Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

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

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

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 (401 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		Recurrent respiratory infections, Renal insufficiency, Proteinuria, Abnormal pulmonary interstiti...	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	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i...	OMIM:620056
Bardet-Biedl Syndrome 10	Renal insufficiency, Renal cyst	OMIM:615987
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
Bardet-Biedl Syndrome 16	Recurrent respiratory infections, Renal insufficiency, Renal agenesis, Stage 5 chronic kidney dis...	OMIM:615993
Renal Tubular Dysgenesis	Polyhydramnios, Proximal tubulopathy, Multiple renal cysts, Pulmonary hypoplasia, Nephropathy, Re...	ORPHA:3033
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Polyhydramnios, Pulmonary hypoplasia, Renal dysplasia, Oligohydramnios	ORPHA:3032
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral...	OMIM:617271
Hypercalcemia, Infantile, 1	Polyuria, Nephrolithiasis, Hypercalciuria, Dehydration, Nephrocalcinosis, Medullary nephrocalcinosis	OMIM:143880
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Absence of renal corticomedullary differentiation, Pancreatic...	OMIM:263200
Cystic Hamartoma Of Lung And Kidney	Recurrent respiratory infections, Multicystic kidney dysplasia, Pulmonary fibrosis	ORPHA:2111
Indomethacin Embryofetopathy	Renal insufficiency, Multicystic kidney dysplasia, Hydrops fetalis, Oligohydramnios, Nephropathy,...	ORPHA:1909
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r...	OMIM:617805
Peroxisome Biogenesis Disorder 6A (Zellweger)	Neonatal death, Renal cyst	OMIM:614870
Combined Malonic And Methylmalonic Aciduria	Methylmalonic aciduria, Dehydration	OMIM:614265
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
Thomas Syndrome	Multicystic kidney dysplasia, Oligohydramnios, Renal hypoplasia/aplasia	ORPHA:3316
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Nephrocalcinosis, Distal renal tubular acidosis, Hypercalciuria, Dehydration	OMIM:602722
Oligomeganephronia	Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Unilateral renal agenesis, Glomerul...	ORPHA:2260
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe...	OMIM:617610
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Ascites, Renal cyst	OMIM:174050
Isobutyryl-Coa Dehydrogenase Deficiency	Dicarboxylic aciduria, Dehydration	ORPHA:79159
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Vitamin B12-Responsive Methylmalonic Acidemia	Renal insufficiency, Dehydration	ORPHA:28
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia	ORPHA:2091
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Pulmonary hypoplasia, Neonatal death...	OMIM:236500
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Neonatal death, Myoglobinuria, Dehydration	OMIM:602199
Bardet-Biedl Syndrome 4	Abnormality of the kidney, Renal cyst	OMIM:615982
Meckel Syndrome, Type 11	Polycystic kidney dysplasia, Oligohydramnios	OMIM:615397
Fanconi Anemia, Complementation Group O	Death in infancy, Miscarriage, Stage 5 chronic kidney disease, Renal cyst, Neonatal death, Hydron...	OMIM:613390
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Combined Malonic And Methylmalonic Acidemia	Dicarboxylic aciduria, Methylmalonic aciduria, Dehydration	ORPHA:289504
Birt-Hogg-Dube Syndrome 1	Multiple pulmonary cysts, Renal neoplasm, Spontaneous pneumothorax, Renal cyst, Renal cell carcinoma	OMIM:135150
Netherton Syndrome	Recurrent respiratory infections, Ectopic kidney, Dehydration, Aminoaciduria, Emphysema, Hydronep...	ORPHA:634
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Neonatal death, Death in infancy, Cystic renal dysplasia, Ectopic kidney	OMIM:613730
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Death in infancy, Dehydration, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Renal tub...	OMIM:208085
Nephronophthisis 14	Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Central Diabetes Insipidus	Nocturia, Dehydration	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	Stillbirth, Polyhydramnios, Hepatic cysts, Renal cyst	OMIM:263630
Microvillus Inclusion Disease	Nephrocalcinosis, Abnormal renal physiology, Dehydration	ORPHA:2290
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Recurrent respiratory infections, Dehydration, Renal salt wasting	OMIM:264350
Rhyns Syndrome	Multicystic kidney dysplasia, Nephronophthisis	ORPHA:140976
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Polyuria, Dehydration, Death in adolescence, Proximal tubulopathy, Death in childhood	OMIM:560000
Joubert Syndrome 16	Renal cyst, Nephronophthisis	OMIM:614465
Combined Oxidative Phosphorylation Deficiency 11	Death in infancy, Renal insufficiency, Polyhydramnios, Renal hypoplasia, Renal cyst, Renal tubula...	OMIM:614922
Hepatorenocardiac Degenerative Fibrosis	Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced renal corticomedulla...	OMIM:619902
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Multicystic kidney dysplasia	ORPHA:3270
Glucose-Galactose Malabsorption	Hematuria, Renal insufficiency, Nephrolithiasis, Dehydration	ORPHA:35710
