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Gene: Cmpk1 MGI:1913838

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Gene Summary

Name:
cytidine/uridine monophosphate kinase 1
Synonyms:
Cmpk,  0610011D08Rik

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
preweaning lethality, complete penetrance Cmpk1tm1b(EUCOMM)Wtsi HOM   Early adult 1.79×10-05
abnormal retina blood vessel morphology Cmpk1tm1b(EUCOMM)Wtsi HET Early adult 8.88×10-05
abnormal retina vasculature morphology Cmpk1tm1b(EUCOMM)Wtsi HET   Early adult 1.76×10-05
polycystic kidney Cmpk1tm1b(EUCOMM)Wtsi HET Early adult 0.00
increased circulating iron level Cmpk1tm1b(EUCOMM)Wtsi HET Early adult 9.30×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Cmpk1 mutations

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

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

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Cmpk1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Nephronophthisis 14
Polycystic kidney dysplasia, Retinal degeneration, Nephronophthisis OMIM:614844
Hanac Syndrome
Retinal vascular tortuosity, Renal insufficiency, Hematuria, Multiple renal cysts ORPHA:73229
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe... OMIM:617610
Bardet-Biedl Syndrome 10
Renal insufficiency, Rod-cone dystrophy, Retinal dystrophy, Renal cyst OMIM:615987
Polycystic Kidney Disease 7
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... OMIM:620056
Renal Dysplasia, Cystic, Susceptibility To
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... OMIM:601331
Meckel Syndrome 13
Retinopathy, Polycystic kidney dysplasia OMIM:617562
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Rod-cone dystrop... OMIM:615993
Nephronophthisis 20
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... OMIM:617271
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia, Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Neph... OMIM:145001
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... OMIM:615382
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... OMIM:618061
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha-fetoprotein c... OMIM:613095
Bardet-Biedl Syndrome 4
Renal cyst, Rod-cone dystrophy, Abnormality of the kidney, Retinal degeneration OMIM:615982
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal insufficiency, Elevated circulating creatine kinase concentration, Retinal arteriolar tortu... OMIM:611773
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hepatic cysts, Polycystic kidney dysplasia OMIM:600666
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia, Increased circulating very long-chain fatty acid concentration OMIM:614859
Hemochromatosis, Type 5
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... OMIM:615517
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... OMIM:603860
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia OMIM:173900
Renal Coloboma Syndrome
Multicystic kidney dysplasia, Renal insufficiency, Optic disc coloboma, Optic nerve dysplasia, Re... ORPHA:1475
Meckel Syndrome, Type 8
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:613885
Joubert Syndrome 16
Retinal dystrophy, Renal cyst, Nephronophthisis OMIM:614465
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Absence of renal corticomedullary differentiation, Pancreatic cysts, Multipl... OMIM:263200
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... OMIM:614817
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Hypocalcemia, Polycystic kidney ... ORPHA:2237
Gracile Syndrome
Increased serum pyruvate, Increased circulating ferritin concentration, Aminoaciduria, Increased ... OMIM:603358
Joubert Syndrome 20
Retinopathy, Renal cyst OMIM:614970
Iron Overload, Susceptibility To
Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat... OMIM:620121
Campomelia, Cumming Type
Pancreatic cysts, Polycystic kidney dysplasia OMIM:211890
Bardet-Biedl Syndrome 6
Pigmentary retinopathy, Rod-cone dystrophy, Hypospadias, Renal cyst OMIM:605231
