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Gene: Ppil1 MGI:1916066

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Gene Summary

Name:
peptidylprolyl isomerase (cyclophilin)-like 1
Synonyms:
1110060O10Rik,  Cypl1

Order Alleles

IMPC Data Collections

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
embryonic lethality prior to organogenesis Ppil1em1(IMPC)Mbp HOM   E9.5 0.00
abnormal skin morphology Ppil1em1(IMPC)Mbp HET Early adult 0.00
increased circulating creatinine level Ppil1em1(IMPC)Mbp HET   Early adult 1.34×10-06
abnormal kidney morphology Ppil1em1(IMPC)Mbp HET Early adult 0.00
abnormal retina morphology Ppil1em1(IMPC)Mbp HET   Early adult 4.56×10-05
preweaning lethality, complete penetrance Ppil1em1(IMPC)Mbp HOM   Early adult 0.00
small spleen Ppil1em1(IMPC)Mbp HET Early adult 0.00
small kidney Ppil1em1(IMPC)Mbp HET Early adult 0.00
polycystic kidney Ppil1em1(IMPC)Mbp HET Early adult 0.00

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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.

Gross Morphology Embryo E9.5

Images

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Ppil1 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.

The table below shows human diseases associated to Ppil1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pontocerebellar Hypoplasia, Type 14
Death in infancy, Hypoplasia of the pons, Simplified gyral pattern, Agenesis of corpus callosum, ... OMIM:619301

