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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
Nephronophthisis, Renal tubular cyst, Glycosuria, Elevated circulating creatinine concentration, ... OMIM:614817
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Abnormal glomerular mesangium morphology, Elevated circulating creatinine co... ORPHA:567544
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ... OMIM:602088
Nephronophthisis 9
Stage 5 chronic kidney disease, Nephronophthisis, Polyuria, Renal cortical microcysts OMIM:613824
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Elevated circulating glutaric... OMIM:231680
Renal Failure, Progressive, With Hypertension
Nephritis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal i... OMIM:161900
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Elevated circulating cre... OMIM:617056
C3 Glomerulopathy
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Elevated... ORPHA:329918
Hereditary Renal Hypouricemia
Chronic kidney disease, Hypouricemia, Acute kidney injury, Decreased glomerular filtration rate, ... ORPHA:94088
Polycystic Kidney Disease 7
Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ... OMIM:620056
Bardet-Biedl Syndrome 10
Hypogonadism, Renal cyst, Renal insufficiency OMIM:615987
Mpdu1-Cdg
Decreased response to growth hormone stimulation test, Renal cortical cysts, Elevated circulating... ORPHA:79323
Renal Tubular Acidosis, Distal, 1
Nephrocalcinosis, Osteomalacia, Pathologic fracture, Elevated circulating creatinine concentratio... OMIM:179800
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Elevated circulating creatinine concentration, Urolithiasis, Renal insufficiency, 2,8-d... OMIM:614723
Congenital Disorder Of Glycosylation, Type If
Flexion contracture, Renal cortical cysts OMIM:609180
46,Xy Sex Reversal 4
Renal dysplasia, Gonadal dysgenesis, Elevated circulating creatinine concentration, Distal sympha... OMIM:154230
Hypouricemia, Renal, 1
Hypouricemia, Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Elevated circulati... OMIM:220150
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Stage 5 chronic kidne... OMIM:612925
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Renal hypoplasia, Tubular basement membrane disintegration, E... OMIM:174000
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal insufficienc... OMIM:619468
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Flexion contracture, Abnormal renal corticomedulla... OMIM:616733
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612926
Igg4-Related Retroperitoneal Fibrosis
Varicocele, Acute kidney injury, Rheumatoid arthritis, Elevated circulating creatinine concentrat... ORPHA:49041
Bardet-Biedl Syndrome 16
Renal agenesis, Hypogonadism, External genital hypoplasia, Stage 5 chronic kidney disease, Renal ... OMIM:615993
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612924
Renal Dysplasia, Cystic, Susceptibility To
Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal... OMIM:601331
C Syndrome
Clitoral hypertrophy, Renal cortical cysts, Cryptorchidism, Fused sternal ossification centers OMIM:211750
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Renal insufficie... ORPHA:79233
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Paternal Uniparental Disomy Of Chromosome 1
Recurrent fractures, Proteinuria, Increased blood urea nitrogen, Membranoproliferative glomerulon... ORPHA:251004
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Hyperechogenic kidneys, Hypomagnesemia, Hyperuricemia, Proteinuria, Hypon... OMIM:613845
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:168558
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Abnormality of the Leydig cells, Azoospermia, Ovarian cyst, Hypogonadotropic h... OMIM:228300
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:289548
Nephronophthisis 20
Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren... OMIM:617271
Fanconi Renotubular Syndrome 3
Aminoaciduria, Rickets, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creati... OMIM:615605
Leydig Cell Hypoplasia
Male hypogonadism, Breast aplasia, Hypoplasia of the Leydig cells, Abnormal external genitalia, C... ORPHA:755
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Decreased activity of mitochondrial complex IV, Hyperglycinemia, ... OMIM:619063
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Mosaic Trisomy 1
Camptodactyly of finger, Elbow flexion contracture, Renal cortical cysts, Penile hypospadias, Kne... ORPHA:1692
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aminoaciduria, Clitoral hypertrophy, Epiphyseal stippling, Cryptorchidism, Hydronephrosis, Elevat... OMIM:214100
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Supernumerary nipple, Elevated circulating creatinine concentration, Stage 5 ch... OMIM:614376
