Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Weakness of facial musculature, Angulated muscle fibers, Scapular winging, Shoulder girdle muscle... |
OMIM:619477 |
Macrophagic Myofasciitis |
|
Myalgia, Fatigue, Arthralgia |
ORPHA:592 |
Pontiac Fever |
|
Myalgia, Fatigue |
ORPHA:99748 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Muscular dystrophy, EMG: ... |
OMIM:253601 |
Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Neurodegeneration |
OMIM:613068 |
Diaminopentanuria |
|
Neurodegeneration, Ataxia |
OMIM:222350 |
Myofibrillar Myopathy 11 |
|
Increased variability in muscle fiber diameter, Z-band streaming, Centrally nucleated skeletal mu... |
OMIM:619178 |
Tremor, Hereditary Essential, 2 |
|
Fatigue |
OMIM:602134 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Ataxia |
OMIM:610951 |
Tuberculosis |
|
Fatigue |
ORPHA:3389 |
Amyotrophic Lateral Sclerosis |
|
Fatigable weakness of bulbar muscles, Motor neuron atrophy, Fatigable weakness of respiratory mus... |
ORPHA:803 |
Autosomal Dominant Spastic Paraplegia Type 37 |
|
Impaired vibration sensation in the lower limbs, Degeneration of the lateral corticospinal tracts... |
ORPHA:171612 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Muscular dystrophy, Skel... |
OMIM:613157 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Abdominal pain, Ragged-red muscle fibers, Fatigue |
OMIM:616794 |
Mantle Cell Lymphoma |
|
Fatigue |
ORPHA:52416 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Gait ataxia, Dysdiadochokinesis, Ataxia, Dysmetria, Cerebellar atrophy, Fatigue |
OMIM:614831 |
Cholangiocarcinoma |
|
Abdominal pain, Fatigue |
ORPHA:70567 |
Creatine Phosphokinase, Elevated Serum |
|
Muscular dystrophy, Abnormal muscle fiber morphology, EMG: myopathic abnormalities, Myalgia, Infl... |
OMIM:123320 |
Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Fatigue |
OMIM:618573 |
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency |
|
Arthrogryposis multiplex congenita, Fatigue |
OMIM:616326 |
Adiposis Dolorosa |
|
Chronic pain, Fatigue, Arthralgia |
OMIM:103200 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Knee flexion contracture, Exercise intolerance, Fatigue, Facial palsy |
OMIM:617239 |
Narcolepsy 3 |
|
Narcolepsy |
OMIM:609039 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Gait ataxia, Congenital diaphragmatic hernia, Cerebellar atrophy, Neurodegeneration |
ORPHA:438134 |
Hodgkin Lymphoma |
|
Chest pain, Fatigue, Ataxia, Bone pain |
ORPHA:98293 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Fatigue |
ORPHA:79283 |
Epiphyseal Dysplasia, Multiple, 2 |
|
Foot pain, Knee pain, Fatigue |
OMIM:600204 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Urinary incontinence, Dysdiadochokinesis, Ataxia, Dysmetria, Cerebellar atrophy, Atrophy/Degenera... |
OMIM:612319 |
Sengers Syndrome |
|
Myopathy, Fatigue, Exercise intolerance |
OMIM:212350 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Lower limb pain, Ataxia, Myalgia, Exercise intolerance, Chest pain, Ragged-red muscle fibers, Fat... |
ORPHA:1349 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
Alexander Disease |
|
Dysmetria, Ataxia, Fatigue |
OMIM:203450 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Knee flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Abnormal peripheral n... |
ORPHA:353327 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Ataxia, Hypomimic face, Dysdiadochokinesis, Fatigue |
OMIM:618049 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Fatigue |
ORPHA:79299 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Ragged-red muscle fibers, Myalgia, EMG: myopathic abnormalities, Exercise intolerance, Cerebral a... |
OMIM:609286 |
Undifferentiated Pleomorphic Sarcoma |
|
Fatigue |
ORPHA:2023 |
Narcolepsy 1 |
|
Narcolepsy |
OMIM:161400 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Distal arthrogryposis, Fatigable weakness, Fatigable weakness of neck muscles, Ataxia, Myopathy, ... |
ORPHA:42 |
Eosinophilic Fasciitis |
|
Paresthesia, Arthralgia, Myositis, Myalgia, Muscular edema, Fatigue |
ORPHA:3165 |
Hyperinsulinism Due To Insr Deficiency |
|
Fatigue |
ORPHA:263458 |
Methylmalonic Acidemia With Homocystinuria |
|
Fatigue |
ORPHA:26 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Chorea, Cerebral cortical atrophy, Ataxia, Cerebral atrophy, Cerebellar atrophy, Neurodegeneration |
OMIM:617672 |
Atypical Juvenile Parkinsonism |
|
Gait ataxia, Brain atrophy, Hypomimic face, Leg muscle stiffness, Fatigue |
ORPHA:391411 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Fatigue |
ORPHA:228312 |
Pediatric Hepatocellular Carcinoma |
|
Hepatic necrosis, Abdominal pain, Epigastric pain, Fatigue |
ORPHA:33402 |
Thymic Carcinoma |
|
Fatigable weakness, Chest pain, Fatigue |
ORPHA:99868 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Diffuse cerebral atrophy, Fatigue |
ORPHA:314632 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5 |
|
Gait ataxia, Ataxia, Myopathy, Exercise intolerance, Fatigue |
OMIM:613077 |
Familial Cold Urticaria |
|
Abdominal pain, Arthralgia, Myalgia, Dysesthesia, Fatigue |
ORPHA:47045 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Achilles tendon contracture, Left ventricular hypertrophy, EMG: myopathic abnormalities, Myalgia,... |