The table below shows human diseases predicted to be associated to Ppil1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys, Hepatosplenomegaly, Reduced... OMIM:617610
Nephronophthisis 14
Polycystic kidney dysplasia, Retinal degeneration, Nephronophthisis OMIM:614844
Bardet-Biedl Syndrome 10
Renal cyst, Rod-cone dystrophy, Retinal dystrophy, Renal insufficiency OMIM:615987
RCAD (renal cysts and diabetes)
Abnormality of the liver, Multiple renal cysts DECIPHER:47
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Microscopic hematuria, Nephritis, Proteinuria, Sta... OMIM:161900
Polycystic Kidney Disease 7
Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insuffic... OMIM:620056
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Elevated circulating creatinine concentration, Increased blood urea ... OMIM:614817
Nephronophthisis 16
Enlarged kidney, Nephronophthisis, Periportal fibrosis, Polycystic kidney dysplasia, Cholestasis,... OMIM:615382
Hanac Syndrome
Hematuria, Retinal vascular tortuosity, Multiple renal cysts, Renal insufficiency ORPHA:73229
Renal Dysplasia, Cystic, Susceptibility To
Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal... OMIM:601331
Meckel Syndrome 13
Retinopathy, Polycystic kidney dysplasia OMIM:617562
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration, Jaundice, Hepatomegaly, Hypokalemia, Recurrent uri... OMIM:613095
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Hyperuricemia, Focal segmental glomerulosclerosis, Renal cyst, Chronic kidney disease, El... OMIM:617056
Hyperparathyroidism 2 With Jaw Tumors
Renal cortical adenoma, Pancreatic adenocarcinoma, Polycystic kidney dysplasia, Nephrolithiasis, ... OMIM:145001
C3 Glomerulopathy
Acute kidney injury, Elevated circulating creatinine concentration, Drusen, Hematuria, Yellow/whi... ORPHA:329918
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal cyst, Renal agenesis, Renal dysplasia, Retinal degeneration, Stage 5 c... OMIM:615993
Nephronophthisis 20
Nephronophthisis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, Renal insuff... OMIM:617271
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Polycystic kidney dysplasia, Hepatic cysts, Stage 5 chronic... OMIM:618061
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia, Increased circulating very long-chain fatty acid concentration, Hepa... OMIM:614859
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne... OMIM:263200
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Glomerular C3 deposition, Abnormal glomerular mesangium morphology, Nephroti... ORPHA:567544
Campomelia, Cumming Type
Polycystic kidney dysplasia, Pancreatic cysts, Polysplenia, Polycystic liver disease OMIM:211890
Hepatorenocardiac Degenerative Fibrosis
Enlarged kidney, Jaundice, Tubular luminal dilatation, Cirrhosis, Hepatocellular carcinoma, Renal... OMIM:619902
Senior-Loken Syndrome 1
Polyuria, Nephronophthisis, Elevated circulating creatinine concentration, Anemia, Retinal dystro... OMIM:266900
Adenine Phosphoribosyltransferase Deficiency
Hematuria, Nephrolithiasis, Urolithiasis, Oliguria, Elevated circulating creatinine concentration... OMIM:614723
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Renal dysplasia, Multicystic kidney dyspla... OMIM:617805
Hypouricemia, Renal, 1
Acute kidney injury, Renal tubular epithelial necrosis, Hypouricemia, Uric acid nephrolithiasis, ... OMIM:220150
Nephronophthisis-Like Nephropathy 2
Polyuria, Elevated circulating creatinine concentration, Tubular luminal dilatation, Periglomerul... OMIM:619468
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... OMIM:618270
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal salt wasting, Elevated circulating creatinine concentration, Anemia, Decreased glomerular f... OMIM:174000
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration, Nephropathy, Decreased glomerular filtration rate OMIM:242530
Papillorenal Syndrome
Elevated circulating creatinine concentration, Renal malrotation, Stage 5 chronic kidney disease,... OMIM:120330
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hepatic cysts OMIM:600666
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Retinal degeneration, Rod-cone dystrophy, Renal cyst OMIM:615982
Nephronophthisis 2
Hyperkalemia, Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Elevated c... OMIM:602088
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Hypocalcemia, Impaired urinary acidification, Nephrolithiasis, Nephrocalcinosis, Dis... OMIM:179800
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic s... OMIM:612925
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Splenomegaly, Stage 5 c... OMIM:208540
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts OMIM:173900
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anemia, Anuria, Increased blood urea n... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anemia, Anuria, Increased blood urea n... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anemia, Anuria, Increased blood urea n... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anemia, Anuria, Increased blood urea n... OMIM:612926
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Polycystic kidney dysplasia, Renal angiomyolipoma OMIM:600273
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin, Renal cyst, Polycystic liver disease OMIM:174050
Meckel Syndrome, Type 8
Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Medullary cystic kidney disease 2
Hyperuricemia, Enuresis, Renal tubular atrophy, Multiple renal cysts, Renal corticomedullary cyst... OMIM:603860
Coach Syndrome 2
Portal fibrosis, Hepatic fibrosis, Hyperechogenic kidneys, Chorioretinal coloboma, Congenital hep... OMIM:619111
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti... OMIM:312700
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Colpocephaly, Pachygyria OMIM:614870
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Acute kidney injury, Renal insufficiency, Hyperuricemia, Dysuria, Uric acid nephrolithiasis, Macr... ORPHA:79233
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Macrovesicular hepatic steatosis, Hepatomegaly, Long-chain... OMIM:608836
Carnitine Palmitoyltransferase Ii Deficiency
Renal tubular epithelial necrosis, Hepatomegaly, Myoglobinuria, Polycystic kidney dysplasia, Red-... ORPHA:157
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Jaundice, Hepatomegaly, Generalized aminoaciduria, Renal cortical cysts, Polyc... OMIM:231680
