:252270 |
| Platelet Signal Processing Defect |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet a... |
OMIM:173590 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Thrombocytopenia, Macrothrombocytopenia |
OMIM:616176 |
| Malaria |
|
Elevated circulating C-reactive protein concentration, Anemia, Thrombocytopenia, Hyperbilirubinemia |
ORPHA:673 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia, Hyperkalemia |
OMIM:141000 |
| Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Anemia, Increased LDL cholesterol concentration, Decreased HDL cholestero... |
OMIM:607616 |
| Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Anemia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hemophagocytosis, Thr... |
OMIM:603552 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:3319 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death, Pachygyria, Colpocephaly |
OMIM:614870 |
| Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Anemia, Thrombocytopenia |
OMIM:615715 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
| Giant platelet syndrome with thrombocytopenia |
|
Thrombocytopenia, Giant platelets |
OMIM:137560 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... |
OMIM:619041 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Hepatosplenomegaly, Increased circulating ferritin concentration, Hemophagocytosis, Throm... |
OMIM:613101 |
| Band Heterotopia |
|
Gray matter heterotopia, Ventriculomegaly, Lateral ventricle dilatation, Hydrocephalus, Subcortic... |
OMIM:600348 |
| Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
| Acute Myelomonocytic Leukemia |
|
Leukocytosis, Anemia, Thrombocytopenia, Eosinophilia |
ORPHA:517 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen... |
OMIM:314050 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia, Elevated circulating alpha-fetoprotein concentration |
OMIM:617243 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Extramedullary hematopoiesis, Thrombocytopenia, Neutropenia, Splenomegaly |
OMIM:615285 |
| Refractory Anemia |
|
Neutropenia, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytopenia, Anemia... |
ORPHA:98826 |
| Congenital Hydrocephalus |
|
Ventriculomegaly, Abnormal cortical gyration, Hydrocephalus, Lissencephaly, Colpocephaly |
ORPHA:2185 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Anemia, Hypersplenism, Hypocholesterolemia, Thrombocytopenia, Splenomegaly |
OMIM:610539 |
| Gray Platelet Syndrome |
|
Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly |
ORPHA:721 |
| Fanconi Anemia, Complementation Group G |
|
Anemia, Thrombocytopenia, Neutropenia, Leukemia |
OMIM:614082 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Leu... |
OMIM:155100 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia |
ORPHA:231401 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia |
OMIM:616913 |
| Von Willebrand Disease, Type 2 |
|
Thrombocytopenia |
OMIM:613554 |
| Wiskott-Aldrich Syndrome 2 |
|
Thrombocytopenia, Decreased proportion of CD8-positive T cells |
OMIM:614493 |
| Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia |
ORPHA:1980 |
| Polycythemia Vera |
|
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... |
OMIM:263300 |
| Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly |
OMIM:269600 |
| Alg13-Cdg |
|
Abnormal lateral ventricle morphology |
ORPHA:324422 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt... |
ORPHA:75564 |
| Sitosterolemia 1 |
|
Stomatocytosis, Hypercholesterolemia, Anemia, Reduced haptoglobin level, Reticulocytosis, Impaire... |
OMIM:210250 |
| Fetal Parvovirus Syndrome |
|
Anemia, Thrombocytopenia |
ORPHA:295 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly |
OMIM:617441 |
| Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
| Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... |
ORPHA:521 |
| Atypical Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:2134 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Hypertriglyceridemia, Hyperbil... |
ORPHA:158057 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Hypoplastic a... |
OMIM:159550 |
| Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Elliptocytosis, Impaired platelet aggregation, Poikilocytosis, Anisocytosis, Macrocytic anemia, T... |
OMIM:300835 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Thrombocytopenia, Anemia |
OMIM:619302 |
| Autoinflammation With Infantile Enterocolitis |
|
Reduced natural killer cell count, Anemia, Pancytopenia, Increased circulating ferritin concentra... |
OMIM:616050 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Polymicrogyria |
ORPHA:250972 |
| Transcobalamin Deficiency |
|
Thrombocytopenia, Neutropenia, Pancytopenia, Lymphopenia |
ORPHA:859 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Poikilocytosis, Anisocytosis, Hypochromic anemia, Macrothrombocytopenia, Anemia of inadequate pro... |
ORPHA:67044 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Thrombocytopenia, Abnormal platelet aggregation |
ORPHA:401945 |
| Nephrotic Syndrome, Type 7 |
|
Thrombocytopenia, Hemolytic anemia |
OMIM:615008 |
| Bernard-Soulier Syndrome |
|
Thrombocytopenia, Macrothrombocytopenia, Impaired ristocetin-induced platelet aggregation, Giant ... |
OMIM:231200 |
| Forsythe-Wakeling Syndrome |
|
Thrombocytopenia |
OMIM:613606 |
| Holoprosencephaly 5 |
|
Syntelencephaly, Lateral ventricle dilatation, Hydrocephalus, Semilobar holoprosencephaly, Lobar ... |
OMIM:609637 |
| Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Incre... |
OMIM:613011 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia |
OMIM:314000 |
| Aicardi-Goutieres Syndrome 3 |
|
Thrombocytopenia, Hepatosplenomegaly |
OMIM:610329 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Anemia, Thrombocytopenia, Pancytopenia |
OMIM:616435 |
| Intellectual Developmental Disorder, X-Linked 103 |
|
Lateral ventricle dilatation, Polymicrogyria |
OMIM:300982 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Gray matter heterotopia, Perisylvian polymicrogyria, Lateral ventricle dilatation, Lissencephaly,... |
ORPHA:300573 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Thrombocytopenia, Elevated circulating creatine kinase concentration |
OMIM:614727 |
| Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Abnormal lateral ventricle morphology |
ORPHA:488635 |
| Folate Malabsorption, Hereditary |
|
Leukopenia, Thrombocytopenia, Neutropenia, Folate-responsive megaloblastic anemia |
OMIM:229050 |
| Immunodeficiency 32B |
|
Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Impaired oxidative burst, Thrombocytopenia, Sp... |
OMIM:226990 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia |
OMIM:616738 |
| Transaldolase Deficiency |
|
Anemia, Hepatosplenomegaly, Increased serum bile acid concentration, Abnormal circulating glutami... |
ORPHA:101028 |
| Central Neurocytoma |
|
Hydrocephalus, Abnormal lateral ventricle morphology |
ORPHA:73256 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Increase... |
OMIM:267700 |
| Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Thrombocytopenia, Splenomegaly |
OMIM:615010 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Increased mean platelet volume, Impa... |
OMIM:617443 |
| Pontocerebellar Hypoplasia, Type 12 |
|
Lateral ventricle dilatation, Death in infancy |
OMIM:618266 |
| Thrombotic Thrombocytopenic Purpura |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Decreased serum creatinine, Reticulocytosis |
ORPHA:54057 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Lymphocytosis, Pancytopenia, Thrombocytopenia, Hemophagocytosis, Elevated circulating C-reactive ... |