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Death in infancy, Dehydration	OMIM:251850
Trisomy X	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3375
Joubert Syndrome 20	Renal cyst	OMIM:614970
Methylmalonyl-Coa Epimerase Deficiency	Ketonuria, Methylmalonic aciduria, Dehydration	OMIM:251120
Nephronophthisis 16	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi...	OMIM:615382
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Renal insufficiency, Dehydration	ORPHA:79312
Nephronophthisis 9	Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613824
Inflammatory Skin And Bowel Disease, Neonatal, 2	Recurrent pneumonia, Recurrent bronchiolitis, Polyhydramnios, Dehydration	OMIM:616069
Lamellar Ichthyosis	Recurrent respiratory infections, Renal insufficiency, Dehydration	ORPHA:313
Isolated Polycystic Liver Disease	Multiple renal cysts	ORPHA:2924
Genitopalatocardiac Syndrome	Hypospadias, Renal cyst	OMIM:231060
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Vesicoureteral reflux, Abnormality of the pulmonary artery, Multiple renal cysts, Renal hypoplasi...	ORPHA:1166
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617874
Familial Renal Glucosuria	Recurrent urinary tract infections, Dehydration, Renal tubular dysfunction, Enuresis, Glycosuria,...	ORPHA:69076
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo...	OMIM:602088
Alpha-Methylacetoacetic Aciduria	Dehydration	OMIM:203750
Chronic Hiccup	Dehydration	ORPHA:396
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis...	OMIM:610205
Vitamin B12-Unresponsive Methylmalonic Acidemia	Renal insufficiency, Dehydration	ORPHA:27
Bartter Syndrome, Type 3	Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,...	OMIM:607364
Prune Belly Syndrome	Recurrent respiratory infections, Multicystic kidney dysplasia, Renal insufficiency, Hydroureter,...	ORPHA:2970
Diarrhea 4, Malabsorptive, Congenital	Dehydration	OMIM:610370
Isovaleric Acidemia	Hyperglycinuria, Dehydration	OMIM:243500
Diabetes Mellitus, Transient Neonatal, 1	Dehydration	OMIM:601410
Meckel Syndrome 13	Polycystic kidney dysplasia	OMIM:617562
Lactase Deficiency, Congenital	Dehydration	OMIM:223000
Transient Neonatal Diabetes Mellitus	Abnormality of the urinary system, Abnormality of the kidney, Dehydration	ORPHA:99886
Peroxisome Biogenesis Disorder 11A (Zellweger)	Multiple renal cysts, Renal cyst	OMIM:614883
Corticosterone Methyloxidase Type I Deficiency	Dehydration, Renal salt wasting	OMIM:203400
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Cystinosis	Renal insufficiency, Proteinuria, Dehydration, Renal tubular dysfunction, Aminoaciduria, Nephropathy	ORPHA:213
Corticosterone Methyloxidase Type Ii Deficiency	Dehydration, Renal salt wasting	OMIM:610600
Glucose/Galactose Malabsorption	Hypertonic dehydration, Glycosuria	OMIM:606824
Renal-Hepatic-Pancreatic Dysplasia 2	Abnormal lung lobation, Stillbirth, Pulmonary hypoplasia, Enlarged kidney, Cystic renal dysplasia...	OMIM:615415
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia...	OMIM:603860
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne...	OMIM:614817
Say Syndrome	Proximal renal tubular acidosis, Cystic renal dysplasia	OMIM:181180
Meckel Syndrome, Type 8	Pericardial effusion, Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys	OMIM:613885
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome...	OMIM:618061
Reticular Dysgenesis	Recurrent respiratory infections, Dehydration	ORPHA:33355
Renal Hypoplasia, Bilateral	Proteinuria, Edema, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microg...	ORPHA:97362
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Hematuria, Renal insufficiency, Renal cyst	OMIM:611773
Diaphanospondylodysostosis	Multiple renal cysts	ORPHA:66637
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal...	ORPHA:1475
Carnitine Deficiency, Systemic Primary	Dicarboxylic aciduria, Dehydration	OMIM:212140
Distal Renal Tubular Acidosis	Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,...	ORPHA:18
Joubert Syndrome 18	Renal cyst, Horseshoe kidney	OMIM:614815
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Methylmalonic aciduria, Dehydration	OMIM:251000
Campomelia, Cumming Type	Pancreatic cysts, Polycystic kidney dysplasia, Lymphedema	OMIM:211890
Cerebrooculofacioskeletal Syndrome 1	Recurrent pneumonia, Dehydration, Death in childhood	OMIM:214150
Joubert Syndrome 7	Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis	OMIM:611560
Peroxisome Biogenesis Disorder 3A (Zellweger)	Polycystic kidney dysplasia	OMIM:614859
Congenital Disorder Of Glycosylation, Type Ib	Death in childhood, Proximal tubulopathy, Renal cyst, Edema	OMIM:602579
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic...	ORPHA:730
Axial Osteomalacia	Renal cyst	OMIM:109130
Axial Mesodermal Dysplasia Spectrum	Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,...	ORPHA:1834
Propionic Acidemia	Increased level of hippuric acid in urine, Hyperglycinuria, Dehydration	OMIM:606054
Joubert Syndrome 35	Recurrent urinary tract infections, Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis	OMIM:618161
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Megacystis, Polyuria, Hypertonic dehydration	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Megacystis, Polyuria, Hypertonic dehydration	OMIM:304800
Hyperparathyroidism 2 With Jaw Tumors	Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren...	OMIM:145001