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Elevated circulating creatinine concentration, Hematuria, Decreased glomerular f... ORPHA:730
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal tubular epithelial necrosis, Dicarboxylic aciduria, Hepatic steatosis, Hepatomegaly, Myoglo... ORPHA:228308
Senior-Loken Syndrome 7
Retinal degeneration, Nephronophthisis OMIM:613615
Peroxisome Biogenesis Disorder 2A (Zellweger)
Optic nerve dysplasia, Jaundice, Hepatomegaly, Polycystic kidney dysplasia, Intrahepatic biliary ... OMIM:214110
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal insufficiency, Elevated circulating creatine kinase concentration, Renal cyst, R... OMIM:611773
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Polycystic kidney dysplasia, Splenomegaly, Hypoalbuminemia, Hypocholesterolemia OMIM:608776
Isolated Polycystic Liver Disease
Hepatomegaly, Polycystic liver disease, Increased total bilirubin, Multiple renal cysts, Abnormal... ORPHA:2924
Renal Coloboma Syndrome
Optic nerve dysplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Retinal coloboma, Ren... ORPHA:1475
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Abnormal cortical gyration, Polymicrogyria, Microcephaly, Neonatal death, Aplasia/Hypoplasia of t... OMIM:619602
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Hematuria, Reticulocytosis, Decreased serum creatinine, Thrombocytopenia, Pr... ORPHA:54057
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Renal dysplasia, Multicy... ORPHA:3032
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Chronic tubulointerstitial nephritis, Elevated circulating creatinine concentration, Hepatomegaly... OMIM:614376
Caroli Disease
Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a... ORPHA:53035
Lissencephaly 7 With Cerebellar Hypoplasia
Agyria, Death in infancy, Microcephaly, Neonatal death, Agenesis of corpus callosum, Cerebellar h... OMIM:616342
Nephronophthisis 9
Polyuria, Nephronophthisis, Anemia, Renal cortical microcysts, Retinal degeneration, Stage 5 chro... OMIM:613824
Oligomeganephronia
Abnormal nephron morphology, Elevated circulating creatinine concentration, Decreased glomerular ... ORPHA:2260
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Anemia, Hyperuricemia, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hyp... OMIM:613092
Joubert Syndrome 16
Renal cyst, Nephronophthisis, Retinal dystrophy OMIM:614465
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Hepatomegaly, Decreased circulating carnitine concentration, Polycystic kidney... ORPHA:26791
Caroli Syndrome
Abnormality of the kidney, Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Pancreatit... ORPHA:480520
Coenzyme Q10 Deficiency, Primary, 8
Renal dysplasia, Elevated circulating creatinine concentration, Abnormal renal corticomedullary d... OMIM:616733
Preeclampsia
Abnormality of the kidney, Acute kidney injury, Elevated circulating creatinine concentration, Ab... ORPHA:275555
Cryoglobulinemia, Familial Mixed
Hematuria, Abnormal renal physiology, Proteinuria, Chronic kidney disease, Elevated circulating c... OMIM:123550
Femoral-Facial Syndrome
Polycystic kidney dysplasia, Abnormal localization of kidney, Renal hypoplasia/aplasia, Long penis ORPHA:1988
Rhyns Syndrome
Abnormality of the liver, Nephronophthisis, Rod-cone dystrophy, Multicystic kidney dysplasia ORPHA:140976
Osteopetrosis, Autosomal Recessive 9
Hyperkalemia, Stage 3 chronic kidney disease, Anemia, Papilledema, Elevated circulating creatinin... OMIM:620366
Fanconi Renotubular Syndrome 3
Low-molecular-weight proteinuria, Glycosuria, Hyperphosphaturia, Elevated circulating creatinine ... OMIM:615605
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Pancytopenia, Increased blood urea nitrogen, Elevated circulating creatinine concen... OMIM:617872
Arima Syndrome
Optic atrophy, Polyuria, Cirrhosis, Nephronophthisis, Hematuria, Hepatomegaly, Retinal dystrophy,... OMIM:243910
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
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Splenic cyst, Increased circulating thyroglobulin concentration, Polycystic kidney ... OMIM:610199
Hereditary Amyloidosis With Primary Renal Involvement
Renal interstitial amyloid deposits, Decreased HDL cholesterol concentration, Hepatomegaly, Anemi... ORPHA:85450
Peroxisome Biogenesis Disorder 5A (Zellweger)
Optic nerve dysplasia, Optic atrophy, Increased circulating very long-chain fatty acid concentrat... OMIM:614866
Joubert Syndrome 20
Retinopathy, Renal cyst OMIM:614970
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Nephropathy, Multicystic kidney dysplasia, Renal insufficiency ORPHA:1909
Gillessen-Kaesbach-Nishimura Syndrome
Polycystic kidney dysplasia, Periportal fibrosis OMIM:263210
Autosomal Recessive Polycystic Kidney Disease
Enlarged kidney, Cholestasis, Biliary hyperplasia, Splenomegaly, Abnormal intrahepatic bile duct ... ORPHA:731
Renal Cysts And Diabetes Syndrome
Abnormality of the kidney, Elevated circulating creatinine concentration, Multiple glomerular cys... OMIM:137920
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Reduced blood urea nitrogen, Hyposthenuria, Decreased circulating renin level, Decreased serum cr... OMIM:300539
Relapsing Fever
Acute kidney injury, Jaundice, Hematuria, Anemia, Elevated circulating C-reactive protein concent... ORPHA:91547
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Renal Tubular Dysgenesis
Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts, Nephropathy ORPHA:3033
Thrombotic Thrombocytopenic Purpura, Hereditary
Jaundice, Hemolytic-uremic syndrome, Reticulocytosis, Microscopic hematuria, Increased blood urea... OMIM:274150
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemic seizures, Unilateral renal agenesis, Renal insufficiency, Hypocalcemia, Polycystic k... ORPHA:2237
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Polycystic kidney dysplasia, Renal cyst, Renal hypoplasia, Hepatic fibrosis OMIM:614091
Bardet-Biedl Syndrome 6
Renal cyst, Rod-cone dystrophy, Hypospadias, Pigmentary retinopathy OMIM:605231
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3316
Odontochondrodysplasia 1
Polycystic kidney dysplasia, Nephronophthisis OMIM:184260
Renal Tubular Acidosis, Proximal
Hypercalciuria, Elevated circulating creatinine concentration, Proximal renal tubular acidosis OMIM:179830
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Renal cyst, Polycystic liver disease OMIM:109130
