| Retinal Dysplasia, Primary |
|
Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
| Sub-Cortical Nodular Heterotopia |
|
Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal migration, Subcortical heter... |
ORPHA:101029 |
| Lissencephaly, X-Linked, 1 |
|
Gray matter heterotopia, Pachygyria, Agyria, Lissencephaly, Agenesis of corpus callosum |
OMIM:300067 |
| Chudley-Mccullough Syndrome |
|
Gray matter heterotopia, Polymicrogyria, Partial agenesis of the corpus callosum, Dysplastic corp... |
OMIM:604213 |
| Lissencephaly 3 |
|
Polymicrogyria, Gray matter heterotopia, Pachygyria, Agyria, Lissencephaly, Periventricular lamin... |
OMIM:611603 |
| Thrombocythemia 3 |
|
Ischemic stroke, Thrombocytosis |
OMIM:614521 |
| Polycythemia Vera |
|
Leukocytosis, Cerebral hemorrhage, Increased red blood cell mass, Splenomegaly, Thrombocytopenia,... |
OMIM:263300 |
| Mismatch Repair Cancer Syndrome 4 |
|
Agenesis of corpus callosum, Gray matter heterotopia |
OMIM:619101 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Neutr... |
ORPHA:75564 |
| Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Gray matter heterotopia, Pachygyria, Agyria, Lissencephaly, Subcortical band heterotopia |
OMIM:615411 |
| Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
| Lissencephaly 1 |
|
Gray matter heterotopia, Pachygyria, Agyria, Lissencephaly, Subcortical band heterotopia |
OMIM:607432 |
| Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A |
|
Abnormal autonomic nervous system physiology, Hypotension |
OMIM:156310 |
| Band Heterotopia |
|
Polymicrogyria, Lateral ventricle dilatation, Gray matter heterotopia, Agenesis of corpus callosu... |
OMIM:600348 |
| Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
| Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Retinal degeneration, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:617572 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Macular atrophy, Retinal atrophy, Retinal detachment, Peripheral cystoid retinal degeneration, Re... |
OMIM:312700 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Anemia, Neutropenia, Eosinophilia, Thrombocytosis, Monocytosis, Congeni... |
OMIM:202700 |
| Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
| Microlissencephaly |
|
Polymicrogyria, Simplified gyral pattern, Subcortical heterotopia, Pachygyria, Lissencephaly, Per... |
ORPHA:1083 |
| Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
| Exudative Vitreoretinopathy 3 |
|
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Hypoproteinemia, Chorioretinal coloboma |
ORPHA:1116 |
| Heme Oxygenase 1 Deficiency |
|
Diffuse alveolar hemorrhage, Asplenia, Hemolytic anemia, Hypertension, Thrombocytosis, Epistaxis,... |
OMIM:614034 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
| Immunodeficiency 69 |
|
Hepatosplenomegaly, Leukocytosis, Anemia, Pancytopenia, Thrombocytosis, Splenomegaly |
OMIM:618963 |
| X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Retinal dysplasia, Abnormality of retinal pigmentation |
ORPHA:1852 |
| Thrombocythemia 1 |
|
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thr... |
OMIM:187950 |
| Familial Drusen |
|
Reticular pigmentary degeneration, Macular hemorrhage, Macular atrophy, Peripapillary chorioretin... |
ORPHA:75376 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia |
OMIM:615863 |
| Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Agyria, Pachygyria, Gray matter heterotopia |
ORPHA:1084 |
| Obesity Due To Sim1 Deficiency |
|
Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous system physiology,... |
ORPHA:369873 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Colpocephaly, Polymicrogyria, Optic nerve hypoplasia, Dysplastic corpus callosum, Agenesis of cor... |
ORPHA:250972 |
| Thrombocytopenia 6 |
|
Osteoporosis, Spontaneous, recurrent epistaxis, Myelofibrosis |
OMIM:616937 |
| Nodular Neuronal Heterotopia |
|
Abnormality of neuronal migration |
ORPHA:2149 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia |
ORPHA:88643 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Polymicrogyria, Lateral ventricle dilatation, Gray matter heterotopia, Pachygyria, Lissencephaly,... |
ORPHA:300573 |
| Primary Myelofibrosis |
|
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Portal hypertension, Thro... |
ORPHA:824 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Anisocytosis, Leukopenia, Abnormal erythrocyte morphology, Macrocytic anemia, Abnormality of neut... |
ORPHA:86841 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Hypoproteinemia |
OMIM:207731 |
| 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 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Increased total bilirubin, Increased serum bile acid concentration... |
OMIM:619868 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Hypermethioninemia, Hypoalbuminemia |
OMIM:613752 |
| Autosomal Recessive Primary Microcephaly |
|
Agenesis of corpus callosum, Pachygyria, Gray matter heterotopia |
ORPHA:2512 |
| Hereditary Liability to Pressure Palsies (HNPP) |
|
Motor conduction block, Abnormal motor neuron morphology |
DECIPHER:31 |
| Juvenile Arthritis |
|
Leukocytosis, Thrombocytosis |
OMIM:618795 |
| Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
| Immunodeficiency 43 |
|
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia |
OMIM:241600 |
| Analbuminemia |
|
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypercho... |
OMIM:616000 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Partial agenesis of the corpus callosum, Simplified gyral pattern, Optic disc pallor, Optic atrop... |
OMIM:616171 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Hypertriglyceridemia, Hyperproteinemia, Increased circulating ferritin concentration |
ORPHA:158048 |
| Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Abnormal motor neuron morphology, Decreased motor nerve conduction velocity |
