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Gene: Bdkrb2 MGI:102845

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Not currently registered for phenotyping at IMPC

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

Gene Summary

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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... OMIM:614817
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... OMIM:602088
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... ORPHA:567544
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma... OMIM:231680
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... OMIM:161900
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Gout, Focal se... OMIM:617056
Hereditary Renal Hypouricemia
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri... ORPHA:94088
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... ORPHA:329918
Polycystic Kidney Disease 7
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... OMIM:620056
Mpdu1-Cdg
Decreased response to growth hormone stimulation test, Elevated circulating creatine kinase conce... ORPHA:79323
Bardet-Biedl Syndrome 10
Renal insufficiency, Hypogonadism, Renal cyst OMIM:615987
Renal Tubular Acidosis, Distal, 1
Impaired urinary acidification, Osteomalacia, Elevated circulating creatinine concentration, Neph... OMIM:179800
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Congenital Disorder Of Glycosylation, Type If
Flexion contracture, Renal cortical cysts OMIM:609180
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra... OMIM:614723
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... OMIM:612925
Nephronophthisis-Like Nephropathy 2
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... OMIM:619468
Coenzyme Q10 Deficiency, Primary, 8
Renal dysplasia, Flexion contracture, Elevated circulating creatinine concentration, Abnormal ren... OMIM:616733
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612926
Igg4-Related Retroperitoneal Fibrosis
Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentration, Elevated cir... ORPHA:49041
46,Xy Sex Reversal 4
Distal symphalangism, Hypergonadotropic hypogonadism, Elevated circulating creatinine concentrati... OMIM:154230
Preeclampsia
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Elevated circulating creatinine c... ORPHA:275555
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612924
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Secondary amenorrhea, Abnormal spermatogenesis, Azoospermia, Ovari... OMIM:228300
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal agenesis, External genital hypoplasia, Stage 5 chronic kidney disease,... OMIM:615993
C Syndrome
Fused sternal ossification centers, Cryptorchidism, Clitoral hypertrophy, Renal cortical cysts OMIM:211750
Hypouricemia, Renal, 1
Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub... OMIM:220150
Renal Dysplasia, Cystic, Susceptibility To
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... OMIM:601331
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Recurrent fractures, Cranio... ORPHA:251004
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Decreased activity of mitochondrial complex IV, Lacticaciduria, H... OMIM:619063
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Chronic kidney disease, ... OMIM:613845
Leydig Cell Hypoplasia
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... ORPHA:755
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Gout, Hyperuricosuri... ORPHA:79233
Nephronophthisis 20
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... OMIM:617271
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Renal salt wasting, Reduced bone mineral density, Sex reversal, Increased circulating renin level... ORPHA:168558
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic... ORPHA:730
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Renal salt wasting, Reduced bone mineral density, Sex reversal, Increased circulating renin level... ORPHA:289548
Mosaic Trisomy 1
Camptodactyly of finger, Elbow flexion contracture, Renal cortical cysts, Renal cyst, Micropenis,... ORPHA:1692
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypospadias, Cryptorchidism, Epiphyseal stippling, Aminoaciduria, Albuminuria, Elevated circulati... OMIM:214100
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate OMIM:242530
Osteopetrosis, Autosomal Recessive 9
Stage 3 chronic kidney disease, Increased bone mineral density, Hyperparathyroidism, Cortical scl... OMIM:620366