OMIM:615418 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Corpus callosum atrophy, Ataxia, Myalgia, Weakness of facial musculature, Myopathy, Skeletal musc... |
ORPHA:98673 |
Thyroid Hemiagenesis |
|
Macroglossia, Fatigue |
ORPHA:95719 |
Mitochondrial Myopathy With Lactic Acidosis |
|
Dysmetria, Fatigue |
OMIM:251950 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Gait ataxia, Truncal ataxia, Limb ataxia, Ataxia, Myalgia, Dysesthesia, Cerebellar atrophy, Limb ... |
OMIM:619259 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Increased cerebral lipofuscin, Chronic fatigue, Bone pain |
OMIM:610539 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Neurodegeneration, Ataxia |
OMIM:615889 |
Postpoliomyelitis Syndrome |
|
Pain, Myalgia, Arthralgia, Skeletal muscle atrophy, Fatigue |
ORPHA:2942 |
Athyreosis |
|
Macroglossia, Fatigue |
ORPHA:95713 |
Liposarcoma |
|
Abdominal pain, Paresthesia, Fatigue |
ORPHA:69078 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Myopathy, Left ventricular hypertrophy, Fatigue, Exercise intolerance |
OMIM:617713 |
Mucolipidosis Type Iii |
|
Fatigue |
ORPHA:577 |
Narcolepsy 7 |
|
Narcolepsy |
OMIM:614250 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Impaired vibration sensation at ankles, Flexion contracture, Ataxia, Impaired proprioception, Dys... |
OMIM:615491 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Gait ataxia, Cerebral cortical atrophy, Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Skele... |
OMIM:615157 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Postexertional symptom exacerbation, Rhabdomyolysis, Glycogen accumulation in muscle fiber lysoso... |
ORPHA:368 |
Spontaneous Periodic Hypothermia |
|
Ataxia, Fatigue |
ORPHA:29822 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Spinal muscular atrophy, Chronic fatigue, Myalgia, Weakness of facial musculature, Myopathy, Skel... |
ORPHA:254875 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Limb-girdle muscle weakness, Myopathy, Ataxia, Fatigue |
ORPHA:1215 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Somatic sensory dysfunction, Limb-girdle muscle weakness, Distal amyotrophy, Upper limb muscle we... |
ORPHA:466768 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Fatigue |
ORPHA:86893 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Fatigable weakness, Myopathy, Fatigue |
ORPHA:257 |
Analbuminemia |
|
Patent ductus arteriosus, Fatigue |
OMIM:616000 |
Becker Muscular Dystrophy |
|
Myalgia, Exercise intolerance, Skeletal muscle atrophy, Fatigue |
ORPHA:98895 |
Dopa-Responsive Dystonia |
|
Fatigable weakness, Urinary incontinence, Fatigue, Pain |
ORPHA:255 |
Laryngeal Neuroendocrine Tumor |
|
Chronic fatigue |
ORPHA:100083 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Distal amyotrophy, Neurodegeneration |
OMIM:615643 |
Classic Hodgkin Lymphoma |
|
Chest pain, Fatigue, Ataxia, Bone pain |
ORPHA:391 |
Typhoid |
|
Abdominal pain, Ataxia, Arthralgia, Myalgia, Fatigue |
ORPHA:99745 |
Schnitzler Syndrome |
|
Myalgia, Fatigue, Arthralgia, Bone pain |
ORPHA:37748 |
Pfapa Syndrome |
|
Abdominal pain, Fatigue, Arthralgia |
ORPHA:42642 |
Unclassified Myelodysplastic Syndrome |
|
Night sweats, Fatigue |
ORPHA:98827 |
X-Linked Sideroblastic Anemia |
|
Fatigue |
ORPHA:75563 |
Poliomyelitis |
|
Paresthesia, Abnormal skeletal muscle morphology, Lower limb muscle weakness, Fatigable weakness ... |
ORPHA:2912 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Myalgia, Skeletal muscle atrophy, Fatigue, Arthralgia |
ORPHA:230839 |
Porphyria |
|
Paresthesia, Abdominal pain, Dupuytren contracture, Chest pain, Fatigue |
ORPHA:738 |
Arachnoiditis |
|
Paresthesia, Fatigue, Arthralgia |
ORPHA:137817 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Decreased level of coenzyme Q10 in skeletal muscle, Diffuse cerebral atrophy, Ataxia, Cerebellar ... |
OMIM:607426 |
Follicular Lymphoma |
|
Night sweats, Fatigue |
ORPHA:545 |
Immunodeficiency, Common Variable, 11 |
|
Fatigue |
OMIM:615767 |
Adrenoleukodystrophy |
|
Urinary incontinence, Impaired vibration sensation at ankles, Lower limb muscle weakness, Truncal... |
OMIM:300100 |
Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Chronic fatigue |
OMIM:234810 |
Familial Cold Autoinflammatory Syndrome 1 |
|
Myalgia, Chills, Arthralgia, Fatigue |
OMIM:120100 |
Hypotonia-Cystinuria Syndrome |
|
Fatigue |
ORPHA:163690 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Fatigue |
ORPHA:589905 |
Intellectual Developmental Disorder, Autosomal Dominant 35 |
|
Gait ataxia, Facial hypotonia, Congenital muscular torticollis, Fatigue |
OMIM:616355 |
Hemochromatosis, Type 4 |
|
Arthralgia, Fatigue |
OMIM:606069 |
Babesiosis |
|
Myalgia, Fatigue, Arthralgia |
ORPHA:108 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Knee flexion contracture, Flexion contracture, Brain atrophy, Joint contracture of the hand, Elbo... |
OMIM:214150 |
Intellectual Disability And Myopathy Syndrome |
|
Achilles tendon contracture, Fatigue |
OMIM:619719 |
Adrenomyeloneuropathy |
|
Urinary incontinence, Back pain, Axonal degeneration, Atrophy/Degeneration involving the corticos... |
ORPHA:139399 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Neuronal loss in central nervous system, Weakness of facial musculature, Myopathy, Skeletal muscl... |
