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

Download data as:  TSV  XLS

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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 Lateral Orientation

13 Images

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X-ray

XRay Images Whole Body Dorso Ventral

39 Images

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X-ray

XRay Images Whole Body Dorso Ventral

19 Images

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X-ray

XRay Images Whole Body Lateral Orientation

6 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
Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced... OMIM:617610
Hepatorenocardiac Degenerative Fibrosis
Enlarged kidney, Jaundice, Elevated circulating hepatic transaminase concentration, Cirrhosis, Tu... OMIM:619902
Nephronophthisis 16
Enlarged kidney, Nephronophthisis, Periportal fibrosis, Polycystic kidney dysplasia, Cholestasis,... OMIM:615382
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Mesangial Immune complex deposition, ... OMIM:613496
Nephronophthisis 3
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Hepatic fibr... OMIM:604387
Meckel Syndrome, Type 8
Enlarged kidney, Microphthalmia, Anophthalmia, Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:613885
Aa Amyloidosis
Acute kidney injury, Enlarged kidney, Hepatomegaly, Abnormality of the kidney, Cholestasis, Nephr... ORPHA:85445
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Splenomegaly OMIM:615285
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne... 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/Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Splenomegaly, Stage 5 c... OMIM:208540
Gombo Syndrome
Microphthalmia OMIM:233270
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... ORPHA:730
Renal Dysplasia
Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron morphology, Ure... ORPHA:93108
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cortical microcyst... OMIM:602088
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Hepatomegaly, Cholestasis, Asplenia, Hepatic cysts, Hepatic fibrosis, Malformati... OMIM:615415
Microphthalmia/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/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Anophthalmia OMIM:611638
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia, Hepatomegaly, Ectopic kidney, Cystic renal dysplasia OMIM:613730
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Nanophthalmos
Microphthalmia ORPHA:35612
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... OMIM:618270
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia, Hematuria OMIM:120433
Nanophthalmos 4
Microphthalmia OMIM:615972
Nephronophthisis 13
Nephronophthisis, Glomerular sclerosis, Multilamellation of medullary peritubular capillary basem... OMIM:614377
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Microphthalmia, Hydronephrosis, Abnormal localization of kidney ORPHA:195
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged kidney, Enlarged polycystic ovaries ORPHA:90301
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Elevated circulating hepatic transaminase concentration, M... OMIM:608836
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Uraciluria, Elevated urinary dihydrothymine level OMIM:274270
Glycogen Storage Disease Ia
Enlarged kidney, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreased... OMIM:232200
Diaphanospondylodysostosis
Enlarged kidney, Abnormal liver lobulation, Nephroblastomatosis, Nephrogenic rest, Horseshoe kidn... OMIM:608022
Tyrosinemia, Type I
Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Cirrhosis, Elevated circulating hepa... OMIM:276700
Autosomal Recessive Polycystic Kidney Disease
Enlarged kidney, Cholestasis, Biliary hyperplasia, Splenomegaly, Abnormal intrahepatic bile duct ... ORPHA:731
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Renal hypoplasia, Microphthalmia, Hepatomegaly, Ketonuria OMIM:619053
Glycogen Storage Disease Ib
Enlarged kidney, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreased... OMIM:232220
Matthew-Wood Syndrome
Annular pancreas, Microphthalmia, Aplasia/Hypoplasia of the pancreas, Anophthalmia, Vesicouretera... ORPHA:2470
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Hydroureter, Hypoplasia of penis, Abnormality of the bladder, Abnormality of the ... ORPHA:2547
Biemond Syndrome Type 2
Microphthalmia, Hypospadias ORPHA:141333
Multicystic Dysplastic Kidney
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... ORPHA:1851
