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Gene: Itga3 MGI:96602

Gene Summary

Name:

integrin alpha 3

Synonyms:

VLA-3 alpha 3, alpha3-integrin

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
preweaning lethality, complete penetrance		Itga3^em1(IMPC)Mbp	HOM		Early adult	0.00

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Viewing: all phenotypes

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 Itga3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Itga3 (1 diseases)
Human diseases predicted to be associated with Itga3 (406 diseases)

The table below shows human diseases associated to Itga3 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome		Focal segmental glomerulosclerosis, Nephrotic syndrome, Decreased glomerular filtration rate, Ren...	OMIM:614748

The table below shows human diseases predicted to be associated to Itga3 by phenotypic similarity.

Disease	Matching phenotypes	Source
RCAD (renal cysts and diabetes)	Multiple renal cysts	DECIPHER:47
Polycystic Kidney Disease 7	Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ...	OMIM:620056
Bardet-Biedl Syndrome 10	Renal cyst, Renal insufficiency	OMIM:615987
Renal Tubular Dysgenesis	Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Oligohydramnios, Multiple renal cysts,...	ORPHA:3033
Renal Dysplasia, Cystic, Susceptibility To	Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal...	OMIM:601331
Bardet-Biedl Syndrome 16	Bronchiolitis, Renal agenesis, Stage 5 chronic kidney disease, Renal insufficiency, Renal cyst, R...	OMIM:615993
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Renal Hypoplasia	Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec...	ORPHA:93101
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Oligohydramnios, Polyhydramnios, Renal dysplasia, Pulmonary hypoplasia	ORPHA:3032
Nephronophthisis 20	Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren...	OMIM:617271
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Multiple small medullary renal cysts, Hyperechogenic kidneys, Oligohydramnios, Renal insufficienc...	OMIM:263200
Hypercalcemia, Infantile, 1	Nephrocalcinosis, Medullary nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Polyuria, Dehydration	OMIM:143880
Cystic Hamartoma Of Lung And Kidney	Recurrent respiratory infections, Pulmonary fibrosis, Multicystic kidney dysplasia	ORPHA:2111
Alpha-Methylacetoacetic Aciduria	Elevated urinary 2-methyl-3-hydroxybutyric acid level, Dehydration	OMIM:203750
Familial Renal Glucosuria	Nephropathy, Glycosuria, Recurrent urinary tract infections, Renal tubular dysfunction, Dehydration	ORPHA:69076
Renal Hypodysplasia/Aplasia 3	Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr...	OMIM:617805
Indomethacin Embryofetopathy	Nephropathy, Multicystic kidney dysplasia, Oligohydramnios, Renal insufficiency, Abnormal renal t...	ORPHA:1909
Peroxisome Biogenesis Disorder 6A (Zellweger)	Renal cyst, Neonatal death	OMIM:614870
Hanac Syndrome	Hematuria, Multiple renal cysts, Renal insufficiency	ORPHA:73229
Combined Malonic And Methylmalonic Aciduria	Methylmalonic aciduria, Dehydration	OMIM:614265
Thomas Syndrome	Multicystic kidney dysplasia, Oligohydramnios, Renal hypoplasia/aplasia	ORPHA:3316
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Hypercalciuria, Nephrocalcinosis, Distal renal tubular acidosis, Dehydration	OMIM:602722
Oligomeganephronia	Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas...	ORPHA:2260
Polycystic Kidney Disease 5	Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduced renal corticomedullary differenti...	OMIM:617610
Isobutyryl-Coa Dehydrogenase Deficiency	Dehydration, Dicarboxylic aciduria	ORPHA:79159
Congenital Anomalies Of Kidney And Urinary Tract 3	Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki...	OMIM:618270
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Ascites, Renal cyst	OMIM:174050
Vitamin B12-Responsive Methylmalonic Acidemia	Renal insufficiency, Dehydration	ORPHA:28
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia	ORPHA:2091
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Myoglobinuria, Dehydration, Neonatal death	OMIM:602199
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Renal hypoplasia, Ureteral agenesis, Oligohydramnios, Neonatal death, Renal cyst, Stillbirth, Ren...	OMIM:236500
Netherton Syndrome	Aminoaciduria, Emphysema, Hydronephrosis, Recurrent respiratory infections, Ectopic kidney, Dehyd...	ORPHA:634
Meckel Syndrome, Type 11	Oligohydramnios, Polycystic kidney dysplasia	OMIM:615397
Bardet-Biedl Syndrome 4	Renal cyst, Abnormality of the kidney	OMIM:615982
Congenital Megacalycosis	Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R...	ORPHA:93109
Birt-Hogg-Dube Syndrome 1	Spontaneous pneumothorax, Renal cyst, Multiple pulmonary cysts, Renal cell carcinoma, Renal neoplasm	OMIM:135150
Fanconi Anemia, Complementation Group O	Stage 5 chronic kidney disease, Death in infancy, Neonatal death, Hydronephrosis, Renal cyst, Mis...	OMIM:613390
Combined Malonic And Methylmalonic Acidemia	Methylmalonic aciduria, Dehydration, Dicarboxylic aciduria	ORPHA:289504
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Death in infancy, Ectopic kidney, Cystic renal dysplasia, Neonatal death	OMIM:613730
Nephronophthisis 14	Nephronophthisis, Polycystic kidney dysplasia	OMIM:614844
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Nephropathy, Aminoaciduria, Nephrocalcinosis, Reduced renal corticomedullary differentiation, Oli...	OMIM:208085
Central Diabetes Insipidus	Dehydration, Nocturia	ORPHA:178029
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst	OMIM:617056
Meckel Syndrome, Type 9	Multicystic kidney dysplasia	OMIM:614209
Polysyndactyly With Cardiac Malformation	Polyhydramnios, Renal cyst, Hepatic cysts, Stillbirth	OMIM:263630
Microvillus Inclusion Disease	Nephrocalcinosis, Dehydration, Abnormal renal physiology	ORPHA:2290
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Proximal tubulopathy, Death in childhood, Death in adolescence, Polyuria, Dehydration	OMIM:560000
