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Gene: Atp6ap2 MGI:1917745

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
ATPase, H+ transporting, lysosomal accessory protein 2
Synonyms:
5730403E06Rik,  (P)RR,  renin/prorenin receptor,  Atp6ip2,  M8-9

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 Atp6ap2 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.

The table below shows human diseases associated to Atp6ap2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
X-Linked Intellectual Disability, Hedera Type
Left ventricular hypertrophy, Obesity ORPHA:93952
Congenital Disorder Of Glycosylation, Type Iir
Elevated hepatic transaminase, Hepatomegaly, Hypospadias, Jaundice, Micronodular cirrhosis, Decre... OMIM:301045
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
OMIM:300423
Parkinsonism With Spasticity, X-Linked
OMIM:300911
X-Linked Parkinsonism-Spasticity Syndrome
ORPHA:363654

The table below shows human diseases predicted to be associated to Atp6ap2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ... OMIM:615703
Coronary Artery Disease, Autosomal Dominant, 1
Hypertension, Hypercholesterolemia, Obesity, Myocardial infarction OMIM:608320
Abdominal Obesity-Metabolic Syndrome 1
Hypertension, Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension, Abdominal obesity OMIM:605572
Polycystic Kidney Disease 7
Hypertension, Renal insufficiency, Multiple renal cysts, Stage 5 chronic kidney disease OMIM:620056
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... ORPHA:280356
Preeclampsia/Eclampsia 1
Elevated hepatic transaminase, Hypertension, Proteinuria OMIM:189800
Preeclampsia
Elevated hepatic transaminase, Increased body mass index, Small for gestational age, Proteinuria,... ORPHA:275555
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... OMIM:161900
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... OMIM:608600
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Proteinuria, Myocardial infarction, Chronic kidney disease, Stage 5 chronic ... ORPHA:54370
Spastic Paraplegia-Nephritis-Deafness Syndrome
Hypertension, Nephropathy, Proteinuria ORPHA:2820
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Hypertension, Polycystic kidney dysplasia, Re... OMIM:617610
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Trimethylaminuria
Splenomegaly, Hypertension, Tachycardia, Trimethylaminuria OMIM:602079
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Nephrotic syndrom... OMIM:601894
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Increased adipose tissue, Obesity, Hypertension, Childhood-onset truncal ob... ORPHA:71529
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Glomerulopathy With Fibronectin Deposits 1
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Nephrotic syndrom... OMIM:137950
Amyloidosis, Familial Visceral
Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Hypertension, Nephrotic syndrome... OMIM:105200
Focal Segmental Glomerulosclerosis 2
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Hypertension, Focal segmenta... OMIM:603965
Coproporphyria, Hereditary
Hepatomegaly, Tachycardia, Splenomegaly, Jaundice, Hypertension, Increased urinary porphobilinoge... OMIM:121300
Nail-Patella-Like Renal Disease
Hypertension, Renal insufficiency, Microscopic hematuria, Proteinuria ORPHA:2613
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Sudden cardiac death, Myocardial infarction, Increased LDL cholesterol conc... OMIM:610947
Lessel-Kubisch Syndrome
Hypertension, Renal insufficiency, Hypogonadism, Renal hypoplasia OMIM:618681
Melorheostosis With Osteopoikilosis
Hypertension, Multiple lipomas ORPHA:1879
Coenzyme Q10 Deficiency, Primary, 8
Small for gestational age, Flexion contracture, Elevated circulating creatinine concentration, Hy... OMIM:616733
Iga Nephropathy, Susceptibility To, 2
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis OMIM:613944
Senior-Loken Syndrome
Premature ovarian insufficiency, Congenital hepatic fibrosis, Chronic kidney disease, Stage 5 chr... ORPHA:3156
Maternally-Inherited Diabetes And Deafness
Renal insufficiency, Proteinuria, Congestive heart failure, Hypertension, Arrhythmia, Hypertrophi... ORPHA:225
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2
Lacunar stroke, Hypertension, Transient ischemic attack OMIM:616779
Focal Segmental Glomerulosclerosis 5
Proteinuria, Stage 5 chronic kidney disease, Hypertension, Focal segmental glomerulosclerosis, Mi... OMIM:613237
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Irregular menstruation, Hypertension, Hepatic ... OMIM:615238
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Lipodystrophy, Lipoatrophy, Hypertension, Oligomenorrhea, Hepatic steatosis OMIM:613877
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Proteinuria, Hematuria, Hypertension, Focal segmental glomerulosclerosis OMIM:607832
Fibronectin Glomerulopathy
Renal insufficiency, Proteinuria, Cerebral hemorrhage, Hypertension, Nephrotic syndrome, Hypoalbu... ORPHA:84090
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension OMIM:166990
Iga Nephropathy, Susceptibility To, 3
Hematuria, Hypertension, Proteinuria, Stage 5 chronic kidney disease OMIM:616818
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Lipoatrophy, Hypertension, Hepatic steatosis, Pancreatitis ORPHA:79084
Lipodystrophy, Familial Partial, Type 6
Lipodystrophy, Elevated circulating creatine kinase concentration, Hyperlipidemia, Hypertension, ... OMIM:615980
Multifocal Atrial Tachycardia
Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect... ORPHA:3282
Liddle Syndrome
Renal insufficiency, Hypertension, Hypokalemia, Cerebral ischemia, Nephropathy, Arrhythmia ORPHA:526
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Nephrocal... OMIM:614473
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Focal Segmental Glomerulosclerosis 1
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Hypertension, Focal segmental glomer... OMIM:603278
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ... OMIM:604367
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Hype... ORPHA:1345
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo... ORPHA:85450
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... ORPHA:563
Iga Nephropathy, Susceptibility To, 1
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis OMIM:161950
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Rhabdoid Tumor
Hypercalcemia, Weight loss, Hematuria, Hypertension, Neoplasm of the liver, Internal hemorrhage ORPHA:69077
Heme Oxygenase 1 Deficiency
Hepatomegaly, Proteinuria, Epistaxis, Elevated circulating aspartate aminotransferase concentrati... OMIM:614034
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Dextrocardia, Elevated circulating alpha-fetoprotein concentra... OMIM:613095
Pparg-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipoatrophy, Dy... ORPHA:79083
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Congestive heart failure, Abnormal left ventricular function, Hyp... OMIM:540000
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Hypertension, Cardiomyopathy, Hyperuricemia, Arrhythmia ORPHA:3222
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Lipodystrophy, Proteinuria, Chronic kidney disease, Ele... ORPHA:329918
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Cholestasis, Hematuria, Hypertens... OMIM:610205
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Liver abscess, Hypercholesterolemia, Cholangitis, Overweight, Intr... ORPHA:69663
Nephronophthisis 18
