| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Fatigue, Scapular winging, Angulated muscle fibers, Shoulder girdle muscle weakness, Weakness of ... |
OMIM:619477 |
| Macrophagic Myofasciitis |
|
Fatigue, Arthralgia, Myalgia |
ORPHA:592 |
| Pontiac Fever |
|
Fatigue, Myalgia |
ORPHA:99748 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Fatigue, Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diame... |
OMIM:253601 |
| Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Neurodegeneration |
OMIM:613068 |
| Myofibrillar Myopathy 11 |
|
Fatigue, Centrally nucleated skeletal muscle fibers, Z-band streaming, Calf muscle hypertrophy, M... |
OMIM:619178 |
| Diaminopentanuria |
|
Neurodegeneration, Ataxia |
OMIM:222350 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Ataxia, Cerebral atrophy, Neurodegeneration |
OMIM:610951 |
| Amyotrophic Lateral Sclerosis |
|
Fatigue, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fatigable weakness of bulbar mus... |
ORPHA:803 |
| Tremor, Hereditary Essential, 2 |
|
Fatigue |
OMIM:602134 |
| Tuberculosis |
|
Fatigue |
ORPHA:3389 |
| Autosomal Dominant Spastic Paraplegia Type 37 |
|
Fatigue, Impaired vibration sensation in the lower limbs, Lower limb muscle weakness, Degeneratio... |
ORPHA:171612 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Fatigue, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increased vari... |
OMIM:613157 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Cerebellar atrophy, Fatigue, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis |
OMIM:614831 |
| Adiposis Dolorosa |
|
Fatigue, Arthralgia, Chronic pain |
OMIM:103200 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Fatigue, Ragged-red muscle fibers, Abdominal pain |
OMIM:616794 |
| Mantle Cell Lymphoma |
|
Fatigue |
ORPHA:52416 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
| Creatine Phosphokinase, Elevated Serum |
|
Fatigue, Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Myalgia, Muscular dys... |
OMIM:123320 |
| Cholangiocarcinoma |
|
Fatigue, Abdominal pain |
ORPHA:70567 |
| Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Fatigue |
OMIM:618573 |
| Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency |
|
Fatigue, Arthrogryposis multiplex congenita |
OMIM:616326 |
| Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Cerebellar atrophy, Neurodegeneration, Congenital diaphragmatic hernia, Gait ataxia |
ORPHA:438134 |
| Epiphyseal Dysplasia, Multiple, 2 |
|
Fatigue, Knee pain, Foot pain |
OMIM:600204 |
| Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Fatigue, Exercise intolerance, Ataxia, Ragged-red muscle fibers, Chest pain, Myalgia, Lower limb ... |
ORPHA:1349 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Fatigue |
ORPHA:79283 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Fatigue, Dysdiadochokinesis, Ataxia, Hypomimic face |
OMIM:618049 |
| Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Cerebellar atrophy, Ataxia, Urinary incontinence, Dysmetria, Dysdiadochokinesis, Neurodegeneratio... |
OMIM:612319 |
| Congenital Glucokinase-Related Hyperinsulinism |
|
Fatigue |
ORPHA:79299 |
| Alexander Disease |
|
Fatigue, Ataxia, Dysmetria |
OMIM:203450 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Scapular winging, Abnormal peripheral nervous system synaptic transmission, Facial palsy, General... |
ORPHA:353327 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Fatigue, Exercise intolerance, Ragged-red muscle fibers, Limb muscle weakness, Cerebral atrophy, ... |
OMIM:609286 |
| Undifferentiated Pleomorphic Sarcoma |
|
Fatigue |
ORPHA:2023 |
| Familial Atrial Fibrillation |
|
Exercise intolerance, Fatigue, Chest pain |
ORPHA:334 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Fatigue, Skeletal muscle atrophy, Ataxia, Fatigable weakness, Myopathy, Exercise-induced myalgia,... |
ORPHA:42 |
| Mitochondrial Myopathy With Lactic Acidosis |
|
Fatigue, Dysmetria |
OMIM:251950 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5 |
|
Exercise intolerance, Fatigue, Ataxia, Gait ataxia, Myopathy |
OMIM:613077 |
| Eosinophilic Fasciitis |
|
Fatigue, Myositis, Arthralgia, Paresthesia, Myalgia, Muscular edema |
ORPHA:3165 |
| Hyperinsulinism Due To Insr Deficiency |
|
Fatigue |
ORPHA:263458 |
| Methylmalonic Acidemia With Homocystinuria |
|
Fatigue |
ORPHA:26 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebellar atrophy, Ataxia, Chorea, Cerebral atrophy, Neurodegeneration, Cerebral cortical atrophy |
OMIM:617672 |
| Atypical Juvenile Parkinsonism |
|
Fatigue, Gait ataxia, Brain atrophy, Leg muscle stiffness, Hypomimic face |
ORPHA:391411 |
| Pediatric Hepatocellular Carcinoma |
|
Fatigue, Epigastric pain, Hepatic necrosis, Abdominal pain |
ORPHA:33402 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Fatigue, Diffuse cerebral atrophy |
ORPHA:314632 |
| Thymic Carcinoma |
|
Fatigable weakness, Fatigue, Chest pain |
ORPHA:99868 |
| Familial Cold Urticaria |
|
Fatigue, Abdominal pain, Dysesthesia, Arthralgia, Myalgia |
ORPHA:47045 |
| Autosomal Dominant Optic Atrophy, Classic Form |
|
Cerebellar atrophy, Skeletal muscle atrophy, Scapular winging, Fatigue, Ataxia, Corpus callosum a... |
ORPHA:98673 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Fatigue, Skeletal muscle atrophy, Exercise intolerance, Achilles tendon contracture, Ragged-red m... |
