Carbimazole Sensitivity |
|
Drug-induced agranulocytosis |
OMIM:212060 |
Lactic Acidosis, Chronic Adult Form |
|
Hyperuricemia |
OMIM:150170 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Hyperuricemia, Anemia |
ORPHA:371 |
Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Hyperuricemia |
OMIM:609886 |
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion |
|
Hypouricemia |
OMIM:307830 |
Lesch-Nyhan Phenotype With Normal Hgprt |
|
Hyperuricemia |
OMIM:308950 |
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase |
|
Hyperuricemia |
OMIM:240000 |
Lesch-Nyhan Syndrome |
|
Hyperuricemia, Anemia |
ORPHA:510 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Hyperuricemia, Anemia, Neutropenia |
OMIM:617056 |
Microcephaly, Seizures, And Developmental Delay |
|
Cerebellar atrophy, Hyperactivity, Ataxia, Simplified gyral pattern |
OMIM:613402 |
Glycogen Storage Disease Ixa1 |
|
Splenomegaly, Hypertriglyceridemia, Hypercholesterolemia, Hyperuricemia |
OMIM:306000 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Hyperuricemia, Anemia |
OMIM:613092 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Cerebellar hypoplasia, Hypertrophic cardiomyopathy |
OMIM:620270 |
Hypouricemia, Renal, 2 |
|
Hypouricemia |
OMIM:612076 |
Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia |
OMIM:242050 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Type II lissencephaly, Cerebellar dysplasia |
OMIM:615041 |
Glycogen Storage Disease Ixb |
|
Splenomegaly, Hyperuricemia |
OMIM:261750 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
Glycogen Storage Disease V |
|
Hyperuricemia, Elevated circulating creatine kinase concentration |
OMIM:232600 |
Burkitt Lymphoma |
|
Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen, Hyperuricemia |
ORPHA:543 |
Xanthinuria, Type Ii |
|
Increased circulating hypoxanthine concentration, Hypouricemia, Hyperxanthinemia |
OMIM:603592 |
Glycogen Storage Disease Vii |
|
Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Reduced er... |
OMIM:232800 |
Juvenile Huntington Disease |
|
Cerebellar atrophy, Broad-based gait, Hyperactivity, Ataxia, Chorea, Gait ataxia, Depression, Pro... |
ORPHA:248111 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Increased blood urea nitrogen, Anemia, Leukopenia, Hyperuricemia, Hyp... |
OMIM:613845 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Hyperuricemia |
OMIM:162000 |
Hyperuricemic Nephropathy, Familial Juvenile, 3 |
|
Hyperuricemia |
OMIM:614227 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Cerebellar atrophy, Hyperactivity, Cerebellar vermis hypoplasia, Inability to walk, Dysmetria, Ga... |
OMIM:618090 |
Hyperuricemia, Hprt-Related |
|
Hyperuricemia |
OMIM:300323 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hyperuricemia |
ORPHA:3222 |
Cystinuria |
|
Hyperuricemia |
ORPHA:214 |
Chudley-Mccullough Syndrome |
|
Gray matter heterotopia, Polymicrogyria, Cerebellar hypoplasia, Cerebellar dysplasia |
OMIM:604213 |
Hartnup Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder, Episodic ataxia, Emotional lability, Neu... |
OMIM:234500 |
Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia, Aggressive behavior, Hyperglycinuria, Hyperprolinemia, Prolinuria, Hydroxy... |
OMIM:239500 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hyperammonemia, Hyperuricemia, Anemia |
OMIM:246450 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Cerebellar atrophy, Hyperactivity, Ataxia, Increased level of gamma-aminobutyric acid in urine, A... |
OMIM:271980 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Irritability, Tics, At... |
ORPHA:66624 |
Cln5 Disease |
|
Cerebellar atrophy, Hyperactivity, Ataxia, Aggressive behavior, Atrophy/Degeneration affecting th... |
ORPHA:228360 |
Juvenile Paget Disease |
|
Hyperuricemia |
ORPHA:2801 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia |
OMIM:604367 |
Aminoacylase 1 Deficiency |
|
Cerebellar atrophy, Hyperactivity, Cerebral atrophy, Bradycardia, Cerebral cortical atrophy |
OMIM:609924 |
Coach Syndrome 2 |
|
Hypertension, Cerebellar vermis hypoplasia, Elevated circulating creatinine concentration |
OMIM:619111 |
Morgagni-Stewart-Morel Syndrome |
|
Hypercholesterolemia, Hyperuricemia |
ORPHA:77296 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Hypertriglyceridemia, Ataxia, Cerebral atrophy, Mental deterioration, Neuronal los... |
OMIM:615924 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Dilated fourth ventricle, Cerebellar dysplasia, Ataxia, Elevated circulating creatine kinase conc... |
ORPHA:370022 |
Distal 16P11.2 Microdeletion Syndrome |
|
Hyperuricemia |
ORPHA:261222 |
Renal Failure, Progressive, With Hypertension |
|
Hypertension, Elevated circulating creatinine concentration |
OMIM:161900 |
Hyperlysinemia, Type I |
|
Short attention span, Hyperactivity, Hyperlysinuria, Cognitive impairment, Hyperlysinemia |
