Gene Summary

Name:
polynucleotide kinase 3'- phosphatase
Synonyms:
PNK,  1810009G08Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
single kidney Pnkpem1(IMPC)Mbp HET Early adult 0.00
preweaning lethality, complete penetrance Pnkpem1(IMPC)Mbp HOM   Early adult 0.00
abnormal skin morphology Pnkpem1(IMPC)Mbp HET Early adult 0.00
microphthalmia Pnkpem1(IMPC)Mbp HET Early adult 0.00
abnormal eye morphology Pnkpem1(IMPC)Mbp HET Early adult 0.00
abnormal kidney morphology Pnkpem1(IMPC)Mbp HET Early adult 0.00
enlarged kidney Pnkpem1(IMPC)Mbp HET Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Pnkp 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 Pnkp by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Microcephaly, Seizures, And Developmental Delay
Hypoplasia of the corpus callosum, Cerebellar atrophy, Simplified gyral pattern, Microcephaly, Pr... OMIM:613402
Ataxia-Oculomotor Apraxia 4
Cerebellar atrophy OMIM:616267
Early Infantile Epileptic Encephalopathy
Diffuse white matter abnormalities, Pachygyria, Hypoplasia of the corpus callosum, Cerebellar atr... ORPHA:1934
Ataxia-Oculomotor Apraxia Type 4
ORPHA:459033
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
OMIM:605589

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Xeroderma Pigmentosum, Complementation Group G
Microcephaly, Defective DNA repair after ultraviolet radiation damage OMIM:278780
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Neurofaciodigitorenal Syndrome
Unilateral renal agenesis OMIM:256690
Xeroderma Pigmentosum, Autosomal Dominant, Mild
Defective DNA repair after ultraviolet radiation damage OMIM:194400
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Unilateral renal agenesis OMIM:235740
Immunodeficiency, Common Variable, 6
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Hepatomegaly, ... OMIM:613496
Renal Hypoplasia
Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth... ORPHA:93101
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Aniridia, Unilateral renal agenesis OMIM:206750
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Cryptorchidism, Unilateral Or Bilateral
Renal agenesis OMIM:219050
Nephronophthisis 16
Nephronophthisis, Renal insufficiency, Polycystic kidney dysplasia, Enlarged kidney OMIM:615382
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bilateral renal agenesis, Ureteral atresia, Unilateral renal agenesis OMIM:618845
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Hydroneph... OMIM:617805
Radial-Renal Syndrome
Unilateral renal agenesis, Ectopic kidney OMIM:179280
Xeroderma Pigmentosum, Complementation Group F
Aplasia/Hypoplasia involving the central nervous system, Defective DNA repair after ultraviolet r... OMIM:278760
Autosomal Recessive Primary Microcephaly
Vesicoureteral reflux, Unilateral renal agenesis ORPHA:2512
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Nephrotic s... OMIM:616002
Nanophthalmos 4
Microphthalmia OMIM:615972
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Unilateral renal agenesis OMIM:601355
Aa Amyloidosis
Acute kidney injury, Renal amyloidosis, Enlarged kidney, Nephropathy, Hepatomegaly, Chronic kidne... ORPHA:85445
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Microcephaly, Seizures, And Developmental Delay
Hypoplasia of the corpus callosum, Cerebellar atrophy, Simplified gyral pattern, Microcephaly, Pr... OMIM:613402
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Absence of renal corticomedullary differentiation, Stage 5 chr... OMIM:602088
Microcephaly 20, Primary, Autosomal Recessive
Renal hypoplasia, Optic nerve hypoplasia, Microphthalmia, Hyperechogenic kidneys OMIM:617914
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Renal agenesis, Unilateral renal agenesis, Ectopic kidney OMIM:601076
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Gombo Syndrome
Microphthalmia OMIM:233270
Microphthalmia, Isolated, With Coloboma 6
Optic disc hypoplasia, Hypoplasia of the fovea, Bilateral microphthalmos OMIM:613703
Bladder Exstrophy And Epispadias Complex
Horseshoe kidney, Hydroureter, Unilateral renal agenesis, Bladder exstrophy, Epispadias OMIM:600057
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Micropenis, Unilateral renal agenesis OMIM:244200
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
De Sanctis-Cacchione Syndrome
Microcephaly, Cerebellar atrophy, Defective DNA repair after ultraviolet radiation damage, Olivop... OMIM:278800
Holzgreve Syndrome
Renal hypoplasia, Renal agenesis OMIM:236110
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Oligomeganephronia
Decreased numbers of nephrons, Proteinuria, Unilateral renal agenesis, Abnormality of medullary p... ORPHA:2260
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Unilateral renal agenesis ORPHA:281090
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Tubulointerstitial fibrosis, Enlarged kidney, Hepatomegaly, Absence of renal corticomedullary dif... OMIM:263200
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Renal sarcoma, Hydroureter, Mult... OMIM:143400
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Hydronephrosis, Microphthalmia, Abnormal localization of kidney ORPHA:195
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal dysplasia, Renal cyst, Renal agenesis, Abnormality of the kidney OMIM:615993
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Hematuria, Microphthalmia OMIM:120433
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Microphthalmia ORPHA:2432
