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Gene: Cuta MGI:1914925

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Gene Summary

Name:
cutA divalent cation tolerance homolog
Synonyms:
CutA,  2700094G22Rik,  1810022E02Rik,  1810060C03Rik,  0610039D01Rik

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
abnormal kidney morphology Cutaem1(IMPC)Mbp HOM Late adult 0.00
preweaning lethality, incomplete penetrance Cutaem1(IMPC)Mbp HOM   Early adult 0.00
enlarged kidney Cutaem1(IMPC)Mbp HOM Late adult 0.00
abnormal eye morphology Cutaem1(IMPC)Mbp HOM Late adult 0.00
microphthalmia Cutaem1(IMPC)Mbp HOM Late adult 0.00
abnormal liver morphology Cutaem1(IMPC)Mbp HOM Late adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

39 Images

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X-ray

XRay Images Whole Body Lateral Orientation

6 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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X-ray

XRay Images Whole Body Dorso Ventral

19 Images

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Human diseases caused by Cuta 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 Cuta by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... OMIM:617610
Hepatorenocardiac Degenerative Fibrosis
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp... OMIM:619902
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Cholestasis, Periportal fibrosis, Polycystic... OMIM:615382
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... OMIM:613496
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Meckel Syndrome, Type 8
Anophthalmia, Polycystic kidney dysplasia, Microphthalmia, Hyperechogenic kidneys, Enlarged kidney OMIM:613885
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Hepatomegaly, Enlarged kidney OMIM:615285
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Nephro... ORPHA:85445
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... OMIM:263200
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Hepatomegaly ORPHA:2432
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypert... OMIM:208540
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Gombo Syndrome
Microphthalmia OMIM:233270
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... OMIM:602088
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ... OMIM:615415
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Pancreatic cys... ORPHA:730
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos OMIM:611638
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Nanophthalmos
Microphthalmia ORPHA:35612
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia, Ectopic kidney, Cystic renal dysplasia, Hepatomegaly OMIM:613730
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria, Microphthalmia OMIM:120433
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea... OMIM:614377
Nanophthalmos 4
Microphthalmia OMIM:615972
Cat-Eye Syndrome
Microphthalmia, Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia ORPHA:195
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated hepatic transaminase, Hepatomegaly, Ureteral duplication, Renal insufficiency, Renal dys... OMIM:608836
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Splenomegaly, Neph... OMIM:232220
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Nephrolithiasis, Focal segmental glomer... OMIM:232200
Tyrosinemia, Type I
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Renal insufficiency, Splenome... OMIM:276700
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... ORPHA:731
Diaphanospondylodysostosis
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Abnormal liver lobulation, Cystic renal ... OMIM:608022
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Uraciluria OMIM:274270
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia, Ketonuria, Renal hypoplasia, Hepatomegaly OMIM:619053
Matthew-Wood Syndrome
Anophthalmia, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Horseshoe kidney, Abnormal sp... ORPHA:2470
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Hydroureter, Abnormality of the upper urinary tract, Abnormality of the blad... ORPHA:2547
Biemond Syndrome Type 2
Microphthalmia, Hypospadias ORPHA:141333
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Meckel Syndrome, Type 5
Microphthalmia, Bile duct proliferation, Renal cyst OMIM:611561