DECIPHER:29 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Hypersegmentation of neutrophil nuclei, Lymphopenia, Macrocytic anemia, Ane... |
OMIM:617780 |
| Multiple Myeloma |
|
Hyperproteinemia, Hypercalcemia, Elevated circulating creatinine concentration |
ORPHA:29073 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Leukocytosis, B lymphocytopenia, Thrombocytosis, Neutrophilia, Monocytosis |
OMIM:619281 |
| Sickle Cell Anemia |
|
Reticulocytosis, Leukocytosis, Hemolytic anemia, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Postural tremor, Elev... |
ORPHA:64753 |
| Chylomicron Retention Disease |
|
Hypotriglyceridemia, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypoalbuminemia |
OMIM:246700 |
| Gaisböck Syndrome |
|
Increased circulating renin level, Hyperuricemia, Hyperproteinemia, Hypertriglyceridemia, Hyperch... |
ORPHA:90041 |
| Lissencephaly 6 With Microcephaly |
|
Polymicrogyria, Partial agenesis of the corpus callosum, Microlissencephaly, Simplified gyral pat... |
OMIM:616212 |
| Asplenia, Isolated Congenital |
|
Howell-Jolly bodies, Asplenia, Thrombocytosis |
OMIM:271400 |
| Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia |
OMIM:152800 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Hepatosplenomegaly, Pancytopenia, Microcytic anemia, Thrombocytosis |
OMIM:604416 |
| Nephrotic Syndrome, Type 1 |
|
Hyperlipidemia, Hypoproteinemia, Hypoalbuminemia |
OMIM:256300 |
| Myxopapillary Ependymoma |
|
Autonomic bladder dysfunction, Abnormal conus terminalis morphology |
ORPHA:251643 |
| Immunodeficiency 27A |
|
Hepatosplenomegaly, Leukocytosis, Anemia, Histiocytosis, Thrombocytosis, Splenomegaly |
OMIM:209950 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
| Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Polymicrogyria, Simplified gyral pattern, Gray matter heterotopia, Pachygyria, Lissencephaly, Abn... |
OMIM:604317 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Anisopoikilocytosis, Reticulocytosis, Increased mean corpuscular hemoglobin concentration, Hemoly... |
OMIM:616689 |
| Glutathionuria |
|
Agenesis of corpus callosum, Gray matter heterotopia |
OMIM:231950 |
| Familial Thrombocytosis |
|
Pulmonary arterial hypertension, Syncope, Chronic myelogenous leukemia, Transient ischemic attack... |
ORPHA:71493 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Raynaud phenomenon, Leukopenia, Anemia, Lymphopenia, Telangiectasia, Thrombocytosis |
OMIM:615934 |
| Paramyotonia Congenita Of Von Eulenburg |
|
Myotonia of the upper limb, Handgrip myotonia, Myotonia of the jaw, Percussion myotonia, Myotonia... |
ORPHA:684 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Anemia, Pulmonary embolism, Thrombocytosis, Iron deficiency anemia, Budd-Chiari syndrome |
OMIM:226300 |
| Ataxia-Oculomotor Apraxia 4 |
|
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Dystonia, Hypoalbumin... |
OMIM:616267 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... |
ORPHA:103910 |
| Essential Thrombocythemia |
|
Myocardial infarction, Transient ischemic attack, Myelofibrosis |
ORPHA:3318 |
| Episodic Pain Syndrome, Familial, 3 |
|
Abnormal autonomic nervous system physiology |
OMIM:615552 |
| Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
| Myotonia Congenita, Autosomal Dominant |
|
Handgrip myotonia, Percussion myotonia, Myotonia, EMG: myotonic runs, Myotonia with warm-up pheno... |
OMIM:160800 |
| Subependymal Nodular Heterotopia |
|
Polymicrogyria, Abnormality of neuronal migration, Partial agenesis of the corpus callosum, Gray ... |
ORPHA:101030 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
| Congenital Analbuminemia |
|
Hypoproteinemia, Hyperlipidemia, Increased alpha-globulin, Hypercholesterolemia, Hypoalbuminemia |
ORPHA:86816 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
| Alg6-Cdg |
|
Decreased LDL cholesterol concentration, Hypoalbuminemia, Rod-cone dystrophy, Retinal degeneration |
ORPHA:79320 |
| Citrullinemia Type Ii |
|
Hypoproteinemia, Acute hyperammonemia, Elevated plasma citrulline, Tremor, Hyperlipidemia, Hypert... |
ORPHA:247585 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoproteinemia, Increased LDL cholesterol concentration, Increased total bilirubin, Hypertriglyc... |
OMIM:267700 |
| Leptospirosis |
|
Optic neuritis, Papilledema, Hyperproteinemia, Macular cotton wool spot, Chorioretinitis, Retinal... |
ORPHA:509 |
| Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia |
OMIM:260450 |
| Chronic Myeloid Leukemia |
|
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Abn... |
ORPHA:521 |
| Nephrotic Syndrome, Type 7 |
|
Hypoalbuminemia |
OMIM:615008 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Increased bone mineral density, Hyperostosis cranialis interna, Myelofibrosis |
OMIM:231095 |
| Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Abnormal autonomic nervous system physiology, Decreased motor nerve conduction velocity, Abnormal... |
ORPHA:139578 |
| Beta-Ketothiolase Deficiency |
|
Hypertension, Leukocytosis, Hypotension, Thrombocytosis |
ORPHA:134 |
| Chiari Malformation Type Ii |
|
Syringomyelia, Cervical myelopathy, Spina bifida, Gray matter heterotopia, Agenesis of corpus cal... |
OMIM:207950 |
| 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 |
| Myofibrillar Myopathy 10 |
|
Prolonged QTc interval, Percussion myotonia, Knee flexion contracture, Kyphosis, Flexion contract... |
OMIM:619040 |
| Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
| Symmetrical Thalamic Calcifications |
|
Arrhythmia, Abnormality of neuronal migration |
ORPHA:1314 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
| Retinitis Pigmentosa 13 |
|
Rod-cone dystrophy, Cystoid macular edema, Asteroid hyalosis, Retinal degeneration, Bone spicule ... |
OMIM:600059 |
| Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
| Orthostatic Intolerance |
|
Orthostatic tachycardia |
OMIM:604715 |
| Refractory Celiac Disease |
|
Hypoproteinemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Hypoalbuminemia |