Cholera	Abnormality of renal excretion, Miscarriage, Dehydration, Aspiration pneumonia, Acute kidney inju...	ORPHA:173
Campomelia, Cumming Type	Death in infancy, Multicystic kidney dysplasia, Lymphedema, Pancreatic cysts, Hydrops fetalis, Mu...	ORPHA:1318
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Hydroureter, Recu...	ORPHA:79404
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Edema, Absence of renal corticomedu...	OMIM:120330
Early-Onset Familial Hypoaldosteronism	Renal sodium wasting, Dehydration	ORPHA:556030
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Dehydration, Nephrocalcinosi...	OMIM:259900
Bardet-Biedl Syndrome 6	Hypospadias, Renal cyst	OMIM:605231
Gillessen-Kaesbach-Nishimura Syndrome	Polyhydramnios, Abnormal lung lobation, Pulmonary hypoplasia, Polycystic kidney dysplasia, Oligoh...	OMIM:263210
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma...	OMIM:231680
Combined Oxidative Phosphorylation Deficiency 47	Dehydration	OMIM:618958
Congenital Disorder Of Glycosylation, Type Il	Pericardial effusion, Ascites, Polycystic kidney dysplasia, Edema	OMIM:608776
Peroxisome Biogenesis Disorder 4A (Zellweger)	Death in infancy, Renal cyst	OMIM:614862
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hypospadias, Renal hypoplasia, Renal cyst, Hydrops fetalis, Pulmonary hypoplasia, Polycystic kidn...	OMIM:614091
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Hepatic cysts, Polycystic kidney dysplasia	OMIM:600666
Nephrogenic Diabetes Insipidus	Hypernatremic dehydration, Renal insufficiency, Hydroureter, Polyhydramnios, Functional abnormali...	ORPHA:223
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia	OMIM:173900
Odontochondrodysplasia 1	Recurrent respiratory infections, Death in infancy, Pulmonary hypoplasia, Polycystic kidney dyspl...	OMIM:184260
Adrenal Hypoplasia, Congenital	Dehydration, Renal salt wasting	OMIM:300200
3-Methylglutaconic Aciduria, Type Viib	3-Methylglutaconic aciduria, Recurrent pneumonia, Polyhydramnios, Dehydration	OMIM:616271
Primary Fanconi Renotubular Syndrome	Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu...	ORPHA:3337
Wolcott-Rallison Syndrome	Ascites, Renal insufficiency, Chronic kidney disease, Dehydration	ORPHA:1667
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Ketonuria, Dehydration	OMIM:615453
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H...	ORPHA:47159
Bartter Syndrome Type 4	Polyhydramnios, Renal salt wasting, Increased urinary potassium, Impaired renal concentrating abi...	ORPHA:89938
Verheij Syndrome	Renal agenesis, Renal hypoplasia, Renal cyst	OMIM:615583
Autosomal Agammaglobulinemia	Recurrent respiratory infections, Bronchiectasis, Dehydration	ORPHA:33110
3-Methylglutaconic Aciduria Type 7	Renal insufficiency, Pneumothorax, Renal cyst, Nephrocalcinosis, 3-Methylglutaconic aciduria	ORPHA:445038
Cystic Echinococcosis	Multiple pulmonary cysts, Pulmonary cyst, Renal cyst, Membranous nephropathy, Ovarian cyst, Abnor...	ORPHA:400
Diaphanospondylodysostosis	Nephrogenic rest, Increased nuchal translucency, Nephroblastomatosis, Horseshoe kidney, Pulmonary...	OMIM:608022
Meckel Syndrome, Type 6	Bilobed right lung, Renal cyst, Horseshoe kidney, Aplasia of the bladder, Pulmonary hypoplasia, H...	OMIM:612284
Meckel Syndrome, Type 10	Micropenis, Hypospadias, Renal cyst	OMIM:614175
Arthrogryposis Multiplex Congenita 6	Death in infancy, Hypospadias, Polyhydramnios, Death in childhood, Neonatal death	OMIM:619334
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ...	ORPHA:2973
Shigellosis	Pneumonia, Hemolytic-uremic syndrome, Urethritis, Dehydration, Acute kidney injury	ORPHA:810
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Recurrent urinary tract infections, Renal insufficiency, Stage 5 chronic kidney disease, Multiple...	OMIM:613095
Meckel Syndrome, Type 5	Renal cyst	OMIM:611561
Nephronophthisis 1	Polyuria, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Hyposthenuria...	OMIM:256100
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Trisomy 13	Abnormality of the ureter, Abnormal lung lobation, Hydrops fetalis, Multiple renal cysts, Displac...	ORPHA:3378
Renal-Hepatic-Pancreatic Dysplasia 1	Renal insufficiency, Hepatic cysts, Pancreatic cysts, Ureteral atresia, Stage 5 chronic kidney di...	OMIM:208540
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Polyuria, Polyhydramnios, Renal salt wasting, Increased urinary potassium, Hype...	OMIM:601678
Methylmalonic Aciduria, Cblb Type	Ketonuria, Methylmalonic aciduria, Dehydration	OMIM:251110
Familial Cold Urticaria	Dehydration	ORPHA:47045
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
Bardet-Biedl Syndrome 17	Polyuria, Micropenis, Stage 5 chronic kidney disease, Renal cyst	OMIM:615994
Harlequin Ichthyosis	Recurrent respiratory infections, Dehydration	ORPHA:457
Peutz-Jeghers Syndrome	Nasal polyposis, Enlarged polycystic ovaries, Abnormality of the ureter, Neoplasm of the lung, Re...	ORPHA:2869
Methylmalonic Aciduria, Cbla Type	Ketonuria, Elevated urine 3-hydroxypropionic acid level, Methylmalonic aciduria, Dehydration, Ele...	OMIM:251100
Structural Heart Defects And Renal Anomalies Syndrome	Death in infancy, Renal insufficiency, Partial anomalous pulmonary venous return, Renal cyst, Gen...	OMIM:617478