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Increased total bilirubin OMIM:174050
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617874
Papillorenal Syndrome
Renal cyst, Macular degeneration, Vesicoureteral reflux, Multicystic kidney dysplasia, Optic disc... OMIM:120330
Rhyns Syndrome
Multicystic kidney dysplasia, Rod-cone dystrophy, Nephronophthisis ORPHA:140976
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... ORPHA:157
Femoral-Facial Syndrome
Long penis, Polycystic kidney dysplasia, Abnormal localization of kidney, Renal hypoplasia/aplasia ORPHA:1988
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... ORPHA:254704
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Increased serum iron, Abnormal localization of kidney ORPHA:446
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma... OMIM:231680
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Focal segmenta... OMIM:617056
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Ureteral duplication, Renal insufficiency, Elevated circulating creatine kinase ... OMIM:608836
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, E... ORPHA:228308
Peroxisome Biogenesis Disorder 2A (Zellweger)
Optic nerve dysplasia, Pigmentary retinopathy, Aminoaciduria, Polycystic kidney dysplasia, Elevat... OMIM:214110
Indomethacin Embryofetopathy
Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology ORPHA:1909
Joubert Syndrome 39
Retinal dystrophy, Polycystic kidney dysplasia OMIM:619562
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Elevated transferrin saturation OMIM:205950
Renal Tubular Dysgenesis
Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts ORPHA:3033
Congenital Disorder Of Glycosylation, Type Il
Polycystic kidney dysplasia OMIM:608776
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Arima Syndrome
Retinal dystrophy, Proteinuria, Polyuria, Optic atrophy, Stage 5 chronic kidney disease, Hematuri... OMIM:243910
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... OMIM:193220
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... ORPHA:26791
Thomas Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
Odontochondrodysplasia 1
Polycystic kidney dysplasia, Nephronophthisis OMIM:184260
Branchiootorenal Syndrome 1
Renal malrotation, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dysplasia, Vesic... OMIM:113650
Bardet-Biedl Syndrome 17
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Polyuria, Stag... OMIM:615994
Trisomy 17P
Hypoplasia of penis, Urethral valve, Urethral stenosis, Polycystic kidney dysplasia, Hydronephrosis ORPHA:261290
Gillessen-Kaesbach-Nishimura Syndrome
Polycystic kidney dysplasia OMIM:263210
Hepatorenocardiac Degenerative Fibrosis
Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced renal corticomedulla... OMIM:619902
Distal Triplication 15Q
Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe kidney, Polycystic kidney dy... ORPHA:314588
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hypospadias, Conjugated hyperbilirubinemia, Optic nerve dysplasia, Optic atrophy, Elevated circul... OMIM:614866
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polycystic kidney dysplasia, Hypospadias, Renal hypoplasia, Renal cyst OMIM:614091
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Isolated Polycystic Liver Disease
Multiple renal cysts, Increased total bilirubin ORPHA:2924
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Optic disc pallor, Cystic renal dysplasia, Ectopic kidney OMIM:613730
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Renal dysplasia ORPHA:3032
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... OMIM:602088
Joubert Syndrome 7
Retinal dystrophy, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis OMIM:611560
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst OMIM:614870
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic... ORPHA:730
Renal-Hepatic-Pancreatic Dysplasia 1
Renal insufficiency, Pancreatic cysts, Stage 5 chronic kidney disease, Ureteral atresia, Polycyst... OMIM:208540
Joubert Syndrome 35