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Renal Agenesis
Renal insufficiency, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Unilateral rena... ORPHA:411709
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic kidney, Horseshoe kidney, Abnormality of the kidney, Unilateral renal agenesis ORPHA:3109
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Micropenis, Unilateral renal agenesis OMIM:618142
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Faciothoracogenital Syndrome
Glandular hypospadias, Microphthalmia OMIM:227320
Bilateral Frontoparietal Polymicrogyria
Hypoplasia of the brainstem, Cerebellar vermis hypoplasia, Cerebellar dysplasia, Increased head c... ORPHA:101070
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Unilateral renal agenesis OMIM:608406
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Unilateral renal agenesis ORPHA:1064
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal tubular ... OMIM:613092
Autosomal Dominant Polycystic Kidney Disease
Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, Recurrent urinary tract infections, Decr... ORPHA:730
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Bilateral microphthalmos, Anophthalmia OMIM:611638
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Cystic renal dysplasia, Enlarged kidney OMIM:615415
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Braddock Syndrome
Unilateral renal agenesis ORPHA:52047
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Renal agenesis, Horseshoe kidney, Bifid ureter, Decreased numbers of nephrons, Renal hypoplasia, ... OMIM:617641
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Coach Syndrome 1
Nephronophthisis, Unilateral renal agenesis, Hepatomegaly, Renal cyst, Stage 5 chronic kidney dis... OMIM:216360
Cutis Laxa, Autosomal Dominant 3
Unilateral renal agenesis OMIM:616603
Thymic-Renal-Anal-Lung Dysplasia
Renal agenesis, Ureteral dysgenesis, Ureteral agenesis OMIM:274265
Inverted Duplicated Chromosome 15 Syndrome
Unilateral renal agenesis ORPHA:3306
Nanophthalmos
Microphthalmia ORPHA:35612
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Ehlers-Danlos Syndrome, Classic-Like
Vesicoureteral reflux, Unilateral renal agenesis OMIM:606408
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Congenital Disorder Of Glycosylation, Type Iil
Hyperechogenic kidneys, Proximal tubulopathy, Unilateral renal agenesis, Hepatomegaly, Splenomegaly OMIM:614576
Renal Cysts And Diabetes Syndrome
Abnormal renal morphology, Decreased numbers of nephrons, Renal hypoplasia, Proteinuria, Unilater... OMIM:137920
Coloboma Of Macula With Type B Brachydactyly
Renal agenesis OMIM:120400
Klippel-Feil Syndrome 1, Autosomal Dominant
Unilateral renal agenesis, Abnormality of the kidney OMIM:118100
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hydroureter, Abnormality of the bladder, Microphthalmia, Abnormality of the upper urinary tract, ... ORPHA:2547
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Horseshoe kidney, Recurrent urinary tract infections, Unilateral renal agenesis, Hypospadias, Mic... ORPHA:363444
Biemond Syndrome Type 2
Hypospadias, Microphthalmia ORPHA:141333
Papillorenal Syndrome
Renal malrotation, Horseshoe kidney, Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureter... OMIM:120330
Williams-Beuren Region Duplication Syndrome
Unilateral renal agenesis, Hydronephrosis OMIM:609757
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis OMIM:158330
Dihydropyrimidine Dehydrogenase Deficiency
Uraciluria, Microphthalmia OMIM:274270
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Joubert Syndrome 22
Renal hypoplasia, Microphthalmia OMIM:615665
Xeroderma Pigmentosum, Complementation Group A
Microcephaly, Defective DNA repair after ultraviolet radiation damage OMIM:278700
Microgastria-Limb Reduction Defects Association
Horseshoe kidney, Cystic renal dysplasia, Unilateral renal agenesis, Anophthalmia, Pelvic kidney OMIM:156810
Meckel Syndrome, Type 8
Hyperechogenic kidneys, Microphthalmia, Anophthalmia OMIM:613885
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Hepatomegaly, Hydronephrosis, Polycystic kidney dysplasia, Cardiomegaly, Long-ch... OMIM:608836
Emanuel Syndrome
Renal hypoplasia, Micropenis, Unilateral renal agenesis ORPHA:96170
Kallmann Syndrome With Spastic Paraplegia
Micropenis, Unilateral renal agenesis OMIM:308750
Thymic Aplasia With Fetal Death
Renal agenesis, Ureteral agenesis OMIM:274210
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Renal hypoplasia, Ketonuria, Microphthalmia, Hepatomegaly OMIM:619053
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Enlarged kidney, Renal tubular atrophy, Hepatomegaly, Splenom... OMIM:617303
Isolated Optic Nerve Hypoplasia/Aplasia
Unilateral microphthalmos, Optic disc hypoplasia, Aplasia/Hypoplasia of the iris, Vesicoureteral ... ORPHA:137902
Diaphanospondylodysostosis
Cystic renal dysplasia, Nephrogenic rest, Nephroblastomatosis, Enlarged kidney OMIM:608022
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Renal agenesis, Unilateral renal agenesis OMIM:619227
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Renal dysplasia, Unilateral renal agenesis, Multicystic kidney dysplasia OMIM:308205
Short Stature, Microcephaly, And Endocrine Dysfunction
Renal hypoplasia, Micropenis, Ectopic kidney, Unilateral renal agenesis OMIM:616541
Oculogastrointestinal Neurodevelopmental Syndrome
Horseshoe kidney, Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Unilateral renal agenesis OMIM:618419
