Gene Summary

Name:
extended synaptotagmin-like protein 1
Synonyms:
vp115,  Mbc2,  Fam62a

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal tooth morphology Esyt1em1(IMPC)Hmgu HOM Early adult 1.21×10-14
abnormal gait Esyt1em1(IMPC)Hmgu HOM Early adult 2.68×10-09
sclerocornea Esyt1em1(IMPC)Hmgu HOM Early adult 3.29×10-05
abnormal iris transillumination Esyt1em1(IMPC)Hmgu HOM Early adult 2.85×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Esyt1 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 Esyt1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Band keratopathy, Corneal dystrophy OMIM:300779
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Sclerocornea, Autosomal Dominant
Sclerocornea OMIM:181700
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Progressive cerebellar ataxia, Corneal dystrophy, Ataxia ORPHA:3177
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Anterior Segment Dysgenesis 5
Posterior embryotoxon, Microcornea, Peters anomaly, Rieger anomaly, Hypoplasia of the iris, Devel... OMIM:604229
Anterior Segment Dysgenesis 7
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Sclerocornea OMIM:269400
Brittle Cornea Syndrome 2
Flat cornea, Megalocornea, Gait disturbance, Keratoconus, Keratoglobus, Sclerocornea, Decreased c... OMIM:614170
Dermoids Of Cornea
Corneal opacity OMIM:304730
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Congenital Primary Aphakia
Congenital aphakia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye ORPHA:83461
Anterior Segment Dysgenesis 2
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... OMIM:610256
Pupillary Membrane, Persistence Of
Megalocornea, Developmental cataract, Persistent pupillary membrane OMIM:178900
Regional Odontodysplasia
Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D... ORPHA:83450
Rutherfurd Syndrome
Delayed eruption of primary teeth, Opacification of the corneal stroma, Corneal dystrophy, Failur... OMIM:180900
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Mucous Membrane Pemphigoid
Gingivitis, Corneal opacity, Oral mucosal blisters ORPHA:46486
Microphthalmia, Isolated 3
Sclerocornea OMIM:611038
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Ataxia, Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Cari... OMIM:204700
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Microphthalmia, Isolated, With Coloboma 9
Long philtrum, Microcornea, Iris coloboma, Ocular anterior segment dysgenesis, Sclerocornea OMIM:615145
Amelogenesis Imperfecta
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... ORPHA:88661
Amelogenesis Imperfecta, Type Ij
Carious teeth, Enamel hypoplasia, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta OMIM:617297
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth OMIM:615887
Rodrigues Blindness
Microcornea, Sclerocornea, Tooth malposition OMIM:268320
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Dentin Dysplasia, Type I
Taurodontia, Dentinogenesis imperfecta limited to primary teeth, Microdontia, Pulp obliteration, ... OMIM:125400
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Enamel hypomineralization, Amelogenesis imperfecta, Hypomature dental enamel OMIM:613211
Microphthalmia With Brain And Digit Anomalies
High palate, Microcornea, Iris coloboma, Cataract, Sclerocornea, Chorioretinal coloboma ORPHA:139471
Corneal Degeneration, Ribbonlike, With Deafness
Band keratopathy, Ribbonlike corneal degeneration OMIM:121450
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Corneal opacity, Median cleft palate, Microcornea ORPHA:2432
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
High palate, Microspherophakia, Megalocornea, Iridodonesis, Deep anterior chamber, Ectopia lentis OMIM:251750
Ectodermal Dysplasia-Blindness Syndrome
Abnormality of the dentition, Microcornea, Cataract, Corneal dystrophy, Keratoconjunctivitis sicc... ORPHA:1806
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Central corneal dystrophy, Recurrent corneal erosions, Opacifica... ORPHA:98960
Morquio Syndrome C
Corneal opacity OMIM:252300
Taurodontism, Microdontia, And Dens Invaginatus
Dens in dente, Taurodontia, Microdontia, Pulp calcification OMIM:313490
8Q21.11 Microdeletion Syndrome
High palate, Corneal opacity, Narrow mouth, Abnormality of the dentition, Short philtrum, Microgn... ORPHA:284160
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Recurrent corneal erosions, Corneal dystrophy OMIM:217800
3Q29 Microduplication Syndrome
High palate, Cleft palate, Abnormality of the dentition, Deep philtrum, Iris coloboma, Cataract, ... ORPHA:251038
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Ectopia pupillae, Corneal opacity OMIM:608484
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... OMIM:309300
Oculoauricular Syndrome
Microphakia, Short mandibular rami, Chorioretinal atrophy, Posterior embryotoxon, Microcornea, Ir... OMIM:612109