Multicystic kidney dysplasia, Recurrent urinary tract infections, Renal fibrosis, Rod-cone dystro... OMIM:618161
Aceruloplasminemia
Increased circulating ferritin concentration, Retinal degeneration, Aceruloplasminemia, Decreased... OMIM:604290
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Renal cyst OMIM:109130
Renal Hypoplasia, Bilateral
Hyponatremia, Proteinuria, Chronic kidney disease, Hyperkalemia, Renal hypoplasia, Renal cyst, Ol... ORPHA:97362
Hjv Or Hamp-Related Hemochromatosis
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro... ORPHA:79230
Nephronophthisis 11
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:613550
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hyperechogenic kidneys, Polycystic kidney dysplasia OMIM:617866
Tuberous Sclerosis Complex
Renal insufficiency, Retinal astrocytic hamartoma, Abnormality of the kidney, Retinal hamartoma, ... ORPHA:805
Phelan-Mcdermid Syndrome
Vesicoureteral reflux, Abnormality of the kidney, Polycystic kidney dysplasia OMIM:606232
Trisomy X
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3375
Genitopalatocardiac Syndrome
Hypospadias, Renal cyst OMIM:231060
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Micropenis, Retinal coloboma, Polycystic kidney dysplasia OMIM:616546
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostasis OMIM:231100
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Increased circulating thyroglobulin level, Polycystic kidney dysplasia, Renal cyst OMIM:610199
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia OMIM:613091
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis OMIM:610205
Peroxisome Biogenesis Disorder 11A (Zellweger)
Multiple renal cysts, Renal cyst OMIM:614883
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Renal insufficiency, Recurrent urinary tract infections, Pancreatic cysts, Oliguria... ORPHA:731
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:256100
Gracile Syndrome
Decreased transferrin saturation, Increased circulating ferritin concentration, Renal Fanconi syn... ORPHA:53693
Epidermal Nevus Syndrome
Polycystic kidney dysplasia ORPHA:35125
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... OMIM:606966
Anemia, Hypochromic Microcytic, With Iron Overload 1
Increased serum iron, Elevated hepatic iron concentration OMIM:206100
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Decreased serum iron, Epi... OMIM:616959
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis ORPHA:75563
Say Syndrome
Proximal renal tubular acidosis, Cystic renal dysplasia OMIM:181180
Caroli Disease
Conjugated hyperbilirubinemia, Abnormal circulating alpha-fetoprotein concentration, Polycystic k... ORPHA:53035
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab... OMIM:600740
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Micropenis, Retinal dystrophy, Polycystic kidney dysplasia OMIM:263520
Peroxisome Biogenesis Disorder 1B
Hyperoxaluria, Rod-cone dystrophy, Optic atrophy, Renal cyst OMIM:601539
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Renal cell carcinoma, Renal cyst OMIM:135150
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Vesicoureteral reflux, Multiple renal cysts, Renal hypoplasia/aplasia ORPHA:1166
15q26 overgrowth syndrome
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... DECIPHER:81
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal cotton wool spot, Proteinuria, Abnormal retinal vascular morphology, Elevated circulating... ORPHA:247691
Syndromic Diarrhea
Polycystic kidney dysplasia, Renal hypoplasia, Abnormality of iron homeostasis ORPHA:84064
Bardet-Biedl Syndrome 12
Hydronephrosis, Rod-cone dystrophy, Cystic renal dysplasia, Hydroureter OMIM:615989
Fanconi Anemia, Complementation Group O
Hydronephrosis, Stage 5 chronic kidney disease, Renal cyst OMIM:613390
Mckusick-Kaufman Syndrome
Vesicovaginal fistula, Hydroureter, Hydronephrosis, Polycystic kidney dysplasia OMIM:236700
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... OMIM:137920
Meckel Syndrome 14