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment
Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate OMIM:242530
Osteopetrosis, Autosomal Recessive 9
Hyperparathyroidism, Cortical sclerosis, Stage 3 chronic kidney disease, Elevated circulating cre... OMIM:620366
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Glomerular sclerosis, Increased blood urea nitroge... OMIM:223900
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst, Epiphyseal stippling, Neonatal death OMIM:614870
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Elevated circulating creatinine concentration, Stage 5 chroni... OMIM:613095
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Supernumerary nipple, Hyperechogenic kidneys, Renal cortical cysts, Renal insufficiency, Early os... ORPHA:397715
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Renal agenesis, Abnormality of the uterus, Horseshoe kidney, Vesico... OMIM:617805
Bardet-Biedl Syndrome 4
Hypogonadism, External genital hypoplasia, Cryptorchidism, Renal cyst, Abnormality of the kidney OMIM:615982
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Renal insufficiency, Hematuria, Proteinuria, Decreased serum creatinine ORPHA:54057
Focal Segmental Glomerulosclerosis 6
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Proteinuria,... OMIM:614131
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Nephrotic syndrome, Abnormal urinary electrolyte concentration, Decreased HDL choles... ORPHA:85450
Peroxisome Biogenesis Disorder 5A (Zellweger)
Clitoral hypertrophy, Elevated circulating phytanic acid concentration, Epiphyseal stippling, Cry... OMIM:614866
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Preeclampsia
Chronic kidney disease, Acute kidney injury, Elevated circulating creatinine concentration, Renal... ORPHA:275555
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas... ORPHA:2260
Joubert Syndrome 5
Nephronophthisis, Stage 5 chronic kidney disease, Renal cortical cysts, Reduced renal corticomedu... OMIM:610188
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Pancreatic hyperplasia, Overgrowth of external genitalia, Renal cortical cysts,... OMIM:130650
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Hyperlipidem... OMIM:600995
Renal Cysts And Diabetes Syndrome
Decreased numbers of nephrons, Pancreatic atrophy, Abnormality of the kidney, Hypoplasia of the u... OMIM:137920
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Elevate... OMIM:120330
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Elevated circulating creatinine concentration, Proteinuria, Increased ... OMIM:274150
Drug-Induced Lupus Erythematosus
Hematuria, Increased blood urea nitrogen, Elevated circulating C-reactive protein concentration, ... ORPHA:231111
Renal Tubular Acidosis, Proximal
Rickets, Osteomalacia, Elevated circulating creatinine concentration, Hypercalciuria, Proximal re... OMIM:179830
Aapoaiv Amyloidosis
Chronic kidney disease, Renal amyloidosis, Elevated circulating creatinine concentration, Hyperli... ORPHA:439232
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Renal cortical cysts, Vesicoureteral reflux OMIM:618548
Renal Tubular Dysgenesis
Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Joint hypermobility, Multiple renal cysts ORPHA:3033
Senior-Loken Syndrome 1
Nephronophthisis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ... OMIM:266900
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hyperlipidemia, Incre... OMIM:235400
Orthostatic Hypotension 1
Hypomagnesemia, Joint hypermobility, Increased blood urea nitrogen, Nocturia, Elevated circulatin... OMIM:223360
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... OMIM:618378
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Hypergonadotropic h... OMIM:617872
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... OMIM:308990
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Elevated circulating creatinine concentration, Proteinuria, Hematuria, Ab... OMIM:123550
Trichohepatoenteric Syndrome 1
Hypoalbuminemia, Galactosuria, Hypermethioninemia, Increased circulating iron concentration, Abno... OMIM:222470
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hyperleucinemia, Hyperammonemia, Hypervalinemia, Increased blood urea nitrogen, Hyperisoleucinemia OMIM:620085
Spastic Paraplegia Type 7
Urinary urgency, Abnormal mitochondrial morphology ORPHA:99013
Uremic Pruritus
Chronic kidney disease, Renal hypophosphatemia, Hypermagnesemia, Stage 5 chronic kidney disease, ... ORPHA:94059
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduced renal corticomedullary differenti... OMIM:617610
Hypomagnesemia 3, Renal
Chronic kidney disease, Hyperphosphatemia, Hematuria, Macroscopic hematuria, Abnormal circulating... OMIM:248250