OMIM:238700 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cerebellar vermis hypoplasia, Elevated circulating creatine kinase concentration, Inability to wa... |
OMIM:613155 |
Beta-Ketothiolase Deficiency |
|
Thrombocytosis, Leukocytosis, Hyperuricemia, Hyperammonemia |
ORPHA:134 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Hypouricemia, Increased circulating guanosine concentration, Pure re... |
OMIM:613179 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Ataxia, Dysesthesia, Dysmetria, Gait ataxia, Depression, Hypertension, Dysphagia, Dementia, Gait ... |
ORPHA:93256 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Elevated circulating creatinine concentration, Hyperuricemia |
ORPHA:79233 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Decreased testicular size, Myocardial infarction, Depression, Gait disturbance, Gliosis, Abnormal... |
ORPHA:457240 |
Medullary cystic kidney disease 2 |
|
Hyperuricemia |
OMIM:603860 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Impulsivity, Ataxia, Attention deficit hyperactivity disorder |
OMIM:617113 |
Pparg-Related Familial Partial Lipodystrophy |
|
Splenomegaly, Hypertriglyceridemia, Hyperuricemia |
ORPHA:79083 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Perisylvian polymicrogyria, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebellar dyspl... |
OMIM:616531 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hyperuricemia |
ORPHA:411536 |
Landau-Kleffner Syndrome |
|
Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Gait ataxia, Social and oc... |
ORPHA:98818 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Congestive heart failure, Abnorma... |
ORPHA:3077 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior |
ORPHA:208441 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cerebellar dysplasia, Agenesis of cerebellar vermis, Elevated circulating creatine kinase concent... |
OMIM:613153 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Ataxia, Abnormal neuron morphology, Aggressive behavior, Abnormality of neuronal m... |
ORPHA:163681 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Hyponatremia, Macrocytic anemia, Hypercalcemia, Eosinophilia, Hyperkalemia, Hy... |
ORPHA:199299 |
Infantile Neuroaxonal Dystrophy |
|
Psychomotor deterioration, Short attention span, Cerebellar atrophy, Hyperactivity, Ataxia, Impul... |
ORPHA:35069 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Leukocytosis, Hyperammonemia, Leukopenia, Hyperuricemia, Thrombocytosis, Anemia |
ORPHA:20 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Hypouricemia, Autoimmune thrombocytopenia, Abnormal T cell morpholog... |
ORPHA:760 |
Combined Deficiency Of Factor V And Factor Viii |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
Bilateral Frontoparietal Polymicrogyria |
|
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal cerebellum morphology, Gait imbala... |
ORPHA:101070 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration, Ataxia, Aggr... |
OMIM:612736 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp... |
ORPHA:94093 |
Preeclampsia |
|
Hypertension, Elevated systolic blood pressure, Elevated circulating creatinine concentration, El... |
ORPHA:275555 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Progressive neurologic deterioration, Raynaud phenomenon, Punctate v... |
ORPHA:247691 |
Ataxia-Telangiectasia-Like Disorder 1 |
|
Cerebellar atrophy, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia, Choreoathetosis, Telan... |
OMIM:604391 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Hyperactivity, Ataxia, Aggressive behavior, Corpus callosum atrophy, Inabilit... |
ORPHA:168491 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Elevated circulating creatinine concentration, Hyperuricemia, Anemia |
OMIM:174000 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Hyperpro... |
ORPHA:90041 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hyperalaninemia, Hyperuricemia, Neonatal hyperbilirubinemia |
ORPHA:348 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Cerebellar atrophy, Short attention span, Hyperactivity, Impulsivity, Chorea, Dysmetria, Gait ata... |
OMIM:610217 |
Myopathy With Extrapyramidal Signs |
|
Extremely elevated creatine kinase, Hyperactivity, Ataxia, Elevated circulating creatine kinase c... |
OMIM:615673 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Cerebellar dysplasia, Elevated circulating creatine kinase concentration, Hypoplasia of the pons,... |
OMIM:615181 |
Obesity Due To Sim1 Deficiency |
|
Cognitive impairment, Hypotension, Attention deficit hyperactivity disorder, Memory impairment, P... |
ORPHA:369873 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Confusion, Myocardial infarction, Rig... |
ORPHA:97292 |
Gomez-Lopez-Hernandez Syndrome |
|
