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Gene: Klrb1 MGI:96877

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Gene Summary

Name:
killer cell lectin-like receptor subfamily B member 1
Synonyms:
Ly55,  Gm4696,  4930431A04Rik,  Nkrp1g,  Ly-55

Order Alleles

IMPC Data Collections

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 System Allele Zyg Sex Life Stage P Value
increased follicular B cell number Klrb1tm1b(EUCOMM)Wtsi HOM Late adult 4.70×10-06
abnormal seminal vesicle morphology Klrb1tm1b(EUCOMM)Wtsi HOM Early adult 0.00
abnormal kidney morphology Klrb1tm1b(EUCOMM)Wtsi HOM Late adult 0.00
abnormal liver morphology Klrb1tm1b(EUCOMM)Wtsi HOM Late adult 0.00
enlarged cecum Klrb1tm1b(EUCOMM)Wtsi HOM Late adult 0.00
decreased leukocyte cell number Klrb1tm1b(EUCOMM)Wtsi HOM Late adult 7.75×10-05
abnormal seminal vesicle morphology Klrb1tm1b(EUCOMM)Wtsi HOM Late adult 0.00
increased grip strength Klrb1tm1b(EUCOMM)Wtsi HOM Early adult 5.16×10-07
dilated aorta Klrb1tm1b(EUCOMM)Wtsi HOM Early adult 1.51×10-14
polycystic kidney Klrb1tm1b(EUCOMM)Wtsi HOM Late 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.

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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Human diseases caused by Klrb1 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.

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

The table below shows human diseases predicted to be associated to Klrb1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... OMIM:617610
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... OMIM:615436
Aortic Aneurysm, Familial Thoracic 6
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... OMIM:611788
Moyamoya Disease 5
Ascending tubular aorta aneurysm, Moyamoya phenomenon OMIM:614042
RCAD (renal cysts and diabetes)
Abnormality of the liver, Multiple renal cysts DECIPHER:47
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm OMIM:617349
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Cholestasis, Periportal fibrosis, Polycystic... OMIM:615382
Aortic Aneurysm, Familial Thoracic 4
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th... OMIM:132900
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome... OMIM:263200
Hepatorenocardiac Degenerative Fibrosis
Elevated hepatic transaminase, Portal hypertension, Hepatocellular carcinoma, Hypersplenism, Jaun... OMIM:619902
Polycystic Kidney Disease 7
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... OMIM:620056
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Colonic diverticula, Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia OMIM:173900
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Pancreatic adenocarcinoma, Nephrolithiasis, Papillary renal cell carcinoma, ... OMIM:145001
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extracellular matrix accumul... ORPHA:229
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Intestinal malrotation, Abnormality of the pancreas, Abnormal liver... ORPHA:3032
Caroli Syndrome
Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Hepatomegaly,... ORPHA:480520
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Campomelia, Cumming Type
Pancreatic cysts, Polycystic liver disease, Polysplenia, Polycystic kidney dysplasia OMIM:211890
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Hepatomegaly, Portal hypertension, Malformation of the hepatic ductal... OMIM:208540
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Abnormality of t... OMIM:617805
Renal Dysplasia, Cystic, Susceptibility To
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... OMIM:601331
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... OMIM:618061
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ... ORPHA:53035
Bardet-Biedl Syndrome 10
Renal insufficiency, Hypogonadism, Renal cyst OMIM:615987
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism, Patent ductus arteriosus, Aortic aneurysm ORPHA:261102
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hepatic cysts, Polycystic kidney dysplasia, Decreased liver function OMIM:600666
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Nephronophthisis 20
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... OMIM:617271
Meckel Syndrome, Type 8
Cleft palate, Polycystic kidney dysplasia, Ambiguous genitalia, Hyperechogenic kidneys, Enlarged ... OMIM:613885
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal agenesis, External genital hypoplasia, Stage 5 chronic kidney disease,... OMIM:615993
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly, Polycystic kidney dysplasia OMIM:614859
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Peutz-Jeghers Syndrome
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma... ORPHA:2869
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Recurrent urinary tract infections, Renal insufficiency, Jaundice, Stage 5 chronic ... OMIM:613095
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... OMIM:619924
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas,... ORPHA:2924
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, P... ORPHA:731
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Bardet-Biedl Syndrome 4
External genital hypoplasia, Abnormality of the kidney, Cryptorchidism, Renal cyst, Hypogonadism OMIM:615982
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Femoral-Facial Syndrome
Renal hypoplasia/aplasia, Cryptorchidism, Long penis, Abnormal localization of kidney, Cleft pala... ORPHA:1988
Aorto-Ventricular Tunnel
Aorto-ventricular tunnel, Aortic root aneurysm, Abnormal aortic morphology, Abnormal coronary art... ORPHA:3400
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl... ORPHA:480536
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Polycystic kidney dysplasia, Hepatosplenomegaly OMIM:608776
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Proxi... OMIM:231680
Aortic Aneurysm, Familial Thoracic 9
Ascending aortic dissection, Thoracic aortic aneurysm, Aortic tortuosity OMIM:616166
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Cleft palate, Aminoacidu... OMIM:214110
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Cryptorchidism, ... OMIM:613834
Branchiootorenal Syndrome 1
Renal malrotation, Intestinal malrotation, Unilateral renal agenesis, Renal steatosis, Cleft pala... OMIM:113650
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Portal hypertension, Hiatus hernia, Pancreatic cysts, Splenomegaly, Hepatitis, Rena... OMIM:610199
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Mckusick-Kaufman Syndrome
