| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Angulated muscle fibers, Shoulder girdle muscle weakness, Weakness of facial musculature, Fatigue... |
OMIM:619477 |
| Tubular Aggregate Myopathy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myalg... |
ORPHA:2593 |
| Macrophagic Myofasciitis |
|
Arthralgia, Myalgia, Fatigue |
ORPHA:592 |
| Inclusion Body Myositis |
|
Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Myalgia, Inflammatory myopa... |
ORPHA:611 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... |
OMIM:253601 |
| Pontiac Fever |
|
Myalgia, Fatigue |
ORPHA:99748 |
| Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Hyperkalemia |
OMIM:143860 |
| Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... |
OMIM:619178 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
| Genetic Hyperferritinemia Without Iron Overload |
|
Arthralgia, Fatigue |
ORPHA:254704 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream... |
OMIM:618655 |
| Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Neurodegeneration |
OMIM:613068 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620125 |
| Spinal Muscular Atrophy, Type Iv |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... |
OMIM:271150 |
| Diaminopentanuria |
|
Neurodegeneration, Ataxia |
OMIM:222350 |
| Autosomal Dominant Spastic Paraplegia Type 37 |
|
Degeneration of the lateral corticospinal tracts, Impaired vibration sensation in the lower limbs... |
ORPHA:171612 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
Neurodegeneration, Cerebellar atrophy, Cerebral atrophy, Ataxia |
OMIM:610951 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Increased endomysial connecti... |
OMIM:613157 |
| Tremor, Hereditary Essential, 2 |
|
Fatigue |
OMIM:602134 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w... |
ORPHA:206549 |
| Glucose-Galactose Malabsorption |
|
Hypercalcemia, Hypernatremia |
ORPHA:35710 |
| Chronic Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia |
ORPHA:529799 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:610600 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
| Neuroleptic Malignant Syndrome |
|
Oculogyric crisis, Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Tremor, Hyperuricemia, Elevat... |
ORPHA:94093 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hypoornithinemia, Hyperammonemia, Hyperprolinemia, Hyperglutaminemia, Low plasma citrulline, Hype... |
OMIM:615751 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:203400 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Limb-... |
OMIM:615424 |
| Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:619733 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypernatremia |
OMIM:304800 |
| Creatine Phosphokinase, Elevated Serum |
|
Muscular dystrophy, Myalgia, Inflammatory myopathy, Myopathy, Fatigue, Abnormal muscle fiber morp... |
OMIM:123320 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... |
OMIM:254110 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Abdominal pain, Fatigue, Ragged-red muscle fibers |
OMIM:616794 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia |
OMIM:616949 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni... |
OMIM:300539 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Cerebellar atrophy, Gait ataxia, Dysmetria, Fatigue, Ataxia, Dysdiadochokinesis |
OMIM:614831 |
| Pyruvate Carboxylase Deficiency |
|
Neonatal hyperbilirubinemia, Hyperammonemia, Tremor, Hyperglutamatemia, Hyperprolinemia, Hypoglut... |
ORPHA:3008 |
| Amyotrophic Lateral Sclerosis |
|
Progressive distal muscular atrophy, Skeletal muscle atrophy, Upper limb muscle weakness, Lower l... |
ORPHA:803 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level |
OMIM:300971 |
| Mantle Cell Lymphoma |
|
Fatigue |
ORPHA:52416 |
| Adiposis Dolorosa |
|
Chronic pain, Arthralgia, Fatigue |
OMIM:103200 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Rimmed vacuoles, Impaired vibratory sensation, Increased variability in muscle fiber diameter, So... |
OMIM:616924 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:177735 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Dystonia, Hyperglycinemia, Hypernatremia, Exaggerated startle response |
OMIM:620423 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypoalbuminemia, Hypernatremia |
OMIM:615508 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:556037 |
| Cholangiocarcinoma |
|
Abdominal pain, Fatigue |
ORPHA:70567 |
| Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency |
|
Fatigue, Arthrogryposis multiplex congenita |
OMIM:616326 |
| Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Neurodegeneration, Gait ataxia, Congenital diaphragmatic hernia, Cerebellar atrophy |
ORPHA:438134 |
| Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Fatigue |
OMIM:618573 |
| Epiphyseal Dysplasia, Multiple, 2 |
|
Knee pain, Fatigue, Foot pain |
