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Gene: Uggt1 MGI:2443162

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Gene Summary

Name:
UDP-glucose glycoprotein glucosyltransferase 1
Synonyms:
C820010P03Rik,  0910001L17Rik,  A930007H10Rik,  Ugcgl1

Order Alleles

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 blood vessel morphology Uggt1em1(IMPC)Mbp HET E15.5 0.00
small kidney Uggt1em1(IMPC)Mbp HET Early adult 0.00
abnormal neural tube closure Uggt1em1(IMPC)Mbp HOM E9.5 0.00
anophthalmia Uggt1em1(IMPC)Mbp HOM E15.5 0.00
abnormal pharyngeal arch morphology Uggt1em1(IMPC)Mbp HOM E9.5 0.00
embryonic growth retardation Uggt1em1(IMPC)Mbp HOM E15.5 0.00
cataract Uggt1em1(IMPC)Mbp HET   Early adult 7.88×10-08
edema Uggt1em1(IMPC)Mbp HOM E15.5 0.00
preweaning lethality, complete penetrance Uggt1em1(IMPC)Mbp HOM   Early adult 0.00
abnormal placenta morphology Uggt1em1(IMPC)Mbp HOM E15.5 0.00
abnormal placenta morphology Uggt1em1(IMPC)Mbp HET E15.5 0.00
abnormal vitreous body morphology Uggt1em1(IMPC)Mbp HET   Early adult 4.05×10-08
abnormal heart morphology Uggt1em1(IMPC)Mbp HOM E9.5 0.00
abnormal liver morphology Uggt1em1(IMPC)Mbp HET Early adult 0.00
small heart Uggt1em1(IMPC)Mbp HET Early adult 0.00
abnormal craniofacial morphology Uggt1em1(IMPC)Mbp HOM E15.5 0.00
edema Uggt1em1(IMPC)Mbp HET E15.5 0.00
abnormal midbrain development Uggt1em1(IMPC)Mbp HOM E9.5 0.00
abnormal visceral yolk sac morphology Uggt1em1(IMPC)Mbp HOM E9.5 0.00
abnormal neural tube morphology Uggt1em1(IMPC)Mbp HOM E9.5 0.00
enlarged heart Uggt1em1(IMPC)Mbp HET Early adult 0.00
abnormal embryo turning Uggt1em1(IMPC)Mbp HOM E9.5 0.00
abnormal facial morphology Uggt1em1(IMPC)Mbp HOM E15.5 0.00
abnormal heart morphology Uggt1em1(IMPC)Mbp HET Early adult 0.00
embryonic growth retardation Uggt1em1(IMPC)Mbp HOM E9.5 0.00
abnormal kidney morphology Uggt1em1(IMPC)Mbp HET Early adult 0.00
abnormal allantois morphology Uggt1em1(IMPC)Mbp HOM E9.5 0.00
abnormal vitelline vasculature morphology Uggt1em1(IMPC)Mbp HOM E9.5 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

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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MicroCT E9.5

Embryo reconstruction

8 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

3 Images

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Human diseases caused by Uggt1 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 Uggt1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Corneal Dystrophy, Fuchs Endothelial, 3
Edema OMIM:613267
Lipedema
Edema OMIM:614103
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy, Hepatomegaly, Cataract ORPHA:79281
Ethanolaminosis
Cardiomegaly OMIM:227150
Angioedema, Hereditary, 6
Angioedema, Facial edema, Edema of the dorsum of hands OMIM:619363
Fryns Microphthalmia Syndrome
Anophthalmia, Neural tube defect, Microphthalmia OMIM:600776
Cataract 20, Multiple Types
Membranous cataract, Cataract OMIM:116100
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos, Holoprosencephaly OMIM:611638
Lambert Syndrome
Ventricular septal defect, Intrauterine growth retardation, Branchial anomaly ORPHA:1296
Anencephaly 2
Anencephaly, Anophthalmia OMIM:619452
Meckel Syndrome, Type 8
Encephalocele, Short neck, Anophthalmia, Microphthalmia OMIM:613885
Galactosemia Ii
Cataract, Galactosuria, Prolonged neonatal jaundice OMIM:230200
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Anophthalmia, Microphthalmia OMIM:164180
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Ventricular septal d... OMIM:614876
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cataract, Cardiomyopathy OMIM:225740
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Neutropenia, Severe Congenital, 9, Autosomal Dominant
3-Methylglutaconic aciduria, Cataract, Splenomegaly OMIM:619813
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Hydrolethalus
Hydrocephalus, Anencephaly, Arrhinencephaly, Anophthalmia, Polyhydramnios, Microphthalmia ORPHA:2189
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Microphthalmia, Syndromic 12
Ventricular septal defect, Anophthalmia, Hypoplastic left atrium, Microphthalmia OMIM:615524
Combined Oxidative Phosphorylation Deficiency 33
Nephrotic syndrome, Hepatomegaly, Left ventricular hypertrophy, Astigmatism, Elevated hepatic tra... OMIM:617713