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Increased total bilirubin OMIM:174050
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... OMIM:613092
Indomethacin Embryofetopathy
Nephropathy, Multicystic kidney dysplasia, Abnormal renal tubule morphology, Renal insufficiency ORPHA:1909
Rhyns Syndrome
Hypopituitarism, Osteopenia, Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Elevated circulating creatine kinase concentration, Decreased mitochondrial number, Hypergonadotr... ORPHA:352447
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Increased total bilirubin, Elbow flexion contracture, Elevated circulating creat... OMIM:608836
Pauci-Immune Glomerulonephritis
Acute kidney injury, Elevated circulating creatinine concentration, Decreased glomerular filtrati... ORPHA:93126
Mccune-Albright Syndrome
Precocious puberty, Renal phosphate wasting, Aneurysmal bone cyst, Increased circulating prolacti... ORPHA:562
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia, Multinodular goiter ORPHA:2091
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria, Decreased circulating renin level, Hyponatremia, Hyposthenuria, Reduced blood ure... OMIM:300539
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... OMIM:310468
Fanconi Anemia, Complementation Group O
External genital hypoplasia, Stage 5 chronic kidney disease, Cryptorchidism, Neonatal death, Hydr... OMIM:613390
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Abnormality of the Leydig cells, Cryptorchidism, Camptodactyly, Testicular atrophy, ... ORPHA:3063
Isolated Polycystic Liver Disease
Multiple renal cysts, Increased total bilirubin ORPHA:2924
Thomas Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Hyperuricemia, Renal ... OMIM:603860
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hypoalbuminemia, Stage 5 c... OMIM:614196
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... OMIM:618270
Axial Osteomalacia
Renal cyst, Osteomalacia, Increased bone mineral density, Elevated circulating creatine kinase co... OMIM:109130
Meckel Syndrome, Type 9
Multicystic kidney dysplasia, Ambiguous genitalia OMIM:614209
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Proteinuria,... OMIM:610725
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Elevated urinary dopamine level, Increased blood u... ORPHA:230
Xanthinuria, Type Ii
Hypouricemia, Increased circulating hypoxanthine concentration, Increased urinary hypoxanthine le... OMIM:603592
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ectopic kidney, Cryptorchidism, Cystic renal dysplasia, Neonatal death OMIM:613730
Cockayne Syndrome Type 1
Male hypogonadism, Foot joint contracture, Renal insufficiency, Cryptorchidism, Proteinuria, Incr... ORPHA:90321
Peroxisome Biogenesis Disorder 3A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Epiphyseal stippling, Polycystic ... OMIM:614859
Relapsing Fever
Acute kidney injury, Abnormality of the urinary system, Increased total bilirubin, Elevated circu... ORPHA:91547
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopathy, Hypouricemi... ORPHA:411634
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased mitochondrial number, Mildly elevated creatine kinase ORPHA:457050
Nephrotic Syndrome, Type 22
Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff... OMIM:619155
Alport Syndrome 3A, Autosomal Dominant
Thickened glomerular basement membrane, Nephritis, Nephrocalcinosis, Glomerular basement membrane... OMIM:104200
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Joint stiffness, Vesicoureteral reflux, Cryptorchidism, Renal hypoplasia/aplasia, Multiple renal ... ORPHA:1166
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal cyst, Renal insufficiency, Elevated circulating creatine kinase concentration OMIM:611773
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Nephropathy, Proteinuria, Elevated circulating creatinine concentration, Glomerular sclerosis ORPHA:247691
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Parathyroid carcinoma, Pancreatic adenocarcinoma, Hypercalcemia, Papillary r... OMIM:145001
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... ORPHA:97362
Genitopalatocardiac Syndrome
Renal cyst, Hypospadias, Gonadal dysgenesis, male OMIM:231060
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Myoglobinuria, Elevated circulating creatine kinas... OMIM:620138
Dent Disease
Renal phosphate wasting, Chronic kidney disease, Renal hypophosphatemia, Delayed epiphyseal ossif... ORPHA:1652
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Renal dysplasia ORPHA:3032
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Diffuse Alveolar Hemorrhage
Hematuria, Proteinuria, Elevated circulating creatinine concentration ORPHA:90060