Polycystic kidney dysplasia OMIM:619879
22Q11.2 Deletion Syndrome
Hypospadias, Retinal arteriolar tortuosity, Optic atrophy, Renal hypoplasia, Multiple renal cysts... ORPHA:567
Coach Syndrome 1
Optic disc pallor, Unilateral renal agenesis, Multiple small medullary renal cysts, Stage 5 chron... OMIM:216360
Prune Belly Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete... ORPHA:2970
Verheij Syndrome
Renal agenesis, Optic nerve hypoplasia, Renal cyst, Renal hypoplasia OMIM:615583
Joubert Syndrome 18
Renal cyst, Horseshoe kidney OMIM:614815
Mody
Elevated hemoglobin A1c, Abnormality of the kidney, Abnormal circulating C-peptide concentration,... ORPHA:552
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Multicystic kidney dysplasia, Renal cyst, Chorioretinal coloboma ORPHA:2031
Diaphanospondylodysostosis
Multiple renal cysts ORPHA:66637
Distal Deletion 12Q
Ectopic kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Micropenis, Hydronephrosis ORPHA:96149
Orofaciodigital Syndrome I
Proteinuria, Pancreatic cysts, Ovarian cyst, Polycystic kidney dysplasia, Hepatic cysts OMIM:311200
Acrorenal-Mandibular Syndrome
Renal agenesis, Aplasia of the bladder, Abnormality of the ureter, Polycystic kidney dysplasia OMIM:200980
Caroli Syndrome
Conjugated hyperbilirubinemia, Polycystic kidney dysplasia, Abnormality of the kidney, Hyperbilir... ORPHA:480520
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Ureteral agenesis, Renal dysplasia, Renal hypoplasia, Renal cyst OMIM:236500
Bardet-Biedl Syndrome
Pigmentary retinopathy, Hypoplasia of penis, Nephrotic syndrome, Multicystic kidney dysplasia ORPHA:110
Meckel Syndrome, Type 1
Hypoplasia of the bladder, Renal agenesis, Abnormality of the ureter, Elevated amniotic fluid alp... OMIM:249000
Hajdu-Cheney Syndrome
Hypospadias, Polycystic kidney dysplasia, Renal cyst OMIM:102500
Trisomy 13
Abnormal retinal vascular morphology, Abnormality of the ureter, Optic atrophy, Multiple renal cy... ORPHA:3378
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Renal cyst, Horseshoe kidney, Hypoautofluorescent retinal lesion, Rod-cone dystrophy, Retinal deg... OMIM:250410
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Renal cyst, Rod-cone dystrophy, Retinal degeneration, Horseshoe kidney ORPHA:166035
Floating-Harbor Syndrome
Hypospadias, Renal agenesis, Dilatation of the renal pelvis, Stage 5 chronic kidney disease, Rena... ORPHA:2044
Ogden Syndrome
Global glomerulosclerosis, Enlarged kidney, Polycystic kidney dysplasia, Hyperbilirubinemia OMIM:300855
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... ORPHA:107
Neuromuscular Oculoauditory Syndrome
Elevated circulating creatine kinase concentration, Chorioretinal lacunae, Retinal pigment epithe... OMIM:618733
Combined Oxidative Phosphorylation Deficiency 11
Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Renal dysplasia OMIM:614922
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... ORPHA:2973
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,... ORPHA:1834
Aceruloplasminemia
Abnormality of retinal pigmentation, Decreased circulating ceruloplasmin concentration, Decreased... ORPHA:48818
Congenital Disorder Of Glycosylation, Type Ib
Proximal tubulopathy, Hypoalbuminemia, Renal cyst OMIM:602579
Distal Renal Tubular Acidosis
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... ORPHA:18
Polysyndactyly With Cardiac Malformation
Hepatic cysts, Renal cyst OMIM:263630
Immunodeficiency 96
Conjunctival telangiectasia, Multicystic kidney dysplasia OMIM:619774
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Conjugated hyperbilirubinemia, Renal cyst, Hyperbilirubinemia, Abnormal serum bile ac... ORPHA:79303
Peroxisome Biogenesis Disorder 4A (Zellweger)
Renal cyst, Increased circulating very long-chain fatty acid concentration OMIM:614862
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal insufficiency, Proteinuria, Conjugated hyperbilirubinemia, Pancreatic cysts, Chronic kidney... OMIM:208500
Joubert Syndrome 1
