| Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
| Sub-Cortical Nodular Heterotopia |
|
Polymicrogyria, Subcortical heterotopia, Agenesis of corpus callosum, Abnormality of neuronal mig... |
ORPHA:101029 |
| Lissencephaly, X-Linked, 1 |
|
Gray matter heterotopia, Lissencephaly, Pachygyria, Agenesis of corpus callosum, Agyria |
OMIM:300067 |
| Chudley-Mccullough Syndrome |
|
Gray matter heterotopia, Partial agenesis of the corpus callosum, Polymicrogyria, Dysplastic corp... |
OMIM:604213 |
| Lissencephaly 3 |
|
Periventricular laminar heterotopia, Pachygyria, Gray matter heterotopia, Lissencephaly, Polymicr... |
OMIM:611603 |
| Thrombocythemia 3 |
|
Thrombocytosis, Ischemic stroke |
OMIM:614521 |
| Mismatch Repair Cancer Syndrome 4 |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:619101 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
OMIM:263300 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Congest... |
ORPHA:75564 |
| Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria |
OMIM:615411 |
| Band Heterotopia |
|
Subcortical band heterotopia, Gray matter heterotopia, Lateral ventricle dilatation, Polymicrogyr... |
OMIM:600348 |
| Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
| Lissencephaly 1 |
|
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria |
OMIM:607432 |
| Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
| Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
| Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
| Microlissencephaly |
|
Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa... |
ORPHA:1083 |
| Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
| Exudative Vitreoretinopathy 3 |
|
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Hypoproteinemia, Chorioretinal coloboma |
ORPHA:1116 |
| Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Epistaxis, Diffuse alveolar hemorrhage, Asplenia, Hypertension, Coombs-positive... |
OMIM:614034 |
| Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
| Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
| X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
| Thrombocythemia 1 |
|
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... |
OMIM:187950 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
| Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Gray matter heterotopia, Pachygyria, Agyria |
ORPHA:1084 |
| Obesity Due To Sim1 Deficiency |
|
Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous system physiology,... |
ORPHA:369873 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Optic nerve hypoplasia, Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of cor... |
ORPHA:250972 |
| Primary Myelofibrosis |
|
Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, Leukocytosis, ... |
ORPHA:824 |
| Thrombocytopenia 6 |
|
Myelofibrosis, Spontaneous, recurrent epistaxis, Osteoporosis |
OMIM:616937 |
| Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... |
ORPHA:3282 |
| Nodular Neuronal Heterotopia |
|
Abnormality of neuronal migration |
ORPHA:2149 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia |
ORPHA:88643 |
| Diarrhea 13 |
|
Hypoalbuminemia |
OMIM:620357 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... |
ORPHA:86841 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Perisylvian polymicrogyria, Gray matter heterotopia, Lateral ventricle dilatation, Lissencephaly,... |
ORPHA:300573 |
| Thrombocythemia 2 |
|
Thrombocytosis |
OMIM:601977 |
| Primary Membranoproliferative Glomerulonephritis |
|
Drusen, Hypoalbuminemia |
ORPHA:54370 |
| Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Periventricular nodular heterotopia, Periventricular heterotopia |
OMIM:608097 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Hypoproteinemia |
OMIM:207731 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Hypoalbuminemia, Hypermethioninemia |
OMIM:613752 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... |
OMIM:619868 |
| Autosomal Recessive Primary Microcephaly |
|
Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum |
ORPHA:2512 |
| Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology, Motor conduction block |
DECIPHER:31 |
| Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
| Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
| Immunodeficiency 43 |
|
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia |
OMIM:241600 |
| Analbuminemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... |
OMIM:616000 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic disc pallor, Periventricular heterotopia, Partial agenesis of the corpus callosum, Optic at... |
OMIM:616171 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia |
ORPHA:158048 |
| Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology |
DECIPHER:29 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Thrombocy... |
OMIM:617780 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... |
ORPHA:232 |
| Multiple Myeloma |
|
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia |
ORPHA:29073 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch... |
ORPHA:90041 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Postural tremor, Elevated circulating creatine kinase concentration, Elevated circulating alpha-f... |
ORPHA:64753 |
| Lissencephaly 6 With Microcephaly |
|
Periventricular heterotopia, Pachygyria, Partial agenesis of the corpus callosum, Simplified gyra... |
OMIM:616212 |
| Asplenia, Isolated Congenital |
|
Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Hepatosplenomegaly, Pancytopenia, Thrombocytosis, Microcytic anemia |
OMIM:604416 |
| Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia |
OMIM:152800 |
| Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
| Myxopapillary Ependymoma |
|
Abnormal conus terminalis morphology, Autonomic bladder dysfunction |
ORPHA:251643 |
| Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia, Histiocytosis |
OMIM:209950 |
| Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Pachygyria, Simplified gyral pattern, Abnormality of neuronal migration, Gray matter heterotopia,... |
OMIM:604317 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
| Familial Thrombocytosis |
|
Acute myeloid leukemia, Transient ischemic attack, Thrombocytosis, Splenomegaly, Chronic myelogen... |
ORPHA:71493 |
| Glutathionuria |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:231950 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Raynaud phenomenon, Telangiectasia, Leukopenia, Thrombocytosis, Lymphopenia, Anemia |
OMIM:615934 |
| Paramyotonia Congenita Of Von Eulenburg |
|
Handgrip myotonia, Myotonia of the upper limb, Myotonia, Myotonia of the face, Cold-sensitive myo... |
ORPHA:684 |
| Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Dyst... |
OMIM:616267 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Pulmonary embolism, Iron deficiency anemia, Budd-Chiari syndrome, Thrombocytosis, Anemia |
OMIM:226300 |
| Essential Thrombocythemia |
|
Myelofibrosis, Transient ischemic attack, Myocardial infarction |
ORPHA:3318 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
| Episodic Pain Syndrome, Familial, 3 |
|
Abnormal autonomic nervous system physiology |
OMIM:615552 |
| Chylomicron Retention Disease |
|
Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia |
OMIM:246700 |
| Myotonia Congenita, Autosomal Dominant |
|
Handgrip myotonia, Myotonia, Percussion myotonia, Myotonia with warm-up phenomenon, EMG: myotonic... |
OMIM:160800 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
| Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
| Subependymal Nodular Heterotopia |
|
Gray matter heterotopia, Partial agenesis of the corpus callosum, Polymicrogyria, Abnormality of ... |
ORPHA:101030 |
| Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
| Alg6-Cdg |
|
Rod-cone dystrophy, Hypoalbuminemia, Decreased LDL cholesterol concentration, Retinal degeneration |
ORPHA:79320 |
| Leptospirosis |
|
Papilledema, Retinal hemorrhage, Chorioretinitis, Hyperproteinemia, Optic neuritis, Macular cotto... |
ORPHA:509 |
| Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
| Nephrotic Syndrome, Type 7 |
|
Hypoalbuminemia |
OMIM:615008 |
| Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Tremor, Hype... |
ORPHA:247585 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
| Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia |
OMIM:260450 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna |
OMIM:231095 |
| Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
| Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Decreased motor nerve conduction velocity, Abnormal spinal cord morphology, Abnormal autonomic ne... |
ORPHA:139578 |
| Beta-Ketothiolase Deficiency |
|
Hypertension, Leukocytosis, Thrombocytosis, Hypotension |
ORPHA:134 |
| Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology |
OMIM:183020 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormality of neuronal migration |
OMIM:618709 |
| Chiari Malformation Type Ii |
|
Spina bifida, Gray matter heterotopia, Cervical myelopathy, Syringomyelia, Agenesis of corpus cal... |
OMIM:207950 |
| Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Increased QRS voltage, Knee flexi... |
OMIM:619040 |
| Symmetrical Thalamic Calcifications |
|
Arrhythmia, Abnormality of neuronal migration |
ORPHA:1314 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
| Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Epistaxis, Impaired platelet adhesion, Autoimmune thrombocytopenia, ... |
ORPHA:324636 |
| Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... |
OMIM:600059 |
| Orthostatic Intolerance |
|
Orthostatic tachycardia |
OMIM:604715 |
| Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
| Refractory Celiac Disease |
|
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
4-layered lissencephaly, Agenesis of corpus callosum, Abnormality of neuronal migration, Microlis... |
ORPHA:89844 |
| Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia |
ORPHA:2494 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Cardiac arrest, Leukocytosis, Dilated cardiomyopathy, Leukopenia, Hypotension, Thrombocytosis, An... |
ORPHA:20 |
| Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Elevated circulating creatine kinase concentration, Tremor, Hypoalbuminemia, Dystonia, Hyperchole... |
OMIM:208920 |
| Persistent Idiopathic Facial Pain |
|
Abnormal autonomic nervous system physiology |
ORPHA:398147 |
| Congenital Disorder Of Glycosylation, Type Ij |
|
Tremor, Hypoproteinemia |
OMIM:608093 |
| Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology |
OMIM:611637 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... |
OMIM:243150 |
| Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
| Dysautonomia-Like Disorder |
|
Abnormal autonomic nervous system physiology |
OMIM:224000 |
| Cardiomyopathy, Familial Restrictive, 3 |
|
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... |
OMIM:612422 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Gray matter heterotopia, Optic atrophy, Type II lissencephaly, Dysgyria |
ORPHA:352682 |
| Cogan Syndrome |
|
Aortic regurgitation, Leukocytosis, Vasculitis, Large vessel vasculitis, Thrombocytosis, Anemia |
ORPHA:1467 |
| Neuroleptic Malignant Syndrome |
|
Tachycardia, Pulmonary embolism, Thrombocytopenia, Leukocytosis, Hypertension, Bradycardia, Hypot... |
ORPHA:94093 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Pancytopenia, Portal hypertension, Raynaud phenomenon, Splenomegaly, Leukocytosis, Vasculitis, Di... |
OMIM:615688 |
| Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Abnormal autonomic nervous system physiology, T... |
ORPHA:101016 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Myelofibrosis, Angina pectoris, Epistaxis, Portal hypertension, Pulm... |
ORPHA:729 |
| Snakebite Envenomation |
|
Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral ischemia, Hypote... |
ORPHA:449285 |
| Attrv30M Amyloidosis |
|
Cardiomyopathy, Arrhythmia, Abnormal autonomic nervous system physiology, Atrioventricular block |
ORPHA:85447 |
| Hemimegalencephaly |
|
Optic atrophy, Gray matter heterotopia, Pachygyria, Polymicrogyria, Abnormal neuron morphology |
ORPHA:99802 |
| Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
| Bilateral Striopallidodentate Calcinosis |
|
Abnormality of neuronal migration |
ORPHA:1980 |
| Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, ... |
ORPHA:85451 |
| Oculocerebrocutaneous Syndrome |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:164180 |
| Chromosome 14Q32 Duplication Syndrome, 700-Kb |
|
Myelofibrosis |
OMIM:616604 |
| Multiple System Atrophy |
|
Raynaud phenomenon, Orthostatic syncope, Abnormal autonomic nervous system physiology, Autonomic ... |
ORPHA:102 |
| Idiopathic Hypereosinophilic Syndrome |
|
Neutrophilia, Transient ischemic attack, Eosinophilia, Supraventricular arrhythmia, Pulmonary emb... |
ORPHA:3260 |
| Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
| Riboflavin Transporter Deficiency |
|
Optic disc pallor, Facial palsy, Hypertension, Abnormal autonomic nervous system physiology, Abno... |
ORPHA:97229 |
| Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Congestive heart failure, Abnormal autonomic nervous system ... |
ORPHA:330001 |
| Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Abnormal autonomic nervous system physiology |
DECIPHER:59 |
| Gray Platelet Syndrome |
|
Myelofibrosis, Epistaxis |
OMIM:139090 |
| Multiple System Atrophy, Parkinsonian Type |
|
Raynaud phenomenon, Orthostatic syncope, Abnormal autonomic nervous system physiology, Autonomic ... |
ORPHA:98933 |
| Myotonia Congenita, Autosomal Recessive |
|
Percussion myotonia, Myotonia with warm-up phenomenon, Myotonia, EMG: myotonic runs |
OMIM:255700 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... |
OMIM:603553 |
| Immunodeficiency 92 |
|
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... |
OMIM:619652 |
| Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Abnormal circulating albumin concentration, Retinal h... |
ORPHA:86839 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Cardiomyopathy, Pericarditis, Thrombocytosis |
OMIM:212065 |
| Maternal Hyperthermia-Induced Birth Defects |
|
Abnormality of neuronal migration |
ORPHA:2216 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Myelofibrosis |
OMIM:617441 |
| Cutaneous Mastocytoma |
|
Telangiectasia of the skin, Hypotension, Telangiectasia macularis eruptiva perstans |
ORPHA:79455 |
| Mitchell Syndrome |
|
Abnormal autonomic nervous system physiology |
OMIM:618960 |
| Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
ORPHA:90362 |
| Perry Syndrome |
|
Hypotension |
ORPHA:178509 |
| Late-Onset Familial Hypoaldosteronism |
|
Orthostatic hypotension, Hypotension |
ORPHA:556037 |
| Alexander Disease |
|
Facial palsy, Sudden cardiac death, Hypertension, Abnormal autonomic nervous system physiology, H... |
ORPHA:58 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vii |
|
Abnormal autonomic nervous system physiology |
OMIM:615548 |
| Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Hypoalbuminemia, Elevated circulating C-reactive pr... |
OMIM:616050 |
| Variant Abeta2M Amyloidosis |
|
Spinal cord compression, Reduced left ventricular ejection fraction, Abnormal autonomic nervous s... |
ORPHA:314652 |
| Poems Syndrome |
|
Pulmonary arterial hypertension, Thrombocytosis, Polycythemia |
ORPHA:2905 |
| Tako-Tsubo Cardiomyopathy |