Hydroureter, Aganglionic megacolon, Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, ... OMIM:236700
Arima Syndrome
Hepatomegaly, Proteinuria, Polyuria, Esophageal varix, Stage 5 chronic kidney disease, Hematuria,... OMIM:243910
Mass Syndrome
Ascending aortic dissection, Aortic aneurysm OMIM:604308
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Polycystic liver disease, Renal cyst OMIM:174050
Aortic Valve Disease 2
Calcification of the aorta, Coarctation of aorta, Ascending aortic dissection, Aortic tortuosity,... OMIM:614823
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Decreased liver function, Renal cyst OMIM:614870
Gillessen-Kaesbach-Nishimura Syndrome
Periportal fibrosis, Bicornuate uterus, Polycystic kidney dysplasia OMIM:263210
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Short uvula, Renal hypoplasia, Renal cyst, Cleft palate, Hepatic fibrosis, High pala... OMIM:614091
Syndromic Diarrhea
Hepatomegaly, Villous atrophy, Gastritis, Increased mean platelet volume, Splenomegaly, Renal hyp... ORPHA:84064
Fanconi Anemia, Complementation Group O
External genital hypoplasia, Cryptorchidism, Rectal atresia, Stage 5 chronic kidney disease, Rena... OMIM:613390
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Ureteral duplication, Renal insufficiency, Hepatomegaly, Elevated hepatic transa... OMIM:608836
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Patent ductus arteriosus, Abnormal aortic arch morphology ORPHA:1455
Rhyns Syndrome
Hypopituitarism, Multicystic kidney dysplasia, Abnormality of the liver, Nephronophthisis ORPHA:140976
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Elevated hepatic tr... ORPHA:79303
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Renal cyst, Focal segmental glomerulosclerosis, Neutropenia, Nephropathy,... OMIM:617056
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia, Multinodular goiter ORPHA:2091
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
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Familial Adenomatous Polyposis 4
Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Renal cyst, Ovarian cy... OMIM:617100
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Abnormality of the spleen, Anorectal anomaly, Abnormality of the ureter... ORPHA:1834
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Septate vagi... ORPHA:2237
Distal Triplication 15Q
Abnormal external genitalia, Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe... ORPHA:314588
Trisomy 17P
Hypoplasia of penis, Urethral valve, Urethral stenosis, Cleft palate, Macroglossia, High palate, ... ORPHA:261290
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Thoracic aortic aneurysm, Fusiform ascending tubular aorta aneurysm, Ascend... OMIM:617168
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, High, narrow palate, Red-brown urine, R... ORPHA:228308
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Glutaric aciduria, Lacticaciduri... ORPHA:26791
Meckel Syndrome, Type 9
Ambiguous genitalia, Multicystic kidney dysplasia OMIM:614209
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis,... ORPHA:157
Thomas Syndrome
Multicystic kidney dysplasia, Cleft palate, Renal hypoplasia/aplasia ORPHA:3316
Prune Belly Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infection... ORPHA:2970
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Villous atrophy, Renal cyst, Proximal tubulopathy, Hepatic fibrosis, Protein-losing... OMIM:602579
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune ... OMIM:603909
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased proportion of memory T cells, Increased B cell count, Hepatosplenomegaly OMIM:618982
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Abnormal internal genitalia, Multicystic kidney dysplasia, Hydroureter, Anal atresia, Intestinal ... ORPHA:2973
Genitopalatocardiac Syndrome
Gonadal dysgenesis, male, Hypospadias, Cleft palate, Renal cyst OMIM:231060
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Intestinal malrotation, Hamartoma of tongue, Cleft palate, Polycystic kidney dysplasia, Ambiguous... OMIM:613091
Igg4-Related Aortitis
Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Dila... ORPHA:449400
Peroxisome Biogenesis Disorder 5A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Elevated circulating aspartate aminot... OMIM:614866
Congenital Heart Defects, Multiple Types, 2
Tetralogy of Fallot, Aortic aneurysm OMIM:614980
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Meckel Syndrome, Type 3
Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Cleft palat... OMIM:607361
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Renal cyst, Renal cell carcinoma, Large intestinal polyposis, Colon cancer OMIM:135150
Fibromuscular Dysplasia, Arterial
Arterial fibromuscular dysplasia, Stroke, Aortic dissection OMIM:135580
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal large intestine morphology, Esophageal neopla... ORPHA:2198
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Transient ischemic attack, Subarachnoid hemorrhage, Descending thoracic aorta aneurysm, Patent du... ORPHA:91387
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Abscess, Abnormality... ORPHA:400
Indomethacin Embryofetopathy
Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology ORPHA:1909
Coach Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Unilateral renal agenesis, Portal hypertension, Sple... OMIM:216360
Interstitial Nephritis, Karyomegalic
Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, H... OMIM:614817
Odontochondrodysplasia 1
Polycystic kidney dysplasia, Nephronophthisis OMIM:184260
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Ute... ORPHA:220460
Renal Tubular Dysgenesis
Renotubular dysgenesis, Nephropathy, Proximal tubulopathy, Multiple renal cysts ORPHA:3033
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Cryptorchidism, Cystic renal dysplasia, Ectopic kidney OMIM:613730
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Hepatic fibrosis, Portal hypertension, Malformation ... ORPHA:84081
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Right aortic arch, Pulmonary artery atresia, Tetralogy of Fal... OMIM:618780
Loeys-Dietz Syndrome 6
Carotid artery dissection, Thoracic aortic aneurysm, Varicose veins, Dilatation of the cerebral a... OMIM:619656
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hyperechogenic kidneys, Intestinal malrotation, Polycystic kidney dysplasia OMIM:617866