OMIM:616239 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Fatigue |
OMIM:618549 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Ataxia, Hypomimic face, Dysdiadochokinesis, Fatigue |
ORPHA:352649 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Fatigue |
ORPHA:276608 |
Nipah Virus Disease |
|
Myalgia, Fatigue |
ORPHA:99825 |
Liddle Syndrome |
|
Fatigue |
ORPHA:526 |
Lyme Disease |
|
Myalgia, Paresthesia, Fatigue, Arthralgia |
ORPHA:91546 |
Mal De Débarquement |
|
Fatigue |
ORPHA:210272 |
Spinal Arteriovenous Metameric Syndrome |
|
Arthralgia, Bone pain, Gangrene, Fatigue |
ORPHA:53721 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Sudden cardiac death, Skeletal muscle atrophy, Fatigue |
ORPHA:156 |
Mast Cell Sarcoma |
|
Fatigue |
ORPHA:66661 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Global brain atrophy, Brain atrophy, Torticollis, Ataxia, Fatigue |
OMIM:617186 |
Atrial Standstill |
|
Flexion contracture, Postexertional symptom exacerbation, Muscular dystrophy, Left ventricular no... |
ORPHA:1344 |
Takayasu Arteritis |
|
Gangrene, Arthralgia, Myalgia, Chest pain, Fatigue |
ORPHA:3287 |
Genetic Hyperferritinemia Without Iron Overload |
|
Fatigue, Arthralgia |
ORPHA:254704 |
Rheumatic Fever |
|
Chorea, Aplasia/Hypoplasia of the abdominal wall musculature, Abdominal pain, Arthralgia, Chest p... |
ORPHA:3099 |
Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Abdominal pain, Fatigue, Arthralgia |
OMIM:615399 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Myositis, Fatigue, Arthralgia |
ORPHA:69126 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Ataxia, Neuronal loss in central nervous system, Cerebral atrophy, Cerebellar atrophy, Neurodegen... |
OMIM:256600 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Pulmonary Hypertension, Primary, 5 |
|
Right ventricular hypertrophy, Fatigue |
OMIM:265400 |
Primary Familial Polycythemia |
|
Abdominal pain, Fatigue, Arthralgia |
ORPHA:90042 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Fatigue |
ORPHA:231401 |
Hyperprolinemia Type 2 |
|
Abdominal pain, Chronic fatigue, Myalgia, Exercise intolerance, Dysesthesia, Distal sensory impai... |
ORPHA:79101 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Leg muscle stiffness, Distal sensory impairment, Fatigue |
OMIM:606693 |
Hemochromatosis, Type 3 |
|
Fatigue |
OMIM:604250 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Chorea, Choreoathetosis, Hypomimic face, Ataxia, Neurodegeneration |
OMIM:606159 |
Autoinflammation With Infantile Enterocolitis |
|
Myalgia, Fatigue, Arthralgia |
OMIM:616050 |
Satoyoshi Syndrome |
|
Skeletal muscle hypertrophy, Fatigue |
OMIM:600705 |
Osteopetrosis, Autosomal Dominant 3 |
|
Asthenia, Fatigue |
OMIM:618107 |
Angiostrongyliasis |
|
Paresthesia, Abdominal pain, Arthralgia, Pain, Myalgia, Hyperesthesia, Neck pain, Fatigue |
ORPHA:74 |
Cold Agglutinin Disease |
|
Back pain, Fatigue, Arthralgia |
ORPHA:56425 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Ataxia, Fatigue |
ORPHA:927 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Chest pain, Fatigue |
ORPHA:422 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Gait ataxia, Impaired vibration sensation in the lower limbs, Torticollis, Ataxia, Progressive fl... |
ORPHA:98808 |
New-Onset Refractory Status Epilepticus |
|
Global brain atrophy, Fatigue |
ORPHA:363558 |
Glycogen Storage Disease Ixa1 |
|
Fatigue |
OMIM:306000 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Narcolepsy, Head tremor, Resting tremor |
ORPHA:314404 |
Rheumatoid Arthritis |
|
Digital flexor tenosynovitis, Fatigue, Arthralgia |
OMIM:180300 |
Refractory Anemia |
|
Fatigue |
ORPHA:98826 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Cerebellar atrophy, Flexion contracture, Neurodegeneration, Ataxia |
OMIM:615919 |
Isolated Agammaglobulinemia |
|
Fatigue |
ORPHA:229717 |
Leishmaniasis |
|
Night sweats, Fatigue, Arthralgia |
ORPHA:507 |
Myotonia Fluctuans |
|
Myalgia, Spasticity of facial muscles, Fatigue |
ORPHA:99734 |
Dubin-Johnson Syndrome |
|
Abdominal pain, Fatigue |
ORPHA:234 |
Cryptogenic Organizing Pneumonia |
|
Chest pain, Night sweats, Fatigue, Arthralgia |
ORPHA:1302 |
Insulinoma |
|
Paresthesia, Abnormality of pain sensation, Fatigue |
ORPHA:97279 |
Hsd10 Disease, Infantile Type |
|
Frontotemporal cerebral atrophy, Choreoathetosis, Diffuse cerebral atrophy, Cerebral atrophy, Neu... |
ORPHA:391428 |
Polymyositis |
|
Abnormal muscle fiber morphology, Abdominal pain, Arthralgia, Myalgia, Fatigue |
ORPHA:732 |
Non-Functioning Paraganglioma |
|
Episodic abdominal pain, Chest pain, Fatigue |
ORPHA:94080 |
Benign Recurrent Intrahepatic Cholestasis |
|
Abdominal pain, Fatigue |
ORPHA:65682 |
Cholestasis-Lymphedema Syndrome |
|
Abdominal pain, Bone pain, Fatigue |
ORPHA:1414 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Gait ataxia, Shoulder girdle muscle weakness, Left ventricular hypertrophy, Hypomimic face, Ataxi... |
ORPHA:254892 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Patent ductus arteriosus, Scapular winging, Pain insensitivity, Fatigue |
OMIM:617061 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Flexion contracture, Fatigue |
