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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
polycystic kidney Cmpk1tm1b(EUCOMM)Wtsi HET Early adult 0.00
increased circulating iron level Cmpk1tm1b(EUCOMM)Wtsi HET Early adult 9.30×10-05
preweaning lethality, complete penetrance Cmpk1tm1b(EUCOMM)Wtsi HOM   Early adult 1.79×10-05
abnormal retina vasculature morphology Cmpk1tm1b(EUCOMM)Wtsi HET   Early adult 2.29×10-05
abnormal retina blood vessel morphology Cmpk1tm1b(EUCOMM)Wtsi HET Early adult 7.29×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes
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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
Nephronophthisis, Polycystic kidney dysplasia, Retinal degeneration OMIM:614844
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency, Retinal vascular tortuosity ORPHA:73229
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduced renal corticomedullary differenti... OMIM:617610
Bardet-Biedl Syndrome 10
Renal cyst, Renal insufficiency, Rod-cone dystrophy, Retinal dystrophy OMIM:615987
Polycystic Kidney Disease 7
Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ... OMIM:620056
Renal Dysplasia, Cystic, Susceptibility To
Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal... OMIM:601331
Meckel Syndrome 13
Polycystic kidney dysplasia, Retinopathy OMIM:617562
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Nephronophthisis 20
Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren... OMIM:617271
Bardet-Biedl Syndrome 16
Renal agenesis, Stage 5 chronic kidney disease, Renal insufficiency, Retinal degeneration, Renal ... OMIM:615993
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia, Papillary renal cell carcinoma, Nephroblastoma, Nephrolithiasis, Polycystic kidney... OMIM:145001
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Nephronophthisis 16
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi... OMIM:615382
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr... OMIM:617805
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Hepati... OMIM:618061
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... ORPHA:411527
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... OMIM:618270
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Elevated circulating creatinine concentration, Stage 5 chroni... OMIM:613095
Bardet-Biedl Syndrome 4
Renal cyst, Abnormality of the kidney, Rod-cone dystrophy, Retinal degeneration OMIM:615982
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... OMIM:193235
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati... OMIM:608850
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Retinal arteriolar tortuosity, Renal insufficiency, Elevated circulating creatine kinase concentr... OMIM:611773
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Familial Exudative Vitreoretinopathy
Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac... ORPHA:891
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hepatic cysts OMIM:600666
Peroxisome Biogenesis Disorder 3A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Polycystic kidney dysplasia OMIM:614859
Hemochromatosis, Type 5
Abnormal circulating copper concentration, Increased circulating iron concentration, Abnormal cir... OMIM:615517
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts OMIM:173900
Medullary cystic kidney disease 2
Enuresis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Hyperuricemia, Re... OMIM:603860
Renal Coloboma Syndrome
Multicystic kidney dysplasia, Renal hypoplasia, Optic disc coloboma, Retinal coloboma, Vesicouret... ORPHA:1475
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Hepatic cysts,... OMIM:263200
Meckel Syndrome, Type 8
Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Joubert Syndrome 16
Renal cyst, Nephronophthisis, Retinal dystrophy OMIM:614465
Nephronophthisis 9
Nephronophthisis, Stage 5 chronic kidney disease, Retinal degeneration, Polyuria, Renal cortical ... OMIM:613824
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Glycosuria, Renal tubular cyst, Elevated circulating creatinine concentration, ... OMIM:614817
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Renal insufficiency, Hypocalcemia, Vesicoureteral reflux, Hydronephros... ORPHA:2237
Gracile Syndrome
Aminoaciduria, Increased circulating iron concentration, Increased serum pyruvate, Increased circ... OMIM:603358