OMIM:600204 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Generalized weakness of limb muscles, Abnormal peripheral nervous system synaptic transmission, T... |
ORPHA:353327 |
| Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Exercise intolerance, Chest pain, Lower limb pain, Myalgia, Ragged-red muscle fibers, Fatigue, At... |
ORPHA:1349 |
| Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia, Dystonia |
ORPHA:163921 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:556030 |
| Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia |
OMIM:240200 |
| Nephrogenic Diabetes Insipidus |
|
Hypernatremia |
ORPHA:223 |
| Webb-Dattani Syndrome |
|
Hypernatremia |
OMIM:615926 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Sensory ataxia, Exercise intolerance, Cerebral atrophy, Myalgia, Limb muscle weakness, Ragged-red... |
OMIM:609286 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Fatigue |
ORPHA:79283 |
| Amyotrophic Lateral Sclerosis 20 |
|
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy, Amyotrophic lateral sclerosis |
OMIM:615426 |
| Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Cerebellar atrophy, Neurodegeneration, Dysmetria, Atrophy/Degeneration affecting the brainstem, A... |
OMIM:612319 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Fatigue, Hypomimic face, Dysdiadochokinesis, Ataxia |
OMIM:618049 |
| Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Myofibrillar myopathy, Skeletal ... |
ORPHA:34516 |
| Alexander Disease |
|
Fatigue, Dysmetria, Ataxia |
OMIM:203450 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Fatigable weakness, Myopathy, Fatigable weakness of neck muscles, Distal... |
ORPHA:42 |
| Congenital Glucokinase-Related Hyperinsulinism |
|
Fatigue |
ORPHA:79299 |
| Familial Atrial Fibrillation |
|
Chest pain, Exercise intolerance, Fatigue |
ORPHA:334 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5 |
|
Exercise intolerance, Gait ataxia, Myopathy, Fatigue, Ataxia |
OMIM:613077 |
| Familial Isolated Dilated Cardiomyopathy |
|
Fatigue, Myopathy |
ORPHA:154 |
| Undifferentiated Pleomorphic Sarcoma |
|
Fatigue |
ORPHA:2023 |
| Eosinophilic Fasciitis |
|
Paresthesia, Myalgia, Myositis, Muscular edema, Arthralgia, Fatigue |
ORPHA:3165 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia |
OMIM:264350 |
| Central Diabetes Insipidus |
|
Hyponatremia |
ORPHA:178029 |
| Mitochondrial Myopathy With Lactic Acidosis |
|
Fatigue, Dysmetria |
OMIM:251950 |
| Oculopharyngeal Muscular Dystrophy |
|
Rimmed vacuoles, Ragged-red muscle fibers, Myopathy, Abnormal muscle fiber morphology |
ORPHA:270 |
| Hyperkalemic Periodic Paralysis |
|
Hypokalemia, Hyperkalemia, Hyponatremia, Elevated circulating creatine kinase concentration |
ORPHA:682 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Exercise intolerance, Skeletal muscle atrophy, Myalgia, Ragged-red muscle fibers, Left ventricula... |
OMIM:615418 |
| Hyperinsulinism Due To Insr Deficiency |
|
Fatigue |
ORPHA:263458 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level |
OMIM:214700 |
| Methylmalonic Acidemia With Homocystinuria |
|
Fatigue |
ORPHA:26 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:171876 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebral cortical atrophy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Chorea, Ataxia |
OMIM:617672 |
| Atypical Juvenile Parkinsonism |
|
Leg muscle stiffness, Gait ataxia, Fatigue, Hypomimic face, Brain atrophy |
ORPHA:391411 |
| Autosomal Dominant Optic Atrophy, Classic Form |
|
Skeletal muscle atrophy, Cerebellar atrophy, Myalgia, Myopathy, Weakness of facial musculature, F... |
ORPHA:98673 |
| Thymic Carcinoma |
|
Chest pain, Fatigue, Fatigable weakness |
ORPHA:99868 |
| Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Upper limb muscle weakness, Lower limb muscle weakness, Fatigue, Proximal amyotrophy, Calf muscle... |
ORPHA:209335 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Diffuse cerebral atrophy, Fatigue |
ORPHA:314632 |
| Familial Cold Urticaria |
|
Myalgia, Arthralgia, Fatigue, Abdominal pain, Dysesthesia |
ORPHA:47045 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cerebellar atrophy, Limb ataxia, Gait ataxia, Limb muscle weakness, Myalgia, Fatigue, Ataxia, Tru... |
OMIM:619259 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:614736 |
| Postpoliomyelitis Syndrome |
|
Skeletal muscle atrophy, Myalgia, Pain, Arthralgia, Fatigue |
ORPHA:2942 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... |
OMIM:267700 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Neurodegeneration, Cerebellar atrophy, Ataxia |
OMIM:615889 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia |
ORPHA:91354 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Increased cerebral lipofuscin, Chronic fatigue, Bone pain |
OMIM:610539 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Exercise intolerance, Skeletal muscle atrophy, Myalgia, Myopathy, Weakness of facial musculature,... |