Fusion of the cerebellar hemispheres, Hyperactivity, Agenesis of cerebellar vermis, Cerebellar ve... |
OMIM:601853 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Caudate atrophy, Hyperactivity, Ataxia, Hypertriglyceridemia, Progressive psychomotor deteriorati... |
ORPHA:363400 |
Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hyperuricemia |
ORPHA:411543 |
Lesch-Nyhan Syndrome |
|
Hyperuricemia, Megaloblastic anemia |
OMIM:300322 |
Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia |
OMIM:203800 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hyperactivity, Aggressive behavior, Cryptorchidism, Simplified gyral pattern, Gait ataxia, Emotio... |
OMIM:300354 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Cerebellar atrophy, Hyperactivity, Aggressive behavior, Corpus callosum atrophy, Brain atrophy, C... |
ORPHA:369939 |
Glycogen Storage Disease Ib |
|
Splenomegaly, Hyperlipidemia, Hyperuricemia, Neutropenia |
OMIM:232220 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia |
OMIM:239000 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Hypertension, Elevated circulating creatinine concentration |
ORPHA:567544 |
Hypouricemia, Renal, 1 |
|
Elevated circulating creatinine concentration, Hypouricemia |
OMIM:220150 |
Poretti-Boltshauser Syndrome |
|
Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Gray matter heterot... |
OMIM:615960 |
Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine, Arrhythmia, Confusion, Myocardial infarction |
ORPHA:54057 |
Optic Atrophy 11 |
|
Hyperactivity, Ataxia, Gait apraxia, Dysmetria, Athetosis, Stereotypical body rocking, Cerebellar... |
OMIM:617302 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Impulsivity, Impaired pain sensation, Aggressive behavior, Inability to walk, Chor... |
ORPHA:500180 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Chorea, Athetosis, Self-injurious behavior |
ORPHA:382 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Hypertension, Elevated circulating creatinine concentration |
OMIM:616733 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Confusion, Heart block, Elevated circulating creatinine concentration, Capillary lea... |
ORPHA:542323 |
Acute Adrenal Insufficiency |
|
Normocytic anemia, Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, ... |
ORPHA:95409 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Hyperactivity, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Dys... |
OMIM:617751 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Disorganization of the anterior cerebellar vermis, Hyperactivity, Cerebellar vermis hypoplasia, C... |
OMIM:300486 |
Hereditary Fructose Intolerance |
|
Hypermagnesemia, Hyperuricemia, Hypophosphatemia |
ORPHA:469 |
3-Methylglutaconic Aciduria, Type Iv |
|
Cryptorchidism, Cerebellar dysplasia |
OMIM:250951 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Short attention span, Hyperactivity, Cerebellar vermis hypoplasia, Aggressive behavior, Dysphoria... |
OMIM:620242 |
Adenylosuccinase Deficiency |
|
Cerebellar atrophy, Hyperactivity, Aggressive behavior, Inability to walk, Cerebral atrophy, Gait... |
OMIM:103050 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... |
ORPHA:439232 |
Molybdenum Cofactor Deficiency, Complementation Group C |
|
Hypocystinemia, Hypouricemia, Hypertaurinemia |
OMIM:615501 |
Glycogen Storage Disease Ic |
|
Hyperuricemia, Hyperlipidemia, Cyclic neutropenia |
OMIM:232240 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Chronic neutropenia, Hyperlipidemia, Hyperuricemia, Hypercholesterolemia, A... |
ORPHA:79259 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Hyperactivity, Ataxia, Simplified gyral pattern, Emotional lability, Enlarged cerebellum |
OMIM:620047 |
Nephronophthisis-Like Nephropathy 2 |
|
Polydipsia, Elevated circulating creatinine concentration |
OMIM:619468 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Pulmonic stenosis, Attention deficit hyperactivi... |
OMIM:620141 |
C3 Glomerulopathy |
|
Hypertension, Elevated circulating creatinine concentration |
ORPHA:329918 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Choreoathetosis, Transient hyperphenylalaninemia |
OMIM:612716 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:617872 |
Glycogen Storage Disease Ia |
|
Hyperlipidemia, Hyperuricemia |
OMIM:232200 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... |
ORPHA:3282 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Chorea, Cerebral atrophy, Inappropriate behavior, Neurodegenerati... |
ORPHA:309246 |
Addison Disease |
|
Normocytic anemia, Hyponatremia, Hypercalcemia, Thiamine-responsive megaloblastic anemia, Hyperka... |
ORPHA:85138 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Irritability, Elevated systolic blood pressure, Decrea... |
OMIM:300539 |
Papillorenal Syndrome |
|
Chiari type I malformation, Hypertension, Elevated circulating creatinine concentration, Gliosis |