ORPHA:98791 |
Krabbe Disease |
|
Neurodegeneration, Diffuse cerebral atrophy |
OMIM:245200 |
Whipple Disease |
|
Abdominal pain, Ataxia, Arthralgia, Myositis, Myalgia, Chest pain, Fatigue |
ORPHA:3452 |
Gm2 Gangliosidosis, Ab Variant |
|
Chorea, Neurodegeneration, Cerebral atrophy |
ORPHA:309246 |
Proximal Spinal Muscular Atrophy |
|
Knee flexion contracture, Flexion contracture, Multiple joint contractures, Triceps weakness, Elb... |
ORPHA:70 |
Adiposis Dolorosa |
|
Paresthesia, Fatigue, Arthralgia |
ORPHA:36397 |
Muckle-Wells Syndrome |
|
Myalgia, Chronic fatigue, Arthralgia |
OMIM:191900 |
Pituicytoma |
|
Fatigue |
ORPHA:251623 |
Legionnaires Disease |
|
Abdominal pain, Ataxia, Arthralgia, Myalgia, Chest pain, Fatigue |
ORPHA:549 |
Fixed Drug Eruption |
|
Chills, Fatigue |
ORPHA:293812 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Fatigue |
OMIM:274300 |
Aggressive Systemic Mastocytosis |
|
Abdominal pain, Abdominal cramps, Arthralgia, Constitutional symptom, Fatigue, Bone pain |
ORPHA:98850 |
Relapsing Fever |
|
Abdominal pain, Arthralgia, Myalgia, Chills, Fatigue |
ORPHA:91547 |
Cronkhite-Canada Syndrome |
|
Abdominal pain, Fatigue |
ORPHA:2930 |
Corticosteroid-Binding Globulin Deficiency |
|
Asthenia, Fatigue |
OMIM:611489 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Gait ataxia, Chorea, Dysdiadochokinesis, Dysmetria, Cerebral atrophy, Cerebellar atrophy, Neurode... |
OMIM:610217 |
Autoimmune Hemolytic Anemia |
|
Abdominal pain, Fatigue |
ORPHA:98375 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Fatigue, Arthralgia |
ORPHA:90036 |
Erythrocytosis, Familial, 1 |
|
Fatigue |
OMIM:133100 |
Glioblastoma |
|
Fatigue |
ORPHA:360 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Exaggerated startle response, Blepharospasm, Limb dystonia, Torticollis, Choreoathetosis, Oculogy... |
OMIM:608643 |
Evans Syndrome |
|
Fatigue |
ORPHA:1959 |
Giant Cell Arteritis |
|
Sudden cardiac death, Paresthesia, Gangrene, Abdominal pain, Ataxia, Arthralgia, Myalgia, Fatigue |
ORPHA:397 |
Progressive Supranuclear Palsy |
|
Neuronal loss in central nervous system, Abnormal synaptic transmission, Cerebral cortical atrophy |
ORPHA:683 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Fatigue |
OMIM:241150 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Myalgia, Exercise-induced myalgia, Exercise intolerance, Fatigue |
OMIM:618250 |
Adult-Onset Still Disease |
|
Myalgia, Abdominal pain, Fatigue, Arthralgia |
ORPHA:829 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Abdominal pain, Arthralgia, Myositis, Myalgia, Central nervous system degeneration, Fatigue |
ORPHA:183 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Loeffler Endocarditis |
|
Chest pain, Left ventricular hypertrophy, Fatigue |
ORPHA:75566 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Fatigue |
ORPHA:90037 |
Kaposi Sarcoma |
|
Fatigue |
ORPHA:33276 |
Congenital Fiber-Type Disproportion Myopathy |
|
Knee flexion contracture, Fatigable weakness of bulbar muscles, Flexion contracture, Hip contract... |
ORPHA:2020 |
Thyroid Hypoplasia |
|
Macroglossia, Fatigue |
ORPHA:95720 |
Postorgasmic Illness Syndrome |
|
Fatigue |
ORPHA:279947 |
Systemic Capillary Leak Syndrome |
|
Myalgia, Constitutional symptom, Abdominal pain, Fatigue |
ORPHA:188 |
Immunodeficiency 70 |
|
Chronic fatigue |
OMIM:618969 |
Tick-Borne Encephalitis |
|
Somatic sensory dysfunction, Back pain, Fatigable weakness of respiratory muscles, Arthralgia, My... |
ORPHA:297 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
Chronic Beryllium Disease |
|
Fatigue |
ORPHA:133 |
Acquired Methemoglobinemia |
|
Abdominal pain, Fatigue |
ORPHA:464453 |
Portal Hypertension, Noncirrhotic, 2 |
|
Fatigue |
OMIM:619463 |
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Narcolepsy |
OMIM:604121 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Bone pain, Fatigue |
ORPHA:89937 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Neurodegeneration, Cerebral atrophy |
OMIM:300894 |
Aregenerative Anemia |
|
Fatigable weakness of skeletal muscles, Fatigue |
ORPHA:101096 |
Cinca Syndrome |
|
Myalgia, Fatigue, Arthralgia |
ORPHA:1451 |
Cystinosis |
|
Myopathy, Fatigue |
ORPHA:213 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Chills, Fatigue |
ORPHA:86884 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Limb-girdle muscle weakness, Rhabdomyolysis, Myalgia, Exercise intolerance, Skeletal muscle atrop... |
ORPHA:370 |
Avian Influenza |
|
Rhabdomyolysis, Abdominal pain, Myalgia, Chest pain, Fatigue |
ORPHA:454836 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Limb-girdle muscle weakness, Rhabdomyolysis, Pelvic girdle muscle weakness, Myalgia, Exercise int... |
ORPHA:79240 |
Alveolar Echinococcosis |
|
Chest pain, Abnormal skeletal muscle morphology, Low back pain, Abdominal pain, Epigastric pain, ... |
ORPHA:284 |
Autosomal Agammaglobulinemia |
|
Fatigue |
ORPHA:33110 |
Autoerythrocyte Sensitization Syndrome |
|
Epigastric pain, Asthenia, Arthralgia, Myalgia, Pain, Intramuscular hematoma, Fatigue |
ORPHA:324636 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Gait ataxia, Chorea, Left ventricular hypertrophy, Ataxia, Cerebral atrophy, Neurodegeneration |