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dental enamel morphology OMIM:612529
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Hypoplasia of the iris, Cataract, Iris transillum... OMIM:617319
Otodental Syndrome
Abnormal dental enamel morphology, Gingival overgrowth, Taurodontia, Periodontitis, Agenesis of p... ORPHA:2791
Lattice Corneal Dystrophy Type I
Corneal scarring, Abnormal cornea morphology, Corneal opacity, Subepithelial corneal opacities, C... ORPHA:98964
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Amelogenesis Imperfecta, Type Iiib
Enamel hypomineralization, Amelogenesis imperfecta OMIM:617607
Galactosialidosis
Corneal opacity ORPHA:351
Dentinogenesis Imperfecta, Shields Type Iii
Dentinogenesis imperfecta, Anterior open-bite malocclusion, Dental enamel pits, Odontodysplasia, ... OMIM:125500
Gorlin-Chaudhry-Moss Syndrome
Abnormality of the dentition, Oligodontia, Astigmatism, Hypoplasia of the maxilla, Sclerocornea ORPHA:2095
Oligodontia
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... ORPHA:99798
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, Microdontia OMIM:301200
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of molar, Abnormality of the dentition, Shovel-shaped maxillary central incisors OMIM:114700
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Amelogenesis Imperfecta, Type Iiia
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion OMIM:130900
Anterior Segment Dysgenesis 3
Hypoplastic iris stroma, Abnormal iris vasculature, Ectopia pupillae, Axenfeld anomaly, Posterior... OMIM:601631
Corneal Dystrophy, Posterior Polymorphous, 1
Corneal opacity, Band keratopathy, Thinning of Descemet membrane, Abnormal Descemet membrane morp... OMIM:122000
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract, Persistent pupillary membrane ORPHA:1067
Winchester Syndrome
Gingival overgrowth, Corneal opacity OMIM:277950
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Amelogenesis Imperfecta, Type Ic
Taurodontia, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown discolorati... OMIM:204650
Mietens Syndrome
Corneal opacity, Cataract, Microcornea, Sclerocornea ORPHA:2557
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Corneal neovascularization, Developmental... OMIM:617315
Amelogenesis Imperfecta, Type Ih
Anterior open-bite malocclusion, Enamel hypoplasia, Yellow-brown discoloration of the teeth, Dent... OMIM:616221
Al-Gazali Syndrome
Micrognathia, Corneal opacity, Sclerocornea OMIM:609465
Dental Ankylosis
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology ORPHA:1077
Stickler Syndrome Type 2
Corneal opacity, Cataract, Cleft palate ORPHA:90654
Stromme Syndrome
Wide mouth, Cleft palate, Micrognathia, Microcornea, Peters anomaly, Iris coloboma, Cataract, Scl... OMIM:243605
Corneal Dystrophy, Reis-Bucklers Type
Corneal opacity, Opacification of the corneal stroma, Corneal erosion, Corneal dystrophy OMIM:608470
Corneal Endothelial Dystrophy
Increased corneal thickness, Opacification of the corneal stroma, Corneal dystrophy, Abnormal Des... OMIM:217700
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Posterior embryotoxon, Bilateral cleft lip and palate, Iris coloboma, Cataract, ... ORPHA:1473
Chromosome 8Q21.11 Deletion Syndrome
High palate, Cleft palate, Micrognathia, Short philtrum, Downturned corners of mouth, Cataract, E... OMIM:614230
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Hypocalcification of dental enamel, Yellow-brown discoloration of the te... OMIM:618386
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Ectopia pupillae, Long philtrum, Microcornea, Cataract, Sclerocornea OMIM:615877
Amelogenesis Imperfecta, Type Ia
Taurodontia, Amelogenesis imperfecta, Generalized microdontia OMIM:104530
Anterior Segment Dysgenesis 4
Iris hypopigmentation, Hypoplastic iris stroma, Abnormality of the dentition OMIM:137600
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta OMIM:614832
X-Linked Endothelial Corneal Dystrophy
Corneal opacity, Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology ORPHA:293621
Dentinogenesis Imperfecta
Persistence of primary teeth, Fragile teeth, Generalized hypoplasia of dental enamel, Grayish ena... ORPHA:49042
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Abnormal cornea morphology, Corneal astigmatism, Conjunctival de... OMIM:180550
Otodental Dysplasia
Taurodontia, Agenesis of premolar, Long philtrum, Delayed eruption of teeth, Pulp calcification, ... OMIM:166750
Peters Anomaly
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... ORPHA:708
Amelogenesis Imperfecta, Type If
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Abnormality of dental color OMIM:616270
Heterochromia Iridis
Asymmetry of iris pigmentation, Heterochromia iridis OMIM:142500
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Iris coloboma, Sclerocornea ORPHA:77298