ORPHA:398063 |
| Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia |
ORPHA:2494 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Microlissencephaly, 4-layered lissencephaly, Agenesis of corpus callosum, Abnormality of neuronal... |
ORPHA:89844 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Cardiac arrest, Leukocytosis, Leukopenia, Hypotension, Anemia, Dilated cardiomyopathy, Thrombocyt... |
ORPHA:20 |
| Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
| Autoerythrocyte Sensitization Syndrome |
|
Abnormal erythrocyte morphology, Autoimmune thrombocytopenia, Intracranial hemorrhage, Joint hemo... |
ORPHA:324636 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Elevated circulating creatine kinase concentration, Tremor, Hypercholesterolemia, Dystonia, Hypoa... |
OMIM:208920 |
| 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 |
|
Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutinin, Leukocytosi... |
OMIM:243150 |
| Dysautonomia-Like Disorder |
|
Abnormal autonomic nervous system physiology |
OMIM:224000 |
| Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatosplenomegaly, Raynaud phenomenon, Vasculitis, Leukocytosis, Leukopenia, Anemia, Hypertensio... |
OMIM:615688 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Type II lissencephaly, Optic atrophy, Dysgyria, Gray matter heterotopia |
ORPHA:352682 |
| Cardiomyopathy, Familial Restrictive, 3 |
|
Hypotension, Reduced left ventricular ejection fraction, Abnormal ST segment, Restrictive cardiom... |
OMIM:612422 |
| Cogan Syndrome |
|
Vasculitis, Leukocytosis, Anemia, Large vessel vasculitis, Aortic regurgitation, Thrombocytosis |
ORPHA:1467 |
| Neuroleptic Malignant Syndrome |
|
Leukocytosis, Hypotension, Arrhythmia, Hypertension, Pulmonary embolism, Thrombocytopenia, Thromb... |
ORPHA:94093 |
| Polycythemia Vera |
|
Hypertension, Pulmonary embolism, Intermittent claudication, Portal hypertension, Angina pectoris... |
ORPHA:729 |
| Romano-Ward Syndrome |
|
Prolonged QTc interval, Abnormal T-wave, Torsade de pointes, Syncope, Abnormal autonomic nervous ... |
ORPHA:101016 |
| Persistent Idiopathic Facial Pain |
|
Abnormal autonomic nervous system physiology |
ORPHA:398147 |
| Hemimegalencephaly |
|
Polymicrogyria, Abnormal neuron morphology, Gray matter heterotopia, Pachygyria, Optic atrophy |
ORPHA:99802 |
| Snakebite Envenomation |
|
Hypotension, Cardiogenic shock, Intracranial hemorrhage, Cerebral ischemia, Myocardial infarction... |
ORPHA:449285 |
| Attrv122I Amyloidosis |
|
Abnormal EKG, Reduced left ventricular ejection fraction, Arrhythmia, Abnormal autonomic nervous ... |
ORPHA:85451 |
| Bilateral Striopallidodentate Calcinosis |
|
Abnormality of neuronal migration |
ORPHA:1980 |
| Attrv30M Amyloidosis |
|
Arrhythmia, Cardiomyopathy, Abnormal autonomic nervous system physiology, Atrioventricular block |
ORPHA:85447 |
| Cardiogenic Shock |
|
Cardiac arrest, Abnormal EKG, ST segment elevation, Mitral regurgitation, Hypotension, Elevated j... |
ORPHA:97292 |
| Oculocerebrocutaneous Syndrome |
|
Agenesis of corpus callosum, Gray matter heterotopia |
OMIM:164180 |
| Chromosome 14Q32 Duplication Syndrome, 700-Kb |
|
Myelofibrosis |
OMIM:616604 |
| Multiple System Atrophy |
|
Autonomic erectile dysfunction, Raynaud phenomenon, Autonomic bladder dysfunction, Abnormal auton... |
ORPHA:102 |
| Idiopathic Hypereosinophilic Syndrome |
|
Hepatosplenomegaly, Raynaud phenomenon, Myeloproliferative disorder, Leukocytosis, Anemia, Intrac... |
ORPHA:3260 |
| Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
| Wild Type Attr Amyloidosis |
|
Abnormal EKG, Arrhythmia, Autonomic bladder dysfunction, Abnormal autonomic nervous system physio... |
ORPHA:330001 |
| Riboflavin Transporter Deficiency |
|
Abnormal cranial nerve morphology, Hypertension, Optic disc pallor, Abnormal autonomic nervous sy... |
ORPHA:97229 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypoproteinemia, Increased total bilirubin, Hypertriglyceridemia, Increased circulating ferritin ... |
OMIM:603553 |
| Myotonia Congenita, Autosomal Recessive |
|
Percussion myotonia, EMG: myotonic runs, Myotonia, Myotonia with warm-up phenomenon |
OMIM:255700 |
| Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Abnormal autonomic nervous system physiology |
DECIPHER:59 |
| Hepatocellular Carcinoma |
|
Polycythemia, Hypotension, Anemia, Internal hemorrhage, Portal hypertension, Thrombocytopenia, Th... |
ORPHA:88673 |
| Gray Platelet Syndrome |
|
Epistaxis, Myelofibrosis |
OMIM:139090 |
| Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
ORPHA:90362 |
| Diamond-Blackfan Anemia 1 |
|
Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:105650 |
| Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Abnormal circulating albumin concentration, Retinal h... |
ORPHA:86839 |
| Immunodeficiency 92 |
|
Decreased proportion of class-switched memory B cells, Leukocytosis, B lymphocytopenia, Lymphocyt... |
OMIM:619652 |
| Maternal Hyperthermia-Induced Birth Defects |
|
Abnormality of neuronal migration |
ORPHA:2216 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Cardiomyopathy, Pericarditis, Thrombocytosis |
OMIM:212065 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Myelofibrosis |
OMIM:617441 |
| Multiple System Atrophy, Parkinsonian Type |
|
Autonomic erectile dysfunction, Raynaud phenomenon, Autonomic bladder dysfunction, Abnormal auton... |
ORPHA:98933 |
| Mitchell Syndrome |
|
Abnormal autonomic nervous system physiology |
OMIM:618960 |
| Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
OMIM:616050 |
| Poems Syndrome |
|
Pulmonary arterial hypertension, Polycythemia, Thrombocytosis |
ORPHA:2905 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vii |
|
Abnormal autonomic nervous system physiology |
OMIM:615548 |
| Nipah Virus Disease |
|
Hypotension |
ORPHA:99825 |
| Late-Onset Familial Hypoaldosteronism |
|
Hypotension, Orthostatic hypotension |
ORPHA:556037 |