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Splenomegaly, Nephrotic syndrome, Focal segmental glomerulosclerosis, ... OMIM:617303
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Microphthalmia, Hepati... OMIM:618805
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Cystic renal dysplasia, Enlarge... OMIM:200995
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Jaundice, Microphthalmia ORPHA:858
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Mmep Syndrome
Microphthalmia ORPHA:3434
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Joubert Syndrome 22
Microphthalmia, Renal hypoplasia OMIM:615665
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Seckel Syndrome 2
Microphthalmia, Hypospadias, Ectopic kidney OMIM:606744
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Enlarged kidney, Macroscopic hematuria ORPHA:251004
Igg4-Related Kidney Disease
Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nephritis, Cholecy... ORPHA:449395
Bresek Syndrome
Hypoplasia of the bladder, Optic nerve hypoplasia, Renal hypoplasia, Vesicoureteral reflux, Micro... ORPHA:85284
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... OMIM:194080
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos, Horseshoe kidney OMIM:619318
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Bilateral renal agenesis, Microphtha... OMIM:617914
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Hematuria, Microphthalmia ORPHA:1473
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... OMIM:610805
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Vesicoureteral reflux, Renal cortical cysts, ... OMIM:130650
Kaposiform Lymphangiomatosis
Pancreatic cysts, Splenomegaly, Hepatosplenomegaly, Abnormal spleen morphology, Multiple renal cy... ORPHA:464329
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Proteinuria, Hepatocellular adenoma, Stage 5 chronic kidney disease, Nephrolithiasi... ORPHA:79259
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Meckel Syndrome, Type 2
Microphthalmia, Bile duct proliferation, Renal cyst OMIM:603194
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia OMIM:218670
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... OMIM:120330
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Congenital Rubella Syndrome
Hepatomegaly, Splenomegaly, Jaundice, Aplasia/Hypoplasia of the iris, Microphthalmia ORPHA:290
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia ORPHA:1528
Lymphoid Interstitial Pneumonia
Hepatomegaly, Enlarged kidney ORPHA:79128
Cofs Syndrome
Microphthalmia ORPHA:1466
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Hepatomegaly, Unilateral microphthalmos OMIM:615085
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Pierpont Syndrome
Microphthalmia, Micropenis OMIM:602342
Joubert Syndrome 37
Microphthalmia, Micropenis, Hydronephrosis, Hepatomegaly OMIM:619185
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Unilateral renal agenesis, Splenic cyst OMIM:618188
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
H Syndrome
Micropenis, Abnormality of the kidney, Enlarged kidney, Hepatosplenomegaly ORPHA:168569
Developmental And Epileptic Encephalopathy 1
Microphthalmia, Micropenis OMIM:308350
Alg9-Cdg
Hepatomegaly, Hypoplasia of the bladder, Hepatic cysts, Ureteral hypoplasia, Periportal fibrosis,... ORPHA:79328
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia OMIM:613091
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Proteinuria, Heparan sulfate excretion in urine, Hepatosplenomegaly, Nephrotic syndrome, Heavy pr... ORPHA:505248
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Meckel Syndrome, Type 4
Microphthalmia, Bile duct proliferation, Renal cyst OMIM:611134
Pierpont Syndrome
Microphthalmia ORPHA:487825
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia, Nephroblastoma OMIM:602501
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Endocrine-Cerebroosteodysplasia
Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney OMIM:612651
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Trisomy 13
Anophthalmia, Displacement of the urethral meatus, Abnormality of the ureter, Aplasia/Hypoplasia ... ORPHA:3378
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Abnormal renal morphology, Renal hypoplasia, Horseshoe kidney, Vesicouret... OMIM:609053
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Warburg Micro Syndrome 1