Florid Cemento-Osseous Dysplasia
Dental malocclusion, Abnormal number of teeth, Mandibular osteomyelitis, Abnormal cementum morpho... ORPHA:83451
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Central opacification of the cornea, Opacification of the cornea... ORPHA:98963
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal stromal edema, Descemet Membrane Folds, Corneal degeneration, Corneal dystrophy, Corneal ... OMIM:136800
Gómez-López-Hernández Syndrome
Thin vermilion border, Corneal opacity, Ataxia ORPHA:1532
Amelogenesis Imperfecta, Type Iv
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Taurodontia, Amelogenesis imperfecta OMIM:104510
Encephalocraniocutaneous Lipomatosis
Abnormal anterior chamber morphology, Hypoplasia of the iris, Limbal dermoid, Sclerocornea OMIM:613001
Congenital Hereditary Endothelial Dystrophy Type Ii
Corneal opacity, Irregular astigmatism, Corneal stromal edema, Abnormal Descemet membrane morphol... ORPHA:293603
Dentin Dysplasia, Type Ii
Abnormal dentin morphology, Dentinogenesis imperfecta limited to primary teeth, Pulp calcification OMIM:125420
Microphthalmia, Isolated, With Coloboma 10
Iris coloboma, Microcoria, Chorioretinal coloboma OMIM:616428
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Cataract OMIM:610092
Weill-Marchesani Syndrome 4
Phakodonesis, Iridodonesis, Ectopia lentis OMIM:613195
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Iridocorneal Endothelial Syndrome
Hypoplastic iris stroma, Polycoria, Corneal stromal edema, Ectopia pupillae, Iris nevus, Uveal ec... ORPHA:64734
Amoebic Keratitis
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... ORPHA:67043
Cataract 21, Multiple Types
Cortical pulverulent cataract, Iris coloboma, Cerulean cataract, Microcornea OMIM:610202
Bilateral Acute Depigmentation Of The Iris
Hypoplastic iris stroma, Iris pigment dispersion, Abnormal anterior chamber morphology, Pigment d... ORPHA:69736
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Keratoendotheliitis Fugax Hereditaria
Keratitis, Opacification of the corneal stroma, Conjunctival hyperemia OMIM:148200
Posterior Polymorphous Corneal Dystrophy
Corneal opacity, Abnormal Descemet membrane morphology, Corneal stromal edema, Ectopia pupillae, ... ORPHA:98973
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Central opacification of the cornea, Central corneal dystrophy, ... ORPHA:98962
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Macular Corneal Dystrophy
Punctate opacification of the cornea, Opacification of the corneal stroma, Recurrent corneal eros... ORPHA:98969
Van Den Ende-Gupta Syndrome
High palate, Narrow mouth, High, narrow palate, Cleft palate, Everted lower lip vermilion, Malar ... OMIM:600920
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
Subcapsular cataract, Enamel hypoplasia, Increased overbite, Shovel-shaped maxillary central inci... OMIM:600907
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Thin vermilion border, Corneal opacity, Narrow mouth ORPHA:2370
Exfoliation Syndrome
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... OMIM:177650
Limbal Stem Cell Deficiency
Keratitis, Corneal scarring, Generalized opacification of the cornea, Corneal perforation, Cornea... ORPHA:171673
Anterior Segment Dysgenesis 1
Posterior polar cataract, Opacification of the corneal stroma, Microcornea, Peters anomaly, Ocula... OMIM:107250
Autosomal Dominant Keratitis
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... ORPHA:2334
Short Syndrome
Corneal opacity, Abnormal pupil morphology, Malar flattening, Abnormal anterior chamber morpholog... ORPHA:3163
Fused Mandibular Incisors
Abnormality of the dentition, Advanced eruption of teeth ORPHA:2287
2Q24 Microdeletion Syndrome
Cleft palate, Short philtrum, Cataract, Abnormal oral frenulum morphology, Abnormality iris morph... ORPHA:1617
Wolf-Hirschhorn Syndrome
Cleft upper lip, Ataxia, Hypodontia, Cleft palate, Micrognathia, Short philtrum, Megalocornea, Do... ORPHA:280
Failure Of Tooth Eruption, Primary
Persistence of primary teeth, Hypodontia, Failure of eruption of permanent teeth OMIM:125350
Fuchs Endothelial Corneal Dystrophy
Corneal opacity, Reduced number of corneal endothelial cells, Abnormal corneal endothelium morpho... ORPHA:98974
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Harel-Yoon Syndrome
Corneal opacity, Ataxia, Inability to walk, Micrognathia, Developmental cataract, Mandibular prog... OMIM:617183
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Corneal opacity, Myopic astigmatism, Long philtrum, Microcornea, Astigmatism, Deep philtrum, Cata... OMIM:152950
Alpha-Mannosidosis
Dental malocclusion, Corneal opacity, Gingival overgrowth, Narrow palate, Macroglossia, Open bite... ORPHA:61
Smith-Lemli-Opitz Syndrome
Abnormal dental enamel morphology, Wide mouth, Gingival overgrowth, Tooth agenesis, Supernumerary... ORPHA:818