Juvenile Nephropathic Cystinosis	Renal insufficiency, Proteinuria, Chronic kidney disease, Abnormal urine potassium concentration,...	ORPHA:411634
Coach Syndrome 1	Unilateral renal agenesis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, ...	OMIM:216360
Bor Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu...	ORPHA:107
Osteootohepatoenteric Syndrome	Proteinuria, Grade II vesicoureteral reflux, Dehydration	OMIM:619377
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Femoral-Facial Syndrome	Long penis, Abnormal localization of kidney, Polycystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:1988
Vacterl/Vater Association	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Polyhydramnios, E...	ORPHA:887
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Multicystic kidney dysplasia, Renal cyst	ORPHA:2031
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormal tubulointerstitial morphology, Dehydration, Renal tubular dysfunction...	ORPHA:411629
Beta-Ketothiolase Deficiency	Ketonuria, Edema, Dehydration	ORPHA:134
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th...	OMIM:137920
Enteric Anendocrinosis	Dehydration	ORPHA:83620
Mosaic Trisomy 1	Polyhydramnios, Increased nuchal translucency, Renal cortical cysts, Renal cyst, Pulmonary hypopl...	ORPHA:1692
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Dehydration, Hypospadias, Penoscrotal hypospadias, Renal salt wasting	ORPHA:90791
Radio-Renal Syndrome	Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Chylothorax, Pleural effu...	ORPHA:3015
Dopamine Beta-Hydroxylase Deficiency	Elevated urinary dopamine level, Nocturia, Dehydration	ORPHA:230
Immunodeficiency 96	Recurrent lower respiratory tract infections, Multicystic kidney dysplasia	OMIM:619774
Congenital Enterocyte Heparan Sulfate Deficiency	Edema, Dehydration	ORPHA:103910
17Q12 Microdeletion Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Ureterocele, Oligohy...	ORPHA:261265
Nabais Sa-De Vries Syndrome, Type 2	Multicystic kidney dysplasia, Polyhydramnios	OMIM:618829
Familial Adenomatous Polyposis 4	Ovarian cyst, Renal cyst	OMIM:617100
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Death in infancy, Multicystic kidney dysplasia, Hydroureter, Polyhydramnios, Megacystis	ORPHA:2241
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Polyuria, Polyhydramnios, Renal salt wasting, Increased urinary potassium, Hype...	OMIM:241200
Lymphangioleiomyomatosis	Recurrent respiratory infections, Abnormal urinary color, Renal neoplasm, Lymphedema, Atelectasis...	ORPHA:538
Oculocerebrorenal Syndrome Of Lowe	Recurrent respiratory infections, Renal insufficiency, Glomerulopathy, Proteinuria, Death in infa...	ORPHA:534
Tetraamelia-Multiple Malformations Syndrome	Aplasia/Hypoplasia of the lungs, Multicystic kidney dysplasia, Abnormal lung lobation, Polyhydram...	ORPHA:3301
Meckel Syndrome, Type 2	Renal cyst	OMIM:603194
Cystinosis, Nephropathic	Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Ne...	OMIM:219800
Trisomy 1Q	Multicystic kidney dysplasia, Polyhydramnios, Increased nuchal translucency, Hydrops fetalis, Con...	ORPHA:261344
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis	OMIM:615398
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Polyhydramnios, Urethral atresia, Pulmonary hypoplasia, Neonatal death, Hydronephrosis, Enlarged ...	OMIM:314390
Distal Triplication 15Q	Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe kidney, Pulmonary hypoplasia...	ORPHA:314588
Meckel Syndrome, Type 3	Multicystic kidney dysplasia	OMIM:607361
Acrocephalopolydactylous Dysplasia	Pulmonary hypoplasia, Extrapulmonary sequestrum, Ascites, Cystic renal dysplasia, Enlarged kidney	OMIM:200995
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Recurrent respiratory infections, Renal insufficiency, Death in infancy, Proteinuria, Pancreatic ...	OMIM:208500
3-Hydroxy-3-Methylglutaric Aciduria	3-Methylglutaric aciduria, Ketonuria, Edema, Dehydration	ORPHA:20
Colchicine Poisoning	Renal insufficiency, Oliguria, Dehydration	ORPHA:31824
Penile Agenesis	Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o...	ORPHA:49
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydroureter, Polyhydramnios, Megacystis, Fetal megacystis, Neonatal death, Hydronephrosis	OMIM:619362
Pearson Marrow-Pancreas Syndrome	Hypercalciuria, Hydrops fetalis, Dehydration, 3-Methylglutaric aciduria, Renal Fanconi syndrome, ...	OMIM:557000
Meckel Syndrome, Type 4	Renal cyst	OMIM:611134
Mckusick-Kaufman Syndrome	Hydroureter, Edema, Pedal edema, Pulmonary hypoplasia, Polycystic kidney dysplasia, Vesicovaginal...	OMIM:236700
Congenital Disorder Of Glycosylation, Type Ia	Death in infancy, Proteinuria, Nonimmune hydrops fetalis, Edema, Pericardial effusion, Renal cyst...	OMIM:212065
Microsporidiosis	Pneumonia, Bronchitis, Urethritis, Dehydration, Abnormality of the urinary system physiology, Bro...	ORPHA:2552
Ventriculomegaly With Cystic Kidney Disease	Renal insufficiency, Polyhydramnios, Tubular luminal dilatation, Renal corticomedullary cysts, Hy...	OMIM:219730
Senior-Loken Syndrome 3	Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis	OMIM:606995
Bardet-Biedl Syndrome	Nephrotic syndrome, Hypoplasia of penis, Multicystic kidney dysplasia	ORPHA:110
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Multicystic kidney dysplasia, Fetal megacystis	ORPHA:73246
