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Gene: Drd5 MGI:94927

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

dopamine receptor D5

Synonyms:

D5R, DRD1b, Drd1b, Drd-5, Gpcr1

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Drd5 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Drd5 (2 diseases)
Human diseases predicted to be associated with Drd5 (612 diseases)

The table below shows human diseases associated to Drd5 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Attention Deficit-Hyperactivity Disorder		Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Blepharospasm, Benign Essential, Susceptibility To			OMIM:606798

The table below shows human diseases predicted to be associated to Drd5 by phenotypic similarity.

Disease	Matching phenotypes	Source
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Hypertension, Multiple renal ...	OMIM:620056
Attention Deficit-Hyperactivity Disorder 8	Attention deficit hyperactivity disorder	OMIM:619957
Schizophrenia 15	Hyperactivity	OMIM:613950
Glomerulopathy With Fibronectin Deposits 2	Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di...	OMIM:601894
Glomerulopathy With Fibronectin Deposits 1	Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru...	OMIM:137950
Intracranial Hypertension, Idiopathic	Hypertension, Papilledema	OMIM:243200
Focal Segmental Glomerulosclerosis 2	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl...	OMIM:603965
Iga Nephropathy, Susceptibility To, 3	Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, Hypertension,...	OMIM:616818
Nail-Patella-Like Renal Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Hypertension, Microscopic hematuria	ORPHA:2613
Iga Nephropathy, Susceptibility To, 2	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i...	OMIM:613944
Hypertension, Essential	Elevated mean arterial pressure, Elevated systolic blood pressure, Elevated diastolic blood pressure	OMIM:145500
Gilles De La Tourette Syndrome	Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,...	OMIM:137580
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Microscopic hemat...	OMIM:161900
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Primary Membranoproliferative Glomerulonephritis	Renal insufficiency, Proteinuria, Myocardial infarction, Chronic kidney disease, Stage 5 chronic ...	ORPHA:54370
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Hypertension, Polycystic kidney dysplasia, Re...	OMIM:617610
Focal Segmental Glomerulosclerosis 5	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypertension, Mi...	OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Renal insufficiency, Proteinuria, Hematuria, Focal segmental glomerulosclerosis, Hypertension	OMIM:607832
Spastic Paraplegia-Nephritis-Deafness Syndrome	Nephropathy, Proteinuria, Hypertension	ORPHA:2820
Abdominal Obesity-Metabolic Syndrome 1	Hypertension	OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Hypertension	OMIM:605572
Iga Nephropathy, Susceptibility To, 1	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i...	OMIM:161950
Attrv30M Amyloidosis	Cardiomegaly, Atrioventricular block, Cardiomyopathy, Abnormal autonomic nervous system physiolog...	ORPHA:85447
Pheochromocytoma/Paraganglioma Syndrome 6	Elevated circulating catecholamine level, Hypertension, Paraganglioma	OMIM:618464
Preeclampsia/Eclampsia 1	Hypertension, Proteinuria	OMIM:189800
Fibronectin Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Cerebral hemorrhage, Nephrotic syndrome, Hypert...	ORPHA:84090
Coronary Artery Disease, Autosomal Dominant, 1	Hypertension, Diabetes mellitus, Myocardial infarction	OMIM:608320
Trimethylaminuria	Splenomegaly, Hypertension, Tachycardia, Trimethylaminuria	OMIM:602079
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Hyperactivity	DECIPHER:19
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Splenomegaly, Hematuria, Nephrotic syndrome, Hypertension, Nephropathy	OMIM:105200
Lessel-Kubisch Syndrome	Hypertension, Renal insufficiency, Hypogonadism, Renal hypoplasia	OMIM:618681
Hyperaldosteronism, Familial, Type I	Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Abnormality of the urinary system, Hyp...	OMIM:103900
Denys-Drash Syndrome	Proteinuria, Nephrotic syndrome, Hypertension, Nephropathy, Nephroblastoma	ORPHA:220
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hypertension	OMIM:166990
Intellectual Developmental Disorder, Autosomal Recessive 3	Hyperactivity	OMIM:608443
Hyperaldosteronism, Familial, Type Iv	Hypertension, Hyperaldosteronism	OMIM:617027
Liddle Syndrome	Renal insufficiency, Hypertension, Cerebral ischemia, Nephropathy, Arrhythmia	ORPHA:526
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Abnormal heart morp...	ORPHA:85445
Adenine Phosphoribosyltransferase Deficiency	Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Atrial fibrillatio...	ORPHA:976
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:605115
Cystic Hamartoma Of Lung And Kidney	Hypertension, Multicystic kidney dysplasia	ORPHA:2111
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Bruxism, Aggressive behavior	OMIM:615493
Pseudohypoaldosteronism, Type Iia	Hypertension, Pseudohypoaldosteronism	OMIM:145260
Maternally-Inherited Diabetes And Deafness	Glomerulopathy, Renal insufficiency, Proteinuria, Congestive heart failure, Hypertension, Type II...	ORPHA:225
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2	Lacunar stroke, Hypertension, Transient ischemic attack	OMIM:616779
Wild Type Attr Amyloidosis	Abnormal EKG, Renal insufficiency, Hepatomegaly, Proteinuria, Myocardial infarction, Congestive h...	ORPHA:330001
Cardiomyopathy, Dilated, 1I	Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce...	OMIM:604765
Coronary Artery Disease, Autosomal Dominant 2	Sudden cardiac death, Hypertension, Type II diabetes mellitus, Myocardial infarction	OMIM:610947
Liddle Syndrome 1	Hypertension, Renal insufficiency, Decreased circulating aldosterone level, Decreased circulating...	OMIM:177200
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat...	ORPHA:567544
Melorheostosis With Osteopoikilosis	Hypertension	ORPHA:1879
Pure Autonomic Failure	Anhidrosis, Orthostatic hypotension, Dysuria, Urinary incontinence, Abnormality of circulating ca...	ORPHA:441
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Abnormal enteric nervous sys...	ORPHA:85451
Preeclampsia	Proteinuria, Abnormality of the kidney, Chronic kidney disease, Elevated diastolic blood pressure...	ORPHA:275555
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Hypospadias, Renal salt wasting, Adrenogenital syndrome, Hypertension	OMIM:201910
Coproporphyria, Hereditary	Hepatomegaly, Tachycardia, Splenomegaly, Increased urinary porphobilinogen, Hypertension, Elevate...	OMIM:121300
Orthostatic Intolerance	Orthostatic tachycardia, Elevated urinary norepinephrine level	OMIM:604715
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Hype...	ORPHA:1345
Hyperaldosteronism, Familial, Type Ii	Hypertension, Hyperaldosteronism	OMIM:605635
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Tachycardia, Aganglionic megacolon, Ventricular septal defect, Hypertension, Abnormal autonomic n...	OMIM:613870
Obesity Due To Sim1 Deficiency	Postural hypotension with compensatory tachycardia, Hyperinsulinemia, Abnormal autonomic nervous ...	ORPHA:369873
Fabry Disease	Renal insufficiency, Proteinuria, Angina pectoris, Myocardial infarction, Transient ischemic atta...	OMIM:301500
Nephronophthisis 18	Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointerstitial nephri...	OMIM:615862
Brachydactyly-Arterial Hypertension Syndrome	Hypertension	ORPHA:1276
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Hypertension, Polycystic kidney dysplasia, D...	OMIM:618061
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Nephrocal...	OMIM:614473
Multiple Endocrine Neoplasia, Type Iia	Hyperparathyroidism, Aganglionic megacolon, Thyroid C cell hyperplasia, Elevated urinary norepine...	OMIM:171400
Focal Segmental Glomerulosclerosis 1	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypertension, Re...	OMIM:603278
Hypertension And Brachydactyly Syndrome	Hypertension	OMIM:112410
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Senior-Loken Syndrome	Hypertension, Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis	ORPHA:3156
Cryoglobulinemia, Familial Mixed	Proteinuria, Chronic kidney disease, Hematuria, Hypertension, Abnormal renal physiology	OMIM:123550
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext...	ORPHA:329918
Phosphoribosylpyrophosphate Synthetase Superactivity	Hypertension, Renal insufficiency, Arrhythmia, Cardiomyopathy	ORPHA:3222
Pituitary Adenoma 1, Multiple Types	Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul...	OMIM:102200
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:203780
Glutaric Aciduria Iii	Glutaric aciduria, Hyperthyroidism, Hypertension, Goiter	OMIM:231690