Mucolipidosis Type Iii
Corneal opacity, Craniofacial hyperostosis, Cleft palate ORPHA:577
Meckel Syndrome
Aplasia/Hypoplasia of the tongue, Cleft palate, Micrognathia, Microcornea, Abnormal chorioretinal... ORPHA:564
Epidermolysis Bullosa, Junctional 4, Intermediate
Dental enamel pits, Carious teeth OMIM:619787
Epithelial Recurrent Erosion Dystrophy
Corneal scarring, Subepithelial corneal opacities, Irregular astigmatism, Recurrent corneal erosi... ORPHA:293381
Linear Skin Defects With Multiple Congenital Anomalies 1
Cleft palate, Peters anomaly, Iris coloboma, Cataract, Sclerocornea OMIM:309801
Corneal Dystrophy, Fuchs Endothelial, 6
Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal dystrophy, Corne... OMIM:613270
Multicentric Carpotarsal Osteolysis Syndrome
Micrognathia, Corneal opacity, Inability to walk, Hypoplasia of the maxilla OMIM:166300
Corneal Dystrophy, Thiel-Behnke Type
Corneal scarring, Corneal dystrophy, Juvenile epithelial corneal dystrophy OMIM:602082
Bartsocas-Papas Syndrome 2
Corneal opacity, Accessory oral frenulum, Micrognathia, Popliteal pterygium, Bilateral cleft lip ... OMIM:619339
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Mucolipidosis Type Iv
Corneal opacity, Ataxia, Everted lower lip vermilion, Microdontia, Gait disturbance ORPHA:578
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Taurodontia, High, narrow palate, Short philtrum, Macrodontia, Microcornea, Delayed eruption of t... ORPHA:3214
Ophthalmomandibulomelic Dysplasia
Temporomandibular joint ankylosis, Corneal opacity, Megalocornea, Obtuse angle of mandible ORPHA:2741
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Enamel hypoplasia, Supernumerary tooth, Abnormal dental enamel morphology ORPHA:3196
Neurocardiofaciodigital Syndrome
High palate, Retrognathia, Thin vermilion border, Cataract, Sclerocornea OMIM:619869
Tricho-Retino-Dento-Digital Syndrome
Supernumerary tooth, Abnormality of the dentition, Oligodontia, Juvenile cataract ORPHA:1264
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Wide mouth, Corneal opacity, Micrognathia, Oligodontia, Long philtrum, Conjunctivitis,... OMIM:602562
Microphthalmia With Linear Skin Defects Syndrome
Abnormal dental enamel morphology, Corneal opacity, Retrognathia, Micrognathia, Posterior embryot... ORPHA:2556
Amelo-Onycho-Hypohidrotic Syndrome
Abnormal dental enamel morphology, Tooth agenesis, Everted lower lip vermilion, Delayed eruption ... ORPHA:1028
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Phace Syndrome
Sclerocornea, Iris coloboma, Cataract, Heterochromia iridis, Lens coloboma ORPHA:42775
Aniridia 2
Iris coloboma, Lens subluxation, Cataract, Aniridia OMIM:617141
Usher Syndrome Type 2
Ataxia, Microdontia, Carious teeth, Iris hypopigmentation, Abnormality of dental color, Cataract,... ORPHA:231178
Isolated Ectopia Lentis
Malar flattening, Ectopia pupillae, Cataract, Mandibular prognathia, Ectopia lentis ORPHA:1885
Brachyolmia Type 1, Toledo Type
Gait disturbance, Opacification of the corneal stroma OMIM:271630
Cleft Lip/Palate
Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala... ORPHA:199306
Epidermolysis Bullosa, Junctional 1A, Intermediate
Enamel hypoplasia, Oral mucosal blisters, Hypodontia, Carious teeth OMIM:226650
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Corneal opacity, Micrognathia, Downturned corners of mouth, Developmental glaucoma, Aniridia ORPHA:1064
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Gingival overgrowth, Anterior cortical cataract, Corneal dystrophy OMIM:221800
Shaheen Syndrome
Enamel hypoplasia, Carious teeth OMIM:615328
Isolated Optic Nerve Hypoplasia/Aplasia
Corneal opacity, Aplasia/Hypoplasia of the iris, Chorioretinal coloboma ORPHA:137902
Teeth, Supernumerary
Supernumerary tooth, Mesiodens OMIM:187100
Norrie Disease
Corneal opacity, Abnormal pupil morphology, Malar flattening, Thin vermilion border, Anterior cha... ORPHA:649
Iris Hypoplasia With Glaucoma
Hypoplasia of the iris, Iris atrophy OMIM:308500
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Corneal opacity, Shallow anterior chamber, Buphthalmos, Microcornea, Iris coloboma, Uveitis, Cata... OMIM:221900
Impacted Teeth, Multiple
Multiple impacted teeth, Supernumerary tooth OMIM:308280
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Corneal opacity, Micrognathia, Gait ataxia, Cataract, Spastic gait, Mandibular prognathia ORPHA:496790
Axenfeld-Rieger Syndrome, Type 1
Polycoria, Hypodontia, Abnormally prominent line of Schwalbe, Ectopia pupillae, Short philtrum, M... OMIM:180500
Distal Monosomy 6P
Corneal opacity, Malar flattening, Abnormal anterior chamber morphology, Ectopia pupillae, Abnorm... ORPHA:96125
Scheie Syndrome
Mandibular prognathia, Corneal opacity OMIM:607016
Yunis-Varon Syndrome
High, narrow palate, Glossoptosis, Micrognathia, Short philtrum, Thin vermilion border, Premature... ORPHA:3472