Bresek Syndrome
Hypoplasia of the bladder, Renal hypoplasia, Renal dysplasia, Vesicoureteral reflux, Optic nerve ... ORPHA:85284
Mmep Syndrome
Microphthalmia ORPHA:3434
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Macroscopic hematuria, Proteinuria, Enlarged kidney ORPHA:251004
Seckel Syndrome 2
Hypospadias, Ectopic kidney, Microphthalmia OMIM:606744
Crome Syndrome
Renal tubular epithelial necrosis, Microcephaly, Cerebellar dysplasia OMIM:218900
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Micropenis, Unilateral renal agenesis OMIM:308700
Nager Syndrome
Unilateral renal agenesis ORPHA:245
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hepatomegaly, Renal dysplasia, Ureteral atresia, Polycystic kidney dysplasia, Re... OMIM:208540
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Xeroderma Pigmentosum, Complementation Group D
Microcephaly, Defective DNA repair after ultraviolet radiation damage OMIM:278730
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Renal dysplasia, Vesicoureteral reflux, Hydronephrosis, Polycystic kid... ORPHA:2237
Cenani-Lenz Syndactyly Syndrome
Renal hypoplasia, Renal agenesis OMIM:212780
Matthew-Wood Syndrome
Horseshoe kidney, Renal hypoplasia, Vesicoureteral reflux, Microphthalmia, Anophthalmia ORPHA:2470
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Renal hypoplasia, Recurrent urinary tract infections, Unilateral renal... OMIM:614527
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Enlarged kidney, Decreased glomerular filtration rate, Hepato... OMIM:232200
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Hematuria, Microphthalmia ORPHA:1473
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Dextrocardia With Unusual Facies And Microphthalmia
Microphthalmia, Anophthalmia OMIM:221950
Xeroderma Pigmentosum, Complementation Group E
Defective DNA repair after ultraviolet radiation damage OMIM:278740
Methylmalonic Acidemia With Homocystinuria Type Cblf
Methylmalonic aciduria, Unilateral renal agenesis ORPHA:79284
Schizophrenia 1
Renal agenesis, Partially duplicated kidney, Ectopic kidney OMIM:181510
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Enlarged kidney, Decreased glomerular filtration rate, Hepato... OMIM:232220
Tyrosinemia, Type I
Enlarged kidney, Glomerular sclerosis, Hepatomegaly, Splenomegaly, Renal Fanconi syndrome, Renal ... OMIM:276700
Takenouchi-Kosaki Syndrome
Hypospadias, Unilateral renal agenesis, Hydronephrosis OMIM:616737
Endocrine-Cerebroosteodysplasia
Microphallus, Enlarged kidney, Hyperechogenic kidneys, Hypospadias, Micropenis OMIM:612651
Cockayne Syndrome Type 3
Neurogenic bladder, Hydroureter, Renal hypoplasia, Unilateral renal agenesis, Hepatomegaly, Urina... ORPHA:90324
Congenital Primary Aphakia
Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia, Microphthalmia ORPHA:83461
Microphthalmia, Isolated 3
Microphthalmia, Anophthalmia OMIM:611038
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Bilateral microphthalmos OMIM:608763
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Xeroderma Pigmentosum, Complementation Group C
Defective DNA repair after ultraviolet radiation damage OMIM:278720
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Microphallus, Abnormal renal collecting system morphology, Unilateral renal agenesis, Bilateral m... ORPHA:468631
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Renal dysplasia, Renal agenesis, Ectopic kidney ORPHA:2578
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Recurrent urinary tract infections, Optic nerve hypoplasia, Unilateral renal agenesis ORPHA:221139
Igg4-Related Kidney Disease
Ureteral obstruction, Hematuria, Acute kidney injury, Albuminuria, Enlarged kidney, Abnormal uret... ORPHA:449395
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Micropenis, Polycystic kidney dysplasia, Enlarged kidney OMIM:613091
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Cystic renal dysplasia, Enlarged kidney OMIM:200995
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Unilateral renal agenesis, Renal cyst, Hydronephrosis, Pelvic kidney, Hypospadias, Micropenis ORPHA:464311
Kaposiform Lymphangiomatosis
Splenomegaly, Multiple renal cysts, Hepatosplenomegaly, Enlarged kidney ORPHA:464329
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Trichothiodystrophy
Diffuse cerebellar atrophy, Defective DNA repair after ultraviolet radiation damage, Cerebral dys... ORPHA:33364
Pierpont Syndrome
Micropenis, Microphthalmia OMIM:602342
7Q11.23 Microduplication Syndrome
Hypospadias, Unilateral renal agenesis, Enuresis, Hydronephrosis ORPHA:96121
Acrodysostosis 1 With Or Without Hormone Resistance
Unilateral renal agenesis OMIM:101800
Beckwith-Wiedemann Syndrome
Renal cortical cysts, Enlarged kidney, Hepatomegaly, Pancreatic hyperplasia, Vesicoureteral reflu... OMIM:130650
H Syndrome
Hepatosplenomegaly, Micropenis, Abnormality of the kidney, Enlarged kidney ORPHA:168569
Dyrk1A-Related Intellectual Disability Syndrome
Unilateral renal agenesis, Renal cyst, Hydronephrosis, Pelvic kidney, Hypospadias, Micropenis ORPHA:464306
Fanconi Anemia, Complementation Group E
Microcephaly, Deficient excision of UV-induced pyrimidine dimers in DNA OMIM:600901
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Nephroblastoma, Microphthalmia OMIM:602501
Fanconi Anemia, Complementation Group I
Abnormal renal morphology, Horseshoe kidney, Renal hypoplasia, Vesicoureteral reflux, Optic nerve... OMIM:609053
