Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
bradykinin receptor, beta 2
Synonyms:
B2,  B2R,  BK2R,  B(2),  kinin B2

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Bdkrb2 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 Bdkrb2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Idiopathic Non-Lupus Full-House Nephropathy
Abnormal glomerular mesangium morphology, Synovitis, Nephrotic syndrome, Elevated circulating cre... ORPHA:567544
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Nephronophthisis, Hematuria, Elevated circulating creatinine concen... OMIM:614817
Nephronophthisis 9
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease OMIM:613824
Nephronophthisis 2
Hyperkalemia, Chronic tubulointerstitial nephritis, Nephronophthisis, Elevated circulating creati... OMIM:602088
Multiple Acyl-Coa Dehydrogenase Deficiency
Ethylmalonic aciduria, Renal cortical cysts, Generalized aminoaciduria, Proximal tubulopathy, Neo... OMIM:231680
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Nephritis, Stage 5 chronic kidney disease, Microsc... OMIM:161900
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Renal cortical cysts, Increased serum pyruvate, Hyperalaninemia OMIM:617668
C3 Glomerulopathy
Nephrotic syndrome, Hematuria, Elevated circulating creatinine concentration, Stage 5 chronic kid... ORPHA:329918
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst, Abnormality of the kidney, Hypogonadism OMIM:615987
Hereditary Renal Hypouricemia
Hypouricemia, Uric acid urolithiasis independent of gout, Abnormal renal physiology, Hematuria, D... ORPHA:94088
Mpdu1-Cdg
Renal cortical cysts, Decreased response to growth hormone stimulation test, Elevated circulating... ORPHA:79323
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Macroscopic hematuria, Elevated circulating creatinine concentration, Dysuria, Gout, Hyperuricemi... ORPHA:79233
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Bardet-Biedl Syndrome 16
Renal agenesis, Renal dysplasia, External genital hypoplasia, Renal cyst, Hypogonadism, Renal ins... OMIM:615993
Coenzyme Q10 Deficiency, Primary, 8
Abnormal renal corticomedullary differentiation, Elevated circulating creatinine concentration, R... OMIM:616733
Peroxisome Biogenesis Disorder 5A (Zellweger)
Epiphyseal stippling, Renal cyst, Clitoral hypertrophy, Renal cortical microcysts, Camptodactyly,... OMIM:614866
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Polyuria, Periglom... OMIM:619468
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortical atrophy, De... OMIM:174000
Preeclampsia
Elevated circulating creatinine concentration, Polycystic ovaries, Acute kidney injury, Chronic k... ORPHA:275555
Tubulointerstitial Nephritis With Uveitis
Glomerulonephritis, Reversible renal failure, Acute tubulointerstitial nephritis, Elevated circul... OMIM:607665
Bardet-Biedl Syndrome 6
Hypospadias, External genital hypoplasia, Renal cyst OMIM:605231
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acut... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acut... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acut... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acut... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acut... OMIM:612926
C Syndrome
Renal cortical cysts, Cryptorchidism, Clitoral hypertrophy, Fused sternal ossification centers OMIM:211750
Igg4-Related Retroperitoneal Fibrosis
Hydronephrosis, Nephrotic syndrome, Renovascular hypertension, Membranous nephropathy, Hematuria,... ORPHA:49041
Paternal Uniparental Disomy Of Chromosome 1
Macroscopic hematuria, Hypercalcemia, Craniosynostosis, Increased blood urea nitrogen, Membranopr... ORPHA:251004
Harrod Syndrome
Hypospadias, Cryptorchidism, External genital hypoplasia, Renal cortical microcysts OMIM:601095
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... OMIM:601331
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatic cysts, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Rec... OMIM:613095
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Aplasia of the uterus, Abnormality of the Leydig cells, Elevated circulating follicle stimulating... ORPHA:168558
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Decreased activity of mitochondrial complex IV, Increased mitochondrial number, Hyperglycinemia, ... OMIM:619063
Leydig Cell Hypoplasia
Hypospadias, Hyoplasia of the Leydig cells, Aplasia of the uterus, Abnormal internal genitalia, A... ORPHA:755
Autosomal Dominant Polycystic Kidney Disease
Pancreatic cysts, Pituitary growth hormone cell adenoma, Decreased glomerular filtration rate, He... ORPHA:730
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Aplasia of the uterus, Abnormality of the Leydig cells, Elevated circulating follicle stimulating... ORPHA:289548
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypospadias, Hydronephrosis, Elevated circulating long chain fatty acid concentration, Epiphyseal... OMIM:214100
Nephronophthisis 20