Norrie Disease
Corneal opacity, Shallow anterior chamber, Buphthalmos, Opacification of the corneal stroma, Hypo... OMIM:310600
Sjogren-Larsson Syndrome
Enamel hypoplasia, Opacification of the corneal epithelium, Astigmatism OMIM:270200
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Microphthalmia, Syndromic 3
Cataract, Sclerocornea OMIM:206900
Mucolipidosis Iv
Corneal opacity, Opacification of the corneal stroma OMIM:252650
Oculomaxillofacial Dysostosis
Corneal opacity, Cleft palate, Abnormality of the dentition, Micrognathia, Median cleft lip ORPHA:1794
Oculodentodigital Dysplasia, Autosomal Recessive
Abnormal dental enamel morphology, Dental malocclusion, Narrow mouth, Macrodontia of permanent ma... OMIM:257850
Mucopolysaccharidosis Type 4
Wide mouth, Corneal opacity, Abnormality of the dentition, Grayish enamel, Carious teeth, Gait di... ORPHA:582
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, Developmental cataract OMIM:618815
Axenfeld-Rieger Syndrome, Type 3
Hypodontia, Malar flattening, Ectopia pupillae, Posterior embryotoxon, Microdontia, Hypoplasia of... OMIM:602482
Atopic Keratoconjunctivitis
Keratitis, Corneal opacity, Corneal neovascularization, Chemosis, Keratoconjunctivitis sicca ORPHA:163934
Juvenile Sialidosis Type 2
Gingival overgrowth, Corneal opacity, Ataxia, Loss of ambulation, Dysmetria, Protruding tongue, C... ORPHA:93399
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Osteoporosis-Pseudoglioma Syndrome
Loss of ambulation, Corneal opacity, Waddling gait ORPHA:2788
Axenfeld-Rieger Syndrome, Type 2
Hypodontia, Everted lower lip vermilion, Anterior chamber synechiae, Short philtrum, Opacificatio... OMIM:601499
Tyrosinemia Type 2
Corneal opacity, Malar flattening, Ataxia ORPHA:28378
Lowry-Maclean Syndrome
Corneal opacity, High, narrow palate, Cleft palate, Talon cusp, Retrognathia, Micrognathia, Megal... ORPHA:2409
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Sialidosis Type 2
Corneal opacity, Ataxia ORPHA:87876
Olmsted Syndrome 1
Corneal opacity, Opacification of the corneal stroma OMIM:614594
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome
Corneal opacity, Malar flattening, Micrognathia, Cataract, Dental crowding, Mandibular prognathia... OMIM:612469
Sialidosis Type 1
Corneal opacity, Ataxia, Gait disturbance, Cataract, Thick lower lip vermilion ORPHA:812
Ophthalmomandibulomelic Dysplasia
Temporomandibular joint ankylosis, Megalocornea, Opacification of the corneal stroma OMIM:164900
Erythrokeratodermia Variabilis
Corneal opacity, Cataract ORPHA:317
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Dental malocclusion, Persistence of primary teeth, Malar flattening, Ectopia pupillae, Oligodonti... OMIM:618727
Digeorge Syndrome
High palate, High, narrow palate, Cleft palate, Micrognathia, Short philtrum, Posterior embryotox... OMIM:188400
Oculocerebral Hypopigmentation Syndrome, Cross Type
Corneal opacity, Choroideremia, Ocular albinism, Narrow mouth, Ataxia, Microdontia, Athetosis, Ir... ORPHA:2719
Microphthalmia, Syndromic 6
High palate, Cleft palate, Retrognathia, Micrognathia, Microcornea, Bifid uvula, Microglossia, Sc... OMIM:607932
Amelocerebrohypohidrotic Syndrome
Abnormal dental enamel morphology, Yellow-brown discoloration of the teeth, Amelogenesis imperfec... ORPHA:1946
Megalocornea-Intellectual Disability Syndrome
High palate, Ataxia, Everted lower lip vermilion, Abnormal anterior chamber morphology, Micrognat... ORPHA:2479
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Keratitis, Carious teeth, Enamel hypoplasia, Cataract, Conjunctivitis OMIM:612843
Bartsocas-Papas Syndrome
Corneal opacity, Narrow mouth, Cleft palate, Micrognathia, Popliteal pterygium, Median cleft lip ORPHA:1234
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity, Conical primary incisor OMIM:602400
Jalili Syndrome
Abnormal dental enamel morphology, Amelogenesis imperfecta, Abnormality of dental color ORPHA:1873
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Corneal opacity, Agenesis of central incisor, Long upper lip, Cleft palate, Everted lower lip ver... ORPHA:364577
Facial Spasm
Anisocoria OMIM:134300
Congenital Rubella Syndrome
Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract ORPHA:290
Lecithin:Cholesterol Acyltransferase Deficiency
Opacification of the corneal stroma OMIM:245900
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
X-Linked Recessive Ocular Albinism
Iris hypopigmentation, Astigmatism, Abnormal pupil morphology, Ocular albinism ORPHA:54
Sanjad-Sakati Syndrome
Corneal opacity, Thin vermilion border, Abnormality of the dentition, Micrognathia, Long philtrum... ORPHA:2323
Scheie Syndrome
Thick vermilion border, Wide mouth, Corneal opacity, Everted lower lip vermilion ORPHA:93474
Alpha-Mannosidosis, Adult Form
Corneal opacity, Cataract, Macroglossia, Ataxia ORPHA:309288