Trisomy 17P
Hypoplasia of penis, Polycystic kidney dysplasia, Urethral valve, Hydronephrosis, Urethral stenosis ORPHA:261290
Branchiootorenal Syndrome 1
Renal steatosis, Abnormal renal collecting system morphology, Unilateral renal agenesis, Polycyst... OMIM:113650
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration, Abnormal retinal morphology OMIM:219750
Joubert Syndrome 39
Polycystic kidney dysplasia, Retinal dystrophy OMIM:619562
Distal Triplication 15Q
Abnormality of the kidney, Polycystic kidney dysplasia, Hydronephrosis, Nephroblastoma, Dilatatio... ORPHA:314588
Bardet-Biedl Syndrome 17
Polyuria, Bone spicule pigmentation of the retina, Renal cyst, Cone/cone-rod dystrophy, Micropeni... OMIM:615994
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cystic renal dysplasia, Ectopic kidney, Optic disc pallor, Hepatomegaly OMIM:613730
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Hemolytic-uremic syndrome, Anuria, Hyperlipidemia, Reticulocytosis, Increase... OMIM:235400
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Hemolytic-uremic syndrome, Reduced haptoglobin level, Anemia, Schistocytosis, Lymphopenia, Hypere... OMIM:301110
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Glomerular sclerosis, Retinal neovascularization, Normochromic anemia, Retinal... ORPHA:247691
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Aapoaiv Amyloidosis
Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Glomerular sclerosis, Hyp... ORPHA:439232
Syndromic Diarrhea
Cirrhosis, Abnormality of iron homeostasis, Hepatomegaly, Polycystic kidney dysplasia, Hypoplasia... ORPHA:84064
Alagille Syndrome 2
Cholestatic liver disease, Hematuria, Renal tubular acidosis, Cholestasis, Renal cyst, Renal hypo... OMIM:610205
Renal Dysplasia
Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Ure... ORPHA:93108
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypocystinemia, Hypohomocysteinemia OMIM:617744
Coach Syndrome 1
Cirrhosis, Nephronophthisis, Hepatomegaly, Unilateral renal agenesis, Intrahepatic bile duct dila... OMIM:216360
Diffuse Alveolar Hemorrhage
Anemia, Hematuria, Leukocytosis, Thrombocytopenia, Proteinuria, Elevated circulating creatinine c... ORPHA:90060
Joubert Syndrome 7
Stage 5 chronic kidney disease, Nephronophthisis, Renal cyst, Retinal dystrophy OMIM:611560
Congenital Bile Acid Synthesis Defect Type 2
Jaundice, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Cholestasis, Abnormal serum bil... ORPHA:79303
Igg4-Related Retroperitoneal Fibrosis
Acute kidney injury, Renal tubular epithelial necrosis, Normocytic anemia, Hematuria, Elevated ci... ORPHA:49041
Nephronophthisis 3
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Hepatic fibr... OMIM:604387
Nephronophthisis 11
Polyuria, Nephronophthisis, Anemia, Tubular basement membrane disintegration, Hepatic fibrosis, R... OMIM:613550
Peroxisome Biogenesis Disorder 1B
Optic atrophy, Cirrhosis, Hepatomegaly, Hyperoxaluria, Renal cyst, Hepatic fibrosis, Rod-cone dys... OMIM:601539
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:617866
Renal Hypoplasia, Bilateral
Hyperkalemia, Anemia, Decreased glomerular filtration rate, Vesicoureteral reflux, Beta 2-microgl... ORPHA:97362
Tuberous Sclerosis Complex
Retinal hamartoma, Abnormality of the kidney, Polycystic kidney dysplasia, Renal cell carcinoma, ... ORPHA:805
Genitopalatocardiac Syndrome
Hypospadias, Renal cyst OMIM:231060
Multiple Myeloma
Acute kidney injury, Anemia, Lymphadenopathy, Abnormality of the bladder, Nephrotic syndrome, Hyp... ORPHA:29073
Joubert Syndrome 35
Recurrent urinary tract infections, Renal fibrosis, Hydronephrosis, Rod-cone dystrophy, Multicyst... OMIM:618161
Juvenile Nephropathic Cystinosis
Low-molecular-weight proteinuria, Elevated circulating creatinine concentration, Renal phosphate ... ORPHA:411634
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Lymphangiectasis, Hepatomegaly, Proximal tubulopathy, Renal cyst, Hypoalbuminemia, Hep... OMIM:602579
Sickle Cell Anemia
Jaundice, Chronic hemolytic anemia, Iron deficiency anemia, Cholelithiasis, Increased mean corpus... ORPHA:232
Igg4-Related Kidney Disease
Enlarged kidney, Sclerosing cholangitis, Elevated circulating creatinine concentration, Cholecyst... ORPHA:449395
Pauci-Immune Glomerulonephritis
Acute kidney injury, Pancreatitis, Decreased glomerular filtration rate, Glomerular sclerosis, Ne... ORPHA:93126
46,Xy Sex Reversal 4
Increased blood urea nitrogen, Ureteropelvic junction obstruction, Hydronephrosis, Renal dysplasi... OMIM:154230
Phelan-Mcdermid Syndrome
Abnormality of the kidney, Vesicoureteral reflux, Polycystic kidney dysplasia OMIM:606232
Mody
Abnormality of the kidney, Hepatocellular adenoma, Abnormal circulating C-peptide concentration, ... ORPHA:552
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas... OMIM:620138
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Anemia, Cholestasis, Thrombocytopenia, Hypoalbuminemia, Elevated circulating creati... OMIM:608104
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypertriglyceridemia, Increased circulating ferritin concentration, Impaired lymphocyte transform... OMIM:619313
Hypomagnesemia 3, Renal
Nephrocalcinosis, Macroscopic hematuria, Stage 5 chronic kidney disease, Elevated circulating cre... OMIM:248250
Cystic Echinococcosis
Cholestatic liver disease, Jaundice, Hepatomegaly, Abnormal peritoneum morphology, Splenic cyst, ... ORPHA:400
Nephronophthisis 4
Polyuria, Nephronophthisis, Anemia, Tubulointerstitial fibrosis, Renal tubular atrophy, Stage 5 c... OMIM:606966
Nephronophthisis 1
Polyuria, Nephronophthisis, Anemia, Hyposthenuria, Tubular basement membrane disintegration, Tubu... OMIM:256100
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Polycystic kidney dysplasia, Enlarged kidney, Micropenis OMIM:613091
Joubert Syndrome 18
Intrahepatic biliary atresia, Horseshoe kidney, Renal cyst OMIM:614815
Peroxisome Biogenesis Disorder 11A (Zellweger)
Multiple renal cysts, Renal cyst OMIM:614883
Epidermal Nevus Syndrome
Polycystic kidney dysplasia ORPHA:35125
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration OMIM:612736
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal tubular epithelial necrosis, Decreased glomerular filtration rate, Normochromic anemia, Cys... ORPHA:91500
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Retinal dystrophy, Polycystic kidney dysplasia, Hepatic fibrosis, Pancreatic fibrosis, Micropenis OMIM:263520