| Variant Abeta2M Amyloidosis |
|
Abnormal autonomic nervous system physiology, Spinal cord compression, Reduced left ventricular e... |
ORPHA:314652 |
| Cutaneous Mastocytoma |
|
Telangiectasia macularis eruptiva perstans, Hypotension, Telangiectasia of the skin |
ORPHA:79455 |
| Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, ST segment elevation, Mitral regurgitation, Hypotension, Syncope, Palpita... |
ORPHA:66529 |
| Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology |
ORPHA:247604 |
| Alexander Disease |
|
Hypotension, Hypertension, Abnormal autonomic nervous system physiology, Sudden cardiac death, Fa... |
ORPHA:58 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Type II lissencephaly, Polymicrogyria, Partial agenesis of the corpus callosum, Simplified gyral ... |
ORPHA:300570 |
| Perry Syndrome |
|
Hypotension |
ORPHA:178509 |
| Brody Disease |
|
Flexion contracture, Percussion myotonia, Myotonia |
OMIM:601003 |
| Dengue Fever |
|
Hypoproteinemia |
ORPHA:99828 |
| Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Corticospinal tract hypoplasia, Agenesis of corpus callosum, Pachygyria, Periventricular heterotopia |
ORPHA:255138 |
| Richieri Costa-Da Silva Syndrome |
|
Myotonia of the upper limb, Handgrip myotonia, Short neck, Vertebral wedging, Beaking of vertebra... |
ORPHA:3101 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Scoliosis, Joint stiffness, Decreased cervical spine flexion due to contractures of posterior cer... |
ORPHA:98855 |
| Early-Onset Familial Hypoaldosteronism |
|
Hypotension, Orthostatic hypotension |
ORPHA:556030 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiac arrest, Ventricular tachycardia, Hypotension, Cardiomyopathy, Premature ventricular contr... |
OMIM:212138 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hyperkalemia, Hypoalbuminemia, Conjugated hyperbilirubinemia, Increased total bilirubin |
OMIM:618528 |
| Infant Acute Respiratory Distress Syndrome |
|
Cardiac arrest, Tachycardia, Bradycardia, Hypotension |
ORPHA:70587 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Periventricular nodular heterotopia, Optic disc pallor, Tachycardia, Dysplastic corpus callosum |
OMIM:619737 |
| Epilepsy, Familial Focal, With Variable Foci 4 |
|
Abnormal autonomic nervous system physiology |
OMIM:617935 |
| Emery-Dreifuss Muscular Dystrophy |
|
Scoliosis, Joint stiffness, Decreased cervical spine flexion due to contractures of posterior cer... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Scoliosis, Joint stiffness, Decreased cervical spine flexion due to contractures of posterior cer... |
ORPHA:98853 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Scoliosis, Joint stiffness, Short neck, Decreased cervical spine flexion due to contractures of p... |
ORPHA:98863 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Epistaxis, Gastrointestinal hemorrhage, Myelofibrosis |
OMIM:187900 |
| Myelofibrosis |
|
Myelofibrosis |
OMIM:254450 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hypoalbuminemia |
OMIM:618805 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Hypertension, Abnormal autonomic nervous system physiology, Aganglionic megacolon |
OMIM:613870 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoproteinemia, Hyperammonemia, Elevated circulating creatine kinase concentration, Increased ci... |
ORPHA:26793 |
| Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Vertebral wedging, Kyphoscoliosis, Myotonia |
OMIM:255710 |
| Congenital Tricuspid Stenosis |
|
Pulmonary arterial hypertension, Hypotension, Tricuspid regurgitation, Congestive heart failure, ... |
ORPHA:95459 |
| Lissencephaly 5 |
|
Type II lissencephaly, Optic atrophy, Subcortical band heterotopia, Gray matter heterotopia |
OMIM:615191 |
| Multiple System Atrophy, Cerebellar Type |
|
Autonomic erectile dysfunction, Raynaud phenomenon, Autonomic bladder dysfunction, Abnormal auton... |
ORPHA:227510 |
| Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia |
OMIM:618347 |
| Autosomal Dominant Epilepsy With Auditory Features |
|
Abnormal autonomic nervous system physiology |
ORPHA:101046 |
| Walker-Warburg Syndrome |
|
Abnormal cortical gyration, Polymicrogyria, Macrogyria, Pachygyria, Lissencephaly, Optic atrophy,... |
ORPHA:899 |
| Paramyotonia Congenita Of Von Eulenburg |
|
Paradoxical myotonia, Percussion myotonia, Handgrip myotonia |
OMIM:168300 |
| Erythrocytosis, Familial, 2 |
|
Pulmonary arterial hypertension, Cerebral hemorrhage, Increased red blood cell mass, Hypotension,... |
OMIM:263400 |
| Congenital Muscular Dystrophy Without Intellectual Disability |
|
Pachygyria, Facial diplegia, Gray matter heterotopia |
ORPHA:370980 |
| Chromosome 5Q12 Deletion Syndrome |
|
Hypotension |
OMIM:615668 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Optic atrophy, Abnormal autonomic nervous system physiology |
OMIM:610743 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hypotension |
ORPHA:91354 |
| Polyglucosan Body Neuropathy, Adult Form |
|
Abnormal upper motor neuron morphology, Orthostatic hypotension |
OMIM:263570 |
| Trichohepatoenteric Syndrome 1 |
|
Pulmonic stenosis, Aortic regurgitation, Increased mean platelet volume, Thrombocytosis, Splenome... |
OMIM:222470 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Colpocephaly, Simplified gyral pattern, Gray matter heterotopia, Lissencephaly, Optic atrophy, Ag... |
OMIM:615219 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Type II lissencephaly, Polymicrogyria, Cardiomyopathy, Optic nerve hypoplasia, Gray matter hetero... |
ORPHA:370959 |
| Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Optic atrophy, Abnormal autonomic nervous system physiology |
ORPHA:329284 |
| Brain Small Vessel Disease 2 |
|
Polymicrogyria, Intracranial hemorrhage, Subcortical heterotopia |
OMIM:614483 |
| Syndromic Diarrhea |
|
Hypoplasia of the thymus, Lymphopenia, Aortic regurgitation, Increased mean platelet volume, Pate... |