Mucopolysaccharidoses, Unclassified Types
Opacification of the corneal stroma OMIM:252700
Fish-Eye Disease
Corneal opacity ORPHA:79292
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity, Microdontia ORPHA:1765
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Congenital Sialidosis Type 2
Gingival overgrowth, Corneal opacity, Ataxia, Dysmetria, Protruding tongue, Cataract, Development... ORPHA:93400
Triopia
Abnormal pupil morphology, Cleft palate, Microcornea, Iris coloboma, Median cleft lip ORPHA:3374
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Corneal opacity, Cataract OMIM:613153
Zellweger Syndrome
High palate, Corneal opacity, Abnormality of the tongue, Micrognathia, Posterior embryotoxon, Abn... ORPHA:912
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
High palate, Dental malocclusion, Spherophakia, Shallow anterior chamber, Malar flattening, Retro... OMIM:601552
Aniridia 1
Corneal neovascularization, Ectopia pupillae, Opacification of the corneal stroma, Chorioretinal ... OMIM:106210
Persistent Hyperplastic Primary Vitreous
Corneal opacity, Shallow anterior chamber, Buphthalmos, Microcornea, Cataract, Developmental cata... ORPHA:91495
Familial Dysautonomia
Corneal opacity, Ataxia, Abnormal pupil morphology, Gait disturbance, Corneal erosion, Heterochro... ORPHA:1764
Hurler-Scheie Syndrome
Corneal opacity ORPHA:93476
Woolly Hair
Abnormal pupil morphology, Cataract ORPHA:170
Megalocornea-Mental Retardation Syndrome
High palate, Ataxia, Micrognathia, Megalocornea, Long philtrum, Bifid uvula, Iridodonesis, Hypopl... OMIM:249310
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Walker-Warburg Syndrome
Corneal opacity, Cleft palate, Microcornea, Bifid uvula, Iris coloboma, Cataract, Chorioretinal d... ORPHA:899
Yunis-Varon Syndrome
High palate, Thin vermilion border, Micrognathia, Short philtrum, Premature loss of primary teeth... OMIM:216340
Craniolenticulosutural Dysplasia
High palate, Wide mouth, Premature loss of teeth, Thin vermilion border, Long philtrum, Microdont... ORPHA:50814
Trisomy 9P
Abnormal pupil morphology, Impacted tooth, Downturned corners of mouth, Non-midline cleft lip, De... ORPHA:236
Ameloonychohypohidrotic Syndrome
Hypocalcification of dental enamel, Yellow-brown discoloration of the teeth, Marked delay in erup... OMIM:104570
Cutis Laxa, Autosomal Dominant 3
Corneal opacity, Developmental cataract OMIM:616603
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity ORPHA:281090
Coloboma, Ocular, Autosomal Dominant
Peters anomaly, Corneal opacity, Chorioretinal coloboma OMIM:120200
Gm1 Gangliosidosis
Gingival overgrowth, Corneal opacity, Narrow mouth, Ataxia, Macroglossia, Long philtrum, Gait dis... ORPHA:354
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Hereditary Bullous Dystrophy, Macular Type
Corneal opacity, Cataract ORPHA:1867
Phacoanaphylactic Uveitis
Keratitis, Pseudophakia, Hypopyon, Panuveitis, Abnormal pupil morphology, Corneal stromal edema, ... ORPHA:209959
Ocular Cystinosis
Corneal crystals ORPHA:411641
Oculodentodigital Dysplasia
Ataxia, Tooth agenesis, Taurodontia, Cleft palate, Micrognathia, Premature loss of primary teeth,... ORPHA:2710
Incontinentia Pigmenti
Keratitis, Corneal opacity, Hypodontia, Delayed eruption of teeth, Abnormal chorioretinal morphol... ORPHA:464
Oculocerebrocutaneous Syndrome
Wide mouth, Corneal opacity, Iris coloboma, Oral cleft ORPHA:1647
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
High palate, Corneal opacity, Long upper lip, Cleft palate, Everted lower lip vermilion, Microgna... OMIM:608670
Schimmelpenning-Feuerstein-Mims Syndrome
Abnormality of dental morphology, Corneal opacity, Abnormality of dental color OMIM:163200
Cystinosis
Gait disturbance, Corneal opacity ORPHA:213
Brachymesomelia-Renal Syndrome
Micrognathia, Opacification of the corneal stroma OMIM:113470
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Nasopalpebral Lipoma-Coloboma Syndrome
Corneal opacity, Cataract, Hypoplasia of the maxilla, Conjunctival hyperemia ORPHA:2399
Mucopolysaccharidosis, Type Iva
Wide mouth, Opacification of the corneal stroma, Grayish enamel, Carious teeth, Widely spaced tee... OMIM:253000
Moebius Syndrome
High palate, Corneal opacity, Tooth agenesis, Aplasia/Hypoplasia of the tongue, Cleft palate, Eve... ORPHA:570
Multicentric Osteolysis, Nodulosis, And Arthropathy
Corneal opacity, Gingival overgrowth, Micrognathia, Delayed eruption of teeth, Gait disturbance, ... OMIM:259600
Hurler-Scheie Syndrome
Thick vermilion border, Micrognathia, Corneal opacity OMIM:607015
1Q41Q42 Microdeletion Syndrome
Thick vermilion border, Submucous cleft hard palate, Cleft palate, Abnormality iris morphology ORPHA:250999
Aortic Aneurysm, Familial Thoracic 6
Iris flocculi OMIM:611788
Lcat Deficiency
Corneal opacity ORPHA:650
Coats Disease
Leukocoria OMIM:300216
