Carbimazole Sensitivity |
|
Drug-induced agranulocytosis |
OMIM:212060 |
Lactic Acidosis, Chronic Adult Form |
|
Hyperuricemia |
OMIM:150170 |
Azotemia, Familial |
|
Azotemia |
OMIM:109160 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Anemia, Hyperuricemia |
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 |
Lesch-Nyhan Syndrome |
|
Anemia, Hyperuricemia |
ORPHA:510 |
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase |
|
Hyperuricemia |
OMIM:240000 |
Glycogen Storage Disease Vii |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic anemia, Increased total bilir... |
OMIM:232800 |
Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Microcephaly, Seizures, And Developmental Delay |
|
Simplified gyral pattern, Ataxia, Hyperactivity, Cerebellar atrophy |
OMIM:613402 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Hyperuricemia, Neutropenia |
OMIM:617056 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Anemia, Hyperuricemia |
OMIM:613092 |
Hypouricemia, Renal, 2 |
|
Hypouricemia |
OMIM:612076 |
Spinocerebellar Ataxia 14 |
|
Impaired vibration sensation at ankles, Progressive cerebellar ataxia, Dysmetria, Depression, Men... |
OMIM:605361 |
Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia |
OMIM:242050 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
Burkitt Lymphoma |
|
Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen, Hyperuricemia |
ORPHA:543 |
Glycogen Storage Disease V |
|
Elevated circulating creatine kinase concentration, Hyperuricemia |
OMIM:232600 |
Xanthinuria, Type Ii |
|
Hyperxanthinemia, Increased circulating hypoxanthine concentration, Hypouricemia |
OMIM:603592 |
Juvenile Huntington Disease |
|
Broad-based gait, Ataxia, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Hyperactivity... |
ORPHA:248111 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Hyperuricemia |
OMIM:162000 |
Hyperuricemia, Hprt-Related |
|
Hyperuricemia |
OMIM:300323 |
Hyperuricemic Nephropathy, Familial Juvenile, 3 |
|
Hyperuricemia |
OMIM:614227 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Hyperactivity, Dysmetria, Gait disturbance, Cerebellar atrophy |
OMIM:618090 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hypomagnesemia, Leukopenia, Hyponatremia, Hyperuricemia, Anemia, Thrombocytopenia |
OMIM:613845 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Gray matter heterotopia, Hyperactivity, Impulsivity, Polymicrogyria, Lissencephaly, Aggressive be... |
OMIM:604317 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hyperuricemia |
ORPHA:3222 |
Cystinuria |
|
Hyperuricemia |
ORPHA:214 |
Chudley-Mccullough Syndrome |
|
Gray matter heterotopia, Cerebellar dysplasia, Cerebellar hypoplasia, Polymicrogyria |
OMIM:604213 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Decreased plasma carnitine, Anemia, Hyperuricemia, Hyperammonemia |
OMIM:246450 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Ataxia, Self-injurious behavior, Hyperactivity, Anxiety, Elevated circulating gamma-aminobutyric ... |
OMIM:271980 |
Aminoacylase 1 Deficiency |
|
Hyperactivity, Cerebral atrophy, Cerebellar atrophy |
OMIM:609924 |
Cln5 Disease |
|
Ataxia, Cerebral cortical atrophy, Atrophy/Degeneration affecting the central nervous system, Hyp... |
ORPHA:228360 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Abnormal left ventricular function, Inability to walk, Elevated circulating creatine kinase conce... |
OMIM:613155 |
Juvenile Paget Disease |
|
Hyperuricemia |
ORPHA:2801 |
Hyperprolinemia, Type I |
|
Hydroxyprolinuria, Prolinuria, Ataxia, Hyperglycinuria, Hyperactivity, Hyperprolinemia, Aggressiv... |
OMIM:239500 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperuricemia |
OMIM:604367 |
Coach Syndrome 2 |
|
Hypertension, Cerebellar vermis hypoplasia, Elevated circulating creatinine concentration |
OMIM:619111 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Morgagni-Stewart-Morel Syndrome |
|
Hyperuricemia, Hypercholesterolemia |
ORPHA:77296 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Elongated superior cerebellar peduncle, Ataxia, Cognitive impairment, Elevated circulating creati... |
ORPHA:370022 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hyperuricemia |
ORPHA:411536 |
Renal Failure, Progressive, With Hypertension |
|
Hypertension, Elevated circulating creatinine concentration |
OMIM:161900 |
Distal 16P11.2 Microdeletion Syndrome |
|
Hyperuricemia |
ORPHA:261222 |
Xq25 Microduplication Syndrome |
|
Anxiety, Hyperactivity, Cerebellar hypoplasia |
ORPHA:521258 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Elevated circulating creatinine concentration, Hyperuricemia |
ORPHA:79233 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Neuronal loss in central nervous system, Ataxia, Hyperactivity, Cerebral atrophy, Mental deterior... |