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Heparan sulfate excretion in urine, Nephrotic syndrome, Urinary glycosaminoglyca... ORPHA:505248
Cofs Syndrome
Microphthalmia ORPHA:1466
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Ring Chromosome 10 Syndrome
Renal hypoplasia/aplasia, Microphthalmia ORPHA:1438
Fanconi Anemia, Complementation Group A
Microcephaly, Deficient excision of UV-induced pyrimidine dimers in DNA OMIM:227650
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Mild proteinuria, Stage 5 chronic kidney disease OMIM:614377
Meckel Syndrome, Type 2
Renal cyst, Microphthalmia OMIM:603194
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hypoplasia of the iris, Unilateral renal agenesis, Bilateral renal agenesis, Hydroureter OMIM:619194
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Trisomy 13
Multiple renal cysts, Aplasia/Hypoplasia of the iris, Abnormality of the ureter, Hydronephrosis, ... ORPHA:3378
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Microphthalmia OMIM:212550
Cockayne Syndrome
Abnormal renal physiology, Neurogenic bladder, Renal hypoplasia, Unilateral renal agenesis, Urina... ORPHA:191
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Enlarged kidney ORPHA:276280
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly, Microphthalmia ORPHA:858
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Renal agenesis ORPHA:2155
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial fibrosis, Renal hypoplasia, Glomerular sclerosis, Renal salt wasting, Renal tu... OMIM:174000
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Optic nerve hypoplasia, Unilateral renal agenesis ORPHA:457284
Acrorenal Syndrome, Autosomal Recessive
Renal hypoplasia, Renal insufficiency, Decreased numbers of nephrons OMIM:201310
Fanconi Anemia, Complementation Group D2
Deficient excision of UV-induced pyrimidine dimers in DNA, Hypoplasia of the corpus callosum, Pat... OMIM:227646
Pierpont Syndrome
Microphthalmia ORPHA:487825
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Smith-Lemli-Opitz Syndrome
Renal hypoplasia, Unilateral renal agenesis, Ureteropelvic junction obstruction, Renal cyst, Hydr... OMIM:270400
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microphthalmia ORPHA:1528
Fanconi Anemia, Complementation Group C
Microcephaly, Deficient excision of UV-induced pyrimidine dimers in DNA OMIM:227645
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Joubert Syndrome 14
Renal cyst, Microphthalmia OMIM:614424
Coloboma, Ocular, Autosomal Dominant
Vesicoureteral reflux, Optic nerve aplasia, Microphthalmia OMIM:120200
Fanconi Anemia, Complementation Group L
Renal hypoplasia, Micropenis, Microphthalmia OMIM:614083
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Enlarged polycystic ovaries, Abnormality of the urinary system, Unilateral renal agenesis, Vesico... ORPHA:95699
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia OMIM:214150
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Neurofaciodigitorenal Syndrome
Unilateral renal agenesis ORPHA:2673
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Ventriculomegaly With Defects Of The Radius And Kidney
Renal agenesis, Ureteral duplication, Horseshoe kidney, Ectopic kidney OMIM:602200
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Enlarged kidney, Recurrent urinary tract infections, Oliguria, Reduced renal... ORPHA:731
Acrofacial Dysostosis 1, Nager Type
Unilateral renal agenesis OMIM:154400
Warburg Micro Syndrome 1
Microphthalmia OMIM:600118
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Congenital Rubella Syndrome
Hepatomegaly, Aplasia/Hypoplasia of the iris, Microphthalmia, Splenomegaly ORPHA:290
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Renal hypoplasia, Microphthalmia, Lens coloboma OMIM:618914
Leopard Syndrome 1
Hypospadias, Micropenis, Unilateral renal agenesis OMIM:151100
Cerebrooculofacioskeletal Syndrome 2
Micropenis, Microphthalmia OMIM:610756
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Tubulointerstitial fibrosis, Enlarged kidney, Hepatomegaly, Stage 5 chronic kidney disease, Nephr... ORPHA:79259
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Bifid ureter, Enlarged kidney, Multicystic kidney dysplasia, Nephroblastoma ORPHA:500095
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Beckwith-Wiedemann Syndrome
Multiple renal cysts, Enlarged kidney, Congenital megaureter, Visceromegaly, Nephropathy, Hepatom... ORPHA:116
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Microphthalmia OMIM:613153
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia ORPHA:48431
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Microphthalmia OMIM:618805
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Unilateral renal agenesis, Hydronephrosis ORPHA:487796
Penoscrotal Transposition
Penoscrotal transposition, Abnormality of the ureter, Renal dysplasia, Abnormality of the urethra... ORPHA:2842
Oculoauricular Syndrome
Macular hypoplasia, Microphakia, Microphthalmia OMIM:612109
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Chordee, Unilateral renal agenesis, Recurrent urinary tract infections, Hypospadias, Micropenis, ... ORPHA:268261
Zttk Syndrome
Horseshoe kidney, Unilateral renal agenesis, Polyuria OMIM:617140
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Hypospadias, Microphthalmia, Anophthalmia OMIM:615877
Microphthalmia, Syndromic 5
Micropenis, Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:610125