Focal Dermal Hypoplasia
Corneal opacity, Tooth agenesis, Open bite, Abnormality of the dentition, Iris coloboma, Hypoplas... ORPHA:2092
Multiple Sulfatase Deficiency
Corneal opacity, Cataract, Smooth philtrum ORPHA:585
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Anodontia, Opacification of the corneal stroma, Cataract, Hypoplasia of the maxilla OMIM:211370
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Corneal ulceration, Corneal scarring, Opacification of the corneal stroma, Recurrent c... OMIM:256800
Charcot-Marie-Tooth Disease Type 1E
Gait imbalance, Inability to walk, Abnormal pupil morphology, Anisocoria, Gait disturbance, Diffi... ORPHA:90658
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Retrognathia, Corneal opacity, Hypodontia, Astigmatism OMIM:301056
Oculocerebrorenal Syndrome Of Lowe
Cheilitis, Abnormality of the dentition, Delayed eruption of teeth, Carious teeth, Cataract, Lent... ORPHA:534
Fucosidosis
Abnormality of the dentition, Corneal opacity ORPHA:349
Proteus-Like Syndrome
Abnormal pupil morphology, Open bite, Limbal dermoid, Cataract, Heterochromia iridis, Mandibular ... ORPHA:2969
De Barsy Syndrome
High palate, Corneal opacity, Narrow mouth, Progressive cerebellar ataxia, Delayed eruption of te... ORPHA:2962
Congenital Muscular Dystrophy With Cerebellar Involvement
Megalocornea, Cataract, Macroglossia, Abnormality iris morphology ORPHA:370959
Fryns Syndrome
High palate, Wide mouth, Corneal opacity, Cleft palate, Micrognathia, Long philtrum, Tented upper... ORPHA:2059
Proboscis Lateralis
High palate, Corneal opacity, Abnormal facial skeleton morphology, Long philtrum, Microcornea, Ab... ORPHA:141099
Late-Onset Retinal Degeneration
Abnormal suspensory ligament of lens morphology, Chorioretinal atrophy, Abnormal anterior eye seg... ORPHA:67042
Pelvis-Shoulder Dysplasia
Iris coloboma, Opacification of the corneal stroma OMIM:169550
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology ORPHA:2151
Multiple Sulfatase Deficiency
Corneal opacity, Ataxia OMIM:272200
Schimke Immuno-Osseous Dysplasia
Corneal opacity, Hypodontia, Microdontia, Abnormality of primary molar morphology ORPHA:1830
Hec Syndrome
Abnormal pupil morphology, Developmental cataract ORPHA:2119
Mucopolysaccharidosis Type 1
Gingival overgrowth, Corneal opacity, Sinusitis, Everted lower lip vermilion, Microdontia, Widely... ORPHA:579
Chime Syndrome
Corneal opacity, Supernumerary tooth, Hypodontia, Cleft palate, Abnormality of the dentition, Sho... ORPHA:3474
Hurler Syndrome
Gingival overgrowth, Corneal opacity, Macroglossia, Opacification of the corneal stroma, Microdon... OMIM:607014
Tbck-Related Intellectual Disability Syndrome
Corneal opacity, Inability to walk, High, narrow palate, Macroglossia, Long philtrum, Tented uppe... ORPHA:488632
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Wilson Disease
Difficulty walking, Kayser-Fleischer ring ORPHA:905
Mucopolysaccharidosis, Type Vii
Widely spaced teeth, Gingival overgrowth, Corneal opacity, Macroglossia OMIM:253220
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cleft upper lip, Corneal opacity, Cleft palate, Buphthalmos, Micrognathia, Megalocornea, Peters a... OMIM:236670
Mucopolysaccharidosis Type 3
Corneal opacity, Ataxia, Loss of ambulation, Macroglossia, Abnormality of the dentition, Opacific... ORPHA:581
Enamel-Renal Syndrome
Abnormal dental enamel morphology, Gingival overgrowth, Delayed eruption of teeth, Yellow-brown d... ORPHA:1031
Kindler Epidermolysis Bullosa
Corneal opacity, Cheilitis, Periodontitis, Premature loss of primary teeth, Carious teeth, Gingiv... ORPHA:2908
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Broad-based gait, Corneal opacity, Buphthalmos, Micrognathia, Long philtrum, Corneal dystrophy, T... ORPHA:495875
Acrofrontofacionasal Dysostosis 1
Cleft upper lip, Wide mouth, Cleft palate, Malar flattening, Oligodontia, Mandibular prognathia, ... OMIM:201180
Mosaic Trisomy 8
High palate, Micrognathia, Corneal opacity, Cleft palate ORPHA:96061
Juvenile Glaucoma
Abnormal anterior chamber morphology, Abnormality iris morphology ORPHA:98977
3Mc Syndrome 3
Cleft upper lip, Corneal opacity, Cleft palate OMIM:248340
Hereditary Acrokeratotic Poikiloderma
Narrow mouth, Open bite, Abnormality of the dentition, Keratoconjunctivitis, Opacification of the... ORPHA:2907
Alpha-Mannosidosis, Infantile Form
Corneal opacity, Ataxia, Macroglossia, Astigmatism, Widely spaced teeth, Cataract, Mandibular pro... ORPHA:309282
Ablepharon Macrostomia Syndrome
Wide mouth, Corneal opacity, Thin vermilion border, Microdontia, Hypoplasia of the zygomatic bone... ORPHA:920
Mosaic Trisomy 9
High palate, Micrognathia, Corneal opacity, Cleft palate ORPHA:99776
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Corneal opacity, Lens subluxation ORPHA:85167