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Glomerulopathy, Renal insufficiency, Multicystic kidney dysplasia,... ORPHA:93111
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Cholestasis, Hematuria, Renal tub... OMIM:610205
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pancreatic fibrosis, Intestinal malrotation, Hamartoma of tongue, Microglossia, Cleft palate, Hep... OMIM:263520
Periventricular Nodular Heterotopia
Patent ductus arteriosus, Aortic aneurysm ORPHA:98892
Hypoplastic Left Heart Syndrome 1
Coarctation of aorta OMIM:241550
Meckel Syndrome, Type 6
Abnormal internal genitalia, Absent gallbladder, Renal cyst, Horseshoe kidney, Cleft palate, Cyst... OMIM:612284
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... OMIM:603860
Aortic Aneurysm, Familial Thoracic 12
Ascending tubular aorta aneurysm, Aortic root aneurysm, Ascending aortic dissection OMIM:619825
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Polycystic liver disease, Hepatic cysts,... ORPHA:730
Meckel Syndrome, Type 1
Accessory spleen, Hypoplasia of the bladder, Renal agenesis, External genital hypoplasia, Malform... OMIM:249000
Aortic Valve Disease 3
Aortic root aneurysm, Ascending aortic dissection OMIM:618496
Hepatoportal Sclerosis
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenera... ORPHA:64743
Atrial Septal Defect 4
Coarctation of aorta OMIM:611363
Temtamy Syndrome
Aortic aneurysm ORPHA:1777
Joubert Syndrome 18
Cleft palate, Renal cyst, Horseshoe kidney, Lobulated tongue, Intrahepatic biliary atresia OMIM:614815
Phace Association
Anomalous branches of internal carotid artery, Patent ductus arteriosus, Arterial stenosis, Coarc... OMIM:606519
Distal Deletion 12Q
Unilateral cryptorchidism, Ectopic kidney, High, narrow palate, Pituitary adenoma, Esophageal atr... ORPHA:96149
Peroxisome Biogenesis Disorder 11A (Zellweger)
Elevated hepatic transaminase, Multiple renal cysts, Decreased liver function, Renal cyst OMIM:614883
Renal Cysts And Diabetes Syndrome
Renal cyst, Pancreatic hypoplasia, Atretic vas deferens, Hypospadias, Abnormality of the kidney, ... OMIM:137920
Meckel Syndrome 14
Ambiguous genitalia, Aplasia of the uterus, Hepatic fibrosis, Polycystic kidney dysplasia OMIM:619879
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Renal hypoplasia/aplasia, Cryptorchidism, Cleft palate, Multiple renal cysts, Vesicoureteral reflux ORPHA:1166
Axial Osteomalacia
Polycystic liver disease, Renal cyst OMIM:109130
Vacterl/Vater Association
Bifid scrotum, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ec... ORPHA:887
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Bardet-Biedl Syndrome 6
Vaginal atresia, Hypospadias, External genital hypoplasia, Renal cyst OMIM:605231
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Phelan-Mcdermid Syndrome
Abnormality of the kidney, Gastroesophageal reflux, High palate, Polycystic kidney dysplasia, Ves... OMIM:606232
Orofaciodigital Syndrome I
Proteinuria, Hamartoma of tongue, Pancreatic cysts, Cleft palate, Tongue nodules, Ovarian cyst, L... OMIM:311200
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ... OMIM:615415
Joubert Syndrome 16
Renal cyst, Nephronophthisis OMIM:614465
Meckel Syndrome, Type 10
Hypospadias, Malformation of the hepatic ductal plate, Renal cyst, Cleft palate, Micropenis, Bifi... OMIM:614175
Meckel Syndrome, Type 2
Cleft palate, Bile duct proliferation, Intestinal malrotation, Renal cyst OMIM:603194
Acrorenal-Mandibular Syndrome
Absent nipple, Renal agenesis, Abnormality of the ureter, Uterus didelphys, Narrow palate, Bicorn... OMIM:200980
Rin2 Syndrome
Cryptorchidism, Hypergonadotropic hypogonadism, Aortic aneurysm ORPHA:217335
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... OMIM:606966
Cardiomyopathy, Familial Restrictive, 3
Aortic aneurysm OMIM:612422
Nephronophthisis 1
Polyuria, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Hyposthenuria... OMIM:256100
Renal Hypoplasia, Bilateral
Proteinuria, Cryptorchidism, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta... ORPHA:97362
Meckel Syndrome, Type 5
Cleft palate, Bile duct proliferation, Renal cyst OMIM:611561
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Anal atresia, Gastrointestinal hemorrhage, Hypospadias, Aganglionic megacolon... ORPHA:567
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Renal insufficiency, Renal cyst, Nephrocalcinosis, 3-Methylglutaco... ORPHA:445038
Fragile X Syndrome
Macroorchidism, Ascending tubular aorta aneurysm ORPHA:908
Trisomy X
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3375
Say Syndrome
Proximal renal tubular acidosis, Cleft palate, Cystic renal dysplasia OMIM:181180
Tuberous Sclerosis Complex
Renal insufficiency, Abnormality of the kidney, Pituitary adenoma, Chronic kidney disease, Parath... ORPHA:805
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Abnormality of the gastrointestinal tract, Multicystic kidney dysplasia, Hydroureter, Intestinal ... ORPHA:2241
Nephronophthisis 11
Polyuria, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Renal cortico... OMIM:613550
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Renal agenesis, Intestinal malrotation, Renal hypopla... ORPHA:2538
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Abnormal m... ORPHA:2075
Campomelia, Cumming Type
Hepatomegaly, Multicystic kidney dysplasia, Pancreatic cysts, Abnormality of the pancreas, Cleft ... ORPHA:1318
Takayasu Arteritis
Ascending tubular aorta aneurysm, Vasculitis, Arterial stenosis, Vascular dilatation ORPHA:3287
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ... OMIM:200995
Bardet-Biedl Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Nephrotic syndrome, Hypoplasia... ORPHA:110
Hajdu-Cheney Syndrome
Hypospadias, Intestinal malrotation, Cryptorchidism, Renal cyst, High palate, Polycystic kidney d... OMIM:102500
Conotruncal Heart Malformations
Truncus arteriosus, Transposition of the great arteries, Double outlet right ventricle, Coarctati... OMIM:217095
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Pancreatic cysts, S... OMIM:267010
Joubert Syndrome 20
Renal cyst OMIM:614970
Ogden Syndrome
Global glomerulosclerosis, Cryptorchidism, Thrombocytopenia, Jaundice, Microvesicular hepatic ste... OMIM:300855
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Renal cell c... OMIM:193300
Diaphanospondylodysostosis
Multiple renal cysts, Cleft palate ORPHA:66637
Floating-Harbor Syndrome
Hypospadias, Renal agenesis, Precocious puberty, Cryptorchidism, Celiac disease, Dilatation of th... ORPHA:2044
Roberts Syndrome
Clitoral hypertrophy, Cryptorchidism, Long penis, Cleft palate, High palate, Polycystic kidney dy... ORPHA:3103