Renal insufficiency, Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease OMIM:617271
Mosaic Trisomy 1
Renal cortical cysts, Renal cyst, Micropenis, Camptodactyly of finger, Knee joint hypermobility, ... ORPHA:1692
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration, Decreased glomerular filtration rate, Nephropathy OMIM:242530
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Abnormality of the Leydig cells, Hypogonadotropic hypogonadism, Microp... OMIM:228300
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Chronic tubulointerstitial nephritis, Elevated circulating creatinine concentra... OMIM:614376
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Gout, Renal cyst, Hyperuricemia, Nephropathy, Chronic kidney ... OMIM:617056
Oligomeganephronia
Bilateral renal hypoplasia, Renal tubular atrophy, Abnormal nephron morphology, Abnormality of me... ORPHA:2260
Thrombotic Thrombocytopenic Purpura
Hematuria, Decreased serum creatinine, Acute kidney injury, Proteinuria, Renal insufficiency ORPHA:54057
Hereditary Amyloidosis With Primary Renal Involvement
Renal tubular atrophy, Oligospermia, Decreased HDL cholesterol concentration, Tubulointerstitial ... ORPHA:85450
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Hydronephrosis, Renal agenesis, Renal dysplasia, Abnormality of the uterus, Mul... OMIM:617805
Renal Cysts And Diabetes Syndrome
Hypospadias, Atretic vas deferens, Pancreatic hypoplasia, Ureteropelvic junction obstruction, Uni... OMIM:137920
Bardet-Biedl Syndrome 4
External genital hypoplasia, Renal cyst, Hypogonadism, Cryptorchidism, Abnormality of the kidney OMIM:615982
Focal Segmental Glomerulosclerosis 6
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Hypoalb... OMIM:614131
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Hypospadias, Renal cortical cysts, Meningocele, Early ossification of capital femoral epiphyses, ... ORPHA:397715
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Abnormal renal physiology, Elevated circulating creatinine concentration, Glomerular sclerosis, I... OMIM:223900
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Hematuria, Elevated circulating C-reactive pr... ORPHA:231111
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Elevated circulating creatinine concentration, Hemolytic-uremic syndro... OMIM:274150
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst, Epiphyseal stippling OMIM:614870
Barth Syndrome
3-Methylglutaconic aciduria, Organic aciduria, Abnormal mitochondrial morphology OMIM:302060
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Polycystic kidney dysplasia, Stage 5 chronic kidney disease OMIM:617610
Beckwith-Wiedemann Syndrome
Renal cortical cysts, Pancreatic hyperplasia, Nephrocalcinosis, Gonadoblastoma, Nephrolithiasis, ... OMIM:130650
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbum... OMIM:615573
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Hyperlipidemia, Nephrotic syndrome, Stage 5 chronic kidney di... OMIM:600995
Focal Segmental Glomerulosclerosis 7
Renal hypoplasia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616002
Joubert Syndrome 5
Renal cortical cysts, Nephronophthisis, Impaired renal concentrating ability, Stage 5 chronic kid... OMIM:610188
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Anuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome,... OMIM:235400
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Multinodular goiter, Renal cyst OMIM:138790
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy... OMIM:308990
Renal Tubular Dysgenesis
Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts, Nephropathy, Joint hyperflexi... ORPHA:3033
Aapoaiv Amyloidosis
Hyperlipidemia, Elevated circulating creatinine concentration, Abnormal renal medulla morphology,... ORPHA:439232
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Elevated circulating creatine kinase concentration, Decreased mitochondrial number, Nephrolithias... ORPHA:352447
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Renal cortical cysts, Vesicoureteral reflux OMIM:618548
Uremic Pruritus
Hypercalcemia, Stage 5 chronic kidney disease, Increased blood urea nitrogen, Renal hypophosphate... ORPHA:94059
Rhyns Syndrome
Nephronophthisis, Multicystic kidney dysplasia, Hypopituitarism, Osteopenia ORPHA:140976
Cryoglobulinemia, Familial Mixed
Abnormal renal physiology, Hematuria, Elevated circulating creatinine concentration, Chronic kidn... OMIM:123550
Trichohepatoenteric Syndrome 1
Hypospadias, Increased serum iron, Abnormality of iron homeostasis, Renal cortical microcysts, Hy... OMIM:222470
Pauci-Immune Glomerulonephritis
Macroscopic hematuria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Elevat... ORPHA:93126
Spastic Paraplegia Type 7
Urinary urgency, Abnormal mitochondrial morphology ORPHA:99013
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Increased total bilirubin OMIM:174050
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter, Multicystic kidney dysplasia ORPHA:2091
Mccune-Albright Syndrome
