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Gene: Mrgprb2 MGI:2441674

Gene Summary

Name:

MAS-related GPR, member B2

Synonyms:

4833406I20Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage	P Value
small adrenal glands	Mrgprb2^em1(IMPC)Tcp	HOM	Late adult	0.00
small kidney	Mrgprb2^em1(IMPC)Tcp	HOM	Late adult	0.00
polycystic kidney	Mrgprb2^em1(IMPC)Tcp	HOM	Late adult	0.00
small spleen	Mrgprb2^em1(IMPC)Tcp	HOM	Late adult	0.00
decreased exploration in new environment	Mrgprb2^em1(IMPC)Tcp	HOM	Middle aged adult	1.55×10^-05
enlarged urinary bladder	Mrgprb2^em1(IMPC)Tcp	HOM	Late adult	0.00
abnormal ovary morphology	Mrgprb2^em1(IMPC)Tcp	HOM	Late adult	0.00
decreased exploration in new environment	Mrgprb2^em1(IMPC)Tcp	HOM	Late adult	5.29×10^-05
decreased exploration in new environment	Mrgprb2^em1(IMPC)Tcp	HOM	Early adult	4.50×10^-07
abnormal seminal vesicle morphology	Mrgprb2^em1(IMPC)Tcp	HOM	Late adult	0.00
abnormal skin morphology	Mrgprb2^em1(IMPC)Tcp	HOM	Late adult	0.00
abnormal liver morphology	Mrgprb2^em1(IMPC)Tcp	HOM	Late adult	0.00
abnormal skin morphology	Mrgprb2^em1(IMPC)Tcp	HOM	Early adult	0.00

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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.

Eye Morphology

12 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Immunophenotyping

Panel B FCS file(s)