Joubert Syndrome 20
Renal cyst, Retinopathy OMIM:614970
Campomelia, Cumming Type
Pancreatic cysts, Polycystic kidney dysplasia OMIM:211890
Iron Overload, Susceptibility To
Elevated transferrin saturation, Elevated circulating hepcidin concentration, Elevated hepatic ir... OMIM:620121
Bardet-Biedl Syndrome 6
Renal cyst, Pigmentary retinopathy, Hypospadias, Rod-cone dystrophy OMIM:605231
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
Chronic kidney disease, Multicystic kidney dysplasia, Hematuria, Retinal detachment, Macular dege... OMIM:120330
Eales Disease
Macular edema, Retinal thinning, Peripheral retinal neovascularization, Vitritis, Epiretinal memb... ORPHA:40923
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Red-brown urine, Decreased plasma free carnitin... ORPHA:157
Femoral-Facial Syndrome
Abnormal localization of kidney, Long penis, Polycystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:1988
Neonatal Hemochromatosis
Abnormal localization of kidney, Increased circulating iron concentration, Increased circulating ... ORPHA:446
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Increased total bilirubin OMIM:174050
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Elevated circulating glutaric... OMIM:231680
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Red-brown urine, Dicarboxylic aciduria, Decreas... ORPHA:228308
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Increased total bilirubin, Elevated circulating creatinine concentration, Decrea... OMIM:608836
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Chronic kidney disease, Nephropathy, Elevated circulating cre... OMIM:617056
Rhyns Syndrome
Multicystic kidney dysplasia, Nephronophthisis, Rod-cone dystrophy ORPHA:140976
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Pigmentary retinopathy, Optic nerve dysplasia, Elevated circulating long chain fat... OMIM:214110
Indomethacin Embryofetopathy
Nephropathy, Multicystic kidney dysplasia, Abnormal renal tubule morphology, Renal insufficiency ORPHA:1909
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia, Polycystic kidney dysplasia OMIM:608776
Joubert Syndrome 39
Polycystic kidney dysplasia, Retinal dystrophy OMIM:619562
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Elevated transferrin saturation, Increased circulating ferritin concentration OMIM:205950
Renal Tubular Dysgenesis
Nephropathy, Proximal tubulopathy, Multiple renal cysts, Renotubular dysgenesis ORPHA:3033
Arima Syndrome
Optic atrophy, Nephronophthisis, Chorioretinal coloboma, Stage 5 chronic kidney disease, Renal so... OMIM:243910
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Multiple Acyl-Coa Dehydrogenase Deficiency
3-Methylglutaric aciduria, Elevated circulating acylcarnitine concentration, Glutaric aciduria, D... ORPHA:26791
Odontochondrodysplasia 1
Nephronophthisis, Polycystic kidney dysplasia OMIM:184260
Vitreoretinochoroidopathy
Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio... OMIM:193220
Thomas Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
Trisomy 17P
Hydronephrosis, Hypoplasia of penis, Urethral valve, Polycystic kidney dysplasia, Urethral stenosis ORPHA:261290
Branchiootorenal Syndrome 1
Unilateral renal agenesis, Renal malrotation, Abnormal renal collecting system morphology, Vesico... OMIM:113650
Bardet-Biedl Syndrome 17
Stage 5 chronic kidney disease, Retinal degeneration, Cone/cone-rod dystrophy, Renal cyst, Bone s... OMIM:615994
Gillessen-Kaesbach-Nishimura Syndrome
Polycystic kidney dysplasia OMIM:263210
Hepatorenocardiac Degenerative Fibrosis
Hyperechogenic kidneys, Reduced renal corticomedullary differentiation, Renal interstitial fibros... OMIM:619902
Distal Triplication 15Q
Dilatation of the renal pelvis, Horseshoe kidney, Nephroblastoma, Hydronephrosis, Abnormality of ... ORPHA:314588
Peroxisome Biogenesis Disorder 5A (Zellweger)
Optic atrophy, Pigmentary retinopathy, Hypospadias, Elevated circulating phytanic acid concentrat... OMIM:614866
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Renal hypoplasia, Polycystic kidney dysplasia, Renal cyst OMIM:614091
Renal Dysplasia
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, 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, Ectopic kidney, Cystic renal dysplasia OMIM:613730
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Renal dysplasia ORPHA:3032