Autoimmune Lymphoproliferative Syndrome
Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative... ORPHA:3261
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Decrease... OMIM:614922
17Q12 Microdeletion Syndrome
Elevated hepatic transaminase, Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasi... ORPHA:261265
Epidermal Nevus Syndrome
Polycystic kidney dysplasia ORPHA:35125
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Coarctation of aorta, Right aortic arch, Total anomalous pulmonary v... OMIM:613854
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Inflammation of the large intestine, Hypopituitarism, Increased B cell count, Increased T cell count ORPHA:98813
Alveolar Echinococcosis
Liver abscess, Eosinophilia, Hepatic cysts, Cholangitis, Pancreatic cysts, Portal hypertension, A... ORPHA:284
15q26 overgrowth syndrome
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, High pa... DECIPHER:81
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cleft palate, Micropenis, Hamartoma of tongue, Polycystic kidney dysplasia OMIM:616546
Temtamy Syndrome
Aortic aneurysm OMIM:218340
Renal Coloboma Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... ORPHA:1475
Mckusick-Kaufman Syndrome
Urethral stricture, Multicystic kidney dysplasia, Aganglionic megacolon, Renal hypoplasia/aplasia... ORPHA:2473
Mody
Elevated hemoglobin A1c, Abnormality of the kidney, Hepatocellular adenoma, Renal cyst, Glycosuri... ORPHA:552
Joubert Syndrome 39
Polycystic kidney dysplasia OMIM:619562
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Double outlet right ventricle, Overriding aorta, Persistent left superior vena cava, Aortic aneurysm ORPHA:477817
Zellweger Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Hypospadias, Malabsorption, Cryptorchidism, Jaundice,... ORPHA:912
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Aortic aneurysm OMIM:620070
Penile Agenesis
Urethral atresia, male, Hydroureter, Rectal fistula, Cryptorchidism, Fetal pyelectasis, Bilateral... ORPHA:49
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Congenital hepatic fibrosis, Multicystic kidney dysplasia, Glossoptosis, Renal cyst ORPHA:2031
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal insufficiency, Renal cyst OMIM:611773
Joubert Syndrome 7
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis OMIM:611560
Macs Syndrome
Cryptorchidism, Dilation of Virchow-Robin spaces, Hypergonadotropic hypogonadism, Aortic aneurysm OMIM:613075
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... OMIM:120330
Hyperparathyroidism-Jaw Tumor Syndrome
Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Peptic ulce... ORPHA:99880
Polysyndactyly With Cardiac Malformation
Hepatic cysts, Renal cyst OMIM:263630
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta OMIM:212090
Pearson Syndrome
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Neut... ORPHA:699
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Proteinuria, Hypergonadotropic hypo... OMIM:212065
Parathyroid Carcinoma
Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Peptic ulce... ORPHA:143
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Stroke, Aortic dissect... OMIM:175050
Braddock-Carey Syndrome 1
Anteriorly placed anus, Cleft palate, Multicystic kidney dysplasia, Thrombocytopenia OMIM:619980
Joubert Syndrome 35
Recurrent urinary tract infections, Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis OMIM:618161
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Fetal megacystis, Intestinal pseudo-obstruction ORPHA:73246
Femoral-Facial Syndrome
Renal agenesis, Abnormal renal collecting system morphology, Cryptorchidism, Cleft palate, Hypopl... OMIM:134780
Mosaic Variegated Aneuploidy Syndrome 1
Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Cryptorchidism, Renal c... OMIM:257300
Joubert Syndrome With Hepatic Defect
Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, P... ORPHA:1454
Loeys-Dietz Syndrome 4
Arterial tortuosity, Ascending tubular aorta aneurysm, Aortic root aneurysm, Aortic dissection, A... OMIM:614816
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic... OMIM:613159
Mosaic Trisomy 9
Renal dysplasia, Hypoplasia of penis, Intestinal malrotation, Asplenia, Cryptorchidism, Horseshoe... ORPHA:99776
Arterial Tortuosity Syndrome
Pulmonary artery stenosis, Arterial stenosis, Aortic root aneurysm, Abnormal carotid artery morph... ORPHA:3342
Peroxisome Biogenesis Disorder 1B
Hyperoxaluria, Hepatomegaly, Renal cyst, Hepatic fibrosis, Cirrhosis OMIM:601539
Chromosome 17Q12 Deletion Syndrome
Elevated hepatic transaminase, Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent... OMIM:614527
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cleft palate, Vesico... ORPHA:107
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Ureteral agenesis, Renal dysplasia, Renal hypoplasia, Renal cyst OMIM:236500
Autosomal Recessive Multiple Pterygium Syndrome
Hypoplasia of penis, Small scrotum, Cryptorchidism, Absence of labia majora, Hypogonadism, Aortic... ORPHA:2990
Meckel Syndrome, Type 4
Cleft palate, Bile duct proliferation, Renal cyst OMIM:611134
Fryns Syndrome
Multicystic kidney dysplasia, Hypospadias, Aganglionic megacolon, Intestinal malrotation, Cryptor... ORPHA:2059
Monosomy 18Q
Bilateral cryptorchidism, Left aortic arch with right descending aorta and right ductus arteriosu... ORPHA:1600
Bardet-Biedl Syndrome 17
Polyuria, Stage 5 chronic kidney disease, Renal cyst, Hypogonadism, Micropenis OMIM:615994
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Thoracic aortic aneurysm, Patent ductus arteriosus, Partial anomalous pulmonary venous return, An... OMIM:619657
Bardet-Biedl Syndrome 12
Hydroureter, Hydrometrocolpos, Cystic renal dysplasia, Hypogonadism, Vaginal atresia, Hydronephrosis OMIM:615989
Loeys-Dietz Syndrome 2
Aortic arch aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus arte... OMIM:610168
Cornelia De Lange Syndrome 1
Hypospadias, Proteinuria, Ectopic kidney, Malrotation of colon, Cryptorchidism, High, narrow pala... OMIM:122470
Congenital Contractural Arachnodactyly
Aortic aneurysm ORPHA:115
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Peptic ulcer, Parathormone-independent increased renal tubular calcium reabs... OMIM:600740
Immunodeficiency 96
Multicystic kidney dysplasia, Increased mean corpuscular volume, Increased proportion of gamma-de... OMIM:619774
Verheij Syndrome
Cleft palate, Renal agenesis, Renal hypoplasia, Renal cyst OMIM:615583
Trisomy 13