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Epiphyseal stippling, Renal cyst OMIM:614870
Bardet-Biedl Syndrome 4
External genital hypoplasia, Abnormality of the kidney, Cryptorchidism, Renal cyst, Hypogonadism OMIM:615982
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Proteinuria, Glomerulonephritis, Supernumerary nipple, Elevated circulating creatinine concentrat... OMIM:614376
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Glomerular sclerosis, Elevated circulating creatinine concentration, Abnormal renal physiology, I... OMIM:223900
Focal Segmental Glomerulosclerosis 6
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... OMIM:614131
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha-fetoprotein c... OMIM:613095
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Renal insufficiency, Hypospadias, Supernumerary nipple, Early ossification of capital femoral epi... ORPHA:397715
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Oligomeganephronia
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Glomerulomegaly, Bilateral renal hyp... ORPHA:2260
Thrombotic Thrombocytopenic Purpura
Renal insufficiency, Proteinuria, Hematuria, Decreased serum creatinine, Acute kidney injury ORPHA:54057
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Abnormality of t... OMIM:617805
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Elevated circulating creatinine concentration, Rickets, Glycosuria, Aminoacidu... OMIM:615605
Joubert Syndrome 5
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Nephr... OMIM:610188
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Hyperphosphaturia, Osteomalacia, Monostotic fibrous dysplasia, R... ORPHA:562
Peroxisome Biogenesis Disorder 5A (Zellweger)
Clitoral hypertrophy, Hypospadias, Conjugated hyperbilirubinemia, Cryptorchidism, Elevated circul... OMIM:614866
Thrombotic Thrombocytopenic Purpura, Hereditary
Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, Increased ... OMIM:274150
Drug-Induced Lupus Erythematosus
Hematuria, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive pr... ORPHA:231111
Papillorenal Syndrome
Joint laxity, Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal cort... OMIM:120330
Beckwith-Wiedemann Syndrome
Overgrowth of external genitalia, Cryptorchidism, Pancreatic hyperplasia, Nephrolithiasis, Renal ... OMIM:130650
Renal Cysts And Diabetes Syndrome
Renal cyst, Pancreatic hypoplasia, Atretic vas deferens, Hypospadias, Abnormality of the kidney, ... OMIM:137920
Nephrotic Syndrome, Type 2
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... OMIM:600995
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Spastic Paraplegia Type 7
Urinary urgency, Abnormal mitochondrial morphology ORPHA:99013
Renal Tubular Dysgenesis
Joint hyperflexibility, Proximal tubulopathy, Multiple renal cysts, Nephropathy, Renotubular dysg... ORPHA:3033
Orthostatic Hypotension 1
Reduced circulating prolactin concentration, Nocturia, Increased blood urea nitrogen, Retrograde ... OMIM:223360
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Vesicoureteral reflux, Renal cortical cysts OMIM:618548
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... OMIM:235400
Aapoaiv Amyloidosis
Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Hyperlipidem... ORPHA:439232
Senior-Loken Syndrome 1
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... OMIM:266900
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Glycos... OMIM:308990
Uremic Pruritus
Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k... ORPHA:94059
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... OMIM:618378
Combined Oxidative Phosphorylation Deficiency 34
Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Increased blood ur... OMIM:617872
Rhyns Syndrome
Osteopenia, Hypopituitarism, Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe... OMIM:617610
Cryoglobulinemia, Familial Mixed
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab... OMIM:123550
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen OMIM:620085
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Increased total bilirubin OMIM:174050
Indomethacin Embryofetopathy
Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology ORPHA:1909
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... OMIM:613092
Trichohepatoenteric Syndrome 1
Hypospadias, Increased serum iron, Hypoalbuminemia, Galactosuria, Hypermethioninemia, Abnormality... OMIM:222470