OMIM:308240 |
| Polyrrhinia |
|
Abnormal third ventricle morphology, Lateral ventricle dilatation |
ORPHA:141091 |
| Macrophage Activation Syndrome |
|
Abnormal natural killer cell count, Anemia, Hypertriglyceridemia, Increased circulating ferritin ... |
ORPHA:158061 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Abnormal alpha granule content, Impaired platelet aggregation, Abnormal d... |
OMIM:601399 |
| Wt Limb-Blood Syndrome |
|
Thrombocytopenia, Leukemia, Pancytopenia, Hypoplastic anemia |
OMIM:194350 |
| Glycogen Storage Disease Iv |
|
Polyhydramnios, Hepatic failure, Cirrhosis, Hydrops fetalis, Hepatosplenomegaly, Edema, Ascites, ... |
OMIM:232500 |
| Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Elevated pulmonary artery pressure, Edema, Pulmonary edema |
OMIM:178400 |
| Slc35A1-Cdg |
|
Thrombocytopenia, Neutropenia, Abnormal platelet granules, Giant platelets |
ORPHA:238459 |
| Immunodeficiency 46 |
|
Anemia, Neutropenia, Intermittent thrombocytopenia |
OMIM:616740 |
| Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Simplified gyral pattern, Lateral ventricle dilatation, Death in infancy |
OMIM:617668 |
| Lymphatic Malformation 7 |
|
Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Atrial septal defec... |
OMIM:617300 |
| Wolfram Syndrome, Mitochondrial Form |
|
Thrombocytopenia, Sideroblastic anemia, Megaloblastic anemia, Neutropenia |
OMIM:598500 |
| Systemic Lupus Erythematosus 17 |
|
Leukopenia, Thrombocytopenia, Lymphopenia, Autoimmune thrombocytopenia |
OMIM:301080 |
| Leishmaniasis |
|
Leukopenia, Anemia, Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, Splenomegaly,... |
ORPHA:507 |
| Immunodeficiency 97 With Autoinflammation |
|
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... |
OMIM:619802 |
| Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Thrombocytopenia, Abnormal platelet aggregation |
OMIM:614171 |
| Sengers Syndrome |
|
Thrombocytopenia |
OMIM:212350 |
| Diffuse Neonatal Hemangiomatosis |
|
Anemia, Thrombocytopenia, Hypercalcemia |
ORPHA:2123 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Thrombocytopenia, Sideroblastic anemia |
OMIM:617021 |
| Platelet Disorder, Undefined |
|
Thrombocytopenia, Impaired platelet aggregation |
OMIM:173420 |
| Lymphatic Malformation 8 |
|
Polyhydramnios, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Generalized edema |
OMIM:618773 |
| Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:101071 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... |
OMIM:612924 |
| Drug-Induced Lupus Erythematosus |
|
Anemia, Elevated circulating creatine kinase concentration, Increased blood urea nitrogen, Elevat... |
ORPHA:231111 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Gray matter heterotopia, Ventriculomegaly, Simplified gyral pattern, Communicating hydrocephalus,... |
OMIM:615219 |
| Beta-Thalassemia |
|
Anemia, Abnormality of iron homeostasis, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly, Mic... |
ORPHA:848 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis, Poikilocytosis |
OMIM:300367 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Thrombocytopenia, Megaloblastic anemia |
OMIM:601815 |
| Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Retinal pigment epithelial mottling, Partial agenesis of the corpus callosum, Death in childhood,... |
OMIM:619517 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... |
OMIM:612926 |
| Thyrocerebrorenal Syndrome |
|
Thrombocytopenia |
ORPHA:3327 |
| Refractory Anemia With Excess Blasts |
|
Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal mean corpuscular vol... |
ORPHA:86839 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Thrombocytopenia, Neutropenia, Hyperammonemia, Anemia |
ORPHA:289916 |
| Non-Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141179 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Thrombocytopenia, Hemolytic anemia, Lymphopenia |
OMIM:616744 |
| Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly |
ORPHA:401815 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Leukopenia, Anemia, Hyperammonemia, Macrocytic anemia, Thrombocytopenia |
ORPHA:27 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Thrombocytopenia |
ORPHA:67048 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anemia, Hyperammonemia, Thrombocytopenia, Neutropenia, Splenomegaly |
ORPHA:79312 |
| Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Colpocephaly, Polymicrogyria |
OMIM:618731 |
| Bone Marrow Failure Syndrome 4 |
|
Leukopenia, Anemia, Thrombocytopenia |
OMIM:618116 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Basal ganglia gliosis, Ventriculomegaly, Lateral ventricle dilatation, Cerebellar gliosis, Partia... |
ORPHA:79243 |
| Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... |
OMIM:612925 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Leukopenia, Anemia, Pancytopenia, Hepatosplenomegaly, Increased circul... |
OMIM:603553 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Lateral ventricle dilatation |
OMIM:616816 |
| Idiopathic Aplastic Anemia |
|
Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Neutropenia |
ORPHA:88 |
| Aicardi-Goutieres Syndrome 4 |
|
Thrombocytopenia, Splenomegaly, Pancytopenia, Hepatosplenomegaly |
OMIM:610333 |
| Preeclampsia |
|
Elevated circulating creatinine concentration, Thrombocytopenia |
ORPHA:275555 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Leukopenia, Thrombocytopenia, Refractory anemia |
OMIM:231095 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Leukopenia, Anemia, Hyperuricemia, Pancytopenia, Increased blood urea nitrogen, Hyponatremia, Thr... |
OMIM:613845 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Microangiopathic hemolytic anemia, Reticulocytosis, Increased blood urea nitrogen, Schistocytosis... |
OMIM:235400 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Basal ganglia gliosis, Lateral ventricle dilatation, Degeneration of anterior horn cells |
OMIM:607596 |
| Isovaleric Acidemia |
|
Leukopenia, Thrombocytopenia, Pancytopenia |
OMIM:243500 |
| Relapsing Fever |
|
Increased total bilirubin, Leukopenia, Anemia, Neutrophilia, Elevated circulating C-reactive prot... |
ORPHA:91547 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Complete heart block with narrow QRS complexes, Abnormal cardiac ventricular function, Paroxysmal... |
ORPHA:1677 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Thrombocytopenia, Increased circulating ferritin concentration, Hepatosplenomegaly |
ORPHA:210136 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Thrombocytopenia |
OMIM:188025 |
| Rapidly Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141184 |
| Quebec Platelet Disorder |
|
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Lateral ventricle dilatation |
ORPHA:306669 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Stomatocytosis, Splenomegaly, Impaired collagen-related peptide-induced platelet aggregation, Hem... |
OMIM:153670 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Impaired epinephrine-induced platelet aggregation, Macrothrombocytopenia, Increased RBC distribut... |
OMIM:187900 |
| Thyrocerebroretinal Syndrome |
|
Thrombocytopenia |
OMIM:274240 |
| Martsolf Syndrome 2 |
|
Lateral ventricle dilatation |
OMIM:619420 |
| Gaucher Disease, Type Iii |
|
Thrombocytopenia, Splenomegaly, Pancytopenia |
OMIM:231000 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Lateral ventricle dilatation |