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia, Anophthalmia, Microphthalmia OMIM:221950
Galactosemia Iv
Cataract, Prolonged neonatal jaundice OMIM:618881
Anophthalmia Plus Syndrome
Spina bifida, Anophthalmia ORPHA:1104
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Holoprosencephaly, Anophthalmia, Ventricular septal defect, Patent ductus arterios... ORPHA:77298
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane, Abnorma... ORPHA:1067
Trisomy 13
Atrial septal defect, Hydrops fetalis, Anophthalmia, Ventricular septal defect, Cystic hygroma, P... ORPHA:3378
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Retinal detachment, Megalocornea, Astigmatism, Iridod... OMIM:309300
Trisomy 1Q
Hydrocephalus, Hydrops fetalis, Anophthalmia, Ventricular septal defect, Polyhydramnios, Cystic h... ORPHA:261344
Galactose Epimerase Deficiency
Hepatomegaly, Aminoaciduria, Splenomegaly, Cataract, Jaundice ORPHA:79238
X-Linked Mandibulofacial Dysostosis
Abnormal mitral valve morphology, Short stature, Pulmonic stenosis, Branchial anomaly, Webbed neck ORPHA:1131
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment, Cataract OMIM:147610
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Short stature OMIM:609166
Vacterl With Hydrocephalus
Hydrocephalus, Aqueductal stenosis, Anophthalmia, Arrhinencephaly, Polyhydramnios, Microphthalmia... ORPHA:3412
Senior-Loken Syndrome
Chronic kidney disease, Abnormality of retinal pigmentation, Nephronophthisis, Congenital hepatic... ORPHA:3156
3-Methylglutaconic Aciduria Type 4
Decreased liver function, Iris hypopigmentation, 3-Methylglutaconic aciduria, Cataract, Cardiomyo... ORPHA:67048
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypoplasia of penis, Hypospadias, Aplasia/Hypoplasia of the lens, Tetralogy of Fallot, Cataract ORPHA:1381
Morm Syndrome
Cataract, Retinal atrophy, Micropenis ORPHA:75858
Familial Atrial Myxoma
Bacterial endocarditis, Cholestasis, Pulmonic valve myxoma, Jaundice, Cardiomegaly, Cardiac myxoma ORPHA:615
Pulmonary Edema Of Mountaineers, Susceptibility To
Pulmonary edema, Edema OMIM:178400
Refsum Disease, Classic
Retinal degeneration, Abnormal renal physiology, Cataract, Cardiomyopathy, Cardiomegaly OMIM:266500
Mulibrey Nanism
Myocardial fibrosis, Hepatomegaly, Pigmentary retinopathy, Astigmatism, Iris coloboma, Corneal dy... OMIM:253250
Congenital Toxoplasmosis
Abnormality of retinal pigmentation, Hepatomegaly, Elevated hepatic transaminase, Jaundice, Cardi... ORPHA:858
Attrv30M Amyloidosis
Nephropathy, Cardiomyopathy, Cardiomegaly, Abnormal renal physiology ORPHA:85447
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the iris, Ca... OMIM:617319
Cardiomyopathy, Familial Hypertrophic 27
Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, Endocardial fibroelastosis... OMIM:618052
Cataract 9, Multiple Types
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract OMIM:604219
Neuraminidase Deficiency
Hepatomegaly, Splenomegaly, Urinary excretion of sialylated oligosaccharides, Increased urinary O... OMIM:256550
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Macrovesicular hepatic steatosis, Elevated hepatic transaminase, Dilated cardiomyop... OMIM:600649
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Hypertrophic cardiomyopathy, Cataract, Corneal dystrophy ORPHA:1369
Chilblain Lupus 2
Edema OMIM:614415
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion OMIM:618773
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Endocardial fibroelastosis, Elevated hepatic transaminase, Decreased carnitine leve... OMIM:212140
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Cystic renal dysplasia, Ectopic kidney, Cataract OMIM:613730
Solitary Median Maxillary Central Incisor
Short stature, Microphthalmia, Anophthalmia, Holoprosencephaly OMIM:147250
Leber Congenital Amaurosis 1
Hepatomegaly, Pigmentary retinopathy, Optic disc drusen, Keratoconus, Cataract, Hyperthreoninuria OMIM:204000
Galactose Mutarotase Deficiency
Decreased liver function, Hepatomegaly, Cataract, Cholestasis ORPHA:570422
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Lymphatic Malformation 2
Lymphedema OMIM:611944
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Peripapillary atrophy, Cataract, Macular degeneration OMIM:618195