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Ureteral duplication, Renal insufficiency, Elevated circulating creatine kinase ... OMIM:608836
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Nephrolithiasis, Decreased mitochondrial number, Hypergonadotropic hypogonadism, Elevated circula... ORPHA:352447
Pauci-Immune Glomerulonephritis
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... ORPHA:93126
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia, Multinodular goiter ORPHA:2091
Fanconi Anemia, Complementation Group O
External genital hypoplasia, Cryptorchidism, Stage 5 chronic kidney disease, Renal cyst, Neonatal... OMIM:613390
Dopamine Beta-Hydroxylase Deficiency
Elevated urinary dopamine level, Elevated circulating creatinine concentration, Retrograde ejacul... ORPHA:230
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Recurrent fractures, Ectopic kidney, Cryptorchidism, Osteoporosis, Abnormality of th... ORPHA:3063
Trisomy X
Joint hyperflexibility, Multicystic kidney dysplasia, Secondary amenorrhea, Renal hypoplasia/aplasia ORPHA:3375
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Nephrotic Syndrome, Type 6
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... OMIM:614196
Thomas Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin... OMIM:300539
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Cryptorchidism, Cystic renal dysplasia, Ectopic kidney OMIM:613730
Axial Osteomalacia
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration,... OMIM:109130
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer... OMIM:603860
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... OMIM:610725
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased mitochondrial number, Mildly elevated creatine kinase ORPHA:457050
Cockayne Syndrome Type 1
Renal insufficiency, Foot joint contracture, Proteinuria, Cryptorchidism, Increased blood urea ni... ORPHA:90321
Isolated Polycystic Liver Disease
Multiple renal cysts, Increased total bilirubin ORPHA:2924
Meckel Syndrome, Type 9
Ambiguous genitalia, Multicystic kidney dysplasia OMIM:614209
Xanthinuria, Type Ii
Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin... OMIM:603592
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Joint stiffness, Renal hypoplasia/aplasia, Cryptorchidism, Multiple renal cysts, Vesicoureteral r... ORPHA:1166
Juvenile Nephropathic Cystinosis
Hyponatremia, Low-molecular-weight proteinuria, Renal insufficiency, Hypouricemia, Proteinuria, C... ORPHA:411634
Nephrotic Syndrome, Type 22
Nephrotic range proteinuria, Podocyte foot process effacement, Stage 5 chronic kidney disease, Th... OMIM:619155
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Relapsing Fever
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:91547
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... ORPHA:52901
Peroxisome Biogenesis Disorder 3A (Zellweger)
Epiphyseal stippling, Polycystic kidney dysplasia, Increased circulating very long-chain fatty ac... OMIM:614859
Renal Hypoplasia, Bilateral
Hyponatremia, Proteinuria, Cryptorchidism, Chronic kidney disease, Hyperkalemia, Renal hypoplasia... ORPHA:97362
Dna2-Related Mitochondrial Dna Deletion Syndrome
Multiple joint contractures, Elevated creatine kinase after exercise, Decreased mitochondrial number ORPHA:352470
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal insufficiency, Elevated circulating creatine kinase concentration, Renal cyst OMIM:611773
Familial Glucocorticoid Deficiency
Hyponatremia, Recurrent urinary tract infections, Renal salt wasting, Precocious puberty, Cryptor... ORPHA:361
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Neurogenic bladder, Mitochondrial hypertrophy, Decreased activity of mitochondrial complex IV, De... OMIM:500013
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S... OMIM:104200
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Glomerular sclerosis, Nephropathy, Elevated circulating creatinine concentration, Proteinuria ORPHA:247691
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Renal dysplasia ORPHA:3032
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas... OMIM:620138
Dent Disease
Elevated circulating creatine kinase concentration, Delayed epiphyseal ossification, Nephrocalcin... ORPHA:1652
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Pancreatic adenocarcinoma, Hypercalcemia, Nephrolithiasis, Papillary renal c... OMIM:145001
Genitopalatocardiac Syndrome