Atelosteogenesis Type I	Multiple renal cysts, Pulmonary hypoplasia, Polyhydramnios	ORPHA:1190
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia	OMIM:619980
Neuroleptic Malignant Syndrome	Proteinuria, Urinary incontinence, Dehydration, Aspiration pneumonia, Myoglobinuria, Acute kidney...	ORPHA:94093
Isolated Permanent Neonatal Diabetes Mellitus	Ketonuria, Abnormality of the upper urinary tract, Dehydration, Renal tubular dysfunction, Glycos...	ORPHA:99885
Pallister-Hall Syndrome	Renal dysplasia, Hydroureter, Distal urethral duplication, Ectopic kidney, Abnormal lung lobation...	OMIM:146510
Generalized Pseudohypoaldosteronism Type 1	Recurrent upper and lower respiratory tract infections, Dehydration	ORPHA:171876
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Multiple glomerular cysts, Pancreatic cysts, Stage 5 chronic kidney...	OMIM:267010
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Glomerulopathy, Renal insufficiency, Ketonuria, Hemolytic-uremic syndrome, Hydrops fetalis, Methy...	ORPHA:79282
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Renal cyst	ORPHA:480536
Kleefstra Syndrome	Recurrent respiratory infections, Hypoplasia of penis, Renal insufficiency, Hypospadias, Pulmonar...	ORPHA:261494
Congenital Short Bowel Syndrome	Dehydration	OMIM:615237
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Pancreatic cysts, Stage 5 chronic kidney disease, Renal...	OMIM:613159
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Renal cyst, Horseshoe kidney	ORPHA:166035
Mosaic Trisomy 9	Renal dysplasia, Hypoplasia of penis, Polyhydramnios, Abnormal lung lobation, Hydrops fetalis, Ho...	ORPHA:99776
Pearson Syndrome	Renal insufficiency, Proteinuria, Lacticaciduria, Renal cyst, Hydrops fetalis, Dehydration, Corne...	ORPHA:699
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Renal cyst	ORPHA:79303
Branchiootorenal Syndrome 1	Renal malrotation, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dysplasia, Vesic...	OMIM:113650
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Ureteral duplication, Renal insufficiency, Death in infancy, Long-chain dicarbox...	OMIM:608836
Carnitine Palmitoyltransferase Ii Deficiency	Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, Tubulointerst...	ORPHA:157
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Dehydration	OMIM:620126
Congenital Disorder Of Glycosylation, Type If	Death in infancy, Renal cortical cysts	OMIM:609180
Kaposiform Lymphangiomatosis	Pancreatic cysts, Pericardial effusion, Abnormal lung morphology, Multiple renal cysts, Pleural e...	ORPHA:464329
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Dehydration	OMIM:620125
Harrod Syndrome	Multicystic kidney dysplasia, Hypospadias	ORPHA:2115
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:613550
Trisomy 17P	Hypoplasia of penis, Urethral valve, Urethral stenosis, Polycystic kidney dysplasia, Hydronephrosis	ORPHA:261290
Cystic Fibrosis	Nasal polyposis, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis, Dehy...	OMIM:219700
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Renal agenesis, Cystic renal dysplasia	OMIM:220500
Peroxisome Biogenesis Disorder 2A (Zellweger)	Aminoaciduria, Palpebral edema, Polycystic kidney dysplasia, Death in childhood	OMIM:214110
Alveolar Echinococcosis	Pulmonary cyst, Pancreatic cysts, Renal cyst, Pedal edema, Abnormal bladder morphology, Hepatic c...	ORPHA:284
Bardet-Biedl Syndrome 12	Hydronephrosis, Hydroureter, Cystic renal dysplasia	OMIM:615989
Meckel Syndrome 14	Increased nuchal translucency, Pneumothorax, Pulmonary hypoplasia, Polycystic kidney dysplasia, O...	OMIM:619879
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Dehydration	OMIM:177735
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Renal cyst	OMIM:615560
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Renal salt wasting, Abnormal urine potassium concentration, Dehydration, Hypernatriuria, Midshaft...	ORPHA:168558
Short-Rib Thoracic Dysplasia 12	Edema, Polyhydramnios, Atelectasis, Renal hypoplasia, Pulmonary hypoplasia, Neonatal death, Ascit...	OMIM:269860
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hemoglobinuria, Anuria, Acute kidney injury, Dehydration	ORPHA:90038
Joubert Syndrome 14	Renal cyst	OMIM:614424
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Renal salt wasting, Abnormal urine potassium concentration, Dehydration, Hypernatriuria, Midshaft...	ORPHA:289548
Transketolase Deficiency	Increased level of ribose in urine, Renal cyst	ORPHA:488618
Mosaic Variegated Aneuploidy Syndrome 1	Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Renal cyst, Micropenis, Oligohydramnios	OMIM:257300
Mody	Nephropathy, Abnormality of the kidney, Renal cyst, Glycosuria	ORPHA:552
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Renal cyst	OMIM:601539
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Stillbirth, Pulmonary hypoplasia, Renal cyst, Renal hypoplasia	OMIM:616300
Zellweger Syndrome	Death in infancy, Multicystic kidney dysplasia, Hypospadias, Hydronephrosis	ORPHA:912
Von Hippel-Lindau Syndrome	Pancreatic cysts, Pulmonary capillary hemangiomatosis, Renal cell carcinoma, Multiple renal cysts...	OMIM:193300
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Renal cyst, Horseshoe kidney	OMIM:250410
Epidermal Nevus Syndrome	Polycystic kidney dysplasia, Aortic aneurysm	ORPHA:35125