ORPHA:254875 |
| Athyreosis |
|
Macroglossia, Fatigue |
ORPHA:95713 |
| Liposarcoma |
|
Abdominal pain, Paresthesia, Fatigue |
ORPHA:69078 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Cerebral cortical atrophy, Skeletal muscle atrophy, Cerebellar atrophy, Cerebral atrophy, Neurode... |
OMIM:615157 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Exercise intolerance, Skeletal muscle atrophy, Postexertional symptom exacerbation, Rhabdomyolysi... |
ORPHA:368 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Proximal muscle weakness in lower limbs, Joint contracture of the hand, Spinal muscular atrophy, ... |
ORPHA:466768 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Fatigue, Limb-girdle muscle weakness, Myopathy, Ataxia |
ORPHA:1215 |
| Mucolipidosis Type Iii |
|
Fatigue |
ORPHA:577 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
| Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:427 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia |
OMIM:613845 |
| Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Fatigue, Fatigable weakness, Myopathy |
ORPHA:257 |
| Congenital Isolated Acth Deficiency |
|
Hyponatremia |
ORPHA:199296 |
| Spontaneous Periodic Hypothermia |
|
Fatigue, Ataxia |
ORPHA:29822 |
| Spastic Paraplegia 79B, Autosomal Recessive |
|
Impaired vibratory sensation, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Dysmetria,... |
OMIM:615491 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia |
ORPHA:83601 |
| Sengers Syndrome |
|
Exercise intolerance, Fatigue, Sudden cardiac death, Myopathy |
OMIM:212350 |
| Hereditary Coproporphyria |
|
Hyponatremia, Abnormal circulating porphyrin concentration |
ORPHA:79273 |
| Herpes Simplex Virus Encephalitis |
|
Elevated circulating C-reactive protein concentration, Hyponatremia |
ORPHA:1930 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Fatigue |
ORPHA:86893 |
| Hepatitis Delta |
|
Malaise, Abdominal pain, Fatigue |
ORPHA:402823 |
| Becker Muscular Dystrophy |
|
Exercise intolerance, Myalgia, Skeletal muscle atrophy, Fatigue |
ORPHA:98895 |
| Classic Hodgkin Lymphoma |
|
Chest pain, Fatigue, Bone pain, Ataxia |
ORPHA:391 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin ... |
ORPHA:100924 |
| Poliomyelitis |
|
Hypoplasia of the musculature, Exercise intolerance, Skeletal muscle atrophy, Upper limb muscle w... |
ORPHA:2912 |
| Neurodegeneration With Brain Iron Accumulation 6 |
|
Neurodegeneration, Distal amyotrophy |
OMIM:615643 |
| Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul... |
OMIM:241150 |
| Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Arthralgia, Myalgia, Skeletal muscle atrophy, Fatigue |
ORPHA:230839 |
| Colchicine Poisoning |
|
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con... |
ORPHA:31824 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia |
OMIM:620157 |
| Typhoid |
|
Myalgia, Arthralgia, Fatigue, Ataxia, Abdominal pain |
ORPHA:99745 |
| Aica-Ribosiduria Due To Atic Deficiency |
|
Hyponatremia |
OMIM:608688 |
| Congenital Myopathy 22A, Classic |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:620351 |
| Snakebite Envenomation |
|
Hyponatremia |
ORPHA:449285 |
| Laryngeal Neuroendocrine Tumor |
|
Chronic fatigue |
ORPHA:100083 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Cerebellar atrophy, Ragged-red muscle fibers, Diffuse cerebral atrophy, Decreased level of coenzy... |
OMIM:607426 |
| Pfapa Syndrome |
|
Abdominal pain, Arthralgia, Fatigue |
ORPHA:42642 |
| Adrenoleukodystrophy |
|
Lower limb muscle weakness, Neurodegeneration, Limb ataxia, Urinary incontinence, Truncal ataxia,... |
OMIM:300100 |
| Unclassified Myelodysplastic Syndrome |
|
Night sweats, Fatigue |
ORPHA:98827 |
| Schnitzler Syndrome |
|
Myalgia, Arthralgia, Fatigue, Bone pain |
ORPHA:37748 |
| Generalized Pustular Psoriasis |
|
Elevated circulating C-reactive protein concentration, Hyponatremia, Hypocalcemia, Hypoalbuminemia |
ORPHA:247353 |
| Arachnoiditis |
|
Arthralgia, Paresthesia, Fatigue |
ORPHA:137817 |
| Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Chronic fatigue |
OMIM:234810 |
| X-Linked Sideroblastic Anemia |
|
Fatigue |
ORPHA:75563 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypoalbuminemia, Increased total bilirubin, Increased circulating ferritin concentration, Hyponat... |
OMIM:603553 |
| Houge-Janssens Syndrome 1 |
|
Facial hypotonia, Fatigue, Gait ataxia, Congenital muscular torticollis |
OMIM:616355 |
| Essential Thrombocythemia |
|
Chest pain, Paresthesia, Fatigue, Erythromelalgia |
ORPHA:3318 |
| Follicular Lymphoma |
|
Night sweats, Fatigue |
ORPHA:545 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Elevated circulating C-reactive protein concentration, Hypernatremia, Hypoalbuminemia |
OMIM:619381 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Skeletal muscle atrophy, Cerebellar atrophy, Neurodegeneration, Ragged-red muscle fibers, Myopath... |