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Meckel Syndrome, Type 5
Microphthalmia, Renal cyst, Bile duct proliferation OMIM:611561
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Focal segmental glomeruloscleros... OMIM:617303
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia, Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concent... OMIM:618805
Congenital Toxoplasmosis
Microphthalmia, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, ... ORPHA:858
Foveal Hypoplasia 2
Microphthalmia, Hypoplasia of the fovea OMIM:609218
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Hepatomegaly, Polysplenia, Hepatic fibrosis, Pancreatic fibrosis, Cystic renal d... OMIM:200995
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Joubert Syndrome 22
Renal hypoplasia, Microphthalmia OMIM:615665
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Mmep Syndrome
Microphthalmia ORPHA:3434
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Igg4-Related Kidney Disease
Decreased liver function, Enlarged kidney, Sclerosing cholangitis, Cholecystitis, Urinary bladder... ORPHA:449395
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Hydronephrosis, Urethral atresia OMIM:314390
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Enlarged kidney, Macroscopic hematuria, Proteinuria ORPHA:251004
Bresek Syndrome
Microphthalmia, Optic nerve hypoplasia, Vesicoureteral reflux, Hypoplasia of the bladder, Renal h... ORPHA:85284
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Optic nerve hypoplasia, Bilateral renal agenesis, Renal hypoplasia, Ureteral agen... OMIM:617914
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia, Hematuria ORPHA:1473
Oculogastrointestinal Neurodevelopmental Syndrome
Unilateral microphthalmos, Bilateral microphthalmos, Horseshoe kidney OMIM:619318
Denys-Drash Syndrome
Enlarged kidney, Focal segmental glomerulosclerosis, Nephrotic syndrome, Diffuse mesangial sclero... OMIM:194080
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Vesicoureteral reflux, Renal hypoplasia, Ureteropelvic junction obstru... OMIM:610805
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Cardiomegaly, Renal cortical cysts, Vesicoureteral reflux, Nephrol... OMIM:130650
Kaposiform Lymphangiomatosis
Enlarged kidney, Abnormal spleen morphology, Hepatosplenomegaly, Splenomegaly, Multiple renal cys... ORPHA:464329
Seckel Syndrome 2
Microphthalmia, Ectopic kidney, Hypospadias OMIM:606744
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
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Enlarged kidney, Hepatocellular adenoma, Pancreatitis, Hepatomegaly, Increased hepatic glycogen c... ORPHA:79259
Meckel Syndrome, Type 2
Microphthalmia, Renal cyst, Bile duct proliferation OMIM:603194
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia OMIM:615113
Lymphoid Interstitial Pneumonia
Enlarged kidney, Hepatomegaly ORPHA:79128
Papillorenal Syndrome
Microphthalmia, Hematuria, Horseshoe kidney, Vesicoureteral reflux, Mild proteinuria, Nephrolithi... OMIM:120330
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Cofs Syndrome
Microphthalmia ORPHA:1466
Congenital Rubella Syndrome
Microphthalmia, Jaundice, Hepatomegaly, Splenomegaly, Aplasia/Hypoplasia of the iris ORPHA:290
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia ORPHA:1528
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Nephrotic syndrome, Mild proteinuria, Microphthalmia, Focal segmental glomerulosclerosis OMIM:301108
Pierpont Syndrome
Microphthalmia, Micropenis OMIM:602342
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Joubert Syndrome 37
Microphthalmia, Hydronephrosis, Micropenis, Hepatomegaly OMIM:619185
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos, Hepatomegaly, Splenomegaly OMIM:615085
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Unilateral renal agenesis, Splenic cyst OMIM:618188
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
H Syndrome
Abnormality of the kidney, Enlarged kidney, Micropenis, Hepatosplenomegaly ORPHA:168569
Developmental And Epileptic Encephalopathy 1
Microphthalmia, Micropenis OMIM:308350
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Polycystic kidney dysplasia, Enlarged kidney, Micropenis OMIM:613091
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Alg9-Cdg
Enlarged kidney, Hepatomegaly, Periportal fibrosis, Abnormal renal artery morphology, Ureteral hy... ORPHA:79328
Pierpont Syndrome
Microphthalmia ORPHA:487825
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Nephrotic syndrome, Hepatosplenomegaly, Proteinuria, Heavy proteinuria, Urinary ... ORPHA:505248