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Renal salt wasting, Recurrent respiratory infections, Dehydration	OMIM:264350
Joubert Syndrome 16	Renal cyst, Nephronophthisis	OMIM:614465
Hepatorenocardiac Degenerative Fibrosis	Hyperechogenic kidneys, Reduced renal corticomedullary differentiation, Renal interstitial fibros...	OMIM:619902
Combined Oxidative Phosphorylation Deficiency 11	Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Death in childhood, Neonatal death...	OMIM:614922
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Multicystic kidney dysplasia	ORPHA:3270
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Death in infancy, Dehydration	OMIM:251850
Inflammatory Skin And Bowel Disease, Neonatal, 2	Polyhydramnios, Recurrent pneumonia, Dehydration, Recurrent bronchiolitis	OMIM:616069
Methylmalonyl-Coa Epimerase Deficiency	Ketonuria, Methylmalonic aciduria, Dehydration	OMIM:251120
Nephronophthisis 16	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi...	OMIM:615382
Rhyns Syndrome	Multicystic kidney dysplasia, Nephronophthisis	ORPHA:140976
Joubert Syndrome 20	Renal cyst	OMIM:614970
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Renal insufficiency, Dehydration	ORPHA:79312
Glucose-Galactose Malabsorption	Hematuria, Renal insufficiency, Dehydration, Nephrolithiasis	ORPHA:35710
Lamellar Ichthyosis	Recurrent respiratory infections, Renal insufficiency, Dehydration	ORPHA:313
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Vesicoureteral reflux, Multiple renal cysts, Abnormality of the pulmonary artery, Renal hypoplasi...	ORPHA:1166
Isolated Polycystic Liver Disease	Multiple renal cysts	ORPHA:2924
Genitopalatocardiac Syndrome	Renal cyst, Hypospadias	OMIM:231060
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
Alagille Syndrome 2	Renal hypoplasia, Peripheral pulmonary artery stenosis, Renal insufficiency, Renal tubular acidos...	OMIM:610205
Prune Belly Syndrome	Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infections, Abnormality of the...	ORPHA:2970
Nephronophthisis 2	Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Oligohydramnios, Absenc...	OMIM:602088
Vitamin B12-Unresponsive Methylmalonic Acidemia	Renal insufficiency, Dehydration	ORPHA:27
Isovaleric Acidemia	Hyperglycinuria, Elevated urinary isovalerylglycine level, Dehydration	OMIM:243500
Chronic Hiccup	Dehydration	ORPHA:396
Bartter Syndrome, Type 3	Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Increased urinary potassium, Impaired renal tu...	OMIM:607364
Diarrhea 4, Malabsorptive, Congenital	Dehydration	OMIM:610370
Lactase Deficiency, Congenital	Dehydration	OMIM:223000
Transient Neonatal Diabetes Mellitus	Abnormality of the urinary system, Dehydration, Abnormality of the kidney	ORPHA:99886
Diabetes Mellitus, Transient Neonatal, 1	Dehydration	OMIM:601410
Meckel Syndrome 13	Polycystic kidney dysplasia	OMIM:617562
Peroxisome Biogenesis Disorder 11A (Zellweger)	Renal cyst, Multiple renal cysts	OMIM:614883
Glucose/Galactose Malabsorption	Glycosuria, Hypertonic dehydration	OMIM:606824
Renal-Hepatic-Pancreatic Dysplasia 2	Abnormal lung lobation, Oligohydramnios, Hepatic cysts, Stillbirth, Enlarged kidney, Cystic renal...	OMIM:615415
Renal Dysplasia	Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Corticosterone Methyloxidase Type I Deficiency	Renal salt wasting, Dehydration	OMIM:203400
Cystinosis	Nephropathy, Aminoaciduria, Renal insufficiency, Renal tubular dysfunction, Proteinuria, Dehydration	ORPHA:213
Corticosterone Methyloxidase Type Ii Deficiency	Renal salt wasting, Dehydration	OMIM:610600
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Renal corticomedullary cyst...	OMIM:603860
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Renal tubular cyst, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, He...	OMIM:614817
Say Syndrome	Cystic renal dysplasia, Proximal renal tubular acidosis	OMIM:181180
Reticular Dysgenesis	Recurrent respiratory infections, Dehydration	ORPHA:33355
Meckel Syndrome, Type 8	Pericardial effusion, Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys	OMIM:613885
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Hematuria, Renal cyst, Renal insufficiency	OMIM:611773
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Hepati...	OMIM:618061
Renal Hypoplasia, Bilateral	Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas...	ORPHA:97362
Renal Coloboma Syndrome	Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Renal...	ORPHA:1475
Diaphanospondylodysostosis	Multiple renal cysts	ORPHA:66637
Severe Generalized Junctional Epidermolysis Bullosa	Pneumonia, Multicystic kidney dysplasia, Hydroureter, Ureterocele, Urinary retention, Recurrent u...	ORPHA:79404
Distal Renal Tubular Acidosis	Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Decrease...	ORPHA:18
Carnitine Deficiency, Systemic Primary	Dehydration, Dicarboxylic aciduria	OMIM:212140
Joubert Syndrome 18	Horseshoe kidney, Renal cyst	OMIM:614815
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Aortic root aneurysm, Abnormal urinary electrolyte concentration, Recurre...	ORPHA:730
Cerebrooculofacioskeletal Syndrome 1	Recurrent pneumonia, Death in childhood, Dehydration	OMIM:214150
Joubert Syndrome 7	Renal cyst, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:611560
Campomelia, Cumming Type	Pancreatic cysts, Polycystic kidney dysplasia, Lymphedema	OMIM:211890
Nephronophthisis 9	Stage 5 chronic kidney disease, Nephronophthisis, Polyuria, Renal cortical microcysts	OMIM:613824
Congenital Disorder Of Glycosylation, Type Ib	Renal cyst, Proximal tubulopathy, Death in childhood, Edema	OMIM:602579
Peroxisome Biogenesis Disorder 3A (Zellweger)	Polycystic kidney dysplasia	OMIM:614859
Axial Mesodermal Dysplasia Spectrum	Abnormality of the urinary system, Abnormality of the ureter, Oligohydramnios, Renal hypoplasia/a...	ORPHA:1834