OMIM:615924 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Perisylvian polymicrogyria, Cerebellar vermis hypoplasia, Cerebellar dysplasia, Cerebellar hypopl... |
OMIM:616531 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Type II lissencephaly, Cerebellar dysplasia |
OMIM:615041 |
Medullary cystic kidney disease 2 |
|
Hyperuricemia |
OMIM:603860 |
Purine Nucleoside Phosphorylase Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegaly, Increased circul... |
OMIM:613179 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Apathy, Raynaud phenomenon, Depression, Hypertension, Cognitive impairment, Anxiety, Retinal neov... |
ORPHA:247691 |
Beta-Ketothiolase Deficiency |
|
Thrombocytosis, Leukocytosis, Hyperuricemia, Hyperammonemia |
ORPHA:134 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Diffuse cerebellar atrophy, Cerebral cortical atrophy, Ataxia, Dysmetria, Depression, Anxiety, Hy... |
ORPHA:93256 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperuricemia, Splenomegaly |
ORPHA:79083 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Pachygyria, Elevated circulating creatine kinase concentration, Hypoplasia of the pons, Cerebella... |
OMIM:613153 |
Landau-Kleffner Syndrome |
|
Social and occupational deterioration, Impulsivity, Hyperactivity, Depression, Anxiety, Memory im... |
ORPHA:98818 |
Optic Atrophy 11 |
|
Ataxia, Hyperactivity, Brain atrophy, Dysmetria, Cerebellar hypoplasia |
OMIM:617302 |
Combined Deficiency Of Factor V And Factor Viii |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
Purine Nucleoside Phosphorylase Deficiency |
|
Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal T cell morphology... |
ORPHA:760 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Gliosis, Self-mutilation, Depression, Anxiety, Gait disturbance, Myocardial infarction, Cerebella... |
ORPHA:457240 |
Hypouricemia, Renal, 1 |
|
Hypouricemia |
OMIM:220150 |
Chromosome Xq25 Duplication Syndrome |
|
Anxiety, Hyperactivity, Cerebellar hypoplasia |
OMIM:300979 |
Bilateral Frontoparietal Polymicrogyria |
|
Gait imbalance, Abnormal cerebellum morphology, Hypoplasia of the pons, Cerebellar vermis hypopla... |
ORPHA:101070 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Leukocytosis, Hyperammonemia, Leukopenia, Thrombocytosis, Hyperuricemia, Anemia |
ORPHA:20 |
Lesch-Nyhan Syndrome |
|
Megaloblastic anemia, Hyperuricemia |
OMIM:300322 |
Gomez-Lopez-Hernandez Syndrome |
|
Ataxia, Self-injurious behavior, Hyperactivity, Cognitive impairment, Depression, Rhombencephalos... |
OMIM:601853 |
Preeclampsia |
|
Hypertension, Elevated systolic blood pressure, Elevated circulating creatinine concentration, El... |
ORPHA:275555 |
Late-Onset Isolated Acth Deficiency |
|
Eosinophilia, Normocytic anemia, Macrocytic anemia, Hyponatremia, Hypercalcemia, Hyperuricemia |
ORPHA:199299 |
Neuroleptic Malignant Syndrome |
|
Hypomagnesemia, Hypocalcemia, Leukocytosis, Elevated circulating creatine kinase concentration, H... |
ORPHA:94093 |
Infantile Neuroaxonal Dystrophy |
|
Ataxia, Impulsivity, Hyperactivity, Cerebellar gliosis, Mental deterioration, Gait disturbance, P... |
ORPHA:35069 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Ataxia, Cerebral cortical atrophy, Hyperactivity, Aggressive behavior |
OMIM:300983 |
Developmental And Epileptic Encephalopathy 43 |
|
Attention deficit hyperactivity disorder, Ataxia, Impulsivity, Hyperactivity |
OMIM:617113 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Inability to walk, Hyperactivity, Cerebral atrophy, Mental deterioration, Anxiety, Corpus... |
ORPHA:168491 |
Hirsutism, Skeletal Dysplasia, And Mental Retardation |
|
Hyperuricemia |
OMIM:142625 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Anemia, Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:174000 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Neonatal hyperbilirubinemia, Hyperalaninemia, Hyperuricemia |
ORPHA:348 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Ataxia, Cerebellar vermis atrophy, Hyperactivity, Progressive language deterioration, Self-mutila... |
ORPHA:163681 |
Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Hyperactivity, Impulsivity, Cerebral atrophy, Depression, Chorea, Polymicrogyria |
ORPHA:88616 |
Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hyperuricemia |
ORPHA:411543 |
Gaisböck Syndrome |
|
Increased hematocrit, Hyperproteinemia, Elevated plasma cell count, Increased circulating renin l... |
ORPHA:90041 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Elevated circulating creatine kinase concentration, Hypoplasia of the pons, Cerebellar hypoplasia... |
OMIM:615181 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Cerebral cortical atrophy, Hyperactivity, Brain atrophy, Corpus callosum atrophy, Aggressive beha... |
ORPHA:369939 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Hypertension, Elevated circulating creatinine concentration |