OMIM:120330 |
Relapsing Fever |
|
Tachycardia, Epistaxis, Elevated circulating C-reactive protein concentration, Elevated circulati... |
ORPHA:91547 |
47,Xyy Syndrome |
|
Hyperactivity, Macroorchidism, Impulsivity, Cryptorchidism, Oligozoospermia, Azoospermia, Attenti... |
ORPHA:8 |
Hypomagnesemia 3, Renal |
|
Hyperuricemia, Hypomagnesemia |
OMIM:248250 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Elevated circulating ... |
OMIM:608836 |
Lethal Ataxia With Deafness And Optic Atrophy |
|
Abnormal erythrocyte enzyme level, Hypouricemia |
ORPHA:1187 |
Nephronophthisis 2 |
|
Hypertension, Elevated circulating creatinine concentration, Pulmonary insufficiency, Hyperkalemia |
OMIM:602088 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Increased blood urea nitrogen |
ORPHA:94088 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Restlessness, Confusion, Abnormal fear-induced behavior, Abnormal circulating porph... |
ORPHA:100924 |
Argininemia |
|
Cerebellar atrophy, Hyperactivity, Anorexia, Hyperammonemia, Irritability, Diaminoaciduria, Hyper... |
OMIM:207800 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Hypophosphatemia |
OMIM:616026 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hyperuricemia |
OMIM:300661 |
Hereditary Xanthinuria |
|
Hypouricemia, Hyperxanthinemia |
ORPHA:3467 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Chorea, Heart murmur, Pulmonic stenosis, Attention deficit hyperactivity disorder,... |
OMIM:617600 |
Familial Osteodysplasia, Anderson Type |
|
Hyperuricemia |
ORPHA:2769 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia |
OMIM:617744 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Tachycardia, Elevated circulating creatinine concentration, Hypertension... |
OMIM:223900 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent... |
OMIM:227810 |
Bacterial Toxic-Shock Syndrome |
|
Shock, Tachycardia, Confusion, Elevated circulating creatine kinase concentration, Myocarditis, E... |
ORPHA:36234 |
Perry Syndrome |
|
Dementia, Hypotension, Depression |
ORPHA:178509 |
Joubert Syndrome 23 |
|
Cerebellar dysplasia |
OMIM:616490 |
Fructose Intolerance, Hereditary |
|
Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia |
OMIM:229600 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Short attention span, Hyperactivity, Ataxia, Confusion, Abnormal circulating fatty-acid concentra... |
ORPHA:139396 |
Marburg Hemorrhagic Fever |
|
Shock, Tachycardia, Pericarditis, Confusion, Anorexia, Aggressive behavior, Dysesthesia, Orchitis... |
ORPHA:99826 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Elevated circulating creatinine concentration, Hypertension, Cognitive impairment... |
OMIM:235400 |
X-Linked Adrenoleukodystrophy |
|
Somatic sensory dysfunction, Hyperactivity, Aggressive behavior, Dementia, Gait disturbance, Disi... |
ORPHA:43 |
Snakebite Envenomation |
|
Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Neuromuscular dysphagia, Intracrania... |
ORPHA:449285 |
Hemorrhagic Fever-Renal Syndrome |
|
Shock, Tachycardia, Confusion, Epistaxis, Hematemesis, Elevated circulating creatinine concentrat... |
ORPHA:340 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Arterial occlusion, Abnormal cardiovascular system physiology, Decreased serum creatinine |
ORPHA:289601 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiac arrest, Elevated circulating creatine kinase concentration, Ventricular tachycardia, Atri... |
OMIM:212138 |
Citrullinemia Type Ii |
|
Restlessness, Hyperactivity, Decreased HDL cholesterol concentration, Acute hyperammonemia, Confu... |
ORPHA:247585 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Short attention span, Hyperactivity, Aggressive behavior, Depression, Hypertension, Irritability,... |
ORPHA:449291 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Cryptorchidism, Elevated circulating creatinine concentration, Hypoalbuminemia |
OMIM:608104 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Hyperuricemia |
ORPHA:93111 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Transient ischemic attack, Confusion, Myocardial infarction, Elevated circulating creatinine conc... |
OMIM:274150 |
Igg4-Related Retroperitoneal Fibrosis |
|
Anorexia, Elevated circulating C-reactive protein concentration, Elevated circulating creatinine ... |
ORPHA:49041 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Gastrointestinal hemorrhage, Decreased HDL cholesterol concentration, Decreased circulating apoli... |
ORPHA:85450 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Abnormal pons morphology, Macroorchidism, Aggressive behavior |
ORPHA:85327 |
Renal Cysts And Diabetes Syndrome |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:137920 |
Analbuminemia |
|
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu... |