Tuberous Sclerosis 1	Renal angiomyolipoma, Renal cell carcinoma, Renal cyst, Pulmonary lymphangiomyomatosis	OMIM:191100
Secondary Short Bowel Syndrome	Dehydration	ORPHA:95427
Fryns Syndrome	Multicystic kidney dysplasia, Hypospadias, Polyhydramnios, Pulmonary hypoplasia, Vesicoureteral r...	ORPHA:2059
Chromosome 17Q12 Deletion Syndrome	Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil...	OMIM:614527
Genitopatellar Syndrome	Hydronephrosis, Multicystic kidney dysplasia, Pulmonary hypoplasia	ORPHA:85201
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias	ORPHA:2075
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal insufficiency, Dicarboxylic aciduria, Red-brown urine, Renal tubular epithelial necrosis, T...	ORPHA:228308
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis	ORPHA:1297
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, H...	ORPHA:93111
Lysosomal Acid Lipase Deficiency	Renal salt wasting, Abnormal urine potassium concentration, Dehydration, Hypernatriuria, Ascites	ORPHA:275761
Tuberous Sclerosis Complex	Renal insufficiency, Abnormality of the kidney, Respiratory tract infection, Chronic kidney disea...	ORPHA:805
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Polyhydramnios, Hydrops fetalis, Pulmonary hypoplasia, Polycystic kidney dysplasia, Micropenis	OMIM:616546
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Abnormal lung lobation, Hypercalciuria, Renal cyst, Nephrocalcinosis, Congenital megaureter, Abno...	ORPHA:369837
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla...	ORPHA:84081
Peroxisome Biogenesis Disorder 5A (Zellweger)	Death in infancy, Hypospadias, Palpebral edema, Renal cyst, Death in adolescence, Polycystic kidn...	OMIM:614866
Pyruvate Carboxylase Deficiency	Lacticaciduria, Dehydration	ORPHA:3008
Joubert Syndrome 2	Renal insufficiency, Renal cyst, Nephronophthisis	OMIM:608091
Tuberous Sclerosis 2	Absence of renal corticomedullary differentiation, Renal cyst, Renal cell carcinoma, Renal angiom...	OMIM:613254
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Hypospadias, Unilateral renal agenesis, Polyhydramnios, Renal cyst, Micropenis, Pelvic kidney, Hy...	ORPHA:464311
2P15P16.1 Microdeletion Syndrome	Recurrent respiratory infections, Multicystic kidney dysplasia, Hydronephrosis, Polyhydramnios	ORPHA:261349
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hyperechogenic kidneys, Polycystic kidney dysplasia	OMIM:617866
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ...	OMIM:194080
Thauvin-Robinet-Faivre Syndrome	Renal malrotation, Renal cyst, Pedal edema, Nephroblastoma, Bifid ureter, Renal dysplasia	OMIM:617107
Mpdu1-Cdg	Renal cortical cysts	ORPHA:79323
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Lacticaciduria, 3-Methylglutaric aciduria, Ethylmalonic aciduria, Polycystic k...	ORPHA:26791
Congenital Tufting Enteropathy	Dehydration	ORPHA:92050
Fryns Syndrome	Ureteral duplication, Hypospadias, Renal agenesis, Polyhydramnios, Renal cyst, Stillbirth, Chylot...	OMIM:229850
Joubert Syndrome 39	Polycystic kidney dysplasia	OMIM:619562
Phelan-Mcdermid Syndrome	Palpebral edema, Abnormality of the kidney, Lymphedema, Polycystic kidney dysplasia, Vesicoureter...	OMIM:606232
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi...	OMIM:600740
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Renal dysplasia, Renal cyst	OMIM:617260
Cornelia De Lange Syndrome 1	Hypospadias, Pneumonia, Proteinuria, Ectopic kidney, Abnormal renal morphology, Vesicoureteral re...	OMIM:122470
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Renal hypoplasia, Renal cyst, Vesicoureteral reflux, Hydronephrosis	OMIM:618460
Pagod Syndrome	Death in infancy, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Pulmonary artery hypopl...	ORPHA:991
Trisomy 20P	Hypospadias, Abnormality of the kidney, Abnormality of the ureter, Abnormal localization of kidne...	ORPHA:261318
Neuromuscular Oculoauditory Syndrome	Reduced renal corticomedullary differentiation, Multiple renal cysts	OMIM:618733
Autosomal Recessive Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Spontaneous pneumothorax, Pancreatic cys...	ORPHA:731
Arima Syndrome	Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R...	OMIM:243910
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos...	ORPHA:99880
Sacral Agenesis With Vertebral Anomalies	Neonatal death, Unilateral renal agenesis, Persistent cloaca	OMIM:615709
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Miscarriage, Renal salt wasting, Long penis, Dehydration, Elevated urinary epinephrine level, Hyp...	ORPHA:90794
2Q37 Microdeletion Syndrome	Multicystic kidney dysplasia, Nephroblastoma	ORPHA:1001
Joubert Syndrome 21	Hyperechogenic kidneys, Pulmonary hypoplasia, Renal cyst	OMIM:615636
Hyperchlorhidrosis, Isolated	Hypernatremic dehydration	OMIM:143860
D-Bifunctional Protein Deficiency	Polyhydramnios, Fetal ascites, Renal cyst	OMIM:261515
Parathyroid Carcinoma	Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos...	ORPHA:143
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Recurrent respiratory infections, Ureteral duplication, Edema, Pancreatic cysts, Stage 5 chronic ...	OMIM:266920
Mckusick-Kaufman Syndrome	Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Glandular hypospadias...	ORPHA:2473