Cryptorchidism, High, narrow palate, Abnormality of the ureter, Cleft palate, Multiple renal cyst... ORPHA:3378
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Aortic dissection, Arterial dissection, Abnormal venous morphology, Vascular dilatation, Aortic a... ORPHA:1900
Trisomy 1Q
Multicystic kidney dysplasia, Small scrotum, Cryptorchidism, Cleft palate, Congenital megaureter,... ORPHA:261344
Methimazole Embryofetopathy
Abnormal aortic morphology, Hypospadias, Coarctation of aorta ORPHA:1923
Fryns Syndrome
Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Hypospadias, Renal agenesis, Agan... OMIM:229850
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased testicular size, Renal dysplasia, Hydroureter, Decreased response t... OMIM:146510
Kleefstra Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Supernumerary nipple, Cryptorchidism, Pylo... ORPHA:261494
Lateral Meningocele Syndrome
Cryptorchidism, Patent ductus arteriosus, Aortic aneurysm OMIM:130720
Peroxisome Biogenesis Disorder 4A (Zellweger)
Hepatomegaly, Renal cyst OMIM:614862
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal insufficiency, Polycystic liver disease, Proteinuria, Pancreatic fibrosis, Pancreatic cysts... OMIM:208500
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morphology, Tetralogy of Fallot, ... ORPHA:99050
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Cryptorchidism, Renal hypoplasia, Renal cyst, Gastroesophageal reflux, Polycystic kidney dysplasi... OMIM:210710
Loeys-Dietz Syndrome
Aortic dissection, Arterial tortuosity, Patent ductus arteriosus, Uterine rupture, Arterial disse... ORPHA:60030
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent ductus arteriosus, Anomalous origin of right pulmonary artery from ascending aorta, Coarct... OMIM:610338
Ulbright-Hodes Syndrome
Abnormal penis morphology, Abnormal external genitalia, Enlarged labia minora, Cryptorchidism, Re... ORPHA:3404
Alport Syndrome
Renal glomerular foam cells, Aortic aneurysm, Clitoral hypertrophy, Abnormal aortic morphology ORPHA:63
Diaphanospondylodysostosis
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cleft palate, Abnormal liver lobulation,... OMIM:608022
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis, High palate OMIM:615398
Giant Cell Arteritis
Vasculitis, Double outlet right ventricle with subpulmonary ventricular septal defect without pul... ORPHA:397
Meacham Syndrome
Hypoplasia of penis, Cryptorchidism, Patent ductus arteriosus, Hydrometrocolpos, Tetralogy of Fal... ORPHA:3097
Harrod Syndrome
Cryptorchidism, Multicystic kidney dysplasia, High palate, Hypospadias ORPHA:2115
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Gastrointestinal dysmotility, Renal cyst, Gastroesophageal reflux, ... OMIM:270400
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Thoracic aortic aneurysm, Subarachnoid hemorrhage, Arterial tortuosit... OMIM:613795
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Renal hypoplasia, Renal cyst, Dysphagia, Neutropenia, Vesicoureteral reflux... OMIM:618460
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Hypospadias, Enlarged labia minora, Cryptorchidism, Long penis, Biliary tract a... OMIM:268300
Chromosome 18Q Deletion Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Cryptorchidism, Patent ductus... OMIM:601808
Bannayan-Riley-Ruvalcaba Syndrome
Intracranial hemorrhage, Aortic aneurysm, Arteriovenous malformation, Uterine neoplasm ORPHA:109
Meckel Syndrome
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, True hermaphroditism, Pancr... ORPHA:564
Nabais Sa-De Vries Syndrome, Type 2
Gastroesophageal reflux, Multicystic kidney dysplasia, High palate, Bilateral cleft lip and palate OMIM:618829
Distal Renal Tubular Acidosis
Hemolytic anemia, Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria,... ORPHA:18
Fixed Subaortic Stenosis
Ascending tubular aorta aneurysm, Patent ductus arteriosus, Coarctation of aorta ORPHA:3092
7Q11.23 Microduplication Syndrome
Hypospadias, Cryptorchidism, Patent ductus arteriosus, Aplasia/hypoplasia of the uterus, Aplasia/... ORPHA:96121
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ureteral duplication, Hepatomegaly, Cholangitis, Pancreatic cysts, Congenital hepatic fibrosis, S... OMIM:266920
Intellectual Developmental Disorder, Autosomal Dominant 66
Aortic root aneurysm, Transposition of the great arteries, Cerebral cavernous malformation OMIM:619910
Atelosteogenesis Type I
Malrotation of colon, Abnormal pancreatic duct morphology, Multiple renal cysts, Cleft palate ORPHA:1190
Cardiac Valvular Dysplasia 2
Ascending tubular aorta aneurysm, Pulmonary artery dilatation OMIM:620067
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Renal cyst, Cholestasis, Bile duct pro... OMIM:261515
Alkaptonuria
Coronary artery calcification, Aortic aneurysm OMIM:203500
Shprintzen-Goldberg Craniosynostosis Syndrome
Cryptorchidism, Aortic aneurysm OMIM:182212
Mosaic Trisomy 1
Hepatic agenesis, Renal cortical cysts, Renal cyst, Cleft palate, Micropenis, Penile hypospadias ORPHA:1692
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Cryptorchidism, Renal cyst, Horseshoe kidney ORPHA:166035
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Increased urine alpha-ketoglutarate concentration, Renal agenesis, Cleft palate, High palate, Cys... OMIM:220500
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Macroorchidism, Ascending tubular aorta aneurysm OMIM:309520
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Intestinal malrotation, Hamartoma of tongue, Splenomegaly, Renal hypoplasia, Lobula... OMIM:269860
Kaposiform Lymphangiomatosis
Pancreatic cysts, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Anemia, Abnormal spleen mor... ORPHA:464329
Marden-Walker Syndrome
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... ORPHA:2461
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Hydroureter, Recu... ORPHA:79404
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Ascending aortic dissection, Thoracic aorta calcification, Coarctation of a... ORPHA:402075
Trisomy 20P
Hypospadias, Abnormality of the kidney, Cryptorchidism, Abnormality of the ureter, Abnormal local... ORPHA:261318
Dyrk1A-Related Intellectual Disability Syndrome
Hypospadias, Anterior pituitary hypoplasia, Unilateral renal agenesis, Cryptorchidism, Pyloric st... ORPHA:464306
Osteogenesis Imperfecta, Type I
Aortic aneurysm OMIM:166200
Genitopatellar Syndrome
Multicystic kidney dysplasia, Small scrotum, Cryptorchidism, Gastroesophageal reflux, Hydronephro... ORPHA:85201