ORPHA:567544 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Neuronal loss in central nervous system, Ataxia, Hyperactivity, Cerebral atrophy, Progressive psy... |
ORPHA:363400 |
Ataxia-Telangiectasia-Like Disorder 1 |
|
Dysdiadochokinesis, Chorea, Gait ataxia, Cerebellar atrophy, Telangiectasia |
OMIM:604391 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia |
OMIM:239000 |
Glycogen Storage Disease Ib |
|
Hyperlipidemia, Neutropenia, Hyperuricemia, Splenomegaly |
OMIM:232220 |
Glycine Encephalopathy |
|
Hyperglycinuria, Impulsivity, Hyperactivity, Hyperglycinemia, Aggressive behavior, Irritability |
OMIM:605899 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Broad-based gait, Abnormal fear/anxiety-related behavior, Hyperactivity, Shuffling gait, Aggressi... |
ORPHA:3077 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Ataxia, Elevated circulating guanidinoacetic acid concentration, Aggr... |
OMIM:612736 |
Myopathy With Extrapyramidal Signs |
|
Extremely elevated creatine kinase, Perisylvian polymicrogyria, Ataxia, Hyperlysinemia, Hypervali... |
OMIM:615673 |
Alstrom Syndrome |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperuricemia |
OMIM:203800 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Cerebellar vermis atrophy, Hyperactivity, Polymicrogyria, Gait ataxia, Aggressive behavior, Emoti... |
OMIM:300354 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity, Anxiety, Self-injurious behavior, Aggressive behavior |
OMIM:619031 |
Poretti-Boltshauser Syndrome |
|
Gray matter heterotopia, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Cerebellar dyspl... |
OMIM:615960 |
Lennox-Gastaut Syndrome |
|
Hyperactivity, Mental deterioration, Falls, Aggressive behavior, Personality disorder |
ORPHA:2382 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Self-injurious behavior, Hyperactivity, Inappropriate behavior, Memory impairment, Self-biting, N... |
OMIM:619827 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Impulsivity, Cerebral atrophy, Dysmetria, Hyperactivity, Mental deterioration, Dysdiadochokinesis... |
OMIM:610217 |
Obesity Due To Sim1 Deficiency |
|
Cognitive impairment, Memory impairment, Hypotension, Attention deficit hyperactivity disorder, P... |
ORPHA:369873 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Arrhythmia, Sick sinus syndrome, Attention deficit hyperactivity disorder, Bradyca... |
OMIM:617182 |
Phenylketonuria |
|
Hyperactivity, Self-mutilation, Depression, Anxiety, Maternal hyperphenylalaninemia, Hyperphenyla... |
OMIM:261600 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Hypertension, Elevated circulating creatinine concentration |
OMIM:616733 |
Guanidinoacetate Methyltransferase Deficiency |
|
Ataxia, Self-injurious behavior, Hyperactivity, Chorea, Athetosis, Aggressive behavior |
ORPHA:382 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Cerebral cortical atrophy, Self-injurious behavior, Progressive cerebellar ataxia, Hyperactivity,... |
ORPHA:485350 |
Adenylosuccinase Deficiency |
|
Happy demeanor, Inability to walk, Hyperactivity, Cerebral atrophy, Self-mutilation, Gait ataxia,... |
OMIM:103050 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Ataxia, Hyperactivity, Emotional lability, Simplified gyral pattern, Enlarged cerebellum |
OMIM:620047 |
Acute Adrenal Insufficiency |
|
Normocytic anemia, Increased circulating renin level, Hyponatremia, Hyperuricemia, Hypercalcemia,... |
ORPHA:95409 |
Cardiogenic Shock |
|
Abnormal left ventricular function, Low pulse pressure, Increased pulmonary capillary wedge press... |
ORPHA:97292 |
Hereditary Fructose Intolerance |
|
Hypophosphatemia, Hyperuricemia, Hypermagnesemia |
ORPHA:469 |
Aapoaiv Amyloidosis |
|
Sinus bradycardia, Left bundle branch block, Hyperlipidemia, Left ventricular outflow tract obstr... |
ORPHA:439232 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Inability to walk, Impulsivity, Cerebral atrophy, Hyperactivity, Chorea, Gait ataxia, Aggressive ... |
ORPHA:500180 |
C3 Glomerulopathy |
|
Hypertension, Elevated circulating creatinine concentration |
ORPHA:329918 |
Rasmussen Subacute Encephalitis |
|
Inability to walk, Hyperactivity, Cerebral cortical hemiatrophy, Cognitive impairment, Memory imp... |
ORPHA:1929 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hyperlipidemia, Abnormal myeloid leukocyte morphology, Hypertriglyceridemia, Chronic neutropenia,... |
ORPHA:79259 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Hyperactivity, Dilated fourth ventricle, Cerebellar hypoplasia, Dysgenesis of the cerebellar verm... |
OMIM:617751 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Ataxia, Conjunctival telangiectasia, Neurodegeneration, Unsteady gait, Cerebellar atrophy, Telang... |
OMIM:615919 |
3-Methylglutaconic Aciduria, Type Iv |
|
Cerebellar dysplasia |