OMIM:616239 |
| Hartsfield Syndrome |
|
Hypernatremia |
OMIM:615465 |
| Familial Cold Autoinflammatory Syndrome 1 |
|
Arthralgia, Myalgia, Fatigue, Chills |
OMIM:120100 |
| Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Fatigue |
ORPHA:589905 |
| Hypotonia-Cystinuria Syndrome |
|
Fatigue |
ORPHA:163690 |
| Immunodeficiency, Common Variable, 11 |
|
Fatigue |
OMIM:615767 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Joint contracture of the hand, Cerebellar atrophy, Elbow flexion contracture, Neurodegeneration, ... |
OMIM:214150 |
| Wolcott-Rallison Syndrome |
|
Hypoalbuminemia, Hyperbilirubinemia, Hyponatremia, Hyperammonemia |
ORPHA:1667 |
| Alg8-Cdg |
|
Hyponatremia |
ORPHA:79325 |
| Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Fatigue, Hypomimic face, Dysdiadochokinesis, Ataxia |
ORPHA:352649 |
| Intellectual Disability And Myopathy Syndrome |
|
Fatigue, Achilles tendon contracture |
OMIM:619719 |
| Atrial Standstill |
|
Muscular dystrophy, Skeletal muscle atrophy, Postexertional symptom exacerbation, Left ventricula... |
ORPHA:1344 |
| Babesiosis |
|
Myalgia, Arthralgia, Fatigue |
ORPHA:108 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia |
OMIM:618183 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hypokalemia, Hyperchloriduria, Hyponatremia, Hypochloremia |
OMIM:613090 |
| Adrenomyeloneuropathy |
|
Leg muscle stiffness, Impaired continence, Distal sensory impairment, Axonal degeneration, Distal... |
ORPHA:139399 |
| Hemochromatosis, Type 4 |
|
Arthralgia, Fatigue |
OMIM:606069 |
| Mal De Débarquement |
|
Fatigue |
ORPHA:210272 |
| Hepatitis, Fulminant Viral, Susceptibility To |
|
Fatigue |
OMIM:618549 |
| Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Abdominal pain, Arthralgia, Fatigue |
OMIM:615399 |
| Nipah Virus Disease |
|
Myalgia, Fatigue |
ORPHA:99825 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyperammonemia, Tremor, Elevated circulating creatine kinase concentration, Hyponatremia, Dystonia |
OMIM:610505 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Fatigue |
ORPHA:276608 |
| Cholera |
|
Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia |
ORPHA:173 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level |
OMIM:601198 |
| Congenital Sucrase-Isomaltase Deficiency |
|
Abdominal pain, Fatigue, Abdominal colic, Bowel incontinence |
ORPHA:35122 |
| Liddle Syndrome |
|
Fatigue |
ORPHA:526 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Sudden cardiac death, Skeletal muscle atrophy, Fatigue |
ORPHA:156 |
| Hyperprolinemia Type 2 |
|
Exercise intolerance, Myalgia, Chronic fatigue, Distal sensory impairment, Abdominal pain, Dysest... |
ORPHA:79101 |
| Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Exercise intolerance, Fatigable weakness of skeletal muscles, Knee flexion contracture, Weakness ... |
OMIM:617239 |
| Papa Syndrome |
|
Myositis, Arthralgia, Fatigue |
ORPHA:69126 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:90791 |
| Adrenal Hypoplasia, Congenital |
|
Hyponatremia |
OMIM:300200 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Global brain atrophy, Fatigue, Torticollis, Ataxia, Brain atrophy |
OMIM:617186 |
| Primary Familial Polycythemia |
|
Abdominal pain, Arthralgia, Fatigue |
ORPHA:90042 |
| Rheumatic Fever |
|
Chest pain, Chorea, Arthralgia, Aplasia/Hypoplasia of the abdominal wall musculature, Fatigue, Ab... |
ORPHA:3099 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Neuronal loss in central nervous system,... |
OMIM:256600 |
| Mast Cell Sarcoma |
|
Fatigue |
ORPHA:66661 |
| Spinal Arteriovenous Metameric Syndrome |
|
Gangrene, Arthralgia, Fatigue, Bone pain |
ORPHA:53721 |
| Takayasu Arteritis |
|
Chest pain, Myalgia, Gangrene, Arthralgia, Fatigue |
ORPHA:3287 |
| Lyme Disease |
|
Arthralgia, Myalgia, Paresthesia, Fatigue |
ORPHA:91546 |
| Analbuminemia |
|
Fatigue |
OMIM:616000 |
| Pulmonary Hypertension, Primary, 5 |
|
Fatigue, Right ventricular hypertrophy |
OMIM:265400 |
| Renal Hypoplasia, Bilateral |
|
Hyponatremia, Hyperkalemia |
ORPHA:97362 |
| Hemochromatosis, Type 3 |
|
Fatigue |
OMIM:604250 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Fatigue |
ORPHA:231401 |
| Satoyoshi Syndrome |
|
Fatigue, Skeletal muscle hypertrophy |
OMIM:600705 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Neurodegeneration, Chorea, Hypomimic face, Choreoathetosis |
OMIM:606159 |
| Kufor-Rakeb Syndrome |
|
Leg muscle stiffness, Distal sensory impairment, Fatigue, Torticollis, Ataxia |
OMIM:606693 |
| Japanese Encephalitis |
|
Pill-rolling tremor, Tremor, Hyponatremia, Opisthotonus, Dystonia, Choreoathetosis |
ORPHA:79139 |
| Pediatric Hepatocellular Carcinoma |
|
Abdominal pain, Epigastric pain, Fatigue |
ORPHA:33402 |
| Infant Botulism |
|
Hyponatremia |
ORPHA:178478 |
| Mirage Syndrome |
|
Hyponatremia, Hyperkalemia |
OMIM:617053 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Fatigue, Ataxia |