Gonadal dysgenesis, male, Hypospadias, Renal cyst OMIM:231060
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Dent Disease 1
Renal insufficiency, Hyperphosphaturia, Osteomalacia, Recurrent fractures, Delayed epiphyseal oss... OMIM:300009
Combined Oxidative Phosphorylation Deficiency 18
Decreased activity of mitochondrial complex I, Increased mitochondrial number, Methylmalonic acid... OMIM:615578
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... OMIM:615382
Mitochondrial Complex I Deficiency, Nuclear Type 29
Stage 5 chronic kidney disease, Lacticaciduria, Decreased activity of mitochondrial complex I, Hy... OMIM:618250
Diaphanospondylodysostosis
Abnormal vertebral segmentation and fusion, Multiple renal cysts, Absent or minimally ossified ve... ORPHA:66637
Joubert Syndrome 16
Renal cyst, Nephronophthisis OMIM:614465
Hsd10 Mitochondrial Disease
Elevated circulating tiglylglycine concentration, Abnormal mitochondrial morphology OMIM:300438
Familial Isolated Hyperparathyroidism
Osteopenia, Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Primary hyperparathyroidism, H... ORPHA:99879
Meckel Syndrome 13
Flexion contracture, Polycystic kidney dysplasia OMIM:617562
Prune Belly Syndrome
Multicystic kidney dysplasia, Renal insufficiency, Hydroureter, Recurrent urinary tract infection... ORPHA:2970
Joubert Syndrome 20
Renal cyst OMIM:614970
Diffuse Alveolar Hemorrhage
Hematuria, Elevated circulating creatinine concentration, Proteinuria ORPHA:90060
Barth Syndrome
Abnormal mitochondrial morphology ORPHA:111
Paroxysmal Nocturnal Hemoglobinuria
Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Chronic kidney disease, ... ORPHA:447
Hepatorenocardiac Degenerative Fibrosis
Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced renal corticomedulla... OMIM:619902
Multiple Myeloma
Osteopenia, Hypercalcemia, Elevated circulating creatinine concentration, Abnormality of the blad... ORPHA:29073
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Elevated circulating creatinine concentration, Decreased urine output, Hyper... ORPHA:542323
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Hepatic cysts, Stage 5 chronic kidney disease, Gout, Polycystic kidney dyspl... OMIM:618061
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Arthritis, Hyperuricemia... ORPHA:411536
Bacterial Toxic-Shock Syndrome
Renal insufficiency, Recurrent urinary tract infections, Osteomyelitis, Elevated circulating crea... ORPHA:36234
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Neonatal death, Arthrogryposis multi... OMIM:236500
Joubert Syndrome 18
Joint laxity, Camptodactyly, Renal cyst, Horseshoe kidney OMIM:614815
Distal Renal Tubular Acidosis
Hyperphosphaturia, Osteomalacia, Hypocitraturia, Rickets, Nephrolithiasis, Renal cyst, Hypercalci... ORPHA:18
Renal Coloboma Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Joint hyperflexibility, Vesi... ORPHA:1475
Goodpasture Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Glomeru... OMIM:233450
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Elevated circulating creatinine concentration, Renal cyst OMIM:617478
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... ORPHA:449395
Say Syndrome
Proximal renal tubular acidosis, Cystic renal dysplasia OMIM:181180
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Peroxisome Biogenesis Disorder 4A (Zellweger)
Epiphyseal stippling, Renal cyst, Increased circulating very long-chain fatty acid concentration OMIM:614862
Peroxisome Biogenesis Disorder 11A (Zellweger)
Multiple renal cysts, Renal cyst OMIM:614883
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis OMIM:610205
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... ORPHA:157
Joubert Syndrome 7
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis OMIM:611560
Congenital Disorder Of Glycosylation, Type Ih
Cryptorchidism, Elevated circulating creatinine concentration, Hypoalbuminemia, Camptodactyly, Ne... OMIM:608104
Nephronophthisis 1
Polyuria, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Hyposthenuria... OMIM:256100
Coach Syndrome 2
Hyperechogenic kidneys, Elevated circulating creatinine concentration OMIM:619111
Bardet-Biedl Syndrome 6
Vaginal atresia, Hypospadias, External genital hypoplasia, Renal cyst OMIM:605231
Hemorrhagic Fever-Renal Syndrome
Anuria, Proteinuria, Glomerulonephritis, Chronic kidney disease, Hyperkalemia, Elevated circulati... ORPHA:340
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, E... ORPHA:228308
Barth Syndrome