|
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... |
ORPHA:66529 |
| Nipah Virus Disease |
|
Hypotension |
ORPHA:99825 |
| Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology |
ORPHA:247604 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Optic nerve hypoplasia, Partial agenesis of the corpus callosum, Simplified gyral pattern, Latera... |
ORPHA:300570 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Tricuspid stenosis, Congenital hypoplastic anemia, Congestive heart failure, R... |
OMIM:105650 |
| Dengue Fever |
|
Hypoproteinemia |
ORPHA:99828 |
| Brody Disease |
|
Myotonia, Percussion myotonia, Flexion contracture |
OMIM:601003 |
| Early-Onset Familial Hypoaldosteronism |
|
Orthostatic hypotension, Hypotension |
ORPHA:556030 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricular contractio... |
OMIM:212138 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Ventricular escape rhythm, Myotonia, Supraventricular arrhythmia, Sudden cardiac death... |
ORPHA:98855 |
| Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Corticospinal tract hypoplasia, Pachygyria, Agenesis of corpus callosum, Periventricular heterotopia |
ORPHA:255138 |
| Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Bradycardia, Cardiac arrest, Hypotension |
ORPHA:70587 |
| Richieri Costa-Da Silva Syndrome |
|
Handgrip myotonia, Myotonia of the upper limb, Kyphoscoliosis, Short neck, Limitation of joint mo... |
ORPHA:3101 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin |
OMIM:618528 |
| Multiple System Atrophy, Cerebellar Type |
|
Raynaud phenomenon, Orthostatic syncope, Abnormal autonomic nervous system physiology, Autonomic ... |
ORPHA:227510 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Dysplastic corpus callosum, Periventricular nodular heterotopia, Tachycardia, Optic disc pallor |
OMIM:619737 |
| Epilepsy, Familial Focal, With Variable Foci 4 |
|
Abnormal autonomic nervous system physiology |
OMIM:617935 |
| Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Ventricular escape rhythm, Myotonia, Sudden cardiac death, Supraventricular arrhythmia... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Ventricular escape rhythm, Myotonia, Sudden cardiac death, Supraventricular arrhythmia... |
ORPHA:98853 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Gastrointestinal hemorrhage, Myelofibrosis, Epistaxis |
OMIM:187900 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Ventricular escape rhythm, Myotonia, Supraventricular arrhythmia, Sudden cardiac death... |
ORPHA:98863 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Hypertension, Tachycardia, Aganglionic megacolon, Abnormal autonomic nervous system physiology |
OMIM:613870 |
| Myelofibrosis |
|
Myelofibrosis |
OMIM:254450 |
| Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia |
OMIM:618347 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hypoalbuminemia |
OMIM:618805 |
| Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Vertebral wedging, Myotonia, Kyphoscoliosis |
OMIM:255710 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... |
ORPHA:26793 |
| Lissencephaly 5 |
|
Gray matter heterotopia, Subcortical band heterotopia, Optic atrophy, Type II lissencephaly |
OMIM:615191 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hypotension |
ORPHA:91354 |
| Chromosome 5Q12 Deletion Syndrome |
|
Hypotension |
OMIM:615668 |
| Autosomal Dominant Epilepsy With Auditory Features |
|
Abnormal autonomic nervous system physiology |
ORPHA:101046 |
| Walker-Warburg Syndrome |
|
Abnormal cortical gyration, Pachygyria, Optic atrophy, Abnormality of neuronal migration, Macrogy... |
ORPHA:899 |
| Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, H... |
OMIM:263400 |
| Congenital Muscular Dystrophy Without Intellectual Disability |
|
Gray matter heterotopia, Pachygyria, Facial diplegia |
ORPHA:370980 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Optic atrophy, Abnormal autonomic nervous system physiology |
ORPHA:329284 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Optic atrophy, Abnormal autonomic nervous system physiology |
OMIM:610743 |
| Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... |
ORPHA:95459 |
| Trichohepatoenteric Syndrome 1 |
|
Aortic regurgitation, Increased mean platelet volume, Splenomegaly, Pulmonic stenosis, Thrombocyt... |
OMIM:222470 |
| Paramyotonia Congenita |
|
Percussion myotonia, Handgrip myotonia, Paradoxical myotonia |
OMIM:168300 |
| Polyglucosan Body Neuropathy, Adult Form |
|
Abnormal upper motor neuron morphology, Orthostatic hypotension |
OMIM:263570 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Optic nerve hypoplasia, Optic atrophy, Gray matter heterotopia, Cardiomyopathy, Polymicrogyria, A... |
ORPHA:370959 |
| Brain Small Vessel Disease 2 |
|
Intracranial hemorrhage, Subcortical heterotopia, Polymicrogyria |
OMIM:614483 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Heart block, Capillary leak, Reduced left ventricular ejection fraction, Hypotension... |
ORPHA:542323 |
| Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
| Syndromic Diarrhea |
|
Aortic regurgitation, Increased mean platelet volume, Splenomegaly, Patent ductus arteriosus, Hyp... |
ORPHA:84064 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Optic atrophy, Simplified gyral pattern, Gray matter heterotopia, Colpocephaly, Lissencephaly, Ag... |
OMIM:615219 |
| Adult Acute Respiratory Distress Syndrome |
|
Shock, Vasculitis, Hypotension |
ORPHA:70578 |
| Alg1-Cdg |
|
Hypoalbuminemia |
ORPHA:79327 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Subcortical heterotopia, Agyria, Optic nerve hypoplasia, Partial agenesis of the corpus callosum,... |
OMIM:614643 |
| Corticosteroid-Binding Globulin Deficiency |
|
Hypertension, Hypotension |
OMIM:611489 |
| Parkinson Disease 4, Autosomal Dominant |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology |
OMIM:605543 |
| Acalvaria |
|
Abnormality of neuronal migration, Spina bifida |
ORPHA:945 |
| Pierson Syndrome |
|
Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorrhage, Macular hypoplas... |
OMIM:609049 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Paucity of anterior horn motor neurons, Facial diplegia, Abnormal anterior horn cell morphology |
OMIM:611890 |
| 3-Hydroxyisobutyric Aciduria |
|
Abnormality of neuronal migration |
OMIM:236795 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:619013 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... |
ORPHA:247598 |
| Meningococcal Meningitis |
|
Shock, Papilledema, Hypotension |
ORPHA:33475 |
| Tetanus |
|
Tachycardia, Hypertension, Bradycardia, Abnormal autonomic nervous system physiology, Autonomic b... |
ORPHA:3299 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Hypotension |
OMIM:145600 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration, Hy... |
OMIM:242150 |
| Celiac Disease, Susceptibility To, 1 |
|
Iron deficiency anemia, Macrocytic anemia, Thrombocytosis |
OMIM:212750 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Abnormal upper motor neuron morphology, Lateral ventricle dilatation |
OMIM:221770 |
| Serotonin Syndrome |
|
Abnormality of the autonomic nervous system, Hypertension, Tachycardia, Hypotension |
ORPHA:43116 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot... |
OMIM:620300 |
| Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Melena, Mi... |
ORPHA:99147 |
| Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude |
OMIM:606353 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Facial palsy, Pachygyria, Abnormality of neuronal migration |
OMIM:608840 |
| Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Arrhythmia, Abnormal autonomic nervous system physiology, Cardiac arrest |