Meckel Syndrome, Type 4
Microphthalmia, Renal cyst, Bile duct proliferation OMIM:611134
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Nephroblastoma, Microphthalmia OMIM:602501
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Endocrine-Cerebroosteodysplasia
Enlarged kidney, Hyperechogenic kidneys, Hypospadias, Microphallus OMIM:612651
Trisomy 13
Microphthalmia, Anophthalmia, Abnormality of the ureter, Hydronephrosis, Displacement of the uret... ORPHA:3378
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Fanconi Anemia, Complementation Group I
Microphthalmia, Abnormal renal morphology, Optic nerve hypoplasia, Vesicoureteral reflux, Renal h... OMIM:609053
Warburg Micro Syndrome 1
Microphthalmia OMIM:600118
Mucolipidosis Ii Alpha/Beta
Enlarged kidney, Hepatomegaly, Mucopolysacchariduria, Splenomegaly, Cardiomegaly OMIM:252500
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Renal hypoplasia, Microphthalmia, Hydronephrosis, Unilateral renal agenesis OMIM:618494
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Hepatomegaly, Biliary atresia, Polysplenia, Asplenia, Renal agenesis, Cardiomega... OMIM:306955
Beckwith-Wiedemann Syndrome
Enlarged kidney, Ureteral duplication, Hepatomegaly, Abnormal pancreas morphology, Congenital meg... ORPHA:116
Gracile Bone Dysplasia
Microphthalmia, Aniridia, Asplenia, Hypoplastic spleen, Micropenis OMIM:602361
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary aminoisobutyric acid, Microphthalmia, Beta-alaninuria, Elevated urinary 3-hydrox... OMIM:614105
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Congenital Fibrinogen Deficiency
Microphthalmia, Splenic rupture, Right ventricular hypertrophy, Left ventricular hypertrophy, Mic... ORPHA:335
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia ORPHA:48431
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Renal hypoplasia, Microphthalmia, Lens coloboma OMIM:618914
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia OMIM:613155
Subaortic Stenosis-Short Stature Syndrome
Biliary tract abnormality, Microphthalmia ORPHA:3191
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Ring Chromosome 10 Syndrome
Microphthalmia, Renal hypoplasia/aplasia ORPHA:1438
Temtamy Syndrome
Microphthalmia ORPHA:1777
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Microphthalmia OMIM:615181
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia, Micropenis OMIM:610756
Anterior Segment Dysgenesis 5
Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris OMIM:604229
Lissencephaly 8
Microphthalmia OMIM:617255
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Enlarged kidney ORPHA:276280
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia, Left ventricular hypertrophy OMIM:613153
Fanconi Anemia, Complementation Group R
Pelvic kidney, Microphthalmia OMIM:617244
Meacham Syndrome
Enlarged kidney, Horseshoe kidney, Accessory spleen OMIM:608978
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia ORPHA:93267
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia OMIM:300887
Fanconi Anemia, Complementation Group N
Microphthalmia, Unilateral renal agenesis, Ectopic kidney, Pelvic kidney, Nephroblastoma, Horsesh... OMIM:610832
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Microphthalmia, Micropenis, Anophthalmia OMIM:610125
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Neurooculocardiogenitourinary Syndrome
Cardiomegaly, Microphthalmia OMIM:618652
Ogden Syndrome
Enlarged kidney, Jaundice, Macrovesicular hepatic steatosis, Polycystic kidney dysplasia, Microve... OMIM:300855
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Hypospadias, Anophthalmia, Hypoplasia of penis ORPHA:77298
Microphthalmia/Coloboma 12
Optic nerve aplasia, Microphthalmia, Vesicoureteral reflux OMIM:120200
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Enlarged kidney, Bifid ureter, Nephroblastoma, Renal malrotation, Multicystic kidney dysplasia ORPHA:500095
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Congenital Primary Aphakia
Microphthalmia, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenita... ORPHA:83461
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia OMIM:601794
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Leprechaunism
Enlarged kidney, Hepatomegaly, Long penis, Hypercalciuria, Nephrocalcinosis, Enlarged ovaries ORPHA:508
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Enlarged kidney OMIM:261740
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Autosomal Dominant Keratitis
Bilateral microphthalmos, Aniridia, Hypoplastic iris stroma, Hypoplasia of the fovea, Macular hyp... ORPHA:2334