OMIM:616000 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypertension, Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating al... |
OMIM:613095 |
Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Elevated circulating creatinine concentration, Syncope, Or... |
ORPHA:230 |
Wilson Disease |
|
Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Splenomegaly, ... |
OMIM:277900 |
Cockayne Syndrome |
|
Splenomegaly, Hyperuricemia |
ORPHA:191 |
Meningococcal Meningitis |
|
Shock, Anorexia, Elevated circulating C-reactive protein concentration, Irritability, Paresthesia... |
ORPHA:33475 |
Acute Interstitial Pneumonia |
|
Hypertension, Elevated circulating creatinine concentration, Elevated circulating C-reactive prot... |
ORPHA:79126 |
Interstitial Nephritis, Karyomegalic |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
Serotonin Syndrome |
|
Restlessness, Tachycardia, Confusion, Hypertension, Irritability, Agitation, Hypotension, Mental ... |
ORPHA:43116 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Hypertension, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Hypertension, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Hypertension, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612926 |
Poliomyelitis |
|
Confusion, Anorexia, Inability to walk, Hypertension, Hypovolemic shock, Irritability, Paresthesi... |
ORPHA:2912 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Hypertension, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612924 |
Pitt-Hopkins-Like Syndrome 1 |
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Hyperactivity, Ataxia, Aggressive behavior, Progressive language deterioration, Attention deficit... |
OMIM:610042 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
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Hypertension, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612925 |
Eisenmenger Syndrome |
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Brain abscess, Elevated circulating C-reactive protein concentration, Hypochromic microcytic anem... |
ORPHA:97214 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Hyponatremia, Pericarditis, Ataxia, Myocardial infarction, Anorexia,... |
ORPHA:3452 |
Diffuse Alveolar Hemorrhage |
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Pulmonary venous hypertension, Elevated circulating creatinine concentration |
ORPHA:90060 |
Ethylene Glycol Poisoning |
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Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Ataxia, Confusion, Congestive hea... |
ORPHA:31826 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... |
ORPHA:411634 |
Nipah Virus Disease |
|
Hypotension, Anorexia |
ORPHA:99825 |
Mercury Poisoning |
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Tachycardia, Confusion, Anorexia, Hypertension, Hypokalemia, Hypotension |
ORPHA:330021 |
Cryoglobulinemia, Familial Mixed |
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Hypertension, Elevated circulating creatinine concentration |
OMIM:123550 |
Cutaneous Mastocytoma |
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Telangiectasia of the skin, Hypotension, Telangiectasia macularis eruptiva perstans |
ORPHA:79455 |
Crome Syndrome |
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Cerebellar dysplasia |
OMIM:218900 |
Carnitine-Acylcarnitine Translocase Deficiency |
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Elevated creatine kinase after exercise, Elevated circulating acylcarnitine concentration, Ventri... |
ORPHA:159 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
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Elevated circulating creatinine concentration |
OMIM:242530 |
Renal Tubular Acidosis, Distal, 1 |
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Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
Osteopetrosis, Autosomal Recessive 9 |
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Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:620366 |
Oligomeganephronia |
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Hypertension, Polydipsia, Elevated circulating creatinine concentration |
ORPHA:2260 |
Legionnaires Disease |
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Hyponatremia, Pericarditis, Ataxia, Anorexia, Myocarditis, Hypotension, Arrhythmia |
ORPHA:549 |
Fanconi Renotubular Syndrome 3 |
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Aminoaciduria, Elevated circulating creatinine concentration |
OMIM:615605 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
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Elevated circulating creatinine concentration |
OMIM:614376 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
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Tongue thrusting, Choreoathetosis, Athetosis, Irritability, Hypotension, Emotional lability |
OMIM:608643 |