Stage 5 chronic kidney disease, Cholestasis, Hypertension, Tubulointerstitial nephritis, Portal f... OMIM:615862
Idiopathic Non-Lupus Full-House Nephropathy
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Elevated circulating... ORPHA:567544
Analbuminemia
Lipodystrophy, Elevated circulating transferrin concentration, Increased LDL cholesterol concentr... OMIM:616000
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Increased serum pyruvate, Increased adipose tissue, Congestive heart failure, Dilated cardiomyopa... ORPHA:1349
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... ORPHA:66529
Cystic Hamartoma Of Lung And Kidney
Hypertension, Multicystic kidney dysplasia ORPHA:2111
Pheochromocytoma/Paraganglioma Syndrome 6
Hypertension OMIM:618464
Familial Cervical Artery Dissection
Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral hemorrhage, Hypertension, ... ORPHA:36382
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Takayasu Arteritis
Abnormal endocardium morphology, Abnormal heart valve morphology, Myocardial infarction, Vasculit... ORPHA:3287
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Situs inversus totalis, Hyperkalemia, Stage 5 ... OMIM:602088
Polyarteritis Nodosa
Pericarditis, Elevated circulating C-reactive protein concentration, Raynaud phenomenon, Weight l... ORPHA:767
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Reduced intraabdominal a... ORPHA:363400
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Proteinuria, Cardiac ... ORPHA:439232
Apparent Mineralocorticoid Excess
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypertension, Hypokal... ORPHA:320
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Proteinuria, Cryptorchidism, Hypertension, Nephrotic syndrome, Abnormal mitral valve morphology, ... ORPHA:1192
Coach Syndrome 2
Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated circulating creatinine conce... OMIM:619111
Spermatogenic Failure, X-Linked, 6
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... OMIM:301101
Brachydactyly-Arterial Hypertension Syndrome
Hypertension ORPHA:1276
Renal Hypoplasia, Bilateral
Hyponatremia, Small for gestational age, Proteinuria, Microscopic hematuria, Cryptorchidism, Chro... ORPHA:97362
Hypertension And Brachydactyly Syndrome
Hypertension OMIM:112410
Non-Functioning Paraganglioma
Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive heart failu... ORPHA:94080
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Apparent Mineralocorticoid Excess
Small for gestational age, Hypertension, Hypokalemia, Failure to thrive, Decreased circulating re... OMIM:218030
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Dicarboxylic aciduria, Card... OMIM:212138
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level, Hypotension, F... OMIM:203400
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size ORPHA:98797
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Mitral valve prolapse, Hypertension, Mitral regurgitation, Polycystic kidney... OMIM:173900
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Myocardia... OMIM:618620
Nephroblastoma
Hematuria, Hypertension, Neoplasm of the liver, Weight loss ORPHA:654
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Atrial fibrillation, Proteinuria, Dysuria, Chronic kidney disease, Nephrolit... ORPHA:976
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Hypertension, Telangiectases producing 'marbled' skin OMIM:206570
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism, Inguinal hernia OMIM:261550
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Overriding aorta, Ventricular septal defect, Small for gestational age, Hematuria, Hypertension, ... OMIM:617021
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Renal insufficiency, Proteinuria, Acut... OMIM:619487
Mitochondrial Trifunctional Protein Deficiency 2
Tricuspid regurgitation, Increased circulating NT-proBNP concentration, Recurrent myoglobinuria, ... OMIM:620300
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Sneddon Syndrome
Intracranial hemorrhage, Hypertension, Nephropathy ORPHA:820
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Bardet-Biedl Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Obesity, Hypertension, Nephrot... ORPHA:110
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Hepatic cysts, Stage 5 chronic kidney disease, Hypertension, Polycystic kidn... OMIM:618061
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Polycystic liver disease, Hepatic cysts, Pancreatic cysts, Chronic kidney di... ORPHA:730
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... ORPHA:729
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level, Hypotensi... ORPHA:556037
Moyamoya Disease 6 With Or Without Achalasia
Raynaud phenomenon, Hypertension, Impotence, Ischemic stroke OMIM:615750
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Ochoa Syndrome
Renal insufficiency, Urinary incontinence, Cryptorchidism, Urethral obstruction, Hypertension, Ve... ORPHA:2704
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hypertension, Hepatic cysts, Decreased liver function, Polycystic kidney dysplasia OMIM:600666
Cirrhosis, Familial
Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Increased level of L-fu... OMIM:215600
Glutaric Aciduria Iii
Hypertension, Glutaric aciduria, Failure to thrive OMIM:231690
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Abnormal cardiovascular syst... ORPHA:79086
Grange Syndrome
Aortic regurgitation, Hypertension, Ventricular septal defect ORPHA:79094
Inflammatory Skin And Bowel Disease, Neonatal, 2
Hypertension, Failure to thrive OMIM:616069
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Sneddon Syndrome
Bicuspid aortic valve, Cerebral hemorrhage, Hypertension, Atrophic scars, Ischemic stroke OMIM:182410
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... OMIM:612925
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Ventricular septal defect, Flexion contracture, Interphalangeal thumb joint contract... OMIM:613870
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Nephrolithiasis, Biventricular hypertrophy, Hypertension, Second degre... OMIM:615474
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ... OMIM:151660
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level, Hypotensi... ORPHA:556030
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome... OMIM:263200
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612926
Aa Amyloidosis
Hepatomegaly, Proteinuria, Chronic kidney disease, Cholestasis, Abnormal heart morphology, Nephro... ORPHA:85445
Potocki-Shaffer Syndrome
Hypertension, Micropenis ORPHA:52022
Stiff Skin Syndrome
Hypertension, Abnormal circulating lipid concentration, Lipoatrophy, Nephrolithiasis ORPHA:2833
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612924
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating C-reactive protein concentration, Large vessel vasculitis, Retrograde ejacul... ORPHA:49041
Xfe Progeroid Syndrome
Elevated hepatic transaminase, Renal insufficiency, Premature ovarian insufficiency, Proteinuria,... OMIM:610965
Pseudo-Torch Syndrome 3
Proteinuria, Cerebral hemorrhage, Cardiomegaly, Increased circulating ferritin concentration, Hyp... OMIM:618886
Alstrom Syndrome
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Chronic active hepatitis, Hyper... OMIM:203800
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Hypertension, Aminoaciduria, Glyco... OMIM:618913
Moyamoya Disease With Early-Onset Achalasia
Raynaud phenomenon, Hypertension ORPHA:401945