Pagod Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Abnormality of the spleen, Agonadism, Abn... ORPHA:991
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Precocious puberty, High, narrow palate, Hypercalciuria, Renal cyst, Nephroca... ORPHA:369837
Loeys-Dietz Syndrome 1
Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Aortic root an... OMIM:609192
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Hamartoma of tongue, Cryptorchidism, Renal hypoplasia, Renal cyst, Cleft palate, Lobulated tongue... OMIM:616300
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Vaginal atresia, Anal atresia ORPHA:3301
Cutis Laxa, Autosomal Recessive, Type Ia
Ascending tubular aorta aneurysm, Vascular tortuosity OMIM:219100
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Renal cyst, Posterior pituitary hypoplasi... ORPHA:464311
Transketolase Deficiency
Increased level of ribose in urine, Renal cyst, Hepatomegaly ORPHA:488618
Joubert Syndrome 2
Renal insufficiency, Renal cyst, High palate, Nephronophthisis, Hypoplastic male external genitalia OMIM:608091
Mosaic Variegated Aneuploidy Syndrome
Intestinal polyposis, Multicystic kidney dysplasia, Vaginal neoplasm, Cleft palate, Acute lymphob... ORPHA:1052
Developmental Delay With Or Without Dysmorphic Facies And Autism
Small scrotum, Supernumerary nipple, Cryptorchidism, Renal hypoplasia, Renal cyst, Cleft palate, ... OMIM:618454
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Thoracic aortic aneurysm, Ascending tubular aorta aneurysm, Aortic root aneurysm, Stroke ORPHA:536467
2Q37 Microdeletion Syndrome
Pyloric stenosis, Multicystic kidney dysplasia, Nephroblastoma, Supernumerary nipple ORPHA:1001
Seckel Syndrome 10
Abdominal aortic aneurysm, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:617253
Heterotaxy, Visceral, 8, Autosomal
Aortopulmonary collateral arteries, Right aortic arch, Pulmonary artery atresia, Double outlet ri... OMIM:617205
Beckwith-Wiedemann Syndrome
Hepatomegaly, Overgrowth of external genitalia, Hepatoblastoma, Cryptorchidism, Pancreatic hyperp... OMIM:130650
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Cryptorchidism, Aortic root aneurysm OMIM:301039
Marfanoid Habitus With Situs Inversus
Aortic root aneurysm, Persistent left superior vena cava OMIM:609008
Thauvin-Robinet-Faivre Syndrome
Renal malrotation, Transient neutropenia, Renal cyst, Macroglossia, Nephroblastoma, Bifid ureter,... OMIM:617107
Distal 22Q11.2 Microdeletion Syndrome
Truncus arteriosus, Aortic aneurysm ORPHA:261330
Joubert Syndrome 14
Cleft palate, Renal cyst OMIM:614424
Aneurysm-Osteoarthritis Syndrome
Arterial dissection, Arterial tortuosity, Patent ductus arteriosus, Dilatation of the cerebral ar... ORPHA:284984
Joubert Syndrome 1
Protruding tongue, Renal cyst, Macroglossia, Hepatic fibrosis, Nephropathy OMIM:213300
Koolen-De Vries Syndrome Due To A Point Mutation
Hypospadias, Decreased response to growth hormone stimulation test, Testicular neoplasm, Precocio... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Testicular neoplasm, Precocio... ORPHA:363958
Teebi Hypertelorism Syndrome 1
Hydrocele testis, Aortic root aneurysm, Bicornuate uterus, Shawl scrotum OMIM:145420
Meester-Loeys Syndrome
Ascending tubular aorta aneurysm, Aortic root aneurysm, Dilatation of the cerebral artery, Aortic... OMIM:300989
Cranioectodermal Dysplasia 2
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cholangitis, Splenomegaly, Bili... OMIM:613610
1P36 Deletion Syndrome
Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Cryptorchidism, Abnormality of the s... ORPHA:1606
2P15P16.1 Microdeletion Syndrome
Multicystic kidney dysplasia, Supernumerary nipple, Hydronephrosis, Hypogonadism, High palate, Dy... ORPHA:261349
Alagille Syndrome 1
Duplicated collecting system, Elevated hepatic transaminase, Hepatocellular carcinoma, Multiple s... OMIM:118450
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Cryptorchidism, Supernumerary nipple, Aortic aneurysm ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Cryptorchidism, Supernumerary nipple, Aortic aneurysm ORPHA:352665
Proximal 16P11.2 Microdeletion Syndrome
Pyloric stenosis, Multicystic kidney dysplasia, Gastroesophageal reflux, Cleft palate ORPHA:261197
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Pa... ORPHA:892
Heterotaxy, Visceral, 5, Autosomal
Patent ductus arteriosus, Partial anomalous pulmonary venous return, Dextrotransposition of the g... OMIM:270100
Branchio-Oculo-Facial Syndrome
High palate, Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis ORPHA:1297
Larsen Syndrome
Cryptorchidism, Aortic aneurysm OMIM:150250
Jacobsen Syndrome
Multicystic kidney dysplasia, Intestinal malrotation, Cryptorchidism, Pyloric stenosis, Duodenal ... ORPHA:2308
Fontaine Progeroid Syndrome
Prominent superficial veins, Small scrotum, Absent nipple, Cryptorchidism, Patent ductus arterios... OMIM:612289
Beckwith-Wiedemann Syndrome
Ureteral duplication, Hepatoblastoma, Vesicoureteral reflux, Nephropathy, Polycythemia, Hepatomeg... ORPHA:116
Aicardi-Goutières Syndrome
Micropenis, Aortic aneurysm, Calcification of the aorta, Moyamoya phenomenon ORPHA:51
Schinzel-Giedion Syndrome
Streak ovary, Hypospadias, Myeloid leukemia, Nephroblastoma, Aganglionic megacolon, Abnormality o... ORPHA:798
Glycogen Storage Disease Due To Acid Maltase Deficiency
Transient ischemic attack, Thoracic aortic aneurysm, Abnormal internal carotid artery morphology,... ORPHA:365
Radio-Renal Syndrome
Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, High, narrow palate, Rena... ORPHA:3015
Ehlers-Danlos Syndrome, Classic-Like, 2
Cryptorchidism, Aortic root aneurysm, Prominent superficial veins, Carotid artery stenosis OMIM:618000
Tatton-Brown-Rahman Syndrome
Cryptorchidism, Patent ductus arteriosus, Aortic root aneurysm ORPHA:404443
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypospadias, Cryptorchidism, Renal cyst, Furrowed tongue, High palate, Gastroesophageal reflux, V... OMIM:616975
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Congenital hepatic fibrosis, Esophag... ORPHA:93271
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bifid scrotum, Hypospadias, Dilatation of the cerebral artery, Micropenis, Aortic aneurysm OMIM:619475
Marfan Syndrome
Descending aortic dissection, Dilatation of an abdominal artery, Ascending tubular aorta aneurysm... ORPHA:558
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... ORPHA:373
Vascular Ehlers-Danlos Syndrome
Peripheral arteriovenous fistula, Hypospadias, Arterial dissection, Transient ischemic attack, Ao... ORPHA:286