OMIM:615889 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Abnormal upper motor neuron morphology, Gliosis, Lateral ventricle dilatation |
OMIM:221770 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:613443 |
| Stuve-Wiedemann Syndrome 2 |
|
Thrombocytopenia |
OMIM:619751 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Thrombocytopenia, Splenomegaly |
OMIM:615085 |
| Lysosomal Acid Lipase Deficiency |
|
Leukopenia, Anemia, Hypersplenism, Steatorrhea, Hepatosplenomegaly, Increased LDL cholesterol con... |
OMIM:278000 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Thrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib, Macrothrombocytopenia |
OMIM:603585 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, B lymphocytopenia, Elevated circulating C-reactive protein concentration... |
OMIM:618048 |
| Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Thrombocytopenia, Leukopenia, Anemia |
OMIM:619151 |
| Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Lateral ventricle dilatation |
OMIM:619972 |
| Babesiosis |
|
Leukopenia, Thrombocytopenia, Splenomegaly, Hemolytic anemia |
ORPHA:108 |
| Noonan Syndrome 12 |
|
Thrombocytopenia, Lymphopenia |
OMIM:618624 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker malformation, Lateral ventricle d... |
OMIM:618736 |
| Joubert Syndrome 3 |
|
Frontal polymicrogyria, Enlarged fossa interpeduncularis, Pigmentary retinopathy, Lateral ventric... |
OMIM:608629 |
| Rhabdoid Tumor |
|
Thrombocytopenia, Hypercalcemia, Anemia |
ORPHA:69077 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Anemia, Thrombocytopenia, Splenomegaly, Reticulocytosis |
OMIM:611490 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Hypertriglycerid... |
ORPHA:158048 |
| Omenn Syndrome |
|
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Hypoproteinemia, E... |
OMIM:603554 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
B lymphocytopenia, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocytopenia, Splenomegaly |
OMIM:150550 |
| Gray Platelet Syndrome |
|
Abnormal number of alpha granules, Impaired collagen-induced platelet aggregation, Thrombocytopen... |
OMIM:139090 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioninemia, Elevated circulating propionylcar... |
OMIM:614857 |
| Congenital Toxoplasmosis |
|
Thrombocytopenia, Anemia |
ORPHA:858 |
| Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Anisopoikilocytosis, Abnormal hemoglobin concentration, Reticulocytosis, Pa... |
ORPHA:35858 |
| Primary Myelofibrosis |
|
Anemia, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Thrombocytosis, Leukocytosis, Extramedu... |
ORPHA:824 |
| Myh9-Related Disease |
|
Congenital thrombocytopenia, Neutrophil inclusion bodies, Increased mean platelet volume, Giant p... |
ORPHA:182050 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Simplified gyral pattern, Lissencephaly, Lateral ventricle dilatation |
ORPHA:284417 |
| Glutamine Deficiency, Congenital |
|
Subependymal cysts, Neonatal death, Lateral ventricle dilatation |
OMIM:610015 |
| Alg2-Cdg |
|
Lateral ventricle dilatation |
ORPHA:79326 |
| Isolated Agammaglobulinemia |
|
Anemia, Thrombocytopenia, Abnormal lymphocyte morphology, Abnormality of neutrophils |
ORPHA:229717 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Lateral ventricle dilatation |
OMIM:618330 |
| Systemic Lupus Erythematosus |
|
Leukopenia, Thrombocytopenia, Hemolytic anemia |
OMIM:152700 |
| Cog4-Cdg |
|
Hypercholesterolemia, Thrombocytopenia, Hepatosplenomegaly |
ORPHA:263501 |
| Moyamoya Disease 6 With Or Without Achalasia |
|
Thrombocytopenia |
OMIM:615750 |
| Intermediate Osteopetrosis |
|
Thrombocytopenia, Hypocalcemia, Anemia, Hepatosplenomegaly |
ORPHA:210110 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Coombs-positive hemolytic anemia, Neutropenia in presence of anti-neutrop... |
OMIM:603909 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Lateral ventricle dilatation |
ORPHA:77299 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Thrombocytopenia, Megaloblastic anemia |
ORPHA:49827 |
| Stormorken Syndrome |
|
Asplenia, Anemia, Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Thromb... |
OMIM:185070 |
| Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Hepatosplenomegaly, Hemophagocytosis, Elevated circulating C-reactive protein conce... |
OMIM:619644 |
| Specific Granule Deficiency 2 |
|
Thrombocytopenia, Neutropenia, Absent neutrophil specific granules, Anemia |
OMIM:617475 |
| Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dysplastic corpus callosum, Agenesis of corpus callosum, Colpocephaly |
OMIM:619955 |
| Craniosynostosis 6 |
|
Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker malformation, Lateral ventricle d... |
OMIM:616602 |
| Adams-Oliver Syndrome 2 |
|
Hydrocephalus, Lateral ventricle dilatation, Polymicrogyria |
OMIM:614219 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Leukopenia, Hyperglycinemia, Methylmalonic acidemia, Hyperammonemia, Thrombocytopenia, Neutropenia |
OMIM:251000 |
| Methylmalonic Aciduria, Cblb Type |
|
Anemia, Hyperglycinemia, Methylmalonic acidemia, Pancytopenia, Hyperammonemia, Thrombocytopenia, ... |
OMIM:251110 |
| Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Lateral ventricle dilatation |
OMIM:618890 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Dilated third ventricle, Ventriculomegaly, Lateral ventricle dilatation, Hydrocephalus, Type II l... |
OMIM:613154 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Thrombocytopenia |
OMIM:616576 |
| Propionic Acidemia |
|
Anemia, Hyperglycinemia, Pancytopenia, Hyperammonemia, Thrombocytopenia, Neutropenia |
OMIM:606054 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Hydrocephalus, Periventricular heterotopia, Ventriculomegaly, Colpocephaly |
OMIM:619833 |
| Pelger-Huet Anomaly |
|
Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant platelets, Thrombocytope... |
OMIM:169400 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Anemia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hemophagocytosis, Thr... |
ORPHA:540 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Retinal pigment epithelial mottling, Periventricular heterotopia, Lateral ventricle dilatation |
OMIM:614105 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Anemia, Decreased circulating total IgM, Lateral ventricle dilatation, Death in infancy, Hydrocep... |
OMIM:612301 |
| Fanconi Anemia, Complementation Group I |
|
Cafe-au-lait spot, Bone marrow hypocellularity, Neutropenia, Agenesis of corpus callosum, Colpoce... |
OMIM:609053 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia, Pancytopenia |
OMIM:613839 |
| Congenital Enterovirus Infection |
|
Leukopenia, Anemia, Abnormal macrophage morphology, Hyperammonemia, Leukocytosis, Thrombocytopeni... |
ORPHA:292 |
| Immune Thrombocytopenia |
|
Thrombocytopenia |
ORPHA:3002 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Thrombocytopenia, Absent circulating B cells |
OMIM:619693 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Thrombocytopenia, Sideroblastic anemia, Thiamine-responsive megaloblastic anemia |
OMIM:249270 |
| Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly |
ORPHA:158029 |
| Aicardi-Goutieres Syndrome 5 |
|
Thrombocytopenia |
OMIM:612952 |
| Pseudo-Torch Syndrome 2 |
|
Gray matter heterotopia, Ventriculomegaly, Lateral ventricle dilatation, Thrombocytopenia, Polymi... |
OMIM:617397 |
| Gamma-Heavy Chain Disease |
|
Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Thrombocytopenia, Splenomegaly,... |
ORPHA:100026 |
| Hepatoportal Sclerosis |
|