Joubert Syndrome 7
Renal cyst, Stage 5 chronic kidney disease, Retinal dystrophy, Nephronophthisis OMIM:611560
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst OMIM:614870
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ... OMIM:602088
Renal-Hepatic-Pancreatic Dysplasia 1
Stage 5 chronic kidney disease, Renal insufficiency, Hepatic cysts, Ureteral atresia, Pancreatic ... OMIM:208540
Axial Osteomalacia
Renal cyst, Elevated circulating creatine kinase concentration OMIM:109130
Joubert Syndrome 35
Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydronephrosis,... OMIM:618161
Aceruloplasminemia
Decreased circulating iron concentration, Aceruloplasminemia, Increased circulating ferritin conc... OMIM:604290
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... ORPHA:97362
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased circulating iron concentration, Macular edema, Peripheral retinal atrophy, Epiretinal m... OMIM:616959
Hjv Or Hamp-Related Hemochromatosis
Abnormality of iron homeostasis, Elevated transferrin saturation, Increased circulating ferritin ... ORPHA:79230
Hemochromatosis, Neonatal
Abnormality of iron homeostasis, Increased circulating iron concentration, Increased circulating ... OMIM:231100
Nephronophthisis 11
Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Retin... OMIM:613550
Tuberous Sclerosis Complex
Chorioretinal hypopigmentation, Chronic kidney disease, Retinal astrocytic hamartoma, Renal insuf... ORPHA:805
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:617866
Nephronophthisis 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico... OMIM:604387
Phelan-Mcdermid Syndrome
Vesicoureteral reflux, Polycystic kidney dysplasia, Abnormality of the kidney OMIM:606232
Genitopalatocardiac Syndrome
Renal cyst, Hypospadias OMIM:231060
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, E... OMIM:174000
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Micropenis, Polycystic kidney dysplasia, Retinal coloboma OMIM:616546
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Renal cyst, Pancreatic cysts, Polycystic kidney dysplasia, Increased circulating thyroglobulin co... OMIM:610199
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Micropenis, Polycystic kidney dysplasia, Renal dysplasia, Enlarged kidney OMIM:613091
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Alagille Syndrome 2
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Proteinuria, Renal cyst, Hematuria OMIM:610205
Peroxisome Biogenesis Disorder 11A (Zellweger)
Renal cyst, Multiple renal cysts OMIM:614883
Nephronophthisis 1
Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal... OMIM:256100
Epidermal Nevus Syndrome
Polycystic kidney dysplasia ORPHA:35125
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Oliguria, Recurrent urinary tract infections, Reduced renal corticomedullary... ORPHA:731
Nephronophthisis 4
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia... OMIM:606966
Hyperferritinemia With Or Without Cataract
Abnormal transferrin saturation, Decreased transferrin saturation, Abnormal circulating iron conc... OMIM:600886
Peroxisome Biogenesis Disorder 1B
Optic atrophy, Hyperoxaluria, Renal cyst, Rod-cone dystrophy OMIM:601539
Gracile Syndrome
Decreased transferrin saturation, Renal Fanconi syndrome, Elevated hepatic iron concentration, In... ORPHA:53693
Anemia, Hypochromic Microcytic, With Iron Overload 1
Increased circulating iron concentration, Elevated hepatic iron concentration OMIM:206100
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis ORPHA:75563
Mody
Nephropathy, Glycosuria, Abnormal circulating C-peptide concentration, Retinopathy, Renal cyst, A... ORPHA:552
Say Syndrome
Cystic renal dysplasia, Proximal renal tubular acidosis OMIM:181180
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypocalciuria, Multiple small medullary renal cysts, Renal insufficiency, Nephro... OMIM:600740
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Micropenis, Polycystic kidney dysplasia, Retinal dystrophy OMIM:263520
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Vesicoureteral reflux, Multiple renal cysts, Renal hypoplasia/aplasia ORPHA:1166
Bardet-Biedl Syndrome 12
Hydronephrosis, Cystic renal dysplasia, Hydroureter, Rod-cone dystrophy OMIM:615989
15q26 overgrowth syndrome