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Hypertonic dehydration, Polyuria, Megacystis	OMIM:125800
Axial Osteomalacia	Renal cyst	OMIM:109130
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Hypertonic dehydration, Polyuria, Megacystis	OMIM:304800
Cholera	Acute kidney injury, Aspiration pneumonia, Decreased urine output, Abnormality of renal excretion...	ORPHA:173
Propionic Acidemia	Hyperglycinuria, Increased level of hippuric acid in urine, Dehydration	OMIM:606054
Hyperparathyroidism 2 With Jaw Tumors	Papillary renal cell carcinoma, Nephroblastoma, Nephrolithiasis, Polycystic kidney dysplasia, Ren...	OMIM:145001
Joubert Syndrome 35	Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections	OMIM:618161
Campomelia, Cumming Type	Multicystic kidney dysplasia, Lymphedema, Oligohydramnios, Death in infancy, Multiple renal cysts...	ORPHA:1318
Early-Onset Familial Hypoaldosteronism	Dehydration, Renal sodium wasting	ORPHA:556030
Gillessen-Kaesbach-Nishimura Syndrome	Abnormal lung lobation, Oligohydramnios, Polyhydramnios, Polycystic kidney dysplasia, Pulmonary h...	OMIM:263210
Multiple Acyl-Coa Dehydrogenase Deficiency	Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Glycosuria, Renal cortical cy...	OMIM:231680
Papillorenal Syndrome	Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Stage 5...	OMIM:120330
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Methylmalonic aciduria, Dehydration	OMIM:251000
Hyperoxaluria, Primary, Type I	Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Elevated urinary glycolic acid l...	OMIM:259900
Bardet-Biedl Syndrome 6	Renal cyst, Hypospadias	OMIM:605231
Combined Oxidative Phosphorylation Deficiency 47	Dehydration	OMIM:618958
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Renal hypoplasia, Ascites, Renal cyst, Polycystic kidney dysplasia, Hydrops fetalis, Hypospadias,...	OMIM:614091
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	3-Methylglutaric aciduria, Glutaric aciduria, Ketonuria, Elevated urinary 3-methylcrotonylglycine...	OMIM:246450
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Polycystic kidney dysplasia, Hepatic cysts	OMIM:600666
Peroxisome Biogenesis Disorder 4A (Zellweger)	Renal cyst, Death in infancy	OMIM:614862
Odontochondrodysplasia 1	Nephronophthisis, Death in infancy, Recurrent respiratory infections, Polycystic kidney dysplasia...	OMIM:184260
Nephrogenic Diabetes Insipidus	Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Hypernatremic dehydration,...	ORPHA:223
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts	OMIM:173900
3-Methylglutaconic Aciduria, Type Viib	Polyhydramnios, Recurrent pneumonia, Dehydration, 3-Methylglutaconic aciduria	OMIM:616271
Primary Fanconi Renotubular Syndrome	Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Glycosuria, Low-molec...	ORPHA:3337
Trisomy X	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3375
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Ketonuria, Dehydration	OMIM:615453
Adrenal Hypoplasia, Congenital	Renal salt wasting, Dehydration	OMIM:300200
Autosomal Agammaglobulinemia	Recurrent respiratory infections, Bronchiectasis, Dehydration	ORPHA:33110
Wolcott-Rallison Syndrome	Chronic kidney disease, Renal insufficiency, Dehydration, Ascites	ORPHA:1667
Bartter Syndrome Type 4	Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Stage 5 chronic kidney disease, In...	ORPHA:89938
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Proximal Renal Tubular Acidosis	Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypernatriuria, Low-molecular-weight proteinuria, Bi...	ORPHA:47159
Cystic Echinococcosis	Pulmonary cyst, Hepatic cysts, Ovarian cyst, Abnormal subpleural morphology, Renal cyst, Multiple...	ORPHA:400
3-Methylglutaconic Aciduria Type 7	Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst, Pneumothorax	ORPHA:445038
Diaphanospondylodysostosis	Nephrogenic rest, Horseshoe kidney, Nephroblastomatosis, Oligohydramnios, Increased nuchal transl...	OMIM:608022
Meckel Syndrome, Type 6	Aplasia of the bladder, Horseshoe kidney, Hepatic cysts, Renal cyst, Bilobed right lung, Pulmonar...	OMIM:612284
Verheij Syndrome	Renal cyst, Renal hypoplasia, Renal agenesis	OMIM:615583
Nephronophthisis 3	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico...	OMIM:604387
Meckel Syndrome, Type 10	Micropenis, Renal cyst, Hypospadias	OMIM:614175
Arthrogryposis Multiplex Congenita 6	Death in childhood, Death in infancy, Neonatal death, Polyhydramnios, Hypospadias	OMIM:619334
Shigellosis	Pneumonia, Acute kidney injury, Urethritis, Dehydration, Hemolytic-uremic syndrome	ORPHA:810
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Oligohydramnios, Displacem...	ORPHA:2973
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Recurrent urinary tract infections, Stage 5 chronic kidney disease, Renal insufficiency, Hepatic ...	OMIM:613095
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Impaired renal uric acid clearance, Renal hypoplasia, Tubular basement membrane disintegration, D...	OMIM:174000
Nephronophthisis 1	Nephronophthisis, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Renal...	OMIM:256100
Trisomy 13	Abnormal lung lobation, Abnormality of the ureter, Displacement of the urethral meatus, Hydroneph...	ORPHA:3378
Renal-Hepatic-Pancreatic Dysplasia 1	Renal dysplasia, Stage 5 chronic kidney disease, Renal insufficiency, Hepatic cysts, Oligohydramn...	OMIM:208540
Harlequin Ichthyosis	Recurrent respiratory infections, Dehydration	ORPHA:457
Meckel Syndrome, Type 5	Renal cyst	OMIM:611561
Peutz-Jeghers Syndrome	Nasal polyposis, Abnormality of the ureter, Enlarged polycystic ovaries, Multiple renal cysts, Re...	ORPHA:2869
Methylmalonic Aciduria, Cbla Type	Ketonuria, Methylmalonic aciduria, Elevated urine 3-hydroxypropionic acid level, Elevated urine 2...	OMIM:251100
Nephronophthisis 4	Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia...	OMIM:606966
Familial Cold Urticaria	Dehydration	ORPHA:47045