Neuroendocrine Tumor Of The Colon |
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Tricuspid regurgitation, Anorexia, Right ventricular failure, Melena, Palpitations, Hypotension, ... |
ORPHA:100080 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
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Hyponatremia, Myocardial infarction, Elevated circulating creatinine concentration, Hypertension,... |
ORPHA:90038 |
Gitelman Syndrome |
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Prolonged QT interval, Salt craving, Ataxia, Hypomagnesemia, Ventricular tachycardia, Hypokalemia... |
OMIM:263800 |
Choreoacanthocytosis |
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Caudate atrophy, Elevated circulating creatine kinase concentration, Chorea, Compulsive behaviors... |
ORPHA:2388 |
Mitochondrial Trifunctional Protein Deficiency 2 |
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Tricuspid regurgitation, Increased circulating NT-proBNP concentration, Elevated circulating crea... |
OMIM:620300 |
Sickle Cell Anemia |
|
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia |
ORPHA:232 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
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Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration |
OMIM:620138 |
Molybdenum Cofactor Deficiency, Complementation Group B |
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Hypouricemia |
OMIM:252160 |
Hydroxykynureninuria |
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Abnormal circulating tryptophan concentration, Tachycardia, Abnormal repetitive mannerisms, Hypot... |
ORPHA:79155 |
Staphylococcal Necrotizing Pneumonia |
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Shock, Confusion, Elevated circulating C-reactive protein concentration, Addictive alcohol use, H... |
ORPHA:36238 |
Neuroendocrine Tumor Of The Rectum |
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Tricuspid regurgitation, Anorexia, Right ventricular failure, Hematochezia, Melena, Palpitations,... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
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Tricuspid regurgitation, Anorexia, Right ventricular failure, Hematochezia, Melena, Palpitations,... |
ORPHA:100082 |
Neurodegeneration With Brain Iron Accumulation 1 |
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Motor tics, Hyperactivity, Ataxia, Akinesia, Phonic tics, Depression, Choreoathetosis, Dementia, ... |
OMIM:234200 |
Molybdenum Cofactor Deficiency, Complementation Group A |
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Hypouricemia |
OMIM:252150 |
Tako-Tsubo Cardiomyopathy |
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Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... |
ORPHA:66529 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
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Cerebellar dysplasia, Elevated circulating creatine kinase concentration, Partial absence of cere... |
OMIM:613150 |
Autosomal Dominant Polycystic Kidney Disease |
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Hypertension, Elevated circulating creatinine concentration, Reduced sperm motility |
ORPHA:730 |
Infant Botulism |
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Hyponatremia, Cardiac arrest, Anorexia, Hypertension, Hypotension, Dysphagia |
ORPHA:178478 |
Bilateral Perisylvian Polymicrogyria |
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Cerebellar vermis hypoplasia, Perisylvian predominant thick cortex pachygyria, Abnormality of neu... |
ORPHA:98889 |
Adenine Phosphoribosyltransferase Deficiency |
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Elevated circulating creatinine concentration |
OMIM:614723 |
Alexander Disease |
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Ataxia, Sudden cardiac death, Chorea, Depression, Hypertension, Self-injurious behavior, Gait dis... |
ORPHA:58 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating carnitine conc... |
ORPHA:3337 |
Bronchial Neuroendocrine Tumor |
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Tricuspid regurgitation, Anorexia, Right ventricular failure, Palpitations, Facial telangiectasia... |
ORPHA:97287 |
Malignant Hyperthermia, Susceptibility To, 1 |
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Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,... |
OMIM:145600 |
Congenital Disorder Of Glycosylation, Type Iit |
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Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia |
OMIM:618885 |
Autosomal Dominant Hypocalcemia |
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Congestive heart failure, Depression, Hyperphosphatemia, Paresthesia, Hypocalcemia, Hypotension, ... |
ORPHA:428 |
Congenital Enterovirus Infection |