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Renal insufficiency, Mitral valve prolapse, Hypertension, Mitral regurgitation, Polycystic kidney...	OMIM:173900
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Proteinuria, Abnormal mitral valve morphology, Nephrotic syndrome, Hypertension, Type I diabetes ...	ORPHA:1192
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Diabetes mellitus, Hyperinsulinemia, Hypertension, Pancreatitis	ORPHA:79084
Riboflavin Transporter Deficiency	Optic disc pallor, Facial palsy, Hypertension, Hypogonadism, Abnormal autonomic nervous system ph...	ORPHA:97229
Ochoa Syndrome	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi...	ORPHA:2704
Frasier Syndrome	Glomerulopathy, Renal insufficiency, Streak ovary, Hypergonadotropic hypogonadism, Proteinuria, I...	ORPHA:347
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Syncope, Abnormal autonomic nervous system physiology, T...	ORPHA:101016
8P23.1 Duplication Syndrome	Ventricular septal defect, Adrenal insufficiency, Pulmonic stenosis, Tetralogy of Fallot, Hydrone...	ORPHA:251076
Pituitary Hormone Deficiency, Combined, 4	Hypothyroidism, Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation test	OMIM:262700
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Hypertension,...	OMIM:256100
Potocki-Shaffer Syndrome	Nephroblastoma, Hypertension, Delayed puberty, Micropenis, Hypothyroidism	ORPHA:52022
Morbid Obesity And Spermatogenic Failure	Congestive heart failure, Hypertension, Type II diabetes mellitus, Myocardial infarction	OMIM:615703
Pseudohypoaldosteronism, Type Iib	Hypertension, Pseudohypoaldosteronism	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hypertension, Pseudohypoaldosteronism	OMIM:614495
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney...	OMIM:602088
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis...	OMIM:610205
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Wolff-Parkinson-White syndrome, Diabetes mellitus, Congestive heart failure, Abnormal left ventri...	OMIM:540000
Apparent Mineralocorticoid Excess	Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypertension, Abnorma...	ORPHA:320
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertension, Hyperinsulinemia, Type II diabetes mellitus	ORPHA:71529
Liddle Syndrome 2	Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:618126
Aapoaiv Amyloidosis	Atrial flutter, Diabetes mellitus, Proteinuria, Abnormal cardiac ventricular function, Atrial fib...	ORPHA:439232
Nephrotic Syndrome, Type 26	Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta...	OMIM:620049
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal...	ORPHA:251274
Nephrotic Syndrome, Type 10	Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim...	OMIM:615861
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Hematuria, Hypert...	OMIM:612925
Grange Syndrome	Aortic regurgitation, Hypertension, Ventricular septal defect	ORPHA:79094
Episodic Pain Syndrome, Familial, 3	Abnormal autonomic nervous system physiology	OMIM:615552
Corticosteroid-Binding Globulin Deficiency	Hypertension, Decreased circulating cortisol level, Hypotension, Decreased urinary potassium	OMIM:611489
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Renal salt wasting, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hyperaldostero...	OMIM:264350
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	OMIM:309548
Hyperaldosteronism, Familial, Type Iii	Adrenal hyperplasia, Polyuria, Hypercalciuria, Hypertension, Hyperaldosteronism, Decreased circul...	OMIM:613677
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye...	ORPHA:93110
Tetanus	Tachycardia, Elevated urinary norepinephrine level, Elevated urinary epinephrine level, Hypertens...	ORPHA:3299
Familial Hypoaldosteronism	Orthostatic hypotension, Decreased urinary potassium, Renal salt wasting, Hypovolemia, Proximal r...	ORPHA:427
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	ORPHA:100973
Moyamoya Disease With Early-Onset Achalasia	Raynaud phenomenon, Hypertension	ORPHA:401945
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert	Hypertension, Telangiectases producing 'marbled' skin	OMIM:206570
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury	OMIM:612924
Achalasia-Addisonianism-Alacrima Syndrome	Decreased circulating cortisol level, Orthostatic hypotension, Optic atrophy, Adrenocorticotropin...	OMIM:231550
Variant Abeta2M Amyloidosis	Chronic kidney disease, Reduced left ventricular ejection fraction, Renal amyloidosis, Abnormal a...	ORPHA:314652
C3 Glomerulopathy 3	Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St...	OMIM:614809
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury	OMIM:612926
Non-Functioning Paraganglioma	Paraganglioma of head and neck, Cerebral hemorrhage, Elevated urinary norepinephrine level, Episo...	ORPHA:94080
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c...	ORPHA:404
Pseudohypoaldosteronism, Type Iie	Hypertension, Pseudohypoaldosteronism	OMIM:614496
Al Amyloidosis	Xerostomia, Abnormal EKG, Hepatomegaly, Abnormality of the kidney, Nephrotic syndrome, Abnormal a...	ORPHA:85443
Parkinson Disease 4, Autosomal Dominant	Orthostatic hypotension, Abnormal autonomic nervous system physiology	OMIM:605543
Sneddon Syndrome	Intracranial hemorrhage, Nephropathy, Hypertension	ORPHA:820
Familial Cervical Artery Dissection	Diabetes mellitus, Transient ischemic attack, Facial palsy, Subarachnoid hemorrhage, Recurrent ce...	ORPHA:36382
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ...	OMIM:171420
Atrial Fibrillation, Familial, 14	ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval	OMIM:615378
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,...	ORPHA:563
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension...	ORPHA:403
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis	ORPHA:69063
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Late-Onset Familial Hypoaldosteronism	Orthostatic hypotension, Abnormal circulating corticosterone level, Elevated serum 11-deoxycortis...	ORPHA:556037
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Combined Oxidative Phosphorylation Deficiency 52	Renal insufficiency, Lacticaciduria, Aminoaciduria, Adrenal insufficiency, Hypertrophic cardiomyo...	OMIM:619386
Coenzyme Q10 Deficiency, Primary, 8	Renal dysplasia, Hypertension, Left ventricular hypertrophy, Abnormal renal corticomedullary diff...	OMIM:616733
Alport Syndrome 1, X-Linked	Hypoparathyroidism, Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, T...	OMIM:301050
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Hypertension, Adrenal hyperplasia, Adrenogenital syndrome	OMIM:202110
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Hyperactivity, Aggressive behavior	OMIM:619031
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ...	ORPHA:730
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, Ne...	ORPHA:231625
Multiple System Atrophy	Raynaud phenomenon, Orthostatic syncope, Abnormal autonomic nervous system physiology, Autonomic ...	ORPHA:102
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Hypertension, Polycystic kidney dysplasia	OMIM:600666
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T...	OMIM:104200
Ganglioneuroma	Gastrointestinal hemorrhage, Hypertension, Abnormality of the adrenal glands, Neoplasm of the adr...	ORPHA:251992
Corticosterone Methyloxidase Type Ii Deficiency	Orthostatic hypotension, Increased circulating corticosterone level, Renal salt wasting, Increase...	OMIM:610600
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Hypertension, Increas...	OMIM:615954
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Ventricular septal defect, Nephrolithiasis, Biventricular hypertrophy, Hypertension, Second degre...	OMIM:615474
X-Linked Hypohidrotic Ectodermal Dysplasia	Type I diabetes mellitus, Hypertension, Anterior hypopituitarism, Hypohidrosis	ORPHA:181
Apparent Mineralocorticoid Excess	Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:218030
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:301008
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:616032
Multicentric Carpotarsal Osteolysis Syndrome	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Bilateral renal a...	OMIM:166300
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Hypertension, Aminoaciduria, Glycosuria, Tubulointer...	OMIM:618913
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Situs invers...	OMIM:613095
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Chronic pancreatitis, Stage 5 chronic kidney disease, H...	OMIM:613159
Neuropathy, Hereditary Sensory And Autonomic, Type Vii	Abnormal autonomic nervous system physiology, Hyperhidrosis	OMIM:615548
Pseudohypoaldosteronism, Type Iic	Hypertension, Pseudohypoaldosteronism, Decreased circulating renin level	OMIM:614492