Hyperphosphaturia, Macroorchidism, Renal tubular dysfunction, Goiter, Fibrous dysplasia of the bo... ORPHA:562
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cystic renal dysplasia, Ectopic kidney, Cryptorchidism, Abnormality of the kidney OMIM:613730
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Renal tubular atrophy, Renal hypoplasia, Focal segmental glomerulosclerosis, Tubulointerstitial f... OMIM:613092
Indomethacin Embryofetopathy
Multicystic kidney dysplasia, Abnormal renal tubule morphology, Renal insufficiency, Nephropathy ORPHA:1909
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Hydronephrosis, Renal cyst, Vesicoureteral reflux OMIM:618270
Fanconi Anemia, Complementation Group O
Hydronephrosis, External genital hypoplasia, Renal cyst, Stage 5 chronic kidney disease, Cryptorc... OMIM:613390
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome... OMIM:310468
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Osteomalacia, Renal cyst, Increased bone mine... OMIM:109130
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Testicular atrophy, Abnormality of the Leydig cells, Osteoporosis, Cryptorchidism, C... ORPHA:3063
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbum... OMIM:610725
Medullary cystic kidney disease 2
Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Renal ... OMIM:603860
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Hydronephrosis, Renal sarcoma, Nephrotic syndrome, Cong... OMIM:143400
Meckel Syndrome, Type 9
Multicystic kidney dysplasia, Ambiguous genitalia OMIM:614209
Juvenile Nephropathic Cystinosis
Renal Fanconi syndrome, Hyponatremia, Hypocalcemic tetany, Hypouricemia, Hypokalemia, Proximal tu... ORPHA:411634
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia, Radioulnar synostosis ORPHA:3270
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Nocturia, Elevated ... ORPHA:230
Isolated Polycystic Liver Disease
Multiple renal cysts, Increased total bilirubin ORPHA:2924
Thomas Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
Congenital Megacalycosis
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... ORPHA:93109
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephrotic syndrome, Nephropathy, Limitation of joint mobility, Cryptorchidism, Proteinuria, Abnor... ORPHA:1192
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Tubulointerstitial fibrosis, Hypoalbumine... OMIM:614196
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia, Epiphyseal stippling OMIM:614859
Cockayne Syndrome Type 1
Contractures involving the joints of the feet, Male hypogonadism, Increased blood urea nitrogen, ... ORPHA:90321
Relapsing Fever
Abnormality of the urinary system, Hematuria, Elevated circulating creatinine concentration, Incr... ORPHA:91547
Nephrotic Syndrome, Type 22
Hypoproteinemia, Nephrotic syndrome, Podocyte foot process effacement, Glomerular sclerosis, Stag... OMIM:619155
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Renal dysplasia, Neonatal death, Renal cyst, Arthrogryposis multiplex congenita... OMIM:236500
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Mildly elevated creatine kinase, Increased mitochondrial number ORPHA:457050
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated circulating creatinine concentration, Proteinuria, Glomerular sclerosis, Nephropathy ORPHA:247691
Genitopalatocardiac Syndrome
Hypospadias, Gonadal dysgenesis, male, Renal cyst OMIM:231060
Trisomy X
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Joint hyperflexibility ORPHA:3375
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia, Parathyroid carcinoma, Pancreatic adenocarcinoma, Renal cortical adenoma, Nephroli... OMIM:145001
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Renal hypoplasia/aplasia, Multiple renal cysts, Vesicoureteral reflux, Joint stiffness, Cryptorch... ORPHA:1166
Alport Syndrome 3, Autosomal Dominant
Glomerular basement membrane lamellation, Nephrotic syndrome, Nephrocalcinosis, Azotemia, Hematur... OMIM:104200
Dent Disease
Rickets, Tubulointerstitial fibrosis, Hyperuricosuria, Non-acidotic proximal tubulopathy, Renal h... ORPHA:1652
Dna2-Related Mitochondrial Dna Deletion Syndrome
Multiple joint contractures, Decreased mitochondrial number, Elevated creatine kinase after exercise ORPHA:352470
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Hypernatriuria, Decreased serum creatinine, Decreased circulating renin level OMIM:300539
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal hypoplasia, Neonatal death, Renal cyst OMIM:228940
Dent Disease 1
Hyperphosphaturia, Thin bony cortex, Aminoaciduria, Rickets, Nephrocalcinosis, Proximal tubulopat... OMIM:300009
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Arthritis, Hyperuricosuria, Renal insufficiency, Hyperuricemia, Acute kidney injury, Uric acid ne... ORPHA:411536
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Mitochondrial hypertrophy, Decreased activity of mitochondrial complex IV, Decreased activity of ... OMIM:500013
Frasier Syndrome