Microphthalmia OMIM:600118
Beckwith-Wiedemann Syndrome
Hepatomegaly, Ureteral duplication, Cardiomegaly, Splenomegaly, Abnormal pancreas morphology, Ves... ORPHA:116
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Renal agenesis, Cardiomegaly, Asplenia, Biliary atresia, Horseshoe kidney, Abdomina... OMIM:306955
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Hydronephrosis, Microphthalmia, Renal hypoplasia, Unilateral renal agenesis OMIM:618494
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Cardiomegaly, Splenomegaly, Mucopolysacchariduria, Enlarged kidney OMIM:252500
Gracile Bone Dysplasia
Asplenia, Micropenis, Aniridia, Microphthalmia, Hypoplastic spleen OMIM:602361
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia ORPHA:48431
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Congenital Fibrinogen Deficiency
Splenic rupture, Left ventricular hypertrophy, Microphthalmia, Micropenis, Right ventricular hype... ORPHA:335
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia, Biliary tract abnormality ORPHA:3191
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Methylmalonic aciduria, Elevated urinary aminoisobutyric ... OMIM:614105
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma, Renal hypoplasia OMIM:618914
Ring Chromosome 10 Syndrome
Microphthalmia, Renal hypoplasia/aplasia ORPHA:1438
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia, Micropenis OMIM:610756
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia OMIM:613155
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Optic nerve hypoplasia OMIM:615181
Lissencephaly 8
Microphthalmia OMIM:617255
Temtamy Syndrome
Microphthalmia ORPHA:1777
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Enlarged kidney ORPHA:276280
Meacham Syndrome
Accessory spleen, Enlarged kidney, Horseshoe kidney OMIM:608978
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia OMIM:604229
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Microphthalmia OMIM:613153
Fanconi Anemia, Complementation Group R
Microphthalmia, Pelvic kidney OMIM:617244
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia OMIM:300887
Microphthalmia, Syndromic 5
Microphthalmia, Micropenis, Anophthalmia, Optic nerve hypoplasia OMIM:610125
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia ORPHA:93267
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Ogden Syndrome
Global glomerulosclerosis, Cardiomegaly, Microvesicular hepatic steatosis, Jaundice, Macrovesicul... OMIM:300855
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Hypoplasia of penis, Anophthalmia, Hypospadias ORPHA:77298
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Nephroblastoma, Bifid ureter, Enlarged kidney ORPHA:500095
Coloboma, Ocular, Autosomal Dominant
Microphthalmia, Optic nerve aplasia, Vesicoureteral reflux OMIM:120200
Neurooculocardiogenitourinary Syndrome
Microphthalmia, Cardiomegaly OMIM:618652
Leprechaunism
Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Enlarged kidney ORPHA:508
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia OMIM:601794
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Fraser Syndrome 2
Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Aplasia of the bl... OMIM:617666
Glycogen Storage Disease Of Heart, Lethal Congenital
Enlarged kidney, Cardiomegaly OMIM:261740
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... ORPHA:2334
Congenital Disorder Of Glycosylation, Type Iq
Elevated hepatic transaminase, Microphthalmia OMIM:612379
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Helsmoortel-Van Der Aa Syndrome
Recurrent urinary tract infections, Enlarged kidney, Enuresis nocturna OMIM:615873
Rere-Related Neurodevelopmental Syndrome
Vesicoureteral reflux, Microphthalmia, Hypospadias ORPHA:494344
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia ORPHA:2788
Marden-Walker Syndrome
Microphthalmia, Micropenis, Hypospadias, Renal hypoplasia OMIM:248700
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Refsum Disease
Splenomegaly, Microphthalmia, Renal insufficiency ORPHA:773
Frontonasal Dysplasia 1
Microphthalmia OMIM:136760
Duane-Radial Ray Syndrome
Renal malrotation, Optic disc hypoplasia, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Ves... OMIM:607323
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia OMIM:214150