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia ORPHA:93267
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypospadias, Microphthalmia, Hypoplasia of penis, Anophthalmia ORPHA:77298
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Meckel Syndrome, Type 5
Abnormality of the urinary system, Microphthalmia OMIM:611561
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia ORPHA:35173
Meckel Syndrome, Type 4
Renal cyst, Microphthalmia OMIM:611134
Duane-Radial Ray Syndrome
Crossed fused renal ectopia, Renal malrotation, Horseshoe kidney, Optic disc hypoplasia, Renal hy... OMIM:607323
Temtamy Syndrome
Microphthalmia ORPHA:1777
Leprechaunism
Long penis, Enlarged kidney, Enlarged ovaries, Hepatomegaly, Hypercalciuria, Nephrocalcinosis ORPHA:508
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Marden-Walker Syndrome
Renal hypoplasia, Hypospadias, Micropenis, Microphthalmia OMIM:248700
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia OMIM:612530
Distal 22Q11.2 Microduplication Syndrome
Unilateral renal agenesis ORPHA:261337
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Microphthalmia OMIM:615181
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia OMIM:615113
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Anterior Segment Dysgenesis 5
Hypoplasia of the iris, Rieger anomaly, Hypoplasia of the fovea, Microphthalmia OMIM:604229
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Hydronephrosis, Microphthalmia, Pelvic kidney OMIM:613001
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Refsum Disease
Renal insufficiency, Microphthalmia, Splenomegaly ORPHA:773
Joubert Syndrome 2
Abnormal renal physiology, Nephronophthisis, Renal cyst, Microphthalmia OMIM:608091
Fanconi Anemia, Complementation Group F
Microphallus, Renal hypoplasia, Vesicoureteral reflux, Microphthalmia, Pelvic kidney OMIM:603467
Norrie Disease
Hypoplasia of the iris, Microphthalmia OMIM:310600
Cat Eye Syndrome
Renal agenesis, Microphthalmia OMIM:115470
Frontonasal Dysplasia 1
Microphthalmia OMIM:136760
Congenital Fibrinogen Deficiency
Right ventricular hypertrophy, Left ventricular hypertrophy, Micropenis, Microphthalmia ORPHA:335
Serkal Syndrome
Abnormal penis morphology, Renal agenesis, Hypoplasia of the bladder, Hypospadias ORPHA:139466
Rere-Related Neurodevelopmental Syndrome
Hypospadias, Vesicoureteral reflux, Microphthalmia ORPHA:494344
Meckel Syndrome 12
Renal hypoplasia, Renal agenesis, Ureteral hypoplasia OMIM:616258
Fraser Syndrome 2
Renal hypoplasia, Renal agenesis, Aplasia of the bladder OMIM:617666
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Proteinuria, Microphthalmia, Multiple bladder diverticula ORPHA:2728
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis
Renal agenesis OMIM:192050
Baraitser-Winter Syndrome 1
Micropenis, Microphthalmia OMIM:243310
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Vesicoureteral reflux, Microphthalmia OMIM:600123
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia ORPHA:2788
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:85194
Pseudotrisomy 13 Syndrome
Renal hypoplasia, Renal agenesis, Micropenis, Microphthalmia OMIM:264480
Ataxia-Oculomotor Apraxia 4
Cerebellar atrophy OMIM:616267
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia OMIM:601794
Digeorge Syndrome
Renal dysplasia, Unilateral renal agenesis, Hydronephrosis OMIM:188400
Micro Syndrome
Hydronephrosis, Microphthalmia, Hypoplasia of penis, Abnormal localization of kidney ORPHA:2510
Autosomal Dominant Keratitis
Aniridia, Bilateral microphthalmos, Macular hypoplasia, Hypoplastic iris stroma, Hypoplasia of th... ORPHA:2334
Spondyloepiphyseal Dysplasia, Nishimura Type
Oligosacchariduria, Microphthalmia ORPHA:163649
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Neurooculocardiogenitourinary Syndrome
Cardiomegaly, Microphthalmia OMIM:618652
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Microphthalmia, Multicystic kidney dysplasia ORPHA:3301
Moebius Syndrome
Micropenis, Microphthalmia OMIM:157900
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Stevenson-Carey Syndrome
Recurrent urinary tract infections, Microphthalmia OMIM:611961
Pallister-Hall Syndrome
Bilateral renal agenesis, Unilateral renal agenesis, Renal dysplasia, Ectopic kidney, Microphthal... ORPHA:672
Microphthalmia, Syndromic 9
Renal malrotation, Horseshoe kidney, Renal hypoplasia, Anophthalmia, Bilateral microphthalmos, Hy... OMIM:601186
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Microphthalmia, Syndromic 3
Optic nerve hypoplasia, Microphthalmia, Anophthalmia, Hypospadias, Micropenis OMIM:206900
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microphthalmia OMIM:614833
Kapur-Toriello Syndrome
Microphthalmia, Hypoplasia of penis ORPHA:2328
Gracile Bone Dysplasia
Aniridia, Micropenis, Microphthalmia OMIM:602361
Skin Creases, Congenital Symmetric Circumferential, 2
Hypospadias, Microphthalmia OMIM:616734
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia ORPHA:3191
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Galloway-Mowat Syndrome 3
Glomerular sclerosis, Microphthalmia, Stage 5 chronic kidney disease, Nephrotic syndrome, Diffuse... OMIM:617729
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Horseshoe kidney, Bilateral renal dysplasia, Optic nerve hypoplasia, Unilateral renal agenesis ORPHA:500150
Microgastria-Limb Reduction Defect Syndrome
Crossed fused renal ectopia, Renal agenesis, Horseshoe kidney, Multicystic kidney dysplasia, Hepa... ORPHA:2538