Fraser Syndrome 2
Microphthalmia, Unilateral renal agenesis, Bilateral renal agenesis, Aplasia of the bladder, Rena... OMIM:617666
Rere-Related Neurodevelopmental Syndrome
Microphthalmia, Vesicoureteral reflux, Hypospadias ORPHA:494344
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia ORPHA:2788
Helsmoortel-Van Der Aa Syndrome
Enuresis nocturna, Recurrent urinary tract infections, Enlarged kidney OMIM:615873
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia, Elevated circulating hepatic transaminase concentration OMIM:612379
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Marden-Walker Syndrome
Renal hypoplasia, Microphthalmia, Micropenis, Hypospadias OMIM:248700
Refsum Disease
Microphthalmia, Renal insufficiency, Splenomegaly ORPHA:773
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Frontonasal Dysplasia 1
Microphthalmia OMIM:136760
Cardiac-Urogenital Syndrome
Enlarged kidney, Penoscrotal hypospadias, Accessory spleen, Patent urachus, Hepatopulmonary fusio... OMIM:618280
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia OMIM:214150
Duane-Radial Ray Syndrome
Microphthalmia, Optic disc hypoplasia, Vesicoureteral reflux, Renal agenesis, Renal hypoplasia, H... OMIM:607323
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:85194
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia, Oligosacchariduria ORPHA:163649
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Hepatomegaly, Renal hypoplasia/aplasia, Anophthalmia, Renal agenesis, Abnormality... ORPHA:2538
Mosaic Trisomy 9
Microphthalmia, Abnormal liver lobulation, Hypoplasia of penis, Asplenia, Hydronephrosis, Multipl... ORPHA:99776
Moebius Syndrome
Microphthalmia, Micropenis OMIM:157900
Encephalocraniocutaneous Lipomatosis
Pelvic kidney, Microphthalmia, Hydronephrosis, Hypoplasia of the iris OMIM:613001
Fanconi Anemia, Complementation Group A
Microphthalmia, Ectopic kidney, Duplicated collecting system, Abnormal renal morphology, Renal ag... OMIM:227650
Cat Eye Syndrome
Microphthalmia, Biliary atresia, Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Horseshoe... OMIM:115470
Baraitser-Winter Syndrome 1
Microphthalmia, Micropenis OMIM:243310
Fanconi Anemia, Complementation Group F
Microphthalmia, Pelvic kidney, Vesicoureteral reflux, Microphallus, Renal hypoplasia OMIM:603467
Anterior Segment Dysgenesis 2
Microphthalmia, Anterior segment of eye aplasia, Congenital aphakia, Aniridia OMIM:610256
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microphthalmia OMIM:614833
Micro Syndrome
Abnormal localization of kidney, Hydronephrosis, Microphthalmia, Hypoplasia of penis ORPHA:2510
Meckel Syndrome
Microphthalmia, Ureteral duplication, Accessory spleen, Anophthalmia, Pancreatic cysts, Asplenia,... ORPHA:564
Stromme Syndrome
Microphthalmia, Accessory spleen, Optic nerve hypoplasia, Hydronephrosis, Bilateral renal hypoplasia OMIM:243605
Microphthalmia, Syndromic 9
Multilobulated spleen, Bilateral microphthalmos, Anophthalmia, Pelvic kidney, Renal hypoplasia, H... OMIM:601186
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Garg-Mishra Progeroid Syndrome
Microvesicular hepatic steatosis, Microphthalmia OMIM:620601
Stevenson-Carey Syndrome
Recurrent urinary tract infections, Microphthalmia OMIM:611961
Fanconi Anemia, Complementation Group E
Microphthalmia, Ectopic kidney, Duplicated collecting system, Renal agenesis, Horseshoe kidney OMIM:600901
Microphthalmia, Lenz Type
Microphthalmia, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Hydronephrosis ORPHA:568
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Mosaic Trisomy 1
Microphthalmia, Renal cortical cysts, Renal cyst, Hepatic agenesis, Penile hypospadias, Micropenis ORPHA:1692
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia, Multiple bladder diverticula, Proteinuria ORPHA:2728
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Warburg Micro Syndrome 4
Microphthalmia, Micropenis OMIM:615663
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Joubert Syndrome 14
Microphthalmia, Renal cyst OMIM:614424
Tetraamelia-Multiple Malformations Syndrome
Microphthalmia, Multicystic kidney dysplasia, Septo-optic dysplasia ORPHA:3301
Kapur-Toriello Syndrome
Microphthalmia, Hypoplasia of penis ORPHA:2328
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Simpson-Golabi-Behmel Syndrome, Type 1
Enlarged kidney, Hepatomegaly, Hypospadias, Renal cyst, Hydronephrosis, Splenomegaly, Right ventr... OMIM:312870
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe OMIM:615249
Monosomy 18P
Microphthalmia ORPHA:1598