3-Methylglutaconic aciduria, Abnormal mitochondrial morphology OMIM:302060
Joubert Syndrome 35
Recurrent urinary tract infections, Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis OMIM:618161
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Renal cell carcinoma, Renal cyst OMIM:135150
Combined Oxidative Phosphorylation Deficiency 11
Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Stillbirth, Neonatal d... OMIM:614922
Dystonia-Aphonia Syndrome
Abnormal urinary odor, Abnormal mitochondrial shape ORPHA:412217
Polysyndactyly With Cardiac Malformation
Stillbirth, Hepatic cysts, Renal cyst OMIM:263630
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, A... ORPHA:93111
Congenital Disorder Of Glycosylation, Type Iit
Decreased HDL cholesterol concentration, Urinary incontinence, Pineal cyst, Decreased serum creat... OMIM:618885
Primary Hyperoxaluria Type 3
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... ORPHA:93600
Meckel Syndrome, Type 8
Ambiguous genitalia, Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:613885
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Hepatic cysts, Absence of renal corticomedullary differentiation, Pancreatic... OMIM:263200
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
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Methylmalonic acidemia, Abnormal mitochondrial shape, Hypospadias, Decreased activity of mitochon... ORPHA:17
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab... OMIM:600740
Combined Oxidative Phosphorylation Deficiency 19
Mitochondrial swelling, Lacticaciduria OMIM:615595
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Conjugated hyperbilirubinemia, Rickets, Renal cyst, Hyperbilirubinemia, Abnormal seru... ORPHA:79303
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Bardet-Biedl Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Nephrotic syndrome, Hypoplasia... ORPHA:110
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Aminoaciduria, Hypoplasia of the thymus, Abnormality of the mitochondrion, Polycy... OMIM:214110
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... OMIM:606966
Hyperuricemia, Hprt-Related
Renal insufficiency, Nephrolithiasis, Hyperuricosuria, Hyperuricemia, Podagra OMIM:300323
Hyperparathyroidism-Jaw Tumor Syndrome
Renal insufficiency, Pancreatic adenocarcinoma, Hypercalcemia, Testicular neoplasm, Renal hamarto... ORPHA:99880
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Cystic Echinococcosis
Abnormality of the testis size, Bone cyst, Renal cyst, Membranous nephropathy, Ovarian cyst, Hype... ORPHA:400
Frontotemporal Dementia With Motor Neuron Disease
Abnormal mitochondrial morphology ORPHA:275872
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Osteopenia, Ureteral stenosis, Hydroureter, Osteoporosis, Hypercalciuria, Renal cyst, Nephrocalci... OMIM:615398
Congenital Disorder Of Glycosylation, Type Ib
Proximal tubulopathy, Hypoalbuminemia, Renal cyst OMIM:602579
Meckel Syndrome, Type 10
Micropenis, Hypospadias, Renal cyst, Camptodactyly OMIM:614175
Verheij Syndrome
Joint laxity, Vertebral fusion, Renal agenesis, Renal hypoplasia, Renal cyst OMIM:615583
Parathyroid Carcinoma
Renal insufficiency, Pancreatic adenocarcinoma, Hypercalcemia, Testicular neoplasm, Renal hamarto... ORPHA:143
Bardet-Biedl Syndrome 17
Polyuria, Stage 5 chronic kidney disease, Renal cyst, Hypogonadism, Micropenis OMIM:615994
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia OMIM:617744
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia OMIM:173900
17Q12 Microdeletion Syndrome
Multicystic kidney dysplasia, Renal insufficiency, Renal hypoplasia/aplasia, Cryptorchidism, Uret... ORPHA:261265
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Elevated circulating creatinine concentration, Hemoglobinuria, Hypokalemia,... ORPHA:90038
Senior-Loken Syndrome 3
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis OMIM:606995
Harrod Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Hypospadias, Joint hyperflexibility ORPHA:2115
Distal Triplication 15Q
Abnormal external genitalia, Abnormality of the kidney, Craniosynostosis, Flexion contracture, Di... ORPHA:314588
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:91500
Mody
Elevated hemoglobin A1c, Abnormality of the kidney, Abnormal circulating C-peptide concentration,... ORPHA:552
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Cryptorchidism, Craniosynostosis, Renal cyst, Horseshoe kidney ORPHA:166035