Multicentric Carpotarsal Osteolysis Syndrome
Renal insufficiency, Proteinuria, Congenital diaphragmatic hernia, Stage 5 chronic kidney disease... OMIM:166300
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated creatine kinase afte... ORPHA:159
Denys-Drash Syndrome
Hypertension, Nephropathy, Nephrotic syndrome, Proteinuria ORPHA:220
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Renal salt wasting, Hyperkalemia, Hypotension, Failure to thrive OMIM:264350
Pseudohypoaldosteronism Type 2
Hypertension, Hyperkalemia, Abnormal dental enamel morphology ORPHA:757
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Renal salt wasting, Elevated circulat... OMIM:174000
Renal Hypoplasia
Renal insufficiency, Urethral valve, Small for gestational age, Proteinuria, Unilateral renal age... ORPHA:93101
Fabry Disease
Renal insufficiency, Angina pectoris, Transient ischemic attack, Myocardial infarction, Proteinur... OMIM:301500
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio... OMIM:615812
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Epistaxis, Hypercalciuria, Intracranial hemorrhage, Hypertension, Hypokale... ORPHA:251274
Riboflavin Transporter Deficiency
Hypertension, Hypogonadism, Cachexia ORPHA:97229
Gaisböck Syndrome
Hypertriglyceridemia, Angina pectoris, Myocardial infarction, Overweight, Splenomegaly, Hypovolem... ORPHA:90041
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... ORPHA:90065
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Azoosp... ORPHA:280679
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev... OMIM:171420
Neuroendocrine Tumor Of The Colon
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cu... ORPHA:100080
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,... OMIM:145600
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Oligomeganephronia
Renal insufficiency, Small for gestational age, Proteinuria, Congenital diaphragmatic hernia, Uni... ORPHA:2260
Systemic Capillary Leak Syndrome
Pericarditis, Renal insufficiency, Myocarditis, Oliguria, Weight loss, Hypotension, Arrhythmia, P... ORPHA:188
Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Renal salt wasting, Decreased urinary potassium, Hypovolem... ORPHA:427
Corticosteroid-Binding Globulin Deficiency
Hypertension, Hypokalemia, Hypotension, Decreased urinary potassium OMIM:611489
Cardiomyopathy, Familial Restrictive, 3
Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ... OMIM:612422
Obesity Due To Sim1 Deficiency
Postural hypotension with compensatory tachycardia, Obesity, Hypotension ORPHA:369873
Cryoglobulinemia, Familial Mixed
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Hy... OMIM:123550
Coach Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Sple... OMIM:216360
Senior-Boichis Syndrome
Elevated hepatic transaminase, Portal hypertension, Malformation of the hepatic ductal plate, Con... ORPHA:84081
Sickle Cell Disease
Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Hema... OMIM:603903
Methanol Poisoning
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... ORPHA:31825
Liddle Syndrome 1
Hypertension, Renal insufficiency, Hypokalemia, Decreased circulating renin level OMIM:177200
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Birk-Landau-Perez Syndrome
Stage 3 chronic kidney disease, Renal insufficiency, Failure to thrive in infancy, Hyperkalemia, ... OMIM:617595
Erythrocytosis, Familial, 1
Splenomegaly, Hypertension, Cerebral hemorrhage, Myocardial infarction OMIM:133100
Perry Syndrome
Hypotension, Weight loss ORPHA:178509
Pituitary Adenoma 1, Multiple Types
Left ventricular hypertrophy, Hypertension, Irregular menstruation, Cardiomyopathy OMIM:102200
Aortic Arch Interruption
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... ORPHA:2299
Hyperaldosteronism, Familial, Type Ii
Hypertension, Hypokalemia OMIM:605635
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Cerebral hemorrhage, Stress urinary incontinence, Intracranial hemorrh... ORPHA:136
Porphyria Variegata
Elevated hepatic transaminase, Hyponatremia, Tachycardia, Neurogenic bladder, Scarring, Abnormal ... ORPHA:79473
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Abnormal dental enamel morphology, Hyperca... ORPHA:251004
Sporadic Pheochromocytoma/Secreting Paraganglioma
Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestiv... ORPHA:276621
Neuroendocrine Tumor Of The Rectum
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cu... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cu... ORPHA:100082
Pseudohypoaldosteronism, Type Iia
Hypertension, Hyperkalemia OMIM:145260
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hyperalaninemia, Inguinal hernia, Small for gestational age, Hypospadias, Cryptorchidism, Hyperam... OMIM:614052
Frasier Syndrome
Renal insufficiency, Streak ovary, Proteinuria, Hypergonadotropic hypogonadism, Primary amenorrhe... ORPHA:347
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypertension, Hypospadias, Renal salt wasting OMIM:201910
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension, Failure to thrive OMIM:177735
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... OMIM:264800
Hemorrhagic Fever-Renal Syndrome
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... ORPHA:340
Alagille Syndrome
Hepatomegaly, Ventricular septal defect, Telangiectasia of the skin, Cryptorchidism, Abnormality ... ORPHA:52
Lead Poisoning
Decreased HDL cholesterol concentration, Decreased female libido, Small for gestational age, Abno... ORPHA:330015
Neuroblastoma, Susceptibility To, 1
Elevated urinary catecholamine level, Elevated urinary dopamine level, Abnormality of urine catec... OMIM:256700
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Increased urinary potassium, Intracranial hemorrhage, Hypertension, Hypokalemia, Palpi... ORPHA:231625
Methylcobalamin Deficiency Type Cble
Hypomethioninemia, Hemolytic-uremic syndrome, Hyperhomocystinemia, Hypertension, Abnormality of t... ORPHA:2169
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size ORPHA:98798
Snakebite Envenomation
Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral is... ORPHA:449285
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephri... ORPHA:91139
Morgagni-Stewart-Morel Syndrome
Hypertension, Hypercholesterolemia, Obesity, Hyperuricemia ORPHA:77296
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Nephrolithiasis, Intracranial hemo... ORPHA:369929
Porphyria, Acute Intermittent
Tachycardia, Dysuria, Urinary incontinence, Hypertension, Urinary retention, Hepatocellular carci... OMIM:176000
Relapsing Fever
Elevated hepatic transaminase, Tachycardia, Epistaxis, Elevated circulating C-reactive protein co... ORPHA:91547
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Hyperlipidemia, Nephrolithiasis, Hypert... OMIM:232200
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Hypertension, Decreased circulating renin level OMIM:605115
Schimke Immuno-Osseous Dysplasia
Transient ischemic attack, Small for gestational age, Microscopic hematuria, Minimal change glome... ORPHA:1830
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Hypertension, Abdominal obesity, Increased body weight OMIM:615954
Gaucher Disease, Type I
Hepatomegaly, Epistaxis, Hypersplenism, Splenomegaly, Hypertension, Mitral regurgitation, Pulmona... OMIM:230800
Pediatric-Onset Graves Disease
Elevated hepatic transaminase, Hepatomegaly, Atrial fibrillation, Congestive heart failure, Splen... ORPHA:525731
Hyperaldosteronism, Familial, Type Iii