Ovarian gonadoblastoma, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic k... OMIM:136680
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Renal dysplasia ORPHA:3032
Igg4-Related Kidney Disease
Tubulointerstitial nephritis, Chronic kidney disease, Elevated circulating C-reactive protein con... ORPHA:449395
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydronephrosis, Elevated circulating creatine kinase concentration, Renal dysplasia, Renal cyst, ... OMIM:615287
Familial Isolated Hyperparathyroidism
Hyperphosphaturia, Hypercalcemia, Nephrocalcinosis, Hypophosphatemia, Parathyroid adenoma, Osteop... ORPHA:99879
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Diffuse Alveolar Hemorrhage
Hematuria, Proteinuria, Elevated circulating creatinine concentration ORPHA:90060
Joubert Syndrome 16
Nephronophthisis, Renal cyst OMIM:614465
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Nephronophthisis, Renal dysplasia, Craniosynostosis, Renal cyst, Stage 5 chronic kidney disease, ... OMIM:266920
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin, Abnormal mitochondrial morphology OMIM:618528
Meckel Syndrome 13
Polycystic kidney dysplasia, Flexion contracture OMIM:617562
Renal Hypoplasia
Urethral valve, Hydronephrosis, Abnormality of the ureter, Pelvic kidney, Glomerulomegaly, Abnorm... ORPHA:93101
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Decreased urine output, Hyperbilirubinemia, Elevated circulating creatinine ... ORPHA:542323
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration... ORPHA:36234
Multiple Myeloma
Hyperproteinemia, Hypercalcemia, Nephrotic syndrome, Elevated circulating creatinine concentratio... ORPHA:29073
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial complex IV, Abnormal mitochondrial morphology OMIM:618378
Meckel Syndrome, Type 10
Hypospadias, Micropenis, Renal cyst OMIM:614175
Diaphanospondylodysostosis
Abnormal vertebral segmentation and fusion, Absent or minimally ossified vertebral bodies, Multip... ORPHA:66637
Nephronophthisis 16
Nephronophthisis, Polycystic kidney dysplasia, Renal insufficiency, Enlarged kidney OMIM:615382
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal insufficiency, Hematuria, Renal cyst, Nephropathy OMIM:611773
Distal Renal Tubular Acidosis
Hyperphosphaturia, Aminoaciduria, Hypokalemia, Rickets, Nephrocalcinosis, Proximal tubulopathy, I... ORPHA:18
Verheij Syndrome
Renal hypoplasia, Renal agenesis, Renal cyst, Vertebral fusion OMIM:615583
Paroxysmal Nocturnal Hemoglobinuria
Renal Fanconi syndrome, Reduced haptoglobin level, Hemoglobinuria, Unconjugated hyperbilirubinemi... ORPHA:447
Barth Syndrome
Abnormal mitochondrial morphology ORPHA:111
Prune Belly Syndrome
Abnormality of the ureter, Congenital posterior urethral valve, Decreased testicular size, Urogen... ORPHA:2970
Goodpasture Syndrome
Macroscopic hematuria, Cylindruria, Increased blood urea nitrogen, Erythrocyte cylindruria, Glome... OMIM:233450
Joubert Syndrome 20
Renal cyst OMIM:614970
Say Syndrome
Cystic renal dysplasia, Proximal renal tubular acidosis OMIM:181180
Renal Dysplasia
Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... ORPHA:93108
Peroxisome Biogenesis Disorder 2A (Zellweger)
Elevated circulating long chain fatty acid concentration, Hypoplasia of the thymus, Joint contrac... OMIM:214110
Papillorenal Syndrome
Horseshoe kidney, Renal hypoplasia, Renal malrotation, Renal cyst, Nephrolithiasis, Stage 5 chron... OMIM:120330
Renal Coloboma Syndrome
Renal hypoplasia, Renal dysplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal ins... ORPHA:1475
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Pancreatic cysts, Hepatic cysts, Tubulointerstitial fibrosis, Renal cyst, Neonatal death, Polycys... OMIM:263200
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Elevated circulating creatinine concentration, Renal cyst OMIM:617478
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Alagille Syndrome 2
Renal hypoplasia, Renal tubular acidosis, Hematuria, Renal cyst, Proteinuria, Renal insufficiency OMIM:610205
Leigh Syndrome With Nephrotic Syndrome
Tubulointerstitial nephritis, Heavy proteinuria, Nephrotic syndrome, Renal tubular acidosis, Rena... ORPHA:255249
Hypouricemia, Renal, 1
Hypouricemia, Acute kidney injury, Renal tubular epithelial necrosis, Uric acid nephrolithiasis, ... OMIM:220150
Carnitine Palmitoyltransferase Ii Deficiency
Cystic renal dysplasia, Myoglobinuria, Tubulointerstitial nephritis, Decreased plasma free carnit... ORPHA:157
Coach Syndrome 2
Hyperechogenic kidneys, Elevated circulating creatinine concentration OMIM:619111
Peroxisome Biogenesis Disorder 11A (Zellweger)
Renal cyst, Multiple renal cysts OMIM:614883
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Hyperphosphatemia, Decreased urine output, Tubulointerstitial nephritis, Anuria, De... ORPHA:340
Nephronophthisis 1
Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst... OMIM:256100
Hsd10 Mitochondrial Disease
Abnormal mitochondrial morphology OMIM:300438