Bartter Syndrome, Type 1, Antenatal	Nephrocalcinosis, Hyperchloriduria, Renal juxtaglomerular cell hypertrophy/hyperplasia, Increased...	OMIM:601678
Osteootohepatoenteric Syndrome	Grade II vesicoureteral reflux, Proteinuria, Dehydration	OMIM:619377
Structural Heart Defects And Renal Anomalies Syndrome	Generalized edema, Renal insufficiency, Death in infancy, Renal cyst, Partial anomalous pulmonary...	OMIM:617478
Bardet-Biedl Syndrome 17	Micropenis, Renal cyst, Stage 5 chronic kidney disease, Polyuria	OMIM:615994
Lymphangioleiomyomatosis	Chylothorax, Atelectasis, Abnormal urinary color, Emphysema, Lymphedema, Ascites, Pulmonary lymph...	ORPHA:538
Coach Syndrome 1	Unilateral renal agenesis, Nephronophthisis, Multiple small medullary renal cysts, Stage 5 chroni...	OMIM:216360
Bor Syndrome	Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction ...	ORPHA:107
Immunodeficiency 96	Recurrent lower respiratory tract infections, Multicystic kidney dysplasia	OMIM:619774
Juvenile Nephropathic Cystinosis	Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopathy, Glycosuria,...	ORPHA:411634
Beta-Ketothiolase Deficiency	Ketonuria, Dehydration, Edema	ORPHA:134
Enteric Anendocrinosis	Dehydration	ORPHA:83620
Myotubular Myopathy With Abnormal Genital Development	Atelectasis, Glandular hypospadias, Polyhydramnios, Penile hypospadias, Death in infancy, Neonata...	OMIM:300219
Vacterl/Vater Association	Multicystic kidney dysplasia, Abnormality of the urethra, Renal agenesis, Hydronephrosis, Ectopic...	ORPHA:887
Congenital Disorder Of Glycosylation, Type Il	Ascites, Pericardial effusion, Hydrops fetalis, Polycystic kidney dysplasia	OMIM:608776
Femoral-Facial Syndrome	Abnormal localization of kidney, Long penis, Polycystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:1988
Multicystic Dysplastic Kidney	Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Oligohydr...	ORPHA:1851
Methylmalonic Aciduria, Cblb Type	Ketonuria, Methylmalonic aciduria, Dehydration	OMIM:251110
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Renal cyst, Multicystic kidney dysplasia	ORPHA:2031
Infantile Nephropathic Cystinosis	Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal tubular dys...	ORPHA:411629
Mosaic Trisomy 1	Renal cortical cysts, Increased nuchal translucency, Penile hypospadias, Polyhydramnios, Renal cy...	ORPHA:1692
Radio-Renal Syndrome	Multicystic kidney dysplasia, Chylothorax, Renal agenesis, Pleural effusion, Renal hypoplasia/apl...	ORPHA:3015
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Renal salt wasting, Penoscrotal hypospadias, Hypospadias, Dehydration	ORPHA:90791
Dopamine Beta-Hydroxylase Deficiency	Elevated urinary dopamine level, Dehydration, Nocturia	ORPHA:230
Congenital Enterocyte Heparan Sulfate Deficiency	Dehydration, Edema	ORPHA:103910
17Q12 Microdeletion Syndrome	Multicystic kidney dysplasia, Ureterocele, Oligohydramnios, Renal insufficiency, Renal hypoplasia...	ORPHA:261265
Renal Cysts And Diabetes Syndrome	Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Stage 5 chronic kidney disease, Ureterop...	OMIM:137920
Nabais Sa-De Vries Syndrome, Type 2	Polyhydramnios, Multicystic kidney dysplasia	OMIM:618829
Familial Adenomatous Polyposis 4	Renal cyst, Ovarian cyst	OMIM:617100
Bartter Syndrome, Type 2, Antenatal	Nephrocalcinosis, Hyperchloriduria, Renal juxtaglomerular cell hypertrophy/hyperplasia, Increased...	OMIM:241200
Oculocerebrorenal Syndrome Of Lowe	Aminoaciduria, Nephrocalcinosis, Oligosacchariduria, Atelectasis, Renal insufficiency, Joint swel...	ORPHA:534
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Multicystic kidney dysplasia, Hydroureter, Megacystis, Death in infancy, Polyhydramnios	ORPHA:2241
Tetraamelia-Multiple Malformations Syndrome	Polyhydramnios, Multicystic kidney dysplasia, Aplasia/Hypoplasia of the lungs, Abnormal lung loba...	ORPHA:3301
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Nephrocalcinosis, Hydroureter, Ureteral stenosis, Renal cyst, Hypercalciuria	OMIM:615398
Meckel Syndrome, Type 2	Renal cyst	OMIM:603194
Trisomy 1Q	Multicystic kidney dysplasia, Increased nuchal translucency, Hydronephrosis, Polyhydramnios, Cong...	ORPHA:261344
Cystinosis, Nephropathic	Aminoaciduria, Generalized aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Medullary...	OMIM:219800
Distal Triplication 15Q	Dilatation of the renal pelvis, Horseshoe kidney, Nephroblastoma, Hydronephrosis, Abnormality of ...	ORPHA:314588
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Neonatal death, Hydronephrosis, Urethral atresia, Polyhydramnios, Enlarged kidney, Pulmonary hypo...	OMIM:314390
Acrocephalopolydactylous Dysplasia	Ascites, Extrapulmonary lobar sequestration, Enlarged kidney, Cystic renal dysplasia, Pulmonary h...	OMIM:200995
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydroureter, Neonatal death, Hydronephrosis, Polyhydramnios, Fetal megacystis	OMIM:619362
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Chronic kidney disease, Nephritis, Renal insufficiency, Death in infancy, Proteinuria, Renal cyst...	OMIM:208500
3-Hydroxy-3-Methylglutaric Aciduria	3-Methylglutaric aciduria, Ketonuria, Dehydration, Edema	ORPHA:20
Meckel Syndrome, Type 3	Multicystic kidney dysplasia	OMIM:607361
Cystic Fibrosis	Nasal polyposis, Recurrent pneumonia, Hypercalciuria, Recurrent bronchopulmonary infections, Bron...	OMIM:219700
Penile Agenesis	Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Bilateral lung agenesis, Unila...	ORPHA:49
Isolated Permanent Neonatal Diabetes Mellitus	Moderate albuminuria, Ketonuria, Glycosuria, Renal tubular dysfunction, Abnormality of the upper ...	ORPHA:99885
Atelosteogenesis Type I	Polyhydramnios, Multiple renal cysts, Pulmonary hypoplasia	ORPHA:1190
Mckusick-Kaufman Syndrome	Hydroureter, Vesicovaginal fistula, Edema, Hydronephrosis, Polycystic kidney dysplasia, Pedal ede...	OMIM:236700
Senior-Loken Syndrome 3	Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Enuresis	OMIM:606995
Colchicine Poisoning	Oliguria, Renal insufficiency, Dehydration	ORPHA:31824