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia OMIM:152950
Pierson Syndrome
Microphthalmia, Hypoplasia of the ciliary body, Hypoplasia of the iris, Nephrotic syndrome, Riege... OMIM:609049
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia, Hydronephrosis, Hypospadias OMIM:616449
Fanconi Anemia, Complementation Group D2
Annular pancreas, Microphthalmia, Ectopic kidney, Duplicated collecting system, Pelvic kidney, Re... OMIM:227646
Meckel Syndrome 14
Polycystic kidney dysplasia, Hepatic fibrosis, Microphthalmia OMIM:619879
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic nerve hypoplasia, Microphthalmia ORPHA:370959
Temtamy Syndrome
Microphthalmia OMIM:218340
Galloway-Mowat Syndrome 3
Microphthalmia, Glomerular sclerosis, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuri... OMIM:617729
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Adams-Oliver Syndrome
Cirrhosis, Microphthalmia, Congenital hepatic fibrosis, Portal hypertension ORPHA:974
Hydrolethalus
Microphthalmia, Anophthalmia ORPHA:2189
Sandestig-Stefanova Syndrome
Microphthalmia OMIM:618804
Warburg Micro Syndrome 3
Microphthalmia, Micropenis OMIM:614222
Joubert Syndrome 2
Microphthalmia, Nephronophthisis, Renal insufficiency, Renal cyst OMIM:608091
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Pseudotrisomy 13 Syndrome
Renal agenesis, Renal hypoplasia, Microphthalmia, Micropenis OMIM:264480
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Walker-Warburg Syndrome
Microphthalmia, Anophthalmia, Hypoplasia of penis ORPHA:899
Acro-Renal-Ocular Syndrome
Microphthalmia, Renal hypoplasia/aplasia, Optic disc hypoplasia, Vesicoureteral reflux, Bladder d... ORPHA:959
Rodrigues Blindness
Microphthalmia OMIM:268320
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia ORPHA:139471
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia, Hydronephrosis ORPHA:35173
Fanconi Anemia, Complementation Group S
Microphthalmia OMIM:617883
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Microphthalmia, Elevated circulating hepatic transaminase concentration, Accessory spleen, Portal... OMIM:620005
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia, Hypospadias ORPHA:2505
Proteus Syndrome
Enlarged kidney, Long penis, Enlarged polycystic ovaries, Renal cyst, Splenomegaly, Buphthalmos ORPHA:744
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Microphthalmia, Micropenis OMIM:241410
Fanconi Anemia, Complementation Group C
Microphthalmia, Ectopic kidney, Duplicated collecting system, Renal agenesis, Horseshoe kidney OMIM:227645
Focal Dermal Hypoplasia
Microphthalmia, Renal hypoplasia/aplasia, Hypoplasia of the iris, Hydronephrosis, Acute hepatic f... ORPHA:2092
Pallister-Hall Syndrome
Microphthalmia, Hydroureter, Ectopic kidney, Renal cyst, Distal urethral duplication, Renal hypop... OMIM:146510
Fryns Syndrome
Microphthalmia, Hypospadias, Vesicoureteral reflux, Hydronephrosis, Multicystic kidney dysplasia ORPHA:2059
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
3Q29 Microdeletion Syndrome
Microphthalmia, Horseshoe kidney, Hypospadias ORPHA:65286
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia, Hypospadias, Cholelithiasis, Hydronephrosis, Male urethral meatus stenosis ORPHA:464738
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Renal dysplasia, Microphthalmia OMIM:618571
Otodental Syndrome
Microphthalmia, Lens coloboma ORPHA:2791
Pelvis-Shoulder Dysplasia
Microphthalmia OMIM:169550
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia ORPHA:228390
Galloway-Mowat Syndrome 1
Microphthalmia, Focal segmental glomerulosclerosis, Hypoplasia of the iris, Nephrotic syndrome, P... OMIM:251300
Cockayne Syndrome Type 3
Microphthalmia, Hepatomegaly, Hydroureter, Unilateral renal agenesis, Elevated circulating hepati... ORPHA:90324
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia ORPHA:404440
Kapur-Toriello Syndrome
Abnormality of the urinary system, Microphthalmia, Micropenis OMIM:244300
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia, Bilateral microphthalmos OMIM:607597
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, Hydronephrosis, Horseshoe kidney, Ureteral stenosis OMIM:272950
Frontofacionasal Dysplasia
Microphthalmia ORPHA:1791
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Trichothiodystrophy 3, Photosensitive
Microphthalmia OMIM:616395
Chromosome 13Q33-Q34 Deletion Syndrome
Penoscrotal transposition, Microphthalmia, Hypospadias, Left ventricular hypertrophy OMIM:619148
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bilateral microphthalmos ORPHA:369891