Wolfram Syndrome, Mitochondrial Form	Diabetes mellitus, Hydroureter, Optic atrophy, Abnormal autonomic nervous system physiology, Diab...	OMIM:598500
Pheochromocytoma/Paraganglioma Syndrome 3	Extraadrenal pheochromocytoma, Tachycardia, Chemodectoma, Adrenal pheochromocytoma, Glomus jugula...	OMIM:605373
Dysautonomia-Like Disorder	Abnormal autonomic nervous system physiology	OMIM:224000
Lipodystrophy, Familial Partial, Type 1	Insulin-resistant diabetes mellitus, Acute pancreatitis, Hypertension, Hepatomegaly	OMIM:608600
Early-Onset Familial Hypoaldosteronism	Orthostatic hypotension, Abnormal circulating corticosterone level, Elevated serum 11-deoxycortis...	ORPHA:556030
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Multiple System Atrophy, Parkinsonian Type	Raynaud phenomenon, Orthostatic syncope, Abnormal autonomic nervous system physiology, Autonomic ...	ORPHA:98933
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Epistaxis, Nephrolithias...	ORPHA:369929
Takayasu Arteritis	Abnormal endocardium morphology, Abnormal heart valve morphology, Myocardial infarction, Vasculit...	ORPHA:3287
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Hypoplasia of penis, Abnormal autonomic nervous system physiology, Cardiac arrest, Arrhythmia	ORPHA:168593
Erythermalgia, Primary	Abnormal autonomic nervous system physiology, Xerostomia, Palpitations, Hyperhidrosis	OMIM:133020
Oligomeganephronia	Renal insufficiency, Proteinuria, Unilateral renal agenesis, Secundum atrial septal defect, Abnor...	ORPHA:2260
Persistent Idiopathic Facial Pain	Abnormal autonomic nervous system physiology	ORPHA:398147
Plin1-Related Familial Partial Lipodystrophy	Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia, Abnormal circulating hormone co...	ORPHA:280356
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hyperaldosteronism, Increased circ...	OMIM:177735
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Diabetic ketoacidosis, Hyperte...	OMIM:615238
Glucocorticoid Resistance, Generalized	Increased circulating ACTH level, Hypertension, Increased circulating cortisol level, Increased s...	OMIM:615962
Nephrotic Syndrome, Type 16	Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis	OMIM:617783
Pseudo-Torch Syndrome 3	Proteinuria, Cerebral hemorrhage, Cardiomegaly, Hypertension, Acute kidney injury	OMIM:618886
Sneddon Syndrome	Bicuspid aortic valve, Facial palsy, Cerebral hemorrhage, Hypertension, Ischemic stroke	OMIM:182410
Erythrocytosis, Familial, 1	Splenomegaly, Hypertension, Cerebral hemorrhage, Myocardial infarction	OMIM:133100
Nephroblastoma	Hematuria, Hypertension, Nephroblastoma	ORPHA:654
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di...	OMIM:618052
Moyamoya Disease 6 With Or Without Achalasia	Raynaud phenomenon, Hypertension, Ischemic stroke	OMIM:615750
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral...	OMIM:617271
Cystinuria	Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias...	OMIM:220100
Ectopic Aldosterone-Producing Tumor	Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertension, Adrenocortical ad...	ORPHA:231632
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Pheochromocytoma/Paraganglioma Syndrome 1	Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Tachycardia, ...	OMIM:168000
Postorgasmic Illness Syndrome	Hypertension, Xerostomia, Palpitations, Hyperhidrosis	ORPHA:279947
Primary Unilateral Adrenal Hyperplasia	Adrenal hyperplasia, Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary h...	ORPHA:231580
Sporadic Pheochromocytoma/Secreting Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Cerebral hemorrhage, ...	ORPHA:276621
Polyarteritis Nodosa	Pericarditis, Abnormality of the kidney, Raynaud phenomenon, Cardiomyopathy, Hypertension	ORPHA:767
Porphyria Variegata	Neurogenic bladder, Tachycardia, Chronic kidney disease, Porphyrinuria, Increased urinary porphob...	ORPHA:79473
Renal Agenesis	Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ventricular septal d...	ORPHA:411709
Lipodystrophy, Familial Partial, Type 4	Hypertension, Insulin-resistant diabetes mellitus	OMIM:613877
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Orthostatic hypotension, Sta...	OMIM:191800
Multiple System Atrophy, Cerebellar Type	Raynaud phenomenon, Orthostatic syncope, Abnormal autonomic nervous system physiology, Autonomic ...	ORPHA:227510
Parkinsonism-Dystonia 2, Infantile-Onset	Elevated urinary homovanillic acid, Abnormal autonomic nervous system physiology, Hyperhidrosis	OMIM:618049
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h...	ORPHA:280679
Combined Oxidative Phosphorylation Deficiency 50	Adrenal insufficiency	OMIM:619025
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Prolonged QTc interval, Hyp...	ORPHA:90065
Heme Oxygenase 1 Deficiency	Hepatomegaly, Proteinuria, Epistaxis, Diffuse alveolar hemorrhage, Hematuria, Hypertension, Nephr...	OMIM:614034
Adult-onset autosomal dominant leukodystrophy (ADLD)	Abnormal autonomic nervous system physiology	DECIPHER:59
Corticosterone Methyloxidase Type I Deficiency	Decreased circulating aldosterone level, Increased circulating renin level, Hypotension, Renal sa...	OMIM:203400
Rhabdoid Tumor	Hematuria, Renal neoplasm, Hypertension, Internal hemorrhage	ORPHA:69077
Pseudohypoaldosteronism Type 2	Hypertension	ORPHA:757
Pigmented Nodular Adrenocortical Disease, Primary, 4	Diabetes mellitus, Adrenal hyperplasia, Hypertension, Increased circulating cortisol level, Prima...	OMIM:615830
Adrenal Hypoplasia, Congenital	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Renal sa...	OMIM:300200
Pheochromocytoma	Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ...	OMIM:171300
Stiff Skin Syndrome	Nephrolithiasis, Hypertension, Type II diabetes mellitus	ORPHA:2833
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe...	OMIM:263200
Hereditary Amyloidosis With Primary Renal Involvement	Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Proteinuria, Renal interstitial a...	ORPHA:85450
Alport Syndrome	Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo...	ORPHA:63
Familial Glucocorticoid Deficiency	Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,...	ORPHA:361
Renal Nutcracker Syndrome	Orthostatic hypotension, Tachycardia, Proteinuria, Hematuria, Syncope, Renal artery stenosis, Abn...	ORPHA:71273
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov...	OMIM:264800
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Autonomic bladder dysfunction, Decreased sweating due to autonomic dysfunction, Autonomic erectil...	OMIM:169500
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc...	OMIM:178600
Reni Syndrome	Diffuse mesangial sclerosis, Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney dise...	OMIM:617575
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Decreased circulating cortisol level, Male hypogonadism, Micropenis, Decreased circulating renin ...	ORPHA:90793
Renal Hypoplasia, Bilateral	Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin...	ORPHA:97362
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines	OMIM:301076
Acth-Independent Macronodular Adrenal Hyperplasia	Adrenal hyperplasia, Decreased circulating ACTH concentration, Hypertension, Increased circulatin...	OMIM:219080
Coach Syndrome 2	Hypertension, Hyperechogenic kidneys	OMIM:619111
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig...	OMIM:610489
Methanol Poisoning	Myocardial infarction, Cerebral hemorrhage, Permanent atrial fibrillation, Inflammatory arteriopa...	ORPHA:31825
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame...	OMIM:610475
Aicardi-Goutieres Syndrome 9	Hepatomegaly, Renal insufficiency, Acute pancreatitis, Recurrent urinary tract infections, Protei...	OMIM:619487
Fragile X-Associated Tremor/Ataxia Syndrome	Hypertension, Pollakisuria, Abnormal autonomic nervous system physiology, Hypotension, Urinary bl...	ORPHA:93256
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Diabetes mellitus, Transient ischemic attack, Cerebral hemorrhage, Stress urinary incontinence, I...	ORPHA:136
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Hypertension, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure	ORPHA:1349
Mitchell Syndrome	Abnormal autonomic nervous system physiology	OMIM:618960
Hereditary Pheochromocytoma-Paraganglioma	Positive regitine blocking test, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, P...	ORPHA:29072
Neuroblastoma, Susceptibility To, 1	Elevated urinary catecholamine level, Elevated urinary dopamine level, Horner syndrome, Abnormali...	OMIM:256700
Pheochromocytoma/Paraganglioma Syndrome 4	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tachycardia, Elevated urinary cate...	OMIM:115310
Inflammatory Skin And Bowel Disease, Neonatal, 2	Hypertension	OMIM:616069
Morgagni-Stewart-Morel Syndrome	Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Hyperte...	ORPHA:77296