Intellectual Developmental Disorder, X-Linked 112	Enuresis nocturna, Enuresis, Dilatation of the renal pelvis, Horseshoe kidney, Pyelonephritis, Ve...	OMIM:301111
Pearson Marrow-Pancreas Syndrome	3-Methylglutaric aciduria, Death in childhood, Renal Fanconi syndrome, Hypercalciuria, Complex or...	OMIM:557000
Carnitine Palmitoyltransferase Ii Deficiency	Red-brown urine, Stage 5 chronic kidney disease, Myoglobinuria, Renal tubular epithelial necrosis...	ORPHA:157
Microsporidiosis	Pneumonia, Nephritis, Bronchiolitis, Bronchitis, Urethritis, Abnormality of the urinary system ph...	ORPHA:2552
Congenital Disorder Of Glycosylation, Type Ia	Proximal tubulopathy, Death in childhood, Death in infancy, Nonimmune hydrops fetalis, Proteinuri...	OMIM:212065
Neuroleptic Malignant Syndrome	Acute kidney injury, Aspiration pneumonia, Proteinuria, Myoglobinuria, Urinary incontinence, Dehy...	ORPHA:94093
Generalized Pseudohypoaldosteronism Type 1	Dehydration, Recurrent upper and lower respiratory tract infections	ORPHA:171876
Fliedner-Zweier Syndrome	Hydronephrosis, Unilateral renal agenesis, Multicystic kidney dysplasia	OMIM:620511
Meckel Syndrome, Type 4	Renal cyst	OMIM:611134
Ventriculomegaly With Cystic Kidney Disease	Hyperechogenic kidneys, Renal insufficiency, Renal corticomedullary cysts, Tubular luminal dilata...	OMIM:219730
Kleefstra Syndrome	Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Pulmonary artery stenosis, Renal cyst...	ORPHA:261494
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Oligohydramnios, Multiple glomerula...	OMIM:267010
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Multicystic kidney dysplasia, Fetal megacystis	ORPHA:73246
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia	OMIM:619980
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Nephronophthisis, Hyperechogenic kidneys, Stage 5 chron...	OMIM:613159
Congenital Short Bowel Syndrome	Dehydration	OMIM:615237
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Ketonuria, Methylmalonic aciduria, Renal insufficiency, Glomerulopathy, Hydrops fetalis, Dehydrat...	ORPHA:79282
Kaposiform Lymphangiomatosis	Pleural effusion, Multiple renal cysts, Pericardial effusion, Abnormal lung morphology, Pancreati...	ORPHA:464329
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Horseshoe kidney, Renal cyst	ORPHA:166035
Mosaic Trisomy 9	Abnormal lung lobation, Horseshoe kidney, Oligohydramnios, Hydronephrosis, Multiple renal cysts, ...	ORPHA:99776
Congenital Bile Acid Synthesis Defect Type 2	Renal cyst, Dark urine	ORPHA:79303
Msh3-Related Attenuated Familial Adenomatous Polyposis	Renal cyst, Ovarian dermoid cyst	ORPHA:480536
Pearson Syndrome	Glycosuria, Renal insufficiency, Proteinuria, Renal cyst, Corneal stromal edema, Lacticaciduria, ...	ORPHA:699
Alveolar Echinococcosis	Pulmonary cyst, Hepatic cysts, Abnormal bladder morphology, Renal cyst, Pancreatic cysts, Pedal e...	ORPHA:284
Branchiootorenal Syndrome 1	Unilateral renal agenesis, Renal malrotation, Abnormal renal collecting system morphology, Vesico...	OMIM:113650
Meckel Syndrome 14	Oligohydramnios, Increased nuchal translucency, Pneumothorax, Polycystic kidney dysplasia, Pulmon...	OMIM:619879
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Oligohydramnios, Renal insufficiency, Death in infancy, Hydronephrosis, Long-cha...	OMIM:608836
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Dehydration	OMIM:620126
Congenital Disorder Of Glycosylation, Type If	Renal cortical cysts, Death in infancy	OMIM:609180
Bardet-Biedl Syndrome 12	Hydronephrosis, Hydroureter, Cystic renal dysplasia	OMIM:615989
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Dehydration	OMIM:620125
Harrod Syndrome	Multicystic kidney dysplasia, Hypospadias	ORPHA:2115
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Renal agenesis, Cystic renal dysplasia	OMIM:220500
Trisomy 17P	Hydronephrosis, Hypoplasia of penis, Urethral valve, Polycystic kidney dysplasia, Urethral stenosis	ORPHA:261290
Nephronophthisis 11	Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal...	OMIM:613550
Pallister-Hall Syndrome	Renal hypoplasia, Hydroureter, Abnormal lung lobation, Distal urethral duplication, Neonatal deat...	OMIM:146510
Mody	Nephropathy, Renal cyst, Glycosuria, Abnormality of the kidney	ORPHA:552
Peroxisome Biogenesis Disorder 2A (Zellweger)	Aminoaciduria, Palpebral edema, Polycystic kidney dysplasia, Death in childhood	OMIM:214110
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Renal cyst	OMIM:615560
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hemoglobinuria, Acute kidney injury, Anuria, Dehydration	ORPHA:90038
Peroxisome Biogenesis Disorder 1B	Renal cyst, Hyperoxaluria	OMIM:601539
Short-Rib Thoracic Dysplasia 12	Renal hypoplasia, Edema, Atelectasis, Ascites, Neonatal death, Polyhydramnios, Cystic renal dyspl...	OMIM:269860
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Dehydration	OMIM:177735
Mayer-Rokitansky-Kuster-Hauser Syndrome	Multicystic kidney dysplasia, Reduced renal corticomedullary differentiation, Polycystic ovaries,...	OMIM:277000
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Midshaft hypospadias, Hypernatriuria, Abnormal urine potassium concentration, Urogenital sinus an...	ORPHA:168558
Mosaic Variegated Aneuploidy Syndrome 1	Multicystic kidney dysplasia, Oligohydramnios, Nephroblastoma, Renal cyst, Micropenis, Hypospadias	OMIM:257300
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Red-brown urine, Dicarboxylic aciduria, Renal insufficiency, Myoglobinuria, Renal tubular epithel...	ORPHA:228308
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Midshaft hypospadias, Hypernatriuria, Abnormal urine potassium concentration, Urogenital sinus an...	ORPHA:289548
Joubert Syndrome 14	Renal cyst	OMIM:614424
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Renal cyst, Renal hypoplasia, Stillbirth, Pulmonary hypoplasia	OMIM:616300