ORPHA:168593 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o... |
OMIM:602433 |
| Neuroendocrine Tumor Of The Colon |
|
Tricuspid regurgitation, Right ventricular failure, Melena, Palpitations, Hypotension, Facial tel... |
ORPHA:100080 |
| Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
| Pure Autonomic Failure |
|
Orthostatic hypotension, Syncope, Abnormal autonomic nervous system physiology |
ORPHA:441 |
| Pseudo-Torch Syndrome 2 |
|
Cerebral hemorrhage, Gray matter heterotopia, Lateral ventricle dilatation, Bradycardia, Polymicr... |
OMIM:617397 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hypotension |
OMIM:264350 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Abnormal autonomic nervous system physiology |
OMIM:618049 |
| Vici Syndrome |
|
Gray matter heterotopia, Optic atrophy, Agenesis of corpus callosum, Cardiomyopathy |
ORPHA:1493 |
| Poliomyelitis |
|
Abnormal motor nerve conduction velocity, Hypertension, Hypovolemic shock, Hypotension, Myelitis |
ORPHA:2912 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hypotension |
OMIM:620125 |
| Myotonia Fluctuans |
|
Handgrip myotonia, Myotonia of the upper limb, Myotonia of the lower limb, Cold-sensitive myotoni... |
ORPHA:99734 |
| Neuroendocrine Tumor Of The Rectum |
|
Tricuspid regurgitation, Right ventricular failure, Hematochezia, Melena, Palpitations, Hypotensi... |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Tricuspid regurgitation, Right ventricular failure, Hematochezia, Melena, Palpitations, Hypotensi... |
ORPHA:100082 |
| Hydroxykynureninuria |
|
Tachycardia, Hypotension |
ORPHA:79155 |
| Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, ... |
ORPHA:98850 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypoproteinemia, Hypocalcemia |
OMIM:235255 |
| Brucellosis |
|
Pericarditis, Transient ischemic attack, Hypersplenism, Myocarditis, Leukocytosis, Thrombocytopen... |
ORPHA:1304 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Hypoalbuminemia |
OMIM:614441 |
| Johanson-Blizzard Syndrome |
|
Hypoproteinemia |
ORPHA:2315 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hypotension |
OMIM:203400 |
| Systemic Capillary Leak Syndrome |
|
Myocarditis, Pericarditis, Arrhythmia, Hypotension |
ORPHA:188 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Congestive heart failure, Cranial nerve compression, Abnormal moto... |
ORPHA:52430 |
| Post-Traumatic Pituitary Deficiency |
|
Hypotension |
ORPHA:95619 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
| Periventricular Nodular Heterotopia 1 |
|
Gray matter heterotopia, Abnormality of neuronal migration, Cerebral hemorrhage |
OMIM:300049 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hypoalbuminemia, Elevated circulating C-reactive protein concentration |
OMIM:308240 |
| Familial Hypoaldosteronism |
|
Orthostatic hypotension, Hypovolemia, Hypotension |
ORPHA:427 |
| Bronchial Neuroendocrine Tumor |
|
Tricuspid regurgitation, Right ventricular failure, Palpitations, Facial telangiectasia, Hypotens... |
ORPHA:97287 |
| Mercury Poisoning |
|
Hypertension, Tachycardia, Hypotension |
ORPHA:330021 |
| Infant Botulism |
|
Hypertension, Cardiac arrest, Hypotension |
ORPHA:178478 |
| Pde4D Haploinsufficiency Syndrome |
|
Hypotension |
ORPHA:439822 |
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105500 |
| Relapsing Fever |
|
Tachycardia, Neutrophilia, Epistaxis, Thrombocytopenia, Leukocytosis, Leukopenia, Hypotension, An... |
ORPHA:91547 |
| Aa Amyloidosis |
|
Hypotension |
ORPHA:85445 |
| Chédiak-Higashi Syndrome |
|
Hyponatremia, Abnormality of retinal pigmentation, Hypertriglyceridemia, Tremor, Increased circul... |
ORPHA:167 |
| Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Bradycardia, Optic atrophy, Abnormal autonomic nervous system physiology |
OMIM:614498 |
| Omenn Syndrome |
|
Hypoproteinemia |
OMIM:603554 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... |
ORPHA:88618 |
| Mpi-Cdg |
|
Hypoalbuminemia |
ORPHA:79319 |
| Eosinophilic Gastroenteritis |
|
Hypoalbuminemia, Elevated circulating C-reactive protein concentration |
ORPHA:2070 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Pachygyria, Abnormality of neuronal migration, Cardiomyopathy, Arrhythmia, Polymicrogyria, Agenes... |
ORPHA:157 |
| Scrub Typhus |
|
Myocarditis, Hypotension |
ORPHA:83317 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hypoproteinemia, Elevated circulating creatine kinase concentration |
OMIM:615895 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hypotension |
OMIM:177735 |
| Inhalational Anthrax |
|
Internal hemorrhage, Hypotension |
ORPHA:247257 |
| Leber Congenital Amaurosis |
|
Abnormal optic disc morphology, Abnormality of neuronal migration |
ORPHA:65 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... |
OMIM:261740 |
| Wolfram Syndrome, Mitochondrial Form |
|
Optic atrophy, Abnormal autonomic nervous system physiology |
OMIM:598500 |
| Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Hypotension |
ORPHA:79456 |
| Acute Panmyelosis With Myelofibrosis |
|
Myelofibrosis, Low back pain |
ORPHA:86843 |
| Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir... |
ORPHA:158061 |
| Proximal Myotonic Myopathy |
|
Myotonia |
ORPHA:606 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Hypoalbuminemia |
OMIM:608104 |
| Whipple Disease |
|
Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Myocarditis, Hypotension |
ORPHA:3452 |
| Alexander Disease Type Ii |
|
Cervical spinal cord atrophy, Abnormal autonomic nervous system physiology |
ORPHA:363722 |
| Legionnaires Disease |
|
Myocarditis, Pericarditis, Arrhythmia, Hypotension |
ORPHA:549 |
| Desmosterolosis |
|
Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph... |
ORPHA:35107 |
| Leishmaniasis |
|
Hypoalbuminemia |
ORPHA:507 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiomyopathy, Arrhythmia, Ventricular tachycardia, Hypotension |
ORPHA:159 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Abnormality of neuronal migration |
ORPHA:2204 |
| Myotonia, Potassium-Aggravated |
|
Percussion myotonia, Handgrip myotonia, Myotonia |
OMIM:608390 |
| Normokalemic Periodic Paralysis |
|
Percussion myotonia |
OMIM:170600 |
| Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Facial palsy, Congestive heart fa... |
ORPHA:31826 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypoproteinemia, Hypocalcemia |
ORPHA:1655 |
| Thomsen And Becker Disease |
|
Myotonia |
ORPHA:614 |
| Necrotizing Enterocolitis |
|
Shock, Bradycardia, Hypotension |
ORPHA:391673 |
| Staphylococcal Necrotizing Pneumonia |
|
Shock, Hypotension |
ORPHA:36238 |
| Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Autonomic bladder dysfunction, Autonomic erectile dysfunction, Orthostatic hypotension due to aut... |
OMIM:169500 |
| Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Aganglionic megacolon, Abnormal autonomic nervous system physiology |
OMIM:243180 |
| Immunodeficiency 32B |
|
Hypoalbuminemia |
OMIM:226990 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:656 |
| Myopathy, Granulovacuolar Lobular, With Electrical Myotonia |
|
Myotonia |
OMIM:254950 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Hypoalbuminemia, Postural tremor, Action tremor, Intention tremor |
OMIM:254900 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Degeneration of the lateral corticospinal tracts, Abnorma... |
ORPHA:275872 |
| Congenital Enterovirus Infection |
|
Myocarditis, Cardiomyopathy, Hypotension |
ORPHA:292 |
| Fragile X-Associated Tremor/Ataxia Syndrome |
|
Hypertension, Abnormal autonomic nervous system physiology, Hypotension |
ORPHA:93256 |
| Fabry Disease |
|