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polycystic kidney dysplasia, Micropenis, Retinal coloboma OMIM:616546
Stormorken Syndrome
Anemia, Hematuria, Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asple... OMIM:185070
Meckel Syndrome 14
Polycystic kidney dysplasia, Hepatic fibrosis OMIM:619879
Say Syndrome
Cystic renal dysplasia, Proximal renal tubular acidosis OMIM:181180
Senior-Boichis Syndrome
Tubular luminal dilatation, Cholestasis, Abnormal renal insterstitial morphology, Stage 5 chronic... ORPHA:84081
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen, Abnormal retinal morphology ORPHA:89844
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Pancreatitis, Hypokalemia, Anuria, Leukocytosis, Unconjugated hyperbilirubin... ORPHA:90038
Meckel Syndrome, Type 1
Accessory spleen, Polycystic kidney dysplasia, Abnormality of the ureter, Renal agenesis, Aspleni... OMIM:249000
Peroxisome Biogenesis Disorder 4A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Hepatomegaly, Renal cyst OMIM:614862
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Renal hypoplasia/aplasia, Multiple renal cysts, Vesicoureteral reflux ORPHA:1166
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Renal cell carcinoma, Renal cyst OMIM:135150
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Hepatomegaly, Cholestasis, Asplenia, Hepatic cysts, Hepatic fibrosis, Malformati... OMIM:615415
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Elevated circulating creatinine concentration, Hyperbilirubinemia, Decreased... ORPHA:542323
22Q11.2 Deletion Syndrome
Optic atrophy, Hypospadias, Cholelithiasis, Hypocalcemia, Polycystic kidney dysplasia, Abnormalit... ORPHA:567
Fanconi Anemia, Complementation Group O
Stage 5 chronic kidney disease, Hydronephrosis, Renal cyst OMIM:613390
Gracile Bone Dysplasia
Hypocalcemia, Hypoplastic spleen, Micropenis, Asplenia OMIM:602361
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Renal cyst, Abnormality of the ureter, Hydronephrosis, Abnormality of t... ORPHA:1834
Alport Syndrome 3A, Autosomal Dominant
Hematuria, Azotemia, Nephrotic syndrome, Microscopic hematuria, Thickened glomerular basement mem... OMIM:104200
15q26 overgrowth syndrome
Abnormality of the kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Renal agenesis, Hy... DECIPHER:81
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Multicystic kidney dysplasia, Chorioretinal coloboma, Renal cyst, Congenital hepatic fibrosis ORPHA:2031
Diaphanospondylodysostosis
Multiple renal cysts ORPHA:66637
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Acute kidney injury, Glomerulopathy, Jaundice, Abnormality of endocrine pancreas physiology, Hypo... ORPHA:93111
Meckel Syndrome, Type 3
Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Multicystic kidney dysplasia, Malformati... OMIM:607361
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Renal tubular acidosis, Renal cyst, Renal hypoplasia, Renal dysplasia, Hepatic stea... OMIM:614922
Mckusick-Kaufman Syndrome
Polycystic kidney dysplasia, Hydronephrosis, Hydroureter, Vesicovaginal fistula OMIM:236700
Orofaciodigital Syndrome I
Polycystic kidney dysplasia, Ovarian cyst, Proteinuria, Hepatic cysts, Hepatic fibrosis, Pancreat... OMIM:311200
Congenital Disorder Of Glycosylation, Type Iit
Decreased HDL cholesterol concentration, Urinary incontinence, Iron deficiency anemia, Hypotrigly... OMIM:618885
Distal Deletion 12Q
Annular pancreas, Ectopic kidney, Biliary atresia, Polycystic kidney dysplasia, Vesicoureteral re... ORPHA:96149
Bacterial Toxic-Shock Syndrome
Increased circulating metamyelocyte count, Hypocalcemia, Recurrent urinary tract infections, Incr... ORPHA:36234
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Abnormal renal phys... OMIM:223900
Verheij Syndrome
Renal agenesis, Optic nerve hypoplasia, Renal hypoplasia, Renal cyst OMIM:615583
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal dysplasia, Renal hypoplasia, Ureteral agenesis, Renal cyst OMIM:236500
Prune Belly Syndrome
Hydroureter, Renal insufficiency, Abnormality of the bladder, Recurrent urinary tract infections,... ORPHA:2970
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Reduced hematocrit, Lymphadenopathy, Elevated circ... ORPHA:79126
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Jaundice, Pancreatic cysts, Hepatic fibrosis, Renal cyst, Polycystic liver disease, Bile duct pro... OMIM:208500
Pearson Syndrome
Reticulocytosis, Bone marrow hypocellularity, Hypophosphatemia, Splenomegaly, Pancreatic fibrosis... ORPHA:699
Dopamine Beta-Hydroxylase Deficiency
Anemia, Elevated urinary dopamine level, Increased blood urea nitrogen, Nocturia, Elevated circul... ORPHA:230
Polysyndactyly With Cardiac Malformation
Hepatic cysts, Renal cyst OMIM:263630
Acrorenal-Mandibular Syndrome
Renal agenesis, Polycystic kidney dysplasia, Aplasia of the bladder, Abnormality of the ureter OMIM:200980
Ogden Syndrome
Enlarged kidney, Jaundice, Macrovesicular hepatic steatosis, Iron deficiency anemia, Polycystic k... OMIM:300855
Meckel Syndrome, Type 7
Multiple glomerular cysts, Multicystic kidney dysplasia, Cholestasis, Biliary cirrhosis, Portal h... OMIM:267010
Intellectual Developmental Disorder, X-Linked 112
Ectopic kidney, Hypospadias, Horseshoe kidney, Enuresis nocturna, Vesicoureteral reflux, Enuresis... OMIM:301111
Nephronophthisis-Like Nephropathy 1
Nephronophthisis, Chronic pancreatitis, Tubular basement membrane disintegration, Renal tubular a... OMIM:613159
Mirage Syndrome
Hyperkalemia, Anemia, Hypospadias, Recurrent urinary tract infections, Microphallus, Hyponatremia... OMIM:617053
Meckel Syndrome, Type 10
Malformation of the hepatic ductal plate, Micropenis, Hypospadias, Renal cyst OMIM:614175
Meckel Syndrome, Type 5
Renal cyst, Bile duct proliferation OMIM:611561
3-Methylglutaconic Aciduria Type 7
3-Methylglutaconic aciduria, Infection associated neutropenia, Renal cyst, Bone marrow hypocellul... ORPHA:445038
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration, Renal insufficiency, Renal cyst OMIM:617478
Kaposiform Lymphangiomatosis
Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma... ORPHA:464329
Bardet-Biedl Syndrome 12
Hydroureter, Hydronephrosis, Rod-cone dystrophy, Cystic renal dysplasia OMIM:615989
Hajdu-Cheney Syndrome
Polycystic kidney dysplasia, Hypospadias, Renal cyst OMIM:102500