Von Hippel-Lindau Syndrome	Multiple renal cysts, Renal cell carcinoma, Pulmonary capillary hemangiomatosis, Epididymal cyst,...	OMIM:193300
Transketolase Deficiency	Increased level of ribose in urine, Renal cyst	ORPHA:488618
Tuberous Sclerosis 1	Renal angiomyolipoma, Renal cell carcinoma, Pulmonary lymphangiomyomatosis, Renal cyst	OMIM:191100
Zellweger Syndrome	Hydronephrosis, Multicystic kidney dysplasia, Hypospadias, Death in infancy	ORPHA:912
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Horseshoe kidney, Renal cyst	OMIM:250410
Secondary Short Bowel Syndrome	Dehydration	ORPHA:95427
Epidermal Nevus Syndrome	Aortic aneurysm, Polycystic kidney dysplasia	ORPHA:35125
Fryns Syndrome	Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Polyhydramnios, Hypospadias,...	ORPHA:2059
Genitopatellar Syndrome	Hydronephrosis, Multicystic kidney dysplasia, Pulmonary hypoplasia	ORPHA:85201
Chromosome 17Q12 Deletion Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad...	OMIM:614527
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias	ORPHA:2075
Lysosomal Acid Lipase Deficiency	Hypernatriuria, Abnormal urine potassium concentration, Ascites, Renal salt wasting, Dehydration	ORPHA:275761
Tuberous Sclerosis Complex	Chronic kidney disease, Stage 5 chronic kidney disease, Pulmonary lymphangiomyomatosis, Respirato...	ORPHA:805
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Polyhydramnios, Micropenis, Hydrops fetalis, Polycystic kidney dysplasia, Pulmonary hypoplasia	OMIM:616546
Branchio-Oculo-Facial Syndrome	Hydronephrosis, Multicystic kidney dysplasia, Renal agenesis	ORPHA:1297
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Acute kidney injury, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Renal insuff...	ORPHA:93111
Joubert Syndrome 2	Renal cyst, Nephronophthisis, Renal insufficiency	OMIM:608091
Senior-Boichis Syndrome	Chronic kidney disease, Renal hypoplasia, Abnormal urinary electrolyte concentration, Hyperechoge...	ORPHA:84081
Peroxisome Biogenesis Disorder 5A (Zellweger)	Hypospadias, Death in infancy, Renal cyst, Death in adolescence, Palpebral edema, Polycystic kidn...	OMIM:614866
Tuberous Sclerosis 2	Pulmonary lymphangiomyomatosis, Renal angiomyolipoma, Renal cyst, Renal cell carcinoma, Absence o...	OMIM:613254
Pyruvate Carboxylase Deficiency	Dehydration, Lacticaciduria	ORPHA:3008
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Nephrocalcinosis, Abnormality of the urinary system, Abnormal lung lobation, Renal cyst, Hypercal...	ORPHA:369837
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Unilateral renal agenesis, Hypospadias, Oligohydramnios, Polyhydramnios, Hydronephrosis, Renal cy...	ORPHA:464311
2P15P16.1 Microdeletion Syndrome	Hydronephrosis, Recurrent respiratory infections, Polyhydramnios, Multicystic kidney dysplasia	ORPHA:261349
Thauvin-Robinet-Faivre Syndrome	Renal dysplasia, Bifid ureter, Nephroblastoma, Renal cyst, Renal malrotation, Pedal edema	OMIM:617107
Congenital Tufting Enteropathy	Dehydration	ORPHA:92050
Denys-Drash Syndrome	Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ...	OMIM:194080
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Polycystic kidney dysplasia, Hyperechogenic kidneys	OMIM:617866
Multiple Acyl-Coa Dehydrogenase Deficiency	3-Methylglutaric aciduria, Glutaric aciduria, Lacticaciduria, Polycystic kidney dysplasia, Ethylm...	ORPHA:26791
Fryns Syndrome	Chylothorax, Renal agenesis, Hydronephrosis, Renal cyst, Stillbirth, Polyhydramnios, Ureteral dup...	OMIM:229850
Mpdu1-Cdg	Renal cortical cysts	ORPHA:79323
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Renal cyst, Renal dysplasia	OMIM:617260
Pagod Syndrome	Multicystic kidney dysplasia, Pulmonary artery hypoplasia, Abnormality of the pulmonary artery, R...	ORPHA:991
Cornelia De Lange Syndrome 1	Pneumonia, Renal hypoplasia, Reduced renal corticomedullary differentiation, Vesicoureteral reflu...	OMIM:122470
Joubert Syndrome 39	Polycystic kidney dysplasia	OMIM:619562
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypocalciuria, Multiple small medullary renal cysts, Renal insufficiency, Nephrolithiasis, Parath...	OMIM:600740
Phelan-Mcdermid Syndrome	Lymphedema, Vesicoureteral reflux, Abnormality of the kidney, Palpebral edema, Polycystic kidney ...	OMIM:606232
Autosomal Recessive Polycystic Kidney Disease	Acute kidney injury, Spontaneous pneumothorax, Recurrent pneumonia, Oliguria, Recurrent urinary t...	ORPHA:731
2Q37 Microdeletion Syndrome	Multicystic kidney dysplasia, Nephroblastoma	ORPHA:1001
Khan-Khan-Katsanis Syndrome	Renal hypoplasia, Vesicoureteral reflux, Hydronephrosis, Renal cyst, Ureteral duplication	OMIM:618460
Trisomy 20P	Abnormality of the ureter, Hydronephrosis, Multiple renal cysts, Abnormality of the kidney, Abnor...	ORPHA:261318
Neuromuscular Oculoauditory Syndrome	Reduced renal corticomedullary differentiation, Multiple renal cysts	OMIM:618733
Meacham Syndrome	Horseshoe kidney, Congenital alveolar dysplasia, Scimitar anomaly, Death in childhood, Neonatal d...	OMIM:608978
Arima Syndrome	Nephronophthisis, Stage 5 chronic kidney disease, Renal sodium wasting, Hematuria, Proteinuria, R...	OMIM:243910
Joubert Syndrome 21	Renal cyst, Hyperechogenic kidneys, Pulmonary hypoplasia	OMIM:615636
Hyperparathyroidism-Jaw Tumor Syndrome	Nephrocalcinosis, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithiasis, Renal cy...	ORPHA:99880
Sacral Agenesis With Vertebral Anomalies	Unilateral renal agenesis, Persistent cloaca, Neonatal death	OMIM:615709
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Acute kidney injury, Nephronophthisis, Stage 5 chronic kidney disease, Reduced renal corticomedul...	OMIM:266920
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Long penis, Hypernatriuria, Urogenital sinus anomaly, Renal salt wasting, Elevated urinary epinep...	ORPHA:90794
Mckusick-Kaufman Syndrome	Multicystic kidney dysplasia, Glandular hypospadias, Renal hypoplasia/aplasia, Urethral stricture...	ORPHA:2473