Nephronophthisis 16
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi... OMIM:615382
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Multiple renal cysts, Abnormal vertebral segmentat... ORPHA:66637
Joubert Syndrome 16
Renal cyst, Nephronophthisis OMIM:614465
Hsd10 Mitochondrial Disease
Elevated circulating tiglylglycine concentration, Abnormal mitochondrial morphology OMIM:300438
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Decreased activity of mitochondrial complex IV, Neurogenic bladder, Decreased activity of mitocho... OMIM:500013
Dna2-Related Mitochondrial Dna Deletion Syndrome
Decreased mitochondrial number, Multiple joint contractures, Elevated creatine kinase after exercise ORPHA:352470
Meckel Syndrome 13
Flexion contracture, Polycystic kidney dysplasia OMIM:617562
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Hyperuricemia, Hyperuri... ORPHA:411536
Joubert Syndrome 20
Renal cyst OMIM:614970
Igg4-Related Kidney Disease
Chronic kidney disease, Urethritis, Hematuria, Prostatitis, Abnormality of the anterior pituitary... ORPHA:449395
Hepatorenocardiac Degenerative Fibrosis
Hyperechogenic kidneys, Reduced renal corticomedullary differentiation, Renal interstitial fibros... OMIM:619902
Mitochondrial Complex I Deficiency, Nuclear Type 29
Mitochondrial swelling, Stage 5 chronic kidney disease, Decreased activity of mitochondrial compl... OMIM:618250
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Hyperechogenic kidneys, Elevated circulating creatinine concentration, Reduced haptoglobin level,... OMIM:301110
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hyperbilirubinemia, Elevated circulating creatinine concentration, Acute kidney injury, Decreased... ORPHA:542323
Multiple Myeloma
Nephropathy, Osteopenia, Acute kidney injury, Pathologic fracture, Elevated circulating creatinin... ORPHA:29073
Combined Oxidative Phosphorylation Deficiency 18
Increased mitochondrial number, Decreased activity of mitochondrial complex I, Methylmalonic acid... OMIM:615578
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Rickets, Osteomalacia, Low-molecular-weigh... ORPHA:18
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Red-brown urine, Stage 5 chronic kidney disease... ORPHA:157
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Gout, ... OMIM:618061
Prune Belly Syndrome
Multicystic kidney dysplasia, Hydroureter, Abnormality of the uterus, Recurrent urinary tract inf... ORPHA:2970
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Recurrent urinary tract infections, Elevated circulating creatinine concentratio... ORPHA:36234
Goodpasture Syndrome
Glomerular crescent formation, Erythrocyte cylindruria, Renal insufficiency, Cylindruria, Protein... OMIM:233450
Barth Syndrome
Abnormal mitochondrial morphology ORPHA:111
Joubert Syndrome 18
Horseshoe kidney, Renal cyst, Camptodactyly, Joint hypermobility OMIM:614815
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Joint... ORPHA:1475
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Ureteral agenesis, Neonatal death, Renal cyst, Stillbirth, Arthrogryposis multi... OMIM:236500
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Decreased circulating iron concentration, Acute kidney injury, Glycosuria... ORPHA:447
Structural Heart Defects And Renal Anomalies Syndrome
Renal cyst, Elevated circulating creatinine concentration, Renal insufficiency OMIM:617478
Peroxisome Biogenesis Disorder 4A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Renal cyst, Epiphyseal stippling OMIM:614862
Renal Dysplasia
Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure... ORPHA:93108
Say Syndrome
Cystic renal dysplasia, Proximal renal tubular acidosis OMIM:181180
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Red-brown urine, Dicarboxylic aciduria, Decreas... ORPHA:228308
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Peroxisome Biogenesis Disorder 11A (Zellweger)
Renal cyst, Multiple renal cysts OMIM:614883
Alagille Syndrome 2
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Proteinuria, Renal cyst, Hematuria OMIM:610205
Nephronophthisis 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico... OMIM:604387
Bardet-Biedl Syndrome 6
Vaginal atresia, Renal cyst, External genital hypoplasia, Hypospadias OMIM:605231
Barth Syndrome
Elevated monolysocardiolipin/cardiolipin ratio, 3-Methylglutaconic aciduria, Abnormal mitochondri... OMIM:302060
Joubert Syndrome 7
Renal cyst, Stage 5 chronic kidney disease, Nephronophthisis OMIM:611560
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration, Cryptorchidism, Neonatal death, C... OMIM:608104
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Multicystic kidney dysplasia, Acute kidney injury, Absent vas deferens, Renal agenesis, Horseshoe... ORPHA:93111