Duplication of renal pelvis, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephro... DECIPHER:81
Caroli Disease
Polycystic kidney dysplasia, Conjugated hyperbilirubinemia ORPHA:53035
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Renal cyst, Renal cell carcinoma OMIM:135150
Syndromic Diarrhea
Abnormality of iron homeostasis, Renal hypoplasia, Polycystic kidney dysplasia ORPHA:84064
Fanconi Anemia, Complementation Group O
Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease OMIM:613390
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Nephropathy, Macular edema, Elevated circulating creatinine concentration, Proteinuria, Abnormal ... ORPHA:247691
Mckusick-Kaufman Syndrome
Hydronephrosis, Polycystic kidney dysplasia, Hydroureter, Vesicovaginal fistula OMIM:236700
Meckel Syndrome 14
Polycystic kidney dysplasia OMIM:619879
Coach Syndrome 1
Unilateral renal agenesis, Nephronophthisis, Multiple small medullary renal cysts, Stage 5 chroni... OMIM:216360
Prune Belly Syndrome
Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infections, Abnormality of the... ORPHA:2970
Joubert Syndrome 18
Horseshoe kidney, Renal cyst OMIM:614815
22Q11.2 Deletion Syndrome
Optic atrophy, Renal hypoplasia, Retinal arteriolar tortuosity, Vesicoureteral reflux, Hypocalcem... ORPHA:567
Verheij Syndrome
Renal cyst, Renal hypoplasia, Renal agenesis, Optic nerve hypoplasia OMIM:615583
Orofaciodigital Syndrome I
Hepatic cysts, Ovarian cyst, Proteinuria, Pancreatic cysts, Polycystic kidney dysplasia OMIM:311200
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Elevated circulating creatinine concentr... OMIM:137920
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Renal cyst, Multicystic kidney dysplasia, Chorioretinal coloboma ORPHA:2031
Intellectual Developmental Disorder, X-Linked 112
Enuresis nocturna, Enuresis, Dilatation of the renal pelvis, Horseshoe kidney, Pyelonephritis, Ve... OMIM:301111
Diaphanospondylodysostosis
Multiple renal cysts ORPHA:66637
Caroli Syndrome
Polycystic kidney dysplasia, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Abnormality of th... ORPHA:480520
Distal Deletion 12Q
Vesicoureteral reflux, Hydronephrosis, Ectopic kidney, Micropenis, Polycystic kidney dysplasia ORPHA:96149
Acrorenal-Mandibular Syndrome
Abnormality of the ureter, Polycystic kidney dysplasia, Renal agenesis, Aplasia of the bladder OMIM:200980
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Ureteral agenesis, Renal cyst, Renal hypoplasia, Renal dysplasia OMIM:236500
Hajdu-Cheney Syndrome
Hypospadias, Polycystic kidney dysplasia, Renal cyst OMIM:102500
Trisomy 13
Optic atrophy, Abnormality of the ureter, Displacement of the urethral meatus, Hydronephrosis, Ab... ORPHA:3378
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Horseshoe kidney, Renal cyst, Rod-cone dystrophy, Retinal degeneration ORPHA:166035
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Hypoautofluorescent retinal lesion, Horseshoe kidney, Retinal degeneration, Renal cyst, Rod-cone ... OMIM:250410
Meckel Syndrome, Type 1
Elevated amniotic fluid alpha-fetoprotein, Hypoplasia of the bladder, Renal agenesis, Abnormality... OMIM:249000
Aceruloplasminemia
Decreased circulating iron concentration, Macular degeneration, Increased circulating ferritin co... ORPHA:48818
Ogden Syndrome
Global glomerulosclerosis, Hyperbilirubinemia, Polycystic kidney dysplasia, Enlarged kidney OMIM:300855
Floating-Harbor Syndrome
Nephrocalcinosis, Dilatation of the renal pelvis, Renal agenesis, Stage 5 chronic kidney disease,... ORPHA:2044
Bor Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction ... ORPHA:107
Neuromuscular Oculoauditory Syndrome
Retinal pigment epithelial mottling, Reduced renal corticomedullary differentiation, Elevated cir... OMIM:618733
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Decrease... ORPHA:18
Trisomy X
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3375
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Renal cyst, Renal dysplasia OMIM:614922
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Renal hypoplasia/aplasia, ... ORPHA:2973
Axial Mesodermal Dysplasia Spectrum
Abnormality of the urinary system, Abnormality of the ureter, Renal hypoplasia/aplasia, Hydroneph... ORPHA:1834
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Renal cyst, Proximal tubulopathy OMIM:602579
Immunodeficiency 96
Conjunctival telangiectasia, Multicystic kidney dysplasia OMIM:619774