OMIM:250951 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Retrocerebellar cyst, Self-mutilation, Cerebellar hypoplasia, Cerebellar vermis hy... |
OMIM:300486 |
Molybdenum Cofactor Deficiency, Complementation Group C |
|
Hypertaurinemia, Hypocystinemia, Hypouricemia |
OMIM:615501 |
Thrombotic Thrombocytopenic Purpura |
|
Myocardial infarction, Decreased serum creatinine, Arrhythmia |
ORPHA:54057 |
Glycogen Storage Disease Ia |
|
Hyperlipidemia, Hyperuricemia |
OMIM:232200 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hyperbilirubinemia, Tachycardia, Arrhythmia, Hypotension, Elevated circulating creatinine concent... |
ORPHA:542323 |
Addison Disease |
|
Normocytic anemia, Increased circulating renin level, Hyponatremia, Hyperuricemia, Hypercalcemia,... |
ORPHA:85138 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Hyperactivity, Transient hyperphenylalaninemia, Choreoathetosis, Aggressive behavior |
OMIM:612716 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity, Cerebral cortical atrophy, Impulsivity |
OMIM:301008 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Hypophosphatemia, Hypokalemia |
OMIM:227810 |
Hypomagnesemia 3, Renal |
|
Hypomagnesemia, Hyperuricemia |
OMIM:248250 |
Relapsing Fever |
|
Elevated circulating C-reactive protein concentration, Tachycardia, Hypotension, Increased total ... |
ORPHA:91547 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Broad-based gait, Happy demeanor, Ataxia, Hyperactivity, Inappropriate laughter |
ORPHA:411515 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated circulating long chain fatty acid concentration, Hyperammonemia, Elevated circulating cr... |
OMIM:608836 |
Papillorenal Syndrome |
|
Gliosis, Hypertension, Chiari type I malformation, Elevated circulating creatinine concentration |
OMIM:120330 |
Lethal Ataxia With Deafness And Optic Atrophy |
|
Abnormal erythrocyte enzyme level, Hypouricemia |
ORPHA:1187 |
Perry Syndrome |
|
Depression, Apathy, Hypotension, Dementia |
ORPHA:178509 |
Hereditary Renal Hypouricemia |
|
Increased blood urea nitrogen, Hypouricemia |
ORPHA:94088 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Elevated systolic blood pressure, Decreased serum creatinine, Hyponatremia, Decreased circulating... |
OMIM:300539 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hyperuricemia |
OMIM:300661 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypophosphatemia, Hypouricemia |
OMIM:616026 |
Hereditary Xanthinuria |
|
Hyperxanthinemia, Hypouricemia |
ORPHA:3467 |
X-Linked Adrenoleukodystrophy |
|
Inappropriate sexual behavior, Hyperactivity, Cognitive impairment, Gait disturbance, Somatic sen... |
ORPHA:43 |
Familial Osteodysplasia, Anderson Type |
|
Hyperuricemia |
ORPHA:2769 |
47,Xyy Syndrome |
|
Impulsivity, Hyperactivity, Oligospermia, Dysgenesis of the cerebellar vermis, Attention deficit ... |
ORPHA:8 |
Nephronophthisis 2 |
|
Pulmonary insufficiency, Elevated circulating creatinine concentration, Hyperkalemia, Hypertension |
OMIM:602088 |
Joubert Syndrome 23 |
|
Cerebellar dysplasia |
OMIM:616490 |
Argininemia |
|
Hyperactivity, Hyperammonemia, Hyperargininemia, Diaminoaciduria, Cerebellar atrophy, Spastic gai... |
OMIM:207800 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Increased blood urea nitrogen, Orthostatic hypotension, Tachycardia, Elevated circulating creatin... |
OMIM:223900 |
Fructose Intolerance, Hereditary |
|
Bicarbonaturia, Hypophosphatemia, Hyperbilirubinemia, Hyperuricemia |
OMIM:229600 |
Glycogen Storage Disease Ic |
|
Hyperlipidemia, Hyperuricemia |
OMIM:232240 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Increased blood urea nitrogen, Cognitive impairment, Elevated circulating creatin... |
OMIM:235400 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Abnormal cardiovascular system physiology, Decreased serum creatinine, Arterial occlusion |
ORPHA:289601 |
Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Ataxia, Impulsivity, Frontal cortical atrophy, Hyperactivity, Pulmonic stenosis, Anxiety, Aggress... |
OMIM:616977 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased serum creatinine, Hypocystinemia |
OMIM:617744 |
Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration |
OMIM:619468 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Pulmonic stenosis, Anxiety, Chorea, Heart murmur, Attention deficit hyperactivity ... |
OMIM:617600 |
Renal Cysts And Diabetes Syndrome |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:137920 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Hyperuricemia |
ORPHA:93111 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Abnormal pons morphology, Hyperactivity, Aggressive behavior |
ORPHA:85327 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Irritability, Premature ventricular contraction, Hyperammonemia, Elevated circulating creatine ki... |
OMIM:212138 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Hypotens... |