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia, Oligosacchariduria ORPHA:163649
Mosaic Trisomy 9
Hypoplasia of penis, Asplenia, Horseshoe kidney, Hydronephrosis, Abnormal liver lobulation, Multi... ORPHA:99776
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:85194
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia OMIM:614833
Moebius Syndrome
Microphthalmia, Micropenis OMIM:157900
Fanconi Anemia, Complementation Group A
Duplicated collecting system, Renal agenesis, Ectopic kidney, Abnormal renal morphology, Horsesho... OMIM:227650
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Microphthalmia, Pelvic kidney, Hydronephrosis OMIM:613001
Cardiac-Urogenital Syndrome
Accessory spleen, Hepatopulmonary fusion, Enlarged kidney, Patent urachus, Micropenis, Penoscrota... OMIM:618280
Anterior Segment Dysgenesis 2
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia OMIM:610256
Baraitser-Winter Syndrome 1
Microphthalmia, Micropenis OMIM:243310
Cat Eye Syndrome
Renal agenesis, Biliary atresia, Horseshoe kidney, Vesicoureteral reflux, Microphthalmia, Hydrone... OMIM:115470
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Anophthalmia, Renal agenesis, Renal hypoplasia/aplasi... ORPHA:2538
Fanconi Anemia, Complementation Group F
Renal hypoplasia, Microphallus, Vesicoureteral reflux, Microphthalmia, Pelvic kidney OMIM:603467
Meckel Syndrome
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Anophthalmia, Pancreatic fi... ORPHA:564
Stromme Syndrome
Accessory spleen, Optic nerve hypoplasia, Bilateral renal hypoplasia, Microphthalmia, Hydronephrosis OMIM:243605
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Micro Syndrome
Microphthalmia, Hypoplasia of penis, Hydronephrosis, Abnormal localization of kidney ORPHA:2510
Microphthalmia, Syndromic 9
Renal malrotation, Anophthalmia, Bilateral microphthalmos, Multilobulated spleen, Renal hypoplasi... OMIM:601186
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Fanconi Anemia, Complementation Group E
Duplicated collecting system, Renal agenesis, Ectopic kidney, Horseshoe kidney, Microphthalmia OMIM:600901
Stevenson-Carey Syndrome
Microphthalmia, Recurrent urinary tract infections OMIM:611961
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Mosaic Trisomy 1
Hepatic agenesis, Renal cortical cysts, Renal cyst, Microphthalmia, Micropenis, Penile hypospadias ORPHA:1692
Microphthalmia, Lenz Type
Hydroureter, Hypospadias, Renal hypoplasia/aplasia, Microphthalmia, Hydronephrosis ORPHA:568
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia, Proteinuria, Multiple bladder diverticula ORPHA:2728
Warburg Micro Syndrome 4
Microphthalmia, Micropenis OMIM:615663
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Hypospadias, Splenomegaly, Renal cyst, Duplication of renal pelvis, Pancreatic isle... OMIM:312870
Tetraamelia-Multiple Malformations Syndrome
Microphthalmia, Septo-optic dysplasia, Multicystic kidney dysplasia ORPHA:3301
Joubert Syndrome 14
Microphthalmia, Renal cyst OMIM:614424
Kapur-Toriello Syndrome
Microphthalmia, Hypoplasia of penis ORPHA:2328
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe OMIM:615249
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia OMIM:152950
Pierson Syndrome
Diffuse mesangial sclerosis, Rieger anomaly, Hypoplasia of the ciliary body, Proteinuria, Stage 5... OMIM:609049
Monosomy 18P
Microphthalmia ORPHA:1598
Fanconi Anemia, Complementation Group D2
Duplicated collecting system, Renal agenesis, Ectopic kidney, Horseshoe kidney, Micropenis, Micro... OMIM:227646
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia, Hypospadias, Hydronephrosis OMIM:616449
Meckel Syndrome 14
Microphthalmia, Hepatic fibrosis, Polycystic kidney dysplasia OMIM:619879
Adams-Oliver Syndrome
Microphthalmia, Congenital hepatic fibrosis, Cirrhosis, Portal hypertension ORPHA:974
Congenital Muscular Dystrophy With Cerebellar Involvement
Microphthalmia, Optic nerve hypoplasia ORPHA:370959
Temtamy Syndrome
Microphthalmia OMIM:218340
Hydrolethalus
Microphthalmia, Anophthalmia ORPHA:2189
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Pallister-Hall Syndrome
Renal dysplasia, Hydroureter, Distal urethral duplication, Ectopic kidney, Renal hypoplasia, Rena... OMIM:146510
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Glo... OMIM:617729
Pseudotrisomy 13 Syndrome
Microphthalmia, Micropenis, Renal agenesis, Renal hypoplasia OMIM:264480