ORPHA:84064 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Type II lissencephaly, Polymicrogyria, Partial agenesis of the corpus callosum, Optic nerve hypop... |
OMIM:614643 |
| Acalvaria |
|
Abnormality of neuronal migration, Spina bifida |
ORPHA:945 |
| Alg1-Cdg |
|
Hypoalbuminemia |
ORPHA:79327 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypotension, Reduced left ventricular ejection fraction, Heart block, Arrhythmia, Capillary leak,... |
ORPHA:542323 |
| Pierson Syndrome |
|
Hypoproteinemia, Retinal vascular tortuosity, Hypopigmentation of the fundus, Retinal detachment,... |
OMIM:609049 |
| Parkinson Disease 4, Autosomal Dominant |
|
Abnormal autonomic nervous system physiology, Orthostatic hypotension |
OMIM:605543 |
| 3-Hydroxyisobutyric Aciduria |
|
Abnormality of neuronal migration |
OMIM:236795 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Abnormal anterior horn cell morphology, Facial diplegia, Paucity of anterior horn motor neurons |
OMIM:611890 |
| Adult Acute Respiratory Distress Syndrome |
|
Vasculitis, Shock, Hypotension |
ORPHA:70578 |
| Corticosteroid-Binding Globulin Deficiency |
|
Hypertension, Hypotension |
OMIM:611489 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:619013 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Abnormal circulating lipid concentration, Increased LDL cholesterol concentration, Hyperammonemia... |
ORPHA:247598 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Increased serum bile acid concentration, Decreased circulating ceruloplasmin concentration, Decre... |
OMIM:242150 |
| Tetanus |
|
Hypertension, Autonomic bladder dysfunction, Abnormal autonomic nervous system physiology, Bradyc... |
ORPHA:3299 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Hypotension |
OMIM:145600 |
| Acquired Von Willebrand Syndrome |
|
Mitral regurgitation, Pulmonic stenosis, Hypotension, Intracranial hemorrhage, Joint hemorrhage, ... |
ORPHA:99147 |
| Meningococcal Meningitis |
|
Papilledema, Shock, Hypotension |
ORPHA:33475 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Abnormal upper motor neuron morphology, Lateral ventricle dilatation |
OMIM:221770 |
| Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Facial palsy, Pachygyria, Abnormality of neuronal migration |
OMIM:608840 |
| Primary Lateral Sclerosis, Juvenile |
|
Decreased compound muscle action potential amplitude, Abnormal upper motor neuron morphology |
OMIM:606353 |
| Celiac Disease, Susceptibility To, 1 |
|
Iron deficiency anemia, Macrocytic anemia, Thrombocytosis |
OMIM:212750 |
| Neuroendocrine Tumor Of The Colon |
|
Hypotension, Palpitations, Facial telangiectasia, Tricuspid regurgitation, Melena, Right ventricu... |
ORPHA:100080 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Atrophy of the spinal cord, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis... |
OMIM:602433 |
| Myotonia Fluctuans |
|
Myotonia of the upper limb, Myotonia of the lower limb, Handgrip myotonia, Myotonia of the face, ... |
ORPHA:99734 |
| Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Cardiac arrest, Arrhythmia, Abnormal autonomic nervous system physiology |
ORPHA:168593 |
| Pure Autonomic Failure |
|
Syncope, Abnormal autonomic nervous system physiology, Orthostatic hypotension |
ORPHA:441 |
| Serotonin Syndrome |
|
Tachycardia, Hypertension, Abnormality of the autonomic nervous system, Hypotension |
ORPHA:43116 |
| Vici Syndrome |
|
Optic atrophy, Agenesis of corpus callosum, Cardiomyopathy, Gray matter heterotopia |
ORPHA:1493 |
| Pseudo-Torch Syndrome 2 |
|
Polymicrogyria, Cerebral hemorrhage, Lateral ventricle dilatation, Gray matter heterotopia, Brady... |
OMIM:617397 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hypotension |
OMIM:264350 |
| Neuroendocrine Tumor Of The Rectum |
|
Hematochezia, Hypotension, Palpitations, Facial telangiectasia, Tricuspid regurgitation, Melena, ... |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Hematochezia, Hypotension, Palpitations, Facial telangiectasia, Tricuspid regurgitation, Melena, ... |
ORPHA:100082 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Abnormal autonomic nervous system physiology |
OMIM:618049 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hypotension |
OMIM:620125 |
| Congenital Hypothyroidism |
|
Arrhythmia, Optic atrophy, Hypertension, Hypotension |
ORPHA:442 |
| Poliomyelitis |
|
Hypovolemic shock, Hypotension, Abnormal motor nerve conduction velocity, Hypertension, Myelitis |
ORPHA:2912 |
| Johanson-Blizzard Syndrome |
|
Hypoproteinemia |
ORPHA:2315 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Hypoalbuminemia |
OMIM:614441 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypoproteinemia, Hypocalcemia |
OMIM:235255 |
| Aggressive Systemic Mastocytosis |
|
Hepatosplenomegaly, Leukocytosis, Hypotension, Anemia, Leukemia, Abnormal mast cell morphology, P... |
ORPHA:98850 |
| Hydroxykynureninuria |
|
Tachycardia, Hypotension |
ORPHA:79155 |
| Brucellosis |
|
Myocarditis, Leukocytosis, Leukopenia, Anemia, Transient ischemic attack, Hypersplenism, Thromboc... |
ORPHA:1304 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Cardiomyopathy, Amyotrophic lateral sclerosis, Cranial nerve compression, Congestive heart failur... |
ORPHA:52430 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hypotension |
OMIM:203400 |
| Systemic Capillary Leak Syndrome |
|
Myocarditis, Arrhythmia, Pericarditis, Hypotension |
ORPHA:188 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Abnormal circulating lipid concentration, Hypercholesterolemia, Hypoalbumin... |
ORPHA:567548 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Elevated circulating C-reactive protein concentration, Hypoalbuminemia |
OMIM:308240 |
| Bronchial Neuroendocrine Tumor |
|
Hypotension, Palpitations, Facial telangiectasia, Tricuspid regurgitation, Right ventricular fail... |
ORPHA:97287 |
| Periventricular Nodular Heterotopia 1 |
|