6 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Histopathology

Images

2 Images

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Human diseases caused by Mrgprb2 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 Mrgprb2 (0 diseases)
Human diseases predicted to be associated with Mrgprb2 (374 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Mrgprb2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis	ORPHA:280794
Polycystic Kidney Disease 5	Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys, Hepatosplenomegaly, Reduced...	OMIM:617610
RCAD (renal cysts and diabetes)	Abnormality of the liver, Diabetes mellitus, Multiple renal cysts	DECIPHER:47
Hyperparathyroidism 2 With Jaw Tumors	Renal cortical adenoma, Parathyroid carcinoma, Pancreatic adenocarcinoma, Hurthle cell thyroid ad...	OMIM:145001
Nephronophthisis 16	Enlarged kidney, Nephronophthisis, Periportal fibrosis, Polycystic kidney dysplasia, Cholestasis,...	OMIM:615382
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne...	OMIM:263200
Campomelia, Cumming Type	Polycystic kidney dysplasia, Pancreatic cysts, Polysplenia, Polycystic liver disease	OMIM:211890
Hepatorenocardiac Degenerative Fibrosis	Enlarged kidney, Jaundice, Tubular luminal dilatation, Cirrhosis, Elevated circulating hepatic tr...	OMIM:619902
Renal Hypodysplasia/Aplasia 3	Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Abnormality of the uterus, Renal dysplasia...	OMIM:617805
Bardet-Biedl Syndrome 16	External genital hypoplasia, Renal cyst, Cognitive impairment, Renal agenesis, Hypogonadism, Rena...	OMIM:615993
Bardet-Biedl Syndrome 10	Hypogonadism, Renal insufficiency, Renal cyst	OMIM:615987
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Splenomegaly, Stage 5 c...	OMIM:208540
Polycystic Kidney Disease 7	Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insuffic...	OMIM:620056
Lipoid Congenital Adrenal Hyperplasia	Renal salt wasting, Adrenogenital syndrome, Hypospadias, Congenital adrenal hyperplasia	OMIM:201710
Immunodeficiency 86	Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst	OMIM:619549
Specific Granule Deficiency 1	Recurrent otitis media, Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Recurre...	OMIM:245480
Nephronophthisis 14	Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Decreased glomerular filtration rate, Polycystic kidney dysplasia, Hepatic cysts, Stage 5 chronic...	OMIM:618061
Indolent Systemic Mastocytosis	Increased proportion of CD25+ mast cells, Skin rash, Mastocytosis, Splenomegaly, Abnormal mast ce...	ORPHA:98848
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Decreased liver function, Polycystic kidney dysplasia, Hepatic cysts	OMIM:600666
Caroli Disease	Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Peroxisome Biogenesis Disorder 3A (Zellweger)	Polycystic kidney dysplasia, Hepatomegaly	OMIM:614859
Renal Dysplasia, Cystic, Susceptibility To	Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal...	OMIM:601331
Meckel Syndrome, Type 8	Polycystic kidney dysplasia, Enlarged kidney, Ambiguous genitalia, Hyperechogenic kidneys	OMIM:613885
Meckel Syndrome, Type 11	Polycystic kidney dysplasia	OMIM:615397
Bardet-Biedl Syndrome 4	Abnormality of the kidney, External genital hypoplasia, Renal cyst, Hypogonadism, Cryptorchidism	OMIM:615982
Granulomatous disease with defect in neutrophil chemotaxis	Impaired neutrophil killing of staphylococci	OMIM:233670
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Jaundice, Hepatomegaly, Recurrent urinary tract infections, Polycystic kidney dysplasia, Multiple...	OMIM:613095
Nephronophthisis 20	Nephronophthisis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, Renal insuff...	OMIM:617271
Femoral-Facial Syndrome	Renal hypoplasia/aplasia, Maternal diabetes, Long penis, Polycystic kidney dysplasia, Abnormal lo...	ORPHA:1988
Caroli Syndrome	Abnormality of the kidney, Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Pancreatit...	ORPHA:480520
Hepatic Adenomas, Familial	Polycystic ovaries, Maturity-onset diabetes of the young, Hepatocellular adenoma	OMIM:142330
Nphp3-Related Meckel-Like Syndrome	Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Renal dysplasia, Multicy...	ORPHA:3032
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts	OMIM:173900
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Splenic cyst, Polyc...	OMIM:610199
Meckel Syndrome 13	Polycystic kidney dysplasia	OMIM:617562
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Unilateral renal agenesis, Polycystic kidney dysplasia, Vesicoureteral reflux...	ORPHA:2237
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia, Multinodular goiter	ORPHA:2091
Peroxisome Biogenesis Disorder 2A (Zellweger)	Clitoral hypertrophy, Jaundice, Hepatomegaly, Polycystic kidney dysplasia, Intrahepatic biliary d...	OMIM:214110
Bullous Diffuse Cutaneous Mastocytosis	Erythroderma, Cutaneous mastocytosis	ORPHA:280785
Immunodeficiency 81	Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Abnormally lo...	OMIM:619374
Gillessen-Kaesbach-Nishimura Syndrome	Polycystic kidney dysplasia, Bicornuate uterus, Periportal fibrosis	OMIM:263210
Infundibulopelvic Dysgenesis	Microscopic hematuria, Multicystic kidney dysplasia	OMIM:600989
Burkitt Lymphoma	Abnormal lymph node morphology, Abnormality of the ovary, Decreased proportion of CD4-positive he...	ORPHA:543
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency	Increased circulating ACTH level, Ambiguous genitalia, Congenital adrenal hyperplasia	OMIM:613571
Autosomal Recessive Polycystic Kidney Disease	Enlarged kidney, Cholestasis, Biliary hyperplasia, Cognitive impairment, Splenomegaly, Abnormal i...	ORPHA:731
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ...	ORPHA:90793
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Renal salt wasting, Hypospadias, Adrenal hyperplasia, Adrenogenital syndrome, Elevated circulatin...	OMIM:201910
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Jaundice, Hepatomegaly, Generalized aminoaciduria, Renal cortical cysts, Polyc...	OMIM:231680
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Premature pubarche, Penoscrotal hypospadias, Hypospadias, Impaired cortisol response to corticotr...	OMIM:201810
Rhyns Syndrome	Abnormality of the liver, Hypopituitarism, Nephronophthisis, Multicystic kidney dysplasia	ORPHA:140976
Peroxisome Biogenesis Disorder 6A (Zellweger)	Decreased liver function, Hepatomegaly, Renal cyst	OMIM:614870
Congenital Anomalies Of Kidney And Urinary Tract 3	Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl...	OMIM:618270
Gonadoblastoma	Female external genitalia in individual with 46,XY karyotype, Increased serum testosterone level,...	ORPHA:206484
Mckusick-Kaufman Syndrome	Transverse vaginal septum, Hydrometrocolpos, Hydroureter, Rectovaginal fistula, Vesicovaginal fis...	OMIM:236700