Orthostatic Hypotension 2	Orthostatic hypotension, Decreased glomerular filtration rate	OMIM:618182
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Renal salt wasting, Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess	OMIM:613743
Renal Hypodysplasia/Aplasia 1	Hypertension, Bilateral renal agenesis, Proteinuria, Renal dysplasia	OMIM:191830
Nephrotic Syndrome, Type 4	Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:256370
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa...	OMIM:308990
Arteriosclerosis, Severe Juvenile	Hypertension, Chronic kidney disease, Myocardial infarction, Delayed puberty	OMIM:208060
Myxopapillary Ependymoma	Autonomic bladder dysfunction	ORPHA:251643
Multiple System Atrophy 1, Susceptibility To	Anhidrosis, Orthostatic hypotension, Urinary incontinence, Hypohidrosis, Urinary urgency, Abnorma...	OMIM:146500
Caudal Regression Syndrome	Ureteral duplication, Renal insufficiency, Renal agenesis, Maternal diabetes, Ectopic kidney, Abn...	ORPHA:3027
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Sickle Cell Disease	Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Hematuria, Hypertension	OMIM:603903
Bardet-Biedl Syndrome	Multicystic kidney dysplasia, Hypoplasia of penis, Nephrotic syndrome, Hypertension, Hypoplasia o...	ORPHA:110
Arterial Calcification, Generalized, Of Infancy, 1	Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertensi...	OMIM:208000
Abdominal Obesity-Metabolic Syndrome 4	Hypertension, Type II diabetes mellitus, Myocardial infarction	OMIM:618620
Epilepsy, Familial Focal, With Variable Foci 4	Abnormal autonomic nervous system physiology	OMIM:617935
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension...	ORPHA:1457
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi...	ORPHA:66529
Congenital Isolated Acth Deficiency	Hypotension, Decreased circulating cortisol level, Adrenocorticotropin deficient adrenal insuffic...	ORPHA:199296
Indifference To Pain, Congenital, Autosomal Recessive	Anhidrosis, Urinary incontinence, Hypohidrosis, Abnormal autonomic nervous system physiology, Abn...	OMIM:243000
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Renal insufficiency, Membranoproliferative glomerulonephritis, Prote...	ORPHA:91139
Aortic Arch Interruption	Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl...	ORPHA:2299
Wolfram Syndrome	Gastrointestinal hemorrhage, Recurrent urinary tract infections, Diabetes mellitus, Dysuria, Neph...	ORPHA:3463
Pediatric-Onset Graves Disease	Hepatomegaly, Atrial fibrillation, Puberty and gonadal disorders, Congestive heart failure, Thyro...	ORPHA:525731
Kearns-Sayre Syndrome	Hypoparathyroidism, Diabetes mellitus, Primary adrenal insufficiency, Renal tubular acidosis, Car...	OMIM:530000
Coach Syndrome 1	Optic disc pallor, Hepatomegaly, Unilateral renal agenesis, Portal hypertension, Splenomegaly, Mu...	OMIM:216360
Fixed Subaortic Stenosis	Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Bicuspid aortic valve, Ven...	ORPHA:3092
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Cerebral vasculitis, Abnormal autonomic nervous system physiology, Hypothyroidism, Hashimoto thyr...	ORPHA:83601
Nelson Syndrome	Increased urinary cortisol level, Pituitary corticotropic cell adenoma, Adrenocorticotropic hormo...	ORPHA:199244
Alstrom Syndrome	Hepatomegaly, Renal insufficiency, Hypergonadotropic hypogonadism, Decreased response to growth h...	OMIM:203800
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c...	OMIM:300845
Autosomal Dominant Epilepsy With Auditory Features	Abnormal autonomic nervous system physiology	ORPHA:101046
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating cortisol level, Premature pubarche, Isosexual precocious puberty, Premature...	ORPHA:90795
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology	ORPHA:139578
Lipodystrophy, Familial Partial, Type 6	Hypertension, Diabetes mellitus	OMIM:615980
Birk-Landau-Perez Syndrome	Stage 3 chronic kidney disease, Renal insufficiency, Optic atrophy, Renal hypoplasia, Tubulointer...	OMIM:617595
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Long penis, Adrenogenita...	OMIM:202010
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Abnormal autonomic nervous system physiology, Optic atrophy, Bradycardia	OMIM:614498
Amyloidosis, Hereditary, Transthyretin-Related	Urinary incontinence, Cardiomegaly, Cardiomyopathy, Abnormal autonomic nervous system physiology,...	OMIM:105210
Central Hypoventilation Syndrome, Congenital, 3	Episodic hypertension	OMIM:619483
Juvenile Paget Disease	Hypertension, Optic atrophy	ORPHA:2801
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Portal hypertension, Chronic kidney disease, Renal a...	ORPHA:84081
Extracranial Carotid Artery Aneurysm	Diabetes mellitus, Subarachnoid hemorrhage, Vasculitis, Hypertension, Cerebral ischemia, Arteriti...	ORPHA:494424
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Atrioventricular block, Nephropathy, Glomerulop...	ORPHA:324
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect...	ORPHA:2041
Pituitary Hormone Deficiency, Combined, 2	Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma...	OMIM:262600
Carney Triad	Gastrointestinal hemorrhage, Tachycardia, Hypertension, Adrenocortical adenoma, Pheochromocytoma,...	ORPHA:139411
Serotonin Syndrome	Tachycardia, Hyperhidrosis, Hypertension, Hypotension, Abnormality of the autonomic nervous syste...	ORPHA:43116
Congenitally Uncorrected Transposition Of The Great Arteries	Cardiac shunt, Maternal diabetes, Cardiomegaly, Hyperhidrosis, Dextrotransposition of the great a...	ORPHA:860
Beta-Propeller Protein-Associated Neurodegeneration	Optic atrophy, Abnormal autonomic nervous system physiology	ORPHA:329284
Systemic Lupus Erythematosus 17	Raynaud phenomenon, Mitral regurgitation, Hypertensive crisis	OMIM:301080
Spinocerebellar Ataxia, Autosomal Recessive 8	Optic atrophy, Abnormal autonomic nervous system physiology	OMIM:610743
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Overriding aorta, Ventricular septal defect, Hematuria, Hypertension, Second degree atrioventricu...	OMIM:617021
Paternal Uniparental Disomy Of Chromosome 1	Anhidrosis, Membranoproliferative glomerulonephritis, Proteinuria, Hypertension, Macroscopic hema...	ORPHA:251004
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Polyuria, Renal salt wasting, Enuresis, Hypertension, Hyperaldosteronism, Increased circulating r...	OMIM:612780
Porphyria, Acute Intermittent	Tachycardia, Dysuria, Urinary incontinence, Hypertension, Urinary retention, Elevated urinary del...	OMIM:176000
Familial Cerebral Saccular Aneurysm	Intracranial hemorrhage, Hypertension, Transient ischemic attack, Subarachnoid hemorrhage	ORPHA:231160
Eosinophilic Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Recurrent intrapulmonary hemorrhage, Proteinuria, Transient ...	ORPHA:183
Familial Dysautonomia	Glomerulopathy, Renal insufficiency, Orthostatic hypotension, Tachycardia, Abnormality of the kid...	ORPHA:1764
Neuroleptic Malignant Syndrome	Tachycardia, Proteinuria, Urinary incontinence, Pulmonary embolism, Hyperhidrosis, Hypertension, ...	ORPHA:94093
Mercury Poisoning	Hypertension, Tachycardia, Acute kidney injury, Hypotension	ORPHA:330021
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Transient ischemic attack, Cardiac arrest, Sudden cardiac ...	OMIM:115197
Abdominal Obesity-Metabolic Syndrome 3	Hypertension, Coronary artery stenosis, Type II diabetes mellitus, Myocardial infarction	OMIM:615812
Paroxysmal Hemicrania	Hypertension, Diabetes mellitus	ORPHA:157835
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr...	ORPHA:189427
Mitochondrial Complex I Deficiency, Nuclear Type 16	Optic atrophy, Adrenal insufficiency	OMIM:618238
Beta-Thalassemia Intermedia	Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, High-output congestive heart failure, Spleno...	ORPHA:231222
Severe Neurodegenerative Syndrome With Lipodystrophy	Hypertension, Hyperinsulinemia, Hepatomegaly	ORPHA:363400
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Proteinuria, Raynaud phenomenon, Punctate vasculitis skin lesions, T...	ORPHA:247691
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Orthostatic hypotension, Tachycardia, Episodic hyperhidrosis, Hypertension, Glomerular sclerosis,...	OMIM:223900
Glycogen Storage Disease Ia	Hepatomegaly, Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Hypertension, Del...	OMIM:232200
Igg4-Related Retroperitoneal Fibrosis	Renal insufficiency, Dysuria, Renovascular hypertension, Renal tubular epithelial necrosis, Unila...	ORPHA:49041
Autoimmune Polyendocrinopathy Type 2	Hypoparathyroidism, Abnormality of the thyroid gland, Primary adrenal insufficiency, Hypogonadism...	ORPHA:3143
Acute Adrenal Insufficiency	Decreased circulating cortisol level, Renal insufficiency, Orthostatic hypotension, Adrenal hypop...	ORPHA:95409