OMIM:618321 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Lead Poisoning |
|
Somatic sensory dysfunction, Abdominal pain, Impairment of activities of daily living, Abdominal ... |
ORPHA:330015 |
Acute Interstitial Pneumonia |
|
Myalgia, Chest pain, Fatigue, Arthralgia |
ORPHA:79126 |
Primary Myelofibrosis |
|
Constitutional symptom, Flank pain, Fatigue |
ORPHA:824 |
Acute Transverse Myelitis |
|
Somatic sensory dysfunction, Urinary incontinence, Back pain, Paresthesia, Impaired proprioceptio... |
ORPHA:139417 |
Gm2-Gangliosidosis, Ab Variant |
|
Chorea, Neurodegeneration, Cerebral atrophy |
OMIM:272750 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Fatigue |
ORPHA:3226 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Flexion contracture, Fatigable weakness of respiratory muscles, Lower limb muscle weakness, Glyco... |
ORPHA:365 |
Post-Traumatic Pituitary Deficiency |
|
Fatigue |
ORPHA:95619 |
Ebstein Malformation Of The Tricuspid Valve |
|
Patent ductus arteriosus, Sudden cardiac death, Chest pain, Fatigue |
ORPHA:1880 |
Gitelman Syndrome |
|
Paresthesia, Rhabdomyolysis, Abdominal pain, Ataxia, Arthralgia, Fatigue |
OMIM:263800 |
Glucocorticoid Resistance, Generalized |
|
Fatigue |
OMIM:615962 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Fatigue, Arthralgia |
ORPHA:90033 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Abdominal pain, Decreased muscle mass, Fatigue, Arthralgia |
ORPHA:465508 |
X-Linked Agammaglobulinemia |
|
Fatigue |
ORPHA:47 |
Japanese Encephalitis |
|
Elbow flexion contracture, Choreoathetosis, Rigors, Abdominal pain, Myalgia, Chills, Skeletal mus... |
ORPHA:79139 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Global brain atrophy, Diffuse cerebellar atrophy, Axonal degeneration, Neurodegeneration |
ORPHA:478029 |
Botulism |
|
Abdominal pain, Fatigue |
ORPHA:1267 |
Herpes Simplex Virus Encephalitis |
|
Chills, Fatigue |
ORPHA:1930 |
Mixed Connective Tissue Disease |
|
Arthralgia, Myositis, Myalgia, Chest pain, Fatigue |
ORPHA:809 |
Barth Syndrome |
|
Exercise intolerance, Skeletal myopathy, Fatigue |
OMIM:302060 |
Iatrogenic Botulism |
|
Fatigue |
ORPHA:254509 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Gait ataxia, Rhabdomyolysis, Ataxia, Acute rhabdomyolysis, Cerebral atrophy, Neurodegeneration |
OMIM:616878 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Achilles tendon calcification, Fatigue |
OMIM:617994 |
Klatskin Tumor |
|
Abdominal pain, Fatigue |
ORPHA:99978 |
Atrial Septal Defect, Sinus Venosus Type |
|
Exercise intolerance, Fatigue |
ORPHA:99105 |
Parkinson Disease 20, Early-Onset |
|
Cerebral cortical atrophy, Leg muscle stiffness, Fatigue |
OMIM:615530 |
Cyclic Neutropenia |
|
Abdominal pain, Fatigue, Bone pain |
ORPHA:2686 |
Inhalational Botulism |
|
Fatigue |
ORPHA:254504 |
Idiopathic Pulmonary Hemosiderosis |
|
Fatigue |
ORPHA:99931 |
Congenital Isolated Acth Deficiency |
|
Fatigue |
ORPHA:199296 |
Vexas Syndrome |
|
Night sweats, Fatigue, Arthralgia |
OMIM:301054 |
Peripartum Cardiomyopathy |
|
Abdominal pain, Chest pain, Left ventricular hypertrophy, Fatigue |
ORPHA:563 |
Multiple System Atrophy 1, Susceptibility To |
|
Urinary incontinence, Skeletal muscle atrophy, Ataxia, Neurodegeneration |
OMIM:146500 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Fatigue |
OMIM:615954 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Ataxia, Cerebellar atrophy, Scapular winging, Neurodegeneration, Distal amyotrophy |
OMIM:614298 |
Acute Promyelocytic Leukemia |
|
Abdominal pain, Fatigue, Gangrene, Bone pain |
ORPHA:520 |
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Bilateral camptodactyly, Back pain, Fatigue |
OMIM:619234 |
Reynolds Syndrome |
|
Myalgia, Fatigue |
ORPHA:779 |
Erythrocytosis, Familial, 2 |
|
Fatigue |
OMIM:263400 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Fatigue, Bone pain |
ORPHA:324964 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Myalgia, Exercise intolerance, Skeletal muscle atrophy, Increased sarcoplasmic glycogen, Fatigue |
ORPHA:264580 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Fatigue |
ORPHA:263455 |
Malignant Atrophic Papulosis |
|
Chest pain, Abdominal pain, Pain insensitivity, Fatigue |
ORPHA:679 |
Poems Syndrome |
|
Hyperesthesia, Paresthesia, Fatigue, Pain |
ORPHA:2905 |
Inhalational Anthrax |
|
Fatigue |
ORPHA:247257 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Myalgia, Fatigue |
ORPHA:542323 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Low back pain, Night sweats, Fatigue |
ORPHA:2126 |
Bone Marrow Failure Syndrome 6 |
|
Myalgia, Chronic fatigue |
OMIM:618849 |
Simple Cryoglobulinemia |
|
Paresthesia, Abdominal pain, Arthralgia, Spontaneous pain sensation, Fatigue |
ORPHA:91139 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Left ventricular hypertrophy, Tendon rupture, Fatigue |
ORPHA:230851 |
Lynch Syndrome |
|
Abdominal pain, Flexion contracture, Paresthesia, Fatigue |
ORPHA:144 |
Acute Panmyelosis With Myelofibrosis |
|
Low back pain, Fatigue |
ORPHA:86843 |
Refractory Anemia With Excess Blasts |
|
Fatigue, Bone pain |
ORPHA:86839 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Immunodeficiency 97 With Autoinflammation |
|
Abdominal pain, Fatigue |
OMIM:619802 |
Chronic Myeloid Leukemia |
|
Fatigue |