Polyuria, Hypercalciuria, Hypertension, Hypokalemia, Decreased circulating renin level OMIM:613677
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Proteinuria, Nodular regenerative hyperplasia of liver, Raynaud phen... ORPHA:247691
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Pancreatic fibrosis, Splenomegaly, Hype... OMIM:232220
Eosinophilic Granulomatosis With Polyangiitis
Renal insufficiency, Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal per... ORPHA:183
Tetanus
Tachycardia, Elevated circulating creatine kinase concentration, Elevated urinary norepinephrine ... ORPHA:3299
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Atrial septal... OMIM:301068
Dengue Fever
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cerebral hemorrhage, Hypotension, Hypoprote... ORPHA:99828
Adrenocortical Carcinoma
Increased urinary cortisol level, Abnormality of reproductive system physiology, Increased body w... ORPHA:1501
Overlap Myositis
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Raynaud phenom... ORPHA:206572
Beta-Ketothiolase Deficiency
Hepatomegaly, Ketonuria, Hyperammonemia, Weight loss, Hypertension, Hyperuricemia, Hypotension ORPHA:134
Posterior Urethral Valve
Renal insufficiency, Urinary incontinence, Dysuria, Urethral stenosis, Chronic kidney disease, St... ORPHA:93110
Colchicine Poisoning
Hyponatremia, Renal insufficiency, Myocarditis, Congestive heart failure, Hypovolemia, Oliguria, ... ORPHA:31824
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... OMIM:620356
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Hyperaldosteronism, Familial, Type I
Hypertension, Decreased circulating renin level OMIM:103900
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypertension, Small for gestational age, Pulmonary arterial hypertension, Cardiomegaly OMIM:613320
Bronchial Neuroendocrine Tumor
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricula... ORPHA:97287
Legionnaires Disease
Hyponatremia, Pericarditis, Renal insufficiency, Proteinuria, Myocarditis, Splenomegaly, Jaundice... ORPHA:549
Nephronophthisis 1
Polyuria, Stage 5 chronic kidney disease, Hypertension, Hyposthenuria, Renal corticomedullary cys... OMIM:256100
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Dorsocervical fat pad, Hyperlipidemia, Irregular menstruation, ... ORPHA:189427
Werner Syndrome
Lipodystrophy, Telangiectasia of the skin, Myocardial infarction, Lipoatrophy, Congestive heart f... ORPHA:902
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated hepatic transaminase, Tachycardia, Heart block, Elevated circulating creatinine concentr... ORPHA:542323
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertensi... OMIM:208000
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Nephrolithiasis, Obstructive azoospermia OMIM:301060
Gitelman Syndrome
Prolonged QT interval, Polyuria, Renal magnesium wasting, Hypomagnesemia, Ventricular tachycardia... OMIM:263800
Glucocorticoid Resistance, Generalized
Hypertension, Irregular menstruation, Infertility OMIM:615962
Primary Unilateral Adrenal Hyperplasia
Epistaxis, Increased urinary potassium, Hypertension, Hypokalemia, Palpitations, Decreased circul... ORPHA:231580
Liddle Syndrome 2
Hypertension, Hypokalemia, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Hypertension, Hypokalemia, Decreased circulating renin level OMIM:618126
Neuroleptic Malignant Syndrome
Elevated hepatic transaminase, Hyponatremia, Tachycardia, Proteinuria, Urinary incontinence, Elev... ORPHA:94093
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male infertility, Hypospadias, Bilateral cryptorchidism, Irregular menstruation, Decreased fertil... ORPHA:90793
Seckel Syndrome 10
Ventricular hypertrophy, Acute pancreatitis, Hypertriglyceridemia, Elevated circulating aspartate... OMIM:617253
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia, Impotence, Oligomenorrhea, Hypotension ORPHA:91354
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Nephrocalci... OMIM:104200
Mercury Poisoning
Tachycardia, Hypertension, Hypokalemia, Hypotension, Acute kidney injury ORPHA:330021
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Hypospadias, Unilateral cryptorchidism, Female infertility, Crypt... ORPHA:261529
Acquired Von Willebrand Syndrome
Aortic regurgitation, Gastrointestinal hemorrhage, Metrorrhagia, Epistaxis, Intracranial hemorrha... ORPHA:99147
Sepsis In Premature Infants
Hepatomegaly, Tachycardia, Small for gestational age, Elevated circulating C-reactive protein con... ORPHA:90051
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Absence of renal corticomedullary differentiation, Secundum atrial septal defect, Renal hypoplasi... OMIM:619758
Systemic Lupus Erythematosus 17
Raynaud phenomenon, Mitral regurgitation, Hypertensive crisis OMIM:301080
Pigmented Nodular Adrenocortical Disease, Primary, 4
Hypertension, Dorsocervical fat pad, Increased body weight OMIM:615830
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... ORPHA:731
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrocalcinosis, Hepatic steatosis, Tubulointerstitial fibrosis, Hepatomegaly, Irregular menstru... ORPHA:79259
Neuroendocrine Tumor Of Stomach
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cu... ORPHA:100075
Familial Hyperaldosteronism Type I
Intracranial hemorrhage, Hypertension, Hypokalemia, Epistaxis ORPHA:403
Cockayne Syndrome Type 1
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Foot joint contracture, Scarrin... ORPHA:90321
Diffuse Cutaneous Systemic Sclerosis
Dyspareunia, Renal insufficiency, Telangiectasia of the skin, Congestive heart failure, Flexion c... ORPHA:220393
Bartter Syndrome Type 4
Hyponatremia, Small for gestational age, Renal salt wasting, Increased urinary potassium, Impaire... ORPHA:89938
Pheochromocytoma
Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev... OMIM:171300
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Infertility, Hypotension, Decreased testicular size, Amenorrhea ORPHA:95619
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephro... OMIM:203780
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Pulmonary embolism, Hyperlipidemia, Chronic kidney disease, St... ORPHA:567546
Familial Glucocorticoid Deficiency
Hyponatremia, Renal salt wasting, Cryptorchidism, Hyperkalemia, Testicular adrenal rest tumor, We... ORPHA:361
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Abnormal endocardium morphology, Angina pectoris, Telangiectasia of ... ORPHA:758
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension OMIM:620125
Hereditary Pheochromocytoma-Paraganglioma
Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestiv... ORPHA:29072
Ileal Neuroendocrine Tumor
Elevated hepatic transaminase, Tricuspid stenosis, Right ventricular failure, Arterial occlusion,... ORPHA:100078
X-Linked Hypohidrotic Ectodermal Dysplasia
Hypertension ORPHA:181
Pituitary Adenoma 4, Acth-Secreting
Nephrolithiasis, Obesity, Hypertension, Abdominal obesity, Hypokalemia, Oligomenorrhea OMIM:219090
Juvenile Paget Disease
Hypertension, Hyperuricemia ORPHA:2801
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension... ORPHA:1457
Pseudohypoaldosteronism, Type Iib
Hypertension, Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hypertension, Hyperchloremia, Hyperkalemia OMIM:614495
Pseudohypoaldosteronism, Type Iic
Hypertension, Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... ORPHA:95459
Whipple Disease
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Hyponatremia, Myocardial infarction, Cac... ORPHA:3452