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Pancreatitis, Hypocalciuria, Parathormone-independent increased renal tubular ca... OMIM:600740
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Acute kidney injury, Hematuria, Decreased glomerular filtration rate, Acute tubuloi... ORPHA:340
Meckel Syndrome, Type 6
Aplasia of the bladder, Renal cyst, Bile duct proliferation, Cystic liver disease, Absent gallbla... OMIM:612284
Trisomy X
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3375
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Retinal degeneration, Rod-cone dystrophy, Horseshoe kidney, Renal cyst ORPHA:166035
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Renal cyst, Retinal degeneration, Rod-cone dystrophy, Horseshoe kidney, Hypoautofluorescent retin... OMIM:250410
Bor Syndrome
Renal hypoplasia/aplasia, Renal insufficiency, Vesicoureteral reflux, Ureteropelvic junction obst... ORPHA:107
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Floating-Harbor Syndrome
Hypospadias, Polycystic kidney dysplasia, Renal cyst, Renal agenesis, Nephrocalcinosis, Hydroneph... ORPHA:2044
Microphthalmia, Syndromic 9
Multilobulated spleen, Pelvic kidney, Renal hypoplasia, Hydronephrosis, Hypoplastic spleen, Renal... OMIM:601186
Distal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Hypocitraturia, Decreased glomerular filtration rate, Hypokalem... ORPHA:18
Joubert Syndrome With Hepatic Defect
Cirrhosis, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, Intrahepatic biliary ... ORPHA:1454
Joubert Syndrome 1
Retinal dystrophy, Retinal dysplasia, Renal cyst, Chorioretinal coloboma, Optic disc coloboma, He... OMIM:213300
Trisomy 13
Optic atrophy, Abnormality of the ureter, Hydronephrosis, Displacement of the urethral meatus, Mu... ORPHA:3378
Roberts Syndrome
Polycystic kidney dysplasia, Thrombocytopenia, Long penis ORPHA:3103
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Polycystic kidney dysplasia, Hyperbilirubinemia, Renal cyst, Renal hypoplasia, Prolonged neonatal... OMIM:210710
Peutz-Jeghers Syndrome
Abnormality of the gallbladder, Anemia, Renal cell carcinoma, Enlarged polycystic ovaries, Abnorm... ORPHA:2869
Alveolar Echinococcosis
Jaundice, Anemia, Cholangitis, Liver abscess, Abnormal bladder morphology, Abnormal spleen morpho... ORPHA:284
Neuromuscular Oculoauditory Syndrome
Elevated circulating creatine kinase concentration, Chorioretinal lacunae, Multiple renal cysts, ... OMIM:618733
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Renal hypoplasia/aplasia, Hydroureter, Urogenital sinus anomaly, Hydronephrosis, Displacement of ... ORPHA:2973
Congenital Disorder Of Glycosylation, Type Ia
Hepatic steatosis, Hepatomegaly, Proximal tubulopathy, Hepatic fibrosis, Renal cyst, Nephrotic sy... OMIM:212065
Multicystic Dysplastic Kidney
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... ORPHA:1851
Meckel Syndrome, Type 2
Renal cyst, Bile duct proliferation OMIM:603194
Transketolase Deficiency
Elevated circulating ribitol concentration, Hepatomegaly, Renal cyst, Increased level of ribose i... ORPHA:488618
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hydroureter, Hypercalciuria, Renal cyst, Ureteral stenosis, Nephrocalcinosis OMIM:615398
Joubert Syndrome 2
Nephronophthisis, Retinal dystrophy, Renal cyst, Chorioretinal coloboma, Optic disc coloboma, Ren... OMIM:608091
Campomelia, Cumming Type
Hepatomegaly, Multicystic kidney dysplasia, Multiple renal cysts, Pancreatic cysts, Abnormality o... ORPHA:1318
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Acute kidney injury, Ureteral duplication, Nephronophthisis, Cholangitis, Retinal dystrophy, Anem... OMIM:266920
Von Hippel-Lindau Syndrome
Hepatic hemangioma, Neoplasm of the pancreas, Retinal capillary hemangioma, Renal cell carcinoma,... OMIM:193300
Zellweger Syndrome
Abnormal chorioretinal morphology, Optic atrophy, Jaundice, Hepatomegaly, Hypospadias, Hydronephr... ORPHA:912
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Optic atrophy, Renal agenesis, Increased urine alpha-ketoglutarate concentration, Cystic renal dy... OMIM:220500
Joubert Syndrome 21
Optic atrophy, Megalopapilla, Renal cyst, Retinopathy, Hyperechogenic kidneys, Splenomegaly OMIM:615636
Joubert Syndrome 14
Optic atrophy, Renal cyst, Morning glory anomaly OMIM:614424
Diaphanospondylodysostosis
Enlarged kidney, Abnormal liver lobulation, Nephroblastomatosis, Nephrogenic rest, Horseshoe kidn... OMIM:608022
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Anemia, Vesicoureteral reflux, Renal cyst, Renal hypoplasia, Hydronephrosis... OMIM:618460
Vacterl/Vater Association
Abnormality of the gallbladder, Ectopic kidney, Hypospadias, Hypoplasia of penis, Renal agenesis,... ORPHA:887
Marburg Hemorrhagic Fever
Jaundice, Pancreatitis, Lymphadenopathy, Hypokalemia, Neutrophilia in presence of infection, Hype... ORPHA:99826
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatitis, Hypercalciuria, Renal hamartoma, Nephrolithiasis, Renal cyst, Nephrocalcinosis, Hyp... ORPHA:99880
17Q12 Microdeletion Syndrome
Renal hypoplasia/aplasia, Renal insufficiency, Pancreatic aplasia, Ureterocele, Multicystic kidne... ORPHA:261265
Familial Adenomatous Polyposis 4
Ovarian cyst, Renal cyst OMIM:617100
Von Hippel-Lindau Disease
Elevated urinary catecholamine level, Neoplasm of the pancreas, Retinal detachment, Retinal capil... ORPHA:892
Meckel Syndrome, Type 4
Renal cyst, Bile duct proliferation OMIM:611134
Immunodeficiency 96
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells, Multicystic kidne... OMIM:619774
Braddock-Carey Syndrome 1
Thrombocytopenia, Multicystic kidney dysplasia OMIM:619980
Parathyroid Carcinoma
Pancreatitis, Hypercalciuria, Renal hamartoma, Nephrolithiasis, Renal cyst, Nephrocalcinosis, Hyp... ORPHA:143
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Hepatomegaly, Polysplenia, Hepatic fibrosis, Pancreatic fibrosis, Cystic renal d... OMIM:200995
Atelosteogenesis Type I
Abnormal pancreatic duct morphology, Multiple renal cysts, Retinal dysplasia ORPHA:1190
Fliedner-Zweier Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Unilateral renal agenesis OMIM:620511
Tuberous Sclerosis 2
Retinal hamartoma, Renal cell carcinoma, Renal cyst, Renal angiomyolipoma, Achromatic retinal pat... OMIM:613254
Cardiogenic Shock
Oliguria, Elevated circulating creatinine concentration, Hepatomegaly ORPHA:97292
Mayer-Rokitansky-Kuster-Hauser Syndrome