Warburg Micro Syndrome 4
Micropenis, Microphthalmia OMIM:615663
Warburg Micro Syndrome 3
Micropenis, Microphthalmia OMIM:614222
Hemifacial Microsomia
Multicystic kidney dysplasia, Ureteropelvic junction obstruction, Vesicoureteral reflux, Ectopic ... OMIM:164210
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Acro-Renal-Ocular Syndrome
Crossed fused renal ectopia, Renal malrotation, Horseshoe kidney, Optic disc hypoplasia, Bladder ... ORPHA:959
Mosaic Trisomy 9
Multiple renal cysts, Horseshoe kidney, Renal dysplasia, Hydronephrosis, Microphthalmia, Hypoplas... ORPHA:99776
Anterior Segment Dysgenesis 2
Microphthalmia, Aniridia, Congenital aphakia, Anterior segment of eye aplasia OMIM:610256
Monosomy 18P
Microphthalmia ORPHA:1598
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Microphthalmia OMIM:152950
Nasopalpebral Lipoma-Coloboma Syndrome
Bilateral microphthalmos, Microphthalmia ORPHA:2399
Simpson-Golabi-Behmel Syndrome, Type 1
Enlarged kidney, Hepatomegaly, Nephroblastoma, Duplication of renal pelvis, Renal cyst, Splenomeg... OMIM:312870
Pallister-Hall Syndrome
Hydroureter, Renal hypoplasia, Renal dysplasia, Renal cyst, Microphthalmia, Ectopic kidney, Hydro... OMIM:146510
Stromme Syndrome
Bilateral renal hypoplasia, Optic nerve hypoplasia, Microphthalmia, Hydronephrosis OMIM:243605
Mosaic Trisomy 1
Penile hypospadias, Renal cortical cysts, Renal cyst, Microphthalmia, Micropenis ORPHA:1692
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
3Q29 Microdeletion Syndrome
Hypospadias, Horseshoe kidney, Microphthalmia ORPHA:65286
Multiple Benign Circumferential Skin Creases On Limbs
Hypospadias, Microphthalmia ORPHA:2505
8Q24.3 Microdeletion Syndrome
Unilateral renal agenesis, Bilateral microphthalmos, Bilateral renal hypoplasia, Vesicoureteral r... ORPHA:508488
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe OMIM:615249
Warburg Micro Syndrome 2
Micropenis, Microphthalmia OMIM:614225
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia OMIM:206920
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal hypoplasia, Renal cyst, Microphthalmia OMIM:616300
Pelvis-Shoulder Dysplasia
Microphthalmia OMIM:169550
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Microphthalmia, Lenz Type
Hydroureter, Hydronephrosis, Microphthalmia, Hypospadias, Renal hypoplasia/aplasia ORPHA:568
Vacterl With Hydrocephalus
Renal hypoplasia/aplasia, Renal agenesis, Microphthalmia, Anophthalmia ORPHA:3412
Walker-Warburg Syndrome
Microphthalmia, Hypoplasia of penis, Anophthalmia ORPHA:899
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Fryns Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Microphthalmia, Hypospadias ORPHA:2059
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Renal dysplasia, Microphthalmia OMIM:618571
Chondrodysplasia Punctata 2, X-Linked Dominant
Hydronephrosis, Microphthalmia OMIM:302960
Kapur-Toriello Syndrome
Abnormality of the urinary system, Micropenis, Microphthalmia OMIM:244300
Fanconi Anemia, Complementation Group S
Microphthalmia OMIM:617883
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Martsolf Syndrome 1
Micropenis, Microphthalmia OMIM:212720
Hydrolethalus
Microphthalmia, Anophthalmia ORPHA:2189
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Teebi-Shaltout Syndrome
Horseshoe kidney, Ureteral stenosis, Hydronephrosis, Microphthalmia OMIM:272950
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic nerve hypoplasia, Microphthalmia ORPHA:370959
Chromosome 13Q33-Q34 Deletion Syndrome
Hypospadias, Left ventricular hypertrophy, Penoscrotal transposition, Microphthalmia OMIM:619148
Galloway-Mowat Syndrome 1
Focal segmental glomerulosclerosis, Hypoplasia of the iris, Microphthalmia, Nephrotic syndrome, R... OMIM:251300
Focal Dermal Hypoplasia
Horseshoe kidney, Multicystic kidney dysplasia, Hypoplasia of the iris, Hydronephrosis, Microphth... ORPHA:2092
Sandestig-Stefanova Syndrome
Microphthalmia OMIM:618804
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia ORPHA:139471
Rodrigues Blindness
Microphthalmia OMIM:268320
Cousin Syndrome
Hydronephrosis, Microphthalmia OMIM:260660
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia ORPHA:228390
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia, Bilateral microphthalmos OMIM:607597
Otodental Syndrome
Microphthalmia, Lens coloboma ORPHA:2791
Frontofacionasal Dysplasia
Microphthalmia ORPHA:1791
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Hydronephrosis, Microphthalmia, Male urethral meatus stenosis ORPHA:464738
Mycophenolate Mofetil Embryopathy
Ectopic kidney, Microphthalmia ORPHA:268249
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Renal insufficiency, Renal agenesis, Acute kidney injury, Horseshoe kidney, Multicystic kidney dy... ORPHA:93111
Holoprosencephaly-Postaxial Polydactyly Syndrome
Abnormal localization of kidney, Hypospadias, Microphthalmia, Hypoplasia of penis, Renal hypoplas... ORPHA:2166
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Renal agenesis, Horseshoe kidney, Renal hypoplasia, Optic nerve hypoplasia, Microphthalmia, Pelvi... ORPHA:508498
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia OMIM:615145
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
8Q21.11 Microdeletion Syndrome
Microphthalmia, Hypoplasia of penis ORPHA:284160
Lumbar Syndrome
Vesicoureteral reflux, Bladder exstrophy, Hypospadias, Renal agenesis, Micropenis, Renal duplication ORPHA:83628