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hypospadias, Horseshoe kidney, Renal Fanconi syndrome, Renal agenesis, Aplasia/Hypoplasia of the ... ORPHA:93111
Birt-Hogg-Dube Syndrome
Renal neoplasm, Renal cell carcinoma, Renal cyst OMIM:135150
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cystic renal dysplasia, Myoglobinuria, Tubulointerstitial nephritis, Decreased plasma free carnit... ORPHA:228308
Isolated Follicle Stimulating Hormone Deficiency
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Azoospermia, Hypogonadotropic hypogo... ORPHA:52901
Joubert Syndrome 35
Recurrent urinary tract infections, Multicystic kidney dysplasia, Hydronephrosis, Renal fibrosis OMIM:618161
Polysyndactyly With Cardiac Malformation
Hepatic cysts, Renal cyst, Stillbirth OMIM:263630
Primary Hyperoxaluria Type 3
Calcium oxalate nephrolithiasis, Abnormality of urine homeostasis, Nephrocalcinosis, Hematuria, H... ORPHA:93600
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypercalcemia, Multiple small medullary renal cysts, Hypophosphatemia, Parathormone-independent i... OMIM:600740
Denys-Drash Syndrome
Ovarian gonadoblastoma, Focal segmental glomerulosclerosis, True hermaphroditism, Nephrotic syndr... OMIM:194080
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
Joubert Syndrome 7
Nephronophthisis, Renal cyst OMIM:611560
Familial Glucocorticoid Deficiency
Hyperkalemia, Hyponatremia, Testicular adrenal rest tumor, Azoospermia, Precocious puberty, Recur... ORPHA:361
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Renal tubular acidosis, Renal dysplasia, Renal cyst, Renal insufficiency OMIM:614922
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Nephrocalcinosis, Osteoporosis, Renal cyst, Osteopenia, Ureteral stenosis, Hypercalciuria OMIM:615398
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hypospadias, Ethylmalonic aciduria, Abnormal mitochondrial shape, Methylmalonic acidemia, Methylm... ORPHA:17
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Hydronephrosis, Decreased plasma free carnitine, Elevated circulating long ... OMIM:608836
Nephronophthisis 4
Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst... OMIM:606966
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Uterine leiomyoma, Nephrocalcinosis, Osteoporosis, Renal cyst, Nephrolithiasis, Hy... ORPHA:99880
Congenital Disorder Of Glycosylation, Type Ia
Nephrotic syndrome, Hypergonadotropic hypogonadism, Hypocholesterolemia, Proximal tubulopathy, Re... OMIM:212065
Congenital Bile Acid Synthesis Defect Type 2
Abnormal serum bile acid concentration, Rickets, Renal cyst, Hyperbilirubinemia, Dark urine, Conj... ORPHA:79303
Frontotemporal Dementia With Motor Neuron Disease
Abnormal mitochondrial morphology ORPHA:275872
Hyperuricemia, Hprt-Related
Nephrolithiasis, Podagra, Hyperuricemia, Hyperuricosuria, Renal insufficiency OMIM:300323
Bardet-Biedl Syndrome 17
Renal cyst, Stage 5 chronic kidney disease, Hypogonadism, Micropenis, Polyuria OMIM:615994
Peroxisome Biogenesis Disorder 4A (Zellweger)
Renal cyst, Epiphyseal stippling OMIM:614862
Dystonia-Aphonia Syndrome
Abnormal mitochondrial shape, Abnormal urinary odor ORPHA:412217
Parathyroid Carcinoma
Hypercalcemia, Parathyroid carcinoma, Uterine leiomyoma, Nephrocalcinosis, Osteoporosis, Renal cy... ORPHA:143
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Hemoglobinuria, Unconjugated hyperbilirubinemia, Hypokalemia, Anuria, Elevated circ... ORPHA:90038
Nephronophthisis 3
Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst... OMIM:604387
Bardet-Biedl Syndrome
Nephrotic syndrome, Hypoplasia of the ovary, Hypogonadism, Multicystic kidney dysplasia, Cryptorc... ORPHA:110
Cystic Echinococcosis
Bone cyst, Membranous nephropathy, Hepatic cysts, Renal cyst, Hyperbilirubinemia, Abnormality of ... ORPHA:400
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Hepatic cysts, Polycystic kidney dysplasia, Renal insufficiency OMIM:173900
Congenital Disorder Of Glycosylation, Type Iit
Pineal cyst, Decreased HDL cholesterol concentration, Decreased serum creatinine, Urinary inconti... OMIM:618885
Senior-Loken Syndrome 3
Nephronophthisis, Renal corticomedullary cysts, Stage 5 chronic kidney disease, Enuresis, Polyuria OMIM:606995
Sickle Cell Anemia
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Osteoporosis, Pig... ORPHA:232
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal lymphocytic tubulitis, Renal Fanconi syndrome, Tubulointerstitial nephritis, Aminoaciduria,... ORPHA:91500
Harrod Syndrome
Hypospadias, Multicystic kidney dysplasia, Cryptorchidism, Joint hyperflexibility ORPHA:2115
Axial Mesodermal Dysplasia Spectrum
Hydronephrosis, Abnormality of the ureter, Abnormal morphology of female internal genitalia, Abno... ORPHA:1834
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hepatic cysts OMIM:600666
Nephronophthisis 11
Renal tubular atrophy, Nephronophthisis, Renal corticomedullary cysts, Stage 5 chronic kidney dis... OMIM:613550