46,Xx Testicular Difference Of Sex Development	Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism	ORPHA:393
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Ambiguous genitalia, male, Clitoral hypertrophy, Increased circulating androstenedione concentrat...	ORPHA:90791
Congenital Disorder Of Glycosylation, Type Il	Polycystic kidney dysplasia, Hepatomegaly, Splenomegaly	OMIM:608776
Tetragametic Chimerism	Clitoral hypertrophy, Ovotestis, Bifid scrotum, Abnormal testis morphology, Abnormality of the ov...	ORPHA:199310
Mayer-Rokitansky-Kuster-Hauser Syndrome	Abnormal female external genitalia morphology, Aplasia of the upper vagina, Hypoplasia of the ute...	OMIM:277000
Hanac Syndrome	Hematuria, Multiple renal cysts, Renal insufficiency	ORPHA:73229
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Ureteral duplication, Macrovesicular hepatic steatosis, Hepatomegaly, Elevated c...	OMIM:608836
Isolated Polycystic Liver Disease	Hepatomegaly, Abnormality of the pancreas, Multiple renal cysts, Polycystic liver disease	ORPHA:2924
Lipodystrophy, Partial, Acquired, Susceptibility To	Hematuria, Nephrotic syndrome, Proteinuria, Membranoproliferative glomerulonephritis, Polycystic ...	OMIM:608709
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Ectopic kidney, Cystic renal dysplasia, Cryptorchidism	OMIM:613730
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hypospadias, Polycystic kidney dysplasia, Renal cyst, Renal hypoplasia, Hepatic fibrosis	OMIM:614091
Hyperaldosteronism, Familial, Type I	Decreased circulating renin level, Adrenal hyperplasia, Adrenogenital syndrome, Hyperaldosteronis...	OMIM:103900
Mastocytosis, Cutaneous	Cutaneous mastocytosis	OMIM:154800
Acth-Independent Macronodular Adrenal Hyperplasia	Decreased circulating ACTH concentration, Depression, Emotional lability, Macronodular adrenal hy...	OMIM:219080
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Renal cyst, Polycystic liver disease	OMIM:174050
Distal Triplication 15Q	Abnormality of the kidney, Polycystic kidney dysplasia, Abnormal external genitalia, Hydronephros...	ORPHA:314588
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Decreased circulating ACTH concentration, Memory impairment, Depression, Emotional lability, Macr...	ORPHA:189427
Peroxisome Biogenesis Disorder 5A (Zellweger)	Clitoral hypertrophy, Jaundice, Hepatomegaly, Hypospadias, Polycystic kidney dysplasia, Intrahepa...	OMIM:614866
Carnitine Palmitoyltransferase Ii Deficiency	Renal tubular epithelial necrosis, Hepatomegaly, Myoglobinuria, Polycystic kidney dysplasia, Red-...	ORPHA:157
Meckel Syndrome, Type 9	Ambiguous genitalia, Multicystic kidney dysplasia	OMIM:614209
Branchiootorenal Syndrome 1	Euthyroid goiter, Renal steatosis, Abnormal renal collecting system morphology, Unilateral renal ...	OMIM:113650
Congenital Megacalycosis	Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph...	ORPHA:93109
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal tubular epithelial necrosis, Dicarboxylic aciduria, Hepatomegaly, Myoglobinuria, Polycystic...	ORPHA:228308
Cystic Echinococcosis	Cholestatic liver disease, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conc...	ORPHA:400
Multiple Acyl-Coa Dehydrogenase Deficiency	Decreased liver function, Glutaric aciduria, Hepatomegaly, Elevated circulating hepatic transamin...	ORPHA:26791
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Polycystic kidney dysplasia, Renal angiomyolipoma	OMIM:600273
Bardet-Biedl Syndrome 6	External genital hypoplasia, Hypospadias, Renal cyst, Vaginal atresia, Diabetes mellitus	OMIM:605231
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Increased circulating androstenedione concentration, Clitoral hypertrophy, Precocious puberty in ...	OMIM:202010
Renal Cysts And Diabetes Syndrome	Elevated circulating hepatic transaminase concentration, Multiple glomerular cysts, Abnormal rena...	OMIM:137920
Trisomy 17P	Hypoplasia of penis, Polycystic kidney dysplasia, Urethral valve, Hydronephrosis, Urethral stenosis	ORPHA:261290
Prune Belly Syndrome	Hydroureter, Renal insufficiency, Abnormality of the bladder, Recurrent urinary tract infections,...	ORPHA:2970
Tuberous Sclerosis Complex	Abnormality of the kidney, Pancreatic endocrine tumor, Depression, Polycystic kidney dysplasia, P...	ORPHA:805
Syndromic Diarrhea	Cirrhosis, Hepatomegaly, Polycystic kidney dysplasia, Hypoplasia of the thymus, Hypothyroidism, I...	ORPHA:84064
Arima Syndrome	Polyuria, Cirrhosis, Nephronophthisis, Hematuria, Hepatomegaly, Anemia, Tubulointerstitial fibros...	OMIM:243910
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Adrenal hyperplasia, Ambiguous genitalia, Adrenogenital syndrome, Male pseudohermaphroditism	OMIM:202110
Pigmented Nodular Adrenocortical Disease, Primary, 4	Emotional lability, Depression, Adrenal hyperplasia, Diabetes mellitus, Primary hypercortisolism,...	OMIM:615830
Mast Cell Sarcoma	Splenomegaly, Mastocytosis	ORPHA:66661
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Decreased testicular size, Abnormality of the ovary, Hypogonadism	ORPHA:1875
Autosomal Dominant Polycystic Kidney Disease	Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis...	ORPHA:730
Odontochondrodysplasia 1	Polycystic kidney dysplasia, Nephronophthisis	OMIM:184260
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617874
Ovarian Fibroma	Mesenteric cyst, Ovarian fibroma, Abnormality of the ovary, Peritonitis, Gonadal calcification	ORPHA:314473
Meckel Syndrome, Type 3	Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Multicystic kidney dysplasia, Malformati...	OMIM:607361
Fanconi Anemia, Complementation Group O	External genital hypoplasia, Renal cyst, Hydronephrosis, Stage 5 chronic kidney disease, Cryptorc...	OMIM:613390
Acth-Independent Macronodular Adrenal Hyperplasia 2	Decreased circulating ACTH concentration, Depression, Macronodular adrenal hyperplasia, Increased...	OMIM:615954
46,Xx Ovotesticular Difference Of Sex Development	Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r...	ORPHA:2138
Genitopalatocardiac Syndrome	Hypospadias, Renal cyst, Gonadal dysgenesis, male	OMIM:231060
Meckel Syndrome 14	Polycystic kidney dysplasia, Hepatic fibrosis, Aplasia of the uterus, Ambiguous genitalia	OMIM:619879
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Acute kidney injury, Glomerulopathy, Jaundice, Abnormality of endocrine pancreas physiology, Hypo...	ORPHA:93111
Trisomy X	Renal hypoplasia/aplasia, Depression, Cognitive impairment, Precocious puberty, Attention deficit...	ORPHA:3375
Aggressive Systemic Mastocytosis	Anemia, Increased proportion of CD25+ mast cells, Maculopapular exanthema, Pancytopenia, Leukocyt...	ORPHA:98850
Meckel Syndrome, Type 1	Ambiguous genitalia, male, External genital hypoplasia, Accessory spleen, Polycystic kidney dyspl...	OMIM:249000