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Fetal megacystis ORPHA:73246
Sickle Cell Anemia
Pigment gallstones, Osteomyelitis, Osteoporosis, Elevated circulating creatinine concentration, U... ORPHA:232
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration OMIM:612736
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,... ORPHA:1834
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hepatic cysts, Polycystic kidney dysplasia OMIM:600666
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... ORPHA:107
Nephronophthisis 11
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:613550
Meckel Syndrome, Type 5
Bile duct proliferation, Renal cyst OMIM:611561
3-Methylglutaconic Aciduria Type 7
Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst ORPHA:445038
Transketolase Deficiency
Secondary amenorrhea, Increased level of ribose in urine, Renal cyst, Elevated circulating ribito... ORPHA:488618
Peroxisome Biogenesis Disorder 1B
Hyperoxaluria, Renal cyst, Epiphyseal stippling OMIM:601539
Coach Syndrome 1
Unilateral renal agenesis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, ... OMIM:216360
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Pancreatic cysts, Stage 5 chronic kidney disease, Renal... OMIM:613159
Fumarase Deficiency
Increased urine succinate level, Bilateral fetal pyelectasis, Elevated urine fumaric acid level, ... OMIM:606812
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal insufficiency, Proteinuria, Pancreatic fibrosis, Conjugated hyperbilirubinemia, Pancreatic ... OMIM:208500
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Gonadal dy... ORPHA:2075
Campomelia, Cumming Type
Pancreatic cysts, Polycystic kidney dysplasia OMIM:211890
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla... ORPHA:84081
Cardiogenic Shock
Elevated circulating creatinine concentration, Oliguria ORPHA:97292
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal dysplasia, Hypoparathyroidism, Renal insufficiency, Unilateral renal agenesis, Septate vagi... ORPHA:2237
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Multicystic kidney dysplasia, Renal cyst ORPHA:2031
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Premature ovarian insufficiency, Proteinuria, Hypergonadotropic hypogonadism, Flexion... OMIM:212065
Genitopatellar Syndrome
Hip contracture, Multicystic kidney dysplasia, Small scrotum, Cryptorchidism, Knee flexion contra... ORPHA:85201
Vacterl/Vater Association
Bifid scrotum, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ec... ORPHA:887
Meckel Syndrome, Type 2
Bile duct proliferation, Renal cyst OMIM:603194
Kleefstra Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Tracheomalacia, Supernumerary nipple, Cryp... ORPHA:261494
Campomelia, Cumming Type
Abnormally ossified vertebrae, Multicystic kidney dysplasia, Multiple renal cysts, Pancreatic cysts ORPHA:1318
Familial Adenomatous Polyposis 4
Ovarian cyst, Uterine leiomyoma, Renal cyst OMIM:617100
Meckel Syndrome, Type 3
Multicystic kidney dysplasia, Bile duct proliferation OMIM:607361
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Alström Syndrome
Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali... ORPHA:64
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Abnormal internal genitalia, Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia,... ORPHA:2973
Meckel Syndrome, Type 4
Bile duct proliferation, Renal cyst OMIM:611134
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Precocious... ORPHA:369837
Bardet-Biedl Syndrome 12
Hydroureter, Hydrometrocolpos, Cystic renal dysplasia, Hypogonadism, Vaginal atresia, Hydronephrosis OMIM:615989
Meckel Syndrome, Type 6
Abnormal internal genitalia, Absent gallbladder, Renal cyst, Horseshoe kidney, Aplasia of the bla... OMIM:612284
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil... OMIM:614527
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Cryptorchidism, Multicystic kidney dysplasia, Vaginal atresia ORPHA:3301
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polycystic kidney dysplasia, Hypospadias, Renal hypoplasia, Renal cyst OMIM:614091
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Osteopenia, Increased circulating thyroglobulin level, Sagittal craniosynostosis, Pancreatic cyst... OMIM:610199
Pallister-Hall Syndrome
Renal dysplasia, Thyroid dysgenesis, Hydroureter, Decreased response to growth hormone stimulatio... OMIM:146510
Marburg Hemorrhagic Fever
Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Orchiti... ORPHA:99826