Optic disc pallor, Retinal dystrophy, Optic disc coloboma, Renal cyst, Retinal dysplasia, Chorior... OMIM:213300
Meckel Syndrome, Type 10
Micropenis, Hypospadias, Renal cyst OMIM:614175
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Renal hypoplasia, Renal cyst, Polycystic kidney dysplasia, Hyperbilirubinemia, Micropenis OMIM:210710
Roberts Syndrome
Long penis, Polycystic kidney dysplasia ORPHA:3103
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Increased urine alpha-ketoglutarate concentration, Renal agenesis, Optic atrophy, Cystic renal dy... OMIM:220500
Joubert Syndrome 2
Renal insufficiency, Retinal dystrophy, Optic disc coloboma, Renal cyst, Chorioretinal coloboma, ... OMIM:608091
Joubert Syndrome 14
Renal cyst, Optic atrophy, Morning glory anomaly OMIM:614424
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis OMIM:615398
Femoral-Facial Syndrome
Micropenis, Renal agenesis, Polycystic kidney dysplasia, Abnormal renal collecting system morphology OMIM:134780
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H... ORPHA:93111
Familial Adenomatous Polyposis 4
Ovarian cyst, Renal cyst OMIM:617100
Meckel Syndrome, Type 5
Renal cyst OMIM:611561
Hyperparathyroidism-Jaw Tumor Syndrome
Renal insufficiency, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hypercalciuria,... ORPHA:99880
Congenital Disorder Of Glycosylation, Type Ia
Proteinuria, Renal cyst, Nephrotic syndrome, Proximal tubulopathy, Hypoalbuminemia, Hypocholester... OMIM:212065
3-Methylglutaconic Aciduria Type 7
Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst ORPHA:445038
Parathyroid Carcinoma
Renal insufficiency, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hypercalciuria,... ORPHA:143
Zellweger Syndrome
Multicystic kidney dysplasia, Abnormal chorioretinal morphology, Hypospadias, Optic atrophy, Hydr... ORPHA:912
Von Hippel-Lindau Disease
Papilledema, Retinal detachment, Hypertensive retinopathy, Elevated urinary catecholamine level, ... ORPHA:892
Cystic Echinococcosis
Renal cyst, Ovarian cyst, Membranous nephropathy, Hyperbilirubinemia, Hepatic cysts ORPHA:400
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Retinal detachment, Optic disc pallor, Hypospadias, Unilateral renal agenesis, Renal cyst, Microp... ORPHA:464311
Joubert Syndrome 5
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Retin... OMIM:610188
Diaphanospondylodysostosis
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney OMIM:608022
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Renal hypoplasia, Renal cyst, Pigmentary retinopathy, Vesicoureteral reflux... OMIM:618460
Kleefstra Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Renal cyst, Vesicoureteral reflux, Micrope... ORPHA:261494
Vacterl/Vater Association
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A... ORPHA:887
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil... OMIM:614527
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... ORPHA:79404
Atelosteogenesis Type I
Multiple renal cysts, Retinal dysplasia ORPHA:1190
Meckel Syndrome, Type 6
Aplasia of the bladder, Hepatic cysts, Renal cyst, Horseshoe kidney OMIM:612284
Von Hippel-Lindau Syndrome
Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst, Retinal capillary ... OMIM:193300
Thauvin-Robinet-Faivre Syndrome
Renal malrotation, Renal cyst, Retinal coloboma, Nephroblastoma, Bifid ureter, Renal dysplasia OMIM:617107
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia, Hypercalciuria, Renal cyst, Nephrocalcinosis, Congenital meg... ORPHA:369837
Transketolase Deficiency
Increased level of ribose in urine, Renal cyst, Elevated circulating ribitol concentration ORPHA:488618
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Renal dysplasia, Ureteral duplication, Retinal dystrophy, Pancreatic cysts, Stage 5 chronic kidne... OMIM:266920
Beta-Thalassemia
Abnormality of iron homeostasis ORPHA:848
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia OMIM:618829
Attenuated Familial Adenomatous Polyposis
Multiple renal cysts, Congenital hypertrophy of retinal pigment epithelium ORPHA:220460
Cornelia De Lange Syndrome 1