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Nasopalpebral Lipoma-Coloboma Syndrome
Bilateral microphthalmos, Microphthalmia ORPHA:2399
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Hypospadias, Anophthalmia OMIM:615877
Martsolf Syndrome 1
Microphthalmia, Micropenis OMIM:212720
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
Steinfeld Syndrome
Absent gallbladder, Microphthalmia, Unilateral renal dysplasia OMIM:184705
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Microphthalmia/Coloboma 9
Microphthalmia OMIM:615145
Fanconi Anemia, Complementation Group L
Renal hypoplasia, Microphthalmia, Micropenis, Unilateral renal agenesis OMIM:614083
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Microphthalmia, Hypospadias, Pelvic kidney, Optic nerve hypoplasia, Renal agenesis, Renal hypopla... ORPHA:508498
Histiocytoid Cardiomyopathy
Microphthalmia, Hepatomegaly, Congenital aphakia, Renal cyst, Cardiomegaly ORPHA:137675
1Q21.1 Microdeletion Syndrome
Microphthalmia, Hydronephrosis, Vesicoureteral reflux ORPHA:250989
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Vacterl With Hydrocephalus
Renal agenesis, Microphthalmia, Renal hypoplasia/aplasia, Anophthalmia ORPHA:3412
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Norrie Disease
Buphthalmos, Microphthalmia, Hypoplasia of the iris OMIM:310600
Microphthalmia, Syndromic 3
Microphthalmia, Hypospadias, Anophthalmia, Optic nerve hypoplasia, Optic nerve aplasia, Micropenis OMIM:206900
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia OMIM:620098
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal hypoplasia, Microphthalmia, Renal cyst OMIM:616300
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
8Q21.11 Microdeletion Syndrome
Microphthalmia, Hypoplasia of penis ORPHA:284160
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
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
Mycophenolate Mofetil Embryopathy
Microphthalmia, Ectopic kidney ORPHA:268249
Holoprosencephaly-Postaxial Polydactyly Syndrome
Microphthalmia, Renal hypoplasia/aplasia, Hypospadias, Hypoplasia of penis, Abnormal localization... ORPHA:2166
3Q29 Microduplication Syndrome
Microphthalmia, Aniridia ORPHA:251038
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Meckel Syndrome, Type 1
Microphthalmia, Accessory spleen, Polycystic kidney dysplasia, Abnormality of the ureter, Aspleni... OMIM:249000
Fanconi Anemia
Microphthalmia, Renal hypoplasia/aplasia, Hydroureter, Abnormal preputium morphology, Hypospadias... ORPHA:84
Pelvis-Shoulder Dysplasia
Bilateral microphthalmos, Hydronephrosis ORPHA:2839
Fryns Syndrome
Microphthalmia, Ureteral duplication, Hypospadias, Renal cyst, Renal agenesis, Hydronephrosis, Ec... OMIM:229850
Ritscher-Schinzel Syndrome 3
Microphthalmia OMIM:619135
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia, Hypoplasia of penis ORPHA:2250
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder, Microphthalmia, Renal hypoplasia/aplasia, Abnormal localization of kidney ORPHA:3186
Persistent Hyperplastic Primary Vitreous
Phthisis bulbi, Microphthalmia, Buphthalmos, Macular hypoplasia ORPHA:91495
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos OMIM:610758
Degcags Syndrome
Abnormal renal medulla morphology, Microphthalmia, Hepatomegaly, Hypospadias, Recurrent urinary t... OMIM:619488
Jacobsen Syndrome
Annular pancreas, Microphthalmia, Hypospadias, Macular hypoplasia OMIM:147791
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia ORPHA:1352
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Cockayne Syndrome
Microphthalmia, Urinary incontinence, Elevated circulating hepatic transaminase concentration, Un... ORPHA:191
Oculocerebrorenal Syndrome Of Lowe
Abnormal renal tubule morphology, Glomerulopathy, Microphthalmia, Hematuria, Hypercalciuria, Neph... ORPHA:534
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Unilateral microphthalmos, Hypospadias OMIM:618874
Cousin Syndrome
Microphthalmia, Hydronephrosis OMIM:260660
Trisomy 18
Microphthalmia, Hydronephrosis, Abnormality of the upper urinary tract ORPHA:3380
Ohdo Syndrome, X-Linked
Microphthalmia, Micropenis OMIM:300895
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Annular pancreas, Microphthalmia, Hypospadias, Vesicoureteral reflux, Renal cyst OMIM:616975
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Phthisis bulbi, Microphthalmia, Buphthalmos OMIM:221900
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Renal dysplasia, Optic nerve hypoplasia, Microphthalmia, Buphthalmos OMIM:236670
Cockayne Syndrome B