ORPHA:927 |
| Autoinflammation With Infantile Enterocolitis |
|
Myalgia, Arthralgia, Fatigue |
OMIM:616050 |
| Porphyria Variegata |
|
Hyponatremia, Abnormal circulating porphyrin concentration |
ORPHA:79473 |
| Acute Adrenal Insufficiency |
|
Hyperuricemia, Hyponatremia, Hyperkalemia, Hypercalcemia, Increased circulating renin level |
ORPHA:95409 |
| Angiostrongyliasis |
|
Hyperesthesia, Neck pain, Paresthesia, Myalgia, Pain, Arthralgia, Fatigue, Abdominal pain |
ORPHA:74 |
| Autosomal Dominant Dopa-Responsive Dystonia |
|
Impaired vibration sensation in the lower limbs, Gait ataxia, Fatigue, Progressive flexion contra... |
ORPHA:98808 |
| Osteopetrosis, Autosomal Dominant 3 |
|
Asthenia, Fatigue |
OMIM:618107 |
| Juvenile Nephropathic Cystinosis |
|
Hypouricemia, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hypocalcemia, H... |
ORPHA:411634 |
| Cold Agglutinin Disease |
|
Arthralgia, Fatigue, Back pain |
ORPHA:56425 |
| Legionnaires Disease |
|
Hyponatremia |
ORPHA:549 |
| Familial Glucocorticoid Deficiency |
|
Hyponatremia, Hyperkalemia |
ORPHA:361 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Ataxia, Exercise intolerance, Cerebellar atrophy, Quadriceps muscle weakness, Shoulder girdle mus... |
ORPHA:254892 |
| Hsd10 Disease, Infantile Type |
|
Frontotemporal cerebral atrophy, Cerebral atrophy, Neurodegeneration, Diffuse cerebral atrophy, C... |
ORPHA:391428 |
| Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Chest pain, Fatigue |
ORPHA:422 |
| Gm2 Gangliosidosis, Ab Variant |
|
Neurodegeneration, Chorea, Cerebral atrophy |
ORPHA:309246 |
| Rabin-Pappas Syndrome |
|
Hyponatremia |
OMIM:620155 |
| Cryptogenic Organizing Pneumonia |
|
Night sweats, Chest pain, Arthralgia, Fatigue |
ORPHA:1302 |
| Proximal Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Quadriceps muscle weakness, Elbow flexion contracture, Facial diplegia, ... |
ORPHA:70 |
| Polymyositis |
|
Myalgia, Arthralgia, Fatigue, Abnormal muscle fiber morphology, Abdominal pain |
ORPHA:732 |
| Myotonia Fluctuans |
|
Spasticity of facial muscles, Myalgia, Fatigue |
ORPHA:99734 |
| Rheumatoid Arthritis |
|
Digital flexor tenosynovitis, Arthralgia, Fatigue |
OMIM:180300 |
| New-Onset Refractory Status Epilepticus |
|
Global brain atrophy, Fatigue |
ORPHA:363558 |
| Ataxia-Telangiectasia-Like Disorder 2 |
|
Cerebellar atrophy, Neurodegeneration, Congenital diaphragmatic hernia, Joint contracture, Ataxia |
OMIM:615919 |
| Refractory Anemia |
|
Fatigue |
ORPHA:98826 |
| Isolated Agammaglobulinemia |
|
Fatigue |
ORPHA:229717 |
| Necrotizing Enterocolitis |
|
Hyponatremia |
ORPHA:391673 |
| Insulinoma |
|
Paresthesia, Fatigue, Abnormality of pain sensation |
ORPHA:97279 |
| Whipple Disease |
|
Hyponatremia |
ORPHA:3452 |
| Idiopathic Pulmonary Fibrosis |
|
Exercise intolerance, Fatigue |
ORPHA:2032 |
| Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hypercalcemia, Hyperuricemia |
ORPHA:199299 |
| Glycogen Storage Disease Ixa1 |
|
Fatigue |
OMIM:306000 |
| Leishmaniasis |
|
Night sweats, Arthralgia, Fatigue |
ORPHA:507 |
| Non-Functioning Paraganglioma |
|
Chest pain, Fatigue, Episodic abdominal pain |
ORPHA:94080 |
| Dubin-Johnson Syndrome |
|
Abdominal pain, Fatigue |
ORPHA:234 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Abdominal pain, Fatigue |
ORPHA:65682 |
| Congenital Heart Block |
|
Exercise intolerance, Fatigue |
ORPHA:60041 |
| Cholestasis-Lymphedema Syndrome |
|
Abdominal pain, Fatigue, Bone pain |
ORPHA:1414 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hypokalemia, Hyponatremia, Hypocalcemia, Calcinosis |
OMIM:617913 |
| Adiposis Dolorosa |
|
Arthralgia, Paresthesia, Fatigue |
ORPHA:36397 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Flexion contracture, Fatigue |
ORPHA:98791 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
| Alg12-Cdg |
|
Hyponatremia, Hypocholesterolemia, Hypoalbuminemia |
ORPHA:79324 |
| Bartter Syndrome Type 4 |
|
Hypomagnesemia, Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level |
ORPHA:89938 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Hyperkalemia |
ORPHA:90790 |
| Muckle-Wells Syndrome |
|
Myalgia, Arthralgia, Chronic fatigue |
OMIM:191900 |
| Narcolepsy 3 |
|
Narcolepsy |
OMIM:609039 |
| Pituicytoma |
|
Fatigue |
ORPHA:251623 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Ankle flexion contracture, Hypoplasia of the musculature, Shoulder girdle muscle weakness, Elbow ... |
ORPHA:2020 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Pain insensitivity, Fatigue, Scapular winging |
OMIM:617061 |
| Fixed Drug Eruption |
|
Fatigue, Chills |
ORPHA:293812 |
| Aggressive Systemic Mastocytosis |
|
Arthralgia, Fatigue, Constitutional symptom, Abdominal pain, Abdominal cramps, Bone pain |
ORPHA:98850 |
| Acute Intermittent Porphyria |
|
Hyponatremia, Tremor |
ORPHA:79276 |
| Relapsing Fever |
|
Myalgia, Arthralgia, Fatigue, Abdominal pain, Chills |