Hypospadias, Proteinuria, Ectopic kidney, Optic disc coloboma, Optic atrophy, Vesicoureteral refl... OMIM:122470
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia, Septo-optic dysplasia, Optic atrophy ORPHA:3301
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia OMIM:619980
Peutz-Jeghers Syndrome
Enlarged polycystic ovaries, Renal cell carcinoma, Abnormality of the ureter, Multiple renal cysts ORPHA:2869
Meckel Syndrome, Type 2
Renal cyst OMIM:603194
Pearson Syndrome
Renal insufficiency, Proteinuria, Hypomagnesemia, Lacticaciduria, Renal cyst, Pigmentary retinopa... ORPHA:699
Tuberous Sclerosis 2
Absence of renal corticomedullary differentiation, Retinal hamartoma, Renal cyst, Achromatic reti... OMIM:613254
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Cystic renal dysplasia, Hepatic cysts OMIM:615415
Joubert Syndrome 21
Optic atrophy, Megalopapilla, Renal cyst, Hyperechogenic kidneys, Retinopathy OMIM:615636
Campomelia, Cumming Type
Pancreatic cysts, Multicystic kidney dysplasia, Multiple renal cysts ORPHA:1318
17Q12 Microdeletion Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Ureterocele, Renal hypoplasia/aplasia ORPHA:261265
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Multicystic kidney dysplasia, Fetal megacystis ORPHA:73246
Meckel Syndrome, Type 3
Multicystic kidney dysplasia OMIM:607361
Developmental Delay With Or Without Dysmorphic Facies And Autism
Optic disc coloboma, Renal hypoplasia, Renal cyst, Microphallus, Vesicoureteral reflux, Hydroneph... OMIM:618454
Trisomy 1Q
Multicystic kidney dysplasia, Congenital megaureter, Hydronephrosis ORPHA:261344
Joubert Syndrome With Hepatic Defect
Multicystic kidney dysplasia, Renal insufficiency, Optic disc coloboma, Chorioretinal coloboma, N... ORPHA:1454
Tuberous Sclerosis 1
Achromatic retinal patches, Renal cell carcinoma, Renal cyst, Renal angiomyolipoma OMIM:191100
Ulbright-Hodes Syndrome
Abnormal penis morphology, Renal hypoplasia, Polycystic kidney dysplasia ORPHA:3404
Pallister-Hall Syndrome
Renal dysplasia, Hydroureter, Distal urethral duplication, Ectopic kidney, Renal hypoplasia, Rena... OMIM:146510
Meckel Syndrome, Type 4
Renal cyst OMIM:611134
2P15P16.1 Microdeletion Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Optic atrophy, Optic nerve hypoplasia ORPHA:261349
Mosaic Variegated Aneuploidy Syndrome 1
Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Renal cyst, Micropenis OMIM:257300
Trisomy 20P
Hypospadias, Abnormality of the kidney, Abnormality of the ureter, Abnormal localization of kidne... ORPHA:261318
Mosaic Trisomy 1
Renal cortical cysts, Micropenis, Penile hypospadias, Renal cyst ORPHA:1692
Harrod Syndrome
Multicystic kidney dysplasia, Hypospadias ORPHA:2115
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Renal cyst ORPHA:480536
Beta-Thalassemia Intermedia
Proximal tubulopathy, Abnormality of iron homeostasis, Elevated hepatic iron concentration ORPHA:231222
Dyrk1A-Related Intellectual Disability Syndrome
Optic disc pallor, Hypospadias, Unilateral renal agenesis, Renal cyst, Micropenis, Pelvic kidney,... ORPHA:464306
Meckel Syndrome, Type 7
Pancreatic cysts, Multicystic kidney dysplasia, Multiple glomerular cysts, Stage 5 chronic kidney... OMIM:267010
Marden-Walker Syndrome
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... ORPHA:2461
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis ORPHA:1297
Symptomatic Form Of Hfe-Related Hemochromatosis
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro... ORPHA:465508
Trichohepatoenteric Syndrome 1
Hypospadias, Increased serum iron, Hypoalbuminemia, Galactosuria, Hypermethioninemia, Abnormality... OMIM:222470
Alagille Syndrome 1
Duplicated collecting system, Hypertriglyceridemia, Multiple small medullary renal cysts, Chorior... OMIM:118450
Radio-Renal Syndrome
Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia ORPHA:3015
Penile Agenesis
Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o... ORPHA:49