Lipodystrophy, Familial Partial, Type 3	Maternal diabetes, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hypertension, Type II d...	OMIM:604367
Polycythemia Vera	Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo...	ORPHA:729
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Pulmonary embolism, Chronic kidney disease, Stage 5 chronic ki...	ORPHA:567546
Stiff-Person Syndrome	Hypertension, Tachycardia, Diabetes mellitus, Hyperhidrosis	OMIM:184850
Adenohypophysitis	Decreased circulating cortisol level, Orthostatic hypotension, Reduced circulating prolactin conc...	ORPHA:95512
Lambert-Eaton Myasthenic Syndrome	Xerostomia, Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomi...	ORPHA:43393
Schimke Immuno-Osseous Dysplasia	Proteinuria, Abnormality of thyroid physiology, Transient ischemic attack, Minimal change glomeru...	ORPHA:1830
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Diabetes mellitus, Maternal diabetes, Congestive heart failure, Insulin-resistant d...	ORPHA:79083
Panhypophysitis	Decreased circulating cortisol level, Orthostatic hypotension, Reduced circulating prolactin conc...	ORPHA:95513
Gaucher Disease, Type I	Hepatomegaly, Epistaxis, Splenomegaly, Hypertension, Mitral regurgitation, Pulmonary arterial hyp...	OMIM:230800
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom...	ORPHA:439
Von Hippel-Lindau Disease	Papilledema, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Myocardial infa...	ORPHA:892
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Congestive heart failure, Cardiomegaly	OMIM:300886
Caribbean Parkinsonism	Orthostatic hypotension, Abnormal autonomic nervous system physiology, Autonomic bladder dysfunction	ORPHA:97355
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre...	OMIM:609734
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Abnormal endocardium morphology, Angina pectoris, Telangiectasia of ...	ORPHA:758
Familial Atrial Myxoma	Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Pulmonic valve myxoma, Cardiac m...	ORPHA:615
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,...	ORPHA:71526
Glycogen Storage Disease Ib	Hepatomegaly, Proteinuria, Splenomegaly, Nephrolithiasis, Focal segmental glomerulosclerosis, Hyp...	OMIM:232220
Insensitivity To Pain, Congenital, With Anhidrosis	Anhidrosis, Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous system...	OMIM:256800
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ...	OMIM:194080
Glycogen Storage Disease Ic	Hepatomegaly, Renal insufficiency, Proteinuria, Spider hemangioma, Chronic pancreatitis, Hematuri...	OMIM:232240
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Papilledema, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Premature th...	ORPHA:371428
Overlap Myositis	Diabetes mellitus, Abnormality of the kidney, Raynaud phenomenon, Abnormal heart morphology, Hype...	ORPHA:206572
Diffuse Cutaneous Systemic Sclerosis	Renal insufficiency, Telangiectasia of the skin, Congestive heart failure, Xerostomia, Oliguria, ...	ORPHA:220393
Tsh-Secreting Pituitary Adenoma	Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,...	ORPHA:91347
Hemorrhagic Fever-Renal Syndrome	Anuria, Acute tubulointerstitial nephritis, Hyperhidrosis, Tubulointerstitial nephritis, Intracra...	ORPHA:340
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ...	ORPHA:786
Isolated Ectopia Lentis	Hypertension	ORPHA:1885
X-Linked Adrenoleukodystrophy	Neurogenic bladder, Increased circulating ACTH level, Adrenal insufficiency, Abnormality of adren...	ORPHA:43
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Renal insufficiency, Tachycardia, Atrial fibrillation, Facial palsy...	ORPHA:31826
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Proteinuria, Insulin-resistant diabetes mellitus, Hyperinsuline...	ORPHA:79086
Pituitary Apoplexy	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci...	ORPHA:95613
Alagille Syndrome	Hepatomegaly, Telangiectasia of the skin, Ventricular septal defect, Renal hypoplasia/aplasia, Ab...	ORPHA:52
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypert...	OMIM:620135
Seckel Syndrome 10	Ventricular hypertrophy, Acute pancreatitis, Diabetes mellitus, Elevated circulating luteinizing ...	OMIM:617253
Complete Atrioventricular Septal Defect	Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Hyperhidrosis, Displacement of...	ORPHA:1329
Sheehan Syndrome	Decreased circulating cortisol level, Orthostatic hypotension, Reduced circulating prolactin conc...	ORPHA:91355
Alexander Disease	Diabetes mellitus, Facial palsy, Sudden cardiac death, Precocious puberty, Hyperhidrosis, Hyperte...	ORPHA:58
Bartter Syndrome Type 4	Renal salt wasting, Increased urinary potassium, Impaired renal concentrating ability, Chronic ki...	ORPHA:89938
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Neurogenic bladder, Optic atrophy, Abnormal autonomic nervous system physiology, Hepatosplenomegaly	ORPHA:466934
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hemolytic-uremic syndrome, Hypertension, Anuria, Acute kidney injury	OMIM:235400
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Hypertension, Pulmonary arterial hypertension, Cardiomegaly	OMIM:613320
Primary Hyperoxaluria Type 3	Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri...	ORPHA:93600
Cirrhosis, Familial	Hypertension, Pulmonary arterial hypertension, Increased level of L-fucose in urine	OMIM:215600
Cutis Marmorata Telangiectatica Congenita	Hypertension, Telangiectasia	OMIM:219250
Immunodeficiency 54	Splenomegaly, Hepatomegaly, Adrenal insufficiency, Adrenocorticotropic hormone excess	OMIM:609981
Schimke Immunoosseous Dysplasia	Renal insufficiency, Proteinuria, Transient ischemic attack, Elevated circulating thyroid-stimula...	OMIM:242900
Fatal Familial Insomnia	Urinary retention, Abnormal autonomic nervous system physiology, Hyperhidrosis	OMIM:600072
Acute Intermittent Porphyria	Dark urine, Renal insufficiency, Tachycardia, Urinary incontinence, Dysuria, Porphyrinuria, Hyper...	ORPHA:79276
Infant Botulism	Hypertension, Xerostomia, Cardiac arrest, Hypotension	ORPHA:178478
Visceral Neuropathy, Familial, 1, Autosomal Recessive	Aganglionic megacolon, Abnormal autonomic nervous system physiology	OMIM:243180
Multiple Endocrine Neoplasia Type 2	Hyperhidrosis, Elevated circulating parathyroid hormone level, Pheochromocytoma, Ganglioneuromato...	ORPHA:653
Combined Oxidative Phosphorylation Deficiency 34	Primary adrenal insufficiency, Hepatomegaly, Elevated circulating thyroid-stimulating hormone con...	OMIM:617872
Monosomy 18P	Hypertension, Hypothyroidism	ORPHA:1598
Familial Pseudohyperkalemia	Hypertension	ORPHA:90044
Adult-Onset Autosomal Dominant Leukodystrophy	Anhidrosis, Recurrent urinary tract infections, Orthostatic hypotension, Abnormal auditory evoked...	ORPHA:99027
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Diabetes mellitus, Hyperthyroidism, Mitral valve prolapse, Hypertension, Hypothyroidism	ORPHA:449291
Familial Bicuspid Aortic Valve	Aortic regurgitation, Bicuspid aortic valve, Aortic valve calcification, Heart murmur, Hypertensi...	ORPHA:402075
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Hypertension, Hypothyroidism	OMIM:617763
Triple A Syndrome	Anterior hypopituitarism, Optic atrophy, Adrenal insufficiency	ORPHA:869
Lead Poisoning	Chronic kidney disease, Renal tubular dysfunction, Tubulointerstitial nephritis, Hypertension, De...	ORPHA:330015
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Proteinuria, Glomerulonephritis, Prolonged QRS complex, Myoca...	ORPHA:90068
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Secundum atrial septal defect, Hypertension, Renal hypoplasia, Absence of renal corticomedullary ...	OMIM:619758
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Decreased circulating cortisol level, Penoscrotal hypospadias, Hypospadias, Increased circulating...	ORPHA:90791
Addison Disease	Hypoparathyroidism, Decreased circulating cortisol level, Orthostatic hypotension, Adrenal calcif...	ORPHA:85138
Joubert Syndrome 14	Ventricular septal defect, Optic atrophy, Renal cyst, Intracranial hemorrhage, Hypertension	OMIM:614424
Scalp-Ear-Nipple Syndrome	Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit...	ORPHA:2036
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Female hypogonadism, Decreased circulating parathyroid hormone level, Decreas...	OMIM:240300
Alexander Disease Type Ii	Urinary bladder sphincter dysfunction, Abnormal autonomic nervous system physiology	ORPHA:363722
Methylcobalamin Deficiency Type Cble	Hemolytic-uremic syndrome, Glomerulopathy, Hypertension	ORPHA:2169
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Patent foramen ovale, Ventricular...	OMIM:601005
Melkersson-Rosenthal Syndrome	Abnormal autonomic nervous system physiology, Facial palsy, Oligosacchariduria	ORPHA:2483
Hereditary Renal Hypouricemia	Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithiasis indepe...	ORPHA:94088