Nephronophthisis 1
Nephronophthisis, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Renal... OMIM:256100
Coach Syndrome 2
Elevated circulating creatinine concentration, Hyperechogenic kidneys OMIM:619111
Congenital Disorder Of Glycosylation, Type Iit
Hypotriglyceridemia, Decreased serum creatinine, Pineal cyst, Decreased HDL cholesterol concentra... OMIM:618885
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Acute kidney injury, Oliguria, Hyperphosphatemia, Anuria, Elevated circul... ORPHA:340
Joubert Syndrome 35
Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections OMIM:618161
Meckel Syndrome, Type 8
Ambiguous genitalia, Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Renal cyst, Renal cell carcinoma OMIM:135150
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Neonatal death, Renal cyst, Stillb... OMIM:614922
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Hepatic cysts,... OMIM:263200
Congenital Bile Acid Synthesis Defect Type 2
Rickets, Hyperbilirubinemia, Dark urine, Abnormal serum bile acid concentration, Renal cyst, Conj... ORPHA:79303
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Decreased testicular size, Azoospermia, Gonadotropin deficiency, Hypogonadotro... ORPHA:52901
Polysyndactyly With Cardiac Malformation
Renal cyst, Hepatic cysts, Stillbirth OMIM:263630
Familial Glucocorticoid Deficiency
Precocious puberty, Leydig cell neoplasia, Hypernatriuria, Recurrent urinary tract infections, Az... ORPHA:361
Primary Hyperoxaluria Type 3
Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo... ORPHA:93600
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617874
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypocalciuria, Multiple small medullary renal cysts, Osteomalacia, Renal insuffi... OMIM:600740
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Clitoral hypertrophy, Joint contracture of the hand, Abnormality of the mitochondr... OMIM:214110
Hyperuricemia, Hprt-Related
Renal insufficiency, Podagra, Hyperuricemia, Nephrolithiasis, Hyperuricosuria OMIM:300323
Nephronophthisis 4
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia... OMIM:606966
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Abnormal mitochondrial shape, Abnormal renal collecting system morphology, Methylmalonic aciduria... ORPHA:17
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia OMIM:617744
Meckel Syndrome, Type 10
Micropenis, Renal cyst, Camptodactyly, Hypospadias OMIM:614175
Dystonia-Aphonia Syndrome
Abnormal mitochondrial shape, Abnormal urinary odor ORPHA:412217
Cystic Echinococcosis
Abnormality of the testis size, Hyperbilirubinemia, Hepatic cysts, Ovarian cyst, Renal cyst, Memb... ORPHA:400
Hyperparathyroidism-Jaw Tumor Syndrome
Nephrocalcinosis, Renal hamartoma, Pancreatic adenocarcinoma, Abnormal parathyroid morphology, Re... ORPHA:99880
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Renal cyst, Proximal tubulopathy OMIM:602579
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Lambdoidal craniosynostosis, Osteopenia, Nephrocalcinosis, Hydroureter, Ureteral stenosis, Renal ... OMIM:615398
Bardet-Biedl Syndrome 17
Hypogonadism, Stage 5 chronic kidney disease, Renal cyst, Polyuria, Micropenis OMIM:615994
Tubulointerstitial Nephritis And Uveitis Syndrome
Aminoaciduria, Sterile pyuria, Beta 2-microglobulinuria, Elevated circulating creatinine concentr... ORPHA:91500
Verheij Syndrome
Renal hypoplasia, Renal agenesis, Joint hypermobility, Renal cyst, Vertebral fusion OMIM:615583
Parathyroid Carcinoma
Nephrocalcinosis, Parathyroid carcinoma, Renal hamartoma, Pancreatic adenocarcinoma, Abnormal par... ORPHA:143
Intellectual Developmental Disorder, X-Linked 112
Enuresis nocturna, Enuresis, Dilatation of the renal pelvis, Horseshoe kidney, Pyelonephritis, Ve... OMIM:301111
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hypokalemia, Hyponatr... ORPHA:90038
Combined Oxidative Phosphorylation Deficiency 19
Mitochondrial swelling, Lacticaciduria OMIM:615595
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts OMIM:173900
Mody
Nephropathy, Glycosuria, Pancreatic hypoplasia, Abnormal circulating C-peptide concentration, Ren... ORPHA:552
Senior-Loken Syndrome 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Enuresis OMIM:606995
17Q12 Microdeletion Syndrome
Multicystic kidney dysplasia, Ureterocele, Renal insufficiency, Cryptorchidism, Renal hypoplasia/... ORPHA:261265
Cerebral Creatine Deficiency Syndrome 2
Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine OMIM:612736
Frontotemporal Dementia With Motor Neuron Disease
Abnormal mitochondrial morphology ORPHA:275872
Distal Triplication 15Q
Dilatation of the renal pelvis, Horseshoe kidney, Nephroblastoma, Hydronephrosis, Abnormality of ... ORPHA:314588