Angina pectoris, Transient ischemic attack, Myocardial infarction, Congestive heart failure, Hype... |
OMIM:301500 |
| Congenital Isolated Acth Deficiency |
|
Hypotension |
ORPHA:199296 |
| Myopathy, X-Linked, With Excessive Autophagy |
|
Myotonia, Flexion contracture, Scoliosis |
OMIM:310440 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Eosinophilia, Splenomegaly,... |
ORPHA:98849 |
| Tetrasomy 18P |
|
Syncope, Abnormality of neuronal migration |
ORPHA:3307 |
| Hennekam-Beemer Syndrome |
|
Telangiectasia of the skin, Arrhythmia, Optic atrophy, Hypotension |
ORPHA:2135 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Shoulder flexion contracture, Short nec... |
OMIM:255800 |
| Neuroendocrine Tumor Of Stomach |
|
Tricuspid regurgitation, Right ventricular failure, Hematemesis, Melena, Palpitations, Hypotensio... |
ORPHA:100075 |
| Erythermalgia, Primary |
|
Palpitations, Abnormal autonomic nervous system physiology |
OMIM:133020 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Chorioretinal hyperpigmentation, Hyperalaninemia, Optic atrophy, Hypoalbuminemia |
OMIM:618329 |
| Hypokalemic Periodic Paralysis |
|
Impaired myocardial contractility, Myotonia |
ORPHA:681 |
| Acute Radiation Syndrome |
|
Telangiectasia, Granulocytopenia, Hypotension, Lymphopenia, Thrombocytopenia |
ORPHA:454831 |
| Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... |
ORPHA:90068 |
| Liver Failure, Infantile, Transient |
|
Hypoalbuminemia, Hyperbilirubinemia |
OMIM:613070 |
| Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
| Periventricular Nodular Heterotopia 7 |
|
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria, Optic disc pallor |
OMIM:617201 |
| Reni Syndrome |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:617575 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Heart block, Pachygyria, Abnormality of neuronal migration, Cardiomyopathy, Arrhythmia, Polymicro... |
ORPHA:228308 |
| Primary Lateral Sclerosis |
|
Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy,... |
ORPHA:35689 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hypovolemia, Agenesis of corpus callosum, Hypotension |
ORPHA:168558 |
| Al Amyloidosis |
|
Gastrointestinal hemorrhage, Abnormal EKG, Jaw claudication, Reduced left ventricular ejection fr... |
ORPHA:85443 |
| Colchicine Poisoning |
|
Myocarditis, Congestive heart failure, Hypovolemia, Hypotension, Cardiogenic shock, Arrhythmia |
ORPHA:31824 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hypovolemia, Agenesis of corpus callosum, Hypotension |
ORPHA:289548 |
| Posttransplant Acute Limbic Encephalitis |
|
Abnormal autonomic nervous system physiology |
ORPHA:163921 |
| Interstitial Lung And Liver Disease |
|
Thrombocytosis, Anemia |
OMIM:615486 |
| Congenital Disorder Of Deglycosylation 2 |
|
Gray matter heterotopia, Partial agenesis of the corpus callosum, Polymicrogyria |
OMIM:619775 |
| Autosomal Recessive Axonal Neuropathy With Neuromyotonia |
|
Handgrip myotonia, Thoracic scoliosis, Myotonia, Camptodactyly of finger, Achilles tendon contrac... |
ORPHA:324442 |
| Renal Tubular Dysgenesis |
|
Hypotension |
OMIM:267430 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypoalbuminemia |
OMIM:617021 |
| Castleman Disease |
|
Myelofibrosis, Restrictive cardiomyopathy |
ORPHA:160 |
| Bacterial Toxic-Shock Syndrome |
|
Shock, Tachycardia, Myocarditis, Capillary leak, Hypotension |
ORPHA:36234 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Lateral ventricle dilatation, Periventricular heterotopia |
OMIM:614105 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hypoalbuminemia |
OMIM:602579 |
| Myotonic Dystrophy 1 |
|
Myotonia, Atrial flutter, Atrial fibrillation, First degree atrioventricular block |
OMIM:160900 |
| Aicardi-Goutieres Syndrome 9 |
|
Optic atrophy, Chorioretinal atrophy, Hypoalbuminemia, Dystonia |
OMIM:619487 |
| Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Myotonia, Anemia |
ORPHA:371 |
| Congenital-Onset Steinert Myotonic Dystrophy |
|
Bundle branch block, Myotonia, First degree atrioventricular block, Patent ductus arteriosus, Sco... |
ORPHA:589821 |
| Muscular Dystrophy, Barnes Type |
|
Myotonia |
OMIM:158800 |
| Generalized Pustular Psoriasis |
|
Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration |
ORPHA:247353 |
| Late-Onset Isolated Acth Deficiency |
|
Orthostatic hypotension, Hypotension |
ORPHA:199299 |
| Ileal Neuroendocrine Tumor |
|
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Palpitations, Hypotension, Pul... |
ORPHA:100078 |
| Avian Influenza |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated circulating C-react... |
ORPHA:454836 |
| Machado-Joseph Disease |
|
Spinocerebellar tract degeneration, Abnormal autonomic nervous system physiology |
OMIM:109150 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced natural killer cell count, Decreas... |
OMIM:301074 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia |
ORPHA:1667 |
| Lujo Hemorrhagic Fever |
|
Shock, Myocarditis, Subconjunctival hemorrhage, Bradycardia, Hypotension |
ORPHA:319213 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Aortic regurgitation, Myelofibrosis, Joint laxity, Short neck, Pulmonic stenosis, Hypertrophic ca... |
OMIM:607721 |
| Neonatal Adrenoleukodystrophy |
|
Optic atrophy, Abnormality of neuronal migration |
ORPHA:44 |
| Hepatoportal Sclerosis |
|
Hypoalbuminemia, Hyperbilirubinemia |
ORPHA:64743 |
| Inherited Creutzfeldt-Jakob Disease |
|
Vestibular nystagmus, Abnormal autonomic nervous system physiology |
ORPHA:282166 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hyperammonemia |
OMIM:617093 |
| Caribbean Parkinsonism |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Autonomic bladder dysfunction |
ORPHA:97355 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia |
ORPHA:540 |
| Abetalipoproteinemia |
|
Abnormality of retinal pigmentation, Decreased HDL cholesterol concentration, Decreased LDL chole... |
ORPHA:14 |
| Myotonia Permanens |
|
Myotonia, Limitation of joint mobility, Hyperlordosis |
ORPHA:99735 |
| Sepsis In Premature Infants |
|
Tachycardia, Bradycardia, Hypotension |
ORPHA:90051 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Chorioretinal hypopigmentation, Optic atrophy, Hypoalbuminemia |
OMIM:617303 |
| Episodic Ataxia Type 1 |
|
Kyphoscoliosis, Myotonia, Scoliosis |
ORPHA:37612 |
| Neurocutaneous Melanocytosis |
|
Intracranial hemorrhage, Syringomyelia, Abnormality of neuronal migration |
ORPHA:2481 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Dilated cardiomyopathy, Abnormality of neuronal migration, Arrhythmia, Polymicrogyria, Agenesis o... |
OMIM:608836 |
| Hemorrhagic Fever-Renal Syndrome |
|
Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Hypertension... |
ORPHA:340 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Tricuspid regurgitation, Agenesis of corpus callosum, Periventricular heterotopia |
OMIM:618929 |
| Myotonic Dystrophy 2 |
|
Handgrip myotonia, Tachycardia, Myotonia, Premature ventricular contraction, Right bundle branch ... |
OMIM:602668 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Abnormal autonomic nervous system physiology, Orthostatic hypotension due to auto... |
OMIM:105210 |
| Acute Adrenal Insufficiency |
|
Hypotension, Orthostatic hypotension, Hypovolemia, Myocardial infarction |
ORPHA:95409 |
| Neuromuscular Oculoauditory Syndrome |
|
Decreased nerve conduction velocity, Decreased amplitude of sensory action potentials, Agenesis o... |
OMIM:618733 |
| Xfe Progeroid Syndrome |
|
Optic atrophy, Hypoalbuminemia, Attenuation of retinal blood vessels |
OMIM:610965 |
| Cholera |
|
Hypovolemic shock, Tachycardia, Hypotension |
ORPHA:173 |
| Autosomal Dominant Hypocalcemia |
|