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventri... OMIM:300845
Familial Hyperaldosteronism Type Ii
Intracranial hemorrhage, Hypertension, Hypokalemia, Epistaxis ORPHA:404
Extracranial Carotid Artery Aneurysm
Subarachnoid hemorrhage, Vasculitis, Hypertension, Cerebral ischemia, Arteritis, Abnormality of c... ORPHA:494424
Glycogen Storage Disease Ic
Hepatomegaly, Renal insufficiency, Proteinuria, Spider hemangioma, Chronic pancreatitis, Hyperlip... OMIM:232240
Ganglioneuroma
Gastrointestinal hemorrhage, Hypertension ORPHA:251992
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... OMIM:235400
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Hypertriglyceridemia, Lipoatrophy, Congestiv... ORPHA:363618
Necrotizing Enterocolitis
Shock, Hyponatremia, Small for gestational age, Peritonitis, Abnormal heart morphology, Bradycard... ORPHA:391673
Lysosomal Acid Lipase Deficiency
Renal salt wasting, Microvesicular hepatic steatosis, Hepatic fibrosis, Hyponatremia, Hypovolemia... ORPHA:275761
Schimke Immunoosseous Dysplasia
Renal insufficiency, Small for gestational age, Transient ischemic attack, Proteinuria, Bilateral... OMIM:242900
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Hypertension, Primary amenorrhea OMIM:202110
Tsh-Secreting Pituitary Adenoma
Male hypogonadism, Hypogonadotropic hypogonadism, Pericardial effusion, Decreased fertility in ma... ORPHA:91347
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Hypospadias, Renal salt wasting, Cryptorchidism, Hyperkalemia, Azoospermia, Decreas... ORPHA:90791
Chromosome 5Q12 Deletion Syndrome
Ventricular septal defect, Hypotension, Atrial septal defect, Patent foramen ovale, Decreased bod... OMIM:615668
Acute Adrenal Insufficiency
Hyponatremia, Orthostatic hypotension, Renal insufficiency, Decreased female libido, Hypercalcemi... ORPHA:95409
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el... OMIM:261740
Renal Hypodysplasia/Aplasia 1
Hypertension, Proteinuria, Primary amenorrhea OMIM:191830
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Atrioventricular block, Nephropathy, Nephrotic ... ORPHA:324
Scorpion Envenomation
Bundle branch block, Increased circulating NT-proBNP concentration, Prominent U wave, Priapism, K... ORPHA:466677
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Proteinuria, Hiatus hernia, Stage 5 chronic kidney disease, Hyperten... OMIM:617729
Papillorenal Syndrome
Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary differentiation, Chr... OMIM:120330
Congenital Isolated Acth Deficiency
Hyponatremia, Hyperkalemia, Hepatitis, Hypotension, Prolonged neonatal jaundice ORPHA:199296
Familial Cerebral Saccular Aneurysm
Intracranial hemorrhage, Hypertension, Transient ischemic attack, Subarachnoid hemorrhage ORPHA:231160
Erythrocytosis, Familial, 2
Hypotension, Pulmonary arterial hypertension, Failure to thrive, Cerebral hemorrhage OMIM:263400
Pseudohypoaldosteronism, Type Iie
Hypertension, Hyperchloremia, Hyperkalemia OMIM:614496
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Pericarditis, Recurrent intrapulmonary hemorrhage, Angina pectoris, ... ORPHA:900
Postinfectious Vasculitis
Cerebral vasculitis, Viral hepatitis, Abnormal circulating protein concentration, Membranoprolife... ORPHA:48435
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Polyuria, Renal salt wasting, Hypertension, Enuresis, Hypokalemia, Hypocalciuria, Increased circu... OMIM:612780
Renal Dysplasia
Multicystic kidney dysplasia, Abnormal renal calyx morphology, Renal insufficiency, Urinary incon... ORPHA:93108
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Proteinuria, Myocardial infarction, Di... ORPHA:90068
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Renal insufficiency, Congestive h... ORPHA:31826
Acute Intermittent Porphyria
Dark urine, Hyponatremia, Tachycardia, Renal insufficiency, Urinary incontinence, Dysuria, Porphy... ORPHA:79276
Classic Galactosemia
Male infertility, Hepatomegaly, Elevated hepatic transaminase, Premature ovarian insufficiency, D... ORPHA:79239
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula... ORPHA:99827
Postorgasmic Illness Syndrome
Hypertension, Palpitations ORPHA:279947
Bartter Syndrome, Type 3
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... OMIM:607364
Hydroxykynureninuria
Renal tubular acidosis, Tachycardia, Abnormal circulating tryptophan concentration, Hypotension ORPHA:79155
Ectopic Aldosterone-Producing Tumor
Hypertension, Hypokalemia, Epistaxis, Decreased circulating renin level ORPHA:231632
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Portal hypertension, Hypersplenism, Weight loss, Hepatosplenomegaly,... ORPHA:98850
Caudal Regression Syndrome
Ureteral duplication, Renal insufficiency, Ectopic kidney, Cryptorchidism, Abnormality of the ure... ORPHA:3027
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Infant Botulism
Hyponatremia, Hypertension, Cardiac arrest, Hypotension ORPHA:178478
Congenital Enterovirus Infection
Pericardial effusion, Myocarditis, Hepatitis, Cholestasis, Hyperammonemia, Cardiomyopathy, Hypoal... ORPHA:292
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Hypertension, Aminoac... OMIM:617913
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Long penis, Macroorchidism, Oligozoospermia ORPHA:3000
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Hypertension, Truncal obesity, Secondary amenorrhea OMIM:610489
Bardet-Biedl Syndrome 1
Biliary tract abnormality, Obesity, Hypertension, Abdominal obesity, Truncal obesity, Hypogonadis... OMIM:209900
Bacterial Toxic-Shock Syndrome
Shock, Tachycardia, Fasciitis, Renal insufficiency, Glomerulonephritis, Elevated circulating crea... ORPHA:36234
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Tachycardia, Elevated circulating creatinine concentration, Hypertension... OMIM:223900
Pigmented Nodular Adrenocortical Disease, Primary, 2
Hypertension, Truncal obesity, Pancreatitis OMIM:610475
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Hypertriglyceridemia, Small for gestational age, Elevated circulating aspartate ami... OMIM:619573
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ketonuria, Cardiac arrest, Jaund... ORPHA:20
Nephronophthisis-Like Nephropathy 1
Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic kidney disease, Hypertension, Renal corti... OMIM:613159
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Non-Functioning Pituitary Adenoma
Macroorchidism, postpubertal, Decreased female libido, Hypogonadotropic hypogonadism, Female hypo... ORPHA:91349
Serotonin Syndrome
Tachycardia, Hypertension, Hypotension, Hepatic failure, Acute kidney injury ORPHA:43116
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Asplenia, Dextrocardia, Male infertility OMIM:618948
Meningococcal Meningitis
Shock, Renal insufficiency, Elevated circulating C-reactive protein concentration, Hypotension ORPHA:33475
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Omphalocele, Bicuspid aortic valve, Ventricular septal defect, Atrioventricular block, Mitral val... ORPHA:371428
Renal Tubular Dysgenesis
Anuria, Hypotension OMIM:267430
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Abnormality of the liver, H... ORPHA:79456
Wagro Syndrome
Decreased testicular size, Hypertension, Proteinuria, Obesity OMIM:612469
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Renal salt wasting, Long penis, Irregular menstruation, Testicular adrenal rest tumor, Intracrani... ORPHA:90795
Paroxysmal Nocturnal Hemoglobinuria
Hemosiderinuria, Renal insufficiency, Proteinuria, Myocardial infarction, Pulmonary embolism, Dec... ORPHA:447