Leukopenia, Anemia, Hypersplenism, Hyperbilirubinemia, Thrombocytopenia, Splenomegaly, Hypoalbumi... |
ORPHA:64743 |
| Cach Syndrome |
|
Dysgyria, Lateral ventricle dilatation, Hepatosplenomegaly |
ORPHA:135 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Microangiopathic hemolytic anemia, Reticulocytosis, Increased blood urea nitrogen, Schistocytosis... |
OMIM:274150 |
| Aggressive Systemic Mastocytosis |
|
Anemia, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Increased proportion of CD25+ mast cells... |
ORPHA:98850 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Spina bifida occulta, Perisylvian polymicrogyria, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:618291 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Thrombocytopenia, Anemia, Hypoalbuminemia |
OMIM:608104 |
| Pseudo-Torch Syndrome 3 |
|
Anemia, Congenital thrombocytopenia, Increased circulating ferritin concentration, Leukocytosis |
OMIM:618886 |
| Methylmalonic Aciduria, Cbla Type |
|
Anemia, Hyperglycinemia, Methylmalonic acidemia, Pancytopenia, Hyperammonemia, Thrombocytopenia, ... |
OMIM:251100 |
| Aregenerative Anemia |
|
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni... |
ORPHA:101096 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Abnormal neutrophil count, Leukocytosis, Myeloproliferative disorder, Thrombocytopenia, Acute leu... |
ORPHA:3226 |
| Tufted Angioma |
|
Anemia, Thrombocytopenia |
ORPHA:1063 |
| Dengue Fever |
|
Leukopenia, Thrombocytopenia, Hypoproteinemia |
ORPHA:99828 |
| Acquired Purpura Fulminans |
|
Thrombocytopenia, Elevated circulating C-reactive protein concentration |
ORPHA:49566 |
| Braddock-Carey Syndrome 2 |
|
Thrombocytopenia |
OMIM:619981 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Elevated hemoglobin A1c, Lateral ventricle dilatation |
OMIM:619278 |
| Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Thrombocytopenia |
OMIM:612783 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Lateral ventricle dilatation, Polymicrogyria |
OMIM:617751 |
| Griscelli Syndrome |
|
Leukopenia, Abnormal circulating lipid concentration, Abnormality of neutrophils, Thrombocytopeni... |
ORPHA:381 |
| Neonatal Lupus Erythematosus |
|
Anemia, Neutropenia, Hemolytic anemia, Pancytopenia, Thrombocytopenia, Aplastic anemia, Splenomegaly |
ORPHA:398124 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Anemia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytop... |
OMIM:304790 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
| Congenital Rubella Syndrome |
|
Thrombocytopenia, Splenomegaly, Anemia |
ORPHA:290 |
| Stt3B-Cdg |
|
Thrombocytopenia |
ORPHA:370924 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Amegakaryocytic thrombocytopenia, Congenital thrombocytopenia, Aplastic anemia |
OMIM:605432 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
B lymphocytopenia, Autoimmune hemolytic anemia, Hemophagocytosis, Thrombocytopenia, Neutropenia, ... |
OMIM:301078 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Dilated third ventricle, Lateral ventricle dilatation |
ORPHA:363654 |
| Fetal Gaucher Disease |
|
Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Pancytopenia |
ORPHA:85212 |
| Avian Influenza |
|
Leukopenia, Lymphopenia, Elevated circulating creatine kinase concentration, Elevated circulating... |
ORPHA:454836 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Lateral ventricle dilatation |
OMIM:615716 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Thrombocytopenia |
OMIM:615597 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Thrombocytopenia, Pancytopenia |
OMIM:613987 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating acylcarnitine concentration, Decreased plasma carnitine, Elevated creatine k... |
ORPHA:99901 |
| Spondyloenchondrodysplasia |
|
Ventriculomegaly, Abnormal lateral ventricle morphology, Pancytopenia, Autoimmune thrombocytopeni... |
ORPHA:1855 |
| D-2-Hydroxyglutaric Aciduria 1 |
|
Subependymal cysts, Lateral ventricle dilatation |
OMIM:600721 |
| 16Q24.3 Microdeletion Syndrome |
|
Periventricular heterotopia, Ventriculomegaly, Increased mean corpuscular volume, Thrombocytopeni... |
ORPHA:261250 |
| Bilateral Generalized Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:208447 |
| Weiss-Kruszka Syndrome |
|
Ventriculomegaly, Agenesis of corpus callosum, Colpocephaly |
OMIM:618619 |
| Holocarboxylase Synthetase Deficiency |
|
Thrombocytopenia, Hyperammonemia |
ORPHA:79242 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Anemia, Pancytopenia, Hepatosplenomegaly, Extramedullary hematopoiesis, Thrombocytopenia |
OMIM:259710 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Thrombocytopenia, Splenomegaly, Pancytopenia, Elevated circulating creatine kinase concentration |
OMIM:614576 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Anemia, Megaloblastic anemia, Cystathioninemia, Methylmalonic acidemia, Hyperhomocystinemia, Panc... |
OMIM:277380 |
| Lig4 Syndrome |
|
Thrombocytopenia, Pancytopenia |
OMIM:606593 |
| Vexas Syndrome |
|
Thrombocytopenia, Elevated circulating C-reactive protein concentration, Macrocytic anemia |
OMIM:301054 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
| Letterer-Siwe Disease |
|
Thrombocytopenia, Anemia, Neutropenia, Hepatosplenomegaly |
OMIM:246400 |
| Halperin-Birk Syndrome |
|
Ventriculomegaly, Semilobar holoprosencephaly, Death in childhood, Agenesis of corpus callosum, C... |
OMIM:618651 |
| Tularemia |
|
Anemia, Thrombocytopenia, Leukocytosis |
ORPHA:3392 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Hypochromic microcytic anemia, Thrombocytopenia, Increased circulating ferritin concentration |
ORPHA:3240 |
| X-Linked Agammaglobulinemia |
|
Thrombocytopenia, Neutropenia, Hypocalcemia, Anemia |
ORPHA:47 |
| Mevalonic Aciduria |
|
Anemia, Hepatosplenomegaly, Elevated circulating creatine kinase concentration, Normocytic hypopl... |
OMIM:610377 |
| Diffuse Alveolar Hemorrhage |
|
Anemia, Thrombocytopenia, Elevated circulating creatinine concentration, Leukocytosis |
ORPHA:90060 |
| Paganini-Miozzo Syndrome |
|
Lateral ventricle dilatation |
OMIM:301025 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Anemia, Lymphopenia, Thrombocytopenia, Hypertriglyceridemia, Splenomegaly |
OMIM:617591 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal natural killer cell count, Abnormal B cell count, Hepatosplenomegaly, Lymphopenia, Autoi... |
ORPHA:331206 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Thrombocytopenia, Normochromic anemia, Elevated circulating creatine kinase concentration |
OMIM:618775 |
| Von Willebrand Disease, Type 3 |
|
Thrombocytopenia, Impaired platelet aggregation |
OMIM:277480 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Thrombocytopenia, Splenomegaly |
OMIM:619463 |
| Pontocerebellar Hypoplasia, Type 13 |
|
Dandy-Walker malformation, Lateral ventricle dilatation |
OMIM:618606 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Anemia, Hypophosphatemia, Elevated circulating creatine kinase concentration, Mildly elevated cre... |
OMIM:619743 |
| Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Thrombocytopenia |
OMIM:616577 |
| Hermansky-Pudlak Syndrome 5 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Absent platelet dense granules |
OMIM:614074 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... |
ORPHA:98849 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Death in childhood, Gliosis, Lateral ventricle dilatation |
OMIM:619847 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lateral ventricle dilatation |