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Smooth tongue, Corneal opacity, Oral mucosal blisters, Enamel hypoplasia ORPHA:79396
Mucopolysaccharidosis Type 7
Corneal opacity ORPHA:584
Spondylodysplastic Ehlers-Danlos Syndrome
Corneal opacity, Narrow mouth, Long upper lip, Cleft palate, Abnormality of the dentition, Microg... ORPHA:536471
Farber Disease
Abnormal conjunctiva morphology, Corneal opacity, Opacification of the corneal stroma ORPHA:333
Osteogenesis Imperfecta
Dental malocclusion, Corneal opacity, Ataxia, Dentinogenesis imperfecta, Loss of ambulation, Abno... ORPHA:666
Mucopolysaccharidosis, Type Vi
Corneal opacity, Delayed eruption of teeth, Macroglossia, Carious teeth OMIM:253200
Apolipoprotein A-I Deficiency
Opacification of the corneal stroma ORPHA:425
Hurler Syndrome
Thick vermilion border, Corneal opacity, Macroglossia, Everted lower lip vermilion ORPHA:93473
Hutchinson-Gilford Progeria Syndrome
High palate, Corneal ulceration, Corneal opacity, Narrow mouth, Persistence of primary teeth, Hyp... ORPHA:740
Larsen Syndrome
Cleft upper lip, Corneal opacity, Hypodontia, Malar flattening, Cleft palate OMIM:150250
Williams Syndrome
Gait imbalance, Wide mouth, Ataxia, Blue irides, Megalocornea, Microdontia, Carious teeth, Catara... ORPHA:904
Congenital Disorder Of Deglycosylation 1
Corneal ulceration, Corneal opacity, Dysmetria, Athetosis, Open mouth OMIM:615273
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal opacity, Polycoria, Corneal neovascularization, Ectopia pupillae, Microcornea, Astigmatis... OMIM:175780
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Gait disturbance, Corneal opacity, Astigmatism ORPHA:464311
Encephalocraniocutaneous Lipomatosis
Corneal opacity, Craniofacial hyperostosis, Iris coloboma ORPHA:2396
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Thick vermilion border, Lip telangiectasia, Opacification of the corneal stroma, Telangiectasia o... ORPHA:79280
Pierson Syndrome
Uveal ectropion, Posterior lenticonus, Rieger anomaly, Cataract, Hypoplasia of the iris, Hypoplas... OMIM:609049
Dyrk1A-Related Intellectual Disability Syndrome
Gait disturbance, Corneal opacity, Astigmatism ORPHA:464306
Histiocytoid Cardiomyopathy
Congenital aphakia, Corneal opacity, Megalocornea, Cleft palate ORPHA:137675
Mosaic Variegated Aneuploidy Syndrome
Micrognathia, Corneal opacity, Cataract, Cleft palate ORPHA:1052
Peters Plus Syndrome
Cleft upper lip, Wide mouth, Corneal opacity, Cleft palate, Anterior chamber synechiae, Micrognat... ORPHA:709
Mucopolysaccharidosis Type 2, Severe Form
Corneal opacity, Temporomandibular joint ankylosis, Gingival overgrowth, Macroglossia, Abnormal u... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Corneal opacity, Temporomandibular joint ankylosis, Gingival overgrowth, Macroglossia, Abnormal u... ORPHA:217093
Thrombocytopenia-Absent Radius Syndrome
Corneal opacity, Malar flattening, Cleft palate, Micrognathia, Cataract OMIM:274000
Fabry Disease
Corneal opacity, Conjunctival telangiectasia, Cataract, Corneal dystrophy, Thick lower lip vermilion ORPHA:324
Neurofibromatosis Type 1
Corneal opacity, Ataxia, Lisch nodules, Cataract, Heterochromia iridis, Chorioretinal coloboma ORPHA:636
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Keratitis, Corneal opacity, Cheilitis, Astigmatism, Uveitis, Corneal erosion, Conjunctivitis, Abn... ORPHA:2273
Wiedemann-Rautenstrauch Syndrome
Premature loss of teeth, Corneal opacity, Narrow mouth, Ataxia, Hypodontia, Malar flattening, Ret... ORPHA:3455
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Retrognathia, High, narrow palate, Abnormality iris morphology ORPHA:91387
Limb Body Wall Complex
Corneal opacity, Lens subluxation, Cleft palate, Cleft lip, Iris coloboma ORPHA:2369
Mucopolysaccharidosis Type 2
Gingival overgrowth, Corneal opacity, Temporomandibular joint ankylosis, Macroglossia, Thick verm... ORPHA:580
Fraser Syndrome 1
Cleft upper lip, Dental malocclusion, Corneal opacity, Cleft palate, Difficulty in tongue movemen... OMIM:219000
Gaucher Disease
Gingival bleeding, Corneal opacity, Ataxia ORPHA:355
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Broad-based gait, Corneal opacity, Limb ataxia ORPHA:2072
Tangier Disease
Corneal opacity ORPHA:31150
Autosomal Dominant Cutis Laxa
Corneal opacity, Developmental cataract ORPHA:90348
Wilson Disease
Kayser-Fleischer ring OMIM:277900

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 Esyt1

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 Esyt1.

No publications found that use IMPC mice or data for Esyt1.

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MGI Allele Allele Type Produced
Esyt1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Esyt1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Esyt1em1(IMPC)Hmgu Exon Deletion Mice
Esyt1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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