ORPHA:521 |
Acute Monoblastic/Monocytic Leukemia |
|
Fatigue |
ORPHA:514 |
Familial Colorectal Cancer Type X |
|
Abdominal pain, Flexion contracture, Paresthesia, Fatigue |
ORPHA:440437 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
Cystic Echinococcosis |
|
Abnormality of the diaphragm, Epigastric pain, Fatigue |
ORPHA:400 |
Congenital Disorder Of Glycosylation, Type It |
|
Sudden cardiac death, Exercise intolerance, Rhabdomyolysis, Fatigue |
OMIM:614921 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response |
ORPHA:320406 |
Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Episodic abdominal pain, Chest pain, Fatigue |
ORPHA:276621 |
Juvenile Dermatomyositis |
|
Calcinosis, Abdominal pain, Arthralgia, Myositis, Myalgia, Fatigue |
ORPHA:93672 |
Mastocytosis |
|
Impaired temperature sensation, Fatigue |
ORPHA:98292 |
Igg4-Related Retroperitoneal Fibrosis |
|
Low back pain, Renal tubular epithelial necrosis, Abdominal pain, Pain, Flank pain, Fatigue |
ORPHA:49041 |
Macs Syndrome |
|
Fatigue |
OMIM:613075 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
Niemann-Pick Disease Type C |
|
Limb dystonia, Narcolepsy, Tremor, Axial dystonia, Dystonia, Intention tremor |
ORPHA:646 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Truncal titubation, Exaggerated startle response, Tremor |
OMIM:618056 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Opisthotonus |
OMIM:184850 |
Hennekam-Beemer Syndrome |
|
Camptodactyly of finger, Abdominal pain, Fatigue |
ORPHA:2135 |
Listeriosis |
|
Somatic sensory dysfunction, Back pain, Rhabdomyolysis, Abdominal pain, Ataxia, Arthralgia, Myalg... |
ORPHA:533 |
Congenital Gerbode Defect |
|
Chest pain, Right ventricular hypertrophy, Fatigue |
ORPHA:99095 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Lower limb pain, Fatigue |
OMIM:261990 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Abdominal pain, Bone pain, Arthralgia, Myalgia, Fatigue |
ORPHA:98849 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response |
OMIM:620114 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Fatigue |
ORPHA:98870 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Neurodegeneration, Ataxia |
OMIM:618476 |
Hereditary Xanthinuria |
|
Myopathy, Flank pain, Chronic fatigue |
ORPHA:3467 |
Waldenström Macroglobulinemia |
|
Ataxia, Fatigue |
ORPHA:33226 |
Cerebral Visual Impairment |
|
Central nervous system degeneration, Neurodegeneration |
ORPHA:447788 |
Shigellosis |
|
Rhabdomyolysis, Abdominal pain, Abdominal cramps, Asthenia, Fatigue |
ORPHA:810 |
Septo-Optic Dysplasia Spectrum |
|
Fatigue |
ORPHA:3157 |
Polycythemia Vera |
|
Abdominal pain, Fatigue, Arthralgia |
ORPHA:729 |
Functioning Gonadotropic Adenoma |
|
Fatigue |
ORPHA:91348 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Ataxia, Fatigue |
ORPHA:20 |
Neuroleptic Malignant Syndrome |
|
Chorea, Urinary incontinence, Rhabdomyolysis, Rigors, Fatigue |
ORPHA:94093 |
Gamma-Heavy Chain Disease |
|
Fatigue |
ORPHA:100026 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
Hellp Syndrome |
|
Back pain, Abdominal pain, Epigastric pain, Shoulder pain, Fatigue |
ORPHA:244242 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
Granulomatosis With Polyangiitis |
|
Myalgia, Asthenia, Gangrene, Fatigue |
OMIM:608710 |
Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response |
OMIM:616881 |
Isolated Right Ventricular Hypoplasia |
|
Fatigue |
ORPHA:439 |
Steinert Myotonic Dystrophy |
|
Fatigable weakness of bulbar muscles, Cerebral cortical atrophy, Abnormality of masticatory muscl... |
ORPHA:273 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Chest pain, Fatigue |
ORPHA:747 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Urinary incontinence, Global brain atrophy, Decreased muscle mass, Choreoathetosis, Ataxia, Cereb... |
OMIM:234200 |
Erdheim-Chester Disease |
|
Abdominal pain, Fatigue, Ataxia, Bone pain |
ORPHA:35687 |
Al Amyloidosis |
|
Macroglossia, Fatigue |
ORPHA:85443 |
Castleman Disease |
|
Constitutional symptom, Abdominal pain, Flank pain, Fatigue |
ORPHA:160 |
Mucopolysaccharidosis, Type Ii |
|
Flexion contracture, Neurodegeneration, Macroglossia |
OMIM:309900 |
Late-Onset Isolated Acth Deficiency |
|
Abdominal pain, Fatigue, Arthralgia |
ORPHA:199299 |
Pituitary Apoplexy |
|
Trigeminal neuralgia, Fatigue |
ORPHA:95613 |
Chediak-Higashi Syndrome |
|
Neurodegeneration, Foot dorsiflexor weakness, Ataxia |
OMIM:214500 |
Hepatocellular Carcinoma |
|
Hepatic necrosis, Abdominal pain, Bone pain, Epigastric pain, Constitutional symptom, Fatigue |
ORPHA:88673 |
Autoimmune Hepatitis |
|
Abdominal pain, Chronic fatigue, Arthralgia |
ORPHA:2137 |
Dopamine Beta-Hydroxylase Deficiency |
|
Chest pain, Fatigue |
ORPHA:230 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Fatigue |
ORPHA:300298 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Episodic abdominal pain, Chest pain, Fatigue |
ORPHA:29072 |
Xeroderma Pigmentosum |
|
Cerebral cortical atrophy, Fatigue, Ataxia, Arthralgia |
ORPHA:910 |
Behçet Disease |
|
Paresthesia, Gangrene, Abdominal pain, Ataxia, Arthralgia, Myositis, Myalgia, Fatigue |
ORPHA:117 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Fatigue |
ORPHA:99832 |
Kufor-Rakeb Syndrome |
|