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Multicystic kidney dysplasia, Abnormal female external genitalia morphology, Reduce... OMIM:277000
Peroxisome Biogenesis Disorder 1B
Renal cyst, Hyperoxaluria, Epiphyseal stippling OMIM:601539
Harrod Syndrome
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Joint hypermobility ORPHA:2115
Axial Mesodermal Dysplasia Spectrum
Abnormality of the urinary system, Abnormal morphology of female internal genitalia, Abnormality ... ORPHA:1834
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Nephronophthisis, Hyperechogenic kidneys, Stage 5 chron... OMIM:613159
Bor Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction ... ORPHA:107
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hepatic cysts OMIM:600666
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Horseshoe kidney, Renal cyst, Craniosynostosis, Cryptorchidism ORPHA:166035
Meckel Syndrome, Type 5
Renal cyst, Bile duct proliferation OMIM:611561
3-Methylglutaconic Aciduria Type 7
Renal cyst, Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria ORPHA:445038
Nephronophthisis 11
Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal... OMIM:613550
Coach Syndrome 1
Unilateral renal agenesis, Nephronophthisis, Multiple small medullary renal cysts, Stage 5 chroni... OMIM:216360
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Parathyroid hypoplasia, Uterus didelphys, Septate vagina, Renal insuff... ORPHA:2237
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Nephritis, Renal insufficiency, Early ossification of capital femoral epi... OMIM:208500
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Hematuria, Hypophosphatemia, Aminoaciduria, Genera... OMIM:219800
Senior-Boichis Syndrome
Chronic kidney disease, Renal hypoplasia, Abnormal urinary electrolyte concentration, Hyperechoge... ORPHA:84081
Campomelia, Cumming Type
Pancreatic cysts, Polycystic kidney dysplasia OMIM:211890
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Cryptorchidism, Male pseudohermaphroditism, Gonadal dysgenesis, mal... ORPHA:2075
Transketolase Deficiency
Increased level of ribose in urine, Renal cyst, Elevated circulating ribitol concentration ORPHA:488618
Vacterl/Vater Association
Multicystic kidney dysplasia, Abnormality of the urethra, Renal agenesis, Bifid scrotum, Abnormal... ORPHA:887
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Osteopenia, Proximal tubulopathy, Hypocholesterolemia, Proteinuria, Renal cyst, ... OMIM:212065
Fumarase Deficiency
Aminoaciduria, Elevated urine fumaric acid level, Mitochondrial swelling, Hyperbilirubinemia, Bil... OMIM:606812
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Renal cyst, Multicystic kidney dysplasia ORPHA:2031
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Familial Adenomatous Polyposis 4
Renal cyst, Ovarian cyst, Uterine leiomyoma OMIM:617100
Campomelia, Cumming Type
Multicystic kidney dysplasia, Pancreatic cysts, Multiple renal cysts, Abnormally ossified vertebrae ORPHA:1318
Meckel Syndrome, Type 2
Renal cyst, Bile duct proliferation OMIM:603194
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Female pseudohermaphroditi... ORPHA:2973
Kleefstra Syndrome
Limitation of joint mobility, Tracheomalacia, Supernumerary nipple, Renal insufficiency, Cryptorc... ORPHA:261494
Bardet-Biedl Syndrome 12
Hydroureter, Hydrometrocolpos, Hypogonadism, Hydronephrosis, Vaginal atresia, Cystic renal dysplasia OMIM:615989
Genitopatellar Syndrome
Small scrotum, Clitoral hypertrophy, Multicystic kidney dysplasia, Cryptorchidism, Hip contractur... ORPHA:85201
Meckel Syndrome, Type 3
Multicystic kidney dysplasia, Bile duct proliferation OMIM:607361
Meckel Syndrome, Type 6
Aplasia of the bladder, Horseshoe kidney, Absent gallbladder, Hepatic cysts, Renal cyst, Abnormal... OMIM:612284
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Precocious puberty, Osteopenia, Nephrocalcinosis, Abnormality of the urinary system, Joint hyperm... ORPHA:369837
Meckel Syndrome, Type 4
Renal cyst, Bile duct proliferation OMIM:611134
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Cardiogenic Shock
Elevated circulating creatinine concentration, Oliguria ORPHA:97292
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polycystic kidney dysplasia, Renal hypoplasia, Hypospadias, Renal cyst OMIM:614091
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad... OMIM:614527
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Osteopenia, Pancreatic hypoplasia, Renal cyst, Sagittal craniosynostosis, Pancreatic cysts, Polyc... OMIM:610199
Msh3-Related Attenuated Familial Adenomatous Polyposis
Renal cyst, Ovarian dermoid cyst, Uterine leiomyoma ORPHA:480536
Tetraamelia-Multiple Malformations Syndrome