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Myocarditis, Hyperammonemia, Cardiomyopathy, Irritability, Hypoalbuminemia, Hypotension |
ORPHA:292 |
Late-Onset Familial Hypoaldosteronism |
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Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level, Hypotension |
ORPHA:556037 |
Cocaine Intoxication |
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Prolonged QT interval, Tachycardia, Prolonged QRS complex, Elevated circulating creatine kinase c... |
ORPHA:90068 |
Cardiomyopathy, Familial Restrictive, 3 |
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Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... |
OMIM:612422 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
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Hyponatremia, Hypotension |
ORPHA:91354 |
Early-Onset Familial Hypoaldosteronism |
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Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level, Hypotension |
ORPHA:556030 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension |
OMIM:203400 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
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Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension |
OMIM:620125 |
46,Xy Sex Reversal 4 |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:154230 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Hypotension |
OMIM:264350 |
Neuroendocrine Tumor Of Stomach |
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Tricuspid regurgitation, Anorexia, Right ventricular failure, Hematemesis, Melena, Palpitations, ... |
ORPHA:100075 |
Familial Glucocorticoid Deficiency |
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Hyponatremia, Anorexia, Cryptorchidism, Hyperkalemia, Testicular adrenal rest tumor, Azoospermia,... |
ORPHA:361 |
Acute Liver Failure |
|
Gastrointestinal hemorrhage, Shock, Pain insensitivity, Ataxia, Confusion, Hyperammonemia, Depres... |
ORPHA:90062 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension |
OMIM:177735 |
Dengue Fever |
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Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Hypotension, Hypoproteinemia |
ORPHA:99828 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Hyperactivity, Cardiac conduction abnormality, Aggressive behavior, Impulsivity, Abnormal fear-in... |
ORPHA:353281 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Short attention span, Pain insensitivity, Somatic sensory dysfunction, Nail-biting, Hyperactivity... |
ORPHA:642 |
Colchicine Poisoning |
|
Hyponatremia, Myocarditis, Congestive heart failure, Hypovolemia, Abnormal blood ion concentratio... |
ORPHA:31824 |
Chromosome 5Q12 Deletion Syndrome |
|
Hypotension |
OMIM:615668 |
Adult Acute Respiratory Distress Syndrome |
|
Shock, Vasculitis, Hypotension |
ORPHA:70578 |
Lujo Hemorrhagic Fever |
|
Shock, Confusion, Elevated circulating C-reactive protein concentration, Myocarditis, Subconjunct... |
ORPHA:319213 |
Legius Syndrome |
|
Short attention span, Hyperactivity, Paroxysmal atrial tachycardia, Chiari type I malformation, A... |
ORPHA:137605 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Bradycardia, Cardiac arrest, Hypotension |
ORPHA:70587 |
Cholera |
|
Hyponatremia, Tachycardia, Abnormal blood ion concentration, Irritability, Hypovolemic shock, Hyp... |
ORPHA:173 |
Aggressive Systemic Mastocytosis |
|
Hypotension, Gastrointestinal hemorrhage, Portal hypertension, Anorexia |
ORPHA:98850 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
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Broad-based gait, Hyperactivity, Ataxia, Aggressive behavior, Unsteady gait, Dysmetria, Gait atax... |
OMIM:614756 |
Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Ataxia, Confusion, Sinus tachycardia, Elevated circulating creatine kinase... |
ORPHA:466650 |
Multiple Myeloma |
|
Hyperproteinemia, Elevated circulating creatinine concentration, Paresthesia, Hypercalcemia |
ORPHA:29073 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Elevated circulating creatinine concentration, Systolic heart murmur |
OMIM:617478 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypertension, Hypokalemia, Hypotension |
OMIM:611489 |
Inhalational Anthrax |
|
Internal hemorrhage, Confusion, Hypotension |
ORPHA:247257 |
Senior-Loken Syndrome 1 |
|
Polydipsia, Elevated circulating creatinine concentration |
OMIM:266900 |
Pauci-Immune Glomerulonephritis |
|
Small vessel vasculitis, Elevated circulating creatinine concentration, Arteritis, Pulmonary hemo... |
ORPHA:93126 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Elevated circulating creatine kinase concentration, Anorexia, Abnormal left ... |
ORPHA:99827 |
Yellow Fever |
|
Shock, Elevated circulating creatine kinase concentration, Supraventricular arrhythmia, Hematemes... |
ORPHA:99829 |
Hennekam-Beemer Syndrome |