Netherton Syndrome	Hypernatremic dehydration, Recurrent respiratory infections, Angioedema	OMIM:256500
Parathyroid Carcinoma	Nephrocalcinosis, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithiasis, Renal cy...	ORPHA:143
D-Bifunctional Protein Deficiency	Polyhydramnios, Renal cyst, Fetal ascites	OMIM:261515
Microgastria-Limb Reduction Defect Syndrome	Multicystic kidney dysplasia, Renal agenesis, Abnormal lung lobation, Horseshoe kidney, Crossed f...	ORPHA:2538
Developmental Delay With Or Without Dysmorphic Facies And Autism	Renal hypoplasia, Microphallus, Vesicoureteral reflux, Hydronephrosis, Renal cyst	OMIM:618454
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia	ORPHA:261197
Joubert Syndrome 1	Nephropathy, Renal cyst	OMIM:213300
Diarrhea 1, Secretory Chloride, Congenital	Polyhydramnios, Dehydration	OMIM:214700
Dyrk1A-Related Intellectual Disability Syndrome	Unilateral renal agenesis, Hypospadias, Oligohydramnios, Hydronephrosis, Renal cyst, Micropenis, ...	ORPHA:464306
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Renal cyst, Pancreatic cysts, Polycystic kidney dysplasia	OMIM:610199
Acrorenal-Mandibular Syndrome	Renal agenesis, Aplasia of the bladder, Abnormality of the ureter, Oligohydramnios, Polycystic ki...	OMIM:200980
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Unilateral renal agenesis, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Polycystic...	ORPHA:2237
Hyperchlorhidrosis, Isolated	Hypernatremic dehydration	OMIM:143860
Marden-Walker Syndrome	Abnormal penis morphology, Multicystic kidney dysplasia, Abnormality of the urinary system, Hydro...	ORPHA:2461
Dend Syndrome	Dehydration	ORPHA:79134
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Horseshoe kidney, Renal hypoplasia/aplasia, Abnormality of the pulm...	ORPHA:2092
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Micropenis, Polycystic kidney dysplasia, Enlarged kidney, Renal dysplasia	OMIM:613091
Attenuated Familial Adenomatous Polyposis	Multiple renal cysts	ORPHA:220460
Mosaic Variegated Aneuploidy Syndrome	Multicystic kidney dysplasia, Abnormal lung lobation, Ascites, Increased nuchal translucency, Nep...	ORPHA:1052
Histiocytoid Cardiomyopathy	Pulmonary edema, Renal cyst, Polycystic ovaries	ORPHA:137675
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Micropenis, Hydrops fetalis, Polycystic kidney dysplasia, Pulmonary hypoplasia	OMIM:263520
Joubert Syndrome With Hepatic Defect	Nephropathy, Multicystic kidney dysplasia, Renal insufficiency	ORPHA:1454
Multiple Endocrine Neoplasia Type 1	Hypercalciuria, Dehydration, Nephrolithiasis	ORPHA:652
Caroli Disease	Ascites, Polycystic kidney dysplasia	ORPHA:53035
Joubert Syndrome 5	Nephronophthisis, Stage 5 chronic kidney disease, Renal cortical cysts, Reduced renal corticomedu...	OMIM:610188
Cutis Marmorata Telangiectatica Congenita	Ascites, Multicystic kidney dysplasia, Displacement of the urethral meatus	ORPHA:1556
Alternating Hemiplegia Of Childhood	Dehydration	ORPHA:2131
Alagille Syndrome 1	Focal segmental glomerulosclerosis, Renal hypoplasia, Peripheral pulmonary artery stenosis, Multi...	OMIM:118450
15q26 overgrowth syndrome	Duplication of renal pelvis, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephro...	DECIPHER:81
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Polyhydramnios, Renal cortical cysts, Vesicoureteral reflux	OMIM:618548
Smith-Lemli-Opitz Syndrome	Unilateral renal agenesis, Renal hypoplasia, Duplicated collecting system, Renal agenesis, Abnorm...	OMIM:270400
Cerebrocostomandibular Syndrome	Multicystic kidney dysplasia, Death in infancy	ORPHA:1393
Marburg Hemorrhagic Fever	Renal insufficiency, Dehydration	ORPHA:99826
Cerebrocostomandibular Syndrome	Horseshoe kidney, Renal cyst, Ectopic kidney, Polyhydramnios	OMIM:117650
Cranioectodermal Dysplasia 2	Recurrent pneumonia, Renal insufficiency, Renal cyst, Polyhydramnios, Hydrops fetalis	OMIM:613610
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Recurrent respiratory infections, Hyperechogenic kidneys, Renal cortical cysts, Renal insufficien...	ORPHA:397715
Von Hippel-Lindau Disease	Macular edema, Elevated urinary catecholamine level, Multiple renal cysts, Renal cell carcinoma, ...	ORPHA:892
Hajdu-Cheney Syndrome	Hypospadias, Polycystic kidney dysplasia, Renal cyst	OMIM:102500
Smith-Lemli-Opitz Syndrome	Abnormal localization of kidney, Multicystic kidney dysplasia, Abnormal lung lobation, Increased ...	ORPHA:818
Schinzel-Giedion Syndrome	Recurrent pneumonia, Abnormality of the ureter, Nephroblastoma, Nephrolithiasis, Hydronephrosis, ...	ORPHA:798
Autosomal Recessive Robinow Syndrome	Multicystic kidney dysplasia, Death in infancy, Hydronephrosis, Recurrent respiratory infections,...	ORPHA:1507
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Renal hypoplasia, Hydronephrosis, Renal cyst, Hypoplasia of penis, Hydrops fetalis, Urethrovagina...	ORPHA:93271
C Syndrome	Renal cortical cysts	OMIM:211750
Syndromic Diarrhea	Renal hypoplasia, Peripheral pulmonary artery stenosis, Polycystic kidney dysplasia	ORPHA:84064
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Renal cyst, Vesicoureteral reflux, Hypospadias	OMIM:616975
Simpson-Golabi-Behmel Syndrome	Multicystic kidney dysplasia, Hydroureter, Nephroblastoma, Death in infancy, Hydronephrosis, Poly...	ORPHA:373
Distal Deletion 15Q	Multicystic kidney dysplasia, Micropenis, Abnormal localization of kidney, Hypospadias, Pulmonary...	ORPHA:1596
Floating-Harbor Syndrome	Hypospadias, Nephrocalcinosis, Dilatation of the renal pelvis, Renal agenesis, Stage 5 chronic ki...	ORPHA:2044
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Renal hypoplasia, Oligohydramnios, Death in childhood, Death in infancy, Renal cyst, Stillbirth, ...	OMIM:210710
Ogden Syndrome	Peripheral pulmonary artery stenosis, Lymphedema, Oligohydramnios, Pulmonary edema, Pulmonary art...	OMIM:300855
Spondylocarpotarsal Synostosis Syndrome	Renal cyst	OMIM:272460
Osteopathia Striata With Cranial Sclerosis	Polyhydramnios, Multicystic kidney dysplasia, Oligohydramnios	OMIM:300373