Polysyndactyly With Cardiac Malformation
Renal cyst, Hepatic cysts OMIM:263630
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Hyperbilirubinemia, Abnormal serum bile acid concentration, Renal cyst, Conjugated hy... ORPHA:79303
Joubert Syndrome 1
Nephropathy, Optic disc coloboma, Chorioretinal coloboma, Renal cyst, Optic disc pallor, Retinal ... OMIM:213300
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Nephritis, Renal insufficiency, Retinal degeneration, Proteinuria, Renal ... OMIM:208500
Meckel Syndrome, Type 10
Micropenis, Renal cyst, Hypospadias OMIM:614175
Peroxisome Biogenesis Disorder 4A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Renal cyst OMIM:614862
Joubert Syndrome 2
Nephronophthisis, Optic disc coloboma, Chorioretinal coloboma, Renal insufficiency, Renal cyst, R... OMIM:608091
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Renal hypoplasia, Hyperbilirubinemia, Renal cyst, Micropenis, Polycystic kidney dysplasia 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, Optic atrophy, Renal agenesis, Cystic renal dy... OMIM:220500
Joubert Syndrome 14
Optic atrophy, Renal cyst, Morning glory anomaly OMIM:614424
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Nephrocalcinosis, Hydroureter, Ureteral stenosis, Renal cyst, Hypercalciuria OMIM:615398
Hyperparathyroidism-Jaw Tumor Syndrome
Nephrocalcinosis, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithiasis, Renal cy... ORPHA:99880
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Acute kidney injury, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Renal insuff... ORPHA:93111
Meckel Syndrome, Type 5
Renal cyst OMIM:611561
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Proximal tubulopathy, Hypocholesterolemia, Proteinuria, Renal cyst, Rod-cone dys... OMIM:212065
3-Methylglutaconic Aciduria Type 7
Renal cyst, Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria ORPHA:445038
Parathyroid Carcinoma
Nephrocalcinosis, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithiasis, Renal cy... ORPHA:143
Zellweger Syndrome
Optic atrophy, Multicystic kidney dysplasia, Hydronephrosis, Hypospadias, Abnormal chorioretinal ... ORPHA:912
Mayer-Rokitansky-Kuster-Hauser Syndrome
Multicystic kidney dysplasia, Reduced renal corticomedullary differentiation, Polycystic ovaries,... OMIM:277000
Familial Adenomatous Polyposis 4
Renal cyst, Ovarian cyst OMIM:617100
Femoral-Facial Syndrome
Micropenis, Abnormal renal collecting system morphology, Polycystic kidney dysplasia, Renal agenesis OMIM:134780
Joubert Syndrome 5
Nephronophthisis, Retinal coloboma, Stage 5 chronic kidney disease, Renal cortical cysts, Reduced... OMIM:610188
Cystic Echinococcosis
Hyperbilirubinemia, Hepatic cysts, Ovarian cyst, Renal cyst, Membranous nephropathy ORPHA:400
Von Hippel-Lindau Disease
Retinal capillary hemangioma, Macular edema, Elevated urinary catecholamine level, Hypertensive r... ORPHA:892
Fliedner-Zweier Syndrome
Hydronephrosis, Unilateral renal agenesis, Multicystic kidney dysplasia OMIM:620511
Diaphanospondylodysostosis
Nephroblastomatosis, Horseshoe kidney, Nephrogenic rest, Enlarged kidney, Cystic renal dysplasia OMIM:608022
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Unilateral renal agenesis, Hydronephrosis, Renal cyst, Retinal detachment, Micropenis, Optic disc... ORPHA:464311
Severe Generalized Junctional Epidermolysis Bullosa
Multicystic kidney dysplasia, Hydroureter, Ureterocele, Urinary retention, Recurrent urinary trac... ORPHA:79404
Kleefstra Syndrome
Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Renal cyst, Micropenis, Hypoplasia of... ORPHA:261494
Khan-Khan-Katsanis Syndrome
Pigmentary retinopathy, Renal hypoplasia, Vesicoureteral reflux, Hydronephrosis, Renal cyst, Uret... OMIM:618460
Atelosteogenesis Type I
Retinal dysplasia, Multiple renal cysts ORPHA:1190
Beta-Thalassemia
Abnormality of iron homeostasis ORPHA:848
Thauvin-Robinet-Faivre Syndrome
Renal dysplasia, Retinal coloboma, Bifid ureter, Nephroblastoma, Renal cyst, Renal malrotation OMIM:617107
Vacterl/Vater Association
Multicystic kidney dysplasia, Abnormality of the urethra, Renal agenesis, Hydronephrosis, Ectopic... ORPHA:887
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad... OMIM:614527
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Acute kidney injury, Macular degeneration, Nephronophthisis, Attenuation of retinal blood vessels... OMIM:266920