Diarrhea 1, Secretory Chloride, Congenital	Polyhydramnios, Dehydration	OMIM:214700
Meacham Syndrome	Death in infancy, Partial anomalous pulmonary venous return, Horseshoe kidney, Cardiac total anom...	OMIM:608978
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Pancreatic cysts, Polycystic kidney dysplasia, Renal cyst	OMIM:610199
Developmental Delay With Or Without Dysmorphic Facies And Autism	Renal hypoplasia, Renal cyst, Microphallus, Vesicoureteral reflux, Hydronephrosis	OMIM:618454
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia	ORPHA:261197
Dyrk1A-Related Intellectual Disability Syndrome	Hypospadias, Unilateral renal agenesis, Renal cyst, Micropenis, Pelvic kidney, Hydronephrosis, Ol...	ORPHA:464306
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Polycystic kidney dysplasia, Ves...	ORPHA:2237
Marden-Walker Syndrome	Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia...	ORPHA:2461
Joubert Syndrome 1	Nephropathy, Renal cyst	OMIM:213300
Acrorenal-Mandibular Syndrome	Renal agenesis, Abnormality of the ureter, Aplasia of the bladder, Pulmonary hypoplasia, Polycyst...	OMIM:200980
Netherton Syndrome	Hypernatremic dehydration, Recurrent respiratory infections, Angioedema	OMIM:256500
Attenuated Familial Adenomatous Polyposis	Multiple renal cysts	ORPHA:220460
Microgastria-Limb Reduction Defect Syndrome	Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Abnormal lung lobation, H...	ORPHA:2538
Dend Syndrome	Dehydration	ORPHA:79134
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Horseshoe kidney, Aplasia/Hypoplasia of t...	ORPHA:2092
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia	OMIM:613091
Histiocytoid Cardiomyopathy	Polycystic ovaries, Renal cyst, Pulmonary edema	ORPHA:137675
Mosaic Variegated Aneuploidy Syndrome	Multicystic kidney dysplasia, Polyhydramnios, Increased nuchal translucency, Abnormal lung lobati...	ORPHA:1052
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Micropenis, Hydrops fetalis, Pulmonary hypoplasia, Polycystic kidney dysplasia	OMIM:263520
Joubert Syndrome With Hepatic Defect	Nephropathy, Multicystic kidney dysplasia, Renal insufficiency	ORPHA:1454
Multiple Endocrine Neoplasia Type 1	Hypercalciuria, Nephrolithiasis, Dehydration	ORPHA:652
Cutis Marmorata Telangiectatica Congenita	Displacement of the urethral meatus, Multicystic kidney dysplasia, Ascites	ORPHA:1556
Joubert Syndrome 5	Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Nephr...	OMIM:610188
15q26 overgrowth syndrome	Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys...	DECIPHER:81
Alternating Hemiplegia Of Childhood	Dehydration	ORPHA:2131
Alagille Syndrome 1	Duplicated collecting system, Multiple small medullary renal cysts, Stage 5 chronic kidney diseas...	OMIM:118450
Cerebrocostomandibular Syndrome	Death in infancy, Multicystic kidney dysplasia	ORPHA:1393
Caroli Disease	Ascites, Polycystic kidney dysplasia	ORPHA:53035
Smith-Lemli-Opitz Syndrome	Ureteropelvic junction obstruction, Duplicated collecting system, Death in infancy, Hypospadias, ...	OMIM:270400
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Vesicoureteral reflux, Polyhydramnios, Renal cortical cysts	OMIM:618548
Cerebrocostomandibular Syndrome	Polyhydramnios, Horseshoe kidney, Renal cyst, Ectopic kidney	OMIM:117650
Marburg Hemorrhagic Fever	Renal insufficiency, Dehydration	ORPHA:99826
Von Hippel-Lindau Disease	Elevated urinary catecholamine level, Pancreatic cysts, Macular edema, Renal cell carcinoma, Mult...	ORPHA:892
Cranioectodermal Dysplasia 2	Renal insufficiency, Polyhydramnios, Recurrent pneumonia, Hydrops fetalis, Renal cyst	OMIM:613610
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Recurrent respiratory infections, Renal insufficiency, Hypospadias, Renal cortical cysts, Hyperec...	ORPHA:397715
Hajdu-Cheney Syndrome	Hypospadias, Polycystic kidney dysplasia, Renal cyst	OMIM:102500
Smith-Lemli-Opitz Syndrome	Multicystic kidney dysplasia, Hypoplasia of penis, Hypospadias, Polyhydramnios, Renal hypoplasia/...	ORPHA:818
Schinzel-Giedion Syndrome	Hypospadias, Nephroblastoma, Recurrent pneumonia, Abnormality of the ureter, Nephrolithiasis, Ren...	ORPHA:798
C Syndrome	Renal cortical cysts	OMIM:211750
Autosomal Recessive Robinow Syndrome	Recurrent respiratory infections, Hypoplasia of penis, Multicystic kidney dysplasia, Death in inf...	ORPHA:1507
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Vesicoureteral reflux, Hypospadias, Renal cyst	OMIM:616975
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Hydrops fetalis, Pulmo...	ORPHA:93271
Syndromic Diarrhea	Polycystic kidney dysplasia, Renal hypoplasia, Peripheral pulmonary artery stenosis	ORPHA:84064
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter...	ORPHA:373
Floating-Harbor Syndrome	Hypospadias, Renal agenesis, Dilatation of the renal pelvis, Stage 5 chronic kidney disease, Rena...	ORPHA:2044
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Death in infancy, Renal hypoplasia, Renal cyst, Stillbirth, Polycystic kidney dysplasia, Death in...	OMIM:210710
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Death in infancy, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal age...	OMIM:308205
Osteopathia Striata With Cranial Sclerosis	Multicystic kidney dysplasia, Polyhydramnios, Oligohydramnios	OMIM:300373
Spondylocarpotarsal Synostosis Syndrome	Renal cyst	OMIM:272460