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Multicystic kidney dysplasia, Elevated circulating creatine kinase concentration, Optic nerve dys... OMIM:615287
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Glomerulopathy, Renal insufficiency, Proteinuria, Hypoammonemia, Chorioretinal dysp... ORPHA:534
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Elevated circulating creatinine concentration, Renal cyst OMIM:617478
Roberts-Sc Phocomelia Syndrome
Long penis, Hypospadias, Polycystic kidney dysplasia, Horseshoe kidney OMIM:268300
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Renal cyst OMIM:615560
Mosaic Trisomy 9
Renal dysplasia, Hypoplasia of penis, Horseshoe kidney, Multiple renal cysts, Hydronephrosis ORPHA:99776
Mckusick-Kaufman Syndrome
Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Glandular hypospadias... ORPHA:2473
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias ORPHA:2075
2Q37 Microdeletion Syndrome
Multicystic kidney dysplasia, Nephroblastoma ORPHA:1001
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Horseshoe kidney, Chorioretinal coloboma,... ORPHA:2092
Lymphangioleiomyomatosis
Abnormal urinary color, Renal neoplasm, Retinal hamartoma, Optic atrophy, Hematuria, Multiple ren... ORPHA:538
Cutis Marmorata Telangiectatica Congenita
Retinal detachment, Multicystic kidney dysplasia, Displacement of the urethral meatus ORPHA:1556
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Hydroureter, Megacystis ORPHA:2241
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Renal dysplasia, Renal cyst OMIM:617260
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Retinal coloboma, Nephroblastoma, Bifid ureter, ... ORPHA:500095
Fryns Syndrome
Vesicoureteral reflux, Multicystic kidney dysplasia, Hypospadias, Hydronephrosis ORPHA:2059
Smith-Lemli-Opitz Syndrome
Ureteropelvic junction obstruction, Duplicated collecting system, Hypospadias, Renal agenesis, Un... OMIM:270400
Alveolar Echinococcosis
Pancreatic cysts, Abnormal bladder morphology, Hepatic cysts, Renal cyst ORPHA:284
D-Bifunctional Protein Deficiency
Renal cyst, Increased circulating very long-chain fatty acid concentration OMIM:261515
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia ORPHA:261197
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Vesicoureteral reflux, Hypospadias, Optic atrophy, Renal cyst OMIM:616975
Genitopatellar Syndrome
Multicystic kidney dysplasia, Hydronephrosis ORPHA:85201
Histiocytoid Cardiomyopathy
Optic atrophy, Renal cyst, Polycystic ovaries ORPHA:137675
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal hypoplasia, Renal cyst OMIM:616300
Kaposiform Lymphangiomatosis
Pancreatic cysts, Multiple renal cysts, Enlarged kidney ORPHA:464329
Spondylocarpotarsal Synostosis Syndrome
Abnormality of retinal pigmentation, Renal cyst OMIM:272460
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal blood inorganic cation concentration, Hyperglycinemia, Increased total iron binding capa... ORPHA:309854
Smith-Lemli-Opitz Syndrome
Multicystic kidney dysplasia, Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Optic a... ORPHA:818
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Horseshoe kidney, Crossed... ORPHA:2538
Meckel Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Abnormal chorioretinal morphology, Pancreatic... ORPHA:564
Acrocephalopolydactylous Dysplasia
Cystic renal dysplasia, Enlarged kidney OMIM:200995
Beckwith-Wiedemann Syndrome
Ureteral duplication, Elevated circulating alpha-fetoprotein concentration, Nephropathy, Nephroli... ORPHA:116
Fryns Syndrome
Ureteral duplication, Renal agenesis, Hypospadias, Renal cyst, Hydronephrosis OMIM:229850
Pagod Syndrome
Multicystic kidney dysplasia, Optic atrophy, Renal hypoplasia/aplasia ORPHA:991
Schinzel-Giedion Syndrome
Hypospadias, Abnormality of the ureter, Nephrolithiasis, Renal cyst, Micropenis, Nephroblastoma, ... ORPHA:798
Dominant Beta-Thalassemia
Abnormality of iron homeostasis ORPHA:231226
1P36 Deletion Syndrome
Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Optic atrophy, Ocular albinism, Rena... ORPHA:1606