Arima Syndrome	Hepatomegaly, Proteinuria, Polyuria, Optic atrophy, Stage 5 chronic kidney disease, Hematuria, Hy...	OMIM:243910
Alkaptonuria	Mitral valve calcification, Abnormal heart valve morphology, Myocardial infarction, Aortic valve ...	ORPHA:56
Cirrhotic Cardiomyopathy	Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C...	ORPHA:57777
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Elevated circula...	ORPHA:289548
Wolman Disease	Splenomegaly, Hepatomegaly, Adrenal insufficiency, Adrenal calcification	ORPHA:75233
Primary Progressive Freezing Gait	Hypertension, Urinary incontinence	ORPHA:75567
Spondyloenchondrodysplasia	Proteinuria, Decreased response to growth hormone stimulation test, Raynaud phenomenon, Chronic k...	ORPHA:1855
Posttransplant Acute Limbic Encephalitis	Abnormal autonomic nervous system physiology	ORPHA:163921
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc...	ORPHA:3453
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Elevated circulating luteinizing hormone level, Adrenal hyp...	ORPHA:168558
Leukodystrophy, Hypomyelinating, 12	Neurogenic bladder, Optic atrophy, Abnormal autonomic nervous system physiology	OMIM:616683
Acute Transverse Myelitis	Orthostatic hypotension, Urinary incontinence, Subarachnoid hemorrhage, Hypertension, Urinary ret...	ORPHA:139417
Multiple Endocrine Neoplasia Type 1	Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t...	ORPHA:652
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Hyperhidrosis, Abnormal left ventricular function, Internal hemorrhage, Hepa...	ORPHA:99827
Prolactinoma	Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormone concentra...	ORPHA:2965
Pituitary Adenoma 4, Acth-Secreting	Nephrolithiasis, Pituitary adenoma, Hypertension, Increased circulating ACTH level	OMIM:219090
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Renal insufficiency, Hepatomegaly, Proteinuria, Optic atroph...	ORPHA:90321
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Ureteral stenosis, Diabetes ins...	ORPHA:900
Dominant Beta-Thalassemia	Hypoparathyroidism, Diabetes mellitus, High-output congestive heart failure, Splenomegaly, Dilate...	ORPHA:231226
Lmna-Related Cardiocutaneous Progeria Syndrome	Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Pulmonary carcinoi...	ORPHA:363618
Gaisböck Syndrome	Diabetes mellitus, Angina pectoris, Myocardial infarction, Splenomegaly, Hypovolemia, Elevated di...	ORPHA:90041
Distal Deletion 13Q	Abnormal cardiac septum morphology, Optic atrophy, Primary adrenal insufficiency, Renal hypoplasi...	ORPHA:1590
Hemochromatosis, Type 1	Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Congestive heart fa...	OMIM:235200
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Splenomegaly, Optic atrophy, Renal hypoplasia, Nephrocalcinosis, Hypertension, Aminoaciduria, Ren...	OMIM:617913
Isolated Anencephaly/Exencephaly	Primary adrenal insufficiency	ORPHA:1048
Combined Oxidative Phosphorylation Deficiency 15	Wolff-Parkinson-White syndrome, Optic disc pallor, Ventricular septal defect, Optic atrophy, Shor...	OMIM:614947
Primary Hyperoxaluria Type 2	Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca...	ORPHA:93599
Hypoadrenocorticism, Familial	Adrenal insufficiency, Adrenal hypoplasia	OMIM:240200
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ...	OMIM:609136
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Hypothyroidism, Abnormal ...	ORPHA:453499
Danon Disease	Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila...	OMIM:300257
Hyperoxaluria, Primary, Type Ii	Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria	OMIM:260000
Beta-Thalassemia Major	Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, High-output congestive heart failure, Spleno...	ORPHA:231214
Atresia Of Urethra	Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec...	ORPHA:105
Cholesteryl Ester Storage Disease	Hepatomegaly, Adrenal calcification, Portal hypertension, Splenomegaly, Hepatosplenomegaly, Adren...	OMIM:278000
Inherited Creutzfeldt-Jakob Disease	Vestibular nystagmus, Abnormal autonomic nervous system physiology	ORPHA:282166
Xfe Progeroid Syndrome	Hypertension, Renal insufficiency, Optic atrophy, Proteinuria	OMIM:610965
Tuberous Sclerosis Complex	Renal insufficiency, Abnormality of the kidney, Pancreatic endocrine tumor, Pituitary adenoma, Ch...	ORPHA:805
Von Hippel-Lindau Syndrome	Hypertension, Renal cell carcinoma, Multiple renal cysts, Pheochromocytoma, Paraganglioma	OMIM:193300
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiac arrest, Cardiomegaly, Nephrotic syndrome, Cardiomyopathy, Left ventricular ...	OMIM:617713
Adrenomyeloneuropathy	Urinary incontinence, Primary adrenal insufficiency, Adrenocorticotropic hormone excess, Urinary ...	ORPHA:139399
Central Hypoventilation Syndrome, Congenital, 1	Abnormal autonomic nervous system physiology, Aganglionic megacolon, Decreased heart rate variabi...	OMIM:209880
Scorpion Envenomation	Bundle branch block, Acute pancreatitis, Ketonuria, Tachycardia, Cardiac conduction abnormality, ...	ORPHA:466677
Myasthenia Gravis	Hyperthyroidism, Raynaud phenomenon, Primary adrenal insufficiency, Abnormal thymus morphology, G...	ORPHA:589
Craniopharyngioma	Enlarged pituitary gland, Papilledema, Hypogonadotropic hypogonadism, Neoplasm of the anterior pi...	ORPHA:54595
Tremor-Ataxia-Central Hypomyelination Syndrome	Optic atrophy, Hypogonadotropic hypogonadism, Autonomic bladder dysfunction, Delayed puberty	ORPHA:447896
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Orthostatic hypotension, Adrenal insufficiency, Hypohidrosis	OMIM:615510
Hurler Syndrome	Hepatomegaly, Angina pectoris, Abnormal heart valve morphology, Splenomegaly, Cardiomyopathy, Hyp...	ORPHA:93473
Wagro Syndrome	Hypertension, Nephroblastoma, Proteinuria	OMIM:612469
Late-Onset Isolated Acth Deficiency	Hypoparathyroidism, Decreased circulating cortisol level, Orthostatic hypotension, Decreased circ...	ORPHA:199299
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f...	ORPHA:1677
Werner Syndrome	Renal neoplasm, Telangiectasia of the skin, Myocardial infarction, Congestive heart failure, Hype...	ORPHA:902
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp...	OMIM:617729
Machado-Joseph Disease	Urinary bladder sphincter dysfunction, Abnormal autonomic nervous system physiology	OMIM:109150
Beta-Ketothiolase Deficiency	Hypertension, Ketonuria, Hypotension, Hepatomegaly	ORPHA:134
Livedoid Vasculopathy	Diabetes mellitus, Telangiectasia of the skin, Abnormality of the peripheral nervous system, Hype...	ORPHA:542643
Infantile Neuroaxonal Dystrophy	Optic atrophy, Abnormal autonomic nervous system physiology, Abnormality of peripheral nerve cond...	ORPHA:35069
Trisomy 20P	Hypospadias, Abnormality of the kidney, Abnormality of the ureter, Abnormal localization of kidne...	ORPHA:261318
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el...	OMIM:261740
Xq21 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi...	ORPHA:1435
Low Phospholipid-Associated Cholelithiasis	Hypertension, Diabetes mellitus, Pancreatitis	ORPHA:69663
Autosomal Dominant Dopa-Responsive Dystonia	Hypertension, Hypothyroidism	ORPHA:98808
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit...	ORPHA:91350
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Hypospadias, Hypertension, 3-Methylglutaconic aciduria, Arrhythmia, Hypertrophic cardiomyopathy	OMIM:614052
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Increased circulating dehydroepiandrostero...	OMIM:201810
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Central adrenal insufficiency, Hypogonadotropic hypogonadism, Small pituitary gland, Delayed puberty	OMIM:612079
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Ventricular septal defect, Retinal hemorrhage, Hyperhidrosis, Hypertension, Bradycardia	OMIM:614653
Prader-Willi Syndrome	Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Dec...	ORPHA:739
Bardet-Biedl Syndrome 1	Diabetes mellitus, Aganglionic megacolon, Abnormality of the kidney, Nephrogenic diabetes insipid...	OMIM:209900
Mirage Syndrome	Recurrent urinary tract infections, Hypospadias, Hypergonadotropic hypogonadism, Adrenal hypoplas...	OMIM:617053
Peroxisome Biogenesis Disorder 4B	Hepatomegaly, Decreased nerve conduction velocity, Optic atrophy, Adrenal insufficiency, Ureterocele	OMIM:614863
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Renal artery aneurysm, Portal hypertension, Raynaud phenomenon, Splenomegaly, Dilat...	OMIM:615688
Acute Interstitial Pneumonia	Pericardial effusion, Hypertension	ORPHA:79126
Alternating Hemiplegia Of Childhood	Cardiac conduction abnormality, Hyperhidrosis, Cardiomyopathy, Abnormal autonomic nervous system ...	ORPHA:2131
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, ...	ORPHA:91387
Neurodegeneration With Brain Iron Accumulation 5	Abnormal autonomic nervous system physiology	OMIM:300894