Central Hypoventilation Syndrome, Congenital, 3
Episodic hypertension OMIM:619483
Nipah Virus Disease
Hypotension ORPHA:99825
Multiple Endocrine Neoplasia, Type Iia
Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated urinary epinephr... OMIM:171400
Adult Acute Respiratory Distress Syndrome
Shock, Vasculitis, Pancreatitis, Hypotension ORPHA:70578
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Inguinal hernia, Ventricular septal defect, Shortened PR interval... OMIM:614947
Hurler Syndrome
Hepatomegaly, Angina pectoris, Camptodactyly of finger, Abnormal heart valve morphology, Splenome... ORPHA:93473
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Myocardial infarction, Peritonitis, Elevated circulating creatinine concent... ORPHA:90038
Acute Interstitial Pneumonia
Pericardial effusion, Hypertension, Elevated circulating creatinine concentration, Elevated circu... ORPHA:79126
Scrub Typhus
Splenomegaly, Myocarditis, Renal insufficiency, Hypotension ORPHA:83317
Nestor-Guillermo Progeria Syndrome
Lipoatrophy, Left atrial enlargement, Flexion contracture, Right bundle branch block, Hypertensio... OMIM:614008
Late-Onset Isolated Acth Deficiency
Hyponatremia, Orthostatic hypotension, Premature ovarian insufficiency, Hypercalcemia, Hyperkalem... ORPHA:199299
Arima Syndrome
Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Ren... OMIM:243910
Joubert Syndrome 14
Intracranial hemorrhage, Hypertension, Ventricular septal defect, Renal cyst OMIM:614424
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Hematemesis, Pericardial effusion, Splenomegaly, Vasculitis, Increased circulating ... OMIM:615846
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Renal Agenesis
Renal insufficiency, Ventricular septal defect, Proteinuria, Unilateral renal agenesis, Ureteral ... ORPHA:411709
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Inguinal hernia, Transient ischemic attack, Bicuspid aortic valve, Subarach... ORPHA:91387
Paroxysmal Hemicrania
Hypertension ORPHA:157835
Lipodystrophy, Familial Partial, Type 7
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Orthostatic hy... OMIM:606721
Infant Acute Respiratory Distress Syndrome
Tachycardia, Bradycardia, Cardiac arrest, Hypotension ORPHA:70587
Prolactinoma
Dyspareunia, Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadism, Abnorma... ORPHA:2965
Denys-Drash Syndrome
Posterolateral diaphragmatic hernia, Diffuse mesangial sclerosis, Congenital diaphragmatic hernia... OMIM:194080
Acth-Independent Macronodular Adrenal Hyperplasia
Hypertension, Truncal obesity OMIM:219080
Cutaneous Mastocytoma
Telangiectasia of the skin, Hypotension, Telangiectasia macularis eruptiva perstans ORPHA:79455
Cholera
Hyponatremia, Tachycardia, Abnormality of renal excretion, Abnormal blood ion concentration, Hypo... ORPHA:173
Fragile X-Associated Tremor/Ataxia Syndrome
Pollakisuria, Hypertension, Impotence, Hypotension, Urinary bladder sphincter dysfunction ORPHA:93256
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Renal salt wasting, Cryptorchidism, Hypovolemia, Abnormal urine potassium concentra... ORPHA:168558
Marfanoid-Progeroid-Lipodystrophy Syndrome
Reduced subcutaneous adipose tissue, Lipoatrophy, Absence of subcutaneous fat, Generalized lipody... OMIM:616914
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic s... ORPHA:2239
Familial Dysautonomia
Abnormal peritoneum morphology, Hyponatremia, Orthostatic hypotension, Renal insufficiency, Tachy... ORPHA:1764
Monosomy 18P
Hypertension ORPHA:1598
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Small for gestational age, Polyuria, Increased serum prostaglandin E2, Renal sa... OMIM:601678
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Renal salt wasting, Cryptorchidism, Hypovolemia, Abnormal urine potassium concentra... ORPHA:289548
Alkaptonuria
Mitral valve calcification, Abnormal heart valve morphology, Myocardial infarction, Aortic valve ... ORPHA:56
Arterial Tortuosity Syndrome
Aortic regurgitation, Ventricular hypertrophy, Inguinal hernia, Congenital diaphragmatic hernia, ... OMIM:208050
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 OMIM:617763
Hellp Syndrome
Elevated hepatic transaminase, Proteinuria, Cerebral hemorrhage, Increased body weight, Hemoglobi... ORPHA:244242
Ciliary Dyskinesia, Primary, 36, X-Linked
Situs inversus totalis, Male infertility OMIM:300991
Arteriosclerosis, Severe Juvenile
Hypertension, Chronic kidney disease, Myocardial infarction OMIM:208060
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Elevated circulating C-reactive... OMIM:615688
Autosomal Dominant Hypocalcemia
Congestive heart failure, Hypercalciuria, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypo... ORPHA:428
Cockayne Syndrome A
Reduced subcutaneous adipose tissue, Hip contracture, Hepatomegaly, Renal insufficiency, Proteinu... OMIM:216400
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:605373
Pituitary Apoplexy
Hyponatremia, Hypergonadotropic hypogonadism, Hypertension, Impotence, Oligomenorrhea, Hypotension ORPHA:95613
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Alport Syndrome 1, X-Linked
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Nephrotic syndrom... OMIM:301050
Lujo Hemorrhagic Fever
Shock, Elevated hepatic transaminase, Renal insufficiency, Elevated circulating C-reactive protei... ORPHA:319213
Pde4D Haploinsufficiency Syndrome
Hypospadias, Abnormal dental enamel morphology, Cryptorchidism, Obesity, Hypotension ORPHA:439822
Cockayne Syndrome B
Reduced subcutaneous adipose tissue, Hepatomegaly, Renal insufficiency, Small for gestational age... OMIM:133540
Primary Progressive Freezing Gait
Hypertension, Urinary incontinence ORPHA:75567
Familial Pseudohyperkalemia
Hypertension, Hyperkalemia ORPHA:90044
Cranioectodermal Dysplasia 2
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Renal insufficiency, Cholangitis, S... OMIM:613610
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, My... ORPHA:892
Classic Homocystinuria
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Pulmonary embolism, Int... ORPHA:394
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia OMIM:619949
Isolated Ectopia Lentis
Hypertension ORPHA:1885
Gitelman Syndrome
Urinary incontinence, Decreased urinary potassium, Tubulointerstitial nephritis, Renal Fanconi sy... ORPHA:358
Addison Disease
Hyponatremia, Orthostatic hypotension, Premature ovarian insufficiency, Primary testicular failur... ORPHA:85138
Ciliary Dyskinesia, Primary, 18
Situs inversus totalis, Abdominal situs ambiguus, Male infertility, Immotile sperm OMIM:614874
Stiff-Person Syndrome
Hypertension, Tachycardia OMIM:184850
Arterial Tortuosity Syndrome
Inguinal hernia, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Femoral herni... ORPHA:3342
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatomegaly, Ureteral duplication, Cholangitis, Pancreatic cysts, Congenital hepatic fibrosis, S... OMIM:266920
Spondyloenchondrodysplasia
Proteinuria, Raynaud phenomenon, Chronic kidney disease, Vasculitis, Hepatitis, Hematuria, Hypert... ORPHA:1855
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Ventricular septal defect, Flexion contracture, Retinal hemorrhage, Corneal scarring... OMIM:614653
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Oligozoospermia, Hypertension, Hypokalemia, Infertility, Oligom... ORPHA:786
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hypertension, Umbilical hernia, Abnormality of the pancreas, Cryptorchidism ORPHA:1555