Indomethacin Embryofetopathy	Abnormal renal tubule morphology, Nephropathy, Multicystic kidney dysplasia, Renal insufficiency	ORPHA:1909
Pigmented Nodular Adrenocortical Disease, Primary, 3	Adrenal hyperplasia, Increased circulating cortisol level	OMIM:614190
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Female external genitalia in individual with 46,XY karyotype, Abnormal female external genitalia ...	ORPHA:90790
Alagille Syndrome 2	Cholestatic liver disease, Hematuria, Renal tubular acidosis, Cholestasis, Renal cyst, Renal hypo...	OMIM:610205
Immunodeficiency 108 With Autoinflammation	Impaired neutrophil chemotaxis, Recurrent aphthous stomatitis, Hyposegmentation of neutrophil nuclei	OMIM:260570
Renal Tubular Dysgenesis	Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts, Nephropathy	ORPHA:3033
Hyperaldosteronism, Familial, Type Iii	Polyuria, Hypercalciuria, Decreased circulating renin level, Adrenal hyperplasia, Hyperaldosteronism	OMIM:613677
Bardet-Biedl Syndrome 12	Hydrometrocolpos, Hydroureter, Cognitive impairment, Hydronephrosis, Vaginal atresia, Hypogonadis...	OMIM:615989
Fowler Urethral Sphincter Dysfunction Syndrome	Urinary incontinence, Dysuria, Abnormality of the ovary, Polycystic ovaries, Urinary retention, A...	ORPHA:2795
Autoimmune Polyendocrinopathy Type 1	Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroidism, Adre...	ORPHA:3453
Mirage Syndrome	Anemia, Hypospadias, Recurrent urinary tract infections, Adrenal hypoplasia, Microphallus, Hyperg...	OMIM:617053
Coach Syndrome 1	Cirrhosis, Nephronophthisis, Hepatomegaly, Unilateral renal agenesis, Elevated circulating hepati...	OMIM:216360
Ovarian Fibrothecoma	Increased serum testosterone level, Abnormal circulating hormone concentration, Ovarian fibroma, ...	ORPHA:314478
Congenital Disorder Of Glycosylation, Type Ib	Cirrhosis, Lymphangiectasis, Hepatomegaly, Proximal tubulopathy, Renal cyst, Hyperinsulinemic hyp...	OMIM:602579
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Cryptorchidism, Renal hypoplasia/aplasia, Multiple renal cysts, Vesicoureteral reflux	ORPHA:1166
Meckel Syndrome, Type 6	Abnormal internal genitalia, Aplasia of the bladder, Renal cyst, Bile duct proliferation, Cystic ...	OMIM:612284
Thomas Syndrome	Renal hypoplasia/aplasia, Multicystic kidney dysplasia	ORPHA:3316
17Q12 Microdeletion Syndrome	Renal hypoplasia/aplasia, Elevated circulating hepatic transaminase concentration, Renal insuffic...	ORPHA:261265
Familial Hyperaldosteronism Type Iii	Hypercalciuria, Abnormal circulating renin, Glucocortocoid-insensitive primary hyperaldosteronism...	ORPHA:251274
Senior-Boichis Syndrome	Tubular luminal dilatation, Elevated circulating hepatic transaminase concentration, Cholestasis,...	ORPHA:84081
Renal Dysplasia	Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Ure...	ORPHA:93108
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pancreatitis, Decreased circulating ACTH concentration, Pigmented micronodular adrenocortical dis...	OMIM:610475
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Glucocortocoid...	ORPHA:404
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Abnormal circulating renin, Dexamethasone-suppressible primary hyperaldoster...	ORPHA:403
Axial Mesodermal Dysplasia Spectrum	Renal hypoplasia/aplasia, Renal cyst, Abnormality of the ureter, Hydronephrosis, Abnormality of t...	ORPHA:1834
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Focal segmental glomerulosclerosis, Renal cyst, Chronic kidney disease, Nephropathy, Neut...	OMIM:617056
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Hematuria, Elevated circulating hepatic transaminase concentration, Glycosuria,...	OMIM:614817
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Recurrent otitis media, Partial absence of specific antibody response to Haemophilus influenzae t...	OMIM:618986
Distal Deletion 12Q	Annular pancreas, Maturity-onset diabetes of the young, Ectopic kidney, Biliary atresia, Polycyst...	ORPHA:96149
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Enlarged kidney, Polycystic kidney dysplasia, Renal dysplasia, Ambiguous genitalia, Micropenis	OMIM:613091
Acrorenal-Mandibular Syndrome	Polycystic kidney dysplasia, Aplasia of the bladder, Bicornuate uterus, Absent nipple, Unicornuat...	OMIM:200980
Peroxisome Biogenesis Disorder 11A (Zellweger)	Decreased liver function, Elevated circulating hepatic transaminase concentration, Multiple renal...	OMIM:614883
Familial Adenomatous Polyposis 4	Uterine leiomyoma, Ovarian cyst, Thyroid adenoma, Renal cyst	OMIM:617100
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Delayed puberty, Abnormal female external genitalia morphology, Abnormal ovarian morphology, Abno...	ORPHA:95699
Congenital Bile Acid Synthesis Defect Type 2	Jaundice, Giant cell hepatitis, Hepatomegaly, Elevated circulating hepatic transaminase concentra...	ORPHA:79303
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ...	OMIM:608203
Renal Hypoplasia, Bilateral	Anemia, Decreased glomerular filtration rate, Vesicoureteral reflux, Beta 2-microglobulinuria, Re...	ORPHA:97362
Maternal Uniparental Disomy Of Chromosome 6	Clitoral hypertrophy, Increased serum testosterone level, Hydrocele testis, Thrombocytopenia, Con...	ORPHA:96181
Axial Osteomalacia	Renal cyst, Polycystic liver disease	OMIM:109130
Renal-Hepatic-Pancreatic Dysplasia 2	Enlarged kidney, Hepatomegaly, Cholestasis, Asplenia, Hepatic cysts, Hepatic fibrosis, Malformati...	OMIM:615415
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged kidney, Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, ...	ORPHA:90301
22Q11.2 Deletion Syndrome	Hypoparathyroidism, Hypospadias, Cholelithiasis, Depression, Polycystic kidney dysplasia, Abnorma...	ORPHA:567
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Polycystic kidney dysplasia, Ambiguous genitalia, Hepatic fibrosis, Pancreatic fibrosis, Micropenis	OMIM:263520
Mody	Abnormality of the kidney, Hepatocellular adenoma, Pancreatic hypoplasia, Hypoinsulinemia, Renal ...	ORPHA:552
Meckel Syndrome, Type 7	Multiple glomerular cysts, Multicystic kidney dysplasia, Cholestasis, Biliary cirrhosis, Portal h...	OMIM:267010
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Delayed puberty, Azoospermia, Testicular microlithiasis, Decreased circulating luteinizing hormon...	OMIM:228300
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Ovotestis, Hypospadias, Renal agenesis, Hypoplasia of the bladder, Adrenal gland agenesis, Sex re...	OMIM:611812
Orofaciodigital Syndrome I	Polycystic kidney dysplasia, Ovarian cyst, Proteinuria, Hepatic cysts, Hepatic fibrosis, Pancreat...	OMIM:311200
46,Xy Complete Gonadal Dysgenesis	Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis	ORPHA:242
Genitopalatocardiac Syndrome	Abnormality of the gallbladder, Hypospadias, Male pseudohermaphroditism, Abnormal mesentery morph...	ORPHA:2075