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Uterine leiomyoma, Renal cyst ORPHA:480536
Renal-Hepatic-Pancreatic Dysplasia 2
Stillbirth, Hepatic cysts, Cystic renal dysplasia, Enlarged kidney OMIM:615415
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Arthritis, Mitochondrial swelling, Mildly elevated creatine kinase ORPHA:397744
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Premature ovarian insufficiency, Elevated circulating creatine kinase ... OMIM:619518
Renal-Hepatic-Pancreatic Dysplasia 1
Renal insufficiency, Pancreatic fibrosis, Hepatic cysts, Pancreatic cysts, Stage 5 chronic kidney... OMIM:208540
Mckusick-Kaufman Syndrome
Urethral stricture, Multicystic kidney dysplasia, Tarsal synostosis, Renal hypoplasia/aplasia, Cr... ORPHA:2473
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Craniosynostosis, Renal cyst, Horseshoe kidney OMIM:250410
Mosaic Variegated Aneuploidy Syndrome 1
Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Cryptorchidism, Renal c... OMIM:257300
Yellow Fever
Renal insufficiency, Anuria, Elevated circulating creatine kinase concentration, Pancreatic hyper... ORPHA:99829
Biliary, Renal, Neurologic, And Skeletal Syndrome
Dark urine, Osteopenia, Renal insufficiency, Anterior pituitary hypoplasia, Conjugated hyperbilir... OMIM:619534
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Multiple glomerular cysts, Pancreatic cysts, Stage 5 chronic kidney... OMIM:267010
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration ORPHA:79126
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Hydroureter, Megacystis ORPHA:2241
Joubert Syndrome 2
Hypoplastic male external genitalia, Renal insufficiency, Renal cyst, Nephronophthisis OMIM:608091
Hajdu-Cheney Syndrome
Osteopenia, Joint laxity, Hypospadias, Cryptorchidism, Osteoporosis, Renal cyst, Foot acroosteoly... OMIM:102500
Muscular Dystrophy, Congenital, Megaconial Type
Mitochondrial hypertrophy, Elevated circulating creatine kinase concentration OMIM:602541
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Hydroureter, Recu... ORPHA:79404
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Cryptorchidism, Renal hypoplasia, Renal cyst, Stillbirth, Ambiguous genitalia, Unicoronal synostosis OMIM:616300
Joubert Syndrome 14
Renal cyst OMIM:614424
Cornelia De Lange Syndrome 1
Hypospadias, Proteinuria, Ectopic kidney, Cryptorchidism, Abnormal renal morphology, Elbow flexio... OMIM:122470
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Renal cyst OMIM:615560
Developmental Delay With Or Without Dysmorphic Facies And Autism
Small scrotum, Supernumerary nipple, Cryptorchidism, Renal hypoplasia, Renal cyst, Microphallus, ... OMIM:618454
Arima Syndrome
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R... OMIM:243910
Immunodeficiency 96
Multicystic kidney dysplasia OMIM:619774
Mckusick-Kaufman Syndrome
Hydroureter, Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, Rectovaginal fistula, V... OMIM:236700
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Flexion contracture of finger, Hypospadias, Unilateral renal agenesis, Ankle flexion contracture,... ORPHA:464311
D-Bifunctional Protein Deficiency
Osteopenia, Renal cyst, Bile duct proliferation, Increased circulating very long-chain fatty acid... OMIM:261515
Joubert Syndrome 39
Joint contracture of the 5th finger, Polycystic kidney dysplasia OMIM:619562
Tuberous Sclerosis 1
Precocious puberty, Renal cyst, Renal cell carcinoma, Adenoma sebaceum, Renal angiomyolipoma OMIM:191100
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Renal dysplasia, Renal cyst OMIM:617260
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Renal hypoplasia, Renal cyst, Vesicoureteral reflux, Joint contracture, Hyd... OMIM:618460
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Renal cell c... OMIM:193300
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Increased mitochondrial number, Abnormal circulating creatine kinase concentration ORPHA:263297
Alveolar Echinococcosis
Pancreatic cysts, Bone cyst, Renal cyst, Abnormal bladder morphology, Hepatic cysts ORPHA:284
15q26 overgrowth syndrome
Renal agenesis, Abnormality of the kidney, Craniosynostosis, Camptodactyly of finger, Horseshoe k... DECIPHER:81
Dyrk1A-Related Intellectual Disability Syndrome
Multiple joint contractures, Hypospadias, Anterior pituitary hypoplasia, Unilateral renal agenesi... ORPHA:464306
Fryns Syndrome
Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Hypospadias, Renal agenesis, Cryp... OMIM:229850