Microphthalmia, Hepatomegaly, Renal insufficiency, Hypoplasia of the iris, Splenomegaly, Proteinu... OMIM:133540
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
Holoprosencephaly
Microphthalmia, Hypoplasia of penis, Anophthalmia, Abnormality of the spleen, Proteinuria, Abnorm... ORPHA:2162
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Microphthalmia, Increased hepatic echogenicity OMIM:608940
Trichothiodystrophy 1, Photosensitive
Microphthalmia OMIM:601675
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
Tetraamelia Syndrome 1
Renal agenesis, Asplenia, Microphthalmia, Urethral atresia OMIM:273395
Cohen Syndrome
Microphthalmia ORPHA:193
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Microphthalmia OMIM:253800
Mosaic Variegated Aneuploidy Syndrome
Nephroblastoma, Microphthalmia, Multicystic kidney dysplasia ORPHA:1052
Frontorhiny
Microphthalmia ORPHA:391474
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Abnormal renal collecting system morphology, Bilateral microphthalmos, Unilateral renal agenesis,... ORPHA:468631
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Microphthalmia, Micropenis OMIM:617925
Linear Skin Defects With Multiple Congenital Anomalies 1
Chordee, Microphthalmia, Micropenis, Hypospadias OMIM:309801
Dubowitz Syndrome
Microphthalmia, Hypospadias, Hypoplasia of the iris OMIM:223370
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia OMIM:610651
Oculoauricular Syndrome
Microphakia, Phthisis bulbi, Microphthalmia, Macular hypoplasia OMIM:612109
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
22Q11.2 Deletion Syndrome
Microphthalmia, Hypospadias, Cholelithiasis, Polycystic kidney dysplasia, Vesicoureteral reflux, ... ORPHA:567
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Microphthalmia OMIM:614643
Proboscis Lateralis
Microphthalmia, Unilateral renal agenesis, Anophthalmia, Optic nerve hypoplasia, Ureteral agenesi... ORPHA:141099
Premature Aging Syndrome, Penttinen Type
Microphthalmia OMIM:601812
Monosomy 9Q22.3
Nephroblastoma, Microphthalmia ORPHA:77301
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia OMIM:300952
Phace Association
Optic nerve hypoplasia, Microphthalmia OMIM:606519
2Q31.1 Microdeletion Syndrome
Microphthalmia ORPHA:251014
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Microphthalmia, Horseshoe kidney, Micropenis, Hypospadias OMIM:609945
Bartsocas-Papas Syndrome 1
Microphthalmia, Micropenis, Ectopic kidney OMIM:263650
Microphthalmia With Limb Anomalies
Microphthalmia, True anophthalmia, Horseshoe kidney ORPHA:1106
Oculodentodigital Dysplasia
Neurogenic bladder, Microphthalmia OMIM:164200
Hallermann-Streiff Syndrome
Microphthalmia OMIM:234100
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia, Micropenis, Hypospadias OMIM:603457
Lowe Oculocerebrorenal Syndrome
Low-molecular-weight proteinuria, Bicarbonaturia, Microphthalmia, Hyperphosphaturia, Renal Fancon... OMIM:309000
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia ORPHA:85167
Roberts Syndrome
Polycystic kidney dysplasia, Microphthalmia, Long penis ORPHA:3103
Momo Syndrome
Bilateral microphthalmos ORPHA:2563
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Hallermann-Streiff Syndrome
Microphthalmia, Abdominal situs inversus ORPHA:2108
Monosomy 9P
Microphthalmia, Ureteropelvic junction obstruction, Hypospadias ORPHA:261112
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia ORPHA:1236
Incontinentia Pigmenti
Microphthalmia ORPHA:464
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia ORPHA:364577
Atelis Syndrome 2
Microphthalmia OMIM:620185
Rothmund-Thomson Syndrome, Type 2
Annular pancreas, Microphthalmia OMIM:268400
Incontinentia Pigmenti
Microphthalmia, Hypoplasia of the fovea OMIM:308300
Curry-Jones Syndrome
Microphthalmia OMIM:601707
Skin Creases, Congenital Symmetric Circumferential, 2
Ureterocele, Microphthalmia, Hypospadias OMIM:616734
Renpenning Syndrome 1
Renal hypoplasia, Phimosis, Microphthalmia, Hypospadias OMIM:309500
Traboulsi Syndrome
Microphthalmia, Homocystinuria OMIM:601552
Microphthalmia With Linear Skin Defects Syndrome
Epispadias, Microphthalmia, Hypospadias, Anophthalmia, Abnormal penis morphology ORPHA:2556
Lymphedema-Distichiasis Syndrome
Microphthalmia OMIM:153400
Treacher-Collins Syndrome
Microphthalmia, Hypoplasia of penis ORPHA:861
Townes-Brocks Syndrome
Abnormality of the kidney, Microphthalmia, Hypospadias, Ectopic kidney, Hypoplasia of penis, Vesi... ORPHA:857
Isolated Arrhinia
Microphthalmia ORPHA:1134
Aicardi Syndrome
Hepatoblastoma, Microphthalmia ORPHA:50
Charge Syndrome