Nephronophthisis 3	Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Hepatic fibr...	OMIM:604387
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Adrenal hyperplasia, Abnormal circulating renin, Nephrolithiasis, Hyperaldosteronism	ORPHA:369929
Peutz-Jeghers Syndrome	Abnormality of the gallbladder, Anemia, Renal cell carcinoma, Enlarged polycystic ovaries, Abnorm...	ORPHA:2869
Joubert Syndrome 18	Intrahepatic biliary atresia, Horseshoe kidney, Renal cyst	OMIM:614815
Focal Facial Dermal Dysplasia Type Iv	Abnormal mast cell morphology	ORPHA:398189
Medullary cystic kidney disease 2	Enuresis, Renal tubular atrophy, Multiple renal cysts, Renal corticomedullary cysts, Stage 5 chro...	OMIM:603860
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Polycystic kidney dysplasia, Hyperechogenic kidneys	OMIM:617866
Vacterl/Vater Association	Abnormality of the gallbladder, Ectopic kidney, Hypospadias, Hypoplasia of penis, Bifid scrotum, ...	ORPHA:887
Microphthalmia, Syndromic 9	Multilobulated spleen, Pelvic kidney, Bicornuate uterus, Cryptorchidism, Renal hypoplasia, Hydron...	OMIM:601186
Intellectual Developmental Disorder, X-Linked 112	Ectopic kidney, Hypospadias, Horseshoe kidney, Enuresis nocturna, Vesicoureteral reflux, Enuresis...	OMIM:301111
Phelan-Mcdermid Syndrome	Abnormality of the kidney, Vesicoureteral reflux, Polycystic kidney dysplasia	OMIM:606232
Joubert Syndrome 16	Nephronophthisis, Renal cyst	OMIM:614465
Alveolar Echinococcosis	Decreased liver function, Abnormal adrenal morphology, Jaundice, Anemia, Cholangitis, Liver absce...	ORPHA:284
Meckel Syndrome, Type 5	Renal cyst, Bile duct proliferation	OMIM:611561
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia	ORPHA:2111
Meckel Syndrome, Type 10	Malformation of the hepatic ductal plate, Micropenis, Hypospadias, Renal cyst	OMIM:614175
Ogden Syndrome	Irritability, Enlarged kidney, Jaundice, Macrovesicular hepatic steatosis, Iron deficiency anemia...	OMIM:300855
Primary Unilateral Adrenal Hyperplasia	Adrenal hyperplasia, Decreased circulating renin level, Increased urinary potassium, Glucocortoco...	ORPHA:231580
Floating-Harbor Syndrome	Hypospadias, Polycystic kidney dysplasia, Short attention span, Renal cyst, Cryptorchidism, Renal...	ORPHA:2044
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia	Cutaneous mastocytosis	OMIM:248910
Generalized Glucocorticoid Resistance Syndrome	Ambiguous genitalia, Abnormal circulating testosterone concentration, Oligozoospermia, Adrenal hy...	ORPHA:786
Bardet-Biedl Syndrome 17	Polyuria, Renal cyst, Cognitive impairment, Hypogonadism, Stage 5 chronic kidney disease, Micropenis	OMIM:615994
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Multicystic kidney dysplasia	ORPHA:3270
Combined Oxidative Phosphorylation Deficiency 11	Decreased liver function, Hepatomegaly, Renal tubular acidosis, Renal cyst, Renal hypoplasia, Ren...	OMIM:614922
Zellweger Syndrome	Clitoral hypertrophy, Jaundice, Hepatomegaly, Hypospadias, Cognitive impairment, Primary adrenal ...	ORPHA:912
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Renal hypoplasia/aplasia, Hydroureter, Abnormal internal genitalia, Urogenital sinus anomaly, Fem...	ORPHA:2973
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron...	ORPHA:98849
Hyperparathyroidism-Jaw Tumor Syndrome	Thyroid carcinoma, Elevated circulating parathyroid hormone level, Pancreatitis, Hypercalciuria, ...	ORPHA:99880
Tetraamelia Syndrome 1	Absent external genitalia, Hypoplasia of the fallopian tube, Asplenia, Renal agenesis, Vaginal at...	OMIM:273395
3-Methylglutaconic Aciduria Type 7	3-Methylglutaconic aciduria, Infection associated neutropenia, Elevated circulating hepatic trans...	ORPHA:445038
Epidermal Nevus Syndrome	Polycystic kidney dysplasia	ORPHA:35125
Pearson Syndrome	Elevated circulating hepatic transaminase concentration, Reticulocytosis, Bone marrow hypocellula...	ORPHA:699
Parathyroid Carcinoma	Parathyroid carcinoma, Thyroid carcinoma, Elevated circulating parathyroid hormone level, Pancrea...	ORPHA:143
Chromosome 17Q12 Deletion Syndrome	Elevated circulating hepatic transaminase concentration, Unilateral renal agenesis, Aplasia of th...	OMIM:614527
Joubert Syndrome 20	Renal cyst	OMIM:614970
Hajdu-Cheney Syndrome	Polycystic kidney dysplasia, Cryptorchidism, Hypospadias, Renal cyst	OMIM:102500
Roberts Syndrome	Clitoral hypertrophy, Long penis, Polycystic kidney dysplasia, Thrombocytopenia, Cryptorchidism	ORPHA:3103
Müllerian Aplasia And Hyperandrogenism	Increased serum testosterone level, Abnormal vagina morphology, Abnormality of the ovary, Renal a...	ORPHA:247768
Mayer-Rokitansky-Küster-Hauser Syndrome	Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, Endometriosis, Aplasia of t...	ORPHA:3109
Trisomy 13	Cognitive impairment, Abnormality of the ureter, Hydronephrosis, Displacement of the urethral mea...	ORPHA:3378
Renal Coloboma Syndrome	Multicystic kidney dysplasia, Vesicoureteral reflux, Renal hypoplasia, Renal dysplasia, Renal ins...	ORPHA:1475
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ...	OMIM:619313
Hypocalciuric Hypercalcemia, Familial, Type Iii	Pancreatitis, Hypocalciuria, Depression, Parathormone-independent increased renal tubular calcium...	OMIM:600740
Gracile Bone Dysplasia	Hypoplastic spleen, Micropenis, Asplenia	OMIM:602361
Satoyoshi Syndrome	Hypoplasia of the ovary, Abnormality of the ovary, Nephrogenic diabetes insipidus, Abnormality of...	ORPHA:3130
Von Hippel-Lindau Syndrome	Hepatic hemangioma, Neoplasm of the pancreas, Pheochromocytoma, Renal cell carcinoma, Polycythemi...	OMIM:193300
Nephronophthisis-Like Nephropathy 1	Nephronophthisis, Chronic pancreatitis, Tubular basement membrane disintegration, Renal tubular a...	OMIM:613159
Mccune-Albright Syndrome	Hepatocellular adenoma, Cholestasis, Bone marrow hypocellularity, Ovarian cyst, Abnormal endocrin...	ORPHA:562
Multicystic Dysplastic Kidney	Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r...	ORPHA:1851
Kaposiform Lymphangiomatosis	Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma...	ORPHA:464329
Meckel Syndrome, Type 2	Renal cyst, Bile duct proliferation	OMIM:603194
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Polycystic kidney dysplasia, Micropenis	OMIM:616546
Joubert Syndrome With Hepatic Defect	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Multicystic kid...	ORPHA:1454
Joubert Syndrome 39	Polycystic kidney dysplasia	OMIM:619562
15q26 overgrowth syndrome	Abnormality of the kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Renal agenesis, Hy...	DECIPHER:81
Joubert Syndrome 7	Stage 5 chronic kidney disease, Nephronophthisis, Renal cyst	OMIM:611560
Polysyndactyly With Cardiac Malformation	Hepatic cysts, Renal cyst	OMIM:263630
Papillorenal Syndrome	Hematuria, Horseshoe kidney, Vesicoureteral reflux, Mild proteinuria, Nephrolithiasis, Renal cyst...	OMIM:120330