OMIM:616000 |
Cockayne Syndrome |
|
Hyperuricemia, Splenomegaly |
ORPHA:191 |
Bacterial Toxic-Shock Syndrome |
|
Hypocalcemia, Elevated circulating creatine kinase concentration, Tachycardia, Myocarditis, Hypot... |
ORPHA:36234 |
Wilson Disease |
|
Increased circulating copper concentration, Hyperbilirubinemia, Splenomegaly, Hypouricemia, Hemol... |
OMIM:277900 |
Interstitial Nephritis, Karyomegalic |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein AI concentration, Decreased HDL cholesterol concentration, O... |
ORPHA:85450 |
Dopamine Beta-Hydroxylase Deficiency |
|
Increased blood urea nitrogen, Orthostatic hypotension, Syncope, Orthostatic syncope, Elevated ci... |
ORPHA:230 |
Acute Interstitial Pneumonia |
|
Hypertension, Elevated circulating creatinine concentration, Elevated circulating C-reactive prot... |
ORPHA:79126 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Hypoalbuminemia |
OMIM:608104 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Hypertension, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612922 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Elevated alpha-fetoprotein, Hypertension, Elevated circulating creatinine concentration, Hypokalemia |
OMIM:613095 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Hypertension, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Hypertension, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Hypertension, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612926 |
Tubulointerstitial Nephritis With Uveitis |
|
Elevated circulating creatinine concentration |
OMIM:607665 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Hypertension, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612925 |
Tako-Tsubo Cardiomyopathy |
|
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Abnormal B-type natr... |
ORPHA:66529 |
Eisenmenger Syndrome |
|
Increased mean corpuscular volume, Elevated circulating C-reactive protein concentration, Brain a... |
ORPHA:97214 |
Diffuse Alveolar Hemorrhage |
|
Pulmonary venous hypertension, Elevated circulating creatinine concentration |
ORPHA:90060 |
Marburg Hemorrhagic Fever |
|
Hypokalemia, Hyperammonemia, Hypovolemia, Elevated circulating creatine kinase concentration, Tac... |
ORPHA:99826 |
Juvenile Nephropathic Cystinosis |
|
Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypocalcemic tetany, Elevated circulating creatinine... |
ORPHA:411634 |
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A |
|
Hypotension |
OMIM:156310 |
Crome Syndrome |
|
Cerebellar dysplasia |
OMIM:218900 |
Hemorrhagic Fever-Renal Syndrome |
|
Melena, Hematemesis, Palpitations, Tachycardia, Intracranial hemorrhage, Hypotension, Shock, Elev... |
ORPHA:340 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Myocardial infarction, Transient ischemic attack, Elevated circulating creatinine concentration, ... |
OMIM:274150 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Hypouricemia |
OMIM:252160 |
X-Linked Creatine Transporter Deficiency |
|
Ataxia, Hyperactivity, Self-mutilation, Chorea, Athetosis, Abnormal circulating creatine concentr... |
ORPHA:52503 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Ataxia, Inability to walk, Hyperactivity, Abnormal circulating fatty-acid concentration, Dysmetri... |
ORPHA:139396 |
Cryoglobulinemia, Familial Mixed |
|
Hypertension, Elevated circulating creatinine concentration |
OMIM:123550 |
Renal Tubular Acidosis, Distal, 1 |
|
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia |
OMIM:179800 |
Igg4-Related Retroperitoneal Fibrosis |
|
Budd-Chiari syndrome, Elevated circulating C-reactive protein concentration, Increased blood urea... |
ORPHA:49041 |
Cutaneous Mastocytoma |
|
Telangiectasia macularis eruptiva perstans, Telangiectasia of the skin, Hypotension |
ORPHA:79455 |
Pitt-Hopkins-Like Syndrome 1 |
|
Ataxia, Hyperactivity, Aggressive behavior, Progressive language deterioration |
OMIM:610042 |
Meningococcal Meningitis |
|
Elevated circulating C-reactive protein concentration, Hypotension, Shock, Paresthesia, Irritability |
ORPHA:33475 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Elevated circulating creatinine concentration |
OMIM:614376 |
Fanconi Renotubular Syndrome 3 |
|
Elevated circulating creatinine concentration, Aminoaciduria |
OMIM:615605 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hypokalemia, Myocardial infarction, Elevated circulating creatinine concentration, Unconjugated h... |
ORPHA:90038 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated circulating acylcarnitine concentration, Hyperammonemia, Elevated creatine kinase after ... |
ORPHA:159 |
Chromosome 5Q12 Deletion Syndrome |
|
Hypotension |
OMIM:615668 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Self-injurious behavior, Hyperactivity, Depression, Anxiety, Attention deficit hyperactivity diso... |