Cerebral hemorrhage, Abnormality of neuronal migration, Gray matter heterotopia |
OMIM:300049 |
| Familial Hypoaldosteronism |
|
Hypotension, Hypovolemia, Orthostatic hypotension |
ORPHA:427 |
| Pde4D Haploinsufficiency Syndrome |
|
Hypotension |
ORPHA:439822 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Abnormal circulating homocysteine concentration, Hypermethioninemia, Abnormal circulating methion... |
ORPHA:88618 |
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105500 |
| Relapsing Fever |
|
Leukocytosis, Leukopenia, Hypotension, Anemia, Thrombocytopenia, Neutrophilia, Epistaxis, Tachyca... |
ORPHA:91547 |
| Chédiak-Higashi Syndrome |
|
Hypoproteinemia, Abnormality of retinal pigmentation, Tremor, Hypertriglyceridemia, Increased cir... |
ORPHA:167 |
| Post-Traumatic Pituitary Deficiency |
|
Hypotension |
ORPHA:95619 |
| Diamond-Blackfan Anemia |
|
Leukopenia, Pure red cell aplasia, Persistence of hemoglobin F, Neutropenia, Reticulocytopenia, I... |
ORPHA:124 |
| Omenn Syndrome |
|
Hypoproteinemia |
OMIM:603554 |
| Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
| Mpi-Cdg |
|
Hypoalbuminemia |
ORPHA:79319 |
| Infant Botulism |
|
Cardiac arrest, Hypertension, Hypotension |
ORPHA:178478 |
| Aa Amyloidosis |
|
Hypotension |
ORPHA:85445 |
| Mercury Poisoning |
|
Tachycardia, Hypertension, Hypotension |
ORPHA:330021 |
| Eosinophilic Gastroenteritis |
|
Elevated circulating C-reactive protein concentration, Hypoalbuminemia |
ORPHA:2070 |
| Scrub Typhus |
|
Myocarditis, Hypotension |
ORPHA:83317 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hypoproteinemia, Elevated circulating creatine kinase concentration |
OMIM:615895 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Bradycardia, Optic atrophy, Abnormal autonomic nervous system physiology |
OMIM:614498 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
ST segment elevation, Prolonged QRS complex, Hypotension, Cardiomyopathy, ST segment depression, ... |
OMIM:261740 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Polymicrogyria, Arrhythmia, Cardiomyopathy, Pachygyria, Agenesis of corpus callosum, Abnormality ... |
ORPHA:157 |
| Leber Congenital Amaurosis |
|
Abnormal optic disc morphology, Abnormality of neuronal migration |
ORPHA:65 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hypotension |
OMIM:177735 |
| Inhalational Anthrax |
|
Hypotension, Internal hemorrhage |
ORPHA:247257 |
| Myotonia, Potassium-Aggravated |
|
Percussion myotonia, Myotonia, Handgrip myotonia |
OMIM:608390 |
| Wolfram Syndrome, Mitochondrial Form |
|
Optic atrophy, Abnormal autonomic nervous system physiology |
OMIM:598500 |
| Macrophage Activation Syndrome |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Elevated circulating C-reacti... |
ORPHA:158061 |
| Acute Panmyelosis With Myelofibrosis |
|
Low back pain, Myelofibrosis |
ORPHA:86843 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hypoalbuminemia, Elevated circulating creatinine concentration |
OMIM:608104 |
| Legionnaires Disease |
|
Myocarditis, Arrhythmia, Pericarditis, Hypotension |
ORPHA:549 |
| Proximal Myotonic Myopathy |
|
Myotonia |
ORPHA:606 |
| Whipple Disease |
|
Myocarditis, Hypotension, Gastrointestinal hemorrhage, Myocardial infarction, Pericarditis |
ORPHA:3452 |
| Leishmaniasis |
|
Hypoalbuminemia |
ORPHA:507 |
| Desmosterolosis |
|
Abnormal cortical gyration, Polymicrogyria, Macrogyria, Pachygyria, Lissencephaly, Agenesis of co... |
ORPHA:35107 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypoproteinemia, Hypocalcemia |
ORPHA:1655 |
| Normokalemic Periodic Paralysis |
|
Percussion myotonia |
OMIM:170600 |
| Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Hypotension |
ORPHA:79456 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Abnormality of neuronal migration |
ORPHA:2204 |
| Alexander Disease Type Ii |
|
Cervical spinal cord atrophy, Abnormal autonomic nervous system physiology |
ORPHA:363722 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Arrhythmia, Cardiomyopathy, Ventricular tachycardia, Hypotension |
ORPHA:159 |
| Thomsen And Becker Disease |
|
Myotonia |
ORPHA:614 |
| Spastic Paralysis, Infantile-Onset Ascending |
|
Abnormal lower motor neuron morphology, Morphological abnormality of the corticospinal tract |
OMIM:607225 |
| Ethylene Glycol Poisoning |
|
Hypotension, Tachycardia, Hypertension, Facial palsy, Congestive heart failure, Shock, Prolonged ... |
ORPHA:31826 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Postural tremor, Intention tremor, Action tremor, Hypoalbuminemia |
OMIM:254900 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:656 |
| Necrotizing Enterocolitis |
|
Bradycardia, Shock, Hypotension |
ORPHA:391673 |
| Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Abnormal autonomic nervous system physiology, Aganglionic megacolon |
OMIM:243180 |
| Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Autonomic erectile dysfunction, Autonomic bladder dysfunction, Orthostatic hypotension due to aut... |
OMIM:169500 |
| Immunodeficiency 32B |
|
Hypoalbuminemia |
OMIM:226990 |
| Myopathy, Granulovacuolar Lobular, With Electrical Myotonia |
|
Myotonia |
OMIM:254950 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Degeneration of the lateral corticospinal tracts, Abnormal lower motor neuron morphology, Abnorma... |
ORPHA:275872 |
| Congenital Enterovirus Infection |
|
Myocarditis, Cardiomyopathy, Hypotension |
ORPHA:292 |
| Staphylococcal Necrotizing Pneumonia |
|
Shock, Hypotension |
ORPHA:36238 |
| Fabry Disease |
|
Arrhythmia, Hypertension, Abnormal autonomic nervous system physiology, Transient ischemic attack... |
OMIM:301500 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Myeloproliferative disorder, Leukocytosis, Myeloid leukemia, Normocytic anemia, Chronic myelomono... |
ORPHA:98849 |
| Tetrasomy 18P |
|
Syncope, Abnormality of neuronal migration |
ORPHA:3307 |
| Neuroendocrine Tumor Of Stomach |
|