Functioning Gonadotropic Adenoma	Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes...	ORPHA:91348
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Cardiomegaly, Adrenocortical carcinoma, Renal cortical cysts, Vesi...	OMIM:130650
Campomelia, Cumming Type	Hepatomegaly, Multicystic kidney dysplasia, Multiple renal cysts, Pancreatic cysts, Abnormality o...	ORPHA:1318
Say Syndrome	Cystic renal dysplasia, Proximal renal tubular acidosis	OMIM:181180
Stormorken Syndrome	Hematuria, Anemia, Howell-Jolly bodies, Asplenia, Hypoplastic spleen, Thrombocytopenia	OMIM:185070
Peroxisome Biogenesis Disorder 1B	Cirrhosis, Hepatomegaly, Hyperoxaluria, Renal cyst, Hepatic fibrosis	OMIM:601539
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Uterine leiomyoma, Thyroid adenoma, Renal cyst	ORPHA:480536
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Hematuria, Renal cyst, Renal insufficiency	OMIM:611773
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Renal dysplasia, Renal hypoplasia, Ureteral agenesis, Renal cyst	OMIM:236500
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Polycystic kidney dysplasia, Renal cyst, Renal hypoplasia, Prolonged neonatal jaundice, Progressi...	OMIM:210710
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Renal cell carcinoma, Renal cyst	OMIM:135150
Mosaic Trisomy 9	Hypoplastic female external genitalia, Abnormal liver lobulation, Abnormal fallopian tube morphol...	ORPHA:99776
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Hepatomegaly, Polysplenia, Hepatic fibrosis, Pancreatic fibrosis, Cystic renal d...	OMIM:200995
Nephronophthisis 1	Polyuria, Nephronophthisis, Anemia, Hyposthenuria, Tubular basement membrane disintegration, Tubu...	OMIM:256100
Meckel Syndrome, Type 4	Renal cyst, Bile duct proliferation	OMIM:611134
Pagod Syndrome	Renal hypoplasia/aplasia, Abnormal testis morphology, Female pseudohermaphroditism, Abnormality o...	ORPHA:991
Joubert Syndrome 35	Recurrent urinary tract infections, Hydronephrosis, Multicystic kidney dysplasia, Renal fibrosis	OMIM:618161
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Multicystic kidney dysplasia, Renal cyst, Congenital hepatic fibrosis	ORPHA:2031
Ulbright-Hodes Syndrome	Clitoral hypertrophy, Enlarged labia minora, Maternal diabetes, Polycystic kidney dysplasia, Abno...	ORPHA:3404
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Jaundice, Pancreatic cysts, Renal cyst, Polycystic liver disease, Bile duct proliferation, Nephri...	OMIM:208500
Diaphanospondylodysostosis	Multiple renal cysts	ORPHA:66637
Lissencephaly Syndrome, Norman-Roberts Type	Hypoplastic spleen	ORPHA:89844
Transketolase Deficiency	Hepatomegaly, Increased level of ribose in urine, Renal cyst, Attention deficit hyperactivity dis...	ORPHA:488618
Bardet-Biedl Syndrome 1	Abnormality of the kidney, Abnormality of the ovary, Nephrogenic diabetes insipidus, Decreased te...	OMIM:209900
Nephronophthisis 11	Polyuria, Nephronophthisis, Anemia, Tubular basement membrane disintegration, Hepatic fibrosis, R...	OMIM:613550
Cushing Syndrome Due To Ectopic Acth Secretion	Pheochromocytoma, Adrenal hyperplasia, Pulmonary carcinoid tumor, Lymphopenia, Medullary thyroid ...	ORPHA:99889
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Cryptorchidism, Fetal megacystis, Multicystic kidney dysplasia	ORPHA:73246
Nephronophthisis 4	Polyuria, Nephronophthisis, Anemia, Tubulointerstitial fibrosis, Renal tubular atrophy, Stage 5 c...	OMIM:606966
Cushing Disease	Increased circulating ACTH level, Dementia, Memory impairment, Decreased eosinophil count, Depres...	ORPHA:96253
Hydrolethalus Syndrome 1	Adrenal gland dysgenesis, Hypospadias, Abnormal vagina morphology, Accessory spleen, Hydronephros...	OMIM:236680
Pallister-Hall Syndrome	Decreased response to growth hormone stimulation test, Hydroureter, Ectopic kidney, Adrenal hypop...	OMIM:146510
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Cryptorchidism, Horseshoe kidney, Renal cyst, Abnormality of the endocrine system	ORPHA:166035
Peroxisome Biogenesis Disorder 4A (Zellweger)	Hepatomegaly, Renal cyst	OMIM:614862
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal salt wasting, Anemia, Decreased glomerular filtration rate, Glomerular sclerosis, Tubuloint...	OMIM:174000
Tuberous Sclerosis 1	Adenoma sebaceum, Renal cell carcinoma, Renal cyst, Precocious puberty, Hypothyroidism, Attention...	OMIM:191100
Femoral-Facial Syndrome	Abnormal renal collecting system morphology, Maternal diabetes, Polycystic kidney dysplasia, Rena...	OMIM:134780
Congenital Disorder Of Glycosylation, Type Ia	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Proximal tubulopathy, Rena...	OMIM:212065
Chédiak-Higashi Syndrome	Anemia, Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancytopenia, Abnormal natura...	ORPHA:167
Trisomy 1Q	Congenital megaureter, Hydronephrosis, Small scrotum, Ambiguous genitalia, Cryptorchidism, Multic...	ORPHA:261344
Harrod Syndrome	Cryptorchidism, Multicystic kidney dysplasia, Hypospadias	ORPHA:2115
Verheij Syndrome	Renal agenesis, Renal hypoplasia, Renal cyst	OMIM:615583
Roberts-Sc Phocomelia Syndrome	Clitoral hypertrophy, Enlarged labia minora, Hypospadias, Long penis, Accessory spleen, Polycysti...	OMIM:268300
Mosaic Variegated Aneuploidy Syndrome 1	Hypospadias, Multicystic kidney dysplasia, Bifid scrotum, Renal cyst, Nephroblastoma, Ambiguous g...	OMIM:257300
Mckusick-Kaufman Syndrome	Hydrometrocolpos, Renal hypoplasia/aplasia, Glandular hypospadias, Urogenital sinus anomaly, Hydr...	ORPHA:2473
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Abnormal se...	ORPHA:90796
D-Bifunctional Protein Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Renal cyst, B...	OMIM:261515
Hypoplasminogenemia	Cervicitis, Nephrolithiasis, Abnormal fallopian tube morphology, Abnormality of the ovary	ORPHA:722
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Iron deficiency anemia, Precocious puberty with Sertoli cell tumor, Abn...	OMIM:175200
Kleefstra Syndrome	Supernumerary nipple, Hypospadias, Hypoplasia of penis, Vesicoureteral reflux, Renal cyst, Hydron...	ORPHA:261494
Tuberous Sclerosis 2	Adenoma sebaceum, Renal cell carcinoma, Renal cyst, Precocious puberty, Hypothyroidism, Renal ang...	OMIM:613254
Diaphanospondylodysostosis	Enlarged kidney, Abnormal liver lobulation, Nephroblastomatosis, Nephrogenic rest, Horseshoe kidn...	OMIM:608022
Trisomy 20P	Abnormality of the kidney, Hypospadias, Abnormality of the ureter, Cognitive impairment, Hydronep...	ORPHA:261318
Meckel Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Accessory spleen, Asplenia, Male pseudohermap...	ORPHA:564
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Megacystis, Cryptorchidism, Hydroureter, Multicystic kidney dysplasia	ORPHA:2241