OMIM:617854 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Anemia, Hypocalcemia, Pancytopenia, Thrombocytopenia, Splenomegaly |
OMIM:259700 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Hyposegmentation of neutrophil nuclei, Lateral ventricle dilatation |
OMIM:620075 |
| Overlap Myositis |
|
Elevated circulating creatine kinase concentration, Leukopenia, Thrombocytopenia, Abnormal circul... |
ORPHA:206572 |
| Thrombocytopenia 6 |
|
Thrombocytopenia |
OMIM:616937 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Dandy-Walker malformation, Lateral ventricle dilatation |
ORPHA:3078 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Generalized hypopigmentation, Ocular albinism, Iris hypopigmentation, Hydrocephalus, Abnormality ... |
ORPHA:2720 |
| Hereditary Folate Malabsorption |
|
Thrombocytopenia, Megaloblastic anemia, Pancytopenia, Eosinophilia |
ORPHA:90045 |
| Malan Overgrowth Syndrome |
|
Ventriculomegaly, Lateral ventricle dilatation |
ORPHA:420179 |
| Snakebite Envenomation |
|
Thrombocytopenia, Hyponatremia |
ORPHA:449285 |
| Cardiac Valvular Dysplasia 1 |
|
Patent foramen ovale, Hydrops fetalis, Ventricular septal defect, Valvular pulmonary stenosis, Mi... |
OMIM:212093 |
| Shwachman-Diamond Syndrome |
|
Acute myeloid leukemia, Chronic neutropenia, Leukopenia, Anemia, Neutropenia, Hypoamylasemia, Imp... |
ORPHA:811 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Thrombocytopenia, Leukocytosis, Hyponatremia |
ORPHA:83601 |
| Chédiak-Higashi Syndrome |
|
Anemia, Hypertriglyceridemia, Neutropenia, Abnormal platelet function, Pancytopenia, Hepatospleno... |
ORPHA:167 |
| Schimke Immuno-Osseous Dysplasia |
|
Anemia, Lymphopenia, Hyperlipidemia, Decreased proportion of naive CD8 T cells, Thrombocytopenia,... |
ORPHA:1830 |
| Gaucher Disease, Type I |
|
Anemia, Hypersplenism, Pancytopenia, Thrombocytopenia, Splenomegaly |
OMIM:230800 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Simplified gyral pattern, Agenesis of corpus callosum, Lateral ventricle dilatation, Dilated thir... |
OMIM:619244 |
| Thrombocytopenia 1 |
|
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia |
OMIM:313900 |
| X-Linked Intellectual Disability, Wilson Type |
|
Lateral ventricle dilatation |
ORPHA:85290 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Brushfield spots, Splenomegaly, Colpocephaly, Death in infancy, Macrogyria, Hepatosplenomegaly, P... |
OMIM:614866 |
| Alg8-Cdg |
|
Thrombocytopenia, Anemia, Hyponatremia |
ORPHA:79325 |
| Pearson Marrow-Pancreas Syndrome |
|
Anemia, Reticulocytopenia, Hyperbilirubinemia, Refractory sideroblastic anemia, Sideroblastic ane... |
OMIM:557000 |
| Acute Promyelocytic Leukemia |
|
Leukopenia, Anemia, Pancytopenia, Leukocytosis, Thrombocytopenia, Neutropenia |
ORPHA:520 |
| Transaldolase Deficiency |
|
Anemia, Pancytopenia, Hepatosplenomegaly, Thrombocytopenia, Splenomegaly |
OMIM:606003 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Normal pressure hydrocephalus, Lateral ventricle dilatation, Simplified gyral pattern, Lissenceph... |
ORPHA:300570 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Persistence of hemoglobin F, Steatorrhea, Thrombocy... |
OMIM:260400 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Thrombocytopenia, Neutropenia, Anemia |
OMIM:614520 |
| Necrotizing Enterocolitis |
|
Thrombocytopenia, Neutropenia, Leukocytosis, Hyponatremia |
ORPHA:391673 |
| Chediak-Higashi Syndrome |
|
Leukopenia, Anemia, Giant neutrophil granules, Hemophagocytosis, Impaired neutrophil bactericidal... |
OMIM:214500 |
| Tangier Disease |
|
Anemia, Hepatosplenomegaly, Hypocholesterolemia, Thrombocytopenia, Hypertriglyceridemia |
ORPHA:31150 |
| Felty Syndrome |
|
Anemia, Thrombocytopenia, Neutropenia, Splenomegaly, Abnormal lymphocyte morphology |
ORPHA:47612 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Leukopenia, Thrombocytopenia, Elevated circulating creatine kinase concentration |
OMIM:301056 |
| Wolfram Syndrome 1 |
|
Thrombocytopenia, Sideroblastic anemia, Megaloblastic anemia |
OMIM:222300 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Chronic neutropenia, B lymphocytopenia, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune hem... |
OMIM:614700 |
| Mirage Syndrome |
|
Leukopenia, Anemia, Hyperkalemia, Lymphopenia, Thrombocytopenia, Hyponatremia, Hypoplastic spleen |
OMIM:617053 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hyperbilirubinemia, Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Splen... |
OMIM:251880 |
| Beemer-Ertbruggen Syndrome |
|
Thrombocytopenia |
ORPHA:1237 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Leukopenia, Pancytopenia, Thrombocytopenia, Aplastic anemia, Neutropenia |
OMIM:613989 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Leukopenia, Anemia, Thrombocytopenia, Neutropenia, Splenomegaly, Hypoalbuminemia |
OMIM:617303 |
| Lysinuric Protein Intolerance |
|
Leukopenia, Anemia, Hyperalaninemia, Hyperglycinemia, Intraalveolar phospholipid accumulation, Hy... |
ORPHA:470 |
| Glutaric Acidemia I |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:231670 |
| Boutonneuse Fever |
|
Leukopenia, Thrombocytopenia |
ORPHA:83313 |
| Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Lateral ventricle dilatation |
OMIM:256850 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Thrombocytopenia |
OMIM:617710 |
| Braddock-Carey Syndrome 1 |
|
Thrombocytopenia |
OMIM:619980 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Agenesis of corpus callosum, Hydrocephalus, Lateral ventricle dilatation |
OMIM:612863 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Unconjugated hyperbilirubinemia, Microangiopathic hemolytic anemia, Hypokalemia, Reticulocytosis,... |
ORPHA:90038 |
| Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Agyria, Pachygyria, Lateral ventricle dilatation |
ORPHA:2148 |
| Hermansky-Pudlak Syndrome 2 |
|
Reduced natural killer cell count, Decreased CD4:CD8 ratio, Enlarged platelet dense granules, Imp... |
OMIM:608233 |
| Cyclic Neutropenia |
|
Thrombocytopenia, Decreased eosinophil count, Cyclic neutropenia, Lymphopenia |
ORPHA:2686 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Anemia, Hyperbilirubinemia, Hypocalcemia, Pancytopenia, Hepatosplenomegaly, Hypochromic microcyti... |
OMIM:259720 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Abnormal natural killer cell count, Anemia, T lymphocytopenia, Pancytopenia, Hepatosplenomegaly, ... |
ORPHA:79124 |
| Neuroleptic Malignant Syndrome |
|
Hyperphosphatemia, Hyperuricemia, Hypocalcemia, Hyperkalemia, Elevated circulating creatine kinas... |
ORPHA:94093 |
| Slc35A2-Cdg |
|
Hypopigmentation of the skin, Dandy-Walker malformation, Lateral ventricle dilatation |
ORPHA:356961 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Thrombocytopenia, Anemia, Elevated hepatic iron concentration |
OMIM:614946 |
| Schimke Immunoosseous Dysplasia |
|
Anemia, Abnormal T cell morphology, Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia |
OMIM:242900 |
| Smith-Kingsmore Syndrome |
|
Thrombocytopenia |
OMIM:616638 |
| Prolidase Deficiency |
|
Thrombocytopenia, Splenomegaly, Anemia |
OMIM:170100 |
| Blue Rubber Bleb Nevus |
|
Iron deficiency anemia, Thrombocytopenia |
OMIM:112200 |
| Zika Virus Disease |
|
Thrombocytopenia |
ORPHA:448237 |
| Bacterial Toxic-Shock Syndrome |
|
Increased circulating metamyelocyte count, Hypocalcemia, Elevated circulating creatine kinase con... |
ORPHA:36234 |
| Khan-Khan-Katsanis Syndrome |
|
Anemia, Ventriculomegaly, Lymphopenia, Neutropenia, Pigmentary retinopathy, Colpocephaly |
OMIM:618460 |