Distal Deletion 15Q	Multicystic kidney dysplasia, Hypospadias, Abnormal localization of kidney, Pulmonary hypoplasia,...	ORPHA:1596
Meckel Syndrome, Type 1	Hypoplasia of the bladder, Renal agenesis, Abnormality of the ureter, Pulmonary hypoplasia, Polyc...	OMIM:249000
Jacobsen Syndrome	Recurrent respiratory infections, Multicystic kidney dysplasia, Hydronephrosis, Death in infancy	ORPHA:2308
C Syndrome	Death in infancy, Multicystic kidney dysplasia, Polyhydramnios, Renal hypoplasia/aplasia, Horsesh...	ORPHA:1308
Ogden Syndrome	Global glomerulosclerosis, Lymphedema, Pulmonary artery stenosis, Oligohydramnios, Pulmonary hypo...	OMIM:300855
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Nephroblastoma, Bifid ureter, Enlarged kidney	ORPHA:500095
Meckel Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Pancreatic cysts, Urethral atresia, Oligohydr...	ORPHA:564
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Micropenis, Multicystic kidney dysplasia, Hydronephrosis, Hydromyelia	OMIM:615287
Beckwith-Wiedemann Syndrome	Nephrolithiasis, Renal cortical cysts, Nephrocalcinosis, Vesicoureteral reflux, Nephroblastoma, E...	OMIM:130650
Vipoma	Ascites, Dehydration	ORPHA:97282
Paternal Uniparental Disomy Of Chromosome 6	Dehydration, Oligohydramnios	ORPHA:96191
Orofaciodigital Syndrome I	Proteinuria, Pancreatic cysts, Ovarian cyst, Polycystic kidney dysplasia, Hepatic cysts	OMIM:311200
Distal Deletion 12Q	Ectopic kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Micropenis, Hydronephrosis	ORPHA:96149
Roberts Syndrome	Polyhydramnios, Long penis, Polycystic kidney dysplasia	ORPHA:3103
Ulbright-Hodes Syndrome	Abnormal penis morphology, Pneumothorax, Renal hypoplasia, Pulmonary hypoplasia, Polycystic kidne...	ORPHA:3404
Fraser Syndrome	Death in infancy, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Abnormal lung l...	ORPHA:2052
Orofaciodigital Syndrome Type 1	Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Pancreatic cysts, Hydronephrosis	ORPHA:2750
22Q11.2 Deletion Syndrome	Hypospadias, Polyhydramnios, Atelectasis, Abnormal lung lobation, Renal hypoplasia, Multiple rena...	ORPHA:567
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Hypospadias, Renal cyst	ORPHA:495875
Trisomy 10P	Multiple renal cysts, Abnormality of the kidney	ORPHA:171929
Hajdu-Cheney Syndrome	Recurrent respiratory infections, Multiple renal cysts, Hypospadias	ORPHA:955
Beckwith-Wiedemann Syndrome	Ureteral duplication, Polyhydramnios, Nephrolithiasis, Hypercalciuria, Congenital megaureter, Mul...	ORPHA:116
Caroli Syndrome	Abnormality of the kidney, Polycystic kidney dysplasia	ORPHA:480520
1P36 Deletion Syndrome	Aortic arch aneurysm, Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Renal cyst, Hy...	ORPHA:1606
Proteus Syndrome	Lymphedema, Enlarged polycystic ovaries, Long penis, Abnormal lung lobation, Renal cyst, Neoplasm...	ORPHA:744
Williams Syndrome	Hypoplasia of penis, Periorbital edema, Abnormal tubulointerstitial morphology, Nephrocalcinosis,...	ORPHA:904
Robinow Syndrome	Webbed penis, Micropenis, Multicystic kidney dysplasia, Hydronephrosis	ORPHA:97360
Peters Plus Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Polyhydramnios, Renal hypoplasia...	ORPHA:709
Simpson-Golabi-Behmel Syndrome, Type 1	Hypospadias, Polyhydramnios, Abnormal lung lobation, Renal cyst, Duplication of renal pelvis, Tot...	OMIM:312870
Tetrasomy 9P	Renal dysplasia, Recurrent urinary tract infections, Horseshoe kidney, Multiple renal cysts, Pulm...	ORPHA:3310
Genitopatellar Syndrome	Multicystic kidney dysplasia, Polyhydramnios, Pulmonary hypoplasia, Micropenis, Hydronephrosis	OMIM:606170
Femoral-Facial Syndrome	Micropenis, Abnormal renal collecting system morphology, Renal agenesis, Polycystic kidney dysplasia	OMIM:134780
Townes-Brocks Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Urethral valve, Abnormality of the kidney,...	ORPHA:857
Townes-Brocks Syndrome 1	Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Renal hypoplasia,...	OMIM:107480
Cornelia De Lange Syndrome	Renal insufficiency, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Increased nu...	ORPHA:199
Roberts-Sc Phocomelia Syndrome	Hypospadias, Polyhydramnios, Long penis, Horseshoe kidney, Stillbirth, Polycystic kidney dysplasia	OMIM:268300
Branchiooculofacial Syndrome	Renal agenesis, Hypospadias, Renal cyst	OMIM:113620
Pallister-Killian Syndrome	Edema of the dorsum of feet, Hypospadias, Polyhydramnios, Renal cyst, Stillbirth, Pulmonary hypop...	OMIM:601803
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Pulmonary hypoplasia, Vesicouretera...	OMIM:164210
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Pulmonary artery sling, Chordee,...	ORPHA:261537
Mowat-Wilson Syndrome	Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Pulmonary artery sling, Abnormal...	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Pulmonary artery sling, Duplicat...	ORPHA:261552
Pmm2-Cdg	Proteinuria, Lymphedema, Pericardial effusion, Nephrotic syndrome, Anasarca, Multiple renal cysts...	ORPHA:79318
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Recurrent respiratory infections, Renal insufficiency, Proteinuria, Abnormal pulmonary interstiti...	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^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Itga3^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us