OMIM:615418 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Increased cerebral lipofuscin, Chronic fatigue, Bone pain |
OMIM:610539 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cerebellar atrophy, Fatigue, Ataxia, Dysesthesia, Limb ataxia, Gait ataxia, Myalgia, Truncal atax... |
OMIM:619259 |
| Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Fatigue, Proximal amyotrophy, Upper limb muscle weakness, Calf muscle hypertrophy, Lower limb mus... |
ORPHA:209335 |
| Thyroid Hemiagenesis |
|
Fatigue, Macroglossia |
ORPHA:95719 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Ataxia, Neurodegeneration |
OMIM:615889 |
| Postpoliomyelitis Syndrome |
|
Fatigue, Skeletal muscle atrophy, Arthralgia, Myalgia, Pain |
ORPHA:2942 |
| Liposarcoma |
|
Fatigue, Paresthesia, Abdominal pain |
ORPHA:69078 |
| Athyreosis |
|
Fatigue, Macroglossia |
ORPHA:95713 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Limb ataxia, Dysmetria, Gait ataxia, Cerebra... |
OMIM:615157 |
| Mucolipidosis Type Iii |
|
Fatigue |
ORPHA:577 |
| Spastic Paraplegia 79B, Autosomal Recessive |
|
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Flexion contracture, Impaired proprioce... |
OMIM:615491 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Fatigue, Skeletal muscle atrophy, Exercise intolerance, Glycogen accumulation in muscle fiber lys... |
ORPHA:368 |
| Spontaneous Periodic Hypothermia |
|
Fatigue, Ataxia |
ORPHA:29822 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Exercise intolerance, Skeletal muscle atrophy, Chronic fatigue, Spinal muscular atrophy, Myopathy... |
ORPHA:254875 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Fatigue, Limb-girdle muscle weakness, Ataxia, Myopathy |
ORPHA:1215 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Urinary incontinence, Hand muscle weakness, Limb-girdle muscle weakness, Upper limb muscle weakne... |
ORPHA:466768 |
| Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Fatigable weakness, Myopathy, Fatigue |
ORPHA:257 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Fatigue |
ORPHA:86893 |
| Narcolepsy 3 |
|
Narcolepsy |
OMIM:609039 |
| Sengers Syndrome |
|
Fatigue, Myopathy, Exercise intolerance, Sudden cardiac death |
OMIM:212350 |
| Analbuminemia |
|
Fatigue, Patent ductus arteriosus |
OMIM:616000 |
| Becker Muscular Dystrophy |
|
Exercise intolerance, Skeletal muscle atrophy, Fatigue, Myalgia |
ORPHA:98895 |
| Classic Hodgkin Lymphoma |
|
Fatigue, Bone pain, Chest pain, Ataxia |
ORPHA:391 |
| Typhoid |
|
Fatigue, Ataxia, Abdominal pain, Arthralgia, Myalgia |
ORPHA:99745 |
| Laryngeal Neuroendocrine Tumor |
|
Chronic fatigue |
ORPHA:100083 |
| Schnitzler Syndrome |
|
Fatigue, Arthralgia, Bone pain, Myalgia |
ORPHA:37748 |
| Poliomyelitis |
|
Fatigue, Skeletal muscle atrophy, Exercise intolerance, Hypoplasia of the musculature, Abnormal s... |
ORPHA:2912 |
| Neurodegeneration With Brain Iron Accumulation 6 |
|
Distal amyotrophy, Neurodegeneration |
OMIM:615643 |
| Pfapa Syndrome |
|
Fatigue, Arthralgia, Abdominal pain |
ORPHA:42642 |
| Unclassified Myelodysplastic Syndrome |
|
Fatigue, Night sweats |
ORPHA:98827 |
| Arachnoiditis |
|
Fatigue, Arthralgia, Paresthesia |
ORPHA:137817 |
| Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Fatigue, Skeletal muscle atrophy, Arthralgia, Myalgia |
ORPHA:230839 |
| X-Linked Sideroblastic Anemia |
|
Fatigue |
ORPHA:75563 |
| Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Chronic fatigue |
OMIM:234810 |
| Follicular Lymphoma |
|
Fatigue, Night sweats |
ORPHA:545 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Cerebellar atrophy, Fatigue, Diffuse cerebral atrophy, Ataxia, Ragged-red muscle fibers, Decrease... |
OMIM:607426 |
| Immunodeficiency, Common Variable, 11 |
|
Fatigue |
OMIM:615767 |
| Adrenoleukodystrophy |
|
Urinary incontinence, Bowel incontinence, Limb ataxia, Neurodegeneration, Truncal ataxia, Lower l... |
OMIM:300100 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Ataxia, Cerebral atrophy, Neurodegeneration, Neuronal loss in central nervous... |
OMIM:256600 |
| Houge-Janssens Syndrome 1 |
|
Fatigue, Congenital muscular torticollis, Facial hypotonia, Gait ataxia |
OMIM:616355 |
| Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Fatigue |
ORPHA:589905 |
| Familial Cold Autoinflammatory Syndrome 1 |
|
Fatigue, Chills, Arthralgia, Myalgia |
OMIM:120100 |
| Hypotonia-Cystinuria Syndrome |
|
Fatigue |
ORPHA:163690 |
| Congenital Myopathy 22A, Classic |
|
Fatigue, Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles ... |
OMIM:620351 |
| Intellectual Disability And Myopathy Syndrome |
|
Fatigue, Achilles tendon contracture |
OMIM:619719 |
| Narcolepsy 1 |
|
Narcolepsy |
OMIM:161400 |
| Hemochromatosis, Type 4 |
|
Fatigue, Arthralgia |
OMIM:606069 |
| Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Fatigue, Dysdiadochokinesis, Ataxia, Hypomimic face |
ORPHA:352649 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Flexion contracture, Elbow flexion contracture, Kne... |
OMIM:214150 |
| Babesiosis |
|
Fatigue, Arthralgia, Myalgia |
ORPHA:108 |
| Adrenomyeloneuropathy |
|
Back pain, Fatigue, Urinary incontinence, Bowel incontinence, Atrophy/Degeneration involving the ... |
ORPHA:139399 |
| Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Fatigue, Arthralgia, Abdominal pain |
OMIM:615399 |
| Hepatitis, Fulminant Viral, Susceptibility To |
|
Fatigue |
OMIM:618549 |
| Mal De Débarquement |
|
Fatigue |
ORPHA:210272 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Ragged-red muscle fibers, Myopathy, Neurodegeneratio... |
OMIM:616239 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Fatigue |
ORPHA:276608 |
| Liddle Syndrome |
|
Fatigue |
ORPHA:526 |
| Nipah Virus Disease |
|
Fatigue, Myalgia |
ORPHA:99825 |
| Lyme Disease |
|
Fatigue, Arthralgia, Paresthesia, Myalgia |
ORPHA:91546 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Fatigue, Torticollis, Ataxia, Brain atrophy, Global brain atrophy |
OMIM:617186 |
| Hyperprolinemia Type 2 |
|
Exercise intolerance, Chronic fatigue, Abdominal pain, Dysesthesia, Distal sensory impairment, My... |
ORPHA:79101 |
| Atrial Standstill |
|
Fatigue, Skeletal muscle atrophy, Flexion contracture, Left ventricular noncompaction, Muscular d... |
ORPHA:1344 |
| Takayasu Arteritis |
|
Fatigue, Chest pain, Arthralgia, Myalgia, Gangrene |
ORPHA:3287 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Fatigue, Skeletal muscle atrophy, Sudden cardiac death |
ORPHA:156 |
| Mast Cell Sarcoma |
|
Fatigue |
ORPHA:66661 |
| Spinal Arteriovenous Metameric Syndrome |
|
Fatigue, Gangrene, Arthralgia, Bone pain |
ORPHA:53721 |
| Genetic Hyperferritinemia Without Iron Overload |
|
Fatigue, Arthralgia |
ORPHA:254704 |
| Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Fatigue, Exercise intolerance, Fatigable weakness of skeletal muscles, Knee flexion contracture, ... |
OMIM:617239 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
| Papa Syndrome |
|
Fatigue, Myositis, Arthralgia |
ORPHA:69126 |
| Rheumatic Fever |
|
Fatigue, Abdominal pain, Chorea, Aplasia/Hypoplasia of the abdominal wall musculature, Arthralgia... |
ORPHA:3099 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Fatigue |
ORPHA:231401 |
| Pulmonary Hypertension, Primary, 5 |
|
Fatigue, Right ventricular hypertrophy |
OMIM:265400 |
| Hemochromatosis, Type 3 |
|
Fatigue |
OMIM:604250 |
| Congenital Heart Block |
|
Fatigue, Patent ductus arteriosus, Exercise intolerance |
ORPHA:60041 |
| Primary Familial Polycythemia |
|
Fatigue, Arthralgia, Abdominal pain |
ORPHA:90042 |
| Kufor-Rakeb Syndrome |
|
Fatigue, Torticollis, Ataxia, Distal sensory impairment, Leg muscle stiffness |
OMIM:606693 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Chorea, Choreoathetosis, Neurodegeneration, Hypomimic face |
OMIM:606159 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Fatigue, Ataxia |
ORPHA:927 |
| Autoinflammation With Infantile Enterocolitis |
|
Fatigue, Arthralgia, Myalgia |
OMIM:616050 |
| Satoyoshi Syndrome |
|
Skeletal muscle hypertrophy, Fatigue |
OMIM:600705 |
| Autosomal Dominant Dopa-Responsive Dystonia |
|
Fatigue, Torticollis, Progressive flexion contractures, Ataxia, Impaired vibration sensation in t... |
ORPHA:98808 |
| Osteopetrosis, Autosomal Dominant 3 |
|
Fatigue, Asthenia |
OMIM:618107 |
| Angiostrongyliasis |
|
Fatigue, Abdominal pain, Arthralgia, Paresthesia, Myalgia, Hyperesthesia, Neck pain, Pain |
ORPHA:74 |
| Narcolepsy 7 |
|
Narcolepsy |
OMIM:614250 |
| Cold Agglutinin Disease |
|
Back pain, Fatigue, Arthralgia |
ORPHA:56425 |
| Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Fatigue, Chest pain |
ORPHA:422 |
| New-Onset Refractory Status Epilepticus |
|
Fatigue, Global brain atrophy |
ORPHA:363558 |
| Glycogen Storage Disease Ixa1 |
|
Fatigue |
OMIM:306000 |
| Hsd10 Disease, Infantile Type |
|
Diffuse cerebral atrophy, Cerebral atrophy, Choreoathetosis, Frontotemporal cerebral atrophy, Neu... |
ORPHA:391428 |
| Isolated Agammaglobulinemia |
|
Fatigue |
ORPHA:229717 |
| Refractory Anemia |
|
Fatigue |
ORPHA:98826 |
| Gm2 Gangliosidosis, Ab Variant |
|
Chorea, Neurodegeneration, Cerebral atrophy |
ORPHA:309246 |
| Insulinoma |
|
Abnormality of pain sensation, Fatigue, Paresthesia |
ORPHA:97279 |
| Rheumatoid Arthritis |
|
Fatigue, Digital flexor tenosynovitis, Arthralgia |
OMIM:180300 |
| Non-Functioning Paraganglioma |
|
Fatigue, Chest pain, Episodic abdominal pain |
ORPHA:94080 |
| Cryptogenic Organizing Pneumonia |
|
Fatigue, Night sweats, Arthralgia, Chest pain |
ORPHA:1302 |
| Leishmaniasis |
|
Fatigue, Night sweats, Arthralgia |
ORPHA:507 |
| Adiposis Dolorosa |
|
Fatigue, Arthralgia, Paresthesia |
ORPHA:36397 |
| Myotonia Fluctuans |
|
Fatigue, Spasticity of facial muscles, Myalgia |
ORPHA:99734 |
| Dubin-Johnson Syndrome |
|
Fatigue, Abdominal pain |
ORPHA:234 |
| Cholestasis-Lymphedema Syndrome |
|
Fatigue, Bone pain, Abdominal pain |
ORPHA:1414 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Cerebellar atrophy, Fatigue, Exercise intolerance, Ataxia, Facial palsy, Quadriceps muscle weakne... |
ORPHA:254892 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Patent ductus arteriosus, Scapular winging, Pain insensitivity, Fatigue |
OMIM:617061 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Fatigue, Abdominal pain |
ORPHA:65682 |
| Polymyositis |
|
Fatigue, Abdominal pain, Abnormal muscle fiber morphology, Arthralgia, Myalgia |
ORPHA:732 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Fatigue, Flexion contracture |
ORPHA:98791 |
| Muckle-Wells Syndrome |
|