| Wilson Disease |
|
Thrombocytopenia, Splenomegaly, Anemia |
ORPHA:905 |
| Fanconi Anemia, Complementation Group E |
|
Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Neutropenia, Leukemia |
OMIM:600901 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Lateral ventricle dilatation, Thrombocytopenia, Anemia, Giant platelets |
OMIM:611209 |
| Holocarboxylase Synthetase Deficiency |
|
Thrombocytopenia, Hyperammonemia |
OMIM:253270 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Dilated third ventricle, Partial agenesis of the corpus callosum, Lateral ventricle dilatation |
OMIM:617296 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Dilated fourth ventricle, Thrombocytopenia, Ventriculomegaly, Lateral ventricle dilatation |
ORPHA:572798 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Lateral ventricle dilatation |
OMIM:619995 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Meningocele, Dilated third ventricle, Ventriculomegaly, Lateral ventricle dilatation, Occipital e... |
ORPHA:397715 |
| Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Colpocephaly |
OMIM:620113 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Thrombocytopenia, Conjugated hyperbilirubinemia |
OMIM:208085 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Lateral ventricle dilatation |
OMIM:618914 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Leukopenia, Anemia, Reticulocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia, Neutropenia |
ORPHA:508542 |
| Gaucher Disease Type 1 |
|
Leukopenia, Anemia, Hypersplenism, Pancytopenia, Thrombocytopenia, Splenomegaly |
ORPHA:77259 |
| Sepsis In Premature Infants |
|
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Thrombocytopenia, Ne... |
ORPHA:90051 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Leukopenia, Anemia, Lymphopenia, Increased mean corpuscular volume, Thrombocytopenia, Aplastic an... |
OMIM:127550 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Thrombocytopenia, Splenomegaly |
ORPHA:169090 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Dysplastic corpus callosum, Ventriculomegaly, Lateral ventricle dilatation |
ORPHA:488627 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Gliosis, Lateral ventricle dilatation |
OMIM:607485 |
| Fanconi Anemia, Complementation Group A |
|
Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Neutropenia, Leukemia |
OMIM:227650 |
| Hoyeraal-Hreidarsson Syndrome |
|
Thrombocytopenia, Abnormal leukocyte morphology, Anemia |
ORPHA:3322 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Thrombocytopenia, Normochromic anemia, Hypoalbuminemia |
OMIM:254900 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Megaloblastic anemia, Cystathioninemia, Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioni... |
OMIM:277400 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Thrombocytopenia |
ORPHA:96181 |
| Immunodeficiency 40 |
|
Thrombocytopenia, T lymphocytopenia |
OMIM:616433 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Thrombocytopenia, Neutropenia, Steatorrhea |
OMIM:617941 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Leukopenia, Thrombocytopenia, Aplastic anemia, Pancytopenia |
OMIM:613990 |
| Lysinuric Protein Intolerance |
|
Leukopenia, Anemia, Intraalveolar phospholipid accumulation, Increased circulating ferritin conce... |
OMIM:222700 |
| Pediatric-Onset Graves Disease |
|
Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia, Splenomegaly |
ORPHA:525731 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Leukopenia, Anemia, Hypoplasia of the thymus, Erythroid hypoplasia, Hepatosplenomegaly, Lymphopen... |
OMIM:612541 |
| Immunodeficiency 47 |
|
Leukopenia, Normocytic anemia, Decreased circulating copper concentration, Accessory spleen, Hype... |
OMIM:300972 |
| Castleman Disease |
|
Decreased mean corpuscular volume, Thrombocytopenia, Elevated circulating C-reactive protein conc... |
ORPHA:160 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Thrombocytopenia, Aplastic anemia, Pancytopenia |
OMIM:224230 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Reduced haptoglobin level, Leukopenia, Anemia, Hemolytic anemia, Unconjugated hyperbilirubinemia,... |
ORPHA:447 |
| Pediatric Systemic Lupus Erythematosus |
|
Leukopenia, Thrombocytopenia, Microangiopathic hemolytic anemia, Lymphopenia |
ORPHA:93552 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Thrombocytopenia |
OMIM:611126 |
| Noonan Syndrome 14 |
|
Lymphopenia, Lateral ventricle dilatation |
OMIM:619745 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Lymphocytosis, Thrombocytopenia, Decreased mean platelet volume, Elevated circulating C-reactive ... |
OMIM:617718 |
| Kasabach-Merritt Syndrome |
|
Leukopenia, Anemia, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Neutrop... |
ORPHA:2330 |
| Hepatocellular Carcinoma |
|
Anemia, Hypokalemia, Hyperbilirubinemia, Polycythemia, Thrombocytosis, Hypercalcemia, Hyponatremi... |
ORPHA:88673 |
| Cog5-Cdg |
|
Lateral ventricle dilatation, Hepatosplenomegaly |
ORPHA:263487 |
| Aicardi-Goutieres Syndrome 9 |
|
Anemia, Hemolytic anemia, Lateral ventricle dilatation, Hepatosplenomegaly |
OMIM:619487 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Ventriculomegaly, Agenesis of corpus callosum, Colpocephaly |
OMIM:617260 |
| Immunodeficiency 22 |
|
Thrombocytopenia, Anemia, Decreased proportion of CD4-positive helper T cells |
OMIM:615758 |
| Pseudo-Torch Syndrome 1 |
|
Thrombocytopenia, Splenomegaly |
OMIM:251290 |
| Ebola Hemorrhagic Fever |
|
Leukopenia, Thrombocytopenia, Lymphopenia |
ORPHA:319218 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hydrocephalus, Pigmentary retinopathy, Agenesis of corpus callosum, Colpocephaly |
OMIM:309801 |
| Alg12-Cdg |
|
B lymphocytopenia, Hyponatremia, Hypocholesterolemia, Thrombocytopenia, Hypoalbuminemia |
ORPHA:79324 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Leukopenia, Thrombocytopenia, Neutropenia |
OMIM:616271 |
| Congenital Erythropoietic Porphyria |
|
Reduced haptoglobin level, Leukopenia, Abnormal circulating porphyrin concentration, Hemolytic an... |
ORPHA:79277 |
| Fanconi Anemia, Complementation Group C |
|
Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Neutropenia, Leukemia |
OMIM:227645 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Lateral ventricle dilatation |
ORPHA:565624 |
| Wilson Disease |
|
Anemia, Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Increased circulatin... |
OMIM:277900 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Thrombocytopenia, Neutropenia, Splenomegaly |
OMIM:308230 |
| Aicardi Syndrome |
|
Gray matter heterotopia, Dilated third ventricle, Lateral ventricle dilatation, Spina bifida, Cho... |
OMIM:304050 |
| Blackfan-Diamond Anemia |
|
Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Pure red cell aplasia, Erythroid hypoplasi... |
ORPHA:124 |
| Lujo Hemorrhagic Fever |
|
Leukopenia, Lymphopenia, Elevated circulating C-reactive protein concentration, Leukocytosis, Thr... |
ORPHA:319213 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Agenesis of corpus callosum, Lateral ventricle dilatation, Hyperpigmented streaks |
OMIM:300952 |
| Good Syndrome |
|
Anemia, Thrombocytopenia, Abnormal leukocyte morphology |
ORPHA:169105 |
| Noonan Syndrome 4 |
|
Thrombocytopenia |
OMIM:610733 |
| Immunodeficiency 87 And Autoimmunity |
|
Decreased CD4:CD8 ratio, Hemolytic anemia, Hypokalemia, Lymphopenia, Decreased proportion of CD4-... |
OMIM:619573 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Gray matter heterotopia, Polymicrogyria, Holoprosencephaly, Dysplastic corpus callosum, Agenesis ... |