Congestive heart failure, Arrhythmia, Optic atrophy, Hypotension |
ORPHA:428 |
| Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Simplified gyral pattern, Periventricular heterotopia |
OMIM:618273 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Hypotension |
OMIM:608643 |
| Hyperkalemic Periodic Paralysis |
|
Myotonia, Congestive heart failure, Arrhythmia, Flexion contracture |
ORPHA:682 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Abnormality of neuronal migration |
ORPHA:2772 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hypoalbuminemia |
ORPHA:367 |
| Pituitary Apoplexy |
|
Hypertension, Hypotension |
ORPHA:95613 |
| Familial Glucocorticoid Deficiency |
|
Hypertrophic cardiomyopathy, Hypotension |
ORPHA:361 |
| Hypomelanosis Of Ito |
|
Gray matter heterotopia |
OMIM:300337 |
| Infantile Neuroaxonal Dystrophy |
|
Optic atrophy, Abnormal autonomic nervous system physiology, Abnormality of peripheral nerve cond... |
ORPHA:35069 |
| Hyperkalemic Periodic Paralysis |
|
Myotonia |
OMIM:170500 |
| Wilson Disease |
|
Limb dystonia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Tremor, Hand trem... |
OMIM:277900 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Colpocephaly, Optic atrophy, Periventricular heterotopia |
OMIM:619833 |
| Non-Functioning Pituitary Adenoma |
|
Hypotension |
ORPHA:91349 |
| Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Decreased nerve conduction... |
OMIM:606070 |
| Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Tachycardia, Epistaxis, Diffuse alveolar hemorrhage, Hematemesis, Myocarditi... |
ORPHA:99827 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Myelofibrosis |
OMIM:301078 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Thrombocytosis, Leukocytosis, Hypochromic anemia |
OMIM:618213 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hyperbilirubinemia |
OMIM:251880 |
| Cerebrofacioarticular Syndrome |
|
Gray matter heterotopia, Dysplastic corpus callosum, Agenesis of corpus callosum, Pulmonic stenosis |
ORPHA:314679 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Gray matter heterotopia |
OMIM:619694 |
| Gitelman Syndrome |
|
Prolonged QT interval, Ventricular tachycardia, Palpitations, Hypotension |
OMIM:263800 |
| Indifference To Pain, Congenital, Autosomal Recessive |
|
Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology |
OMIM:243000 |
| Achalasia-Addisonianism-Alacrima Syndrome |
|
Orthostatic hypotension, Optic atrophy, Abnormal autonomic nervous system physiology |
OMIM:231550 |
| Radio-Tartaglia Syndrome |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:619312 |
| Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Myotonia, Joint stiffness |
ORPHA:209335 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, Abnormal auditory evoked potentials, Atrophy of the spinal cord, Abnorma... |
ORPHA:99027 |
| 16P13.11 Microdeletion Syndrome |
|
Agenesis of corpus callosum, Abnormality of neuronal migration |
ORPHA:261236 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Kyphoscoliosis, Myotonia, Scoliosis |
ORPHA:391307 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hypotension |
ORPHA:90791 |
| Porphyria Variegata |
|
Hypertension, Tachycardia, Abnormal autonomic nervous system physiology |
ORPHA:79473 |
| Leukodystrophy, Hypomyelinating, 12 |
|
Optic atrophy, Abnormal autonomic nervous system physiology |
OMIM:616683 |
| Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Optic atrophy, Abnormal autonomic nervous system physiology |
ORPHA:466934 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru... |
OMIM:617156 |
| Hypokalemic Periodic Paralysis, Type 1 |
|
Myotonia |
OMIM:170400 |
| Cerebral Palsy, Spastic Quadriplegic, 3 |
|
Gray matter heterotopia |
OMIM:617008 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Hypertension, Hypotension |
OMIM:174000 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Abnormal autonomic nervous system physiology |
OMIM:300894 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Cerebral vasculitis, Abnormal autonomic nervous system physiology |
ORPHA:83601 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous system physiology |
OMIM:256800 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia, Hypoalbuminemia |
OMIM:615508 |
| 16Q24.3 Microdeletion Syndrome |
|
Optic nerve hypoplasia, Periventricular heterotopia, Dilated cardiomyopathy, Mitral regurgitation... |
ORPHA:261250 |
| Edinburgh Malformation Syndrome |
|
Abnormality of neuronal migration |
ORPHA:1895 |
| Juvenile Polyposis Syndrome |
|
Hypokalemia, Hypoalbuminemia |
OMIM:174900 |
| Galloway-Mowat Syndrome 1 |
|
Optic atrophy, Hypoalbuminemia, Dystonia |
OMIM:251300 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Septo-optic dysplasia, Agenesis of corpus callosum, Optic nerve hypoplasia, Hypotension |
ORPHA:95494 |
| Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Optic atrophy, Autonomic bladder dysfunction |
ORPHA:447896 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Optic atrophy, Agenesis of corpus callosum, Periventricular heterotopia |
OMIM:618476 |
| Alg12-Cdg |
|
Hyponatremia, Retinal detachment, Hypoalbuminemia, Hypocholesterolemia |
ORPHA:79324 |
| Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Decreased distal sensory nerve action potential, Abnormal autonomic nervous system physiology |
OMIM:614575 |
| Prolactinoma |
|
Hypotension |
ORPHA:2965 |
| Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Syncope, Tachycardia, Abnormal autonomic nervous system physiology |
ORPHA:71273 |
| Hellp Syndrome |
|
Cerebral hemorrhage, Internal hemorrhage, Hypotension |
ORPHA:244242 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Decreased serum iron, Decreased serum zinc, Hypoalbuminemia, Decreased circulating carnitine conc... |
ORPHA:89842 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:619055 |
| Aicardi Syndrome |
|
Spina bifida, Partial agenesis of the corpus callosum, Optic disc coloboma, Optic atrophy, Gray m... |
OMIM:304050 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Abnormality of neuronal migration |
OMIM:300957 |
| Melkersson-Rosenthal Syndrome |
|
Abnormal autonomic nervous system physiology, Facial palsy |
ORPHA:2483 |
| Boucher-Neuhauser Syndrome |
|
Abnormal upper motor neuron morphology |
OMIM:215470 |
| Poretti-Boltshauser Syndrome |
|
Gray matter heterotopia |
OMIM:615960 |
| Thanatophoric Dysplasia Type 2 |
|
Abnormality of neuronal migration |
ORPHA:93274 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Gray matter heterotopia, Syringomyelia, Abnormal autonomic nervous system physiology |
ORPHA:453499 |
| Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Congestive heart failure, Hypertension, Palpitations, Hypotension, V... |
ORPHA:91347 |
| Acetazolamide-Responsive Myotonia |
|
Myotonia |
ORPHA:99736 |
| Joubert Syndrome 30 |
|
Gray matter heterotopia |
OMIM:617622 |
| Periventricular Nodular Heterotopia |
|
Aortic regurgitation, Periventricular heterotopia |
ORPHA:98892 |
| Haddad Syndrome |
|
Aganglionic megacolon, Abnormal autonomic nervous system physiology |
ORPHA:99803 |
| Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Periventricular heterotopia |
OMIM:618974 |
| Neu-Laxova Syndrome |
|
Abnormal cortical gyration, Spina bifida, Pachygyria, Abnormality of neuronal migration, Macrogyr... |
ORPHA:2671 |
| Trisomy 20P |
|
Abnormal autonomic nervous system physiology, Spina bifida |
ORPHA:261318 |
| 9Q21.13 Microdeletion Syndrome |
|
Gray matter heterotopia, Syringomyelia |
ORPHA:531151 |
| Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Optic atrophy, Abnormality of neuronal migration |