Hypotension, Palpitations, Facial telangiectasia, Tricuspid regurgitation, Melena, Hematemesis, R... |
ORPHA:100075 |
| Myopathy, X-Linked, With Excessive Autophagy |
|
Flexion contracture, Scoliosis, Myotonia |
OMIM:310440 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Scoliosis, Lumbar hyperlordosis, Short neck, Coronal cleft vertebrae, Flexion contracture of toe,... |
OMIM:255800 |
| Hypokalemic Periodic Paralysis |
|
Impaired myocardial contractility, Myotonia |
ORPHA:681 |
| Congenital Isolated Acth Deficiency |
|
Hypotension |
ORPHA:199296 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Chorioretinal hyperpigmentation, Hypoalbuminemia, Optic atrophy, Hyperalaninemia |
OMIM:618329 |
| Erythermalgia, Primary |
|
Palpitations, Abnormal autonomic nervous system physiology |
OMIM:133020 |
| Liver Failure, Infantile, Transient |
|
Hyperbilirubinemia, Hypoalbuminemia |
OMIM:613070 |
| Cocaine Intoxication |
|
Subarachnoid hemorrhage, Prolonged QRS complex, Diffuse alveolar hemorrhage, Hypotension, Tachyca... |
ORPHA:90068 |
| Hennekam-Beemer Syndrome |
|
Arrhythmia, Optic atrophy, Hypotension, Telangiectasia of the skin |
ORPHA:2135 |
| Chronic Bilirubin Encephalopathy |
|
Neonatal hyperbilirubinemia, Hypernatremia, Hypoalbuminemia |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Neonatal hyperbilirubinemia, Hypernatremia, Hypoalbuminemia |
ORPHA:529799 |
| Fragile X-Associated Tremor/Ataxia Syndrome |
|
Hypertension, Abnormal autonomic nervous system physiology, Hypotension |
ORPHA:93256 |
| Periventricular Nodular Heterotopia 7 |
|
Polymicrogyria, Periventricular nodular heterotopia, Optic disc pallor, Gray matter heterotopia |
OMIM:617201 |
| Nephrotic Syndrome, Type 14 |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:617575 |
| Primary Lateral Sclerosis |
|
Cervical spinal cord atrophy, Atrophy of the spinal cord, Abnormal lower motor neuron morphology,... |
ORPHA:35689 |
| Al Amyloidosis |
|
Autonomic erectile dysfunction, Abnormal EKG, Reduced left ventricular ejection fraction, Arrhyth... |
ORPHA:85443 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Polymicrogyria, Heart block, Arrhythmia, Cardiomyopathy, Pachygyria, Agenesis of corpus callosum,... |
ORPHA:228308 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hypovolemia, Agenesis of corpus callosum, Hypotension |
ORPHA:168558 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hypovolemia, Agenesis of corpus callosum, Hypotension |
ORPHA:289548 |
| Colchicine Poisoning |
|
Myocarditis, Hypotension, Arrhythmia, Congestive heart failure, Hypovolemia, Cardiogenic shock |
ORPHA:31824 |
| Castleman Disease |
|
Restrictive cardiomyopathy, Myelofibrosis |
ORPHA:160 |
| Congenital Disorder Of Deglycosylation 2 |
|
Polymicrogyria, Partial agenesis of the corpus callosum, Gray matter heterotopia |
OMIM:619775 |
| Interstitial Lung And Liver Disease |
|
Anemia, Thrombocytosis |
OMIM:615486 |
| Autosomal Recessive Axonal Neuropathy With Neuromyotonia |
|
Camptodactyly of finger, Handgrip myotonia, Myotonia, Percussion-induced rapid rolling muscle con... |
ORPHA:324442 |
| Ileal Neuroendocrine Tumor |
|
Hypotension, Pulmonic stenosis, Right ventricular failure, Arrhythmia, Palpitations, Cardiogenic ... |
ORPHA:100078 |
| Jejunal Neuroendocrine Tumor |
|
Hypotension, Pulmonic stenosis, Right ventricular failure, Arrhythmia, Palpitations, Cardiogenic ... |
ORPHA:100077 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypoalbuminemia |
OMIM:617021 |
| Posttransplant Acute Limbic Encephalitis |
|
Abnormal autonomic nervous system physiology |
ORPHA:163921 |
| Mastocytosis |
|
Arrhythmia, Gastrointestinal hemorrhage, Hypotension, Telangiectasia of the skin |
ORPHA:98292 |
| Renal Tubular Dysgenesis |
|
Hypotension |
OMIM:267430 |
| Congenital-Onset Steinert Myotonic Dystrophy |
|
Scoliosis, Myotonia, First degree atrioventricular block, Bundle branch block, Patent ductus arte... |
ORPHA:589821 |
| Aicardi-Goutieres Syndrome 9 |
|
Optic atrophy, Chorioretinal atrophy, Dystonia, Hypoalbuminemia |
OMIM:619487 |
| Bacterial Toxic-Shock Syndrome |
|
Myocarditis, Hypotension, Capillary leak, Shock, Tachycardia |
ORPHA:36234 |
| Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Myotonia, Anemia |
ORPHA:371 |
| 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 |
| Muscular Dystrophy, Barnes Type |
|
Myotonia |
OMIM:158800 |
| Wolcott-Rallison Syndrome |
|
Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Hypoalbuminemia |
ORPHA:1667 |
| Machado-Joseph Disease |
|
Spinocerebellar tract degeneration, Abnormal autonomic nervous system physiology |
OMIM:109150 |
| Late-Onset Isolated Acth Deficiency |
|
Hypotension, Orthostatic hypotension |
ORPHA:199299 |
| Avian Influenza |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatine kinase conce... |
ORPHA:454836 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Lymphocytosis, Thrombo... |
OMIM:301074 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Pulmonic stenosis, Short neck, Aortic regurgitation, Joint laxity, Myelofibrosis, Hypertrophic ca... |
OMIM:607721 |
| Leigh Syndrome With Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:255249 |
| Lujo Hemorrhagic Fever |
|
Myocarditis, Hypotension, Subconjunctival hemorrhage, Shock, Bradycardia |
ORPHA:319213 |
| Neonatal Adrenoleukodystrophy |
|
Optic atrophy, Abnormality of neuronal migration |
ORPHA:44 |
| Hepatoportal Sclerosis |
|
Hyperbilirubinemia, Hypoalbuminemia |
ORPHA:64743 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hyperammonemia, Decreased serum zinc, Conjugated hyperbilirubinemia, Hypoalbuminemia |
OMIM:617093 |
| Abetalipoproteinemia |
|
Hypopigmentation of the fundus, Decreased LDL cholesterol concentration, Abnormality of retinal p... |
ORPHA:14 |
| Myotonic Dystrophy 2 |
|
Handgrip myotonia, Palpitations, Myotonia, Premature ventricular contraction, Tachycardia, Right ... |
OMIM:602668 |
| Inherited Creutzfeldt-Jakob Disease |
|