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Retinal detachment, Posterior embryotoxon, Hematuria, Optic atrophy, Iris colobo... ORPHA:1473
Retinitis Pigmentosa 84
Macular coloboma, Cataract, Macular atrophy OMIM:618220
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Atrial septal defect, Atrioventricular canal defect, Ventricular septal de... ORPHA:453499
Coats Disease
Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris, Retinal detachment, Cataract ORPHA:190
Alpha-N-Acetylgalactosaminidase Deficiency
Cataract, Oligosacchariduria, Cardiomegaly ORPHA:3137
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Hemochromatosis, Type 4
Hepatomegaly, Cirrhosis, Cataract, Hepatic steatosis, Cardiomyopathy OMIM:606069
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Mitochondrial Complex I Deficiency, Nuclear Type 36
Optic disc pallor, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Severe postnatal growth retardation ORPHA:435938
Microphthalmia, Syndromic 9
Atrial septal defect, Short stature, Pulmonic stenosis, Single ventricle, Anophthalmia, Tetralogy... OMIM:601186
Carnitine Palmitoyltransferase I Deficiency
Renal tubular acidosis, Hepatomegaly, Elevated hepatic transaminase, Hepatic steatosis, Cardiomegaly OMIM:255120
Holoprosencephaly
Abnormal pulmonary valve morphology, Hydrocephalus, Microphthalmia, Holoprosencephaly, Short neck... ORPHA:2162
Infantile Sialic Acid Storage Disease
Nephrotic syndrome, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:269920
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula, Short stature ORPHA:50815
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Cataract ORPHA:1345
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Lens subluxation, Cataract OMIM:614292
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly OMIM:619064
Triokinase And Fmn Cyclase Deficiency Syndrome
Pancreatitis, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Dilated ... OMIM:618805
Congenital Rubella Syndrome
Corneal opacity, Abnormality of retinal pigmentation, Atrial septal defect, Hepatomegaly, Splenom... ORPHA:290
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Cataract 47
Glycosuria, Cataract, Microcornea OMIM:612018
Thanatophoric Dysplasia, Glasgow Variant
Hepatosplenomegaly, Cataract OMIM:273680
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Posterior lenticonus, Microcornea, Iris coloboma ORPHA:231736
Lymphatic Malformation 7
Pulmonary edema, Facial edema, Nonimmune hydrops fetalis, Lymphedema, Edema, Pericardial effusion OMIM:617300
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Dicarboxylic aciduria, Exercise-induc... OMIM:201475
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Peters anomaly, Patent foramen ovale, Cardiomegaly OMIM:618652
Stickler Syndrome Type 2
Corneal opacity, Retinal detachment, Cataract ORPHA:90654
Meckel Syndrome
Hydrocephalus, Anencephaly, Anophthalmia, Situs inversus totalis, Aplasia/Hypoplasia of the iris,... ORPHA:564
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... ORPHA:860
Fibular Hemimelia
Spina bifida, Anophthalmia, Abnormal heart morphology ORPHA:93323
White Sponge Nevus 2
Edema OMIM:615785
Microphthalmia, Isolated 3
Anophthalmia, Microphthalmia OMIM:611038
Hemochromatosis, Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated hepatic transaminase, C... OMIM:235200
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Splenomegaly, Heparan sulfate excretion in urine, Asymmetric septal hypertrophy, Ca... OMIM:252920
Microgastria-Limb Reduction Defects Association
Type I truncus arteriosus, Secundum atrial septal defect, Arrhinencephaly, Anophthalmia OMIM:156810
Aniridia 2
Lens subluxation, Optic atrophy, Iris coloboma, Cataract, Aniridia OMIM:617141
Microphthalmia With Limb Anomalies
Postnatal growth retardation, Anophthalmia, Growth delay, Microphthalmia OMIM:206920
Cockayne Syndrome Type 2
Intrauterine growth retardation, Anophthalmia, Delayed eruption of primary teeth ORPHA:90322
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Anophthalmia, True anophthalmia, Microphthalmia OMIM:615113
Weill-Marchesani Syndrome
Aortic valve stenosis, Pulmonic stenosis, Ventricular septal defect, Cataract, Ectopia lentis ORPHA:3449
Persistent Hyperplastic Primary Vitreous
Remnants of the hyaloid vascular system, Corneal opacity, Shallow anterior chamber, Buphthalmos, ... ORPHA:91495
Aminopterin/Methotrexate Embryofetopathy
Hydrocephalus, Holoprosencephaly, Short stature, Anencephaly, Tetralogy of Fallot, Ventricular se... ORPHA:1908
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Dicarboxylic aciduria, Elevated hepatic transaminase, Ele... ORPHA:42
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Tricuspid valve prolapse, Aniridia, Anophthalmia, Umbilical hernia ORPHA:1101
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Cataract OMIM:615184
Walker-Warburg Syndrome
Hydrocephalus, Anophthalmia, Microphthalmia ORPHA:899
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Opacification of the corneal stroma, Pigmentary r... OMIM:614866
Gaucher Disease, Type Iiic
Mitral stenosis, Aortic valve calcification, Hepatomegaly, Splenomegaly, Mitral valve calcificati... OMIM:231005
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... ORPHA:555874
Aniridia-Intellectual Disability Syndrome
Optic nerve hypoplasia, Cataract, Ectopia lentis, Aniridia ORPHA:1068
Galactosemia I
Increased level of galactitol in urine, Decreased liver function, Hepatomegaly, Aminoaciduria, Ci... OMIM:230400
Fucosidosis
Corneal opacity, Hepatomegaly, Abnormality of the gallbladder, Mucopolysacchariduria, Cardiomegaly ORPHA:349
Microgastria-Limb Reduction Defect Syndrome
Atrial septal defect, Anophthalmia, Arrhinencephaly, Congenital muscular torticollis, Microphthal... ORPHA:2538
Coloboma, Ocular, Autosomal Dominant
Remnants of the hyaloid vascular system, Corneal opacity, Optic disc coloboma, Peters anomaly, Op... OMIM:120200
Transketolase Deficiency
Atrial septal defect, Hepatomegaly, Increased level of ribose in urine, Ventricular septal defect... ORPHA:488618
Cerebrooculonasal Syndrome
Hydrocephalus, Optic nerve hypoplasia, Anophthalmia, Postnatal growth retardation, Encephalocele OMIM:605627
Oligomeganephronia
Branchial cyst, Dehydration, Secundum atrial septal defect ORPHA:2260
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Polyhydramnios, Lymphedema, Facial edema, Edema OMIM:618154
Joubert Syndrome 21
Occipital encephalocele, Anophthalmia OMIM:615636
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lipid accumulation in hepatocytes, Long-chain dicarboxylic aciduria, Hepatomegaly, Hepatic calcif... OMIM:608836
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Timothy Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly OMIM:601005
Exfoliation Syndrome
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... OMIM:177650
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Increased hepatic glycogen content, Chronic hepatitis, Elevated circulating asparta... OMIM:614921
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Remnants of the hyaloid vascular system, Corneal opacity, Shallow anterior chamber, Buphthalmos, ... OMIM:221900
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bicuspid aortic valve, Atrial septal defect, Optic nerve hypoplasia, Ventricular septal defect, C... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bicuspid aortic valve, Atrial septal defect, Optic nerve hypoplasia, Ventricular septal defect, C... ORPHA:352665
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Cataract, Corneal guttata OMIM:193230
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula OMIM:113650
Peroxisome Biogenesis Disorder 10B
Cataract, Nephrocalcinosis, Neurogenic bladder, Prolonged neonatal jaundice OMIM:617370
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrioventricul... ORPHA:3092
Bor Syndrome
Branchial cyst ORPHA:107
Distal 22Q11.2 Microdeletion Syndrome
Atrial septal defect, Short stature, Branchial fistula, Ventricular septal defect, Growth delay, ... ORPHA:261330
Cardiomyopathy, Familial Hypertrophic, 4
Right atrial enlargement, Hepatomegaly, Myofiber disarray, Muscular ventricular septal defect, Ve... OMIM:115197
Danon Disease
Myocardial fibrosis, Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ca... OMIM:300257
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hepatomegaly, Aminoaciduria, Opacification of the corneal stroma, Pigmentary retinopathy, Intrahe... OMIM:214110
Cerebrooculonasal Syndrome
Anophthalmia ORPHA:66625
Distal 22Q11.2 Microduplication Syndrome
Tricuspid valve prolapse, Hydrocephalus, Branchial fistula, Palpebral edema, Ventricular septal d... ORPHA:261337
Charge Syndrome
Abnormal cardiac septum morphology, Aqueductal stenosis, Holoprosencephaly, Short stature, Abnorm... ORPHA:138
Matthew-Wood Syndrome
Intrauterine growth retardation, Anophthalmia, Microphthalmia ORPHA:2470
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Increased hepatic glycogen content, Optic atrophy, 3-Methylglutaconic aciduria, Cardiomyopathy, C... OMIM:619259
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Abnormality of retinal pigmentation, Lens subluxation, Retinal detachment, Cataract ORPHA:171844
Sickle Cell Anemia
Cholelithiasis, Hepatomegaly, Splenomegaly, Hematuria, Renal insufficiency, Jaundice, Cardiomegaly OMIM:603903
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Hepatic failure, Hepatic calcification, Myoglobinuria, Cystic renal dysplasia, Red-... ORPHA:228308
Attrv122I Amyloidosis
Cardiac amyloidosis, Aortic valve stenosis, Restrictive cardiomyopathy, Left ventricular hypertro... ORPHA:85451
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Cirrhotic Cardiomyopathy
Right atrial enlargement, Hepatomegaly, Left ventricular hypertrophy, Cirrhosis, Conjunctival ict... ORPHA:57777
Hsd10 Disease, Infantile Type
Retinal degeneration, Abnormal concentration of acylcarnitine in the urine, Optic atrophy, Hypert... ORPHA:391428
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Chylous ascites, Palpebral edema, Nonimmune hydrops fetalis, Polyhydra... OMIM:265300
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Atrioventricular canal defect, Biliary atresia, Enlarged kidney, Ventricular septal... OMIM:306955
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:619051
Microphthalmia, Syndromic 3
Short stature, Optic nerve hypoplasia, Anophthalmia, Ventricular septal defect, Patent ductus art... OMIM:206900
Morning Glory Disc Anomaly
Abnormality of retinal pigmentation, Cataract, Retinal detachment, Optic disc coloboma ORPHA:35737
Idiopathic Pulmonary Hemosiderosis
Glomerulonephritis, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly ORPHA:99931
Microphthalmia, Syndromic 2
Double outlet right ventricle, Aortic valve stenosis, Atrial septal defect, Persistence of primar... OMIM:300166
Autosomal Dominant Keratitis
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... ORPHA:2334
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Microphthalmia ORPHA:139471
Alg3-Cdg
Cardiomyopathy, Neural tube defect ORPHA:79321
Symptomatic Form Of Hemochromatosis Type 1
Cholangiocarcinoma, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Chronic hepa... ORPHA:465508
Leigh Syndrome With Nephrotic Syndrome
Nephrotic syndrome, Renal tubular acidosis, Tubulointerstitial nephritis, Renal cyst, Cardiomegal... ORPHA:255249
Posterior Meningocele
Occipital meningocele, Hydrocephalus, Neural tube defect, Limitation of neck motion, Meningocele,... ORPHA:268810
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Short stature, Anophthalmia, Microphthalmia OMIM:610125
Charge Syndrome
Double outlet right ventricle, Secundum atrial septal defect, Atrial septal defect, Microphthalmi... OMIM:214800
Polycystic Kidney, Cataract, And Congenital Blindness
Hypoplasia of the retina, Microcoria, Polycystic kidney dysplasia, Cataract OMIM:263100
Coronary Arterial Fistula
Bacterial endocarditis, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Paten... ORPHA:2041
Cataract 15, Multiple Types
Nuclear cataract, Lamellar cataract, Cataract, Developmental cataract, Cortical cataract OMIM:615274
Wolfram Syndrome 1
Hydroureter, Neurogenic bladder, Pigmentary retinopathy, Optic atrophy, Cataract, Hydronephrosis,... OMIM:222300
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Cantu Syndrome
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion, Cardiomegaly OMIM:239850
Anterior Segment Dysgenesis 7
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Sclerocornea OMIM:269400
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Atrial septal defect, Chylothorax, Microphthalmia, Severe short stature, Anophthalmia, Lymphedema... ORPHA:2526
Coloboma, Ocular, Autosomal Recessive
Lens subluxation, Retinal coloboma, Optic disc coloboma, Iris coloboma, Cataract OMIM:216820
Treacher-Collins Syndrome
Branchial fistula, Microphthalmia, Patent ductus arteriosus, Encephalocele ORPHA:861
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Cardiomegaly, Urinary incontinence OMIM:105210
Norrie Disease
Corneal opacity, Shallow anterior chamber, Buphthalmos, Retinal detachment, Opacification of the ... OMIM:310600
Cockayne Syndrome Type 1
Postnatal growth retardation, Anophthalmia, Delayed eruption of primary teeth ORPHA:90321
Microphthalmia With Linear Skin Defects Syndrome
Tricuspid valve prolapse, Abnormal cardiac septum morphology, Hydrocephalus, Severe short stature... ORPHA:2556
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Micropenis, Hypospadias, Ventricular septal defect, Hydronephrosis, Hypertrophic cardiomyopathy, ... OMIM:616897
Alagille Syndrome 1
Exocrine pancreatic insufficiency, Band keratopathy, Hepatic failure, Reduced number of intrahepa... OMIM:118450
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Aorta Coarctation
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Abnorma... ORPHA:1457
Amoebic Keratitis
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... ORPHA:67043
Anterior Segment Dysgenesis 2
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... OMIM:610256
Holoprosencephaly 9
Hydrocephalus, Holoprosencephaly, Short stature, Optic nerve hypoplasia, Anophthalmia, Microphtha... OMIM:610829
Fraser Syndrome 1
Myelomeningocele, Hydrocephalus, Anophthalmia, Bilateral microphthalmos, Encephalocele, Abnormal ... OMIM:219000
Craniorachischisis
Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Pierson Syndrome
Remnants of the hyaloid vascular system, Nephrotic syndrome, Diffuse mesangial sclerosis, Retinal... OMIM:609049
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Pseudo-Torch Syndrome 3
Acute kidney injury, Proteinuria, Cardiomegaly OMIM:618886
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mitral valve prolapse, Abnormal atrioventricular valve morphology, Aortic valve stenosis, Cardiom... ORPHA:324410
Papillorenal Syndrome
Nephrolithiasis, Chronic kidney disease, Absence of renal corticomedullary differentiation, Macul... OMIM:120330
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect, Patent forame... ORPHA:439
Focal Dermal Hypoplasia
Myelomeningocele, Hydrocephalus, Short stature, Anophthalmia, Delayed eruption of teeth, Spina bi... OMIM:305600
Alport Syndrome 2, Autosomal Recessive
Nephrotic syndrome, Nephritis, Hematuria, Cataract, Renal insufficiency, Proteinuria, Anterior le... OMIM:203780
Histiocytosis-Lymphadenopathy Plus Syndrome
Atrial septal defect, Hepatomegaly, Micropenis, Pulmonic stenosis, Splenomegaly, Hepatosplenomega... OMIM:602782
Proboscis Lateralis
Holoprosencephaly, Optic nerve hypoplasia, Anophthalmia, Ventricular septal defect, Patent ductus... ORPHA:141099
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Oligosacchariduria, Left ventricular hypertrophy, Elevated circulating alanine amin... ORPHA:308552
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Fucosidosis
Glycopeptiduria, Tortuosity of conjunctival vessels, Hepatomegaly, Oligosacchariduria, Splenomega... OMIM:230000
Histiocytoid Cardiomyopathy
Congenital aphakia, Corneal opacity, Hepatomegaly, Megalocornea, Ventricular septal defect, Optic... ORPHA:137675
Fraser Syndrome
Myelomeningocele, Anophthalmia, Umbilical hernia, Microphthalmia, Encephalocele ORPHA:2052
Complete Atrioventricular Septal Defect
Hepatomegaly, Primum atrial septal defect, Right ventricular hypertrophy, Displacement of the pap... ORPHA:1329
Microphthalmia With Limb Anomalies
Hydrocephalus, Short stature, Arrhinencephaly, True anophthalmia, Microphthalmia ORPHA:1106
Mucopolysaccharidosis Type 3
Abnormal mitral valve morphology, Corneal opacity, Hepatomegaly, Retinal degeneration, Splenomega... ORPHA:581
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Sandhoff Disease
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly, Urinary incontinence OMIM:268800
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Rhizomelia, Anophthalmia, Microphthalmia OMIM:615877
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Iniencephaly
Myelomeningocele, Hydrocephalus, Holoprosencephaly, Anencephaly, Polyhydramnios, Spinal dysraphis... ORPHA:63259
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Cardiomyopathy, Cardiomegaly OMIM:261740
Knobloch Syndrome
Macular degeneration, Retinal detachment, Bifid ureter, Dextrocardia, Cataract, Vesicoureteral re... ORPHA:1571
Beckwith-Wiedemann Syndrome
Nephrolithiasis, Renal cortical cysts, Hepatomegaly, Hepatoblastoma, Pancreatic hyperplasia, Enla... OMIM:130650
8Q24.3 Microdeletion Syndrome
Atrioventricular canal defect, Short stature, Optic nerve hypoplasia, Short neck, Spina bifida oc... ORPHA:508488
Branchiooculofacial Syndrome
Short neck, Anophthalmia, Branchial anomaly, Microphthalmia, Postnatal growth retardation, Intrau... OMIM:113620
Craniofacial Microsomia
Hydrocephalus, Microphthalmia, Anophthalmia, Tetralogy of Fallot, Ventricular septal defect, Pate... OMIM:164210
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Ventricular septal defect, Ab... ORPHA:363705
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anophthalmia, Failure of eruption of permanent teeth, Microphthalmia ORPHA:2250
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Optic nerve aplasia, Optic nerve hypoplasia OMIM:165550
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Overriding aorta, Cardiomegaly OMIM:617022
Mogs-Cdg
Atrial septal defect, Hepatomegaly, Left ventricular hypertrophy, Hepatosplenomegaly, Optic atrop... ORPHA:79330
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Retinal detachment, Peters anoma... OMIM:614643
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Cardiomegaly, Renal artery stenosis OMIM:208000
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia, Short stature ORPHA:264200
Abetalipoproteinemia
Corneal ulceration, Abnormality of retinal pigmentation, Hepatomegaly, Cirrhosis, Elevated hepati... ORPHA:14
Cataract 5, Multiple Types
Nuclear cataract, Zonular cataract, Anterior polar cataract, Lamellar cataract, Pulverulent cataract OMIM:116800
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart morphology OMIM:114620
Oculo-Palato-Cerebral Syndrome
Remnants of the hyaloid vascular system, Retinal detachment, Cataract, Leukocoria ORPHA:2714
Linear Skin Defects With Multiple Congenital Anomalies 1
Chordee, Atrial septal defect, Micropenis, Hypospadias, Pigmentary retinopathy, Ventricular septa... OMIM:309801
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Hepatic failure, Splenomegaly, Hepatosplenomegaly, Cardiomegaly OMIM:608013
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Pollakisuria, Cardiomegaly, Right ventricular hypertrophy ORPHA:268
Glycogen Storage Disease Ii
Hepatomegaly, Splenomegaly, Cardiomegaly, Urinary incontinence OMIM:232300
Oculoauricular Syndrome
Microphakia, Retinal coloboma, Retinal detachment, Posterior embryotoxon, Microcornea, Iris colob... OMIM:612109
Aniridia 1
Corneal neovascularization, Optic nerve hypoplasia, Ectopia pupillae, Opacification of the cornea... OMIM:106210
Cantú Syndrome
Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:1517
Naxos Disease
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Dilated ca... OMIM:601214
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Abnormality of the hepatic vasculature, Hepatomegaly, Right ventricular... ORPHA:1677
Liver Disease, Severe Congenital
Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic failure, Ventricular septal defect, Panc... OMIM:619991
Witteveen-Kolk Syndrome
Short stature, Branchial fistula, Polyhydramnios, Microphthalmia, Growth delay, Intrauterine grow... OMIM:613406
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Splenomegaly, Megalocornea, Opacification of the corneal stroma, Enlarged kidney, M... OMIM:252500
Bohring-Opitz Syndrome
Cholelithiasis, Abnormal cardiac septum morphology, Annular pancreas, Optic atrophy, Urinary rete... ORPHA:97297
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Atrial septal defect, Left ventricular hypertrophy, Mitral valve prolapse,... OMIM:245600
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Partial atrioventricular canal defect, Bicuspid aortic valve, Atrial septal defect, Secundum atri... OMIM:620066
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatocellular necrosis, Microvesicular hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Vent... OMIM:618278
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Opacification of the corneal stroma, Cardiomegaly ORPHA:79280
Autoimmune Polyendocrine Syndrome, Type Ii
Exocrine pancreatic insufficiency, Band keratopathy, Cirrhosis, Chronic hepatitis, Keratoconjunct... OMIM:269200
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly OMIM:618143
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Cardiomegaly ORPHA:158687
Proximal Renal Tubular Acidosis
Nephrolithiasis, Band keratopathy, Aminoaciduria, Hyperuricosuria, Glycosuria, Global proximal tu... ORPHA:47159
Congenital Tracheomalacia
Atrial septal defect, Single ventricle, Tetralogy of Fallot, Ventricular septal defect, Partial a... ORPHA:95430
Beckwith-Wiedemann Syndrome
Nephrolithiasis, Exocrine pancreatic insufficiency, Abnormal pancreas morphology, Hepatomegaly, H... ORPHA:116
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Atrial septal defect, Tetralogy of Fallot, Truncus arteriosus... ORPHA:980
Ogden Syndrome
Global glomerulosclerosis, Bicuspid aortic valve, Secundum atrial septal defect, Atrial septal de... OMIM:300855
Aicardi-Goutières Syndrome
Prolonged neonatal jaundice, Micropenis, Hepatosplenomegaly, Elevated hepatic transaminase, Devel... ORPHA:51
Williams Syndrome
Cholelithiasis, Abnormal cardiac septum morphology, Blue irides, Megalocornea, Ventricular septal... ORPHA:904
Truncus Arteriosus
Atrial septal defect, Right ventricular hypertrophy, Pulmonic stenosis, Tetralogy of Fallot, Vent... ORPHA:3384
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly, Abnormality iris morphology ORPHA:91387
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Oligosacchariduria, Left ventricular hypertrophy, Elevated circulating alanine amin... ORPHA:365
Paternal Uniparental Disomy Of Chromosome 6
Ventricular septal defect, Hepatomegaly, Cardiomegaly ORPHA:96191
Congenital Total Pulmonary Venous Return Anomaly
Double outlet right ventricle, Cardiac total anomalous pulmonary venous connection, Atrial septal... ORPHA:99125
Neuroocular Syndrome
Remnants of the hyaloid vascular system, Blue irides, Stellate iris, Microcornea, Peters anomaly,... OMIM:619539
Norrie Disease
Remnants of the hyaloid vascular system, Corneal opacity, Abnormal pupil morphology, Anterior cha... ORPHA:649
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Right ventricular hypertroph... OMIM:300967
Yunis-Varon Syndrome
Atrial septal defect, Micropenis, Hypospadias, Sclerocornea, Tetralogy of Fallot, Renovascular hy... ORPHA:3472
Semilobar Holoprosencephaly
Hydrocephalus, Short stature, Neural tube defect, Growth delay, Abnormal heart morphology ORPHA:220386
Alobar Holoprosencephaly
Hydrocephalus, Short stature, Neural tube defect, Growth delay, Abnormal heart morphology ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Hydrocephalus, Short stature, Neural tube defect, Growth delay, Abnormal heart morphology ORPHA:93926
Lobar Holoprosencephaly
Hydrocephalus, Short stature, Neural tube defect, Growth delay, Abnormal heart morphology ORPHA:93924
Neurofibromatosis Type 2
Cortical cataract, Remnants of the hyaloid vascular system, Posterior subcapsular cataract ORPHA:637
Generalized Arterial Calcification Of Infancy
Medullary nephrocalcinosis, Hepatic calcification, Retinal hemorrhage, Pancreatic calcification, ... ORPHA:51608
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Splenomegaly, Restrictive cardiomyopathy, Endocar... ORPHA:75565
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Splenomegaly, Punctate opacification of the cornea, Elevated hepatic transaminase, ... OMIM:256040
Microphthalmia, Syndromic 6
Anophthalmia, Microphthalmia OMIM:607932
Schinzel-Giedion Syndrome
Short neck, Delayed eruption of teeth, Neural tube defect, Umbilical hernia, Abnormal heart morph... ORPHA:798
Microphthalmia, Syndromic 1
Bicuspid aortic valve, Anophthalmia, Microphthalmia, Growth delay, Webbed neck OMIM:309800
Holoprosencephaly 2
Single ventricle, Remnants of the hyaloid vascular system, Iris coloboma OMIM:157170
Singleton-Merten Syndrome 1
Aortic valve calcification, Aortic valve stenosis, Mitral valve calcification, Subvalvular aortic... OMIM:182250

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 Uggt1

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 Uggt1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
UGGT1 enhances enterovirus 71 pathogenicity by promoting viral RNA synthesis and viral replication. PLoS pathogens (May 2017) Uggt1tm1a(KOMP)Wtsi PMC5435352

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MGI Allele Allele Type Produced
Uggt1em1(IMPC)Mbp Exon Deletion Mice, Tissue
Uggt1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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