Vaginal atresia, Multicystic kidney dysplasia, Cryptorchidism, Abnormally ossified vertebrae ORPHA:3301
Alström Syndrome
Chronic kidney disease, Testicular fibrosis, Polycystic ovaries, Glomerulonephritis, Oligozoosper... ORPHA:64
Marburg Hemorrhagic Fever
Hypoalbuminemia, Elevated circulating creatinine concentration, Renal insufficiency, Hyperamylase... ORPHA:99826
Renal-Hepatic-Pancreatic Dysplasia 1
Renal dysplasia, Stage 5 chronic kidney disease, Renal insufficiency, Hepatic cysts, Ureteral atr... OMIM:208540
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatic cysts, Enlarged kidney, Cystic renal dysplasia, Stillbirth OMIM:615415
Severe Generalized Junctional Epidermolysis Bullosa
Multicystic kidney dysplasia, Hydroureter, Urinary retention, Ureterocele, Recurrent urinary trac... ORPHA:79404
Mosaic Variegated Aneuploidy Syndrome 1
Multicystic kidney dysplasia, Bifid scrotum, Cryptorchidism, Nephroblastoma, Renal cyst, Ambiguou... OMIM:257300
Joubert Syndrome 2
Renal cyst, Nephronophthisis, Hypoplastic male external genitalia, Renal insufficiency OMIM:608091
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Osteopenia, Dilatation of the renal pelvis, Hyperechogenic kidneys, Increased ci... OMIM:619534
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Horseshoe kidney, Renal cyst, Craniosynostosis OMIM:250410
Yellow Fever
Acute kidney injury, Pancreatic hyperplasia, Anuria, Elevated circulating creatinine concentratio... ORPHA:99829
Mckusick-Kaufman Syndrome
Multicystic kidney dysplasia, Hydrometrocolpos, Glandular hypospadias, Cryptorchidism, Renal hypo... ORPHA:2473
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Multiple glomerular cysts, Pancreat... OMIM:267010
Acute Interstitial Pneumonia
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentration ORPHA:79126
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Mitochondrial swelling, Mildly elevated creatine kinase, Arthritis ORPHA:397744
Pallister-Hall Syndrome
Precocious puberty, Renal hypoplasia, Hydroureter, Decreased response to growth hormone stimulati... OMIM:146510
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal hypoplasia, Unicoronal synostosis, Cryptorchidism, Renal cyst, Ambiguous genitalia, Stillbirth OMIM:616300
Joubert Syndrome 14
Renal cyst OMIM:614424
Cornelia De Lange Syndrome 1
Renal hypoplasia, Hypoplastic male external genitalia, Elbow flexion contracture, Reduced renal c... OMIM:122470
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Renal cyst OMIM:615560
Hajdu-Cheney Syndrome
Osteopenia, Hypospadias, Foot acroosteolysis, Pathologic fracture, Cryptorchidism, Joint hypermob... OMIM:102500
Immunodeficiency 96
Multicystic kidney dysplasia OMIM:619774
Developmental Delay With Or Without Dysmorphic Facies And Autism
Small scrotum, Renal hypoplasia, Microphallus, Supernumerary nipple, Vesicoureteral reflux, Crypt... OMIM:618454
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Hydroureter, Cryptorchidism, Megacystis ORPHA:2241
Arima Syndrome
Nephronophthisis, Stage 5 chronic kidney disease, Renal sodium wasting, Hematuria, Proteinuria, R... OMIM:243910
D-Bifunctional Protein Deficiency
Increased circulating very long-chain fatty acid concentration, Renal cyst, Osteopenia, Bile duct... OMIM:261515
Mckusick-Kaufman Syndrome
Hydroureter, Hydrometrocolpos, Transverse vaginal septum, Cryptorchidism, Hydronephrosis, Vaginal... OMIM:236700
Von Hippel-Lindau Syndrome
Pheochromocytoma, Multiple renal cysts, Renal cell carcinoma, Epididymal cyst, Pancreatic cysts, ... OMIM:193300
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Unilateral renal agenesis, Ankle flexion contracture, Cryptorchidism, Hydronephrosis... ORPHA:464311
Tuberous Sclerosis 1
Precocious puberty, Renal angiomyolipoma, Renal cyst, Renal cell carcinoma, Adenoma sebaceum OMIM:191100
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Renal cyst, Renal dysplasia OMIM:617260
Joubert Syndrome 39
Polycystic kidney dysplasia, Joint contracture of the 5th finger OMIM:619562
Muscular Dystrophy, Congenital, Megaconial Type
Mitochondrial hypertrophy, Elevated circulating creatine kinase concentration OMIM:602541
Alveolar Echinococcosis
Hepatic cysts, Abnormal bladder morphology, Renal cyst, Pancreatic cysts, Bone cyst ORPHA:284
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Elevated circulating creatine kinase concentration OMIM:619518
Sickle Cell Anemia
Cholelithiasis, Pigment gallstones, Elevated circulating creatinine concentration, Osteomyelitis,... ORPHA:232
Khan-Khan-Katsanis Syndrome
Renal hypoplasia, Vesicoureteral reflux, Hydronephrosis, Renal cyst, Joint contracture, Ureteral ... OMIM:618460
Tuberous Sclerosis 2
Precocious puberty, Adenoma sebaceum, Renal angiomyolipoma, Renal cyst, Renal cell carcinoma, Abs... OMIM:613254
Tuberous Sclerosis Complex