Short-Rib Thoracic Dysplasia 12
Renal hypoplasia, Cystic renal dysplasia OMIM:269860
Cranioectodermal Dysplasia 2
Renal insufficiency, Renal cyst, Hyperbilirubinemia OMIM:613610
Williams Syndrome
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Abnormal tubulointerstit... ORPHA:904
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Optic nerve hypoplasia, Renal cyst ORPHA:495875
Orofaciodigital Syndrome Type 1
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Pancreatic cysts, Hydronephrosis ORPHA:2750
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... ORPHA:373
Cerebrocostomandibular Syndrome
Horseshoe kidney, Renal cyst, Ectopic kidney OMIM:117650
Beta-Thalassemia Major
Abnormality of iron homeostasis ORPHA:231214
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hydronephrosis ORPHA:1507
Proteus Syndrome
Abnormality of retinal pigmentation, Retinal hamartoma, Enlarged polycystic ovaries, Long penis, ... ORPHA:744
Tetrasomy 9P
Renal dysplasia, Recurrent urinary tract infections, Abnormal chorioretinal morphology, Horseshoe... ORPHA:3310
Townes-Brocks Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, Urethral valve,... ORPHA:857
Osteopathia Striata With Cranial Sclerosis
Multicystic kidney dysplasia OMIM:300373
Mosaic Variegated Aneuploidy Syndrome
Multicystic kidney dysplasia, Nephroblastoma ORPHA:1052
Robinow Syndrome
Webbed penis, Micropenis, Multicystic kidney dysplasia, Hydronephrosis ORPHA:97360
Trisomy 10P
Multiple renal cysts, Abnormality of the kidney ORPHA:171929
Jacobsen Syndrome
Multicystic kidney dysplasia, Hydronephrosis ORPHA:2308
Hajdu-Cheney Syndrome
Multiple renal cysts, Hypospadias ORPHA:955
Distal Deletion 15Q
Abnormal localization of kidney, Micropenis, Multicystic kidney dysplasia, Hypospadias ORPHA:1596
Townes-Brocks Syndrome 1
Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Urethral valve, Renal hypoplasia,... OMIM:107480
Peters Plus Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Optic ... ORPHA:709
Cerebrocostomandibular Syndrome
Multicystic kidney dysplasia ORPHA:1393
Branchiooculofacial Syndrome
Renal agenesis, Hypospadias, Retinal coloboma, Renal cyst OMIM:113620
Simpson-Golabi-Behmel Syndrome, Type 1
Hypospadias, Renal cyst, Duplication of renal pelvis, Nephroblastoma, Hydronephrosis, Enlarged ki... OMIM:312870
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Hydronephrosis ORPHA:93271
C Syndrome
Multicystic kidney dysplasia, Horseshoe kidney, Renal hypoplasia/aplasia ORPHA:1308
Fraser Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia, Urethral atresia ORPHA:2052
Cornelia De Lange Syndrome
Renal insufficiency, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Vesicoureter... ORPHA:199
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Chordee, Retinal coloboma, Vesic... ORPHA:261537
Mowat-Wilson Syndrome
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Abnormality of the kidney, Chord... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Optic atrophy, Duplication of re... ORPHA:261552
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Multicystic kidney dysplasia, Renal agenesis, Hypospadias, Unilateral renal agenesis, Renal dyspl... OMIM:308205
Genitopatellar Syndrome
Micropenis, Multicystic kidney dysplasia, Hydronephrosis OMIM:606170
Pmm2-Cdg
Proteinuria, Reduced thyroxin-binding globulin, Nephrotic syndrome, Hypoalbuminemia, Multiple ren... ORPHA:79318
Pallister-Killian Syndrome
Hypospadias, Renal dysplasia, Renal cyst OMIM:601803
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Vesicoureteral reflux, Ureteropelvi... 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 Cmpk1

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 Cmpk1.

No publications found that use IMPC mice or data for Cmpk1.

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
Cmpk1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Cmpk1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Cmpk1tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice

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