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Pelvis-Shoulder Dysplasia
Hydronephrosis, Bilateral microphthalmos ORPHA:2839
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Bilateral microphthalmos OMIM:600122
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos OMIM:610758
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia OMIM:234050
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Hypoplasia of penis, Anophthalmia ORPHA:2250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Curry-Jones Syndrome
Microphthalmia OMIM:601707
Histiocytoid Cardiomyopathy
Congenital aphakia, Hepatomegaly, Renal cyst, Cardiomegaly, Microphthalmia ORPHA:137675
Meckel Syndrome
Urethral atresia, Aplasia/Hypoplasia of the iris, Multicystic kidney dysplasia, Microphthalmia, A... ORPHA:564
Steinfeld Syndrome
Microphthalmia, Unilateral renal dysplasia OMIM:184705
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia ORPHA:404440
Trisomy 18
Hydronephrosis, Microphthalmia, Abnormality of the upper urinary tract ORPHA:3380
Tetraamelia Syndrome 1
Urethral atresia, Renal agenesis, Microphthalmia OMIM:273395
1Q21.1 Microdeletion Syndrome
Vesicoureteral reflux, Hydronephrosis, Microphthalmia ORPHA:250989
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Renal hypoplasia/aplasia, Microphthalmia, Abnormal localization of kidney ORPHA:3186
3Q29 Microduplication Syndrome
Aniridia, Microphthalmia ORPHA:251038
Fanconi Anemia
Abnormal renal morphology, Hydroureter, Abnormality of the urinary system, Aplasia/Hypoplasia of ... ORPHA:84
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia ORPHA:1352
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Micropenis, Microphthalmia, Chordee OMIM:309801
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bilateral microphthalmos ORPHA:369891
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Ritscher-Schinzel Syndrome 3
Microphthalmia OMIM:619135
Adams-Oliver Syndrome
Microphthalmia ORPHA:974
Oculocerebrorenal Syndrome Of Lowe
Buphthalmos, Abnormal renal tubule morphology, Multiple renal cysts, Hematuria, Oligosacchariduri... ORPHA:534
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Buphthalmos, Renal dysplasia, Optic nerve hypoplasia, Microphthalmia OMIM:236670
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypospadias, Vesicoureteral reflux, Renal cyst, Microphthalmia OMIM:616975
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
Meckel Syndrome, Type 1
Hypoplasia of the bladder, Abnormality of the ureter, Polycystic kidney dysplasia, Microphthalmia... OMIM:249000
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Dubowitz Syndrome
Hypoplasia of the iris, Hypospadias, Microphthalmia OMIM:223370
Fryns Syndrome
Renal agenesis, Renal cyst, Microphthalmia, Hydronephrosis, Hypospadias, Ureteral duplication OMIM:229850
Mosaic Variegated Aneuploidy Syndrome
Nephroblastoma, Microphthalmia, Multicystic kidney dysplasia ORPHA:1052
Jacobsen Syndrome
Macular hypoplasia, Hypospadias, Microphthalmia OMIM:147791
Trichothiodystrophy 1, Photosensitive
Microphthalmia OMIM:601675
Cockayne Syndrome B
Hypoplasia of the iris, Hepatomegaly, Microphthalmia, Splenomegaly, Renal insufficiency, Micropen... OMIM:133540
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Holoprosencephaly
Abnormality of the urinary system, Anophthalmia, Microphthalmia, Hypoplasia of penis, Proteinuria ORPHA:2162
Hallermann-Streiff Syndrome
Microphthalmia OMIM:234100
Subaortic Stenosis--Short Stature Syndrome
Microphthalmia OMIM:271960
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Microphthalmia OMIM:601552
Townes-Brocks Syndrome
Multiple renal cysts, Renal hypoplasia, Urethral valve, Vesicoureteral reflux, Ectopic kidney, Mi... ORPHA:857
Bosma Arhinia Microphthalmia Syndrome
Hypospadias, Micropenis, Microphthalmia OMIM:603457
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia OMIM:610651
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Monosomy 9Q22.3
Nephroblastoma, Microphthalmia ORPHA:77301
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Phthisis bulbi, Microphthalmia OMIM:221900
Frontorhiny
Microphthalmia ORPHA:391474
Fraser Syndrome
Urethral atresia, Renal hypoplasia, Anophthalmia, Multicystic kidney dysplasia, Microphthalmia, H... ORPHA:2052
Oculodentodigital Dysplasia
Neurogenic bladder, Microphthalmia OMIM:164200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia OMIM:613150
Cohen Syndrome
Microphthalmia ORPHA:193
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Holoprosencephaly 9
Micropenis, Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:610829
Roberts Syndrome
Polycystic kidney dysplasia, Microphthalmia, Long penis ORPHA:3103
Bartsocas-Papas Syndrome 1
Micropenis, Microphthalmia, Ectopic kidney OMIM:263650
22Q11.2 Deletion Syndrome
Multiple renal cysts, Renal hypoplasia, Vesicoureteral reflux, Microphthalmia, Polycystic kidney ... ORPHA:567
Renpenning Syndrome 1
Renal hypoplasia, Hypospadias, Phimosis, Microphthalmia OMIM:309500
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Micropenis, Microphthalmia OMIM:617925
Monosomy 9P
Hypospadias, Ureteropelvic junction obstruction, Microphthalmia ORPHA:261112
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Microphthalmia OMIM:614643
Microphthalmia With Limb Anomalies
Horseshoe kidney, True anophthalmia, Microphthalmia ORPHA:1106
Momo Syndrome
Bilateral microphthalmos ORPHA:2563
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Microphthalmia OMIM:253800
Phace Association