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hydronephrosis, Aplasia of the uterus, Hypoparathyroidism, Hypocalcemic seizures, Renal dysplasia... ORPHA:2237
Meckel Syndrome, Type 2
Meningocele, Bile duct proliferation, Renal cyst OMIM:603194
Joubert Syndrome 14
Renal cyst OMIM:614424
Hyperoxaluria, Primary, Type Ii
Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hyperoxaluria, Hematuria, Aminoaciduria, Renal... OMIM:260000
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Horseshoe kidney, Cryptorchidism, Craniosynostosis, Renal cyst ORPHA:166035
Renal-Hepatic-Pancreatic Dysplasia 2
Cystic renal dysplasia, Stillbirth, Enlarged kidney OMIM:615415
Distal Tetrasomy 15Q
Horseshoe kidney, Hydronephrosis, Abnormal external genitalia, Craniosynostosis, Polycystic kidne... ORPHA:314588
Peroxisome Biogenesis Disorder 1B
Hyperoxaluria, Renal cyst, Epiphyseal stippling OMIM:601539
Mody
Pancreatic hypoplasia, Renal cyst, Glycosuria, Elevated hemoglobin A1c, Nephropathy, Abnormal C-p... ORPHA:552
Genitopalatocardiac Syndrome
Hypospadias, Gonadal dysgenesis, male, Multicystic kidney dysplasia, Cryptorchidism, Male pseudoh... ORPHA:2075
Cardiogenic Shock
Oliguria, Elevated circulating creatinine concentration ORPHA:97292
Meckel Syndrome, Type 6
Abnormal internal genitalia, Bile duct proliferation, Renal cyst OMIM:612284
17Q12 Microdeletion Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Pancreatic aplasia, Ureterocele, Cryptorc... ORPHA:261265
Bor Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Ureteropelvic junction ob... ORPHA:107
Nephronophthisis-Like Nephropathy 1
Renal tubular atrophy, Pancreatic cysts, Nephronophthisis, Renal corticomedullary cysts, Stage 5 ... OMIM:613159
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele, Multicystic kidney dysplasia, Renal cyst ORPHA:2031
Coach Syndrome 1
Nephronophthisis, Multiple small medullary renal cysts, Renal cyst, Stage 5 chronic kidney diseas... OMIM:216360
3-Methylglutaconic Aciduria Type 7
Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst, Nephrocalcinosis ORPHA:445038
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Early ossification of capital femoral epiphyses, Pancreatic cysts, Bile duct proliferation, Nephr... OMIM:208500
Campomelia, Cumming Type
Polycystic kidney dysplasia, Pancreatic cysts OMIM:211890
Vacterl/Vater Association
Hypospadias, Hydronephrosis, Renal agenesis, Bifid scrotum, Abnormal morphology of female interna... ORPHA:887
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Hydronephrosis, Abnormal internal genitalia, Urogenital sinus anomaly, Displacement of the urethr... ORPHA:2973
Senior-Boichis Syndrome
Renal hypoplasia, Abnormal renal insterstitial morphology, Thickening of the tubular basement mem... ORPHA:84081
Spastic Paraplegia-Precocious Puberty Syndrome
Precocious puberty in males, Hyperplasia of the Leydig cells ORPHA:2826
Transketolase Deficiency
Renal cyst, Elevated circulating ribitol concentration, Increased level of ribose in urine ORPHA:488618
Genitopatellar Syndrome
Hydronephrosis, Hip contracture, Small scrotum, Arthrogryposis multiplex congenita, Knee flexion ... ORPHA:85201
Campomelia, Cumming Type
Multicystic kidney dysplasia, Abnormally ossified vertebrae, Pancreatic cysts, Multiple renal cysts ORPHA:1318
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal hypoplasia, Hydronephrosis, Laryngotracheomalacia, Renal cyst, Vesicoureteral reflux, Crypt... OMIM:618454
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Polycystic kidney dysplasia, Renal angiomyolipoma OMIM:600273
Meckel Syndrome, Type 4
Meningocele, Bile duct proliferation, Renal cyst OMIM:611134
Kleefstra Syndrome
Hypospadias, Hydronephrosis, Hypoplasia of penis, Renal cyst, Micropenis, Limitation of joint mob... ORPHA:261494
Meckel Syndrome, Type 3
Bile duct proliferation, Multicystic kidney dysplasia OMIM:607361
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalcemia, Hypoparathyroidism, Nephrocalcinosis, Abnormality of the urinary system, Congenita... ORPHA:369837
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Renal hypoplasia, Polycystic kidney dysplasia, Renal cyst OMIM:614091
Chromosome 17Q12 Deletion Syndrome
Renal hypoplasia, Hydronephrosis, Aplasia of the uterus, Urethral stenosis, Aplasia of the vagina... OMIM:614527
Msh3-Related Attenuated Familial Adenomatous Polyposis
Renal cyst, Uterine leiomyoma, Ovarian dermoid cyst ORPHA:480536
Marburg Hemorrhagic Fever
Hyperamylasemia, Hypokalemia, Elevated circulating creatine kinase concentration, Elevated circul... ORPHA:99826
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hydronephrosis, Bile duct proliferation, Elevated circulating creatinine concentration, Neonatal ... OMIM:619534
Neuromuscular Oculoauditory Syndrome
Elevated circulating creatine kinase concentration, Knee flexion contracture, Wrist flexion contr... OMIM:618733
Yellow Fever
Anuria, Elevated circulating creatine kinase concentration, Elevated circulating creatinine conce... ORPHA:99829
Alström Syndrome