ORPHA:449291 |
Snakebite Envenomation |
|
Intracranial hemorrhage, Tachycardia, Cardiogenic shock, Hypotension, Cerebral ischemia, Myocardi... |
ORPHA:449285 |
Joubert Syndrome 1 |
|
Elongated superior cerebellar peduncle, Ataxia, Hyperactivity, Self-mutilation, Dysgenesis of the... |
OMIM:213300 |
Mucopolysaccharidosis, Type Iiib |
|
Asymmetric septal hypertrophy, Hyperactivity, Aggressive behavior, Progressive neurologic deterio... |
OMIM:252920 |
Sickle Cell Anemia |
|
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia |
ORPHA:232 |
Whipple Disease |
|
Ataxia, Depression, Myocarditis, Hypotension, Myocardial infarction, Hyponatremia, Gastrointestin... |
ORPHA:3452 |
Autosomal Dominant Hypocalcemia |
|
Hypomagnesemia, Hypocalcemia, Depression, Anxiety, Arrhythmia, Hypotension, Hyperphosphatemia, Em... |
ORPHA:428 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hyperlipidemia, Hyperactivity, Hypoproteinemia, Decreased HDL cholesterol c... |
ORPHA:247585 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Hypouricemia |
OMIM:252150 |
Autosomal Dominant Polycystic Kidney Disease |
|
Hypertension, Elevated circulating creatinine concentration, Reduced sperm motility |
ORPHA:730 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Pachygyria, Elevated circulating creatine kinase concentration, Cerebellar hypoplasia, Partial ab... |
OMIM:613150 |
Primary Fanconi Renotubular Syndrome |
|
Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Decreased plasma carnitine, Bicarbonatur... |
ORPHA:3337 |
Choreoacanthocytosis |
|
Frontal cortical atrophy, Mental deterioration, Chorea, Falls, Emotional lability, Bradyphrenia, ... |
ORPHA:2388 |
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Hypotension, Unsteady gait |
OMIM:618480 |
Adenine Phosphoribosyltransferase Deficiency |
|
Elevated circulating creatinine concentration |
OMIM:614723 |
Serotonin Syndrome |
|
Mental deterioration, Anxiety, Tachycardia, Hypotension, Hypertension, Irritability |
ORPHA:43116 |
Legius Syndrome |
|
Hyperactivity, Cognitive impairment, Pulmonic stenosis, Paroxysmal atrial tachycardia, Attention ... |
ORPHA:137605 |
Congenital Hypothyroidism |
|
Depression, Anxiety, Arrhythmia, Hypotension, Paresthesia, Hypertension |
ORPHA:442 |
Ethylene Glycol Poisoning |
|
Ataxia, Hypocalcemia, Euphoria, Tachycardia, Hypotension, Shock, Hypertension, Atrial fibrillatio... |
ORPHA:31826 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Hypotension, Hyperphosphatemia, ... |
OMIM:145600 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Hypotriglyceridemia, Decreased HDL cholesterol concentration, Decreased serum creatinine |
OMIM:618885 |
Congenital Enterovirus Infection |
|
Hyperammonemia, Myocarditis, Hypotension, Hypoalbuminemia, Cardiomyopathy, Irritability |
ORPHA:292 |
Oligomeganephronia |
|
Hypertension, Elevated circulating creatinine concentration |
ORPHA:2260 |
Poliomyelitis |
|
Inability to walk, Hypovolemic shock, Low self esteem, Hypotension, Paresthesia, Hypertension, Ir... |
ORPHA:2912 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Pain insensitivity, Hyperactivity, Self-mutilation, Postural hypotension with compensatory tachyc... |
OMIM:256800 |
Legionnaires Disease |
|
Ataxia, Arrhythmia, Myocarditis, Hypotension, Hyponatremia, Pericarditis |
ORPHA:549 |
Mastocytosis |
|
Telangiectasia of the skin, Arrhythmia, Hypotension, Hypercalcemia, Gastrointestinal hemorrhage, ... |
ORPHA:98292 |
Late-Onset Familial Hypoaldosteronism |
|
Orthostatic hypotension, Hypotension, Increased circulating renin level, Hyponatremia, Hyperkalemia |
ORPHA:556037 |
Early-Onset Familial Hypoaldosteronism |
|
Orthostatic hypotension, Hypotension, Increased circulating renin level, Hyponatremia, Hyperkalemia |
ORPHA:556030 |
Alexander Disease |
|
Ataxia, Self-injurious behavior, Depression, Sudden cardiac death, Chorea, Hypotension, Gait dist... |
ORPHA:58 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hypotension, Hyperkalemia, Increased circulating renin level |
OMIM:203400 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Hypotension, Athetosis, Choreoathetosis, Emotional lability, Irritability |
OMIM:608643 |
46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:154230 |
Nipah Virus Disease |
|
Hypotension |
ORPHA:99825 |
Early Infantile Epileptic Encephalopathy |
|
Self-injurious behavior, Hyperactivity, Diffuse cerebral atrophy, Choreoathetosis, Cerebellar atr... |
ORPHA:1934 |
Neuroendocrine Tumor Of The Colon |
|
Melena, Tricuspid regurgitation, Right ventricular failure, Palpitations, Hypotension, Facial tel... |
ORPHA:100080 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hypotension, Hyponatremia |
ORPHA:91354 |
Gitelman Syndrome |
|
Ataxia, Hypokalemia, Hypomagnesemia, Palpitations, Increased circulating renin level, Hypotension... |