OMIM:618820 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Thrombocytopenia, High nonceruloplasmin-bound serum copper |
ORPHA:457351 |
| Catastrophic Antiphospholipid Syndrome |
|
Coombs-positive hemolytic anemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
ORPHA:464343 |
| Shigellosis |
|
Microangiopathic hemolytic anemia, Abnormal blood ion concentration, Leukocytosis, Hyponatremia, ... |
ORPHA:810 |
| Fanconi Anemia, Complementation Group B |
|
Aplastic anemia, Thrombocytopenia |
OMIM:300514 |
| Distal Monosomy 10Q |
|
Spina bifida occulta, Lateral ventricle dilatation |
ORPHA:96148 |
| Wiskott-Aldrich Syndrome |
|
Anemia, Hypoplasia of the thymus, Hemolytic anemia, Abnormal platelet function, Abnormal eosinoph... |
ORPHA:906 |
| Adams-Oliver Syndrome |
|
Leukopenia, Thrombocytopenia |
ORPHA:974 |
| Aicardi-Goutieres Syndrome 1 |
|
Thrombocytopenia, Splenomegaly |
OMIM:225750 |
| Kohlschutter-Tonz Syndrome-Like |
|
Ventriculomegaly, Lateral ventricle dilatation, Death in adolescence |
OMIM:619229 |
| Pearson Syndrome |
|
Anemia, Hyperalaninemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Reticulocytosis, Pancytopen... |
ORPHA:699 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Dilated third ventricle, Dysplastic corpus callosum, Lateral ventricle dilatation |
ORPHA:544488 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Abnormal circulating lipid concentration, Hypersplenism, Acute promyelocytic leukemia, Autoimmune... |
ORPHA:77293 |
| Gaucher Disease, Perinatal Lethal |
|
Thrombocytopenia, Splenomegaly, Anemia, Hepatosplenomegaly |
OMIM:608013 |
| Mosaic Trisomy 1 |
|
Agenesis of corpus callosum, Lateral ventricle dilatation, Polymicrogyria |
ORPHA:1692 |
| Ivic Syndrome |
|
Thrombocytopenia, Leukocytosis |
ORPHA:2307 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Gray matter heterotopia, Colpocephaly, Abnormal cortical gyration, Lateral ventricle dilatation, ... |
OMIM:210710 |
| Takenouchi-Kosaki Syndrome |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:616737 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Megaloblastic anemia, Methylmalonic acidemia, Hyperhomocystinemia, Elevated circulating palmitole... |
ORPHA:79282 |
| Diamond-Blackfan Anemia 21 |
|
Anemia, Thrombocytopenia, Erythroid hypoplasia |
OMIM:620072 |
| Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Choroid plexus cyst, Lateral ventricle dilatation |
ORPHA:293725 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Lateral ventricle dilatation |
ORPHA:457279 |
| Insulin-Resistance Syndrome Type B |
|
Leukopenia, Abnormal circulating lipid concentration, Abnormal circulating fatty-acid concentrati... |
ORPHA:2298 |
| Holoprosencephaly 13, X-Linked |
|
Agenesis of corpus callosum, Semilobar holoprosencephaly, Alobar holoprosencephaly, Colpocephaly |
OMIM:301043 |
| Bainbridge-Ropers Syndrome |
|
Lateral ventricle dilatation, Death in infancy |
OMIM:615485 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Dilated third ventricle, Hydrocephalus, Lateral ventricle dilatation |
OMIM:619575 |
| Kaposiform Lymphangiomatosis |
|
Anemia, Abnormal spleen morphology, Hepatosplenomegaly, Thrombocytopenia, Splenomegaly |
ORPHA:464329 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Leukopenia, Anemia, Hepatosplenomegaly, Thrombocytopenia, Hypoalbuminemia |
ORPHA:505248 |
| Marburg Hemorrhagic Fever |
|
Leukopenia, Hypokalemia, Reticulocytosis, Lymphopenia, Elevated circulating creatine kinase conce... |
ORPHA:99826 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Neonatal alloimmune thrombocytopenia |
ORPHA:853 |
| 6Q Terminal Deletion Syndrome |
|
Gray matter heterotopia, Periventricular heterotopia, Abnormality of neuronal migration, Polymicr... |
ORPHA:75857 |
| Farber Disease |
|
Thrombocytopenia, Anemia, Hepatosplenomegaly |
ORPHA:333 |
| Fanconi Anemia, Complementation Group F |
|
Leukopenia, Thrombocytopenia, Anemia |
OMIM:603467 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Leukopenia, Anemia, Elliptocytosis, Hypocalcemia, Pancytopenia, Elevated circulating creatine kin... |
ORPHA:2785 |
| Lathosterolosis |
|
Thrombocytopenia, Abnormal platelet morphology, Anisopoikilocytosis |
ORPHA:46059 |
| Hellp Syndrome |
|
Thrombocytopenia, Decreased mean corpuscular hemoglobin concentration, Microangiopathic hemolytic... |
ORPHA:244242 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Thrombocytopenia, Anemia |
ORPHA:261323 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Thrombocytopenia |
OMIM:612394 |
| Weaver Syndrome |
|
Melanocytic nevus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:277590 |
| Fanconi Anemia, Complementation Group D2 |
|
Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Neutropenia, Leukemia |
OMIM:227646 |
| Gaucher Disease, Type Ii |
|
Thrombocytopenia, Splenomegaly, Anemia |
OMIM:230900 |
| Caroli Syndrome |
|
Leukopenia, Hypersplenism, Hyperbilirubinemia, Leukocytosis, Thrombocytopenia, Conjugated hyperbi... |
ORPHA:480520 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Lymph... |
ORPHA:391487 |
| Prader-Willi Syndrome Due To Translocation |
|
Hypopigmentation of the skin, Lateral ventricle dilatation, Iris hypopigmentation, Hypopigmentati... |
ORPHA:177907 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Agenesis of corpus callosum, Lateral ventricle dilatation, Dilated third ventricle |
ORPHA:464738 |
| Tick-Borne Encephalitis |
|
Leukopenia, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Leukocytosis |
ORPHA:297 |
| Mogs-Cdg |
|
Thrombocytopenia, Hepatosplenomegaly |
ORPHA:79330 |
| Ivic Syndrome |
|
Thrombocytopenia, Leukocytosis |
OMIM:147750 |
| Aicardi-Goutieres Syndrome 7 |
|
Anemia, Hemolytic anemia, Pancytopenia, Increased circulating ferritin concentration, Thrombocyto... |
OMIM:615846 |
| Diamond-Blackfan Anemia 1 |
|
Reticulocytopenia, Thrombocytosis, Thrombocytopenia, Neutropenia, Elevated red cell adenosine dea... |
OMIM:105650 |
| Smith-Lemli-Opitz Syndrome |
|
Periventricular heterotopia, Death in infancy, Hydrocephalus, Holoprosencephaly, Partial agenesis... |
OMIM:270400 |
| Wiskott-Aldrich Syndrome |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Decreased proportion of CD8-pos... |
OMIM:301000 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Thrombocytopenia |
ORPHA:3320 |
| Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Colpocephaly |
OMIM:620083 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Lateral ventricle dilatation |
ORPHA:2822 |
| Idiopathic Hypereosinophilic Syndrome |
|
Anemia, Neutrophilia, Hepatosplenomegaly, Thrombocytosis, Eosinophilia, Myeloproliferative disord... |
ORPHA:3260 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Thrombocytopenia, Hypocalcemia, Hyperbilirubinemia, Anemia |
ORPHA:163979 |
| Dubowitz Syndrome |
|
Thrombocytopenia, Acute lymphoblastic leukemia, Anemia, Abnormality of neutrophils |
ORPHA:235 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Thrombocytopenia, Anemia |
OMIM:612199 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Abnormality of skin pigmentation, Gliosis, Lateral ventricle dilatation, Death in infancy |
OMIM:300868 |
| Q Fever |
|
Thrombocytopenia, Splenomegaly, Anemia, Hepatosplenomegaly |
ORPHA:781 |
| Gaucher Disease Type 3 |
|
Anemia, Thrombocytopenia, Splenomegaly, Pancytopenia |
ORPHA:77261 |
| Brucellosis |
|
Leukopenia, Anemia, Hypersplenism, Thrombocytosis, Leukocytosis, Elevated circulating C-reactive ... |