Oligospermia, Hyperlipidemia, Decreased response to growth hormone stimulation test, Elevated cir... ORPHA:64
Pallister-Hall Syndrome
Renal hypoplasia, Hydronephrosis, Thyroid dysgenesis, Renal dysplasia, Neonatal death, Decreased ... OMIM:146510
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia, Cryptorchidism, Abnormally ossified vertebrae, Vaginal atresia ORPHA:3301
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic hypoplasia, Pancreatic cysts, Renal cyst, Osteopenia, Polycystic kidney dysplasia, Sag... OMIM:610199
Joubert Syndrome 2
Abnormal renal physiology, Renal cyst, Nephronophthisis, Hypoplastic male external genitalia OMIM:608091
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration ORPHA:79126
Meckel Syndrome, Type 7
Pancreatic cysts, Bile duct proliferation, Stage 5 chronic kidney disease, Multicystic kidney dys... OMIM:267010
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Elevated circulating creatine kinase concentration, Mitochondrial hypertrophy, Premature ovarian ... OMIM:619518
Renal-Hepatic-Pancreatic Dysplasia 1
Pancreatic cysts, Renal dysplasia, Hepatic cysts, Bile duct proliferation, Polycystic kidney dysp... OMIM:208540
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Mitochondrial swelling, Mildly elevated creatine kinase, Arthritis ORPHA:397744
Hajdu-Cheney Syndrome
Hypospadias, Foot acroosteolysis, Osteoporosis, Renal cyst, Pathologic fracture, Osteopenia, Cryp... OMIM:102500
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Horseshoe kidney, Craniosynostosis, Renal cyst OMIM:250410
Mckusick-Kaufman Syndrome
Tarsal synostosis, Hydronephrosis, Urogenital sinus anomaly, Multicystic kidney dysplasia, Renal ... ORPHA:2473
Severe Generalized Junctional Epidermolysis Bullosa
Ureteral obstruction, Hydronephrosis, Urinary retention, Aplasia/Hypoplasia of the bladder, Dysur... ORPHA:79404
Ventriculomegaly With Cystic Kidney Disease
Renal insufficiency, Renal corticomedullary cysts OMIM:219730
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal hypoplasia, Renal cyst, Ambiguous genitalia, Cryptorchidism, Unicoronal synostosis OMIM:616300
Microgastria-Limb Reduction Defects Association
Cystic renal dysplasia, Horseshoe kidney, Pelvic kidney, Splenogonadal fusion, Absent gallbladder... OMIM:156810
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Megacystis, Hydroureter, Cryptorchidism ORPHA:2241
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Renal dysplasia, Decreased response to growth hormone stimulation test, Renal cyst OMIM:617260
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormality of the mitochondrion ORPHA:330050
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Renal cyst OMIM:615560
Cornelia De Lange Syndrome 1
Hypospadias, Renal hypoplasia, Hypoplastic labia majora, Hypoplastic nipples, Renal cyst, Reduced... OMIM:122470
Mckusick-Kaufman Syndrome
Hydrometrocolpos, Hydronephrosis, Vesicovaginal fistula, Rectovaginal fistula, Vaginal atresia, P... OMIM:236700
Von Hippel-Lindau Syndrome
Pancreatic cysts, Renal cell carcinoma, Neoplasm of the pancreas, Papillary cystadenoma of the ep... OMIM:193300
Arima Syndrome
Renal tubular atrophy, Occipital meningocele, Nephronophthisis, Tubulointerstitial fibrosis, Rena... OMIM:243910
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Abnormality of the mitochondrion ORPHA:91130
Tuberous Sclerosis 1
Renal cell carcinoma, Adenoma sebaceum, Renal cyst, Renal angiomyolipoma, Precocious puberty OMIM:191100
Polycystic Kidney, Cataract, And Congenital Blindness
Polycystic kidney dysplasia OMIM:263100
Mosaic Variegated Aneuploidy Syndrome 1
Hypospadias, Bifid scrotum, Renal cyst, Micropenis, Ambiguous genitalia, Cryptorchidism, Nephrobl... OMIM:257300
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Ankle flexion contracture, Hydronephrosis, Pelvic kidney, Posterior pituitary hypopl... ORPHA:464311
Alveolar Echinococcosis
Bone cyst, Pancreatic cysts, Hepatic cysts, Renal cyst, Abnormality of bladder morphology ORPHA:284
D-Bifunctional Protein Deficiency
Bile duct proliferation, Renal cyst, Increased circulating very long-chain fatty acid concentrati... OMIM:261515
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Smith-Lemli-Opitz Syndrome
Hypospadias, Renal hypoplasia, Hydronephrosis, Renal agenesis, Bifid scrotum, Epiphyseal stipplin... OMIM:270400
15q26 overgrowth syndrome
Horseshoe kidney, Hydronephrosis, Renal agenesis, Abnormality of the kidney, Craniosynostosis, Jo... DECIPHER:81
Pagod Syndrome
Meningocele, Abnormal morphology of female internal genitalia, Abnormality of the uterus, Multicy... ORPHA:991
Acrocephalopolydactylous Dysplasia
Cystic renal dysplasia, Pancreatic fibrosis, Craniosynostosis, Enlarged kidney OMIM:200995
Thauvin-Robinet-Faivre Syndrome
Renal malrotation, Renal dysplasia, Renal cyst, Bifid ureter, Nephroblastoma OMIM:617107
Joubert Syndrome 21
Hyperechogenic kidneys, Renal cyst OMIM:615636
Penile Agenesis
Cystic renal dysplasia, Bilateral renal hypoplasia, Hydronephrosis, Absent penis, Urethral fistul... ORPHA:49