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Flexion contracture, Renal hypoplasia, Hypoplasia of the ovary, Azotemia, Micropenis, Decreased t... OMIM:619321
Penile Agenesis
Urethral atresia, male, Hydroureter, Cryptorchidism, Fetal pyelectasis, Bilateral renal hypoplasi... ORPHA:49
Tuberous Sclerosis 2
Absence of renal corticomedullary differentiation, Precocious puberty, Renal cyst, Renal cell car... OMIM:613254
Tuberous Sclerosis Complex
Renal insufficiency, Abnormality of the kidney, Pituitary adenoma, Chronic kidney disease, Parath... ORPHA:805
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape OMIM:610773
Joubert Syndrome 1
Nephropathy, Renal cyst OMIM:213300
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Attenuated Familial Adenomatous Polyposis
Uterine leiomyoma, Multiple renal cysts ORPHA:220460
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Ambiguous genitalia, Abnormal mitochondrial shape, Clitoral hypertrophy ORPHA:543470
Pagod Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Abnormal morphology of female internal ge... ORPHA:991
Pearson Syndrome
Hypoparathyroidism, Renal insufficiency, Proteinuria, Decreased response to growth hormone stimul... ORPHA:699
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Osteopenia, Ureteral duplication, Craniosynostosis, Pancreatic cysts, Stage 5 chronic kidney dise... OMIM:266920
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Renal cyst, Hypoalbuminemia, Hypocholesterolemia, Micropenis, Penos... OMIM:270400
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal mitochondrial shape ORPHA:485421
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Spondylocarpotarsal Synostosis Syndrome
Vertebral fusion, Block vertebrae, Tarsal synostosis, Capitate-hamate fusion, Renal cyst, Carpal ... OMIM:272460
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Renal insufficiency, Recurrent urinary tract infections, Biliary hyperplasia, Pancr... ORPHA:731
Thauvin-Robinet-Faivre Syndrome
Renal malrotation, Renal cyst, Nephroblastoma, Bifid ureter, Renal dysplasia OMIM:617107
Carney Complex
Neoplasm of the pancreas, Ovarian dermoid cyst, Pituitary growth hormone cell adenoma, Euthyroid ... ORPHA:1359
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Cryptorchidism, Hypoplastic labia minora, Absence of labia majora, Renal cyst, Absen... ORPHA:495875
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypospadias, Cryptorchidism, Renal cyst, Vesicoureteral reflux, Annular pancreas OMIM:616975
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Multicystic kidney dysplasia, Elevated circulating creatine kinase concentration, Hydronephrosis,... OMIM:615287
Floating-Harbor Syndrome
Hypospadias, Renal agenesis, Precocious puberty, Cryptorchidism, Dilatation of the renal pelvis, ... ORPHA:2044
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hip contracture, Shoulder flexion contracture, Cryptorchidism, Delayed epiphyseal ossification, F... OMIM:210710
Cerebrocostomandibular Syndrome
Calcaneal epiphyseal stippling, Ectopic kidney, Elbow flexion contracture, Horseshoe kidney, Rena... OMIM:117650
Cranioectodermal Dysplasia 2
Joint laxity, Renal insufficiency, Craniosynostosis, Renal cyst, Bile duct proliferation, Hyperbi... OMIM:613610
Joubert Syndrome 21
Hyperechogenic kidneys, Renal cyst OMIM:615636
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Abnormal pelvis bone ossification, R... ORPHA:93271
Schinzel-Giedion Syndrome
Streak ovary, Hypospadias, Nephroblastoma, Abnormality of the ureter, Nephrolithiasis, Renal cyst... ORPHA:798
Histiocytoid Cardiomyopathy
Renal cyst, Polycystic ovaries ORPHA:137675
1P36 Deletion Syndrome
Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Camptodactyly of finger, Joint stiff... ORPHA:1606
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Joint stiffness, Craniosynostosis, Enlarged polycystic o... ORPHA:744
Simpson-Golabi-Behmel Syndrome, Type 1
Hypospadias, Supernumerary nipple, Cryptorchidism, Renal cyst, Duplication of renal pelvis, Two c... OMIM:312870
Branchiooculofacial Syndrome
Renal agenesis, Hypospadias, Supernumerary nipple, Cryptorchidism, Elbow flexion contracture, Ren... OMIM:113620
Pallister-Killian Syndrome
Small scrotum, Hypospadias, Supernumerary nipple, Cryptorchidism, Flexion contracture, Renal cyst... 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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