|
Irritability, Arrhythmia, Telangiectasia of the skin, Hypotension |
ORPHA:2135 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
Post-Traumatic Pituitary Deficiency |
|
Decreased testicular size, Hypotension |
ORPHA:95619 |
Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Hypovolemia, Increased circulating renin lev... |
ORPHA:427 |
Pde4D Haploinsufficiency Syndrome |
|
Cryptorchidism, Hypotension |
ORPHA:439822 |
Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Melena, Mi... |
ORPHA:99147 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Hyperkalemia, Hypotension |
ORPHA:199296 |
Necrotizing Enterocolitis |
|
Shock, Hyponatremia, Bradycardia, Hypotension |
ORPHA:391673 |
Acute Radiation Syndrome |
|
Hypotension, Telangiectasia |
ORPHA:454831 |
Systemic Capillary Leak Syndrome |
|
Myocarditis, Pericarditis, Arrhythmia, Hypotension |
ORPHA:188 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... |
OMIM:261740 |
Aa Amyloidosis |
|
Hypotension |
ORPHA:85445 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Cardiac conduction abnormality, Aggressive behavior, Impulsivity, Abnormal fear-in... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Cardiac conduction abnormality, Aggressive behavior, Impulsivity, Abnormal fear-in... |
ORPHA:353277 |
Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... |
ORPHA:95459 |
Scrub Typhus |
|
Myocarditis, Hypotension |
ORPHA:83317 |
Pituitary Apoplexy |
|
Hyponatremia, Hypertension, Confusion, Hypotension |
ORPHA:95613 |
Erythrocytosis, Familial, 2 |
|
Hypotension, Pulmonary arterial hypertension, Cerebral hemorrhage |
OMIM:263400 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Hypotension |
ORPHA:79456 |
Hereditary Angioedema Type 1 |
|
Paresthesia, Hypotension, Dysphagia |
ORPHA:100050 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Cryptorchidism, Hyperkalemia, Azoospermia, Increased circulating renin level, Hypot... |
ORPHA:90791 |
Igg4-Related Kidney Disease |
|
Pericarditis, Elevated circulating C-reactive protein concentration, Elevated circulating creatin... |
ORPHA:449395 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Aortic regurgitation, Tricuspid regurgitation, Left-to-right shunt, Cardiac arrest, Portal hypert... |
OMIM:619534 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Elevated circulating C-reactive protein concentration, Anorexia, Elevated circulating creatinine ... |
ORPHA:91500 |
Lysosomal Acid Lipase Deficiency |
|
Psychomotor deterioration, Hyponatremia, Hypertriglyceridemia, Hypercholesterolemia, Hypovolemia,... |
ORPHA:275761 |
Sepsis In Premature Infants |
|
Tachycardia, Elevated circulating C-reactive protein concentration, Bradycardia, Hypotension |
ORPHA:90051 |
Ileal Neuroendocrine Tumor |
|
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Palpitations, Hypotension, Pul... |
ORPHA:100078 |
Non-Functioning Pituitary Adenoma |
|
Macroorchidism, Macroorchidism, postpubertal, Hypotension |
ORPHA:91349 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Cryptorchidism, Hypovolemia, Hyperkalemia, Abnormal circulating cholesterol concent... |
ORPHA:168558 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Cryptorchidism, Hypovolemia, Hyperkalemia, Abnormal circulating cholesterol concent... |
ORPHA:289548 |
Renal Tubular Dysgenesis |
|
Hypotension |
OMIM:267430 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Tachycardia, Syncope, Hypotension |
ORPHA:98849 |
Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Hypokalemia, Increased circulating renin level, Hypotension |
OMIM:607364 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Poorly formed metencephalon, Cerebellar dysplasia |
OMIM:601374 |
Neuroendocrine Neoplasm Of Appendix |
|
Tricuspid stenosis, Anorexia, Heart murmur, Palpitations, Hypotension |
ORPHA:100079 |
Plague |
|
Tachycardia, Anorexia, Hematemesis, Unsteady gait, Depression, Hypotension, Arrhythmia, Delirium |
ORPHA:707 |
Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Congestive heart failure, Hypertension, Hypokalemia, Palpitations, H... |
ORPHA:91347 |
Leptospirosis |
|
Pericarditis, First degree atrioventricular block, Anorexia, Retinal hemorrhage, Subconjunctival ... |
ORPHA:509 |
Prolactinoma |
|
Hypotension |
ORPHA:2965 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Hyperkalemia, Hypotension |
ORPHA:293978 |
Hellp Syndrome |
|
Cerebral hemorrhage, Internal hemorrhage, Hypotension |
ORPHA:244242 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Shock, Hyponatremia, Hypovolemia, Testicular adrenal rest tumor, Hyperkalemia, Hypochloremia, Hyp... |
ORPHA:90794 |
Non-Acquired Panhypopituitarism |
|
Decreased testicular size, Hypotension |
ORPHA:90695 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Decreased testicular size, Hypotension |
ORPHA:95494 |
Cataract 30, Multiple Types |
|
|
OMIM:116300 |