Jacobsen Syndrome	Hydronephrosis, Recurrent respiratory infections, Death in infancy, Multicystic kidney dysplasia	ORPHA:2308
Beckwith-Wiedemann Syndrome	Nephrocalcinosis, Renal cortical cysts, Vesicoureteral reflux, Nephroblastoma, Nephrolithiasis, E...	OMIM:130650
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Multicystic kidney dysplasia, Bifid ureter, Nephroblastoma, Renal malrotation, Enlarged kidney	ORPHA:500095
Meckel Syndrome, Type 1	Hypoplasia of the bladder, Renal agenesis, Abnormality of the ureter, Oligohydramnios, Polycystic...	OMIM:249000
C Syndrome	Multicystic kidney dysplasia, Horseshoe kidney, Death in infancy, Renal hypoplasia/aplasia, Polyh...	ORPHA:1308
Vipoma	Ascites, Dehydration	ORPHA:97282
Orofaciodigital Syndrome I	Hepatic cysts, Ovarian cyst, Proteinuria, Pancreatic cysts, Polycystic kidney dysplasia	OMIM:311200
Meckel Syndrome	Multicystic kidney dysplasia, Oligohydramnios, Urethral atresia, Ureteral duplication, Pancreatic...	ORPHA:564
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Unilateral renal agenesis, Recurrent upper respiratory tract infections, Multicystic kidney dyspl...	OMIM:308205
Paternal Uniparental Disomy Of Chromosome 6	Oligohydramnios, Dehydration	ORPHA:96191
Distal Deletion 12Q	Vesicoureteral reflux, Hydronephrosis, Ectopic kidney, Micropenis, Polycystic kidney dysplasia	ORPHA:96149
Ulbright-Hodes Syndrome	Abnormal penis morphology, Renal hypoplasia, Oligohydramnios, Pneumothorax, Polycystic kidney dys...	ORPHA:3404
Roberts Syndrome	Polyhydramnios, Long penis, Polycystic kidney dysplasia	ORPHA:3103
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Hydronephrosis, Multicystic kidney dysplasia, Hydromyelia, Micropenis	OMIM:615287
Orofaciodigital Syndrome Type 1	Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Hydronephrosis, Pancreatic cysts	ORPHA:2750
Hajdu-Cheney Syndrome	Recurrent respiratory infections, Hypospadias, Multiple renal cysts	ORPHA:955
22Q11.2 Deletion Syndrome	Renal hypoplasia, Atelectasis, Abnormal lung lobation, Vesicoureteral reflux, Multiple renal cyst...	ORPHA:567
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Renal cyst, Hypospadias	ORPHA:495875
Trisomy 10P	Multiple renal cysts, Abnormality of the kidney	ORPHA:171929
Caroli Syndrome	Polycystic kidney dysplasia, Abnormality of the kidney	ORPHA:480520
Proteus Syndrome	Pulmonary cyst, Long penis, Bronchogenic cyst, Abnormal lung lobation, Lymphedema, Enlarged polyc...	ORPHA:744
Beckwith-Wiedemann Syndrome	Nephropathy, Vesicoureteral reflux, Nephroblastoma, Nephrolithiasis, Hypercalciuria, Multiple ren...	ORPHA:116
1P36 Deletion Syndrome	Aortic arch aneurysm, Hydronephrosis, Renal cyst, Abnormality of the kidney, Hypoplasia of penis,...	ORPHA:1606
Williams Syndrome	Death in early adulthood, Polycystic ovaries, Periorbital edema, Aortic arch aneurysm, Renal insu...	ORPHA:904
Peters Plus Syndrome	Multicystic kidney dysplasia, Abnormality of the pulmonary artery, Renal hypoplasia/aplasia, Hydr...	ORPHA:709
Robinow Syndrome	Webbed penis, Multicystic kidney dysplasia, Hydronephrosis, Micropenis	ORPHA:97360
Simpson-Golabi-Behmel Syndrome, Type 1	Total anomalous pulmonary venous return, Duplication of renal pelvis, Abnormal lung lobation, Nep...	OMIM:312870
Tetrasomy 9P	Recurrent urinary tract infections, Horseshoe kidney, Hydronephrosis, Multiple renal cysts, Micro...	ORPHA:3310
Genitopatellar Syndrome	Multicystic kidney dysplasia, Polyhydramnios, Hydronephrosis, Micropenis, Pulmonary hypoplasia	OMIM:606170
Femoral-Facial Syndrome	Abnormal renal collecting system morphology, Renal agenesis, Bilobed right lung, Micropenis, Poly...	OMIM:134780
Bardet-Biedl Syndrome	Chronic kidney disease, Horseshoe kidney, Vesicoureteral reflux, Polycystic ovaries, Hydronephros...	ORPHA:110
Townes-Brocks Syndrome	Renal hypoplasia, Renal insufficiency, Vesicoureteral reflux, Multiple renal cysts, Ectopic kidne...	ORPHA:857
Cornelia De Lange Syndrome	Multicystic kidney dysplasia, Increased nuchal translucency, Vesicoureteral reflux, Renal insuffi...	ORPHA:199
Townes-Brocks Syndrome 1	Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureth...	OMIM:107480
Roberts-Sc Phocomelia Syndrome	Long penis, Horseshoe kidney, Stillbirth, Polyhydramnios, Polycystic kidney dysplasia, Hypospadias	OMIM:268300
Pallister-Killian Syndrome	Polyhydramnios, Renal cyst, Stillbirth, Edema of the dorsum of feet, Hypospadias, Renal dysplasia...	OMIM:601803
Branchiooculofacial Syndrome	Renal cyst, Hypospadias, Renal agenesis	OMIM:113620
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Renal agenesis, Vesicoureteral reflux, Ureteropelvic junction obstr...	OMIM:164210
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Webbed penis, Multicystic kidney dysplasia, Vesicoureteral reflux, Abnormality of the pulmonary a...	ORPHA:261537
Mowat-Wilson Syndrome	Webbed penis, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal duplication, Pulmonary a...	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Webbed penis, Multicystic kidney dysplasia, Duplication of renal pelvis, Vesicoureteral reflux, A...	ORPHA:261552
Pmm2-Cdg	Anasarca, Aspiration pneumonia, Lymphedema, Proteinuria, Abnormal renal tubule morphology, Multip...	ORPHA:79318
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Focal segmental glomerulosclerosis, Nephrotic syndrome, Decreased glomerular filtration rate, Ren...	OMIM:614748

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 Itga3

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 Itga3.

No publications found that use IMPC mice or data for Itga3.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Itga3^{tm51121(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Itga3^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Itga3^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Itga3^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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