Warburg Micro Syndrome 3
Microphthalmia, Micropenis OMIM:614222
Sandestig-Stefanova Syndrome
Microphthalmia OMIM:618804
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Rodrigues Blindness
Microphthalmia OMIM:268320
Acro-Renal-Ocular Syndrome
Renal malrotation, Optic disc hypoplasia, Renal hypoplasia/aplasia, Horseshoe kidney, Bladder div... ORPHA:959
Joubert Syndrome 2
Microphthalmia, Renal insufficiency, Renal cyst, Nephronophthisis OMIM:608091
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia ORPHA:139471
Walker-Warburg Syndrome
Microphthalmia, Hypoplasia of penis, Anophthalmia ORPHA:899
Fanconi Anemia, Complementation Group S
Microphthalmia OMIM:617883
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia, Hydronephrosis ORPHA:35173
Fanconi Anemia, Complementation Group C
Duplicated collecting system, Renal agenesis, Ectopic kidney, Horseshoe kidney, Microphthalmia OMIM:227645
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia, Hypospadias ORPHA:2505
3Q29 Microdeletion Syndrome
Microphthalmia, Hypospadias, Horseshoe kidney ORPHA:65286
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Microphthalmia, Micropenis OMIM:241410
Focal Dermal Hypoplasia
Acute hepatic failure, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Horseshoe kidney, ... ORPHA:2092
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Elevated hepatic transaminase, Portal hypertension, Renal hypoplasia, Macronodu... OMIM:620005
Fryns Syndrome
Multicystic kidney dysplasia, Hypospadias, Vesicoureteral reflux, Microphthalmia, Hydronephrosis ORPHA:2059
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Hypoplasia of the iris, Nephrotic ... OMIM:251300
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia ORPHA:228390
Otodental Syndrome
Microphthalmia, Lens coloboma ORPHA:2791
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia, Renal dysplasia OMIM:618571
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Male urethral meatus stenosis, Microphthalmia, Cholelithiasis, Hydronephrosis ORPHA:464738
Kapur-Toriello Syndrome
Microphthalmia, Micropenis, Abnormality of the urinary system OMIM:244300
Pelvis-Shoulder Dysplasia
Microphthalmia OMIM:169550
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia ORPHA:404440
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Cockayne Syndrome Type 3
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Neurogenic bladder, Hydroureter... ORPHA:90324
Warburg Micro Syndrome 2
Microphthalmia, Micropenis OMIM:614225
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia OMIM:206920
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Teebi-Shaltout Syndrome
Microphthalmia, Ureteral stenosis, Hydronephrosis, Horseshoe kidney OMIM:272950
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Chromosome 13Q33-Q34 Deletion Syndrome
Left ventricular hypertrophy, Microphthalmia, Penoscrotal transposition, Hypospadias OMIM:619148
Trichothiodystrophy 3, Photosensitive
Microphthalmia OMIM:616395
Frontofacionasal Dysplasia
Microphthalmia ORPHA:1791
Steinfeld Syndrome
Microphthalmia, Unilateral renal dysplasia, Absent gallbladder OMIM:184705
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Bilateral microphthalmos ORPHA:2399
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia, Hypospadias OMIM:615877
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bilateral microphthalmos ORPHA:369891
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia, Hydronephrosis OMIM:302960
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Martsolf Syndrome 1
Microphthalmia, Micropenis OMIM:212720
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia OMIM:615145
Fanconi Anemia, Complementation Group L
Microphthalmia, Micropenis, Renal hypoplasia, Unilateral renal agenesis OMIM:614083
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hypospadias, Optic nerve hypoplasia, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Micropht... ORPHA:508498
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Histiocytoid Cardiomyopathy
Hepatomegaly, Cardiomegaly, Renal cyst, Microphthalmia, Congenital aphakia ORPHA:137675
Vacterl With Hydrocephalus
Microphthalmia, Anophthalmia, Renal agenesis, Renal hypoplasia/aplasia ORPHA:3412
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
1Q21.1 Microdeletion Syndrome
Vesicoureteral reflux, Microphthalmia, Hydronephrosis ORPHA:250989