ORPHA:2518 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Abnormal blood ion concentration, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased prealb... |
ORPHA:37042 |
| Hereditary Angioedema Type 1 |
|
Hypotension |
ORPHA:100050 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Hypoalbuminemia |
ORPHA:67 |
| Liver Disease, Severe Congenital |
|
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... |
OMIM:619991 |
| 3C Syndrome |
|
Aortic valve stenosis, Optic atrophy, Abnormality of neuronal migration, Pulmonic stenosis |
ORPHA:7 |
| Neuroendocrine Neoplasm Of Appendix |
|
Palpitations, Heart murmur, Tricuspid stenosis, Hypotension |
ORPHA:100079 |
| Fatal Familial Insomnia |
|
Abnormal autonomic nervous system physiology |
OMIM:600072 |
| Bartter Syndrome, Type 3 |
|
Hypotension |
OMIM:607364 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
| Schwartz-Jampel Syndrome |
|
Hip contracture, Abnormally ossified vertebrae, Increased bone mineral density, Myotonia, Shoulde... |
ORPHA:800 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Optic nerve dysplasia, Gray matter heterotopia, Hydromyelia, Agenesis of corpus callosum, Type II... |
OMIM:615287 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph... |
ORPHA:2211 |
| Mismatch Repair Cancer Syndrome 1 |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:276300 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormality of retinal pigmentation, Optic atrophy, Hypoalbuminemia |
ORPHA:505248 |
| Primary Biliary Cholangitis |
|
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia |
ORPHA:186 |
| Acromelic Frontonasal Dysostosis |
|
Gray matter heterotopia, Periventricular nodular heterotopia, Agenesis of corpus callosum, Optic ... |
OMIM:603671 |
| Joubert Syndrome |
|
Polymicrogyria, Aganglionic megacolon, Abnormality of neuronal migration |
ORPHA:475 |
| 6Q Terminal Deletion Syndrome |
|
Periventricular heterotopia, Abnormality of neuronal migration, Gray matter heterotopia, Colpocep... |
ORPHA:75857 |
| Stuve-Wiedemann Syndrome 1 |
|
Myotonia, Ovoid vertebral bodies, Short neck, Osteoporosis, Pathologic fracture, Elbow flexion co... |
OMIM:601559 |
| Addison Disease |
|
Orthostatic hypotension, Hypotension |
ORPHA:85138 |
| Marburg Hemorrhagic Fever |
|
Shock, Tachycardia, Pericarditis, Hypovolemia, Capillary leak, Subconjunctival hemorrhage, Bradyc... |
ORPHA:99826 |
| Doors Syndrome |
|
Thrombocytosis, Spina bifida occulta |
ORPHA:79500 |
| Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Abnormal autonomic nervous system physiology |
OMIM:617903 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hypotension |
ORPHA:293978 |
| Lysosomal Acid Lipase Deficiency |
|
Pulmonary arterial hypertension, Hypovolemia, Hypotension |
ORPHA:275761 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Hypoalbuminemia |
OMIM:235510 |
| Thanatophoric Dysplasia |
|
Gray matter heterotopia |
ORPHA:2655 |
| Multiple System Atrophy 1, Susceptibility To |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology |
OMIM:146500 |
| Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, ST segment depression, Hypotension, Abnormal T-wave, Abnormal pulse pressu... |
ORPHA:466650 |
| Galloway-Mowat Syndrome 3 |
|
Hypoalbuminemia |
OMIM:617729 |
| Bohring-Opitz Syndrome |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:605039 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
| Fragile X Syndrome |
|
Periventricular heterotopia |
OMIM:300624 |
| Secondary Intestinal Lymphangiectasia |
|
Reduced circulating transferrin concentration, Decreased prealbumin level, Hypoalbuminemia, Hypoc... |
ORPHA:90363 |
| Episodic Ataxia, Type 2 |
|
Myotonia |
OMIM:108500 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Optic disc pallor, Optic nerve hypoplasia, Periventricular heterotopia, Pachygyria, Simplified gy... |
ORPHA:468631 |
| Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Leukocytosis, Abnormality of neutrophil physiology, Impaired neutrophil c... |
ORPHA:2968 |
| Combined Oxidative Phosphorylation Defect Type 29 |
|
Abnormal autonomic nervous system physiology, Optic neuropathy |
ORPHA:478029 |
| Gitelman Syndrome |
|
Prolonged QT interval, Raynaud phenomenon, Low-to-normal blood pressure, Syncope, ST segment depr... |
ORPHA:358 |
| Lethal Congenital Contracture Syndrome 1 |
|
Paucity of anterior horn motor neurons |
OMIM:253310 |
| Alternating Hemiplegia Of Childhood |
|
Cardiac conduction abnormality, Cardiomyopathy, Abnormal autonomic nervous system physiology, Abn... |
ORPHA:2131 |
| Joubert Syndrome With Oculorenal Defect |
|
Aganglionic megacolon, Abnormality of neuronal migration |
ORPHA:2318 |
| Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... |
OMIM:205100 |
| Lambert-Eaton Myasthenic Syndrome |
|
Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomic dysfunction |
ORPHA:43393 |
| Insulin-Resistance Syndrome Type B |
|
Abnormal circulating fatty-acid concentration, Abnormal circulating lipid concentration, Hypotrig... |
ORPHA:2298 |
| Holoprosencephaly 14 |
|
Gray matter heterotopia, Partial agenesis of the corpus callosum, Periventricular heterotopia |
OMIM:619895 |
| Young-Onset Parkinson Disease |
|
Abnormal autonomic nervous system physiology |
ORPHA:2828 |
| Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Abnormal autonomic nervous system physiology |
OMIM:616840 |
| Tick-Borne Encephalitis |
|
Facial palsy, Abnormal glossopharyngeal nerve morphology, Abnormal autonomic nervous system physi... |
ORPHA:297 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Abnormal autonomic nervous system physiology, Abnormal cranial nerve morphology |
ORPHA:247234 |
| Acute Transverse Myelitis |
|
Orthostatic hypotension, Subarachnoid hemorrhage, Hypertension, Abnormal autonomic nervous system... |
ORPHA:139417 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Dysplastic corpus callosum, Gray matter heterotopia, Colpocephaly, Polymicrogyria, Agenesis of co... |
OMIM:618820 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Abnormality of neuronal migration, Abnormal neuron morphology |
ORPHA:163681 |
| Spastic Paraplegia 79B, Autosomal Recessive |
|
Myotonia, Flexion contracture |
OMIM:615491 |
| Van Maldergem Syndrome 1 |
|
Subcortical band heterotopia, Simplified gyral pattern, Gray matter heterotopia, Periventricular ... |
OMIM:601390 |
| Central Hypoventilation Syndrome, Congenital, 1 |
|
Aganglionic megacolon, Abnormal autonomic nervous system physiology, Decreased heart rate variabi... |
OMIM:209880 |
| Vici Syndrome |
|
Congestive heart failure, Dilated cardiomyopathy, Gray matter heterotopia, Cardiomyopathy, Agenes... |
OMIM:242840 |
| Parkinson Disease, Late-Onset |
|
Abnormal autonomic nervous system physiology |
OMIM:168600 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Gray matter heterotopia, Arrhythmia, Congestive heart failure, Cardiomyopathy |
ORPHA:26791 |
| Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormality of neuronal migration |
ORPHA:2063 |
| Man1B1-Cdg |
|
Periventricular heterotopia |
ORPHA:397941 |
| Orofaciodigital Syndrome I |
|
Gray matter heterotopia, Agenesis of corpus callosum, Abnormal cortical gyration, Hypertension |
OMIM:311200 |
| Rett Syndrome |
|
Abnormal autonomic nervous system physiology |
ORPHA:778 |
| Coffin-Lowry Syndrome |
|
Optic atrophy, Abnormality of neuronal migration |
ORPHA:192 |
| Galloway-Mowat Syndrome |
|
Pachygyria, Abnormality of neuronal migration |
ORPHA:2065 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Hypoalbuminemia |
ORPHA:79396 |
| Ramos-Arroyo Syndrome |
|
Aganglionic megacolon, Abnormal autonomic nervous system physiology |
ORPHA:1051 |
| Joubert Syndrome With Hepatic Defect |
|
Optic disc coloboma, Abnormality of neuronal migration, Portal hypertension |