Meckel Syndrome, Type 6
Horseshoe kidney, Renal cyst, Hepatic cysts, Aplasia of the bladder OMIM:612284
Von Hippel-Lindau Syndrome
Retinal capillary hemangioma, Multiple renal cysts, Renal cell carcinoma, Epididymal cyst, Pancre... OMIM:193300
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Nephrocalcinosis, Abnormality of the urinary system, Renal cyst, Hypercalciuria, Hypertriglycerid... ORPHA:369837
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia OMIM:618829
Cornelia De Lange Syndrome 1
Optic atrophy, Renal hypoplasia, Optic disc coloboma, Reduced renal corticomedullary differentiat... OMIM:122470
Transketolase Deficiency
Increased level of ribose in urine, Renal cyst, Elevated circulating ribitol concentration ORPHA:488618
Peutz-Jeghers Syndrome
Enlarged polycystic ovaries, Abnormality of the ureter, Multiple renal cysts, Renal cell carcinoma ORPHA:2869
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia OMIM:619980
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Multicystic kidney dysplasia, Septo-optic dysplasia ORPHA:3301
Meckel Syndrome, Type 2
Renal cyst OMIM:603194
Pearson Syndrome
Pigmentary retinopathy, Glycosuria, Hypomagnesemia, Renal insufficiency, Hypocalcemia, Hypokalemi... ORPHA:699
Tuberous Sclerosis 2
Renal angiomyolipoma, Renal cyst, Achromatic retinal patches, Renal cell carcinoma, Absence of re... OMIM:613254
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatic cysts, Enlarged kidney, Cystic renal dysplasia OMIM:615415
Campomelia, Cumming Type
Multicystic kidney dysplasia, Pancreatic cysts, Multiple renal cysts ORPHA:1318
Joubert Syndrome 21
Optic atrophy, Hyperechogenic kidneys, Retinopathy, Megalopapilla, Renal cyst OMIM:615636
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal hypoplasia, Microphallus, Optic disc coloboma, Vesicoureteral reflux, Hydronephrosis, Renal... OMIM:618454
17Q12 Microdeletion Syndrome
Multicystic kidney dysplasia, Renal insufficiency, Ureterocele, Renal hypoplasia/aplasia ORPHA:261265
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Multicystic kidney dysplasia, Fetal megacystis ORPHA:73246
Joubert Syndrome With Hepatic Defect
Nephropathy, Multicystic kidney dysplasia, Optic disc coloboma, Chorioretinal coloboma, Renal ins... ORPHA:1454
Meckel Syndrome, Type 3
Multicystic kidney dysplasia OMIM:607361
Trisomy 1Q
Congenital megaureter, Multicystic kidney dysplasia, Hydronephrosis ORPHA:261344
Tuberous Sclerosis 1
Renal angiomyolipoma, Renal cell carcinoma, Achromatic retinal patches, Renal cyst OMIM:191100
Ulbright-Hodes Syndrome
Abnormal penis morphology, Renal hypoplasia, Polycystic kidney dysplasia ORPHA:3404
Mosaic Variegated Aneuploidy Syndrome 1
Multicystic kidney dysplasia, Nephroblastoma, Renal cyst, Micropenis, Hypospadias OMIM:257300
Meckel Syndrome, Type 4
Renal cyst OMIM:611134
2P15P16.1 Microdeletion Syndrome
Hydronephrosis, Optic atrophy, Multicystic kidney dysplasia, Optic nerve hypoplasia ORPHA:261349
Trisomy 20P
Abnormality of the ureter, Hydronephrosis, Multiple renal cysts, Abnormality of the kidney, Abnor... ORPHA:261318
Harrod Syndrome
Multicystic kidney dysplasia, Hypospadias ORPHA:2115
Mosaic Trisomy 1
Micropenis, Renal cyst, Renal cortical cysts, Penile hypospadias ORPHA:1692
Dyrk1A-Related Intellectual Disability Syndrome
Unilateral renal agenesis, Hypospadias, Hydronephrosis, Renal cyst, Micropenis, Optic disc pallor... ORPHA:464306
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Pancreatic cysts, Stage 5 chronic kidney disease, Multiple glomerul... OMIM:267010
Trichohepatoenteric Syndrome 1
Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Galactosuria, Abno... OMIM:222470
Msh3-Related Attenuated Familial Adenomatous Polyposis
Renal cyst, Ovarian dermoid cyst ORPHA:480536
Beta-Thalassemia Intermedia
Abnormality of iron homeostasis, Proximal tubulopathy, Elevated hepatic iron concentration ORPHA:231222
Pallister-Hall Syndrome
Renal hypoplasia, Hydroureter, Distal urethral duplication, Hydronephrosis, Renal cyst, Micropeni... OMIM:146510
Marden-Walker Syndrome
Abnormal penis morphology, Multicystic kidney dysplasia, Abnormality of the urinary system, Hydro... ORPHA:2461
Branchio-Oculo-Facial Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Renal agenesis ORPHA:1297
Symptomatic Form Of Hfe-Related Hemochromatosis