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Renal hypoplasia, Hypoplasia of the ovary, Micropenis, Flexion contracture, Azotemia, Decreased t... OMIM:619321
Tuberous Sclerosis Complex
Pheochromocytoma, Renal cell carcinoma, Hepatic cysts, Renal cyst, Stage 5 chronic kidney disease... ORPHA:805
Dyrk1A-Related Intellectual Disability Syndrome
Hypospadias, Hydronephrosis, Pelvic kidney, Renal cyst, Micropenis, Anterior pituitary hypoplasia... ORPHA:464306
Joubert Syndrome 39
Polycystic kidney dysplasia, Joint contracture of the 5th finger OMIM:619562
Tuberous Sclerosis 2
Renal cell carcinoma, Adenoma sebaceum, Renal cyst, Renal angiomyolipoma, Precocious puberty OMIM:613254
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hypogonadotropic hypogonadism, Abnormality of the mitochondrion, Hypergonadotropic hypogonadism, ... ORPHA:298
Joubert Syndrome 1
Renal cyst, Occipital myelomeningocele, Nephropathy OMIM:213300
Fryns Syndrome
Hypospadias, Ectopic pancreatic tissue, Ureteral duplication, Hydronephrosis, Renal agenesis, Bif... OMIM:229850
Pearson Syndrome
Hypoparathyroidism, Hypokalemia, Lacticaciduria, Decreased response to growth hormone stimulation... ORPHA:699
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Clitoral hypertrophy, Abnormal mitochondrial shape, Ambiguous genitalia ORPHA:543470
Attenuated Familial Adenomatous Polyposis
Multiple renal cysts, Uterine leiomyoma ORPHA:220460
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Renal hypoplasia, Shoulder flexion contracture, Hip contracture, Renal cyst, Stillbirth, Knee fle... OMIM:210710
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Pancreatic cysts, Stage 5 chronic kidney disease, Recurrent urinary tract infection... ORPHA:731
Autosomal Dominant Progressive External Ophthalmoplegia
Goiter, Elevated circulating creatine kinase concentration, Osteoporosis, Abnormality of the mito... ORPHA:254892
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape OMIM:610773
Cerebrocostomandibular Syndrome
Horseshoe kidney, Renal cyst, Calcaneal epiphyseal stippling, Ectopic kidney, Elbow flexion contr... OMIM:117650
Floating-Harbor Syndrome
Hypospadias, Hydronephrosis, Renal agenesis, Nephrocalcinosis, Congenital posterior urethral valv... ORPHA:2044
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Hypoplastic labia minora, Absent scrotum, Renal cyst, Cryptorchidism, Absence of lab... ORPHA:495875
Spondylocarpotarsal Synostosis Syndrome
Tarsal synostosis, Vertebral fusion, Capitate-hamate fusion, Renal cyst, Carpal synostosis, Limit... OMIM:272460
Townes-Brocks Syndrome 1
Hypospadias, Renal hypoplasia, Urethral valve, Bifid scrotum, Bifid uterus, Rectovaginal fistula,... OMIM:107480
Cranioectodermal Dysplasia 2
Bile duct proliferation, Craniosynostosis, Renal cyst, Hyperbilirubinemia, Renal insufficiency, J... OMIM:613610
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypospadias, Annular pancreas, Renal cyst, Vesicoureteral reflux, Cryptorchidism OMIM:616975
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal mitochondrial shape ORPHA:485421
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Increased mitochondrial number ORPHA:263297
Schinzel-Giedion Syndrome
Hypospadias, Hydronephrosis, Abnormality of the ureter, Streak ovary, Annular pancreas, Renal cys... ORPHA:798
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Renal hypoplasia, Hydronephrosis, Absent or minimally ossified vertebral bodies, Urethrovaginal f... ORPHA:93271
Histiocytoid Cardiomyopathy
Polycystic ovaries, Renal cyst ORPHA:137675
1P36 Deletion Syndrome
Hypospadias, Hydronephrosis, Annular pancreas, Renal cyst, Hypogonadism, Camptodactyly of finger,... ORPHA:1606
Sialuria
Joint hypermobility, Abnormality of the mitochondrion, Cholelithiasis ORPHA:3166
Proteus Syndrome
Ovarian neoplasm, Macroorchidism, Thymus hyperplasia, Long penis, Hyperostosis, Craniosynostosis,... ORPHA:744
Carney Complex
Oligospermia, Ovarian serous cystadenoma, Macroorchidism, Testicular adrenal rest tumor, Euthyroi... ORPHA:1359
Simpson-Golabi-Behmel Syndrome, Type 1
Hypospadias, Hydronephrosis, Two carpal ossification centers present at birth, Renal cyst, Crypto... OMIM:312870
Branchiooculofacial Syndrome
Hypospadias, Renal agenesis, Renal cyst, Fusion of middle ear ossicles, Cryptorchidism, Elbow fle... OMIM:113620
Pallister-Killian Syndrome
Hypospadias, Hypoplastic labia majora, Aplasia of the uterus, Camptodactyly of 2nd-5th fingers, R... OMIM:601803

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 Bdkrb2

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 Bdkrb2.

No publications found that use IMPC mice or data for Bdkrb2.

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MGI Allele Allele Type Produced
Bdkrb2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Bdkrb2tm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells
Bdkrb2tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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