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Buphthalmos OMIM:310600
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Hypospadias, Optic nerve hypoplasia, Microphthalmia, Micropenis OMIM:206900
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microphthalmia, Renal hypoplasia, Renal cyst OMIM:616300
8Q21.11 Microdeletion Syndrome
Microphthalmia, Hypoplasia of penis ORPHA:284160
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia OMIM:620098
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia OMIM:612530
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia OMIM:234050
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia, Micropenis OMIM:614230
Meckel Syndrome, Type 1
Accessory spleen, Hypoplasia of the bladder, Renal agenesis, Malformation of the hepatic ductal p... OMIM:249000
Mycophenolate Mofetil Embryopathy
Microphthalmia, Ectopic kidney ORPHA:268249
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Abnormal localization of kidney, Micr... ORPHA:2166
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
3Q29 Microduplication Syndrome
Aniridia, Microphthalmia ORPHA:251038
Fanconi Anemia
Recurrent urinary tract infections, Hydroureter, Hypospadias, Renal insufficiency, Renal hypoplas... ORPHA:84
Pelvis-Shoulder Dysplasia
Bilateral microphthalmos, Hydronephrosis ORPHA:2839
Fryns Syndrome
Ureteral duplication, Ectopic pancreatic tissue, Hypospadias, Renal agenesis, Renal cyst, Polyspl... OMIM:229850
Ritscher-Schinzel Syndrome 3
Microphthalmia OMIM:619135
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Hypoplasia of penis, Anophthalmia ORPHA:2250
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia, Renal hypoplasia/aplasia, Abnormal localization of kidney, Absent gallbladder ORPHA:3186
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos OMIM:610758
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Hypospadias, Unilateral microphthalmos OMIM:618874
Jacobsen Syndrome
Microphthalmia, Annular pancreas, Macular hypoplasia, Hypospadias OMIM:147791
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Oculocerebrorenal Syndrome Of Lowe
Glomerulopathy, Renal insufficiency, Proteinuria, Proximal renal tubular acidosis, Nephrolithiasi... ORPHA:534
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia ORPHA:91495
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia ORPHA:1352
Cousin Syndrome
Microphthalmia, Hydronephrosis OMIM:260660
Degcags Syndrome
Hepatomegaly, Recurrent urinary tract infections, Hypospadias, Bilateral renal dysplasia, Abnorma... OMIM:619488
Trisomy 18
Microphthalmia, Hydronephrosis, Abnormality of the upper urinary tract ORPHA:3380
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypospadias, Renal cyst, Vesicoureteral reflux, Microphthalmia, Annular pancreas OMIM:616975
Ohdo Syndrome, X-Linked
Microphthalmia, Micropenis OMIM:300895
Cockayne Syndrome
Elevated hepatic transaminase, Hepatomegaly, Neurogenic bladder, Renal insufficiency, Proteinuria... ORPHA:191
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Buphthalmos, Microphthalmia, Renal dysplasia, Optic nerve hypoplasia OMIM:236670
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Holoprosencephaly
Hypoplasia of penis, Anophthalmia, Proteinuria, Abnormality of the spleen, Abnormality of the uri... ORPHA:2162
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Microphthalmia, Phthisis bulbi OMIM:221900
Tetraamelia Syndrome 1
Asplenia, Microphthalmia, Renal agenesis, Urethral atresia OMIM:273395
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
Trichothiodystrophy 1, Photosensitive
Microphthalmia OMIM:601675
Cockayne Syndrome B
Hepatomegaly, Renal insufficiency, Proteinuria, Splenomegaly, Hypoplasia of the iris, Microphthal... OMIM:133540
Frontonasal Dysplasia 2
Microphthalmia OMIM:613451
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia OMIM:613150
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
Frontorhiny
Microphthalmia ORPHA:391474
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Microphthalmia, Micropenis, Absent gallbladder OMIM:617925
Cohen Syndrome
Microphthalmia ORPHA:193
Linear Skin Defects With Multiple Congenital Anomalies 1
Microphthalmia, Micropenis, Chordee, Hypospadias OMIM:309801
Mosaic Variegated Aneuploidy Syndrome
Microphthalmia, Multicystic kidney dysplasia, Nephroblastoma ORPHA:1052