Chronic kidney disease, Pituitary adenoma, Pheochromocytoma, Stage 5 chronic kidney disease, Rena... ORPHA:805
Acrocephalopolydactylous Dysplasia
Cystic renal dysplasia, Craniosynostosis, Enlarged kidney, Pancreatic fibrosis OMIM:200995
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Renal hypoplasia, Decreased testicular size, Hypoplasia of the ovary, Micropenis, Flexion contrac... OMIM:619321
Fryns Syndrome
Hypospadias, Joint contracture of the hand, Renal agenesis, Bifid scrotum, Cryptorchidism, Hydron... OMIM:229850
15q26 overgrowth syndrome
Duplication of renal pelvis, Renal agenesis, Camptodactyly of finger, Horseshoe kidney, Vesicoure... DECIPHER:81
Dyrk1A-Related Intellectual Disability Syndrome
Unilateral renal agenesis, Breast hypoplasia, Cryptorchidism, Multiple joint contractures, Hydron... ORPHA:464306
Joubert Syndrome 1
Nephropathy, Renal cyst OMIM:213300
Penile Agenesis
Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, C... ORPHA:49
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Pagod Syndrome
Multicystic kidney dysplasia, Abnormality of the uterus, Abnormal morphology of female internal g... ORPHA:991
Pearson Syndrome
Glycosuria, Hypomagnesemia, Decreased response to growth hormone stimulation test, Renal insuffic... ORPHA:699
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Osteopenia, Acute kidney injury, Nephronophthisis, Stage 5 chronic kidney disease, Reduced renal ... OMIM:266920
Attenuated Familial Adenomatous Polyposis
Multiple renal cysts, Uterine leiomyoma ORPHA:220460
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Abnormal mitochondrial shape, Clitoral hypertrophy, Ambiguous genitalia ORPHA:543470
Smith-Lemli-Opitz Syndrome
Small scrotum, Cryptorchidism, Duplicated collecting system, Hypospadias, Precocious puberty, Ren... OMIM:270400
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Oliguria, Recurrent urinary tract infections, Reduced renal corticomedullary... ORPHA:731
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Spondylocarpotarsal Synostosis Syndrome
Block vertebrae, Carpal synostosis, Limited elbow extension, Renal cyst, Capitate-hamate fusion, ... OMIM:272460
Thauvin-Robinet-Faivre Syndrome
Renal dysplasia, Bifid ureter, Nephroblastoma, Renal cyst, Renal malrotation OMIM:617107
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape OMIM:610773
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Absent scrotum, Cryptorchidism, Renal cyst, Absence of labia majora, Hypoplastic lab... ORPHA:495875
Floating-Harbor Syndrome
Precocious puberty, Varicocele, Nephrocalcinosis, Dilatation of the renal pelvis, Renal agenesis,... ORPHA:2044
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Annular pancreas, Vesicoureteral reflux, Cryptorchidism, Renal cyst, Hypospadias OMIM:616975
Cranioectodermal Dysplasia 2
Hyperbilirubinemia, Renal insufficiency, Joint hypermobility, Renal cyst, Craniosynostosis, Bile ... OMIM:613610
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal mitochondrial shape ORPHA:485421
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Renal hypoplasia, Shoulder flexion contracture, Elbow flexion co... OMIM:210710
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Increased mitochondrial number ORPHA:263297
Schinzel-Giedion Syndrome
Annular pancreas, Abnormality of the ureter, Sclerosis of skull base, Streak ovary, Nephroblastom... ORPHA:798
Cerebrocostomandibular Syndrome
Horseshoe kidney, Elbow flexion contracture, Renal cyst, Calcaneal epiphyseal stippling, Ectopic ... OMIM:117650
Joubert Syndrome 21
Renal cyst, Hyperechogenic kidneys OMIM:615636
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Renal hypoplasia, Uterus didelphys, Abnormal pelvis bone ossification, Absent or minimally ossifi... ORPHA:93271
Histiocytoid Cardiomyopathy
Renal cyst, Polycystic ovaries ORPHA:137675
1P36 Deletion Syndrome
Annular pancreas, Camptodactyly of finger, Abnormal female external genitalia morphology, Hypogon... ORPHA:1606
Proteus Syndrome
Long penis, Thymus hyperplasia, Cranial hyperostosis, Joint stiffness, Hyperostosis, Enlarged pol... ORPHA:744
Carney Complex
Euthyroid multinodular goiter, Precocious puberty, Leydig cell neoplasia, Sertoli cell neoplasm, ... ORPHA:1359
Simpson-Golabi-Behmel Syndrome, Type 1
Duplication of renal pelvis, Supernumerary nipple, Cryptorchidism, Nephroblastoma, Hydronephrosis... OMIM:312870
Branchiooculofacial Syndrome
Renal agenesis, Supernumerary nipple, Fusion of middle ear ossicles, Elbow flexion contracture, C... OMIM:113620
Pallister-Killian Syndrome
Small scrotum, Camptodactyly of 2nd-5th fingers, Supernumerary nipple, Cryptorchidism, Aplasia of... 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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