Abnormal autonomic nervous system physiology, Vestibular nystagmus |
ORPHA:282166 |
| Neurocutaneous Melanocytosis |
|
Syringomyelia, Intracranial hemorrhage, Abnormality of neuronal migration |
ORPHA:2481 |
| Myotonia Permanens |
|
Myotonia, Limitation of joint mobility, Hyperlordosis |
ORPHA:99735 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Chorioretinal hypopigmentation, Optic atrophy, Hypoalbuminemia |
OMIM:617303 |
| Episodic Ataxia Type 1 |
|
Scoliosis, Kyphoscoliosis, Myotonia |
ORPHA:37612 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Polymicrogyria, Antenatal intracerebral hemorrhage, Arrhythmia, Dilated cardiomyopathy, Agenesis ... |
OMIM:608836 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia |
ORPHA:540 |
| Sepsis In Premature Infants |
|
Bradycardia, Tachycardia, Hypotension |
ORPHA:90051 |
| Duodenal Neuroendocrine Tumor |
|
Hypotension, Pulmonic stenosis, Right ventricular failure, Arrhythmia, Palpitations, Melena, Hema... |
ORPHA:100076 |
| Caribbean Parkinsonism |
|
Autonomic bladder dysfunction, Abnormal autonomic nervous system physiology, Orthostatic hypotension |
ORPHA:97355 |
| Xfe Progeroid Syndrome |
|
Optic atrophy, Attenuation of retinal blood vessels, Hypoalbuminemia |
OMIM:610965 |
| Neuromuscular Oculoauditory Syndrome |
|
Periventricular heterotopia, Decreased amplitude of sensory action potentials, Decreased nerve co... |
OMIM:618733 |
| Hemorrhagic Fever-Renal Syndrome |
|
Hypotension, Palpitations, Intracranial hemorrhage, Hypertension, Capillary leak, Subconjunctival... |
ORPHA:340 |
| Acute Adrenal Insufficiency |
|
Myocardial infarction, Hypovolemia, Orthostatic hypotension, Hypotension |
ORPHA:95409 |
| Cholera |
|
Hypovolemic shock, Tachycardia, Hypotension |
ORPHA:173 |
| Hyperkalemic Periodic Paralysis |
|
Flexion contracture, Arrhythmia, Congestive heart failure, Myotonia |
ORPHA:682 |
| Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Simplified gyral pattern, Periventricular heterotopia |
OMIM:618273 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Abnormality of neuronal migration |
ORPHA:2772 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Tricuspid regurgitation, Agenesis of corpus callosum, Periventricular heterotopia |
OMIM:618929 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Abnormal autonomic nervous system physiology, Orthostatic hypotension due to auto... |
OMIM:105210 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hypoalbuminemia |
ORPHA:367 |
| Infantile Neuroaxonal Dystrophy |
|
Optic atrophy, Abnormality of peripheral nerve conduction, Abnormal autonomic nervous system phys... |
ORPHA:35069 |
| Pituitary Apoplexy |
|
Hypertension, Hypotension |
ORPHA:95613 |
| Hyperkalemic Periodic Paralysis |
|
Myotonia |
OMIM:170500 |
| Hypomelanosis Of Ito |
|
Gray matter heterotopia |
OMIM:300337 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Hypotension |
OMIM:608643 |
| Familial Glucocorticoid Deficiency |
|
Hypotension, Hypertrophic cardiomyopathy |
ORPHA:361 |
| Autosomal Dominant Hypocalcemia |
|
Arrhythmia, Optic atrophy, Congestive heart failure, Hypotension |
ORPHA:428 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Colpocephaly, Optic atrophy, Periventricular heterotopia |
OMIM:619833 |
| Wilson Disease |
|
Limb dystonia, Hand tremor, Hypouricemia, Increased circulating copper concentration, Tremor, Hyp... |
OMIM:277900 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Myelofibrosis |
OMIM:301078 |
| Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Decreased nerve conduction velocity, Abnormal upper motor... |
OMIM:606070 |
| Crimean-Congo Hemorrhagic Fever |
|
Myocarditis, Pulmonary arterial hypertension, Diffuse alveolar hemorrhage, Hypotension, Subdural ... |
ORPHA:99827 |
| Non-Functioning Pituitary Adenoma |
|
Hypotension |
ORPHA:91349 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated circulating alpha-fetoprotein concentration, Hyperbilirubinemia, Hypoalbuminemia |
OMIM:251880 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Hypochromic anemia, Leukocytosis, Thrombocytosis |
OMIM:618213 |
| Gitelman Syndrome |
|
Palpitations, Prolonged QT interval, Ventricular tachycardia, Hypotension |
OMIM:263800 |
| Cerebrofacioarticular Syndrome |
|
Gray matter heterotopia, Agenesis of corpus callosum, Pulmonic stenosis, Dysplastic corpus callosum |
ORPHA:314679 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Gray matter heterotopia |
OMIM:619694 |
| Radio-Tartaglia Syndrome |
|
Agenesis of corpus callosum, Gray matter heterotopia |
OMIM:619312 |
| Indifference To Pain, Congenital, Autosomal Recessive |
|
Abnormal autonomic nervous system physiology, Abnormal nerve conduction velocity |
OMIM:243000 |
| 16P13.11 Microdeletion Syndrome |
|
Agenesis of corpus callosum, Abnormality of neuronal migration |
ORPHA:261236 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Atrophy of the spinal cord, Autonomic bladder dysfunction, Abnormal autonomic nervous system phys... |
ORPHA:99027 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypertriglyceridemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypoalbuminemia |
OMIM:618183 |
| 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 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Hypermethioninemia, Conjugated hyperbilirubinemia, Hyperbilirubinemia, Hypoalbu... |
OMIM:617156 |
| Hypokalemic Periodic Paralysis, Type 1 |
|
Myotonia |
OMIM:170400 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Scoliosis, Kyphoscoliosis, Myotonia |
ORPHA:391307 |
| Cerebral Palsy, Spastic Quadriplegic, 3 |
|
Gray matter heterotopia |
OMIM:617008 |
| Achalasia-Addisonianism-Alacrima Syndrome |
|
Optic atrophy, Abnormal autonomic nervous system physiology, Orthostatic hypotension |
OMIM:231550 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hypotension |
ORPHA:90791 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Hypertension, Hypotension |
OMIM:174000 |