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatomegaly, Proteinuria, Epistaxis, Thyroiditis, Stage 5 chronic kidney disease, Nephrolithiasi...	ORPHA:79259
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Decreased circulating cortisol level, Renal salt wasting, Premature adrenarche, Hypogonadotropic ...	ORPHA:90794
Postinfectious Vasculitis	Cerebral vasculitis, Membranoproliferative glomerulonephritis, Proteinuria, Glomerulonephritis, A...	ORPHA:48435
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Anuria, Myocardial infarction, Hemoglobinuria, Hypertension, Acute kidney injury, Pancreatitis	ORPHA:90038
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome	Decreased distal sensory nerve action potential, Abnormal autonomic nervous system physiology	OMIM:614575
Poems Syndrome	Papilledema, Diabetes mellitus, Abnormality of the endocrine system, Pericardial effusion, Primar...	ORPHA:2905
Neonatal Adrenoleukodystrophy	Optic atrophy, Primary adrenal insufficiency	ORPHA:44
Paroxysmal Nocturnal Hemoglobinuria	Hemosiderinuria, Renal insufficiency, Proteinuria, Myocardial infarction, Pulmonary embolism, Chr...	ORPHA:447
Pearson Syndrome	Hypoparathyroidism, Hepatomegaly, Renal insufficiency, Diabetes mellitus, Proteinuria, Decreased ...	ORPHA:699
Hardikar Syndrome	Hypoplasia of the bladder, Decreased serum insulin-like growth factor 1, Renal insufficiency, Rec...	OMIM:301068
Infection-Related Hemolytic Uremic Syndrome	Diabetes mellitus, Anuria, Myocarditis, Oliguria, Hypertension, Decreased urine output, Acute kid...	ORPHA:544482
Parkinson Disease, Late-Onset	Urinary urgency, Abnormal autonomic nervous system physiology	OMIM:168600
Adrenomyodystrophy	Abnormality of the urinary system, Primary adrenal insufficiency, Megacystis	ORPHA:977
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve...	ORPHA:555874
Multisystemic Smooth Muscle Dysfunction Syndrome	Atrial septal defect, Hypertension, Pulmonary arterial hypertension	OMIM:613834
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Poliomyelitis	Hypertension, Hypovolemic shock, Abnormal motor nerve conduction velocity, Hypotension	ORPHA:2912
Nestor-Guillermo Progeria Syndrome	Left atrial enlargement, Decreased serum leptin, Right bundle branch block, Hypertension, Mitral ...	OMIM:614008
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Hepatosplenomegaly, Hypogonadism, Adrenal insufficiency, Abnormality of the hypothalamus-pituitar...	ORPHA:300298
Haddad Syndrome	Aganglionic megacolon, Abnormal autonomic nervous system physiology	ORPHA:99803
Flynn-Aird Syndrome	Abnormality of the thyroid gland, Primary adrenal insufficiency, Type II diabetes mellitus	ORPHA:2047
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros...	ORPHA:95699
Lipodystrophy, Familial Partial, Type 2	Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hyperten...	OMIM:151660
Carey-Fineman-Ziter Syndrome	Hydronephrosis, Facial palsy, Glandular hypospadias, Hypertensive crisis	ORPHA:1358
Classic Homocystinuria	Gastrointestinal hemorrhage, Hepatomegaly, Pulmonary embolism, Optic atrophy, Intracranial hemorr...	ORPHA:394
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Recurrent urinary tract infections, Renal insufficiency, Portal hype...	ORPHA:731
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Abnormal autonomic nervous system physiology, Urinary incontinence, Abnormal cranial nerve morpho...	ORPHA:247234
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Hematemesis, Pericardial effusion, Splenomegaly, Vasculitis, Hematochezia, Nephroti...	OMIM:615846
Blau Syndrome	Clear cell renal cell carcinoma, Pericarditis, Facial palsy, Splenomegaly, Xerostomia, Stage 5 ch...	ORPHA:90340
Arterial Tortuosity Syndrome	Aortic regurgitation, Ventricular hypertrophy, Hypertension, Ischemic stroke, Aortic valve stenos...	OMIM:208050
Myhre Syndrome	Abnormal penis morphology, Hypospadias, Precocious puberty, Epispadias, Hypertension, Abnormal ca...	ORPHA:2588
Arterial Tortuosity Syndrome	Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failure, Myoc...	ORPHA:3342
Pierson Syndrome	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Retinal hemorrhage, Nep...	OMIM:609049
Zellweger Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Hypospadias, Ventricular septal defect, Optic atrophy...	ORPHA:912
Blau Syndrome	Hypertension, Pericarditis, Abnormal cranial nerve morphology	OMIM:186580
Adrenoleukodystrophy	Hypogonadism, Urinary bladder sphincter dysfunction, Primary adrenal insufficiency, Urinary incon...	OMIM:300100
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Hypertension, Optic atrophy	ORPHA:1555
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills	Abnormal autonomic nervous system physiology	OMIM:617903
Cockayne Syndrome A	Anhidrosis, Renal insufficiency, Hepatomegaly, Proteinuria, Abnormal auditory evoked potentials, ...	OMIM:216400
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Optic nerve hypoplasia, Abnormal autonomic nervous system physiology	ORPHA:300570
Scalp-Ear-Nipple Syndrome	Renal insufficiency, Unilateral renal agenesis, Congestive heart failure, Cardiac myxoma, Renal h...	OMIM:181270
Systemic Lupus Erythematosus	Proteinuria, Lupus nephritis, Pyuria, Raynaud phenomenon, Hematuria, Hypertension	ORPHA:536
Ane Syndrome	Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior pituitary h...	ORPHA:157954
Ramos-Arroyo Syndrome	Aganglionic megacolon, Atrial septal defect, Xerostomia, Abnormal autonomic nervous system physio...	ORPHA:1051
Parkinsonian-Pyramidal Syndrome	Neurogenic bladder, Abnormal autonomic nervous system physiology	ORPHA:171695
Nmda Receptor Encephalitis	Orthostatic hypotension, Orthostatic tachycardia, Neoplasm of the thymus, Abnormal autonomic nerv...	ORPHA:217253
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of penis, Streak ovary, Hypergonadotropic hypogonadism, Hypospadias, Elevated circulat...	ORPHA:251510
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hypertension, Mitral valve prolapse	OMIM:616914
Cockayne Syndrome B	Anhidrosis, Renal insufficiency, Hepatomegaly, Proteinuria, Abnormal auditory evoked potentials, ...	OMIM:133540
Homozygous Familial Hypercholesterolemia	Angina pectoris, Sudden cardiac death, Myocardial infarction, Optic neuropathy, Renal steatosis, ...	ORPHA:391665
Stuve-Wiedemann Syndrome 1	Pulmonary arterial hypertension, Abnormal autonomic nervous system physiology, Hyperhidrosis	OMIM:601559
Mucopolysaccharidosis Type 2, Severe Form	Papilledema, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Heparan sulfat...	ORPHA:217085
Lysosomal Acid Lipase Deficiency	Adrenal calcification, Renal salt wasting, Abnormal urine potassium concentration, Primary adrena...	ORPHA:275761
Rett Syndrome	Abnormal autonomic nervous system physiology, Increased serum leptin	ORPHA:778
Acromegaly	Diabetes mellitus, Hypogonadotropic hypogonadism, Dysuria, Elevated circulating growth hormone co...	ORPHA:963
Cockayne Syndrome	Anhidrosis, Neurogenic bladder, Diabetes mellitus, Renal insufficiency, Urinary incontinence, Uni...	ORPHA:191
Mucopolysaccharidosis Type 2, Attenuated Form	Papilledema, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Heparan sulfat...	ORPHA:217093
Cushing Disease	Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c...	ORPHA:96253
Combined Oxidative Phosphorylation Defect Type 29	Abnormal autonomic nervous system physiology, Optic neuropathy	ORPHA:478029
Hunter-Macdonald Syndrome	Aortic regurgitation, Bicuspid aortic valve, Hypospadias, Mitral valve prolapse, Hypertension, Mi...	OMIM:611962
Pseudohypoparathyroidism Type 1A	Prolonged QT interval, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimu...	ORPHA:79443
Parkinson Disease 23, Autosomal Recessive Early-Onset	Abnormal autonomic nervous system physiology	OMIM:616840
Beare-Stevenson Cutis Gyrata Syndrome	Hypertension, Optic atrophy, Hypospadias	OMIM:123790
Somatomammotropinoma	Diabetes mellitus, Hypogonadotropic hypogonadism, Dysuria, Elevated circulating growth hormone co...	ORPHA:314769
Xp21 Deletion Syndrome	Primary adrenal insufficiency, Hypogonadotropic hypogonadism, Adrenal insufficiency	ORPHA:261476
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Decreased res...	ORPHA:293978
Mucopolysaccharidosis Type 2	Papilledema, Hepatomegaly, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, ...	ORPHA:580
Apert Syndrome	Hypertension, Optic atrophy	ORPHA:87
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Decreased response to growth hormone stimulation test, Central diabetes insipidus, Adrenocorticot...	ORPHA:293987
Williams-Beuren Syndrome	Bicuspid aortic valve, Nephrocalcinosis, Early onset of sexual maturation, Vesicoureteral reflux,...	OMIM:194050
Young-Onset Parkinson Disease	Abnormal autonomic nervous system physiology	ORPHA:2828