Optic nerve hypoplasia, Microphthalmia OMIM:606519
Charge Syndrome
Horseshoe kidney, Vesicoureteral reflux, Hydronephrosis, Microphthalmia, Anophthalmia, Micropenis ORPHA:138
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Horseshoe kidney, Hypospadias, Micropenis, Microphthalmia OMIM:609945
Charge Syndrome
Horseshoe kidney, Renal hypoplasia, Hydronephrosis, Microphthalmia, Anophthalmia, Renal agenesis,... OMIM:214800
Incontinentia Pigmenti
Hypoplasia of the fovea, Microphthalmia OMIM:308300
Treacher-Collins Syndrome
Microphthalmia, Hypoplasia of penis ORPHA:861
Focal Dermal Hypoplasia
Aniridia, Horseshoe kidney, Bifid ureter, Hydronephrosis, Microphthalmia, Anophthalmia, Ureteral ... OMIM:305600
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Lowe Oculocerebrorenal Syndrome
Hyperphosphaturia, Aminoaciduria, Bicarbonaturia, Proximal renal tubular acidosis, Microphthalmia... OMIM:309000
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Microphthalmia, Anophthalmia, Hypospadias, Epispadias ORPHA:2556
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia ORPHA:1236
Osteoporosis-Pseudoglioma Syndrome
Phthisis bulbi, Microphthalmia OMIM:259770
Isolated Arrhinia
Microphthalmia ORPHA:1134
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia ORPHA:364577
Incontinentia Pigmenti
Microphthalmia ORPHA:464
Fraser Syndrome 1
Renal hypoplasia, Bilateral microphthalmos, Anophthalmia, Hypospadias, Renal hypoplasia/aplasia, ... OMIM:219000
Yunis-Varon Syndrome
Renovascular hypertension, Bilateral microphthalmos, Microphthalmia, Cardiomegaly, Hypospadias, M... ORPHA:3472
Basal Cell Nevus Syndrome
Microphthalmia OMIM:109400
Linear Nevus Sebaceus Syndrome
Microphthalmia ORPHA:2612
Rothmund-Thomson Syndrome, Type 2
Microphthalmia OMIM:268400
Witteveen-Kolk Syndrome
Hypospadias, Microphallus, Microphthalmia, Micropenis OMIM:613406
Hydrolethalus Syndrome 1
Hypospadias, Hydronephrosis, Microphthalmia OMIM:236680
Oculo-Palato-Cerebral Syndrome
Microphthalmia ORPHA:2714
Hallermann-Streiff Syndrome
Microphthalmia ORPHA:2108
Neu-Laxova Syndrome 1
Renal agenesis, Microphthalmia OMIM:256520
Acrofrontofacionasal Dysostosis 1
Microphthalmia OMIM:201180
Fontaine Progeroid Syndrome
Left ventricular hypertrophy, Micropenis, Microphthalmia OMIM:612289
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Anophthalmia ORPHA:2526
Microphthalmia, Syndromic 6
Renal hypoplasia, Microphthalmia, Anophthalmia, Hypospadias, Micropenis OMIM:607932
Aicardi Syndrome
Microphthalmia ORPHA:50
Branchiooculofacial Syndrome
Renal agenesis, Renal cyst, Microphthalmia, Anophthalmia, Hypospadias OMIM:113620
Aicardi Syndrome
Microphthalmia OMIM:304050
Phace Syndrome
Optic nerve hypoplasia, Microphthalmia, Lens coloboma ORPHA:42775
Microphthalmia, Syndromic 2
Hypospadias, Phthisis bulbi, Microphthalmia, Anophthalmia OMIM:300166
Kenny-Caffey Syndrome, Type 2
Microphthalmia OMIM:127000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hypoplasia of the retina, Buphthalmos, Microphthalmia OMIM:253280
Myhre Syndrome
Microphthalmia OMIM:139210
2Q31.1 Microdeletion Syndrome
Microphthalmia ORPHA:251014
Mend Syndrome
Microphthalmia ORPHA:401973
Holoprosencephaly 2
Microphthalmia OMIM:157170
Roberts-Sc Phocomelia Syndrome
Horseshoe kidney, Long penis, Polycystic kidney dysplasia, Microphthalmia, Hypospadias OMIM:268300
Microphthalmia, Syndromic 1
Hydroureter, Renal hypoplasia, Microphthalmia, Anophthalmia, Hypospadias, Renal hypoplasia/aplasia OMIM:309800
Monosomy 13Q14
Microphthalmia ORPHA:1587
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Chordee, Micropenis, Multicystic kidney dysplasia, Urinary incontinence, Vesicoureteral reflux, H... ORPHA:261537
Frontofacionasal Dysplasia
Microphthalmia OMIM:229400
Mowat-Wilson Syndrome
Chordee, Micropenis, Renal duplication, Multicystic kidney dysplasia, Urinary incontinence, Vesic... ORPHA:2152
Early Infantile Epileptic Encephalopathy
Diffuse white matter abnormalities, Pachygyria, Hypoplasia of the corpus callosum, Cerebellar atr... ORPHA:1934
Holoprosencephaly 1
Micropenis, Microphthalmia OMIM:236100
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Chordee, Micropenis, Multicystic kidney dysplasia, Urinary incontinence, Vesicoureteral reflux, D... ORPHA:261552
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia ORPHA:306542
Mowat-Wilson Syndrome
Hypospadias, Abnormality of the kidney, Microphthalmia OMIM:235730
Holoprosencephaly 7
Bilateral microphthalmos OMIM:610828
Adams-Oliver Syndrome 1
Microphthalmia OMIM:100300
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:649
Autosomal Dominant Kenny-Caffey Syndrome
Bilateral microphthalmos ORPHA:93325
Treacher Collins Syndrome 1
Bilateral microphthalmos OMIM:154500
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hypoplasia of the iris, Microphthalmia OMIM:175780
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
OMIM:605589
Ataxia-Oculomotor Apraxia Type 4
ORPHA:459033

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 Pnkp

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 Pnkp.

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

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MGI Allele Allele Type Produced
Pnkptm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pnkptm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Pnkptm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pnkpem1(IMPC)Mbp Inter-exon deletion Mice

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