ORPHA:91547 |
| Evans Syndrome |
|
Fatigue |
ORPHA:1959 |
| Glioblastoma |
|
Fatigue |
ORPHA:360 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Neurodegeneration |
OMIM:620210 |
| Adenohypophysitis |
|
Hyponatremia |
ORPHA:95512 |
| Chronic Beryllium Disease |
|
Fatigue |
ORPHA:133 |
| Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Fatigue |
OMIM:274300 |
| Chédiak-Higashi Syndrome |
|
Increased circulating ferritin concentration, Tremor, Hyponatremia, Hypertriglyceridemia, Hypopro... |
ORPHA:167 |
| Cronkhite-Canada Syndrome |
|
Abdominal pain, Fatigue |
ORPHA:2930 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hypokalemia, Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Hypo... |
ORPHA:90038 |
| Corticosteroid-Binding Globulin Deficiency |
|
Asthenia, Fatigue |
OMIM:611489 |
| Krabbe Disease |
|
Neurodegeneration, Diffuse cerebral atrophy |
OMIM:245200 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Arthralgia, Fatigue |
ORPHA:90036 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Neurodegeneration, Cerebellar atrophy, Cerebral atrophy |
OMIM:300894 |
| Addison Disease |
|
Hyperuricemia, Hyponatremia, Hyperkalemia, Hypercalcemia, Increased circulating renin level |
ORPHA:85138 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol concentration, Increased circulating... |
ORPHA:168558 |
| Panhypophysitis |
|
Hyponatremia |
ORPHA:95513 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Exercise intolerance, Left ventricular hypertrophy, Fatigue, Myopathy |
OMIM:617713 |
| Giant Cell Arteritis |
|
Paresthesia, Myalgia, Gangrene, Arthralgia, Fatigue, Ataxia, Abdominal pain, Sudden cardiac death |
ORPHA:397 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol concentration, Increased circulating... |
ORPHA:289548 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Chorea, Gait ataxia, Dysmetria, Dysdiado... |
OMIM:610217 |
| Systemic Capillary Leak Syndrome |
|
Abdominal pain, Myalgia, Fatigue, Constitutional symptom |
ORPHA:188 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Fatigue |
OMIM:619463 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Central nervous system degeneration, Myalgia, Myositis, Arthralgia, Fatigue, Abdominal pain |
ORPHA:183 |
| Autoerythrocyte Sensitization Syndrome |
|
Asthenia, Epigastric pain, Myalgia, Pain, Arthralgia, Fatigue, Intramuscular hematoma |
ORPHA:324636 |
| Erythrocytosis, Familial, 1 |
|
Fatigue |
OMIM:133100 |
| Avian Influenza |
|
Chest pain, Myalgia, Rhabdomyolysis, Fatigue, Abdominal pain |
ORPHA:454836 |
| Thyroid Hypoplasia |
|
Macroglossia, Fatigue |
ORPHA:95720 |
| Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Exercise intolerance, Myalgia, Fatigue, Exercise-induced myalgia |
OMIM:618250 |
| Acquired Methemoglobinemia |
|
Abdominal pain, Fatigue |
ORPHA:464453 |
| Alveolar Echinococcosis |
|
Ataxia, Asthenia, Chest pain, Epigastric pain, Abnormal skeletal muscle morphology, Low back pain... |
ORPHA:284 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hypokalemia, Hyperchloriduria, Hyponatremia, Hypochloremia |
OMIM:602522 |
| Loeffler Endocarditis |
|
Chest pain, Left ventricular hypertrophy, Fatigue |
ORPHA:75566 |
| Postorgasmic Illness Syndrome |
|
Fatigue |
ORPHA:279947 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Exercise intolerance, Skeletal muscle atrophy, Myalgia, Rhabdomyolysis, Fatigue, Limb-girdle musc... |
ORPHA:79240 |
| Pituitary Apoplexy |
|
Hyponatremia |
ORPHA:95613 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Fatigue |
ORPHA:90037 |
| Familial Dysautonomia |
|
Hyponatremia |
ORPHA:1764 |
| Shigellosis |
|
Hyponatremia, Abnormal blood ion concentration |
ORPHA:810 |
| Cystinosis |
|
Fatigue, Myopathy |
ORPHA:213 |
| Primary Myelofibrosis |
|
Flank pain, Fatigue, Constitutional symptom |
ORPHA:824 |
| Tick-Borne Encephalitis |
|
Skeletal muscle atrophy, Somatic sensory dysfunction, Limb pain, Myalgia, Arthralgia, Fatigue, Fa... |
ORPHA:297 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Cerebral atrophy, Neurodegeneration, Chorea, Gait ataxia, Left ventricular hypertrophy, Ataxia |
OMIM:618321 |
| Immunodeficiency 70 |
|
Chronic fatigue |
OMIM:618969 |
| Kaposi Sarcoma |
|
Fatigue |
ORPHA:33276 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:201810 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Blepharospasm, Oculogyric crisis, Limb dystonia, Limb tremor, Torticollis, Exaggerated startle re... |
OMIM:608643 |
| Autosomal Agammaglobulinemia |
|
Fatigue |
ORPHA:33110 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Fatigue, Bone pain |
ORPHA:89937 |
| Aregenerative Anemia |
|
Fatigue, Fatigable weakness of skeletal muscles |
ORPHA:101096 |
| Cinca Syndrome |
|
Myalgia, Arthralgia, Fatigue |
ORPHA:1451 |
| Thyroid Hemiagenesis |
|
Macroglossia, Fatigue |
ORPHA:95719 |
| Narcolepsy 1 |
|
Narcolepsy |
OMIM:161400 |
| Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Fatigue, Chills |