ORPHA:1454 |
| Acute Liver Failure |
|
Intracranial hemorrhage, Shock, Gastrointestinal hemorrhage, Hypotension |
ORPHA:90062 |
| Alkuraya-Kucinskas Syndrome |
|
Gray matter heterotopia, Lissencephaly |
OMIM:617822 |
| Opitz-Kaveggia Syndrome |
|
Gray matter heterotopia, Partial agenesis of the corpus callosum |
OMIM:305450 |
| Parkinsonian-Pyramidal Syndrome |
|
Abnormal autonomic nervous system physiology |
ORPHA:171695 |
| Idiopathic Camptocormia |
|
Amyotrophic lateral sclerosis, Myotonia |
ORPHA:1320 |
| Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Cardiomyopathy, Optic atrophy, Abnormal autonomic nervous system phy... |
ORPHA:3463 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Tricuspid regurgitation, Periventricular heterotopia |
OMIM:618870 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Abnormal cortical gyration, Partial agenesis of the corpus callosum, Microlissencephaly, Gray mat... |
OMIM:210710 |
| Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Gray matter heterotopia, Polymicrogyria |
OMIM:614887 |
| Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Myotonia, Shortened PR interval, Impaired myocardial contractility, Second... |
ORPHA:79102 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Shock, Hypovolemia, Hypotension |
ORPHA:90794 |
| Nmda Receptor Encephalitis |
|
Orthostatic tachycardia, Abnormal sudomotor regulation, Abnormal autonomic nervous system physiol... |
ORPHA:217253 |
| Thanatophoric Dysplasia, Type I |
|
Gray matter heterotopia |
OMIM:187600 |
| Juvenile Polyposis Of Infancy |
|
Hypoalbuminemia |
ORPHA:79076 |
| Alg11-Cdg |
|
Gray matter heterotopia |
ORPHA:280071 |
| Pagod Syndrome |
|
Sudden cardiac death, Spina bifida, Optic atrophy, Abnormality of neuronal migration, Arrhythmia |
ORPHA:991 |
| Holoprosencephaly |
|
Optic atrophy, Spinal cord tumor, Abnormality of neuronal migration, Spinal dysraphism, Arrhythmia |
ORPHA:2162 |
| Thanatophoric Dysplasia Type 1 |
|
Gray matter heterotopia |
ORPHA:1860 |
| Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Gray matter heterotopia |
OMIM:618797 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia |
OMIM:613658 |
| Plague |
|
Hematemesis, Tachycardia, Arrhythmia, Hypotension |
ORPHA:707 |
| Miller-Dieker Lissencephaly Syndrome |
|
Gray matter heterotopia, Pachygyria, Lissencephaly, Agyria |
OMIM:247200 |
| Juvenile Polyposis Syndrome |
|
Hypoproteinemia |
ORPHA:2929 |
| Choreoacanthocytosis |
|
Lateral ventricle dilatation, Dilated cardiomyopathy, Abnormal autonomic nervous system physiolog... |
ORPHA:2388 |
| Van Maldergem Syndrome 2 |
|
Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia |
OMIM:615546 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Gray matter heterotopia, Polymicrogyria, Optic disc pallor |
OMIM:214100 |
| Spastic Paraplegia 9A, Autosomal Dominant |
|
Abnormal upper motor neuron morphology |
OMIM:601162 |
| Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Gray matter heterotopia |
OMIM:608624 |
| Primary Sclerosing Cholangitis |
|
Hypoalbuminemia |
ORPHA:171 |
| Orofaciodigital Syndrome Xvi |
|
Gray matter heterotopia |
OMIM:617563 |
| Smith-Lemli-Opitz Syndrome |
|
Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentration, Hypocholesterolemia |
OMIM:270400 |
| Japanese Encephalitis |
|
Paucity of anterior horn motor neurons, Decreased motor nerve conduction velocity, Hyperintensity... |
ORPHA:79139 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Gray matter heterotopia, Agenesis of corpus callosum, Optic nerve hypoplasia |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Gray matter heterotopia, Agenesis of corpus callosum, Optic nerve hypoplasia |
ORPHA:352665 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Optic disc pallor, Aortic valve stenosis, Abnormality of neuronal migration |
ORPHA:464311 |
| Bilateral Perisylvian Polymicrogyria |
|
Facial diplegia, Perisylvian predominant thick cortex pachygyria, Abnormality of neuronal migrati... |
ORPHA:98889 |
| Koolen-De Vries Syndrome |
|
Gray matter heterotopia, Pulmonic stenosis |
OMIM:610443 |
| Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Gray matter heterotopia, Frontal polymicrogyria, Pachygyria |
OMIM:620024 |
| Non-Acquired Panhypopituitarism |
|
Hypotension |
ORPHA:90695 |
| Orofaciodigital Syndrome Type 6 |
|
Abnormality of neuronal migration |
ORPHA:2754 |
| Orofaciodigital Syndrome Xiv |
|
Periventricular heterotopia, Partial agenesis of the corpus callosum, Optic disc coloboma, Simpli... |
OMIM:615948 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Hypernatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration |
OMIM:619381 |
| African Trypanosomiasis |
|
Abnormal EKG, Pericarditis, Myocarditis, Congestive heart failure, Splenomegaly, Myelopathy, Narc... |
ORPHA:3385 |
| Narcolepsy 3 |
|
Narcolepsy |
OMIM:609039 |
| Narcolepsy 1 |
|
Narcolepsy |
OMIM:161400 |
| Bartter Syndrome, Type 1, Antenatal |
|
Low-to-normal blood pressure |
OMIM:601678 |
| Hydrolethalus Syndrome 1 |
|
Gray matter heterotopia, Agenesis of corpus callosum, Abnormal cortical gyration |
OMIM:236680 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Gray matter heterotopia |
OMIM:219730 |
| Bartter Syndrome, Type 2, Antenatal |
|
Low-to-normal blood pressure |
OMIM:241200 |
| Leprosy |
|
Epistaxis, Abnormality of the seventh cranial nerve, Abnormal autonomic nervous system physiology |
ORPHA:548 |
| Narcolepsy 7 |
|
Narcolepsy |
OMIM:614250 |
| Arima Syndrome |
|
Gray matter heterotopia, Optic atrophy, Hypertension |
OMIM:243910 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Hypoalbuminemia |
OMIM:614748 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating... |
OMIM:619534 |
| Periventricular Nodular Heterotopia 9 |
|
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria |
OMIM:618918 |
| Orofaciodigital Syndrome Type 14 |
|
Partial agenesis of the corpus callosum, Periventricular heterotopia |
ORPHA:434179 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Abnormal autonomic nervous system physiology |
ORPHA:293987 |
| Genitopatellar Syndrome |
|
Colpocephaly, Pachygyria, Agenesis of corpus callosum, Periventricular heterotopia |
OMIM:606170 |
| Stüve-Wiedemann Syndrome |
|
Abnormal autonomic nervous system physiology |
ORPHA:3206 |
| Nijmegen Breakage Syndrome |
|
Abnormality of neuronal migration |
ORPHA:647 |
| Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Narcolepsy |
OMIM:604121 |
| Tropical Endomyocardial Fibrosis |
|
Hypoalbuminemia |
ORPHA:75565 |
| Fontaine Progeroid Syndrome |
|
Gray matter heterotopia, Tricuspid regurgitation, Pulmonary arterial hypertension, Periventricula... |
OMIM:612289 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Abnormality of neuronal migration |
ORPHA:3186 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Narcolepsy |
ORPHA:314404 |
| Niemann-Pick Disease Type C |
|
Splenomegaly, Narcolepsy, Bone-marrow foam cells, Hepatosplenomegaly |
ORPHA:646 |
| Pmm2-Cdg |
|
Photoreceptor layer loss on macular OCT, Rod-cone dystrophy, Hypoalbuminemia, Reduced thyroxin-bi... |
ORPHA:79318 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Aganglionic megacolon, Periventricular heterotopia, Optic atrophy, Hyphema, Hypoplastic anterior ... |
ORPHA:261552 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Aganglionic megacolon, Periventricular heterotopia, Lateral ventricle dilatation, Pulmonic stenos... |
ORPHA:261537 |
| Proteus Syndrome |
|
Gray matter heterotopia, Sudden cardiac death, Pulmonary embolism |
ORPHA:744 |
| Mowat-Wilson Syndrome |
|
Aganglionic megacolon, Periventricular heterotopia, Pulmonic stenosis, Aortic valve stenosis, Pol... |
ORPHA:2152 |