Myalgia, Arthralgia, Chronic fatigue |
OMIM:191900 |
| Ataxia-Telangiectasia-Like Disorder 2 |
|
Cerebellar atrophy, Ataxia, Congenital diaphragmatic hernia, Neurodegeneration, Joint contracture |
OMIM:615919 |
| Krabbe Disease |
|
Diffuse cerebral atrophy, Neurodegeneration |
OMIM:245200 |
| Pituicytoma |
|
Fatigue |
ORPHA:251623 |
| Fixed Drug Eruption |
|
Fatigue, Chills |
ORPHA:293812 |
| Whipple Disease |
|
Fatigue, Myositis, Ataxia, Abdominal pain, Arthralgia, Chest pain, Myalgia |
ORPHA:3452 |
| Proximal Spinal Muscular Atrophy |
|
Fatigue, Skeletal muscle atrophy, Multiple joint contractures, Quadriceps muscle weakness, Flexio... |
ORPHA:70 |
| Legionnaires Disease |
|
Fatigue, Ataxia, Abdominal pain, Chest pain, Arthralgia, Myalgia |
ORPHA:549 |
| Cronkhite-Canada Syndrome |
|
Fatigue, Abdominal pain |
ORPHA:2930 |
| Aggressive Systemic Mastocytosis |
|
Fatigue, Abdominal pain, Bone pain, Arthralgia, Abdominal cramps, Constitutional symptom |
ORPHA:98850 |
| Glioblastoma |
|
Fatigue |
ORPHA:360 |
| Corticosteroid-Binding Globulin Deficiency |
|
Fatigue, Asthenia |
OMIM:611489 |
| Relapsing Fever |
|
Fatigue, Abdominal pain, Arthralgia, Myalgia, Chills |
ORPHA:91547 |
| Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Fatigue |
OMIM:274300 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Neurodegeneration |
OMIM:620210 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... |
OMIM:608643 |
| Progressive Supranuclear Palsy |
|
Neuronal loss in central nervous system, Cerebral cortical atrophy, Abnormal synaptic transmission |
ORPHA:683 |
| Evans Syndrome |
|
Fatigue |
ORPHA:1959 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Cerebellar atrophy, Chorea, Dysmetria, Gait ataxia, Cerebral atrophy, Dysdiadochokinesis, Neurode... |
OMIM:610217 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Fatigue, Arthralgia |
ORPHA:90036 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Neurodegeneration, Cerebral atrophy |
OMIM:300894 |
| Giant Cell Arteritis |
|
Fatigue, Ataxia, Sudden cardiac death, Abdominal pain, Arthralgia, Paresthesia, Myalgia, Gangrene |
ORPHA:397 |
| Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Fatigue, Exercise-induced myalgia, Exercise intolerance, Myalgia |
OMIM:618250 |
| Erythrocytosis, Familial, 1 |
|
Fatigue |
OMIM:133100 |
| Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Fatigue |
OMIM:241150 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Fatigue, Hip contracture, Hypoplasia of the musculature, Ankle flexion contracture, Fatigable wea... |
ORPHA:2020 |
| Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
| Postorgasmic Illness Syndrome |
|
Fatigue |
ORPHA:279947 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Acquired Methemoglobinemia |
|
Fatigue, Abdominal pain |
ORPHA:464453 |
| Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Fatigue, Myositis, Abdominal pain, Central nervous system degeneration, Arthralgia, Myalgia |
ORPHA:183 |
| Chronic Beryllium Disease |
|
Fatigue |
ORPHA:133 |
| Thyroid Hypoplasia |
|
Fatigue, Macroglossia |
ORPHA:95720 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Fatigue |
OMIM:619463 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Myopathy, Fatigue, Exercise intolerance |
OMIM:617713 |
| Adult-Onset Still Disease |
|
Fatigue, Arthralgia, Myalgia, Abdominal pain |
ORPHA:829 |
| Loeffler Endocarditis |
|
Left ventricular hypertrophy, Fatigue, Chest pain |
ORPHA:75566 |
| Systemic Capillary Leak Syndrome |
|
Fatigue, Constitutional symptom, Myalgia, Abdominal pain |
ORPHA:188 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Fatigue |
ORPHA:90037 |
| Immunodeficiency 70 |
|
Chronic fatigue |
OMIM:618969 |
| Autoerythrocyte Sensitization Syndrome |
|
Fatigue, Intramuscular hematoma, Arthralgia, Asthenia, Myalgia, Epigastric pain, Pain |
ORPHA:324636 |
| Kaposi Sarcoma |
|
Fatigue |
ORPHA:33276 |
| Tick-Borne Encephalitis |
|
Back pain, Skeletal muscle atrophy, Somatic sensory dysfunction, Fatigue, Facial palsy, Limb pain... |
ORPHA:297 |
| Avian Influenza |
|
Fatigue, Abdominal pain, Rhabdomyolysis, Chest pain, Myalgia |
ORPHA:454836 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Fatigue, Bone pain |
ORPHA:89937 |
| Cystinosis |
|
Fatigue, Myopathy |
ORPHA:213 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Fatigue, Skeletal muscle atrophy, Exercise intolerance, Limb-girdle muscle weakness, Rhabdomyolys... |
ORPHA:79240 |
| Aregenerative Anemia |
|
Fatigue, Fatigable weakness of skeletal muscles |
ORPHA:101096 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Ataxia, Chorea, Cerebral atrophy, Gait ataxia, Neurodegeneration, Left ventricular hypertrophy |
OMIM:618321 |
| Cinca Syndrome |
|
Fatigue, Arthralgia, Myalgia |
ORPHA:1451 |
| Alveolar Echinococcosis |
|
Fatigue, Low back pain, Ataxia, Abdominal pain, Abnormal skeletal muscle morphology, Chest pain, ... |
ORPHA:284 |
| Autosomal Agammaglobulinemia |
|
Fatigue |
ORPHA:33110 |
| Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Fatigue, Chills |
ORPHA:86884 |
| Primary Myelofibrosis |
|
Fatigue, Flank pain, Constitutional symptom |
ORPHA:824 |
| Acute Interstitial Pneumonia |
|
Fatigue, Chest pain, Arthralgia, Myalgia |
ORPHA:79126 |
| Post-Traumatic Pituitary Deficiency |
|
Fatigue |