Abnormality of iron homeostasis, Elevated transferrin saturation, Increased circulating ferritin ... ORPHA:465508
Alagille Syndrome 1
Focal segmental glomerulosclerosis, Pigmentary retinopathy, Renal hypoplasia, Multiple small medu... OMIM:118450
Radio-Renal Syndrome
Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia ORPHA:3015
Penile Agenesis
Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, H... ORPHA:49
Oculocerebrorenal Syndrome Of Lowe
Proximal renal tubular acidosis, Aminoaciduria, Nephrocalcinosis, Oligosacchariduria, Renal insuf... ORPHA:534
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Renal cyst OMIM:615560
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration, Renal insufficiency, Renal cyst OMIM:617478
Roberts-Sc Phocomelia Syndrome
Horseshoe kidney, Hypospadias, Long penis, Polycystic kidney dysplasia OMIM:268300
Mckusick-Kaufman Syndrome
Multicystic kidney dysplasia, Glandular hypospadias, Renal hypoplasia/aplasia, Urethral stricture... ORPHA:2473
2Q37 Microdeletion Syndrome
Multicystic kidney dysplasia, Nephroblastoma ORPHA:1001
Lymphangioleiomyomatosis
Optic atrophy, Abnormal urinary color, Hematuria, Renal angiomyolipoma, Multiple renal cysts, Ren... ORPHA:538
Mosaic Trisomy 9
Horseshoe kidney, Hydronephrosis, Multiple renal cysts, Hypoplasia of penis, Renal dysplasia ORPHA:99776
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Multicystic kidney dysplasia, Optic nerve dysplasia, Elevated circulating creatine kinase concent... OMIM:615287
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Chorioretinal coloboma, Horseshoe kidney, Renal hypoplasia/aplasia,... ORPHA:2092
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias ORPHA:2075
Cutis Marmorata Telangiectatica Congenita
Multicystic kidney dysplasia, Retinal detachment, Displacement of the urethral meatus ORPHA:1556
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Renal cyst, Renal dysplasia OMIM:617260
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Retinal coloboma, Bifid ureter, Nephroblastoma, Renal malrotation, ... ORPHA:500095
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Hydroureter, Megacystis ORPHA:2241
Fryns Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Vesicoureteral reflux, Hypospadias ORPHA:2059
Alveolar Echinococcosis
Abnormal bladder morphology, Renal cyst, Pancreatic cysts, Hepatic cysts ORPHA:284
Smith-Lemli-Opitz Syndrome
Hypoalbuminemia, Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Hypocholesterolemia... OMIM:270400
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia ORPHA:261197
D-Bifunctional Protein Deficiency
Increased circulating very long-chain fatty acid concentration, Renal cyst OMIM:261515
Histiocytoid Cardiomyopathy
Optic atrophy, Renal cyst, Polycystic ovaries ORPHA:137675
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Optic atrophy, Vesicoureteral reflux, Hypospadias, Renal cyst OMIM:616975
Genitopatellar Syndrome
Hydronephrosis, Multicystic kidney dysplasia ORPHA:85201
Kaposiform Lymphangiomatosis
Pancreatic cysts, Multiple renal cysts, Enlarged kidney ORPHA:464329
Spondylocarpotarsal Synostosis Syndrome
Renal cyst, Abnormality of retinal pigmentation OMIM:272460
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal cyst, Renal hypoplasia OMIM:616300
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Crossed fused renal ectopia, Rena... ORPHA:2538
Smith-Lemli-Opitz Syndrome
Optic atrophy, Multicystic kidney dysplasia, Abnormal localization of kidney, Ureteropelvic junct... ORPHA:818
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal blood inorganic cation concentration, Increased total iron binding capacity, Hyperglycin... ORPHA:309854
Meckel Syndrome
Optic atrophy, Multicystic kidney dysplasia, Urethral atresia, Ureteral duplication, Pancreatic c... ORPHA:564
Bardet-Biedl Syndrome
Chronic kidney disease, Decreased HDL cholesterol concentration, Horseshoe kidney, Vesicoureteral... ORPHA:110
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Cystic renal dysplasia OMIM:200995
Beckwith-Wiedemann Syndrome
Nephropathy, Vesicoureteral reflux, Nephroblastoma, Choroideremia, Nephrolithiasis, Hypercalciuri... ORPHA:116
Fryns Syndrome
Renal agenesis, Hydronephrosis, Renal cyst, Ureteral duplication, Hypospadias OMIM:229850
Dominant Beta-Thalassemia
Abnormality of iron homeostasis ORPHA:231226
Pagod Syndrome