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Cryptorchidism, Ascending tubular aorta aneurysm ORPHA:453499
Kyphoscoliotic Ehlers-Danlos Syndrome
Cerebral hemorrhage, Subdural hemorrhage, Antenatal intracerebral hemorrhage, Aortic aneurysm ORPHA:536545
Cerebrocostomandibular Syndrome
Anal stenosis, Cleft soft palate, Ectopic kidney, Horseshoe kidney, Renal cyst, Anteriorly placed... OMIM:117650
Congenital Heart Defects And Skeletal Malformations Syndrome
Cryptorchidism, Aortic root aneurysm, Hypospadias, Coarctation of aorta OMIM:617602
Cerebellar-Facial-Dental Syndrome
Cryptorchidism, Ascending tubular aorta aneurysm ORPHA:444072
Heterotaxy, Visceral, 12, Autosomal
Patent ductus arteriosus, Partial anomalous pulmonary venous return, Hypoplastic aortic arch, Dex... OMIM:619702
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Aganglionic megacolon, Renal hypo... ORPHA:818
Boudin-Mortier Syndrome
Aortic root aneurysm OMIM:619543
Focal Dermal Hypoplasia
Acute hepatic failure, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Horseshoe kidney, ... ORPHA:2092
Osteogenesis Imperfecta
Cerebral hemorrhage, Aortic root aneurysm, Aortic dissection, Arterial dissection, Aortic aneurysm ORPHA:666
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Patent ductus arteriosus, Thoracic aortic aneurysm OMIM:619351
Autosomal Dominant Cutis Laxa
Dilatation of the ventricular cavity, Aortic aneurysm, Peripheral pulmonary artery stenosis, Coar... ORPHA:90348
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Cryptorchidism, Hypoplastic labia minora, Absence of labia majora, Renal cyst, Anter... ORPHA:495875
Neonatal Marfan Syndrome
Ascending tubular aorta aneurysm, Aortic root aneurysm, Decreased testicular size ORPHA:284979
Arterial Tortuosity Syndrome
Carotid artery dissection, Pulmonary artery stenosis, Aortic root aneurysm, Ischemic stroke, Gene... OMIM:208050
Tuberous Sclerosis 1
Precocious puberty, Renal cyst, Renal cell carcinoma, Adenoma sebaceum, Renal angiomyolipoma OMIM:191100
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Renal cyst, Horseshoe kidney OMIM:250410
Oculocerebrorenal Syndrome Of Lowe
Glomerulopathy, Renal insufficiency, Hyperparathyroidism, Proteinuria, Malabsorption, Cryptorchid... ORPHA:534
Tuberous Sclerosis 2
Absence of renal corticomedullary differentiation, Precocious puberty, Renal cyst, Renal cell car... OMIM:613254
Spondylodysplastic Ehlers-Danlos Syndrome
Prominent scalp veins, Agenesis of pineal gland, Cryptorchidism, Ascending tubular aorta aneurysm... ORPHA:536471
Orofaciodigital Syndrome Type 1
Elevated hepatic transaminase, Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Ha... ORPHA:2750
Joubert Syndrome 21
Splenomegaly, Hyperechogenic kidneys, Renal cyst, Dysphagia OMIM:615636
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Renal dysplasia, Decreased response to growth hormone stimulation test, Renal cyst OMIM:617260
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Renal cyst OMIM:615560
Congenital Aortic Valve Stenosis
Thoracic aortic aneurysm ORPHA:3093
Fraser Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Small scrotum, Anal stenosis, Cry... ORPHA:2052
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Chronic neutropenia, Macr... ORPHA:500095
Townes-Brocks Syndrome 1
Bifid scrotum, Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Re... OMIM:107480
Laubry-Pezzi Syndrome
Dilatation of the sinus of Valsalva, Ascending tubular aorta aneurysm, Patent ductus arteriosus, ... ORPHA:99094
Cap Myopathy
Aortic root aneurysm ORPHA:171881
Trisomy 10P
Absent gallbladder, Abnormality of the kidney, Dysphagia, High palate, Multiple renal cysts, Rect... ORPHA:171929
Opitz Gbbb Syndrome
Bifid scrotum, Enlarged ovaries, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Coarctati... ORPHA:2745
Histiocytoid Cardiomyopathy
Hepatomegaly, Cleft palate, Renal cyst, Polycystic ovaries ORPHA:137675
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Exaggerated median tongue furrow, Hypospadias, Intestinal malrotation, Supernumerar... OMIM:312870
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Renal insufficiency, Hypospadias, Urethral valve, Rectoperine... ORPHA:857
Yuan-Harel-Lupski Syndrome
Aortic root aneurysm, Double outlet right ventricle OMIM:616652
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Abnormal urinary color, Renal neoplasm, Hematuria, Multiple renal cy... ORPHA:538
Phace Syndrome
Cerebral arteriovenous malformation, Coarctation of aorta, Aortic root aneurysm, Abnormal carotid... ORPHA:42775
Osteopathia Striata With Cranial Sclerosis
Multicystic kidney dysplasia, Anal stenosis, Intestinal malrotation, Cleft palate, Gastroesophage... OMIM:300373
Robinow Syndrome
Multicystic kidney dysplasia, Small scrotum, External genital hypoplasia, Cryptorchidism, Hypopla... ORPHA:97360
Cutis Laxa, Autosomal Recessive, Type Iid
Bilateral cryptorchidism, Ascending tubular aorta aneurysm, Micropenis OMIM:617403
Neuromuscular Oculoauditory Syndrome
Reduced renal corticomedullary differentiation, Multiple renal cysts OMIM:618733
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Cryptorchidism, Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of aorta, Aortic r... OMIM:617506
Genitopatellar Syndrome
Multicystic kidney dysplasia, Small scrotum, Anal stenosis, Enlarged labia minora, Cryptorchidism... OMIM:606170
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Abnormal branching pattern of the aortic arch, A... OMIM:619472
Lmna-Related Cardiocutaneous Progeria Syndrome
Intracranial hemorrhage, Aortic root aneurysm, Aortic atherosclerotic lesion, Abnormality of the ... ORPHA:363618
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Hydronephrosis, Ectopic anus, ... ORPHA:1507
Blau Syndrome
Abnormal salivary gland morphology, Large vessel vasculitis, Aortic aneurysm ORPHA:90340
Hajdu-Cheney Syndrome
Hepatomegaly, Hypospadias, Intestinal malrotation, Splenomegaly, Cleft palate, Multiple renal cysts ORPHA:955
Tetrasomy 9P
Renal dysplasia, Absent gallbladder, Recurrent urinary tract infections, Cryptorchidism, Jaundice... ORPHA:3310
Ehlers-Danlos Syndrome, Classic Type, 1
Aortic root aneurysm OMIM:130000
Marfan Syndrome
Ascending tubular aorta aneurysm, Pulmonary artery dilatation, Aortic root aneurysm, Aortic disse... OMIM:154700
Diaphragmatic Hernia 4, With Cardiovascular Defects
Aortopulmonary collateral arteries, Cryptorchidism, Aortopulmonary window, Pulmonary artery hypop... OMIM:620025
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Renal cyst OMIM:617478