ORPHA:95619 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| Lead Poisoning |
|
Fatigue, Somatic sensory dysfunction, Abdominal pain, Abdominal cramps, Impairment of activities ... |
ORPHA:330015 |
| Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
| Gm2-Gangliosidosis, Ab Variant |
|
Chorea, Neurodegeneration, Cerebral atrophy |
OMIM:272750 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Fatigue |
ORPHA:3226 |
| Glucocorticoid Resistance, Generalized |
|
Fatigue |
OMIM:615962 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Fatigue, Exercise intolerance, Facial hypotonia, Glycogen accumulation in muscle fiber lysosomes,... |
ORPHA:365 |
| Ebstein Malformation Of The Tricuspid Valve |
|
Fatigue, Patent ductus arteriosus, Chest pain, Sudden cardiac death |
ORPHA:1880 |
| Japanese Encephalitis |
|
Fatigue, Skeletal muscle atrophy, Rigors, Facial palsy, Abdominal pain, Elbow flexion contracture... |
ORPHA:79139 |
| Acute Transverse Myelitis |
|
Impaired vibratory sensation, Back pain, Somatic sensory dysfunction, Fatigue, Urinary incontinen... |
ORPHA:139417 |
| Combined Oxidative Phosphorylation Defect Type 29 |
|
Diffuse cerebellar atrophy, Axonal degeneration, Neurodegeneration, Global brain atrophy |
ORPHA:478029 |
| X-Linked Agammaglobulinemia |
|
Fatigue |
ORPHA:47 |
| Gitelman Syndrome |
|
Fatigue, Ataxia, Abdominal pain, Rhabdomyolysis, Arthralgia, Paresthesia |
OMIM:263800 |
| Botulism |
|
Fatigue, Abdominal pain |
ORPHA:1267 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Fatigue, Arthralgia |
ORPHA:90033 |
| Mixed Connective Tissue Disease |
|
Fatigue, Myositis, Arthralgia, Myalgia, Chest pain |
ORPHA:809 |
| Herpes Simplex Virus Encephalitis |
|
Fatigue, Chills |
ORPHA:1930 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ataxia, Acute rhabdomyolysis, Rhabdomyolysis, Cerebral atrophy, Gait ataxia, Neurodegeneration |
OMIM:616878 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Fatigue, Decreased muscle mass, Arthralgia, Abdominal pain |
ORPHA:465508 |
| Barth Syndrome |
|
Fatigue, Skeletal myopathy, Exercise intolerance |
OMIM:302060 |
| Iatrogenic Botulism |
|
Fatigue |
ORPHA:254509 |
| Multiple System Atrophy 1, Susceptibility To |
|
Neurodegeneration, Skeletal muscle atrophy, Ataxia, Urinary incontinence |
OMIM:146500 |
| Parkinson Disease 20, Early-Onset |
|
Fatigue, Cerebral cortical atrophy, Leg muscle stiffness |
OMIM:615530 |
| Congenital Isolated Acth Deficiency |
|
Fatigue |
ORPHA:199296 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Fatigue, Exercise intolerance |
ORPHA:99105 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Fatigue, Achilles tendon calcification |
OMIM:617994 |
| Acute Promyelocytic Leukemia |
|
Fatigue, Gangrene, Bone pain, Abdominal pain |
ORPHA:520 |
| Cyclic Neutropenia |
|
Fatigue, Bone pain, Abdominal pain |
ORPHA:2686 |
| Inhalational Botulism |
|
Fatigue |
ORPHA:254504 |
| Vexas Syndrome |
|
Fatigue, Night sweats, Arthralgia |
OMIM:301054 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Cerebellar atrophy, Scapular winging, Ataxia, Distal amyotrophy, Neurodegeneration |
OMIM:614298 |
| Idiopathic Pulmonary Hemosiderosis |
|
Fatigue |
ORPHA:99931 |
| Peripartum Cardiomyopathy |
|
Left ventricular hypertrophy, Fatigue, Chest pain, Abdominal pain |
ORPHA:563 |
| Reynolds Syndrome |
|
Fatigue, Myalgia |
ORPHA:779 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Fatigue, Skeletal muscle atrophy, Exercise intolerance, Increased sarcoplasmic glycogen, Myalgia |
ORPHA:264580 |
| Erythrocytosis, Familial, 2 |
|
Fatigue |
OMIM:263400 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Fatigue, Bone pain |
ORPHA:324964 |
| Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Back pain, Bilateral camptodactyly, Fatigue |
OMIM:619234 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Fatigue |
ORPHA:263455 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Fatigue, Myalgia |
ORPHA:542323 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Fatigue |
OMIM:615954 |
| Klatskin Tumor |
|
Fatigue, Abdominal pain |
ORPHA:99978 |
| Malignant Atrophic Papulosis |
|
Fatigue, Pain insensitivity, Chest pain, Abdominal pain |
ORPHA:679 |
| Inhalational Anthrax |
|
Fatigue |
ORPHA:247257 |
| Bone Marrow Failure Syndrome 6 |
|
Myalgia, Chronic fatigue |
OMIM:618849 |
| Solitary Fibrous Tumor |
|
Fatigue, Low back pain, Night sweats |
ORPHA:2126 |
| Lynch Syndrome |
|
Fatigue, Flexion contracture, Paresthesia, Abdominal pain |
ORPHA:144 |
| Poems Syndrome |
|
Fatigue, Pain, Paresthesia, Hyperesthesia |
ORPHA:2905 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Left ventricular hypertrophy, Fatigue, Tendon rupture |
ORPHA:230851 |
| Refractory Anemia With Excess Blasts |
|
Fatigue, Bone pain |
ORPHA:86839 |
| Stiff-Person Syndrome |
|
Exaggerated startle response, Opisthotonus |
OMIM:184850 |
| Acute Panmyelosis With Myelofibrosis |
|
Fatigue, Low back pain |
ORPHA:86843 |
| Immunodeficiency 97 With Autoinflammation |
|
Fatigue, Abdominal pain |
OMIM:619802 |
| Simple Cryoglobulinemia |
|
Fatigue, Abdominal pain, Arthralgia, Paresthesia, Spontaneous pain sensation |
ORPHA:91139 |
| Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
| Familial Colorectal Cancer Type X |
|
Fatigue, Flexion contracture, Paresthesia, Abdominal pain |
ORPHA:440437 |