Renal cyst, Reduced renal corticomedullary differentiation, Polycystic ovaries, Multicystic kidne... OMIM:277000
Yellow Fever
Acute kidney injury, Jaundice, Hyperbilirubinemia, Anuria, Acute pancreatitis, Elevated circulati... ORPHA:99829
Lymphangioleiomyomatosis
Optic atrophy, Retinal hamartoma, Renal neoplasm, Hematuria, Lymphadenopathy, Abnormality of the ... ORPHA:538
Femoral-Facial Syndrome
Renal agenesis, Polycystic kidney dysplasia, Abnormal renal collecting system morphology, Micropenis OMIM:134780
Alagille Syndrome 1
Hypertriglyceridemia, Cirrhosis, Duplicated collecting system, Renal tubular acidosis, Chorioreti... OMIM:118450
Tuberous Sclerosis 1
Renal cell carcinoma, Renal cyst, Achromatic retinal patches, Pulmonary lymphangiomyomatosis, Ren... OMIM:191100
Genitopalatocardiac Syndrome
Abnormal mesentery morphology, Abnormality of the gallbladder, Multicystic kidney dysplasia, Hypo... ORPHA:2075
Thauvin-Robinet-Faivre Syndrome
Renal cyst, Retinal coloboma, Transient neutropenia, Bifid ureter, Renal dysplasia, Renal malrota... OMIM:617107
Severe Generalized Junctional Epidermolysis Bullosa
Renal tubular epithelial necrosis, Hydroureter, Anemia, Duplicated collecting system, Abnormality... ORPHA:79404
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Recurrent urinary tract infections, Renal cyst, Renal hypoplasia, Hydr... OMIM:614527
Kleefstra Syndrome
Hypospadias, Hypoplasia of penis, Vesicoureteral reflux, Renal cyst, Hydronephrosis, Micropenis, ... ORPHA:261494
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia OMIM:618829
Ciliary Dyskinesia, Primary, 53
Hypoplastic spleen, Polysplenia, Abdominal situs inversus OMIM:620642
D-Bifunctional Protein Deficiency
Increased circulating very long-chain fatty acid concentration, Hepatomegaly, Cholestasis, Renal ... OMIM:261515
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Fetal megacystis, Multicystic kidney dysplasia ORPHA:73246
Cornelia De Lange Syndrome 1
Optic atrophy, Ectopic kidney, Hypospadias, Abnormal renal morphology, Vesicoureteral reflux, Ren... OMIM:122470
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Unilateral renal agenesis, Retinal detachment, Pelvic kidney, Renal cyst, Hydronephr... ORPHA:464311
Biliary, Renal, Neurologic, And Skeletal Syndrome
Intrahepatic bile duct dilatation, Cholestasis, Biliary cirrhosis, Prolonged neonatal jaundice, D... OMIM:619534
Mosaic Variegated Aneuploidy Syndrome 1
Hypospadias, Multicystic kidney dysplasia, Renal cyst, Nephroblastoma, Micropenis, Leukemia OMIM:257300
Joubert Syndrome 5
Nephronophthisis, Renal cortical cysts, Impaired renal concentrating ability, Retinal coloboma, R... OMIM:610188
Mosaic Trisomy 1
Renal cortical cysts, Renal cyst, Hepatic agenesis, Penile hypospadias, Micropenis ORPHA:1692
Ulbright-Hodes Syndrome
Polycystic kidney dysplasia, Abnormal penis morphology, Renal hypoplasia ORPHA:3404
Mosaic Trisomy 9
Abnormal liver lobulation, Hypoplasia of penis, Asplenia, Hydronephrosis, Multiple renal cysts, R... ORPHA:99776
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Renal cyst ORPHA:480536
Harrod Syndrome
Multicystic kidney dysplasia, Hypospadias ORPHA:2115
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Congenital megaureter, Hypercalciuria, Renal cyst, Nephrocalcinosis, Hyperc... ORPHA:369837
Trisomy 1Q
Hydronephrosis, Multicystic kidney dysplasia, Congenital megaureter ORPHA:261344
Developmental Delay With Or Without Dysmorphic Facies And Autism
Vesicoureteral reflux, Renal cyst, Microphallus, Renal hypoplasia, Hydronephrosis, Optic disc col... OMIM:618454
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Multicystic kidney dysplasia, Septo-optic dysplasia ORPHA:3301
Roberts-Sc Phocomelia Syndrome
Hypospadias, Long penis, Accessory spleen, Polycystic kidney dysplasia, Biliary tract abnormality... OMIM:268300
Meckel Syndrome
Abnormal chorioretinal morphology, Optic atrophy, Ureteral duplication, Accessory spleen, Pancrea... ORPHA:564
Pontocerebellar Hypoplasia, Type 14
Death in infancy, Hypoplasia of the pons, Simplified gyral pattern, Agenesis of corpus callosum, ... OMIM:619301
Trisomy 20P
Abnormality of the kidney, Hypospadias, Abnormality of the ureter, Hydronephrosis, Multiple renal... ORPHA:261318
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Renal cyst OMIM:615560
Branchio-Oculo-Facial Syndrome
Renal agenesis, Hydronephrosis, Multicystic kidney dysplasia ORPHA:1297
Pallister-Hall Syndrome
Hydroureter, Ectopic kidney, Renal cyst, Distal urethral duplication, Renal hypoplasia, Hydroneph... OMIM:146510
2P15P16.1 Microdeletion Syndrome
Optic atrophy, Optic nerve hypoplasia, Hydronephrosis, Multicystic kidney dysplasia ORPHA:261349
Microgastria-Limb Reduction Defect Syndrome
Renal hypoplasia/aplasia, Hepatomegaly, Renal agenesis, Crossed fused renal ectopia, Abnormality ... ORPHA:2538
Radio-Renal Syndrome
Renal dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3015
Penile Agenesis
Hydroureter, Abnormality of the bladder, Bilateral renal agenesis, Absent penis, Hydronephrosis, ... ORPHA:49
Marden-Walker Syndrome
Epispadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Abnorm... ORPHA:2461
Cranioectodermal Dysplasia 2
Hepatomegaly, Portal fibrosis, Cholangitis, Hyperbilirubinemia, Cholestasis, Biliary cirrhosis, R... OMIM:613610
Dyrk1A-Related Intellectual Disability Syndrome
Hypospadias, Unilateral renal agenesis, Pelvic kidney, Renal cyst, Hydronephrosis, Micropenis, Op... ORPHA:464306
Smith-Lemli-Opitz Syndrome
Cholestatic liver disease, Cirrhosis, Hepatic steatosis, Penoscrotal hypospadias, Unilateral rena... OMIM:270400
2Q37 Microdeletion Syndrome
Nephroblastoma, Multicystic kidney dysplasia ORPHA:1001
Mckusick-Kaufman Syndrome
Renal hypoplasia/aplasia, Glandular hypospadias, Urogenital sinus anomaly, Hydronephrosis, Urethr... ORPHA:2473
Oculocerebrorenal Syndrome Of Lowe
Abnormal renal tubule morphology, Glomerulopathy, Hematuria, Hypercholesterolemia, Hypokalemia, A... ORPHA:534
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Enlarged kidney, Chronic neutropenia, Retinal coloboma, Transient neutropenia, Bifid ureter, Neph... ORPHA:500095
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Renal dysplasia, Renal cyst OMIM:617260
Beckwith-Wiedemann Syndrome
Enlarged kidney, Ureteral duplication, Hepatomegaly, Abnormal pancreas morphology, Congenital meg... ORPHA:116
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Megacystis, Hydroureter, Multicystic kidney dysplasia ORPHA:2241