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypospadias, Optic nerve hypoplasia, Unilateral renal agenesis, Bilateral microphthalmos, Microph... ORPHA:468631
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Microphthalmia OMIM:253800
Dubowitz Syndrome
Hypoplasia of the iris, Microphthalmia, Hypospadias OMIM:223370
22Q11.2 Deletion Syndrome
Hypospadias, Splenomegaly, Renal hypoplasia, Multiple renal cysts, Polycystic kidney dysplasia, V... ORPHA:567
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia OMIM:610651
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Microphthalmia, Optic nerve hypoplasia OMIM:614643
Proboscis Lateralis
Anophthalmia, Optic nerve hypoplasia, Unilateral renal agenesis, Ureteral agenesis, Duplication o... ORPHA:141099
Oculoauricular Syndrome
Microphthalmia, Phthisis bulbi, Macular hypoplasia, Microphakia OMIM:612109
Premature Aging Syndrome, Penttinen Type
Microphthalmia OMIM:601812
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia OMIM:300952
Phace Association
Microphthalmia, Optic nerve hypoplasia OMIM:606519
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Monosomy 9Q22.3
Microphthalmia, Nephroblastoma ORPHA:77301
Bartsocas-Papas Syndrome 1
Microphthalmia, Micropenis, Ectopic kidney OMIM:263650
2Q31.1 Microdeletion Syndrome
Microphthalmia ORPHA:251014
Microphthalmia With Limb Anomalies
Microphthalmia, True anophthalmia, Horseshoe kidney ORPHA:1106
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Microphthalmia, Micropenis, Hypospadias, Horseshoe kidney OMIM:609945
Holoprosencephaly 9
Microphthalmia, Micropenis, Anophthalmia, Optic nerve hypoplasia OMIM:610829
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Stage 5 ... OMIM:309000
Roberts Syndrome
Microphthalmia, Long penis, Polycystic kidney dysplasia ORPHA:3103
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia, Micropenis, Hypospadias OMIM:603457
Momo Syndrome
Bilateral microphthalmos ORPHA:2563
Hallermann-Streiff Syndrome
Microphthalmia OMIM:234100
Oculodentodigital Dysplasia
Microphthalmia, Neurogenic bladder OMIM:164200
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia ORPHA:85167
Fraser Syndrome
Hypoplasia of penis, Anophthalmia, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia, U... ORPHA:2052
Monosomy 9P
Microphthalmia, Ureteropelvic junction obstruction, Hypospadias ORPHA:261112
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia ORPHA:1236
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia ORPHA:364577
Atelis Syndrome 2
Microphthalmia OMIM:620185
Rothmund-Thomson Syndrome, Type 2
Microphthalmia, Annular pancreas OMIM:268400
Incontinentia Pigmenti
Hypoplasia of the fovea, Microphthalmia OMIM:308300
Curry-Jones Syndrome
Microphthalmia OMIM:601707
Incontinentia Pigmenti
Microphthalmia ORPHA:464
Hallermann-Streiff Syndrome
Microphthalmia, Abdominal situs inversus ORPHA:2108
Townes-Brocks Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, Urethral valve,... ORPHA:857
Lymphedema-Distichiasis Syndrome
Microphthalmia OMIM:153400
Charge Syndrome
Anophthalmia, Horseshoe kidney, Vesicoureteral reflux, Microphthalmia, Micropenis, Hydronephrosis ORPHA:138
Treacher-Collins Syndrome
Microphthalmia, Hypoplasia of penis ORPHA:861
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia, Hypospadias, Ureterocele OMIM:616734
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Microphthalmia, Homocystinuria OMIM:601552
Renpenning Syndrome 1
Microphthalmia, Hypospadias, Renal hypoplasia, Phimosis OMIM:309500
Isolated Arrhinia
Microphthalmia ORPHA:1134
Aicardi Syndrome
Hepatoblastoma, Microphthalmia ORPHA:50
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Anophthalmia, Hypospadias, Epispadias, Microphthalmia ORPHA:2556
Oculo-Palato-Cerebral Syndrome
Microphthalmia ORPHA:2714
Linear Nevus Sebaceus Syndrome
Microphthalmia ORPHA:2612
Basal Cell Nevus Syndrome 1
Microphthalmia OMIM:109400
Focal Dermal Hypoplasia
Ureteral duplication, Anophthalmia, Horseshoe kidney, Aniridia, Microphthalmia, Bifid ureter, Hyd... OMIM:305600
Yunis-Varon Syndrome
Hypospadias, Cardiomegaly, Bilateral microphthalmos, Renovascular hypertension, Renal artery sten... ORPHA:3472
Aicardi Syndrome
Hepatoblastoma, Microphthalmia OMIM:304050
Acrofrontofacionasal Dysostosis 1
Microphthalmia OMIM:201180
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Microphthalmia, Right ventricular hypertrophy, Prolonged neonatal jaundice OMIM:620186