Williams Syndrome
Hypoplasia of penis, Rectal prolapse, Abnormal tubulointerstitial morphology, Nephrocalcinosis, G... ORPHA:904
Contractural Arachnodactyly, Congenital
Patent ductus arteriosus, Aortic root aneurysm OMIM:121050
Classical-Like Ehlers-Danlos Syndrome Type 2
Carotid artery stenosis, Cryptorchidism, Prominent veins on trunk, Varicose veins, Aortic root an... ORPHA:536532
Kawasaki Disease
Ascending tubular aorta aneurysm, Vasculitis, Double outlet right ventricle with subpulmonary ven... ORPHA:2331
Cutis Laxa, Autosomal Recessive, Type Ib
Arterial tortuosity, Aortic root aneurysm, Generalized arterial tortuosity, Pulmonary artery aneu... OMIM:614437
Koolen-De Vries Syndrome
Cryptorchidism, Patent ductus arteriosus, Aortic root aneurysm OMIM:610443
Charge Syndrome
Bifid scrotum, Aortic arch aneurysm, Hypogonadotropic hypogonadism, Cryptorchidism, Patent ductus... ORPHA:138
Zimmermann-Laband Syndrome 1
Aortic arch aneurysm, Patent ductus arteriosus, Long penis, Aortic root aneurysm OMIM:135500
Immunodeficiency 23
Aortic root aneurysm, Vasculitis in the skin OMIM:615816
Cornelia De Lange Syndrome
Renal insufficiency, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Intestinal m... ORPHA:199
Distal Deletion 15Q
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Abnormal localization of kidney, Cleft... ORPHA:1596
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Patent ductus arteriosus, Coarctation of aorta, Ascending tubular aorta aneurysm, Transposition o... OMIM:612474
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Aortic root aneurysm ORPHA:449291
Restrictive Dermopathy
Hypospadias, Aplasia/Hypoplastia of the eccrine sweat glands, Patent ductus arteriosus, Ascending... ORPHA:1662
C Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Abnormality of the anus, ... ORPHA:1308
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic root aneurysm ORPHA:230851
Cerebrocostomandibular Syndrome
Glossoptosis, Multicystic kidney dysplasia, Short hard palate, Cleft palate ORPHA:1393
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Aortic root aneurysm, Chordee, Hypospadias OMIM:618891
Peters Plus Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Intestinal fistula, Hypospadias, Renal hypopl... ORPHA:709
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Aortic root aneurysm OMIM:615349
Marfanoid-Progeroid-Lipodystrophy Syndrome
Aortic root aneurysm OMIM:616914
Sotos Syndrome
Hypospadias, Phimosis, Cryptorchidism, Patent ductus arteriosus, Hydrocele testis, Aortic aneurysm ORPHA:821
Spondylocarpotarsal Synostosis Syndrome
Cleft palate, Renal cyst OMIM:272460
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Hydrocele testis, Aortic root aneurysm, Patent ductus arteriosus, Peripheral pulmonary artery ste... ORPHA:280633
Loeys-Dietz Syndrome 5
Aortic root aneurysm, Ascending aortic dissection OMIM:615582
Cutis Marmorata Telangiectatica Congenita
Displacement of the urethral meatus, Multicystic kidney dysplasia ORPHA:1556
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Aortic root aneurysm OMIM:245600
Turner Syndrome Due To Structural X Chromosome Anomalies
Aortic arch aneurysm, Increased circulating gonadotropin level, Coarctation of aorta, Gastrointes... ORPHA:99413
Turner Syndrome
Aortic arch aneurysm, Increased circulating gonadotropin level, Coarctation of aorta, Gastrointes... ORPHA:881
Mosaic Monosomy X
Aortic arch aneurysm, Increased circulating gonadotropin level, Coarctation of aorta, Gastrointes... ORPHA:99228
Monosomy X
Aortic arch aneurysm, Increased circulating gonadotropin level, Coarctation of aorta, Gastrointes... ORPHA:99226
Branchiooculofacial Syndrome
Renal agenesis, Hypospadias, Supernumerary nipple, Malrotation of colon, Cryptorchidism, Pyloric ... OMIM:113620
Au-Kline Syndrome
Cryptorchidism, Aortic root aneurysm, Supernumerary nipple OMIM:616580
Mowat-Wilson Syndrome
Bifid scrotum, Urinary incontinence, Asplenia, Cleft hard palate, Gastrointestinal dysmotility, V... ORPHA:2152
Hypermobile Ehlers-Danlos Syndrome
Venous insufficiency, Ascending tubular aorta aneurysm, Cystocele, Arterial dissection ORPHA:285
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic ovaries, Splenomegaly, Long penis, R... ORPHA:744
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Decreased testicular size, Micropenis, Multicystic kidney dysplasia, Hydronephrosis OMIM:615287
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Urinary incontinence, Asplenia, Cleft hard palate, Vesicoureteral reflux, Webbed p... ORPHA:261537
X Small Rings
Aortic root aneurysm ORPHA:96201
Cockayne Syndrome Type 3
Subdural hemorrhage, Aortic root aneurysm, Stroke, Vascular calcification, Premature coronary art... ORPHA:90324
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal agenesis, Aganglionic... OMIM:308205
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Urinary incontinence, Asplenia, Cleft hard palate, Vesicoureteral reflux, Webbed p... ORPHA:261552
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Aortic root aneurysm, Patent ductus arteriosus, Hypospadias, Decreased response to growth hormone... ORPHA:444077
Pallister-Killian Syndrome
Anal stenosis, Small scrotum, Hypospadias, Intestinal malrotation, Supernumerary nipple, Cryptorc... OMIM:601803
Classical Ehlers-Danlos Syndrome
Arterial dissection, Cervical insufficiency, Dilatation of the cerebral artery, Aortic root aneur... ORPHA:287
Pmm2-Cdg
Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Proteinuria, Elevated circulating g... ORPHA:79318
Chromosome 1P36 Deletion Syndrome, Distal
Abnormal external genitalia, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Aortic root a... OMIM:607872
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Cleft palate, Vesicoureteral reflux... 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 Klrb1

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 Klrb1.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Klrb1atm1a(KOMP)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Klrb1atm1a(KOMP)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Klrb1atm1a(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Klrb1atm1a(KOMP)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Klrb1atm1a(KOMP)Wtsi PMC5827107

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Klrb1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Klrb1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Klrb1tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice

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