OMIM:263800 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Ataxia, Akinesia, Hyperactivity, Depression, Mental deterioration, Neurodegeneration, Gait distur... |
OMIM:234200 |
Dengue Fever |
|
Cerebral hemorrhage, Hypoproteinemia, Hypotension, Gastrointestinal hemorrhage, Epistaxis |
ORPHA:99828 |
Colchicine Poisoning |
|
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypovolemia, Arrhythmia, Cardiogenic... |
ORPHA:31824 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Elevated circulating creatine kinase concentration, Cerebellar hypoplasia, Polymicrogyria, Type I... |
OMIM:236670 |
Neuroendocrine Tumor Of The Rectum |
|
Melena, Tricuspid regurgitation, Right ventricular failure, Palpitations, Hypotension, Hematochez... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Melena, Tricuspid regurgitation, Right ventricular failure, Palpitations, Hypotension, Hematochez... |
ORPHA:100082 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Systolic heart murmur, Elevated circulating creatinine concentration |
OMIM:617478 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hypotension, Hyperkalemia, Increased circulating renin level |
OMIM:177735 |
Bilateral Perisylvian Polymicrogyria |
|
Bilateral perisylvian polymicrogyria, Dysmetria, Cerebellar vermis hypoplasia, Cerebellar dysplas... |
ORPHA:98889 |
Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Hypotension, Hyperkalemia, Hyponatremia |
OMIM:264350 |
Cholera |
|
Hypokalemia, Hypocalcemia, Hypovolemic shock, Tachycardia, Hypotension, Abnormal blood ion concen... |
ORPHA:173 |
Bronchial Neuroendocrine Tumor |
|
Tricuspid regurgitation, Right ventricular failure, Palpitations, Cardiogenic shock, Hypotension,... |
ORPHA:97287 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Cardiac arrest, Hypotension, Bradycardia |
ORPHA:70587 |
Adult Acute Respiratory Distress Syndrome |
|
Vasculitis, Shock, Hypotension |
ORPHA:70578 |
Pauci-Immune Glomerulonephritis |
|
Arteritis, Pulmonary hemorrhage, Elevated circulating creatinine concentration, Small vessel vasc... |
ORPHA:93126 |
Multiple Myeloma |
|
Paresthesia, Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia |
ORPHA:29073 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Pain insensitivity, Impulsivity, Hyperactivity, Trophic limb changes, Self-mutilation, Abnormal e... |
ORPHA:642 |
Yellow Fever |
|
Supraventricular arrhythmia, Hyperbilirubinemia, Hematemesis, Elevated circulating creatine kinas... |
ORPHA:99829 |
Lujo Hemorrhagic Fever |
|
Elevated circulating C-reactive protein concentration, Mental deterioration, Anxiety, Myocarditis... |
ORPHA:319213 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Broad-based gait, Ataxia, Cerebral cortical atrophy, Hyperactivity, Dysmetria, Hippocampal atroph... |
OMIM:614756 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
Hydroxykynureninuria |
|
Tachycardia, Hypotension, Abnormal circulating tryptophan concentration |
ORPHA:79155 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypertension, Hypotension |
OMIM:611489 |
Hennekam-Beemer Syndrome |
|
Telangiectasia of the skin, Hypotension, Arrhythmia, Irritability |
ORPHA:2135 |
Infant Botulism |
|
Hypotension, Cardiac arrest, Hypertension, Hyponatremia |
ORPHA:178478 |
Familial Hypoaldosteronism |
|
Orthostatic hypotension, Hypovolemia, Increased circulating renin level, Hypotension, Hyponatremi... |
ORPHA:427 |
Mercury Poisoning |
|
Hypertension, Hypokalemia, Tachycardia, Hypotension |
ORPHA:330021 |
Acquired Von Willebrand Syndrome |
|
Joint hemorrhage, Melena, Aortic valve stenosis, Pulmonic stenosis, Mitral regurgitation, Intracr... |
ORPHA:99147 |
Staphylococcal Necrotizing Pneumonia |
|
Shock, Elevated circulating C-reactive protein concentration, Hypotension |
ORPHA:36238 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Decreased retinol-binding protein level, P... |
ORPHA:449395 |
Neuroendocrine Tumor Of Stomach |
|
Melena, Hematemesis, Tricuspid regurgitation, Right ventricular failure, Palpitations, Cardiogeni... |
ORPHA:100075 |
Pde4D Haploinsufficiency Syndrome |
|
Hypotension |
ORPHA:439822 |
Necrotizing Enterocolitis |
|
Hypotension, Shock, Hyponatremia, Bradycardia |
ORPHA:391673 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Agoraphobia, Abnormal fear/anxiety-related behavior, Social and occupational deterioration, Impul... |
ORPHA:353281 |
Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Hypotension, Heart murmur, Pulmonary arterial hypert... |
ORPHA:95459 |
Acute Liver Failure |
|
Ataxia, Pain insensitivity, Euphoria, Hyperammonemia, Depression, Intracranial hemorrhage, Hypote... |
ORPHA:90062 |
Cocaine Intoxication |
|
Supraventricular arrhythmia, Prolonged QRS complex, Cerebral hemorrhage, Diffuse alveolar hemorrh... |
ORPHA:90068 |
Systemic Capillary Leak Syndrome |
|
Hypotension, Pericarditis, Arrhythmia, Myocarditis |