Urinary incontinence, Cerebral cortical atrophy, Hypomimic face, Leg muscle stiffness, Bowel inco... |
ORPHA:306674 |
Mucopolysaccharidosis, Type Vii |
|
Flexion contracture, Neurodegeneration, Macroglossia |
OMIM:253220 |
Non-Functioning Pituitary Adenoma |
|
Fatigue |
ORPHA:91349 |
Renal Nutcracker Syndrome |
|
Abdominal pain, Flank pain, Fatigue |
ORPHA:71273 |
Lymphoid Interstitial Pneumonia |
|
Fatigue |
ORPHA:79128 |
Chikungunya |
|
Knee pain, Paresthesia, Shoulder pain, Myalgia, Arthralgia, Chills, Fatigue |
ORPHA:324625 |
Carney Triad |
|
Leiomyosarcoma, Abdominal pain, Fatigue |
ORPHA:139411 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, Dystonia |
ORPHA:438216 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Bone pain, Fatigue |
OMIM:600740 |
Hughes-Stovin Syndrome |
|
Chest pain, Fatigue |
ORPHA:228116 |
Asparagine Synthetase Deficiency |
|
Exaggerated startle response |
OMIM:615574 |
Hurler Syndrome |
|
Flexion contracture, Neurodegeneration, Macroglossia |
OMIM:607014 |
Multiple Myeloma |
|
Paresthesia, Fatigue, Bone pain |
ORPHA:29073 |
Gaucher Disease Type 3 |
|
Fatigue, Ataxia, Bone pain |
ORPHA:77261 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response |
OMIM:617864 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Macroglossia, Fatigue |
ORPHA:90674 |
Menkes Disease |
|
Chorea, Aplasia/Hypoplasia of the abdominal wall musculature, Fatigue |
ORPHA:565 |
Q Fever |
|
Myalgia, Night sweats, Fatigue |
ORPHA:781 |
Congenital Analbuminemia |
|
Fatigue |
ORPHA:86816 |
Prolactinoma |
|
Fatigue |
ORPHA:2965 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Episodic abdominal pain, Night sweats, Chronic fatigue |
ORPHA:100085 |
Pulmonary Alveolar Microlithiasis |
|
Fatigable weakness, Chest pain, Fatigue |
ORPHA:60025 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Torticollis, Abdominal pain, Ataxia, Neurodegeneration, Fatigue |
OMIM:619475 |
Arterial Tortuosity Syndrome |
|
Fatigue |
ORPHA:3342 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Neurodegeneration |
ORPHA:79244 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Myalgia, Fatigue, Arthralgia |
ORPHA:183675 |
Atrial Septal Defect, Ostium Primum Type |
|
Exercise intolerance, Left ventricular hypertrophy, Fatigue |
ORPHA:99106 |
Tay-Sachs Disease |
|
Exaggerated startle response, Tremor, Dystonia, Laryngeal dystonia |
ORPHA:845 |
Stevens-Johnson Syndrome |
|
Sudden cardiac death, Abdominal pain, Fatigue |
ORPHA:36426 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Abdominal pain, Fatigue |
ORPHA:567546 |
Immunodeficiency 58 |
|
Fatigue |
OMIM:618131 |
Toxic Epidermal Necrolysis |
|
Sudden cardiac death, Abdominal pain, Fatigue |
ORPHA:537 |
Primary Sjögren Syndrome |
|
Chorea, Somatic sensory dysfunction, Arthralgia, Myositis, Myalgia, Chronic pain, Fatigue |
ORPHA:289390 |
Acute Adrenal Insufficiency |
|
Abdominal pain, Fatigue, Arthralgia |
ORPHA:95409 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
Immunodeficiency 31C |
|
Skeletal muscle atrophy, Fatigue |
OMIM:614162 |
Hermansky-Pudlak Syndrome |
|
Abdominal pain, Fatigue |
ORPHA:79430 |
Fabry Disease |
|
Abdominal pain, Left ventricular hypertrophy, Arthralgia, Myalgia, Fatigue |
ORPHA:324 |
Gaucher Disease |
|
Abdominal pain, Ataxia, Arthralgia, Fatigue, Arthrogryposis multiplex congenita, Bone pain |
ORPHA:355 |
Sandhoff Disease |
|
Exaggerated startle response |
OMIM:268800 |
Granulomatosis With Polyangiitis |
|
Gangrene, Abdominal pain, Arthralgia, Myalgia, Chest pain, Fatigue |
ORPHA:900 |
Primary Biliary Cholangitis |
|
Fatigue |
ORPHA:186 |
Familial Glucocorticoid Deficiency |
|
Episodic abdominal pain, Chronic fatigue |
ORPHA:361 |
Kikuchi-Fujimoto Disease |
|
Night sweats, Ataxia, Arthralgia, Myalgia, Chills, Fatigue |
ORPHA:50918 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Abdominal pain, Fatigue |
ORPHA:309031 |
Hemorrhagic Fever-Renal Syndrome |
|
Back pain, Abdominal pain, Myalgia, Chills, Fatigue |
ORPHA:340 |
Brucellosis |
|
Chorea, Abdominal pain, Asthenia, Arthralgia, Chills, Fatigue |
ORPHA:1304 |
Dermatomyositis |
|
Gangrene, Arthralgia, Myalgia, Inflammatory myopathy, Fatigue |
ORPHA:221 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Narcolepsy |
ORPHA:293987 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Dystonia |
ORPHA:79255 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Dystonia |
ORPHA:521426 |
Gastrointestinal Stromal Tumor |
|
Fatigue |
ORPHA:44890 |
African Trypanosomiasis |
|
Narcolepsy, Tremor, Choreoathetosis |
ORPHA:3385 |
Loeys-Dietz Syndrome 6 |
|
Chronic fatigue, Arthralgia |
OMIM:619656 |
Familial Pancreatic Carcinoma |
|
Back pain, Abdominal pain, Chronic fatigue |
ORPHA:1333 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Episodic abdominal pain, Mandibular pain, Fatigue, Bone pain |
ORPHA:99880 |
Dehydrated Hereditary Stomatocytosis |
|
Episodic fatigue, Abdominal pain |
ORPHA:3202 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Fatigue, Arthralgia |
ORPHA:562639 |
Gallbladder Neuroendocrine Tumor |
|
Episodic abdominal pain, Chronic fatigue |
ORPHA:100086 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Fatigue |
ORPHA:293978 |
Coccidioidomycosis |
|
Myalgia, Chest pain, Fatigue |
ORPHA:228123 |
Malt Lymphoma |