Optic atrophy, Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:991
1P36 Deletion Syndrome
Optic atrophy, Ocular albinism, Hydronephrosis, Renal cyst, Abnormality of the kidney, Hypoplasia... ORPHA:1606
Schinzel-Giedion Syndrome
Abnormality of the ureter, Nephroblastoma, Nephrolithiasis, Hydronephrosis, Renal cyst, Micropeni... ORPHA:798
Attenuated Familial Adenomatous Polyposis
Multiple renal cysts ORPHA:220460
Williams Syndrome
Polycystic ovaries, Renal insufficiency, Renal duplication, Multiple renal cysts, Renovascular hy... ORPHA:904
Cranioectodermal Dysplasia 2
Renal cyst, Hyperbilirubinemia, Renal insufficiency OMIM:613610
Short-Rib Thoracic Dysplasia 12
Renal hypoplasia, Cystic renal dysplasia OMIM:269860
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Renal cyst, Hypospadias, Optic nerve hypoplasia ORPHA:495875
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Hydronephrosis, Pancreatic cysts ORPHA:2750
Beta-Thalassemia Major
Abnormality of iron homeostasis ORPHA:231214
Simpson-Golabi-Behmel Syndrome
Multicystic kidney dysplasia, Hydroureter, Nephroblastoma, Hydronephrosis, Ureteral duplication, ... ORPHA:373
Cerebrocostomandibular Syndrome
Horseshoe kidney, Renal cyst, Ectopic kidney OMIM:117650
Autosomal Recessive Robinow Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Hypoplasia of penis ORPHA:1507
Proteus Syndrome
Retinal nonattachment, Long penis, Chorioretinal coloboma, Abnormality of retinal pigmentation, E... ORPHA:744
Tetrasomy 9P
Recurrent urinary tract infections, Horseshoe kidney, Hydronephrosis, Multiple renal cysts, Micro... ORPHA:3310
Mosaic Variegated Aneuploidy Syndrome
Multicystic kidney dysplasia, Nephroblastoma ORPHA:1052
Osteopathia Striata With Cranial Sclerosis
Multicystic kidney dysplasia OMIM:300373
Townes-Brocks Syndrome
Renal hypoplasia, Chorioretinal coloboma, Renal insufficiency, Vesicoureteral reflux, Multiple re... ORPHA:857
Hajdu-Cheney Syndrome
Multiple renal cysts, Hypospadias ORPHA:955
Distal Deletion 15Q
Micropenis, Abnormal localization of kidney, Multicystic kidney dysplasia, Hypospadias ORPHA:1596
Robinow Syndrome
Webbed penis, Multicystic kidney dysplasia, Hydronephrosis, Micropenis ORPHA:97360
Trisomy 10P
Multiple renal cysts, Abnormality of the kidney ORPHA:171929
Jacobsen Syndrome
Hydronephrosis, Multicystic kidney dysplasia ORPHA:2308
Peters Plus Syndrome
Optic atrophy, Multicystic kidney dysplasia, Renal duplication, Renal hypoplasia/aplasia, Hydrone... ORPHA:709
Townes-Brocks Syndrome 1
Multicystic kidney dysplasia, Renal hypoplasia, Chorioretinal coloboma, Renal insufficiency, Vesi... OMIM:107480
Cerebrocostomandibular Syndrome
Multicystic kidney dysplasia ORPHA:1393
Branchiooculofacial Syndrome
Renal cyst, Hypospadias, Renal agenesis, Retinal coloboma OMIM:113620
Simpson-Golabi-Behmel Syndrome, Type 1
Duplication of renal pelvis, Nephroblastoma, Hydronephrosis, Renal cyst, Hypospadias, Enlarged ki... OMIM:312870
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Renal hypoplasia, Hydronephrosis, Renal cyst, Hypoplasia of penis, Urethrovaginal fistula ORPHA:93271
C Syndrome
Horseshoe kidney, Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:1308
Cornelia De Lange Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Hypoplasia of penis, Hy... ORPHA:199
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Webbed penis, Multicystic kidney dysplasia, Retinal coloboma, Vesicoureteral reflux, Renal duplic... ORPHA:261537
Mowat-Wilson Syndrome
Webbed penis, Multicystic kidney dysplasia, Retinal coloboma, Vesicoureteral reflux, Renal duplic... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Webbed penis, Optic atrophy, Multicystic kidney dysplasia, Duplication of renal pelvis, Retinal c... ORPHA:261552
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal agenesis, Hypospadias, Renal dyspl... OMIM:308205
Genitopatellar Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Micropenis OMIM:606170
Pmm2-Cdg
Hypoalbuminemia, Reduced thyroxin-binding globulin, Photoreceptor layer loss on macular OCT, Prot... ORPHA:79318
Pallister-Killian Syndrome
Renal cyst, Hypospadias, Renal dysplasia OMIM:601803
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Renal agenesis, Vesicoureteral reflux, Ureteropelvic junction obstr... 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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