Pseudohypoparathyroidism Type 1A
Prolonged QT interval, Calcinosis, Hypergonadotropic hypogonadism, Obesity, Hypertension, Hyperph... ORPHA:79443
Atypical Werner Syndrome
Premature ovarian insufficiency, Telangiectasia of the skin, Lipoatrophy, Hypertriglyceridemia, C... ORPHA:79474
Ciliary Dyskinesia, Primary, 14
Male infertility, Situs inversus totalis, Polysplenia, Immotile sperm, Reduced sperm motility OMIM:613807
Aromatase Deficiency
Eunuchoid habitus, Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism... ORPHA:91
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Myocarditis, Pancreatitis, Hyperkalemia, Oliguria, Hypertension, Hypocalcem... ORPHA:544482
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Autosomal Dominant Dopa-Responsive Dystonia
Hypertension, Progressive flexion contractures, Transient hyperphenylalaninemia ORPHA:98808
Livedoid Vasculopathy
Telangiectasia of the skin, Hyperhomocystinemia, Hypertension, Atrophic scars, Ischemic stroke, A... ORPHA:542643
Prader-Willi Syndrome
Cryptorchidism, Primary amenorrhea, Hypertension, Abdominal obesity, Hypogonadism, Infertility, F... ORPHA:739
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Acute kidney injury, Elevated circulating creatine kinase concentration, H... ORPHA:466650
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Shock, Hyponatremia, Hypogonadotropic hypogonadism, Renal salt wasting, Abnormality of the menstr... ORPHA:90794
Pheochromocytoma/Paraganglioma Syndrome 1
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:168000
Cystinosis, Nephropathic
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets... OMIM:219800
Myhre Syndrome
Abnormal penis morphology, Inguinal hernia, Femoral hernia, Hypospadias, Epispadias, Cryptorchidi... ORPHA:2588
Staphylococcal Necrotizing Pneumonia
Shock, Elevated circulating C-reactive protein concentration, Hypotension ORPHA:36238
Alport Syndrome
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephro... ORPHA:63
Smith-Lemli-Opitz Syndrome
Renal cyst, Hypoalbuminemia, Hypocholesterolemia, Atrial septal defect, Micropenis, Hepatic steat... OMIM:270400
Inhalational Anthrax
Internal hemorrhage, Hypotension ORPHA:247257
Hunter-Macdonald Syndrome
Aortic regurgitation, Inguinal hernia, Bicuspid aortic valve, Hypospadias, Mitral valve prolapse,... OMIM:611962
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Inguinal hernia, Ketonuria, Bicuspid aortic valve, Mitral atresia, Small for gestational age, Hyp... OMIM:220111
Homozygous Familial Hypercholesterolemia
Angina pectoris, Sudden cardiac death, Myocardial infarction, Hyperlipidemia, Heart murmur, Abnor... ORPHA:391665
Cockayne Syndrome
Reduced subcutaneous adipose tissue, Hepatomegaly, Neurogenic bladder, Renal insufficiency, Prote... ORPHA:191
Leptospirosis
Hepatomegaly, Pericarditis, First degree atrioventricular block, Cellular urinary casts, Jaundice... ORPHA:509
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia, Decreased testicular size OMIM:618086
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hepatomegaly, Tachycardia, Splenomegaly, Weight loss, Syncope, Hypotension ORPHA:98849
Cushing Disease
Increased urinary cortisol level, Dorsocervical fat pad, Myocardial infarction, Increased body we... ORPHA:96253
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Long penis, Hypertension, Hypokalemia, Decreased testicular size, Decreased circulating renin level OMIM:202010
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Small for gestational age, Polyuria, Increased serum prostaglandin E2, Renal sa... OMIM:241200
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Fingerpad telangiectas... OMIM:600376
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Situs inversus totalis, Short sperm flagella, Coiled sperm flagella, Male infertility OMIM:620197
Marburg Hemorrhagic Fever
Shock, Elevated hepatic transaminase, Tachycardia, Pericarditis, Renal insufficiency, Elevated ci... ORPHA:99826
Acute Transverse Myelitis
Orthostatic hypotension, Decreased circulating copper concentration, Urinary incontinence, Subara... ORPHA:139417
Hutchinson-Gilford Progeria Syndrome
Myocardial infarction, Intracranial hemorrhage, Raynaud phenomenon, Absence of subcutaneous fat, ... ORPHA:740
Cutis Marmorata Telangiectatica Congenita
Hypertension, Telangiectasia OMIM:219250
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Hypertension, Multiple renal cysts, Hepatic hemangioma OMIM:193300
Primary Ciliary Dyskinesia
Male infertility, Abnormal atrial arrangement, Atrial situs ambiguous, Female infertility, Situs ... ORPHA:244
Ciliary Dyskinesia, Primary, 9
Situs inversus totalis, Male infertility OMIM:612444
Multisystemic Smooth Muscle Dysfunction Syndrome
Atrial septal defect, Hypertension, Pulmonary arterial hypertension, Cryptorchidism OMIM:613834
Mucopolysaccharidosis Type 2, Severe Form
Inguinal hernia, Abnormal heart valve morphology, Camptodactyly of finger, Abnormal pulmonary val... ORPHA:217085
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hypertension, Mitral valve prolapse ORPHA:449291
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, M... ORPHA:904
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Mucopolysaccharidosis Type 2, Attenuated Form
Inguinal hernia, Abnormal heart valve morphology, Camptodactyly of finger, Abnormal pulmonary val... ORPHA:217093
Turner Syndrome Due To Structural X Chromosome Anomalies
Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Hepatic fibrosis, Atrial septal def... ORPHA:99413
Turner Syndrome
Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Hepatic fibrosis, Atrial septal def... ORPHA:881
Mosaic Monosomy X
Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Hepatic fibrosis, Atrial septal def... ORPHA:99228
Monosomy X
Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Hepatic fibrosis, Atrial septal def... ORPHA:99226
Alexander Disease
Hypotension, Hypertension, Failure to thrive, Sudden cardiac death ORPHA:58
Poliomyelitis
Hypertension, Hypovolemic shock, Hypotension ORPHA:2912
Marshall-Smith Syndrome
Omphalocele, Ventricular septal defect, Bilateral cryptorchidism, Cryptorchidism, Premature ventr... OMIM:602535
Hennekam-Beemer Syndrome
Telangiectasia of the skin, Camptodactyly of finger, Hypotension, Arrhythmia, Failure to thrive ORPHA:2135
Multiple Endocrine Neoplasia Type 2
Reduced subcutaneous adipose tissue, Elevated urinary catecholamine level, Hypercalcemia, Elevate... ORPHA:653
Scalp-Ear-Nipple Syndrome
Renal insufficiency, Unilateral renal agenesis, Cardiac myxoma, Congestive heart failure, Renal h... OMIM:181270
Williams-Beuren Syndrome
Bicuspid aortic valve, Flexion contracture, Nephrocalcinosis, Vesicoureteral reflux, Atrial septa... OMIM:194050
Au-Kline Syndrome
Cryptorchidism, Chronic kidney disease, Hypertension, Vesicoureteral reflux, Failure to thrive, H... OMIM:616580
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Hyperphosphaturia, Transient ischemic attack, Failure to thrive in infan... ORPHA:51608
Nelson Syndrome
Increased urinary cortisol level, Testicular neoplasm, Intracranial hemorrhage, Hypertension, Hyp... ORPHA:199244
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Abdominal situs inversus, Dextrocardia, Male infertility OMIM:619607
Tuberous Sclerosis Complex
Renal insufficiency, Chronic kidney disease, Stage 5 chronic kidney disease, Renal cyst, Cardiac ... ORPHA:805
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hip contracture, Failure to thrive, Ventricular septal defect, Shoulder flexion contracture, Cryp... OMIM:210710