Microphthalmia, Anophthalmia, Vesicoureteral reflux, Hydronephrosis, Micropenis, Horseshoe kidney ORPHA:138
Oculo-Palato-Cerebral Syndrome
Microphthalmia ORPHA:2714
Basal Cell Nevus Syndrome 1
Microphthalmia OMIM:109400
Acrofrontofacionasal Dysostosis 1
Microphthalmia OMIM:201180
Linear Nevus Sebaceus Syndrome
Microphthalmia ORPHA:2612
Focal Dermal Hypoplasia
Microphthalmia, Ureteral duplication, Aniridia, Anophthalmia, Hydronephrosis, Bifid ureter, Horse... OMIM:305600
Yunis-Varon Syndrome
Microphthalmia, Bilateral microphthalmos, Hypospadias, Renal artery stenosis, Renovascular hypert... ORPHA:3472
Aicardi Syndrome
Hepatoblastoma, Microphthalmia OMIM:304050
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Anophthalmia ORPHA:2526
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Prolonged neonatal jaundice, Microphthalmia, Right ventricular hypertrophy OMIM:620186
Fraser Syndrome
Microphthalmia, Renal hypoplasia/aplasia, Hypospadias, Hypoplasia of penis, Anophthalmia, Urethra... ORPHA:2052
Hydrolethalus Syndrome 1
Microphthalmia, Hydronephrosis, Hypospadias, Accessory spleen OMIM:236680
Microphthalmia, Syndromic 2
Phthisis bulbi, Microphthalmia, Hypospadias, Anophthalmia OMIM:300166
Holoprosencephaly 9
Optic nerve hypoplasia, Microphthalmia, Micropenis, Anophthalmia OMIM:610829
Trichothiodystrophy
Bilateral microphthalmos ORPHA:33364
Kenny-Caffey Syndrome, Type 2
Microphthalmia OMIM:127000
Charge Syndrome
Microphthalmia, Anophthalmia, Unilateral microphthalmos, Renal agenesis, Renal hypoplasia, Hydron... OMIM:214800
8Q24.3 Microdeletion Syndrome
Abnormality of the kidney, Bilateral microphthalmos, Unilateral renal agenesis, Pelvic kidney, Op... ORPHA:508488
Chromosome 13Q14 Deletion Syndrome
Microphthalmia, Micropenis OMIM:613884
Fraser Syndrome 1
Bilateral microphthalmos, Renal hypoplasia/aplasia, Hypospadias, Anophthalmia, Renal hypoplasia, ... OMIM:219000
Phace Syndrome
Optic nerve hypoplasia, Microphthalmia, Lens coloboma ORPHA:42775
Holoprosencephaly 7
Bilateral microphthalmos, Microphthalmia OMIM:610828
Fontaine Progeroid Syndrome
Microphthalmia, Micropenis, Left ventricular hypertrophy OMIM:612289
Mend Syndrome
Microphthalmia ORPHA:401973
Osteoporosis-Pseudoglioma Syndrome
Phthisis bulbi, Microphthalmia OMIM:259770
Myhre Syndrome
Microphthalmia OMIM:139210
Pallister-Hall Syndrome
Microphthalmia, Ectopic kidney, Hypospadias, Unilateral renal agenesis, Bilateral renal agenesis,... ORPHA:672
Roberts-Sc Phocomelia Syndrome
Microphthalmia, Hypospadias, Long penis, Accessory spleen, Polycystic kidney dysplasia, Biliary t... OMIM:268300
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia OMIM:608670
Holoprosencephaly 1
Microphthalmia, Micropenis OMIM:236100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Microphthalmia, Hypoplasia of the retina OMIM:253280
Microphthalmia, Syndromic 6
Renal hypoplasia, Microphthalmia, Anophthalmia OMIM:607932
Witteveen-Kolk Syndrome
Microphthalmia, Hypospadias, Phimosis, Microphallus, Male urethral meatus stenosis OMIM:613406
Monosomy 13Q14
Microphthalmia ORPHA:1587
Branchiooculofacial Syndrome
Microphthalmia, Hypospadias, Anophthalmia, Renal cyst, Renal agenesis OMIM:113620
Frontofacionasal Dysplasia
Microphthalmia OMIM:229400
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Microphthalmia, Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Pelvic kidney, V... ORPHA:261537
Mowat-Wilson Syndrome
Abnormality of the kidney, Microphthalmia, Urinary incontinence, Hypospadias, Multicystic kidney ... ORPHA:2152
Neu-Laxova Syndrome 1
Renal agenesis, Microphthalmia 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
Microphthalmia, Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Pelvic kidney, V... ORPHA:261552
Craniofacial Microsomia 1
Microphthalmia, Ectopic kidney, Anophthalmia, Vesicoureteral reflux, Renal agenesis, Ureteropelvi... OMIM:164210
Neuroocular Syndrome
Microphthalmia, Hypoplasia of the fovea, Lens coloboma OMIM:619539
Adams-Oliver Syndrome 1
Microphthalmia OMIM:100300
Mowat-Wilson Syndrome
Abnormality of the kidney, Microphthalmia, Hypospadias OMIM:235730
Microphthalmia, Syndromic 1
Microphthalmia, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Anophthalmia, Renal hypoplasia OMIM:309800
Autosomal Dominant Kenny-Caffey Syndrome
Bilateral microphthalmos ORPHA:93325
Norrie Disease
Microphthalmia, Hypoplasia of the iris, Aplasia/Hypoplasia of the lens ORPHA:649
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Microphthalmia, Hypoplasia of the iris 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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