ORPHA:188 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Portal hypertension, Hypotension |
ORPHA:98850 |
Post-Traumatic Pituitary Deficiency |
|
Hypotension |
ORPHA:95619 |
Scrub Typhus |
|
Hypotension, Myocarditis |
ORPHA:83317 |
Congenital Isolated Acth Deficiency |
|
Hypotension, Hyponatremia |
ORPHA:199296 |
Aa Amyloidosis |
|
Hypotension |
ORPHA:85445 |
Erythrocytosis, Familial, 2 |
|
Pulmonary arterial hypertension, Cerebral hemorrhage, Hypotension |
OMIM:263400 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Increased circulating ferritin concentration, Hyperbilirubinemia, Tricuspid regurgitation, Left-t... |
OMIM:619534 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Shortened PR interval, Bradycardia, Cardiomyopathy, Congestive heart failure |
OMIM:261740 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Hypotension |
ORPHA:79456 |
Exercise-Induced Malignant Hyperthermia |
|
Ataxia, Hypocalcemia, Abnormal pulse pressure, Abnormal T-wave, ST segment depression, Elevated c... |
ORPHA:466650 |
Familial Glucocorticoid Deficiency |
|
Hypotension, Hyponatremia, Azoospermia, Hypertrophic cardiomyopathy, Hyperkalemia |
ORPHA:361 |
Crimean-Congo Hemorrhagic Fever |
|
Melena, Hemoperitoneum, Subdural hemorrhage, Hemothorax, Myocarditis, Emotional lability, Bundle ... |
ORPHA:99827 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Pachygyria, Elevated circulating creatine kinase concentration, Cerebellar hypoplasia, Polymicrog... |
OMIM:253280 |
Inhalational Anthrax |
|
Internal hemorrhage, Hypotension |
ORPHA:247257 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hypotension, Increased circulating renin level, Hyponatremia, Azoospermia, Hyperkalemia |
ORPHA:90791 |
Lysosomal Acid Lipase Deficiency |
|
Cognitive impairment, Hypovolemia, Hypotension, Hypertriglyceridemia, Psychomotor deterioration, ... |
ORPHA:275761 |
Sepsis In Premature Infants |
|
Tachycardia, Elevated circulating C-reactive protein concentration, Hypotension, Bradycardia |
ORPHA:90051 |
Hepatocellular Carcinoma |
|
Hypokalemia, Budd-Chiari syndrome, Hyperbilirubinemia, Hypotension, Hypoalbuminemia, Hyponatremia... |
ORPHA:88673 |
Senior-Loken Syndrome 1 |
|
Elevated circulating creatinine concentration |
OMIM:266900 |
Ileal Neuroendocrine Tumor |
|
Tricuspid stenosis, Pulmonic stenosis, Right ventricular failure, Palpitations, Arrhythmia, Cardi... |
ORPHA:100078 |
Jejunal Neuroendocrine Tumor |
|
Tricuspid stenosis, Pulmonic stenosis, Right ventricular failure, Palpitations, Arrhythmia, Cardi... |
ORPHA:100077 |
Pituitary Apoplexy |
|
Hypotension, Hypertension, Hyponatremia |
ORPHA:95613 |
Bartter Syndrome, Type 3 |
|
Hypotension, Hypokalemia, Hyperchloriduria, Increased circulating renin level |
OMIM:607364 |
Duodenal Neuroendocrine Tumor |
|
Melena, Hematemesis, Tricuspid stenosis, Pulmonic stenosis, Right ventricular failure, Palpitatio... |
ORPHA:100076 |
Hereditary Angioedema Type 1 |
|
Paresthesia, Hypotension |
ORPHA:100050 |
Renal Tubular Dysgenesis |
|
Hypotension |
OMIM:267430 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Poorly formed metencephalon, Cerebellar dysplasia |
OMIM:601374 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Tachycardia, Hypotension, Syncope |
ORPHA:98849 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hypotension, Hyponatremia |
ORPHA:293978 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... |
ORPHA:91500 |
Non-Functioning Pituitary Adenoma |
|
Hypotension |
ORPHA:91349 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hypovolemia, Increased circulating renin level, Hypotension, Abnormal circulating cholesterol con... |
ORPHA:168558 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hypovolemia, Increased circulating renin level, Hypotension, Abnormal circulating cholesterol con... |
ORPHA:289548 |
Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Hypokalemia, Palpitations, Ventricular arrhythmia, Hypotension, Hype... |
ORPHA:91347 |
Prolactinoma |
|
Hypotension |
ORPHA:2965 |
Hellp Syndrome |
|
Internal hemorrhage, Cerebral hemorrhage, Hypotension |
ORPHA:244242 |
Histidinemia |
|
Hyperhistidinemia, Histidinuria, Hyperactivity |
ORPHA:2157 |
Plague |
|
Hematemesis, Depression, Anxiety, Arrhythmia, Tachycardia, Hypotension, Unsteady gait |
ORPHA:707 |
Neuroendocrine Neoplasm Of Appendix |
|
Tricuspid stenosis, Palpitations, Hypotension, Heart murmur |
ORPHA:100079 |
Leptospirosis |
|
Pulmonary hemorrhage, Hyperproteinemia, Arrhythmia, Retinal hemorrhage, Hypotension, Subconjuncti... |
ORPHA:509 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hypovolemia, Hypotension, Shock, Hyponatremia, Hypochloremia, Hyperkalemia |
ORPHA:90794 |
Non-Acquired Panhypopituitarism |
|
Hypotension |
ORPHA:90695 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Hypotension |
ORPHA:95494 |
Cataract 30, Multiple Types |
|
|
OMIM:116300 |