Pagod Syndrome
Optic atrophy, Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Abnormality of the spleen ORPHA:991
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Periportal fibrosis, Renal hypoplasia, Splenomegaly, Cystic renal dysplasia OMIM:269860
Focal Dermal Hypoplasia
Renal hypoplasia/aplasia, Hydronephrosis, Chorioretinal coloboma, Multicystic kidney dysplasia, H... ORPHA:2092
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia ORPHA:261197
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Optic nerve dysplasia, Multicystic kidney dysplasia, Retinal dysplasia, Elevated circulating crea... OMIM:615287
Fryns Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Hypospadias, Vesicoureteral reflux ORPHA:2059
Histiocytoid Cardiomyopathy
Optic atrophy, Polycystic ovaries, Hepatomegaly, Renal cyst ORPHA:137675
Fryns Syndrome
Ureteral duplication, Hypospadias, Renal cyst, Renal agenesis, Hydronephrosis, Ectopic pancreatic... OMIM:229850
Genitopatellar Syndrome
Hydronephrosis, Multicystic kidney dysplasia ORPHA:85201
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal hypoplasia, Renal cyst OMIM:616300
Cutis Marmorata Telangiectatica Congenita
Retinal detachment, Displacement of the urethral meatus, Multicystic kidney dysplasia ORPHA:1556
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Optic atrophy, Annular pancreas, Hypospadias, Vesicoureteral reflux, Renal cyst OMIM:616975
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hydroureter, Hypospadias, Hepatomegaly, Hypoplasia of penis, Hydronephrosis... ORPHA:373
1P36 Deletion Syndrome
Optic atrophy, Abnormality of the kidney, Annular pancreas, Hypospadias, Hypoplasia of penis, Ren... ORPHA:1606
Bardet-Biedl Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Retinal dystrophy, Hypoplasia of p... ORPHA:110
Smith-Lemli-Opitz Syndrome
Optic atrophy, Renal hypoplasia/aplasia, Abnormality of the gallbladder, Hypospadias, Hypoplasia ... ORPHA:818
Spondylocarpotarsal Synostosis Syndrome
Abnormality of retinal pigmentation, Renal cyst OMIM:272460
Attenuated Familial Adenomatous Polyposis
Multiple renal cysts ORPHA:220460
Schinzel-Giedion Syndrome
Annular pancreas, Hypospadias, Nephrolithiasis, Renal cyst, Abnormality of the ureter, Hydronephr... ORPHA:798
Proteus Syndrome
Retinal hamartoma, Enlarged kidney, Long penis, Retinal nonattachment, Enlarged polycystic ovarie... ORPHA:744
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Renal insufficiency, Hydronephrosis, Exocrine pancreatic insufficie... ORPHA:2750
Hajdu-Cheney Syndrome
Splenomegaly, Hepatomegaly, Hypospadias, Multiple renal cysts ORPHA:955
Williams Syndrome
Abnormal circulating lipid concentration, Hypoplasia of penis, Nephrocalcinosis, Multiple renal c... ORPHA:904
Jacobsen Syndrome
Annular pancreas, Bone marrow hypocellularity, Hydronephrosis, Thrombocytopenia, Multicystic kidn... ORPHA:2308
Cerebrocostomandibular Syndrome
Horseshoe kidney, Ectopic kidney, Renal cyst OMIM:117650
Mosaic Variegated Aneuploidy Syndrome
Nephroblastoma, Acute lymphoblastic leukemia, Multicystic kidney dysplasia ORPHA:1052
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Optic nerve hypoplasia, Hypospadias, Renal cyst ORPHA:495875
Tetrasomy 9P
Abnormal chorioretinal morphology, Jaundice, Biliary atresia, Recurrent urinary tract infections,... ORPHA:3310
Trisomy 10P
Absent gallbladder, Abnormality of the kidney, Multiple renal cysts ORPHA:171929
Autosomal Recessive Robinow Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Hypoplasia of penis ORPHA:1507
Simpson-Golabi-Behmel Syndrome, Type 1
Enlarged kidney, Hepatomegaly, Hypospadias, Renal cyst, Hydronephrosis, Splenomegaly, Hepatoblast... OMIM:312870
Osteopathia Striata With Cranial Sclerosis
Multicystic kidney dysplasia OMIM:300373
Distal Deletion 15Q
Micropenis, Hypospadias, Multicystic kidney dysplasia, Abnormal localization of kidney ORPHA:1596
Townes-Brocks Syndrome
Abnormality of the kidney, Ectopic kidney, Hypospadias, Hypoplasia of penis, Vesicoureteral reflu... ORPHA:857
Cerebrocostomandibular Syndrome
Multicystic kidney dysplasia ORPHA:1393
Robinow Syndrome
Hydronephrosis, Micropenis, Multicystic kidney dysplasia, Webbed penis ORPHA:97360
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Renal cyst, Renal hypoplasia, Urethrovaginal fistula, Hydronephrosis, Congen... ORPHA:93271
Townes-Brocks Syndrome 1
Hypospadias, Renal insufficiency, Vesicoureteral reflux, Renal hypoplasia, Urethral valve, Chorio... OMIM:107480
Peters Plus Syndrome
Optic atrophy, Ureteral duplication, Renal hypoplasia/aplasia, Hypospadias, Hydronephrosis, Renal... ORPHA:709
Branchiooculofacial Syndrome
Hypospadias, Renal cyst, Retinal coloboma, Renal agenesis, Ectopic thymus tissue OMIM:113620
C Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Horseshoe kidney ORPHA:1308
Cornelia De Lange Syndrome
Hypospadias, Multicystic kidney dysplasia, Hypoplasia of penis, Vesicoureteral reflux, Renal insu... ORPHA:199
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Pelvic kidney, Vesicoureteral re... ORPHA:261537
Mowat-Wilson Syndrome
Abnormality of the kidney, Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Pelvi... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Optic atrophy, Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Pelvic kidney, Ve... ORPHA:261552
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral renal agenesis, Hypospadias, Renal agenesis, Renal dysplasia, Multicystic kidney dyspl... OMIM:308205
Genitopatellar Syndrome
Hydronephrosis, Micropenis, Multicystic kidney dysplasia OMIM:606170
Pmm2-Cdg
Abnormal renal tubule morphology, Abnormal liver parenchyma morphology, Photoreceptor layer loss ... ORPHA:79318
Pallister-Killian Syndrome
Renal dysplasia, Hypospadias, Renal cyst OMIM:601803
Craniofacial Microsomia 1
Ectopic kidney, Vesicoureteral reflux, Renal agenesis, Ureteropelvic junction obstruction, Multic... OMIM:164210

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 Ppil1

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 Ppil1.

No publications found that use IMPC mice or data for Ppil1.

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MGI Allele Allele Type Produced
Ppil1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ppil1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Ppil1em1(IMPC)Mbp Exon Deletion Mice, Tissue

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