Adams-Oliver Syndrome 1	Bicuspid aortic valve, Ventricular septal defect, Hypertension, Hypoplastic left heart, Pulmonic ...	OMIM:100300
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Hepatomegaly, Stage 5 chronic kidney disease, Renal cyst, Hepatosplenomegal...	OMIM:266920
Peroxisome Biogenesis Disorder 2B	Adrenal insufficiency	OMIM:202370
Au-Kline Syndrome	Chronic kidney disease, Dilatation of the renal pelvis, Hypertension, Vesicoureteral reflux, Hydr...	OMIM:616580
Tbck-Related Intellectual Disability Syndrome	Neurogenic bladder, Hyperthyroidism, Ventricular septal defect, Decreased response to growth horm...	ORPHA:488632
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Abnormal tubuloi...	ORPHA:904
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Fingerpad telangiectas...	OMIM:600376
Tick-Borne Encephalitis	Facial palsy, Abnormal glossopharyngeal nerve morphology, Abnormal autonomic nervous system physi...	ORPHA:297
Leprosy	Epistaxis, Abnormality of the seventh cranial nerve, Hypohidrosis, Abnormality of the adrenal gla...	ORPHA:548
Beckwith-Wiedemann Syndrome	Hepatomegaly, Adrenocortical cytomegaly, Cardiomegaly, Adrenocortical carcinoma, Pancreatic hyper...	OMIM:130650
Smith-Lemli-Opitz Syndrome	Ureteropelvic junction obstruction, Duplicated collecting system, Hepatomegaly, Hypospadias, Rena...	OMIM:270400
Histidinemia	Hyperactivity	ORPHA:2157
Immunodeficiency, Common Variable, 10	Central adrenal insufficiency, Abnormal response to ACTH stimulation test, Decreased response to ...	OMIM:615577
Orofaciodigital Syndrome Type 1	Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Hypertension, Hydronephrosis, Exo...	ORPHA:2750
Prader-Willi Syndrome	Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Precocious ...	OMIM:176270
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio...	ORPHA:98754
Acute Liver Failure	Gastrointestinal hemorrhage, Shock, Intracranial hemorrhage, Adrenal insufficiency, Hypotension, ...	ORPHA:90062
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ...	ORPHA:3427
Cranioectodermal Dysplasia 2	Hepatomegaly, Renal insufficiency, Splenomegaly, Renal cyst, Hypertension, Atrial septal defect, ...	OMIM:613610
Autoimmune Polyendocrinopathy Type 3	Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Xerostomia, Primary adrenal insuff...	ORPHA:227982
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Hyperphosphaturia, Transient ischemic attack, Adrenal calcification, Lef...	ORPHA:51608
22Q11.2 Deletion Syndrome	Hypoplasia of the thymus, Atrial septal defect, Vesicoureteral reflux, Hypothyroidism, Hypoparath...	ORPHA:567
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio...	ORPHA:98793
Koolen-De Vries Syndrome Due To A Point Mutation	Atrial septal defect, Recurrent urinary tract infections, Hypospadias, Decreased response to grow...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Atrial septal defect, Recurrent urinary tract infections, Hypospadias, Decreased response to grow...	ORPHA:363958
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio...	ORPHA:177904
Hutchinson-Gilford Progeria Syndrome	Myocardial infarction, Intracranial hemorrhage, Raynaud phenomenon, Mitral stenosis, Aortic valve...	ORPHA:740
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio...	ORPHA:177901
Hallermann-Streiff Syndrome	Hypertension, Optic disc coloboma, Pulmonary arterial hypertension, Telangiectasia	OMIM:234100
Neurofibromatosis, Type I	Parathyroid adenoma, Hypertension, Pheochromocytoma, Renal artery stenosis	OMIM:162200
Immunodeficiency 87 And Autoimmunity	Hepatomegaly, Dilated cardiomyopathy, Biventricular hypertrophy, Hypertension, Third degree atrio...	OMIM:619573
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Cardiomegaly, Congestive heart fa...	ORPHA:980
Autoimmune Polyendocrinopathy Type 4	Hypergonadotropic hypogonadism, Xerostomia, Primary adrenal insufficiency, Thymoma, Anterior pitu...	ORPHA:227990
Orofaciodigital Syndrome I	Hypertension, Proteinuria, Polycystic kidney dysplasia, Abnormal heart morphology	OMIM:311200
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Decreased circulating dehydroepiandrosterone concentration, Decreased circulating androstenedione...	OMIM:201750
Marshall-Smith Syndrome	Ventricular septal defect, Optic nerve hypoplasia, Premature ventricular contraction, Hypertensio...	OMIM:602535
Atypical Werner Syndrome	Renal neoplasm, Diabetes mellitus, Telangiectasia of the skin, Abnormal circulating leptin concen...	ORPHA:79474
Autoimmune Polyendocrine Syndrome, Type Ii	Hyperthyroidism, Primary adrenal insufficiency, Thymoma, Type II diabetes mellitus, Hypothyroidis...	OMIM:269200
Lipodystrophy, Familial Partial, Type 7	Orthostatic hypotension, Polyuria, Hypertension, Recurrent pancreatitis, Type I diabetes mellitus...	OMIM:606721
Familial Osteodysplasia, Anderson Type	Hypertension	ORPHA:2769
Cushing Syndrome Due To Ectopic Acth Secretion	Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c...	ORPHA:99889
D-Bifunctional Protein Deficiency	Hepatomegaly, Decreased nerve conduction velocity, Splenomegaly, Primary adrenal insufficiency, R...	OMIM:261515
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Central adrenal insufficiency, Telangiectasia of the skin, Decreased response to growth hormone s...	OMIM:616007
Turner Syndrome Due To Structural X Chromosome Anomalies	Prolonged QT interval, Bicuspid aortic valve, High urinary gonadotropin level, Ectopic kidney, Re...	ORPHA:99413
Turner Syndrome	Prolonged QT interval, Bicuspid aortic valve, High urinary gonadotropin level, Ectopic kidney, Re...	ORPHA:881
Mosaic Monosomy X	Prolonged QT interval, Bicuspid aortic valve, High urinary gonadotropin level, Ectopic kidney, Re...	ORPHA:99228
Monosomy X	Prolonged QT interval, Bicuspid aortic valve, High urinary gonadotropin level, Ectopic kidney, Re...	ORPHA:99226
Yunis-Varon Syndrome	Hypospadias, Ventricular septal defect, Cardiomegaly, Renovascular hypertension, Hypertension, Ca...	ORPHA:3472
Congenital Disorder Of Glycosylation, Type Iim	Ureteropelvic junction obstruction, Hypertension, Vesicovaginal fistula, Atrial septal defect	OMIM:300896
Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Increased urinary glycerol, Adrenal insufficiency, Chronic pancreatitis	OMIM:307030
Stüve-Wiedemann Syndrome	Hypohidrosis, Hyperhidrosis, Abnormal autonomic nervous system physiology, Ectopic thyroid, Hypot...	ORPHA:3206
Carney Complex	Euthyroid multinodular goiter, Follicular thyroid carcinoma, Elevated circulating growth hormone ...	ORPHA:1359
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal agenesis, Aganglionic...	OMIM:308205
Microphthalmia, Syndromic 2	Hypospadias, Ventricular septal defect, Dextrocardia, Double outlet right ventricle, Mitral valve...	OMIM:300166
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Ketonuria, Hypospadias, Bicuspid aortic valve, Mitral atresia, Aortic valve atresia, Hypertension...	OMIM:220111
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca...	ORPHA:3384
Myhre Syndrome	Ventricular septal defect, Pericardial effusion, Hypertension, Atrial septal defect, Aortic valve...	OMIM:139210
Neurofibromatosis Type 1	Abnormality of the upper urinary tract, Abnormality of the endocrine system, Precocious puberty, ...	ORPHA:636
17Q11 Microdeletion Syndrome	Telangiectasia of the skin, Precocious puberty, Renovascular hypertension, Glomus jugular tumor, ...	ORPHA:97685
Alström Syndrome	Decreased response to growth hormone stimulation test, Urinary incontinence, Elevated circulating...	ORPHA:64
X-Linked Cerebral Adrenoleukodystrophy	Male hypogonadism, Decreased circulating cortisol level, Primary adrenal insufficiency	ORPHA:139396
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Ventricular septal defect, Muscular ventricular septal defect, Renal hypoplasia, Renal cyst, Hype...	OMIM:210710
Choreoacanthocytosis	Hepatomegaly, Splenomegaly, Dilated cardiomyopathy, Abnormal autonomic nervous system physiology,...	ORPHA:2388
Keutel Syndrome	Hypertension, Ventricular septal defect, Pulmonic stenosis	OMIM:245150
Pallister-Hall Syndrome	Adrenal hypoplasia, Ectopic kidney, Gonadotropin deficiency, Atrial septal defect, Micropenis, At...	ORPHA:672
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s...	ORPHA:99125
Vascular Ehlers-Danlos Syndrome	Hypospadias, Telangiectasia of the skin, Transient ischemic attack, Abnormal heart valve morpholo...	ORPHA:286
Orofaciodigital Syndrome Type 4	Renal agenesis, Primary adrenal insufficiency, Renal hypoplasia/aplasia	ORPHA:2753
Blepharospasm, Benign Essential, Susceptibility To		OMIM:606798

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Drd5

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Drd5.

No publications found that use IMPC mice or data for Drd5.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Drd5^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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