ORPHA:1304 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Hyperbilirubinemia |
ORPHA:464321 |
| Gabriele-De Vries Syndrome |
|
Lateral ventricle dilatation |
OMIM:617557 |
| Exercise-Induced Malignant Hyperthermia |
|
Hyperphosphatemia, Hypocalcemia, Hyperkalemia, Elevated circulating creatine kinase concentration... |
ORPHA:466650 |
| Stevens-Johnson Syndrome |
|
Thrombocytopenia, Anemia, Abnormality of neutrophils |
ORPHA:36426 |
| Hemorrhagic Fever-Renal Syndrome |
|
Anemia, Hyperphosphatemia, Hyperkalemia, Leukocytosis, Elevated circulating creatinine concentrat... |
ORPHA:340 |
| Kikuchi-Fujimoto Disease |
|
Leukopenia, Anemia, Lymphocytosis, Elevated circulating C-reactive protein concentration, Thrombo... |
ORPHA:50918 |
| Toxic Epidermal Necrolysis |
|
Thrombocytopenia, Neutropenia, Anemia |
ORPHA:537 |
| Alport Syndrome 1, X-Linked |
|
Thrombocytopenia |
OMIM:301050 |
| Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Thrombocytopenia, T lymphocytopenia, B lymphocytopenia |
OMIM:251260 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Hypocalcemia, Hyperkalemia, Leukocytosis, Hyponatremia, Thrombocytopenia |
ORPHA:544482 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Thrombocytopenia, Decreased hemoglobin concentration |
OMIM:619005 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Anemia, Lymphopenia, Severe B lymphocytopenia, Accessory spleen, Thrombocytopenia |
OMIM:620005 |
| Fibular Hemimelia |
|
Thrombocytopenia |
ORPHA:93323 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Ventriculomegaly, Lateral ventricle dilatation |
OMIM:619479 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Pachygyria, Lateral ventricle dilatation |
OMIM:263520 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hypercholesterolemia, Hyperaldosteronism, Anemia, Hypophosphatemia, Hypokalemia, Hyponatremia, Hy... |
ORPHA:534 |
| Dyskeratosis Congenita |
|
Thrombocytopenia, Splenomegaly, Anemia, Abnormality of neutrophils |
ORPHA:1775 |
| Rift Valley Fever |
|
Thrombocytopenia, Anemia |
ORPHA:319251 |
| Yellow Fever |
|
Hyperbilirubinemia, Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosi... |
ORPHA:99829 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Thrombocytopenia, Splenomegaly |
OMIM:301072 |
| Liver Disease, Severe Congenital |
|
Leukopenia, Anemia, Hyperalaninemia, Lymphocytosis, Hyperbilirubinemia, Elevated hepatic iron con... |
OMIM:619991 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Elevated circulating C-reactive protein concentration, T... |
OMIM:256040 |
| Cornelia De Lange Syndrome 1 |
|
Thrombocytopenia |
OMIM:122470 |
| Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Acute leukemia, Hemolytic anemia |
ORPHA:647 |
| Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Colpocephaly |
ORPHA:477993 |
| Porphyria, Congenital Erythropoietic |
|
Hemolytic anemia, Thrombocytopenia, Splenomegaly |
OMIM:263700 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Anemia, Hepatosplenomegaly, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:274000 |
| Gaucher Disease |
|
Anemia, Pancytopenia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Sp... |
ORPHA:355 |
| Ogden Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Hyperbilirubinemia, Polycythemia |
OMIM:300855 |
| Crimean-Congo Hemorrhagic Fever |
|
Leukopenia, Neutrophilia, Pancytopenia, Elevated circulating creatine kinase concentration, Leuko... |
ORPHA:99827 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Thrombocytopenia, Increased mean platelet volume |
ORPHA:487796 |
| Jacobsen Syndrome |
|
Thrombocytopenia |
OMIM:147791 |
| Deeah Syndrome |
|
Thrombocytopenia, Decreased hemoglobin concentration |
OMIM:619004 |
| 22Q11.2 Deletion Syndrome |
|
Abnormality of thrombocytes, Hypoplasia of the thymus, Thrombocytopenia, Hypocalcemia, Splenomegaly |
ORPHA:567 |
| Kabuki Syndrome 1 |
|
Cafe-au-lait spot, Hemolytic anemia, Lateral ventricle dilatation, Hydrocephalus, Autoimmune thro... |
OMIM:147920 |
| Helsmoortel-Van Der Aa Syndrome |
|
Ventriculomegaly, Lateral ventricle dilatation, Gliosis |
OMIM:615873 |
| Keppen-Lubinsky Syndrome |
|
Lateral ventricle dilatation |
OMIM:614098 |
| Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Leukopenia, Thrombocytopenia, Anemia |
ORPHA:84 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Anemia, Pancytopenia, Hepatosplenomegaly, Thrombocytopenia, Abnormality of the spleen, Splenomegaly |
ORPHA:2072 |
| Primary Sjögren Syndrome |
|
Leukopenia, Normocytic anemia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, ... |
ORPHA:289390 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hypersplenism, Hepatosplenomegaly, Increased serum bile acid concentration, Hyponatremia, Thrombo... |
ORPHA:731 |
| Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Leukopenia, Anemia, Pancytopenia, Thrombocytopenia |
OMIM:305000 |
| Hardikar Syndrome |
|
Hypersplenism, Hyperbilirubinemia, Hepatosplenomegaly, Thrombocytopenia, Splenomegaly |
OMIM:301068 |
| Jacobsen Syndrome |
|
Thrombocytopenia |
ORPHA:2308 |
| Neurocardiofaciodigital Syndrome |
|
Dilated fourth ventricle, Lateral ventricle dilatation |
OMIM:619869 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Decreased circulating IgG level, Ventriculomegaly, Lateral ventricle dilatation, Simplified gyral... |
ORPHA:500150 |
| Scalp-Ear-Nipple Syndrome |
|
Lateral ventricle dilatation |
OMIM:181270 |
| Genitopatellar Syndrome |
|
Agenesis of corpus callosum, Periventricular heterotopia, Pachygyria, Colpocephaly |
OMIM:606170 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Anemia, Thrombocytopenia, Splenomegaly, Microcytic anemia |
OMIM:619525 |
| Roberts Syndrome |
|
Thrombocytopenia |
ORPHA:3103 |
| Sarcoidosis |
|
Leukopenia, Anemia, Hemolytic anemia, Increased T cell count, Hypercalcemia, Eosinophilia, Thromb... |
ORPHA:797 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Lateral ventricle dilatation, Hydrocephalus, Pachygyria, Agenesis of corpus callosum, Polymicrogyria |
OMIM:607872 |
| Aicardi-Goutières Syndrome |
|
Neonatal alloimmune thrombocytopenia, Chronic lymphatic leukemia, Hepatosplenomegaly |
ORPHA:51 |
| Osteogenesis Imperfecta |
|
Thrombocytopenia |
ORPHA:666 |
| Acute Liver Failure |
|
Thrombocytopenia, Hyperammonemia |
ORPHA:90062 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Abnormal lateral ventricle morphology |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Abnormal lateral ventricle morphology |
ORPHA:353277 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Aqueductal stenosis, Lateral ventricle dilatation, Hydrocephalus, Neonatal death, Splenomegaly |
OMIM:619534 |
| Leptospirosis |
|
Hyperproteinemia, Thrombocytopenia |
ORPHA:509 |
| Choreoacanthocytosis |
|
Abnormal erythrocyte enzyme level, Splenomegaly, Acanthocytosis, Lateral ventricle dilatation |
ORPHA:2388 |
| Congenital Disorder Of Glycosylation, Type Iim |
|
Lateral ventricle dilatation |
OMIM:300896 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Thrombocytopenia |
ORPHA:79078 |
| Digeorge Syndrome |
|
Anemia, Hypoplasia of the thymus, Thrombocytopenia, Hypocalcemia, Splenomegaly |
OMIM:188400 |
| Noonan Syndrome 1 |
|
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia |
OMIM:163950 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Asplenia, Periventricular heterotopia, Lateral ventricle dilatation, Decreased circulating antibo... |
ORPHA:261537 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Asplenia, Periventricular heterotopia, Lateral ventricle dilatation, Decreased circulating antibo... |
ORPHA:261552 |