| Congenital Disorder Of Glycosylation, Type It |
|
Fatigue, Rhabdomyolysis, Sudden cardiac death, Exercise intolerance |
OMIM:614921 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
| Chronic Myeloid Leukemia |
|
Fatigue |
ORPHA:521 |
| Acute Monoblastic/Monocytic Leukemia |
|
Fatigue |
ORPHA:514 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Tremor, Exaggerated startle response, Truncal titubation |
OMIM:618056 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Fatigue, Chest pain, Episodic abdominal pain |
ORPHA:276621 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response |
ORPHA:320406 |
| Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Narcolepsy, Resting tremor, Head tremor |
ORPHA:314404 |
| Cystic Echinococcosis |
|
Fatigue, Epigastric pain, Abnormality of the diaphragm |
ORPHA:400 |
| Juvenile Dermatomyositis |
|
Calcinosis, Fatigue, Myositis, Abdominal pain, Arthralgia, Myalgia |
ORPHA:93672 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response |
OMIM:620114 |
| Congenital Gerbode Defect |
|
Fatigue, Chest pain, Right ventricular hypertrophy |
ORPHA:99095 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Fatigue, Low back pain, Abdominal pain, Flank pain, Renal tubular epithelial necrosis, Pain |
ORPHA:49041 |
| Hennekam-Beemer Syndrome |
|
Fatigue, Camptodactyly of finger, Abdominal pain |
ORPHA:2135 |
| Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Fatigue, Lower limb pain |
OMIM:261990 |
| Macs Syndrome |
|
Fatigue |
OMIM:613075 |
| Generalized Pustular Psoriasis |
|
Fatigue, Pain, Arthralgia |
ORPHA:247353 |
| Listeriosis |
|
Back pain, Fatigue, Somatic sensory dysfunction, Ataxia, Abdominal pain, Rhabdomyolysis, Arthralg... |
ORPHA:533 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Fatigue |
ORPHA:98870 |
| Hereditary Xanthinuria |
|
Myopathy, Flank pain, Chronic fatigue |
ORPHA:3467 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Fatigue, Abdominal pain, Bone pain, Arthralgia, Myalgia |
ORPHA:98849 |
| Waldenström Macroglobulinemia |
|
Fatigue, Ataxia |
ORPHA:33226 |
| Septo-Optic Dysplasia Spectrum |
|
Fatigue |
ORPHA:3157 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Neurodegeneration, Ataxia |
OMIM:618476 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response |
OMIM:620327 |
| Acute Radiation Syndrome |
|
Fatigue |
ORPHA:454831 |
| Hellp Syndrome |
|
Back pain, Shoulder pain, Fatigue, Abdominal pain, Epigastric pain |
ORPHA:244242 |
| Functioning Gonadotropic Adenoma |
|
Fatigue |
ORPHA:91348 |
| Shigellosis |
|
Fatigue, Abdominal pain, Rhabdomyolysis, Asthenia, Abdominal cramps |
ORPHA:810 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Fatigue, Ataxia |
ORPHA:20 |
| Polycythemia Vera |
|
Fatigue, Arthralgia, Abdominal pain |
ORPHA:729 |
| Neuroleptic Malignant Syndrome |
|
Fatigue, Rigors, Urinary incontinence, Chorea, Rhabdomyolysis |
ORPHA:94093 |
| Gamma-Heavy Chain Disease |
|
Fatigue |
ORPHA:100026 |
| Cerebral Visual Impairment |
|
Central nervous system degeneration, Neurodegeneration |
ORPHA:447788 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response |
OMIM:616881 |
| Isolated Right Ventricular Hypoplasia |
|
Fatigue |
ORPHA:439 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Decreased muscle mass, Ataxia, Urinary incontinence, Choreoathetosis, Myopathy, Neurodegeneration... |
OMIM:234200 |
| Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Fatigue, Chest pain |
ORPHA:747 |
| Granulomatosis With Polyangiitis |
|
Fatigue, Gangrene, Asthenia, Myalgia |
OMIM:608710 |
| Erdheim-Chester Disease |
|
Fatigue, Bone pain, Ataxia, Abdominal pain |
ORPHA:35687 |
| Steinert Myotonic Dystrophy |
|
Fatigue, Skeletal muscle atrophy, Fatigable weakness of bulbar muscles, Abnormality of the tongue... |
ORPHA:273 |
| Overhydrated Hereditary Stomatocytosis |
|
Fatigue |
OMIM:185000 |
| Al Amyloidosis |
|
Fatigue, Macroglossia |
ORPHA:85443 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Fatigue, Chest pain, Episodic abdominal pain |
ORPHA:29072 |
| Autoimmune Hepatitis |
|
Arthralgia, Chronic fatigue, Abdominal pain |
ORPHA:2137 |
| Late-Onset Isolated Acth Deficiency |
|
Fatigue, Arthralgia, Abdominal pain |
ORPHA:199299 |
| Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Fatigue |
ORPHA:99832 |
| Mucopolysaccharidosis, Type Ii |
|
Macroglossia, Flexion contracture, Neurodegeneration |
OMIM:309900 |
| Castleman Disease |
|
Fatigue, Flank pain, Constitutional symptom, Abdominal pain |
ORPHA:160 |
| Pituitary Apoplexy |
|
Fatigue, Trigeminal neuralgia |
ORPHA:95613 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Fatigue |
ORPHA:300298 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Fatigue, Chest pain |
ORPHA:230 |
| Xeroderma Pigmentosum |
|
Fatigue, Arthralgia, Ataxia, Cerebral cortical atrophy |
ORPHA:910 |
| Chediak-Higashi Syndrome |
|
Neurodegeneration, Ataxia, Foot dorsiflexor weakness |
OMIM:214500 |
| Behçet Disease |
|
Fatigue, Myositis, Ataxia, Abdominal pain, Arthralgia, Paresthesia, Myalgia, Gangrene |
ORPHA:117 |
| Non-Functioning Pituitary Adenoma |
|
Fatigue |
ORPHA:91349 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, Dystonia |
ORPHA:438216 |
| Renal Nutcracker Syndrome |
|
Fatigue, Flank pain, Abdominal pain |
ORPHA:71273 |
| Lymphoid Interstitial Pneumonia |
|
Fatigue |
ORPHA:79128 |
| Carney Triad |
|
Fatigue, Abdominal pain, Leiomyosarcoma |
ORPHA:139411 |
| Kufor-Rakeb Syndrome |
|
Fatigue, Urinary incontinence, Bowel incontinence, Leg muscle stiffness, Cerebral cortical atroph... |
ORPHA:306674 |
| Mucopolysaccharidosis, Type Vii |
|
Macroglossia, Flexion contracture, Neurodegeneration, Diastasis recti |
OMIM:253220 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Fatigue, Bone pain |
OMIM:600740 |
| Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Narcolepsy |
OMIM:604121 |
| Multiple Myeloma |
|
Fatigue, Bone pain, Paresthesia |
ORPHA:29073 |
| Hughes-Stovin Syndrome |
|
Fatigue, Chest pain |
ORPHA:228116 |
| Chikungunya |
|
Fatigue, Shoulder pain, Arthralgia, Paresthesia, Myalgia, Chills, Knee pain |
ORPHA:324625 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Fatigue, Macroglossia |
ORPHA:90674 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response |
OMIM:617864 |
| Gaucher Disease Type 3 |
|
Fatigue, Bone pain, Ataxia |
ORPHA:77261 |
| Hurler Syndrome |
|
Macroglossia, Flexion contracture, Neurodegeneration |
OMIM:607014 |
| Menkes Disease |
|
Fatigue, Chorea, Aplasia/Hypoplasia of the abdominal wall musculature |
ORPHA:565 |
| Q Fever |
|
Fatigue, Night sweats, Myalgia |
ORPHA:781 |
| Congenital Analbuminemia |
|
Fatigue |
ORPHA:86816 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Fatigue, Torticollis, Ataxia, Abdominal pain, Neurodegeneration |
OMIM:619475 |
| Pyruvate Dehydrogenase E2 Deficiency |
|
Neurodegeneration |
ORPHA:79244 |
| Prolactinoma |
|
Fatigue |
ORPHA:2965 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Night sweats, Chronic fatigue, Episodic abdominal pain |
ORPHA:100085 |
| Tay-Sachs Disease |
|
Tremor, Exaggerated startle response, Laryngeal dystonia, Dystonia |
ORPHA:845 |
| Pulmonary Alveolar Microlithiasis |
|
Fatigable weakness, Fatigue, Chest pain |
ORPHA:60025 |
| Arterial Tortuosity Syndrome |
|
Fatigue |
ORPHA:3342 |
| Stevens-Johnson Syndrome |
|
Fatigue, Sudden cardiac death, Abdominal pain |
ORPHA:36426 |
| Atrial Septal Defect, Ostium Primum Type |
|
Left ventricular hypertrophy, Fatigue, Exercise intolerance |
ORPHA:99106 |
| Toxic Epidermal Necrolysis |
|
Fatigue, Sudden cardiac death, Abdominal pain |
ORPHA:537 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Fatigue, Arthralgia, Myalgia |
ORPHA:183675 |
| Primary Sjögren Syndrome |
|
Fatigue, Myositis, Somatic sensory dysfunction, Chorea, Chronic pain, Arthralgia, Myalgia |
ORPHA:289390 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
| Immunodeficiency 58 |
|
Fatigue |
OMIM:618131 |
| Acute Adrenal Insufficiency |
|
Fatigue, Arthralgia, Abdominal pain |
ORPHA:95409 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Fatigue, Abdominal pain |
ORPHA:567546 |
| Sandhoff Disease |
|
Exaggerated startle response |
OMIM:268800 |
| Fabry Disease |
|
Fatigue, Abdominal pain, Arthralgia, Myalgia, Left ventricular hypertrophy |
ORPHA:324 |
| Immunodeficiency 31C |
|
Fatigue, Skeletal muscle atrophy |
OMIM:614162 |
| Gaucher Disease |
|
Fatigue, Ataxia, Abdominal pain, Bone pain, Arthralgia, Arthrogryposis multiplex congenita |
ORPHA:355 |
| Granulomatosis With Polyangiitis |
|
Fatigue, Abdominal pain, Chest pain, Arthralgia, Myalgia, Gangrene |
ORPHA:900 |
| Hermansky-Pudlak Syndrome |
|
Fatigue, Abdominal pain |
ORPHA:79430 |
| Familial Glucocorticoid Deficiency |
|
Chronic fatigue, Episodic abdominal pain |
ORPHA:361 |
| Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response |
OMIM:617281 |
| Primary Biliary Cholangitis |
|
Fatigue |
ORPHA:186 |
| Kikuchi-Fujimoto Disease |
|
Fatigue, Ataxia, Night sweats, Arthralgia, Myalgia, Chills |
ORPHA:50918 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Dystonia |
ORPHA:521426 |
| Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Dystonia |
ORPHA:79255 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Fatigue, Abdominal pain |
ORPHA:309031 |
| Malt Lymphoma |
|
Fatigue, Abdominal pain |
ORPHA:52417 |
| Hemorrhagic Fever-Renal Syndrome |
|
Back pain, Fatigue, Abdominal pain, Myalgia, Chills |
ORPHA:340 |
| Brucellosis |
|
Fatigue, Abdominal pain, Chorea, Arthralgia, Asthenia, Chills |
ORPHA:1304 |
| Dermatomyositis |
|
Fatigue, Inflammatory myopathy, Arthralgia, Myalgia, Gangrene |
ORPHA:221 |
| Gastrointestinal Stromal Tumor |
|
Fatigue |
ORPHA:44890 |
| Asparagine Synthetase Deficiency |
|
Tremor, Exaggerated startle response |
OMIM:615574 |
| Primary Sclerosing Cholangitis |
|
Fatigue, Generalized amyotrophy, Abdominal pain |
ORPHA:171 |
| Loeys-Dietz Syndrome 6 |
|
Arthralgia, Chronic fatigue |
OMIM:619656 |
| Dehydrated Hereditary Stomatocytosis |
|
Episodic fatigue, Abdominal pain |
ORPHA:3202 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Fatigue, Arthralgia |
ORPHA:562639 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Fatigue, Bone pain, Mandibular pain, Episodic abdominal pain |
ORPHA:99880 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Fatigue |
ORPHA:293978 |
| Sheehan Syndrome |
|
Chills, Arthralgia, Chronic fatigue |
ORPHA:91355 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Fatigue, Exercise intolerance |
ORPHA:99104 |
| Parathyroid Carcinoma |
|
Fatigue, Bone pain, Mandibular pain, Episodic abdominal pain |
ORPHA:143 |