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Anophthalmia ORPHA:2526
Hydrolethalus Syndrome 1
Accessory spleen, Microphthalmia, Hypospadias, Hydronephrosis OMIM:236680
Trichothiodystrophy
Bilateral microphthalmos ORPHA:33364
Fraser Syndrome 1
Anophthalmia, Hypospadias, Renal hypoplasia/aplasia, Bilateral microphthalmos, Renal hypoplasia, ... OMIM:219000
8Q24.3 Microdeletion Syndrome
Optic nerve hypoplasia, Unilateral renal agenesis, Abnormality of the kidney, Bilateral microphth... ORPHA:508488
Charge Syndrome
Anophthalmia, Renal agenesis, Unilateral microphthalmos, Horseshoe kidney, Renal hypoplasia, Micr... OMIM:214800
Chromosome 13Q14 Deletion Syndrome
Microphthalmia, Micropenis OMIM:613884
Microphthalmia, Syndromic 2
Microphthalmia, Phthisis bulbi, Anophthalmia, Hypospadias OMIM:300166
Kenny-Caffey Syndrome, Type 2
Microphthalmia OMIM:127000
Phace Syndrome
Microphthalmia, Lens coloboma, Optic nerve hypoplasia ORPHA:42775
Holoprosencephaly 7
Microphthalmia, Bilateral microphthalmos OMIM:610828
Fontaine Progeroid Syndrome
Left ventricular hypertrophy, Microphthalmia, Micropenis OMIM:612289
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Phthisis bulbi OMIM:259770
Mend Syndrome
Microphthalmia ORPHA:401973
Myhre Syndrome
Microphthalmia OMIM:139210
Pallister-Hall Syndrome
Hypospadias, Unilateral renal agenesis, Ectopic kidney, Bilateral renal agenesis, Microphthalmia,... ORPHA:672
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Microphthalmia, Hypoplasia of the retina OMIM:253280
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Hypospadias, Long penis, Biliary tract abnormality, Horseshoe kidney, Polycysti... OMIM:268300
Holoprosencephaly 1
Microphthalmia, Micropenis OMIM:236100
Microphthalmia, Syndromic 6
Microphthalmia, Anophthalmia, Renal hypoplasia OMIM:607932
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia OMIM:608670
Monosomy 13Q14
Microphthalmia ORPHA:1587
Branchiooculofacial Syndrome
Anophthalmia, Renal agenesis, Hypospadias, Renal cyst, Microphthalmia OMIM:113620
Witteveen-Kolk Syndrome
Hypospadias, Phimosis, Male urethral meatus stenosis, Microphallus, Microphthalmia OMIM:613406
Frontofacionasal Dysplasia
Microphthalmia OMIM:229400
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Webbed penis, Asplenia, Chordee,... ORPHA:261537
Mowat-Wilson Syndrome
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Webbed penis, Abnormality of the... ORPHA:2152
Neu-Laxova Syndrome 1
Microphthalmia, Renal agenesis OMIM:256520
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia ORPHA:306542
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Microphthalmia OMIM:612474
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Webbed penis, Asplenia, Duplicat... ORPHA:261552
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Anophthalmia, Renal agenesis, Ectopic kidney, Vesicoureteral reflux... OMIM:164210
Neuroocular Syndrome
Hypoplasia of the fovea, Microphthalmia, Lens coloboma OMIM:619539
Adams-Oliver Syndrome 1
Microphthalmia OMIM:100300
Mowat-Wilson Syndrome
Microphthalmia, Hypospadias, Abnormality of the kidney OMIM:235730
Microphthalmia, Syndromic 1
Anophthalmia, Hypospadias, Hydroureter, Renal hypoplasia/aplasia, Renal hypoplasia, Microphthalmia OMIM:309800
Autosomal Dominant Kenny-Caffey Syndrome
Bilateral microphthalmos ORPHA:93325
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:649
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hypoplasia of the iris, Microphthalmia OMIM:175780
Treacher Collins Syndrome 1
Bilateral microphthalmos OMIM:154500
Holoprosencephaly 2
Microphthalmia OMIM:157170

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 Cuta

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 Cuta.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Cutaltm1a(EUCOMM)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Cutaltm1a(EUCOMM)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Cutaltm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Cutaltm1a(EUCOMM)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Cutaltm1a(EUCOMM)Wtsi PMC5827107

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
Cutaem1(IMPC)Mbp Whole-gene deletion Mice, Tissue
Cutatm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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