Lymphangioleiomyomatosis	Renal neoplasm, Hematuria, Lymphadenopathy, Abnormality of the lymphatic system, Cognitive impair...	ORPHA:538
Bor Syndrome	Renal hypoplasia/aplasia, Renal insufficiency, Vesicoureteral reflux, Ureteropelvic junction obst...	ORPHA:107
Ciliary Dyskinesia, Primary, 53	Cardiomegaly, Hypoplastic spleen, Polysplenia, Abdominal situs inversus	OMIM:620642
Penile Agenesis	Hydroureter, Maternal diabetes, Abnormality of the bladder, Bilateral renal agenesis, Absent peni...	ORPHA:49
Bardet-Biedl Syndrome	Elevated circulating hepatic transaminase concentration, Hypoplasia of penis, Hypoplasia of the o...	ORPHA:110
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Hydroureter, Hypercalciuria, Renal cyst, Ureteral stenosis, Nephrocalcinosis	OMIM:615398
Genitopatellar Syndrome	Clitoral hypertrophy, Hydronephrosis, Small scrotum, Cryptorchidism, Multicystic kidney dysplasia	ORPHA:85201
Beckwith-Wiedemann Syndrome	Enlarged kidney, Ureteral duplication, Multiple renal cysts, Splenomegaly, Cardiomegaly, Abnormal...	ORPHA:116
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Acute kidney injury, Ureteral duplication, Nephronophthisis, Cholangitis, Anemia, Hepatomegaly, C...	OMIM:266920
Cornelia De Lange Syndrome 1	Ectopic kidney, Hypospadias, Abnormal renal morphology, Hypoplastic male external genitalia, Vesi...	OMIM:122470
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Unilateral renal agenesis, Hypospadias, Pelvic kidney, Renal cyst, Hydronephrosis, Attention defi...	ORPHA:464311
Mosaic Trisomy 1	Renal cortical cysts, Renal cyst, Hepatic agenesis, Penile hypospadias, Micropenis	ORPHA:1692
Von Hippel-Lindau Disease	Elevated urinary catecholamine level, Neoplasm of the pancreas, Pancreatic endocrine tumor, Adren...	ORPHA:892
Smith-Lemli-Opitz Syndrome	Cholestatic liver disease, Bifid scrotum, Splenomegaly, Small scrotum, Septate vagina, Hepatic st...	OMIM:270400
Tetraamelia-Multiple Malformations Syndrome	Cryptorchidism, Multicystic kidney dysplasia, Vaginal atresia	ORPHA:3301
Microgastria-Limb Reduction Defect Syndrome	Renal hypoplasia/aplasia, Hepatomegaly, Rectovaginal fistula, Perineal fistula, Renal agenesis, C...	ORPHA:2538
Hennekam-Beemer Syndrome	Pneumonia, Mastocytosis	ORPHA:2135
Nabais Sa-De Vries Syndrome, Type 2	Hypothyroidism, Multicystic kidney dysplasia	OMIM:618829
Developmental Delay With Or Without Dysmorphic Facies And Autism	Vesicoureteral reflux, Renal cyst, Microphallus, Renal hypoplasia, Hydronephrosis, Small scrotum,...	OMIM:618454
Distal Renal Tubular Acidosis	Low-molecular-weight proteinuria, Hypocitraturia, Decreased glomerular filtration rate, Renal pot...	ORPHA:18
2Q37 Microdeletion Syndrome	Nephroblastoma, Attention deficit hyperactivity disorder, Multicystic kidney dysplasia, Supernume...	ORPHA:1001
Joubert Syndrome 14	Irritability, Renal cyst	OMIM:614424
Aromatase Deficiency	Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism	OMIM:613546
Fryns Syndrome	Ureteral duplication, Hypospadias, Bifid scrotum, Bicornuate uterus, Renal cyst, Renal agenesis, ...	OMIM:229850
Braddock-Carey Syndrome 1	Thrombocytopenia, Multicystic kidney dysplasia	OMIM:619980
2P15P16.1 Microdeletion Syndrome	Supernumerary nipple, Decreased testicular size, Hydronephrosis, Hypogonadism, Attention deficit ...	ORPHA:261349
Fliedner-Zweier Syndrome	Hydronephrosis, Multicystic kidney dysplasia, Unilateral renal agenesis	OMIM:620511
Joubert Syndrome 2	Hypoplastic male external genitalia, Nephronophthisis, Renal insufficiency, Renal cyst	OMIM:608091
Cranioectodermal Dysplasia 2	Hepatomegaly, Portal fibrosis, Cholangitis, Elevated circulating hepatic transaminase concentrati...	OMIM:613610
Fryns Syndrome	Hypospadias, Vesicoureteral reflux, Bicornuate uterus, Hydronephrosis, Cryptorchidism, Multicysti...	ORPHA:2059
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Periportal fibrosis, Hypoplastic nipples, Renal hypoplasia, Splenomegaly, Ambiguous...	OMIM:269860
Attenuated Familial Adenomatous Polyposis	Thyroid adenoma, Uterine leiomyoma, Multiple renal cysts	ORPHA:220460
Marden-Walker Syndrome	Epispadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Abnorm...	ORPHA:2461
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Renal agenesis, Increased urine alpha-ketoglutarate concentration, Cystic renal dysplasia	OMIM:220500
Atelosteogenesis Type I	Abnormal pancreatic duct morphology, Multiple renal cysts	ORPHA:1190
Dyrk1A-Related Intellectual Disability Syndrome	Breast hypoplasia, Unilateral renal agenesis, Hypospadias, Pelvic kidney, Anterior pituitary hypo...	ORPHA:464306
Alagille Syndrome 1	Cirrhosis, Elevated circulating hepatic transaminase concentration, Duplicated collecting system,...	OMIM:118450
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Congenital megaureter, Hypercalciuria, Renal cyst, Precocious puberty, Nephro...	ORPHA:369837
Immunodeficiency 96	Increased mean corpuscular volume, Increased proportion of gamma-delta T cells, Multicystic kidne...	OMIM:619774
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Renal hypoplasia, Cryptorchidism, Ambiguous genitalia, Renal cyst	OMIM:616300
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Absence of labia majora, Hypospadias, Hypoplastic labia minora, Absent scrotum, Renal cyst, Atten...	ORPHA:495875
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Anemia, Vesicoureteral reflux, Renal cyst, Renal hypoplasia, Hydronephrosis...	OMIM:618460
Turner Syndrome Due To Structural X Chromosome Anomalies	Cholestatic liver disease, Delayed puberty, Cirrhosis, Renal hypoplasia/aplasia, Elevated circula...	ORPHA:99413
Turner Syndrome	Cholestatic liver disease, Delayed puberty, Cirrhosis, Renal hypoplasia/aplasia, Elevated circula...	ORPHA:881
Mosaic Monosomy X	Cholestatic liver disease, Delayed puberty, Cirrhosis, Renal hypoplasia/aplasia, Elevated circula...	ORPHA:99228
Monosomy X	Cholestatic liver disease, Delayed puberty, Cirrhosis, Renal hypoplasia/aplasia, Elevated circula...	ORPHA:99226
Joubert Syndrome 1	Hepatic fibrosis, Nephropathy, Renal cyst	OMIM:213300
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hydroureter, Hypospadias, Hepatomegaly, Hypoplasia of penis, Supernumerary ...	ORPHA:373
Doors Syndrome	Congenital hypothyroidism, Adrenal hyperplasia, Hydronephrosis, Increased urine alpha-ketoglutara...	ORPHA:79500
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Renal dysplasia, Decreased response to growth hormone stimulation test, Renal cyst	OMIM:617260
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Annular pancreas, Hypospadias, Vesicoureteral reflux, Renal cyst, Attention deficit hyperactivity...	OMIM:616975
Histiocytoid Cardiomyopathy	Cardiomegaly, Polycystic ovaries, Hepatomegaly, Renal cyst	ORPHA:137675
Severe Generalized Junctional Epidermolysis Bullosa	Renal tubular epithelial necrosis, Hydroureter, Anemia, Duplicated collecting system, Abnormality...	ORPHA:79404