| Coccidioidomycosis |
|
Fatigue, Chest pain, Myalgia |
ORPHA:228123 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response |
OMIM:253800 |
| Exercise-Induced Malignant Hyperthermia |
|
Fatigue, Rhabdomyolysis, Ataxia |
ORPHA:466650 |
| Zygomycosis |
|
Fatigue, Pain, Chest pain, Abdominal pain |
ORPHA:73263 |
| Wiskott-Aldrich Syndrome |
|
Fatigue, Chest pain, Sudden cardiac death |
ORPHA:906 |
| Insulin-Resistance Syndrome Type B |
|
Fatigue |
ORPHA:2298 |
| Niemann-Pick Disease Type C |
|
Axial dystonia, Dystonia, Tremor, Narcolepsy, Limb dystonia, Intention tremor |
ORPHA:646 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response |
OMIM:617527 |
| Familial Pancreatic Carcinoma |
|
Back pain, Chronic fatigue, Abdominal pain |
ORPHA:1333 |
| Lymphangioleiomyomatosis |
|
Fatigue, Chest pain, Abdominal pain |
ORPHA:538 |
| Gallbladder Neuroendocrine Tumor |
|
Chronic fatigue, Episodic abdominal pain |
ORPHA:100086 |
| Nocardiosis |
|
Fatigue, Ocular pain, Night sweats, Chest pain, Chills |
ORPHA:31204 |
| Lymphatic Filariasis |
|
Fatigue, Pain |
ORPHA:2035 |
| Acromegaly |
|
Fatigue, Macroglossia, Arthralgia, Paresthesia |
ORPHA:963 |
| Somatomammotropinoma |
|
Fatigue, Macroglossia, Arthralgia, Paresthesia |
ORPHA:314769 |
| Secondary Intestinal Lymphangiectasia |
|
Fatigue, Abdominal colic |
ORPHA:90363 |
| Addison Disease |
|
Fatigue, Arthralgia, Abdominal pain |
ORPHA:85138 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Fatigue, Macroglossia |
ORPHA:226307 |
| Laubry-Pezzi Syndrome |
|
Left ventricular hypertrophy, Patent ductus arteriosus, Chest pain, Fatigue |
ORPHA:99094 |
| African Trypanosomiasis |
|
Fatigue, Rigors, Somatic sensory dysfunction, Urinary incontinence, Impaired proprioception, Chor... |
ORPHA:3385 |
| Gaisböck Syndrome |
|
Fatigue, Epigastric pain |
ORPHA:90041 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Fatigue, Abdominal pain, Flank pain, Ocular pain, Renal tubular epithelial necrosis, Arthralgia, ... |
ORPHA:91500 |
| Kawasaki Disease |
|
Fatigue, Arthralgia, Abdominal pain |
ORPHA:2331 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Fatigue, Abdominal cramps, Abdominal pain |
ORPHA:544482 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Fatigue, Exercise intolerance |
ORPHA:99103 |
| Selective Igm Deficiency |
|
Chronic fatigue |
ORPHA:331235 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Fatigue, Aplasia/Hypoplasia of the abdominal wall musculature, Arthralgia, Paresthesia, Myalgia, ... |
ORPHA:285 |
| Tsh-Secreting Pituitary Adenoma |
|
Fatigue |
ORPHA:91347 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Fatigue, Myositis, Abnormality of the extraocular muscles |
ORPHA:79078 |
| Nijmegen Breakage Syndrome |
|
Neurodegeneration, Rhabdomyosarcoma |
OMIM:251260 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Fatigue |
ORPHA:786 |
| Familial Hypocalciuric Hypercalcemia |
|
Fatigue, Episodic abdominal pain |
ORPHA:405 |
| Marfan Syndrome |
|
Myalgia, Skeletal muscle atrophy, Arthralgia/arthritis, Chronic fatigue |
ORPHA:558 |
| Ileal Neuroendocrine Tumor |
|
Chronic fatigue, Episodic abdominal pain |
ORPHA:100078 |
| Adenocarcinoma Of The Anal Canal |
|
Chronic fatigue, Abdominal pain |
ORPHA:424016 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Fatigue, Vulvodynia, Myalgia, Renal tubular epithelial necrosis |
ORPHA:95455 |
| Plague |
|
Fatigue, Abdominal pain, Chest pain, Arthralgia, Chills |
ORPHA:707 |
| Tetrasomy 9P |
|
Fatigue, Myositis |
ORPHA:3310 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Fatigue |
ORPHA:70591 |
| Eisenmenger Syndrome |
|
Fatigue, Patent ductus arteriosus, Exercise intolerance, Chest pain |
ORPHA:97214 |
| Classical Ehlers-Danlos Syndrome |
|
Fatigue, Limb pain, Arthralgia |
ORPHA:287 |
| Witteveen-Kolk Syndrome |
|
Fatigue, Congenital diaphragmatic hernia, Contracture of the distal interphalangeal joint of the ... |
OMIM:613406 |
| Igg4-Related Kidney Disease |
|
Fatigue, Abdominal pain |
ORPHA:449395 |
| Somatostatinoma |
|
Chronic fatigue, Episodic abdominal pain |
ORPHA:97283 |
| Vipoma |
|
Chronic fatigue, Episodic abdominal pain |
ORPHA:97282 |
| Glucagonoma |
|
Chronic fatigue, Episodic abdominal pain |
ORPHA:97280 |
| Sarcoidosis |
|
Fatigue, Chest pain, Facial palsy |
ORPHA:797 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Narcolepsy |
ORPHA:293987 |
| Non-Acquired Panhypopituitarism |
|
Fatigue |
ORPHA:90695 |
| Goodpasture Syndrome |
|
Fatigue, Chills, Chest pain |
OMIM:233450 |
| Tropical Endomyocardial Fibrosis |
|
Fatigue, Myocardial calcification |
ORPHA:75565 |
| Aneurysm-Osteoarthritis Syndrome |
|
Left ventricular hypertrophy, Patent ductus arteriosus, Chronic fatigue, Camptodactyly of finger |
ORPHA:284984 |
| Primrose Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Ataxia, Flexion contracture, Knee flexion contracture, ... |
OMIM:259050 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Fatigue |
ORPHA:95494 |
| Loeys-Dietz Syndrome 3 |
|
Chronic fatigue, Patent ductus arteriosus, Sudden death, Camptodactyly, Left ventricular hypertrophy |
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 |
|
Chronic fatigue, Abdominal pain |
ORPHA:2929 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Fatigue, Patent ductus arteriosus |
ORPHA:99125 |