ORPHA:86884 |
| Gm2-Gangliosidosis, Ab Variant |
|
Neurodegeneration, Chorea, Cerebral atrophy |
OMIM:272750 |
| Acute Interstitial Pneumonia |
|
Myalgia, Arthralgia, Fatigue, Chest pain |
ORPHA:79126 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Exercise intolerance, Lower limb muscle weakness, Chronic pain, Left ventricular hypertrophy, Fat... |
ORPHA:365 |
| Acute Transverse Myelitis |
|
Impaired vibratory sensation, Somatic sensory dysfunction, Upper limb muscle weakness, Dissociate... |
ORPHA:139417 |
| Lead Poisoning |
|
Impairment of activities of daily living, Somatic sensory dysfunction, Fatigue, Abdominal pain, A... |
ORPHA:330015 |
| Glucocorticoid Resistance, Generalized |
|
Fatigue |
OMIM:615962 |
| Post-Traumatic Pituitary Deficiency |
|
Fatigue |
ORPHA:95619 |
| Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Hyponatremia |
OMIM:618252 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Fatigue |
ORPHA:3226 |
| Combined Oxidative Phosphorylation Defect Type 29 |
|
Diffuse cerebellar atrophy, Neurodegeneration, Global brain atrophy, Axonal degeneration |
ORPHA:478029 |
| Multiple System Atrophy 1, Susceptibility To |
|
Neurodegeneration, Urinary incontinence, Skeletal muscle atrophy, Ataxia |
OMIM:146500 |
| Progressive Supranuclear Palsy |
|
Cerebral cortical atrophy, Neuronal loss in central nervous system, Abnormal synaptic transmission |
ORPHA:683 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Cerebral atrophy, Neurodegeneration, Gait ataxia, Rhabdomyolysis, Ataxia, Acute rhabdomyolysis |
OMIM:616878 |
| Holoprosencephaly |
|
Hyponatremia, Dystonia |
ORPHA:2162 |
| Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hyperkalemia, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:275761 |
| Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
| Gitelman Syndrome |
|
Paresthesia, Rhabdomyolysis, Arthralgia, Fatigue, Ataxia, Abdominal pain |
OMIM:263800 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Sheehan Syndrome |
|
Hyponatremia |
ORPHA:91355 |
| Adult-Onset Still Disease |
|
Asthenia, Myalgia, Arthralgia, Fatigue, Arthralgia/arthritis, Abdominal pain, Pharyngalgia |
ORPHA:829 |
| Cystinosis, Nephropathic |
|
Decreased circulating carnitine concentration, Hypomagnesemia, Hypophosphatemic rickets, Hypokale... |
OMIM:219800 |
| X-Linked Agammaglobulinemia |
|
Fatigue |
ORPHA:47 |
| Narcolepsy 7 |
|
Narcolepsy |
OMIM:614250 |
| Mixed Connective Tissue Disease |
|
Chest pain, Myalgia, Myositis, Arthralgia, Fatigue |
ORPHA:809 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Abdominal pain, Arthralgia, Fatigue, Decreased muscle mass |
ORPHA:465508 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia |
ORPHA:293978 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Arthralgia, Fatigue |
ORPHA:90033 |
| Parkinson Disease 20, Early-Onset |
|
Cerebral cortical atrophy, Fatigue, Leg muscle stiffness |
OMIM:615530 |
| Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
| Botulism |
|
Abdominal pain, Fatigue |
ORPHA:1267 |
| Barth Syndrome |
|
Exercise intolerance, Fatigue, Skeletal myopathy |
OMIM:302060 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Tendon rupture, Left ventricular hypertrophy, Tendon thickening, Fatigue |
ORPHA:230851 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hypokalemia, Hyponatremia |
OMIM:618426 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Distal amyotrophy, Cerebellar atrophy, Neurodegeneration, Scapular winging, Ataxia |
OMIM:614298 |
| Iatrogenic Botulism |
|
Fatigue |
ORPHA:254509 |
| Idiopathic Pulmonary Hemosiderosis |
|
Fatigue |
ORPHA:99931 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Exercise intolerance, Fatigue |
ORPHA:99105 |
| Acute Promyelocytic Leukemia |
|
Abdominal pain, Fatigue, Gangrene, Bone pain |
ORPHA:520 |
| Peripartum Cardiomyopathy |
|
Abdominal pain, Left ventricular hypertrophy, Fatigue, Chest pain |
ORPHA:563 |
| Inhalational Anthrax |
|
Fatigue |
ORPHA:247257 |
| Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Exercise intolerance, Skeletal muscle atrophy, Myalgia, Fatigue, Increased sarcoplasmic glycogen |
ORPHA:264580 |
| Cyclic Neutropenia |
|
Abdominal pain, Fatigue, Bone pain |
ORPHA:2686 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| Familial Colorectal Cancer Type X |
|
Abdominal pain, Flexion contracture, Paresthesia, Fatigue |
ORPHA:440437 |
| Vexas Syndrome |
|
Night sweats, Arthralgia, Fatigue |
OMIM:301054 |
| Inhalational Botulism |
|
Fatigue |
ORPHA:254504 |
| Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Bilateral camptodactyly, Fatigue, Back pain |
OMIM:619234 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hyperkalemia, Hypocalcemia |
ORPHA:544482 |
| Reynolds Syndrome |
|
Myalgia, Fatigue |
ORPHA:779 |
| Erythrocytosis, Familial, 2 |
|
Fatigue |
OMIM:263400 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, Hypoammonemia |