1P36 Deletion Syndrome	Abnormality of the kidney, Annular pancreas, Abnormal female external genitalia morphology, Hypos...	ORPHA:1606
Oculocerebrorenal Syndrome Of Lowe	Delayed puberty, Abnormal circulating calcium-phosphate regulating hormone concentration, Nephroc...	ORPHA:534
Carney Complex	Ductal carcinoma in situ, Neoplasm of the pancreas, Pituitary growth hormone cell adenoma, Ovaria...	ORPHA:1359
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Renal cyst, Uterus didelphys, Renal hypoplasia, Urethrovaginal fistula, Hydr...	ORPHA:93271
Proximal 16P11.2 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Multicystic kidney dysplasia	ORPHA:261197
Branchio-Oculo-Facial Syndrome	Renal agenesis, Hydronephrosis, Multicystic kidney dysplasia	ORPHA:1297
Cutis Marmorata Telangiectatica Congenita	Displacement of the urethral meatus, Hypothyroidism, Multicystic kidney dysplasia, Cognitive impa...	ORPHA:1556
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Horseshoe kidney, Renal cyst	OMIM:250410
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Renal cyst	OMIM:615560
Smith-Lemli-Opitz Syndrome	Clitoral hypertrophy, Renal hypoplasia/aplasia, Abnormality of the gallbladder, Hypospadias, Hypo...	ORPHA:818
Schinzel-Giedion Syndrome	Annular pancreas, Hypospadias, Nephrolithiasis, Renal cyst, Abnormality of the ureter, Central hy...	ORPHA:798
Focal Dermal Hypoplasia	Renal hypoplasia/aplasia, Cognitive impairment, Hydronephrosis, Acute hepatic failure, Multicysti...	ORPHA:2092
Radio-Renal Syndrome	Renal dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Multicystic kidney dysplasia	ORPHA:3015
Townes-Brocks Syndrome	Delayed puberty, Abnormality of the kidney, Ectopic kidney, Hypospadias, Hypoplasia of penis, Abn...	ORPHA:857
Jacobsen Syndrome	Annular pancreas, Bone marrow hypocellularity, Hydronephrosis, Thrombocytopenia, Attention defici...	ORPHA:2308
Joubert Syndrome 21	Hyperechogenic kidneys, Splenomegaly, Renal cyst	OMIM:615636
Robinow Syndrome	External genital hypoplasia, Multicystic kidney dysplasia, Clitoral hypoplasia, Decreased serum t...	ORPHA:97360
Thauvin-Robinet-Faivre Syndrome	Renal cyst, Transient neutropenia, Bifid ureter, Renal dysplasia, Renal malrotation, Nephroblastoma	OMIM:617107
Mosaic Variegated Aneuploidy Syndrome	Vaginal neoplasm, Hypothyroidism, Acute lymphoblastic leukemia, Nephroblastoma, Ambiguous genital...	ORPHA:1052
Distal Deletion 15Q	Decreased serum insulin-like growth factor 1, Hypospadias, Multicystic kidney dysplasia, Abnormal...	ORPHA:1596
Leukocyte Adhesion Deficiency	Perianal abscess, Severe periodontitis, Impaired platelet aggregation, Sinusitis, Bone marrow hyp...	ORPHA:2968
Orofaciodigital Syndrome Type 1	Elevated circulating hepatic transaminase concentration, Multicystic kidney dysplasia, Renal insu...	ORPHA:2750
Neuromuscular Oculoauditory Syndrome	Reduced renal corticomedullary differentiation, Multiple renal cysts	OMIM:618733
Trisomy 10P	Absent gallbladder, Abnormality of the kidney, Multiple renal cysts, Rectovaginal fistula	ORPHA:171929
Hajdu-Cheney Syndrome	Delayed puberty, Hepatomegaly, Hypospadias, Splenomegaly, Multiple renal cysts	ORPHA:955
Proteus Syndrome	Enlarged kidney, Ovarian neoplasm, Long penis, Testicular neoplasm, Diabetes insipidus, Enlarged ...	ORPHA:744
Williams Syndrome	Hypoplasia of penis, Nephrocalcinosis, Multiple renal cysts, Urethral stenosis, Abnormal tubuloin...	ORPHA:904
Simpson-Golabi-Behmel Syndrome, Type 1	Enlarged kidney, Hepatomegaly, Hypospadias, Renal cyst, Cryptorchidism, Hydronephrosis, Splenomeg...	OMIM:312870
Tetrasomy 9P	Jaundice, Biliary atresia, Recurrent urinary tract infections, Oligozoospermia, Hydronephrosis, M...	ORPHA:3310
Townes-Brocks Syndrome 1	Hypospadias, Rectovaginal fistula, Renal insufficiency, Vesicoureteral reflux, Bifid scrotum, Rec...	OMIM:107480
Autosomal Recessive Robinow Syndrome	Hypoplastic female external genitalia, Hypoplasia of penis, Hydronephrosis, Cryptorchidism, Multi...	ORPHA:1507
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Renal cyst	OMIM:617478
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Enlarged kidney, Chronic neutropenia, Transient neutropenia, Bifid ureter, Nephroblastoma, Renal ...	ORPHA:500095
Cornelia De Lange Syndrome	Delayed puberty, Hypospadias, Multicystic kidney dysplasia, Hypoplasia of penis, Vesicoureteral r...	ORPHA:199
Peters Plus Syndrome	Renal hypoplasia/aplasia, Ureteral duplication, Hypospadias, Anterior hypopituitarism, Hypoplasia...	ORPHA:709
Genitopatellar Syndrome	Clitoral hypertrophy, Enlarged labia minora, Multicystic kidney dysplasia, Labial hypoplasia, Hyp...	OMIM:606170
C Syndrome	Renal hypoplasia/aplasia, Female pseudohermaphroditism, Cryptorchidism, Multicystic kidney dyspla...	ORPHA:1308
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Decreased testicular size, Hydronephrosis, Multicystic kidney dysplasia, Micropenis	OMIM:615287
Cerebrocostomandibular Syndrome	Horseshoe kidney, Ectopic kidney, Renal cyst	OMIM:117650
Spondylocarpotarsal Synostosis Syndrome	Renal cyst	OMIM:272460
Osteopathia Striata With Cranial Sclerosis	Multicystic kidney dysplasia	OMIM:300373
Branchiooculofacial Syndrome	Hypospadias, Renal cyst, Renal agenesis, Ectopic thymus tissue, Cryptorchidism, Supernumerary nipple	OMIM:113620
Cerebrocostomandibular Syndrome	Multicystic kidney dysplasia	ORPHA:1393
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Pelvic kidney, Vesicoureteral re...	ORPHA:261537
Pmm2-Cdg	Abnormal renal tubule morphology, Abnormal liver parenchyma morphology, Hyperplastic labia majora...	ORPHA:79318
Mowat-Wilson Syndrome	Abnormality of the kidney, Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Pelvi...	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Pelvic kidney, Vesicoureteral re...	ORPHA:261552
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Unilateral renal agenesis, Hypospadias, Renal agenesis, Renal dysplasia, Cryptorchidism, Multicys...	OMIM:308205
Pallister-Killian Syndrome	Aplasia of the upper vagina, Hypospadias, Small scrotum, Labial hypoplasia, Aplasia of the uterus...	OMIM:601803
Craniofacial Microsomia 1	Ectopic kidney, Vesicoureteral reflux, Renal agenesis, Ureteropelvic junction obstruction, Multic...	OMIM:164210

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 Mrgprb2

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Mrgprb2.

No publications found that use IMPC mice or data for Mrgprb2.

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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
Mrgprb2^em1(IMPC)Tcp	Intra-exon deletion	Mice, Tissue

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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Gene: Mrgprb2 MGI:2441674

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression