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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 allantois morphology Uggt1em1(IMPC)Mbp HOM E9.5 0.00
abnormal neural tube morphology Uggt1em1(IMPC)Mbp HOM E9.5 0.00
embryonic growth retardation Uggt1em1(IMPC)Mbp HOM E9.5 0.00
abnormal pharyngeal arch morphology Uggt1em1(IMPC)Mbp HOM E9.5 0.00
abnormal placenta morphology Uggt1em1(IMPC)Mbp HET E15.5 0.00
abnormal vitreous body morphology Uggt1em1(IMPC)Mbp HET Early adult 2.24×10-05
abnormal vitelline vasculature morphology Uggt1em1(IMPC)Mbp HOM E9.5 0.00
abnormal neural tube closure Uggt1em1(IMPC)Mbp HOM E9.5 0.00
abnormal embryo turning Uggt1em1(IMPC)Mbp HOM E9.5 0.00
abnormal visceral yolk sac morphology Uggt1em1(IMPC)Mbp HOM E9.5 0.00
abnormal placenta morphology Uggt1em1(IMPC)Mbp HOM E15.5 0.00
abnormal retina morphology Uggt1em1(IMPC)Mbp HET   Early adult 7.98×10-08
small heart Uggt1em1(IMPC)Mbp HET Early adult 0.00
anophthalmia Uggt1em1(IMPC)Mbp HOM E15.5 0.00
abnormal kidney morphology Uggt1em1(IMPC)Mbp HET Early adult 0.00
enlarged heart Uggt1em1(IMPC)Mbp HET Early adult 0.00
abnormal heart morphology Uggt1em1(IMPC)Mbp HOM E9.5 0.00
abnormal midbrain development Uggt1em1(IMPC)Mbp HOM E9.5 0.00
cataract Uggt1em1(IMPC)Mbp HET Early adult 2.55×10-05
embryonic growth retardation Uggt1em1(IMPC)Mbp HOM E15.5 0.00
abnormal heart morphology Uggt1em1(IMPC)Mbp HET Early adult 0.00
abnormal craniofacial morphology Uggt1em1(IMPC)Mbp HOM E15.5 0.00
abnormal facial morphology Uggt1em1(IMPC)Mbp HOM E15.5 0.00
abnormal liver morphology Uggt1em1(IMPC)Mbp HET Early adult 0.00
preweaning lethality, complete penetrance Uggt1em1(IMPC)Mbp HOM   Early adult 0.00
abnormal blood vessel morphology Uggt1em1(IMPC)Mbp HET E15.5 0.00
small kidney Uggt1em1(IMPC)Mbp HET Early adult 0.00
edema Uggt1em1(IMPC)Mbp HET E15.5 0.00
edema Uggt1em1(IMPC)Mbp HOM E15.5 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 Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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Gross Morphology Embryo E9.5

Images

27 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E9.5

Embryo reconstruction

8 Images

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Gross Morphology Embryo E14.5-E15.5

Images

17 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
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
Lipedema
Edema OMIM:614103
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract, Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:79281
Ethanolaminosis
Cardiomegaly OMIM:227150
Angioedema, Hereditary, 6
Angioedema, Facial edema, Edema of the dorsum of hands OMIM:619363
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Fryns Microphthalmia Syndrome
Microphthalmia, Neural tube defect, Anophthalmia OMIM:600776
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Holoprosencephaly, Anophthalmia OMIM:611638
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect ORPHA:1296
Anencephaly 2
Anencephaly, Anophthalmia OMIM:619452
Meckel Syndrome, Type 8
Occipital encephalocele, Microphthalmia, Encephalocele, Anophthalmia, Pericardial effusion, Short... OMIM:613885
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Cataract ORPHA:2253
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Retinal detach... ORPHA:179
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy OMIM:300719
Bardet-Biedl Syndrome 18
Retinal dystrophy, Renal insufficiency, Cataract, Stage 5 chronic kidney disease, Rod-cone dystrophy OMIM:615995
Wagner Vitreoretinopathy
Optic atrophy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitreoretinopathy... OMIM:143200
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, 3-Methylglutaconic aciduria, Splenomegaly OMIM:619813
Oculocerebrocutaneous Syndrome
Microphthalmia, Orbital encephalocele, Anophthalmia OMIM:164180
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Cataract, Optic disc pallor OMIM:165300
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Morm Syndrome
Cataract, Retinal atrophy, Micropenis, Retinal dystrophy ORPHA:75858
Coats Disease
Abnormal anterior chamber morphology, Retinal detachment, Aplasia/Hypoplasia of the iris, Abnorma... ORPHA:190
Cone-Rod Dystrophy 16
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve... OMIM:614500
Galactosemia Iv
Cataract, Prolonged neonatal jaundice, Hepatomegaly OMIM:618881
Retinitis Pigmentosa 40
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613801
Peroxisome Biogenesis Disorder 8A (Zellweger)
Jaundice, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cataract, ... OMIM:614876
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular edema, Rod-cone dystrophy, Macular atr... OMIM:180104
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Peripheral vitreoretinal degeneration, Vitreous floaters, Lattice retinal deg... OMIM:614292
Galactosemia Ii
Cataract, Prolonged neonatal jaundice, Galactosuria OMIM:230200
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Attenuation of retinal blood vessels, C... OMIM:613731
Retinitis Pigmentosa 84
Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, ... OMIM:618220
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Senior-Loken Syndrome
Nephronophthisis, Retinal dystrophy, Abnormality of retinal pigmentation, Congenital hepatic fibr... ORPHA:3156
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, Retinopathy, Cataract ORPHA:90654
Hydrolethalus
Microphthalmia, Polyhydramnios, Anencephaly, Anophthalmia, Hydrocephalus ORPHA:2189
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Microphthalmia, Ventricular septal defect, Anophthalmia OMIM:615524
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Anophthalmia Plus Syndrome
Anophthalmia, Spina bifida ORPHA:1104
Leber Congenital Amaurosis 1
Hepatomegaly, Optic disc drusen, Keratoconus, Fundus atrophy, Attenuation of retinal blood vessel... OMIM:204000
Cataract 50 With Or Without Glaucoma
Retinal detachment, Persistent pupillary membrane, Cataract OMIM:620253
Verheij Syndrome
Optic nerve hypoplasia, Truncus arteriosus, Short stature, Growth delay, Intrauterine growth reta... OMIM:615583
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Retinopathy Of Prematurity
Vitreous hemorrhage, Cataract, Tractional retinal detachment, Abnormal retinal vascular morpholog... ORPHA:90050
Corneal Dystrophy, Groenouw Type I
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy OMIM:121900
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Concentric hypertrophic cardiomyopathy, Macular degeneration, Cataract, Retinal de... OMIM:204200
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Ectopic kidney, Optic disc pallor, Cataract, Ventricular septal defect, Cystic rena... OMIM:613730
Microphthalmia, Isolated 5
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Optic disc drusen, C... OMIM:611040
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Retinal dystrophy, Microcornea, Remnants of the hyaloid vascular system, Ch... ORPHA:231736
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia, Hydrocephalus, Growth delay, Holoprosencephaly, Patent ductus arter... ORPHA:77298
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Retinal dots, Corneal guttata, Optically empty vitreous, Cataract, Snowflake ... OMIM:193230
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Trisomy 13
Microphthalmia, Hydrops fetalis, Anophthalmia, Aplasia/Hypoplasia of the iris, Cystic hygroma, Pa... ORPHA:3378
Nephronophthisis 14
Situs inversus totalis, Polycystic kidney dysplasia, Retinal degeneration, Nephronophthisis OMIM:614844
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Asteroid hyalosis, Optic disc drusen, Cystoid macular ed... OMIM:600059
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Hematuria, Retinal detachment, Corneal opacity, Posterior embryotoxon, Chorioretin... ORPHA:1473
Attrv30M Amyloidosis
Vitreous floaters, Cardiomyopathy, Abnormal renal physiology, Cardiomegaly, Nephropathy ORPHA:85447
Cataract 21, Multiple Types
Retinal detachment, Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, ... OMIM:610202
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy, Abnormal renal physiology, Cataract, Retinal degeneration, Rod-cone... OMIM:266500
Trisomy 1Q
Hydrops fetalis, Polyhydramnios, Anophthalmia, Hydrocephalus, Increased nuchal translucency, Cyst... ORPHA:261344
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Leber Congenital Amaurosis 2
Keratoconus, Optic disc pallor, Fundus atrophy, Attenuation of retinal blood vessels, Cataract, A... OMIM:204100
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of retinal blood vessels,... OMIM:616108
Exudative Vitreoretinopathy 6
Posterior vitreous detachment, Retinal exudate, Patchy atrophy of the retinal pigment epithelium,... OMIM:616468
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Macular edema, Macular exudate, Chorioretinal atrophy, Vitreous floaters,... ORPHA:891
X-Linked Mandibulofacial Dysostosis
Webbed neck, Branchial anomaly, Short stature, Abnormal mitral valve morphology, Pulmonic stenosis ORPHA:1131
Anterior Segment Dysgenesis 8
Optic nerve dysplasia, Iris transillumination defect, Microphakia, Iridodonesis, Corneal stromal ... OMIM:617319
Congenital Toxoplasmosis
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Abnormality of r... ORPHA:858
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal dystrophy, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Chorioretin... OMIM:251270
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Persistent pupillary membrane, Abnormal heart morphology, Cataract, Aplasia/Hypo... ORPHA:1067
Leber Congenital Amaurosis 8
Macular coloboma, Keratoconus, Chorioretinal atrophy, Nummular pigmentation of the fundus, Chorio... OMIM:613835
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Splenomegaly, Cataract, Aminoaciduria ORPHA:79238
Branchiogenic-Deafness Syndrome
Short stature, Branchial fistula, Branchial cyst OMIM:609166
Mulibrey Nanism
Hepatomegaly, Astigmatism, Corneal dystrophy, Pericardial constriction, Myocardial fibrosis, Card... OMIM:253250
Long-Olsen-Distelmaier Syndrome
Cardiomegaly, Microspherophakia, Optic nerve hypoplasia, Elevated circulating alanine aminotransf... OMIM:620609
Neuraminidase Deficiency
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Urinary excretion of sialylated oligosaccharides, Pro... OMIM:256550
Vacterl With Hydrocephalus
Aqueductal stenosis, Microphthalmia, Polyhydramnios, Anophthalmia, Hydrocephalus, Spina bifida, I... ORPHA:3412
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Hypospadias, Hypertrophic cardiomyopathy, Cardiomegaly,... OMIM:620135
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Optic disc pallor OMIM:619170
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
3-Methylglutaconic Aciduria Type 4
Decreased liver function, 3-Methylglutaconic aciduria, Cardiomyopathy, Iris hypopigmentation, Cat... ORPHA:67048
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Familial Atrial Myxoma
Jaundice, Bacterial endocarditis, Cardiac myxoma, Cholestasis, Pulmonic valve myxoma, Cardiomegaly ORPHA:615
Exudative Vitreoretinopathy 1
Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Subcapsula... OMIM:133780
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Micropenis, Retinal dystrophy OMIM:610156
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Microphthalmia/Coloboma 12
Vesicoureteral reflux, Corneal opacity, Remnants of the hyaloid vascular system, Optic nerve apla... OMIM:120200
Lymphatic Malformation 8
Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune hydrops fetalis OMIM:618773
Persistent Hyperplastic Primary Vitreous
Microcornea, Corneal opacity, Persistent pupillary membrane, Remnants of the hyaloid vascular sys... ORPHA:91495
Cardiomyopathy, Familial Hypertrophic, 27
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Pterygium, Hypertrophic c... OMIM:618052
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypospadias, Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Tetralogy of Fallot, Cataract ORPHA:1381
Exfoliation Syndrome
Mydriasis, Phakodonesis, Pseudoexfoliation, Iris hypoperfusion, Anisocoria, Pigment deposition in... OMIM:177650
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy, Hypertrophic cardiomyopathy ORPHA:1369
Cataract 9, Multiple Types
Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma OMIM:604219
Stickler Syndrome, Type V
Retinal detachment, Vitreoretinopathy, Cataract OMIM:614284
Exudative Vitreoretinopathy 4
Posterior vitreous detachment, Retinal exudate, Subcapsular cataract, Tractional retinal detachme... OMIM:601813
Solitary Median Maxillary Central Incisor
Short stature, Microphthalmia, Holoprosencephaly, Anophthalmia OMIM:147250
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Hematuria, Chorioretinal coloboma, Iris coloboma OMIM:120433
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste... OMIM:600649
Retinitis Pigmentosa 2
Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy, Cataract, Rod-cone dystrophy,... OMIM:312600
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Lymphatic Malformation 14
Lymphedema OMIM:620602
Lymphatic Malformation 2
Lymphedema OMIM:611944
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Atrioventricular canal defect, Branchial anomaly, Pleural effusion, Increa... ORPHA:453499
Ectopia Lentis Et Pupillae
Iris transillumination defect, Retinal detachment, Persistent pupillary membrane, Ectopia lentis,... OMIM:225200
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Dicarboxylic aciduria, Microvesicular hepatic steatosis, Decreased carnitine level ... OMIM:212140
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Severe postnatal growth retardation, Branchial cyst ORPHA:435938
Amyloidosis, Finnish Type
Cardiac amyloidosis, Cardiomyopathy, Optic neuropathy, Lattice corneal dystrophy, Nephrotic syndr... OMIM:105120
Congenital Rubella Syndrome
Atrial septal defect, Jaundice, Hepatomegaly, Corneal opacity, Abnormality of retinal pigmentatio... ORPHA:290
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Galactose Mutarotase Deficiency
Cataract, Hepatomegaly, Cholestasis, Decreased liver function ORPHA:570422
Branchiogenic Deafness Syndrome
Short stature, Branchial fistula, Branchial cyst ORPHA:50815
Alpha-N-Acetylgalactosaminidase Deficiency
Cataract, Oligosacchariduria, Cardiomegaly ORPHA:3137
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal dystrophy, Retinal detachment, Corneal scarring, Chorioretinal coloboma, Cataract, Buphth... OMIM:212550
Microphthalmia, Syndromic 9
Bilateral microphthalmos, Anophthalmia, Hypoplastic left atrium, Truncus arteriosus, Pulmonic ste... OMIM:601186
Morning Glory Disc Anomaly
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Infantile Sialic Acid Storage Disease
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Cardiomegaly OMIM:269920
Holoprosencephaly
Microphthalmia, Encephalocele, Anophthalmia, Hydrocephalus, Branchial anomaly, Holoprosencephaly,... ORPHA:2162
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Iris coloboma, Microcornea, Corneal opacity, Retinal nonattachment, Persistent pupillary membrane... OMIM:221900
Aniridia 2
Optic atrophy, Aniridia, Cataract, Lens subluxation, Iris coloboma OMIM:617141
Stickler Syndrome Type 1
Retinal detachment, Abnormal vitreous humor morphology, Mitral valve prolapse, Cataract ORPHA:90653
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Hypertrophic cardiomyopathy OMIM:614096
Lymphatic Malformation 7
Pulmonary edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuchal translucenc... OMIM:617300
Hemochromatosis, Type 4
Cirrhosis, Hepatomegaly, Cardiomyopathy, Cataract, Hepatic steatosis OMIM:606069
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly, Elevated circulating hepatic transaminase concentration OMIM:619064
Infantile Spasms-Broad Thumbs Syndrome
Cataract, Hypertrophic cardiomyopathy, Optic disc pallor ORPHA:3173
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Peters anomaly OMIM:618652
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation ORPHA:171844
Meckel Syndrome
Situs inversus totalis, Microphthalmia, Anencephaly, Encephalocele, Anophthalmia, Hydrocephalus, ... ORPHA:564
Gyrate Atrophy Of Choroid And Retina
Chorioretinal hyperpigmentation, Chorioretinal degeneration, Chorioretinal atrophy, Subcapsular c... ORPHA:414
Combined Oxidative Phosphorylation Deficiency 10
Optic atrophy, Pericardial effusion, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:614702
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Autosomal Dominant Keratitis
Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ... ORPHA:2334
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea, Rod-cone dystrophy OMIM:619082
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Cataract, Abnormal heart valve morphology, Hypertrophic cardiomyopathy ORPHA:1345
Joubert Syndrome 9
Astigmatism, Retinal dystrophy, Hepatic fibrosis, Cataract, Stage 5 chronic kidney disease OMIM:612285
Fibular Hemimelia
Abnormal heart morphology, Anophthalmia, Spina bifida ORPHA:93323
Norrie Disease
Optic atrophy, Buphthalmos, Retinal dysplasia, Retinal detachment, Corneal opacity, Hypoplasia of... OMIM:310600
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Intermediate Uveitis
Cystoid macular edema, Optic neuritis, Vitreous floaters, Vitreous snowballs, Band keratopathy, V... ORPHA:279914
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon... ORPHA:860
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Short stature, Ho... ORPHA:1908
Sickle Cell Disease
Hepatomegaly, Jaundice, Hematuria, Cholelithiasis, Splenic infarction, Retinopathy, Splenomegaly,... OMIM:603903
Cockayne Syndrome Type 2
Intrauterine growth retardation, Delayed eruption of primary teeth, Anophthalmia ORPHA:90322
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Aniridia-Intellectual Disability Syndrome
Cataract, Optic nerve hypoplasia, Ectopia lentis, Aniridia ORPHA:1068
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Exercise-induced myoglobinuria, Dicarboxylic aciduria, Hepatomegaly, Periportal fibrosis, Hypertr... OMIM:201475
Weill-Marchesani Syndrome
Aortic valve stenosis, Pulmonic stenosis, Ectopia lentis, Cataract, Ventricular septal defect ORPHA:3449
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Ventricular hyp... OMIM:300280
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia OMIM:615113
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concentration, Cataract... OMIM:618805
Hsd10 Disease, Infantile Type
Optic atrophy, Hypertrophic cardiomyopathy, Cardiomegaly, Rod-cone dystrophy, Retinal degeneratio... ORPHA:391428
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Astigmatism, Renal insufficiency, Attenuation of retinal... OMIM:615986
Isolated Atp Synthase Deficiency
Optic atrophy, 3-Methylglutaconic aciduria, Hepatomegaly, Hypertrophic cardiomyopathy, Renal hypo... ORPHA:254913
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Splenomegaly, Cardiomegaly, Heparan sulfate excretio... OMIM:252920
Carnitine Palmitoyltransferase I Deficiency
Dicarboxylic aciduria, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Ren... OMIM:255120
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular ... OMIM:235200
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Tricuspid valve prolapse, Aniridia, Anophthalmia, Umbilical hernia ORPHA:1101
Combined Oxidative Phosphorylation Deficiency 33
Astigmatism, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Cardiomyopath... OMIM:617713
Walker-Warburg Syndrome
Hydrocephalus, Microphthalmia, Anophthalmia ORPHA:899
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Dicarboxylic aciduria, Elevated circulating hepatic transaminase concen... ORPHA:42
Infantile Refsum Disease
Optic atrophy, Hepatomegaly, Cardiomyopathy, Cataract, Rod-cone dystrophy ORPHA:772
Cataract 47
Cataract, Glycosuria, Microcornea OMIM:612018
Papillorenal Syndrome
Stage 5 chronic kidney disease, Macular degeneration, Chorioretinal atrophy, Lens luxation, Nephr... OMIM:120330
Pierson Syndrome
Posterior lenticonus, Hypoplasia of the ciliary body, Retinal detachment, Remnants of the hyaloid... OMIM:609049
Cerebrooculonasal Syndrome
Postnatal growth retardation, Encephalocele, Anophthalmia, Hydrocephalus, Optic nerve hypoplasia OMIM:605627
Microphthalmia With Limb Anomalies
Growth delay, Microphthalmia, Postnatal growth retardation, Anophthalmia OMIM:206920
Coloboma, Ocular, Autosomal Recessive
Retinal coloboma, Optic disc coloboma, Cataract, Lens subluxation, Iris coloboma OMIM:216820
Oculoauricular Syndrome
Microphakia, Ocular anterior segment dysgenesis, Posterior synechiae of the anterior chamber, Ret... OMIM:612109
Fucosidosis
Abnormality of the gallbladder, Hepatomegaly, Corneal opacity, Mucopolysacchariduria, Cardiomegaly ORPHA:349
Charge Syndrome
Postnatal growth retardation, Aqueductal stenosis, Delayed puberty, Abnormal aortic valve morphol... ORPHA:138
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Vitreous floaters, Chorioretinal scar, Iris atrophy, Heteroc... ORPHA:263479
Oligomeganephronia
Secundum atrial septal defect, Dehydration, Branchial cyst ORPHA:2260
Peroxisome Biogenesis Disorder 2A (Zellweger)
Optic nerve dysplasia, Jaundice, Hepatomegaly, Polycystic kidney dysplasia, Intrahepatic biliary ... OMIM:214110
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Branchial anomaly, Optic nerve hypoplasia, Increased nuchal translucency, Growth delay, Abnormal ... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Branchial anomaly, Optic nerve hypoplasia, Increased nuchal translucency, Growth delay, Abnormal ... ORPHA:352665
Cardiomyopathy, Dilated, 1Ii
Cataract, Dilated cardiomyopathy OMIM:615184
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Rod-cone dystrophy, Retinal coloboma OMIM:601794
Bor Syndrome
Branchial cyst ORPHA:107
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Elevated circulating hepatic transaminase concentration, M... OMIM:608836
Branchiootorenal Syndrome 1
Branchial fistula, Branchial cyst OMIM:113650
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Optic atrophy, 3-Methylglutaconic aciduria, Increased hepatic glycogen content, Cardiomyopathy, C... OMIM:619259
Distal 22Q11.2 Microdeletion Syndrome
Truncus arteriosus, Short stature, Growth delay, Intrauterine growth retardation, Atrial septal d... ORPHA:261330
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic valve calcificati... OMIM:231005
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Polyhydramnios, Chylothorax, Lymphedema, Pleural effusion, Ascites, Chylous asci... OMIM:265300
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular septal hypertrophy, Hepatomegaly, Muscular ventricular septal defect, Ventricular hyp... OMIM:115197
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Rod-cone dystrophy, Retinal coloboma ORPHA:363741
Juvenile Sialidosis Type 2
Optic atrophy, Hepatomegaly, Corneal opacity, Visceromegaly, Abnormal heart morphology, Hepatospl... ORPHA:93399
Galactosemia I
Decreased liver function, Cirrhosis, Hepatomegaly, Galactosuria, Elevated circulating alanine ami... OMIM:230400
Congenital Sialidosis Type 2
Optic atrophy, Hepatomegaly, Yellow/white lesions of the retina, Corneal opacity, Abnormal heart ... ORPHA:93400
Isolated Posterior Meningocele
Neural tube defect, Hydromyelia, Meningocele, Hydrocephalus, Lipomyelomeningocele, Occipital meni... ORPHA:268810
Cerebrooculonasal Syndrome
Anophthalmia ORPHA:66625
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatomegaly, ... OMIM:614921
Distal 22Q11.2 Microduplication Syndrome
Tricuspid valve prolapse, Palpebral edema, Webbed neck, Hydrocephalus, Low posterior hairline, Pa... ORPHA:261337
Isolated Aniridia
Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly, Aniridia ORPHA:250923
Transketolase Deficiency
Hepatomegaly, Increased level of ribose in urine, Patent foramen ovale, Renal cyst, Abnormal hear... ORPHA:488618
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Matthew-Wood Syndrome
Intrauterine growth retardation, Microphthalmia, Anophthalmia ORPHA:2470
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Ciliary Dyskinesia, Primary, 53
Abdominal situs inversus, Situs inversus totalis, Perimembranous ventricular septal defect, Paten... OMIM:620642
Cirrhotic Cardiomyopathy
Left atrial enlargement, Cirrhosis, Jaundice, Hepatomegaly, Conjunctival icterus, Right atrial en... ORPHA:57777
Wolfram Syndrome 1
Optic atrophy, Hydroureter, Neurogenic bladder, Cardiomyopathy, Hydronephrosis, Cataract, Pigment... OMIM:222300
Fixed Subaortic Stenosis
Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ... ORPHA:3092
Congenital Primary Aphakia
Developmental glaucoma, Aniridia, Retinal dysplasia, Aplasia/Hypoplasia affecting the anterior se... ORPHA:83461
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Biliary atresia, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transp... OMIM:306955
Holoprosencephaly 9
Microphthalmia, Alobar holoprosencephaly, Hydrocephalus, Optic nerve hypoplasia, Anophthalmia, Sh... OMIM:610829
Knobloch Syndrome
Abnormal vitreous humor morphology, Dextrocardia, Retinal detachment, Macular degeneration, Vitre... ORPHA:1571
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Cardiomegaly, Ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:619051
Joubert Syndrome 21
Occipital encephalocele, Encephalocele, Anophthalmia OMIM:615636
Enhanced S-Cone Syndrome
Vitreoretinopathy, Retinoschisis, Cataract, Macular edema, Pigmentary retinopathy OMIM:268100
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal tubular epithelial necrosis, Dicarboxylic aciduria, Hepatomegaly, Myoglobinuria, Polycystic... ORPHA:228308
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Glomerulonephritis ORPHA:99931
Microphthalmia, Syndromic 5
Short stature, Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:610125
8Q24.3 Microdeletion Syndrome
Bilateral microphthalmos, Atrioventricular canal defect, Spina bifida occulta, Optic nerve hypopl... ORPHA:508488
Microphthalmia, Syndromic 2
Microphthalmia, Dextrocardia, Patent ductus arteriosus, Delayed eruption of teeth, Anophthalmia, ... OMIM:300166
Microphthalmia, Syndromic 3
Postnatal growth retardation, Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Short stature... OMIM:206900
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic atrophy, Bone spicule pigmentation of the retina, Glycosuria, Cataract, Stage 5 chronic kid... OMIM:268315
Aniridia 1
Corneal neovascularization, Aniridia, Corneal erosion, Optic nerve hypoplasia, Cataract, Hypoplas... OMIM:106210
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia ORPHA:139471
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Nephrocalcinosis, Right atrial enlargement OMIM:614473
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glo... OMIM:165550
Alg3-Cdg
Cardiomyopathy, Neural tube defect ORPHA:79321
Alagille Syndrome 1
Elevated circulating hepatic transaminase concentration, Cholestasis, Prolonged neonatal jaundice... OMIM:118450
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... OMIM:269400
Attrv122I Amyloidosis
Cardiac amyloidosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Aortic valve stenos... ORPHA:85451
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Anophthalmia, Chylothorax, Lymphedema, Pleural effusion, Severe short stature, Ed... ORPHA:2526
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Microphthalmia, Polyhydramnios, Patent foramen ovale, Short stature, Natal tooth, Right ventricul... OMIM:620186
Cockayne Syndrome Type 1
Postnatal growth retardation, Delayed eruption of primary teeth, Anophthalmia ORPHA:90321
Sandhoff Disease
Urinary incontinence, Hepatomegaly, Increased urinary N-acetylglucosamine-rich oligosaccharide le... OMIM:268800
Microphthalmia With Linear Skin Defects Syndrome
Tricuspid valve prolapse, Microphthalmia, Anophthalmia, Hydrocephalus, Hypertrophic cardiomyopath... ORPHA:2556
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Hypertrophic cardiomyopathy, Hydronephrosis, Cardiomegaly, Ventricular septal defect... OMIM:616897
Chromosome 16Q12 Duplication Syndrome
Central thinning of the outer nuclear layer of the retina, Temporal optic disc pallor, Anisocoria... OMIM:619649
Charge Syndrome
Postnatal growth retardation, Delayed puberty, Microphthalmia, Polyhydramnios, Patent ductus arte... OMIM:214800
Treacher-Collins Syndrome
Microphthalmia, Branchial fistula, Encephalocele, Patent ductus arteriosus ORPHA:861
Coronary Arterial Fistula
Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st... ORPHA:2041
Fraser Syndrome 1
Bilateral microphthalmos, Encephalocele, Anophthalmia, Hydrocephalus, Myelomeningocele, Abnormal ... OMIM:219000
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Cataract, Ro... OMIM:300578
Symptomatic Form Of Hfe-Related Hemochromatosis
Cirrhosis, Hepatomegaly, Hepatocellular carcinoma, Chronic hepatic failure, Cardiomyopathy, Porta... ORPHA:465508
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Anophthalmia, Congenital muscular torticollis, Truncus arteriosus, Growth delay, ... ORPHA:2538
Timothy Syndrome
Cardiomegaly, Patent foramen ovale, Ventricular septal defect, Tetralogy of Fallot OMIM:601005
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle OMIM:239850
Idiopathic Panuveitis
Choroidal neovascularization, Cystoid macular edema, Vitreous floaters, Vitreous snowballs, Conju... ORPHA:280921
Craniorachischisis
Sirenomelia, Anencephaly, Myelomeningocele, Spinal dysraphism, Cervical spina bifida ORPHA:63260
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,... ORPHA:439
Aorta Coarctation
Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m... ORPHA:1457
Mucopolysaccharidosis Type 3
Optic atrophy, Hepatomegaly, Abnormal aortic valve morphology, Cardiomegaly, Heparan sulfate excr... ORPHA:581
Anterior Segment Dysgenesis 2
Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle... OMIM:610256
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Glycogen Storage Disease Of Heart, Lethal Congenital
Enlarged kidney, Cardiomegaly, Cardiomyopathy, Hypertrophic cardiomyopathy, Pericardial effusion,... OMIM:261740
Bardet-Biedl Syndrome 1
Bone spicule pigmentation of the retina, Astigmatism, Retinal dystrophy, Hyperautofluorescent mac... OMIM:209900
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Abnormal atrioventricular valve morphology, Cardiomegaly, Mitral valve pro... ORPHA:324410
Pseudo-Torch Syndrome 3
Cardiomegaly, Acute kidney injury, Proteinuria OMIM:618886
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Focal Dermal Hypoplasia
Microphthalmia, Aniridia, Spina bifida occulta, Delayed eruption of teeth, Hydrocephalus, Anophth... OMIM:305600
Histiocytoid Cardiomyopathy
Optic atrophy, Hepatomegaly, Corneal opacity, Congenital aphakia, Renal cyst, Megalocornea, Cardi... ORPHA:137675
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Remnants of the hyaloid vascular s... OMIM:614643
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Proboscis Lateralis
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Holoprosencephaly, Patent ductus arteriosus... ORPHA:141099
Alport Syndrome 2, Autosomal Recessive
Hematuria, Corneal erosion, Renal insufficiency, Nephrotic syndrome, Nephritis, Proteinuria, Cata... OMIM:203780
Histiocytosis-Lymphadenopathy Plus Syndrome
Corneal arcus, Hepatomegaly, Pancreatic hypoplasia, Pulmonic stenosis, Hepatosplenomegaly, Spleno... OMIM:602782
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria ORPHA:2714
Abetalipoproteinemia
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Corneal ulcerat... ORPHA:14
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Urinary incontinence, Cardiomyopathy, Amyloid deposition in the vitreous humor OMIM:105210
Mogs-Cdg
Optic atrophy, Hepatomegaly, Hepatosplenomegaly, Left ventricular hypertrophy, Cardiomegaly, Atri... ORPHA:79330
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypertrophic cardiomyo... ORPHA:308552
Cockayne Syndrome Type 3
Elevated circulating hepatic transaminase concentration, Retinal atrophy, Cardiomyopathy, Splenom... ORPHA:90324
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Stromme Syndrome
Accessory spleen, Optic nerve hypoplasia, Microcornea, Hydronephrosis, Sclerocornea, Bilateral re... OMIM:243605
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Rhizomelia, Anophthalmia OMIM:615877
Iniencephaly
Polyhydramnios, Rhizomelia, Anencephaly, Encephalocele, Hydrocephalus, Myelomeningocele, Spina bi... ORPHA:63259
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Fraser Syndrome
Microphthalmia, Encephalocele, Anophthalmia, Myelomeningocele, Umbilical hernia ORPHA:2052
Complete Atrioventricular Septal Defect
Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul... ORPHA:1329
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Histiocytoid cardiomyopathy, Ventricular septal defect, Chordee, Sclerocornea, Catar... OMIM:309801
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Craniofacial Microsomia 1
Occipital encephalocele, Microphthalmia, Anophthalmia, Hydrocephalus, Branchial anomaly, Tetralog... OMIM:164210
Branchiooculofacial Syndrome
Postnatal growth retardation, Microphthalmia, Anophthalmia, Branchial anomaly, Low posterior hair... OMIM:113620
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Failure of eruption of permanent teeth, Anophthalmia ORPHA:2250
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Cardiomegaly, Renal cortical cysts, Vesicoureteral reflux, Cardiom... OMIM:130650
Sympathetic Ophthalmia
Retinal detachment, Vitreous floaters, Depigmented fundus, Retinal hemorrhage, Anterior chamber c... ORPHA:79098
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart valve morphology, Aortic valve stenosis, Pericardial effusion, Bicus... ORPHA:363705
Atelis Syndrome 2
Supravalvar pulmonary stenosis, Remnants of the hyaloid vascular system, Pulmonic stenosis, Devel... OMIM:620185
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Fucosidosis
Hepatomegaly, Glycopeptiduria, Splenomegaly, Cherry red spot of the macula, Cardiomegaly, Oligosa... OMIM:230000
14Q22Q23 Microdeletion Syndrome
Short stature, Optic nerve aplasia, Anophthalmia ORPHA:264200
Sacral Defect With Anterior Meningocele
Myeloschisis, Hydromyelia, Meningocele, Hydrocephalus, Dermal sinus tract, Myelomeningocele OMIM:600145
Danon Disease
Myocardial necrosis, Hypertrophic cardiomyopathy, Myocardial fibrosis, Cardiomegaly, Dilated card... OMIM:300257
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy, Renal artery stenosis OMIM:208000
Bohring-Opitz Syndrome
Optic atrophy, Annular pancreas, Cholelithiasis, Retinal atrophy, Cardiomegaly, Urinary retention... ORPHA:97297
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Pancreatitis, Retinal arterial tortuosity, Cardiomegaly, Splenic cyst, Retinal detachment, Patent... OMIM:620371
Microphthalmia With Limb Anomalies
Hydrocephalus, Microphthalmia, True anophthalmia, Short stature ORPHA:1106
Double Outlet Left Ventricle
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv... ORPHA:3427
Cataract 5, Multiple Types
Anterior polar cataract, Zonular cataract, Lamellar cataract, Nuclear cataract, Pulverulent cataract OMIM:116800
Phace Syndrome
Retinal vascular malformation, Abnormal cardiac septum morphology, Optic nerve hypoplasia, Hetero... ORPHA:42775
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatic failure OMIM:608013
Naxos Disease
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h... OMIM:601214
Witteveen-Kolk Syndrome
Microphthalmia, Polyhydramnios, Short stature, Growth delay, Intrauterine growth retardation, Bra... OMIM:613406
Neurodegeneration And Seizures Due To Copper Transport Defect
Glandular hypospadias, Cardiomegaly OMIM:620306
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Pollakisuria, Right ventricular hypertrophy ORPHA:268
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Developmental glaucoma, Patent foramen ovale, Mitral valve prolapse, Left ... OMIM:245600
Glycogen Storage Disease Ii
Cardiomegaly, Urinary incontinence, Splenomegaly, Hepatomegaly OMIM:232300
Hyperferritinemia With Or Without Cataract
Anterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Cataract OMIM:600886
Mucolipidosis Ii Alpha/Beta
Enlarged kidney, Hepatomegaly, Megalocornea, Hypertrophic cardiomyopathy, Mucopolysacchariduria, ... OMIM:252500
Cantú Syndrome
Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy ORPHA:1517
Norrie Disease
Optic atrophy, Abnormal chorioretinal morphology, Abnormal vitreous humor morphology, Aplasia/Hyp... ORPHA:649
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Overriding aorta, Ventricular septal defect OMIM:617022
Liver Disease, Severe Congenital
Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Biliary hyperpl... OMIM:619991
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Atrial septal dilatation, Abnormality of the hepatic vasculature, Right atrial enla... ORPHA:1677
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort... OMIM:620066
Autoinflammatory Disease, Systemic, With Vasculitis
Jaundice, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration,... OMIM:620376
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly, Opacification of the corneal stroma ORPHA:79280
Developmental And Epileptic Encephalopathy 95
Cardiomegaly, Hepatomegaly OMIM:618143
Beckwith-Wiedemann Syndrome
Enlarged kidney, Ureteral duplication, Hepatomegaly, Abnormal pancreas morphology, Congenital meg... ORPHA:116
Full Nf2-Related Schwannomatosis
Retinal hamartoma, Posterior subcapsular cataract, Abnormal optic nerve morphology, Remnants of t... ORPHA:637
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Microvesicular hepatic steatosis, Ventricular hypertrophy, Hepatocellular necrosis,... OMIM:618278
Interatrial Communication
Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a... ORPHA:1478
Williams Syndrome
Hypoplasia of penis, Corneal opacity, Pulmonic stenosis, Nephrocalcinosis, Multiple renal cysts, ... ORPHA:904
Neuroocular Syndrome
Microcornea, Stellate iris, Patent foramen ovale, Remnants of the hyaloid vascular system, Hypopl... OMIM:619539
Generalized Arterial Calcification Of Infancy
Angioid streaks of the fundus, Choroidal neovascularization, Ventricular hypertrophy, Medullary n... ORPHA:51608
Congenital Tracheomalacia
Abnormal heart morphology, Tetralogy of Fallot, Partial anomalous pulmonary venous return, Cardio... ORPHA:95430
Ogden Syndrome
Left atrial enlargement, Enlarged kidney, Jaundice, Macrovesicular hepatic steatosis, Perimembran... OMIM:300855
Absence Of The Pulmonary Artery
Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom... ORPHA:980
Proximal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Bicarbonaturia, Global proximal tubulopathy, Hypercalciuria, Ba... ORPHA:47159
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Aicardi-Goutières Syndrome
Developmental glaucoma, Elevated circulating hepatic transaminase concentration, Hypertrophic car... ORPHA:51
Truncus Arteriosus
Transposition of the great arteries, Abnormal heart valve morphology, Truncus arteriosus, Pulmoni... ORPHA:3384
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Abnormality iris morphology, Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypertrophic cardiomyo... ORPHA:365
Paternal Uniparental Disomy Of Chromosome 6
Cardiomegaly, Hepatomegaly, Ventricular septal defect ORPHA:96191
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o... ORPHA:99125
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Patent foramen ovale, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, R... OMIM:300967
Yunis-Varon Syndrome
Hypospadias, Cardiomegaly, Renal artery stenosis, Cardiomyopathy, Renovascular hypertension, Scle... ORPHA:3472
Semilobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Short stature, Growth delay, Abnormal heart morphology ORPHA:220386
Alobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Short stature, Growth delay, Abnormal heart morphology ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Neural tube defect, Hydrocephalus, Short stature, Growth delay, Abnormal heart morphology ORPHA:93926
Lobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Short stature, Growth delay, Abnormal heart morphology ORPHA:93924
Microphthalmia, Syndromic 6
Microphthalmia, Anophthalmia OMIM:607932
Schinzel-Giedion Syndrome
Neural tube defect, Delayed eruption of teeth, Abnormal heart morphology, Umbilical hernia, Short... ORPHA:798
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Punctate opacification of ... OMIM:256040
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Endocardial fibrosis, Hepatomegaly, Right ventricular cardiomyopathy, Re... ORPHA:75565
Holoprosencephaly 2
Single ventricle, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Iris coloboma OMIM:157170
Microphthalmia, Syndromic 1
Microphthalmia, Webbed neck, Anophthalmia, Growth delay, Bicuspid aortic valve OMIM:309800
Acromelic Frontonasal Dysostosis
Optic nerve hypoplasia, Remnants of the hyaloid vascular system OMIM:603671
Singleton-Merten Syndrome 1
Mitral valve calcification, Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Subv... 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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