ORPHA:534 |
| Klatskin Tumor |
|
Abdominal pain, Fatigue |
ORPHA:99978 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Fatigue |
ORPHA:263455 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Myalgia, Fatigue |
ORPHA:542323 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Fatigue, Bone pain |
ORPHA:324964 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Fatigue |
OMIM:615954 |
| Solitary Fibrous Tumor |
|
Night sweats, Fatigue, Low back pain |
ORPHA:2126 |
| Refractory Anemia With Excess Blasts |
|
Fatigue, Bone pain |
ORPHA:86839 |
| Polycythemia Vera |
|
Erythromelalgia, Paresthesia, Arthralgia, Fatigue, Abdominal pain |
ORPHA:729 |
| Bone Marrow Failure Syndrome 6 |
|
Chronic fatigue, Myalgia |
OMIM:618849 |
| Malignant Atrophic Papulosis |
|
Pain insensitivity, Abdominal pain, Fatigue, Chest pain |
ORPHA:679 |
| Congenital Disorder Of Glycosylation, Type It |
|
Exercise intolerance, Fatigue, Sudden cardiac death, Rhabdomyolysis |
OMIM:614921 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Narcolepsy, Hyperlipidemia |
ORPHA:293987 |
| Neuroblastoma |
|
Bone pain, Fatigue, Ataxia |
ORPHA:635 |
| Poems Syndrome |
|
Hyperesthesia, Paresthesia, Fatigue, Pain |
ORPHA:2905 |
| Immunodeficiency 97 With Autoinflammation |
|
Abdominal pain, Fatigue |
OMIM:619802 |
| Chronic Myeloid Leukemia |
|
Fatigue |
ORPHA:521 |
| Acute Panmyelosis With Myelofibrosis |
|
Low back pain, Fatigue |
ORPHA:86843 |
| Cystic Echinococcosis |
|
Epigastric pain, Fatigue, Abnormality of the diaphragm |
ORPHA:400 |
| Congenital Gerbode Defect |
|
Chest pain, Fatigue, Right ventricular hypertrophy |
ORPHA:99095 |
| Acute Monoblastic/Monocytic Leukemia |
|
Fatigue |
ORPHA:514 |
| Simple Cryoglobulinemia |
|
Spontaneous pain sensation, Paresthesia, Arthralgia, Fatigue, Abdominal pain |
ORPHA:91139 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Chest pain, Fatigue, Episodic abdominal pain |
ORPHA:276621 |
| Stiff-Person Syndrome |
|
Opisthotonus, Exaggerated startle response |
OMIM:184850 |
| Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Lower limb pain, Fatigue |
OMIM:261990 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Truncal titubation, Tremor, Exaggerated startle response |
OMIM:618056 |
| Hereditary Xanthinuria |
|
Chronic fatigue, Flank pain, Myopathy |
ORPHA:3467 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
| Hennekam-Beemer Syndrome |
|
Abdominal pain, Fatigue, Camptodactyly of finger |
ORPHA:2135 |
| Listeriosis |
|
Somatic sensory dysfunction, Myalgia, Rhabdomyolysis, Arthralgia, Fatigue, Ataxia, Abdominal pain... |
ORPHA:533 |
| Juvenile Dermatomyositis |
|
Myalgia, Myositis, Arthralgia, Fatigue, Calcinosis, Abdominal pain |
ORPHA:93672 |
| Tay-Sachs Disease |
|
Increased serum beta-hexosaminidase, Laryngeal dystonia, Tremor, Exaggerated startle response, Dy... |
ORPHA:845 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Achilles tendon calcification, Fatigue |
OMIM:617994 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response |
ORPHA:320406 |
| Macs Syndrome |
|
Fatigue |
OMIM:613075 |
| Liver Disease, Severe Congenital |
|
Increased circulating ferritin concentration, Hyperbilirubinemia, Hypocalcemia, Hyperammonemia, H... |
OMIM:619991 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Fatigue |
ORPHA:98870 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response |
OMIM:620114 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Global brain atrophy, Decreased muscle mass, Neurodegeneration, Cerebral degeneration, Myopathy, ... |
OMIM:234200 |
| Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
| Waldenström Macroglobulinemia |
|
Fatigue, Ataxia |
ORPHA:33226 |
| Ebstein Malformation Of The Tricuspid Valve |
|
Chest pain, Fatigue, Sudden cardiac death |
ORPHA:1880 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Chest pain, Fatigue |
ORPHA:747 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Narcolepsy, Head tremor, Resting tremor |
ORPHA:314404 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Myalgia, Arthralgia, Fatigue, Abdominal pain, Bone pain |
ORPHA:98849 |
| Isolated Right Ventricular Hypoplasia |
|
Fatigue |
ORPHA:439 |
| Acute Radiation Syndrome |
|
Fatigue |
ORPHA:454831 |
| Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Neurodegeneration, Ataxia |
OMIM:618476 |
| Septo-Optic Dysplasia Spectrum |
|
Fatigue |
ORPHA:3157 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Fatigue, Ataxia |
ORPHA:20 |
| Hellp Syndrome |
|
Shoulder pain, Epigastric pain, Fatigue, Abdominal pain, Back pain |
ORPHA:244242 |
| Cerebral Visual Impairment |
|
Neurodegeneration, Central nervous system degeneration |
ORPHA:447788 |
| Mucopolysaccharidosis, Type Ii |
|
Neurodegeneration, Macroglossia, Flexion contracture |
OMIM:309900 |
| Functioning Gonadotropic Adenoma |
|
Fatigue |
ORPHA:91348 |
| Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