Multiple Endocrine Neoplasia Type 1
Neoplasm of the pancreas, Hypercalcemia, Shortened QT interval, Hematemesis, Insulinoma, Nephroli... ORPHA:652
Orofaciodigital Syndrome I
Proteinuria, Pancreatic cysts, Abnormal heart morphology, Hypertension, Hepatic fibrosis, Polycys... OMIM:311200
Hallermann-Streiff Syndrome
Small for gestational age, Cryptorchidism, Telangiectasia, Hypertension, Pulmonary arterial hyper... OMIM:234100
Mucopolysaccharidosis Type 2
Hepatomegaly, Inguinal hernia, Abnormal heart valve morphology, Abnormal pulmonary valve morpholo... ORPHA:580
22Q11.2 Deletion Syndrome
Hypocalcemia, Vesicoureteral reflux, Atrial septal defect, Hypospadias, Abnormal dental enamel mo... ORPHA:567
Carney Triad
Gastrointestinal hemorrhage, Hypertension, Tachycardia, Arrhythmia ORPHA:139411
Pheochromocytoma/Paraganglioma Syndrome 4
Tachycardia, Elevated urinary catecholamine level, Palpitations, Hypertension associated with phe... OMIM:115310
45,X/46,Xy Mixed Gonadal Dysgenesis
Prolonged QT interval, Male infertility, Tachycardia, Streak ovary, Bicuspid aortic valve, Hyposp... ORPHA:1772
Myhre Syndrome
Ventricular septal defect, Small for gestational age, Pericardial effusion, Cryptorchidism, Obesi... OMIM:139210
Carey-Fineman-Ziter Syndrome
Hydronephrosis, Glandular hypospadias, Hypertensive crisis ORPHA:1358
Pierson Syndrome
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Retinal hemorrhage, Hyp... OMIM:609049
Carney Complex
Neoplasm of the pancreas, Sertoli cell neoplasm, Dorsocervical fat pad, Testicular neoplasm, Hepa... ORPHA:1359
Orofaciodigital Syndrome Type 1
Elevated hepatic transaminase, Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Ab... ORPHA:2750
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hypospadias, Unilateral renal agenesis, Enlarged polycystic ovaries, Cryptorchidism, Flexion cont... ORPHA:95699
Alström Syndrome
Urinary incontinence, Functional abnormality of the bladder, Hypoplasia of the Leydig cells, Hepa... ORPHA:64
Fanconi Anemia, Complementation Group A
Male infertility, Small for gestational age, Hypergonadotropic hypogonadism, Ectopic kidney, Cryp... OMIM:227650
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Oligozoospermia, Azoospermia, Macroorchidism, Micr... ORPHA:8
Spermatogenic Failure 14
Male infertility, Azoospermia OMIM:615842
Neuroendocrine Neoplasm Of Appendix
Elevated hepatic transaminase, Hepatomegaly, Tricuspid stenosis, Heart murmur, Palpitations, Hypo... ORPHA:100079
Cystic Fibrosis
Male infertility, Hepatomegaly, Cor pulmonale, Hypercalciuria, Biliary cirrhosis, Hepatosplenomeg... OMIM:219700
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Ventricular septal defect, Hypertension, Hypoplastic left heart, Pulmonic ... OMIM:100300
Beare-Stevenson Cutis Gyrata Syndrome
Hypertension, Hypospadias OMIM:123790
Acute Radiation Syndrome
Hypotension, Telangiectasia ORPHA:454831
Acromegaly
Hypogonadotropic hypogonadism, Dysuria, Dysmenorrhea, Wide penis, Long penis, Hypertension, Mitra... ORPHA:963
Yunis-Varon Syndrome
Ventricular septal defect, Hypospadias, Cardiomegaly, Cryptorchidism, Renovascular hypertension, ... ORPHA:3472
Xq21 Microdeletion Syndrome
Hypertension, Renal artery stenosis, Obesity ORPHA:1435
Blau Syndrome
Pericarditis, Camptodactyly of finger, Splenomegaly, Nephropathy, Stage 5 chronic kidney disease,... ORPHA:90340
Ciliary Dyskinesia, Primary, 19
Situs inversus totalis, Male infertility OMIM:614935
Acute Liver Failure
Shock, Gastrointestinal hemorrhage, Elevated hepatic transaminase, Jaundice, Hepatitis, Hepatic n... ORPHA:90062
Apert Syndrome
Hypertension ORPHA:87
Somatomammotropinoma
Hypogonadotropic hypogonadism, Dysmenorrhea, Dysuria, Hypertension, Mitral regurgitation, Impoten... ORPHA:314769
Cushing Syndrome Due To Ectopic Acth Secretion
Increased urinary cortisol level, Pancreatic adenocarcinoma, Dorsocervical fat pad, Myocardial in... ORPHA:99889
Scalp-Ear-Nipple Syndrome
Duplication of renal pelvis, Hypertension, Ureteral duplication, Pyelonephritis ORPHA:2036
Familial Osteodysplasia, Anderson Type
Hypertension, Hyperuricemia ORPHA:2769
Blau Syndrome
Hypertension, Pericarditis, Flexion contracture of toe, Camptodactyly of finger OMIM:186580
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Failure to thrive, Hyperkalemia, Hypotension ORPHA:293978
Bloom Syndrome
Male infertility, Premature ovarian insufficiency, Small for gestational age, Adipose tissue loss... ORPHA:125
Congenital Disorder Of Glycosylation, Type Iim
Ureteropelvic junction obstruction, Vesicovaginal fistula, Hypertension, Atrial septal defect, En... OMIM:300896
Systemic Lupus Erythematosus
Proteinuria, Lupus nephritis, Pyuria, Raynaud phenomenon, Hematuria, Hypertension ORPHA:536
Aromatic L-Amino Acid Decarboxylase Deficiency
Hypotension OMIM:608643
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyponatremia, Small for gestational age, Hypospadias, Cryptorchidism, Vesicovaginal fistula, Hype... OMIM:201750
Partial Androgen Insensitivity Syndrome
Male infertility, Hypospadias, Bilateral cryptorchidism, Primary amenorrhea, Perineal hypospadias... ORPHA:90797
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Obstructive azoospermia, Oligozoospermia ORPHA:48
Ciliary Dyskinesia, Primary, 1
Situs inversus totalis, Asplenia, Male infertility OMIM:244400
46,Xy Partial Gonadal Dysgenesis
Male infertility, Hypoplasia of penis, Streak ovary, Hypospadias, Hypergonadotropic hypogonadism,... ORPHA:251510
Hereditary Angioedema Type 1
Hypotension ORPHA:100050
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia OMIM:277180
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Omphalocele, Inguinal hernia, Multicystic kidney dysplasia, Hypospadias, Unilateral renal agenesi... OMIM:308205
Noonan Syndrome 1
Male infertility, Ventricular septal defect, Failure to thrive in infancy, Hypospadias, Cryptorch... OMIM:163950
Neurofibromatosis, Type I
Hypertension, Renal artery stenosis OMIM:162200
Non-Acquired Panhypopituitarism
Hypogonadotropic hypogonadism, Infertility, Hypotension, Decreased testicular size, Amenorrhea ORPHA:90695
Neurofibromatosis Type 1
Hypertension, Multiple lipomas, Cryptorchidism ORPHA:636
X-Linked Intellectual Disability, Hedera Type
Left ventricular hypertrophy, Obesity ORPHA:93952
17Q11 Microdeletion Syndrome
Telangiectasia of the skin, Renovascular hypertension, Abnormal heart morphology, Hypertension, R... ORPHA:97685
Vascular Ehlers-Danlos Syndrome
Inguinal hernia, Telangiectasia of the skin, Transient ischemic attack, Abnormal heart valve morp... ORPHA:286
Keutel Syndrome
Hypertension, Ventricular septal defect, Pulmonic stenosis OMIM:245150
Plague
Hepatomegaly, Tachycardia, Hematemesis, Splenomegaly, Endocarditis, Hypotension, Arrhythmia ORPHA:707
Combined Pituitary Hormone Deficiencies, Genetic Forms
Hypogonadotropic hypogonadism, Infertility, Hypotension, Decreased testicular size, Amenorrhea ORPHA:95494
Congenital Disorder Of Glycosylation, Type Iir
Elevated hepatic transaminase, Hepatomegaly, Hypospadias, Jaundice, Micronodular cirrhosis, Decre... OMIM:301045
Parkinsonism With Spasticity, X-Linked
OMIM:300911
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
OMIM:300423
X-Linked Parkinsonism-Spasticity Syndrome
ORPHA:363654

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 Atp6ap2

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 Atp6ap2.

No publications found that use IMPC mice or data for Atp6ap2.

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