|
Abdominal pain, Fatigue |
ORPHA:52417 |
Atrial Septal Defect, Coronary Sinus Type |
|
Exercise intolerance, Fatigue |
ORPHA:99104 |
Primary Sclerosing Cholangitis |
|
Abdominal pain, Generalized amyotrophy, Fatigue |
ORPHA:171 |
Parathyroid Carcinoma |
|
Episodic abdominal pain, Mandibular pain, Fatigue, Bone pain |
ORPHA:143 |
Sheehan Syndrome |
|
Chills, Chronic fatigue, Arthralgia |
ORPHA:91355 |
Zygomycosis |
|
Abdominal pain, Chest pain, Fatigue, Pain |
ORPHA:73263 |
Wiskott-Aldrich Syndrome |
|
Sudden cardiac death, Chest pain, Fatigue |
ORPHA:906 |
Exercise-Induced Malignant Hyperthermia |
|
Rhabdomyolysis, Ataxia, Fatigue |
ORPHA:466650 |
Acromegaly |
|
Paresthesia, Macroglossia, Fatigue, Arthralgia |
ORPHA:963 |
Somatomammotropinoma |
|
Paresthesia, Macroglossia, Fatigue, Arthralgia |
ORPHA:314769 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response |
OMIM:253800 |
Insulin-Resistance Syndrome Type B |
|
Fatigue |
ORPHA:2298 |
Lymphangioleiomyomatosis |
|
Abdominal pain, Chest pain, Fatigue |
ORPHA:538 |
Nocardiosis |
|
Night sweats, Chills, Chest pain, Ocular pain, Fatigue |
ORPHA:31204 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response |
OMIM:617527 |
Lymphatic Filariasis |
|
Fatigue, Pain |
ORPHA:2035 |
Secondary Intestinal Lymphangiectasia |
|
Abdominal colic, Fatigue |
ORPHA:90363 |
Addison Disease |
|
Abdominal pain, Fatigue, Arthralgia |
ORPHA:85138 |
Laubry-Pezzi Syndrome |
|
Patent ductus arteriosus, Chest pain, Left ventricular hypertrophy, Fatigue |
ORPHA:99094 |
Infection-Related Hemolytic Uremic Syndrome |
|
Abdominal pain, Abdominal cramps, Fatigue |
ORPHA:544482 |
Atrial Septal Defect, Ostium Secundum Type |
|
Exercise intolerance, Fatigue |
ORPHA:99103 |
Selective Igm Deficiency |
|
Chronic fatigue |
ORPHA:331235 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Macroglossia, Fatigue |
ORPHA:226307 |
Gaisböck Syndrome |
|
Epigastric pain, Fatigue |
ORPHA:90041 |
Hypermobile Ehlers-Danlos Syndrome |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Paresthesia, Tendon rupture, Arthralgia, My... |
ORPHA:285 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Renal tubular epithelial necrosis, Abdominal pain, Arthralgia, Myalgia, Flank pain, Ocular pain, ... |
ORPHA:91500 |
Kawasaki Disease |
|
Abdominal pain, Fatigue, Arthralgia |
ORPHA:2331 |
Tsh-Secreting Pituitary Adenoma |
|
Fatigue |
ORPHA:91347 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Abnormality of the extraocular muscles, Fatigue |
ORPHA:79078 |
Nijmegen Breakage Syndrome |
|
Neurodegeneration, Rhabdomyosarcoma |
OMIM:251260 |
Generalized Glucocorticoid Resistance Syndrome |
|
Fatigue |
ORPHA:786 |
Familial Hypocalciuric Hypercalcemia |
|
Episodic abdominal pain, Fatigue |
ORPHA:405 |
Ileal Neuroendocrine Tumor |
|
Episodic abdominal pain, Chronic fatigue |
ORPHA:100078 |
Jejunal Neuroendocrine Tumor |
|
Episodic abdominal pain, Chronic fatigue |
ORPHA:100077 |
Marfan Syndrome |
|
Myalgia, Skeletal muscle atrophy, Arthralgia/arthritis, Chronic fatigue |
ORPHA:558 |
Adenocarcinoma Of The Anal Canal |
|
Abdominal pain, Chronic fatigue |
ORPHA:424016 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Myalgia, Renal tubular epithelial necrosis, Vulvodynia, Fatigue |
ORPHA:95455 |
Somatostatinoma |
|
Episodic abdominal pain, Chronic fatigue |
ORPHA:97283 |
Plague |
|
Abdominal pain, Arthralgia, Chills, Chest pain, Fatigue |
ORPHA:707 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Fatigue |
ORPHA:70591 |
Vipoma |
|
Episodic abdominal pain, Chronic fatigue |
ORPHA:97282 |
Tetrasomy 9P |
|
Myositis, Fatigue |
ORPHA:3310 |
Eisenmenger Syndrome |
|
Patent ductus arteriosus, Chest pain, Exercise intolerance, Fatigue |
ORPHA:97214 |
Classical Ehlers-Danlos Syndrome |
|
Limb pain, Fatigue, Arthralgia |
ORPHA:287 |
Glucagonoma |
|
Episodic abdominal pain, Chronic fatigue |
ORPHA:97280 |
Witteveen-Kolk Syndrome |
|
Contracture of the distal interphalangeal joint of the 4th finger, Congenital diaphragmatic herni... |
OMIM:613406 |
Igg4-Related Kidney Disease |
|
Abdominal pain, Fatigue |
ORPHA:449395 |
Sarcoidosis |
|
Chest pain, Fatigue, Facial palsy |
ORPHA:797 |
Non-Acquired Panhypopituitarism |
|
Fatigue |
ORPHA:90695 |
Goodpasture Syndrome |
|
Chills, Chest pain, Fatigue |
OMIM:233450 |
Tropical Endomyocardial Fibrosis |
|
Myocardial calcification, Fatigue |
ORPHA:75565 |
Aneurysm-Osteoarthritis Syndrome |
|
Camptodactyly of finger, Left ventricular hypertrophy, Chronic fatigue, Patent ductus arteriosus |
ORPHA:284984 |
Primrose Syndrome |
|
Knee flexion contracture, Flexion contracture, Hip contracture, Ataxia, Skeletal muscle atrophy, ... |
OMIM:259050 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Fatigue |
ORPHA:95494 |
Loeys-Dietz Syndrome 3 |
|
Patent ductus arteriosus, Left ventricular hypertrophy, Camptodactyly, Chronic fatigue, Sudden death |
OMIM:613795 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Exaggerated startle response, Dystonia |
ORPHA:438213 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response |
OMIM:619522 |
Juvenile Polyposis Syndrome |
|
Abdominal pain, Chronic fatigue |
ORPHA:2929 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Patent ductus arteriosus, Fatigue |
ORPHA:99125 |