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Gene: Esyt1 MGI:1344426

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal iris transillumination Esyt1em1(IMPC)Hmgu HOM Early adult 2.45×10-05
sclerocornea Esyt1em1(IMPC)Hmgu HOM Early adult 2.83×10-05
abnormal tooth morphology Esyt1em1(IMPC)Hmgu HOM Early adult 7.28×10-15
abnormal gait Esyt1em1(IMPC)Hmgu HOM Early adult 4.94×10-09

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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

9 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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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, Corneal dystrophy, Band keratopathy OMIM:300779
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Progressive cerebellar ataxia, Corneal opacity, Corneal dystrophy, Ataxia ORPHA:3177
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Anterior Segment Dysgenesis 5
Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... OMIM:604229
Dermoids Of Cornea
Corneal opacity OMIM:304730
Brittle Cornea Syndrome 2
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Gait disturbance, Decreased corneal thickne... OMIM:614170
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea ORPHA:83461
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Rutherfurd Syndrome
Delayed eruption of primary teeth, Failure of eruption of permanent teeth, Corneal dystrophy, Opa... OMIM:180900
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Mucous Membrane Pemphigoid
Corneal opacity, Gingivitis, Oral mucosal blisters ORPHA:46486
Microphthalmia, Syndromic 16
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, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Dentin Dysplasia, Type I
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... OMIM:125400
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta OMIM:617297
Amelogenesis Imperfecta
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... ORPHA:88661
Rodrigues Blindness
Microcornea, Tooth malposition, Sclerocornea OMIM:268320
Microphthalmia, Isolated, With Coloboma 9
Sclerocornea, Microcornea, Long philtrum, Ocular anterior segment dysgenesis, Iris coloboma OMIM:615145
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta OMIM:613211
Microphthalmia With Brain And Digit Anomalies
Cataract, Sclerocornea, Microcornea, High palate, Chorioretinal coloboma, Iris coloboma ORPHA:139471
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity, Median cleft palate ORPHA:2432
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Corneal dystrophy, Sclerocornea, Abnormality of the dentition, Microcornea, Keratoconju... ORPHA:1806
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... ORPHA:98960
Cataract 21, Multiple Types
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... OMIM:610202
Morquio Syndrome C
Corneal opacity OMIM:252300
8Q21.11 Microdeletion Syndrome
Cataract, Corneal opacity, Exaggerated cupid's bow, Sclerocornea, Micrognathia, Abnormality of th... ORPHA:284160
3Q29 Microduplication Syndrome
Cataract, Sclerocornea, Abnormality of the dentition, Deep philtrum, Cleft palate, High palate, A... ORPHA:251038
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... OMIM:204700
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions OMIM:217800
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Oculoauricular Syndrome
Cataract, Short mandibular rami, Sclerocornea, Chorioretinal atrophy, Developmental cataract, Mic... OMIM:612109
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... ORPHA:98964
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Otodental Syndrome
Delayed eruption of teeth, Cataract, Abnormal dental enamel morphology, Agenesis of premolar, Car... ORPHA:2791
Amelogenesis Imperfecta, Type Ia
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta OMIM:104530
Amelogenesis Imperfecta, Type Iiib
Enamel hypomineralization, Amelogenesis imperfecta OMIM:617607
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta OMIM:617217
Galactosialidosis
Corneal opacity ORPHA:351
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Gorlin-Chaudhry-Moss Syndrome
Sclerocornea, Abnormality of the dentition, Hypoplasia of the maxilla, Oligodontia, Astigmatism ORPHA:2095
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Ring Dermoid Of Cornea
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... OMIM:180550
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Corneal Dystrophy And Perceptive Deafness
Corneal dystrophy, Opacification of the corneal stroma OMIM:217400
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Anterior Segment Dysgenesis 3
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... OMIM:601631
Amelogenesis Imperfecta, Type Iiia
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta OMIM:130900
Winchester Syndrome
Corneal opacity, Gingival overgrowth OMIM:277950
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Amelogenesis Imperfecta, Type Ic
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... OMIM:204650
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Al-Gazali Syndrome
Corneal opacity, Sclerocornea, Micrognathia OMIM:609465
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... OMIM:616221
Mietens Syndrome
Microcornea, Cataract, Corneal opacity, Sclerocornea ORPHA:2557
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition OMIM:114700
Dental Ankylosis
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology ORPHA:1077
Stickler Syndrome Type 2
Cataract, Corneal opacity, Cleft palate ORPHA:90654
Stromme Syndrome
Cataract, Sclerocornea, Micrognathia, Cleft palate, Microcornea, Wide mouth, Peters anomaly, Iris... OMIM:243605
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Corneal Dystrophy, Reis-Bucklers Type
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma OMIM:608470
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Corneal opacity, Bilateral cleft lip and palate, Chorioretinal coloboma, Posterior embr... ORPHA:1473
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... OMIM:618386
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Sclerocornea, Microcornea, Ectopia pupillae, Long philtrum OMIM:615877
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Exaggerated cupid's bow, Sclerocornea, Micrognathia, Cleft palate, Downturned corners o... OMIM:614230
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta OMIM:614832
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta OMIM:616270
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Anterior Segment Dysgenesis 4
Abnormality of the dentition, Hypoplastic iris stroma, Iris hypopigmentation OMIM:137600
Otodental Dysplasia
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... OMIM:166750
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:615887
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... ORPHA:49042
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... OMIM:136800
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... ORPHA:98963
Amelogenesis Imperfecta, Type Ie
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... OMIM:301200
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Gómez-López-Hernández Syndrome
Thin vermilion border, Corneal opacity, Ataxia ORPHA:1532
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Iris coloboma, Sclerocornea ORPHA:77298
Florid Cemento-Osseous Dysplasia
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... ORPHA:83451
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Ectopia lentis, Abnormality of the dentition, Microspherophakia, Deep anterior cham... OMIM:251750
Congenital Hereditary Endothelial Dystrophy Type Ii
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... ORPHA:293603
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Linear Skin Defects With Multiple Congenital Anomalies 3
Delayed eruption of primary teeth, Sclerocornea OMIM:300952
Iridocorneal Endothelial Syndrome
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... ORPHA:64734
Bilateral Acute Depigmentation Of The Iris
Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... ORPHA:69736
Amoebic Keratitis
Iris atrophy, Anterior uveitis, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri... ORPHA:67043
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... ORPHA:98973
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Iris coloboma, Chorioretinal coloboma OMIM:616428
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Limbal dermoid, Sclerocornea OMIM:613001
Keratoendotheliitis Fugax Hereditaria
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma OMIM:148200
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... ORPHA:98962
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... ORPHA:98969
Amelogenesis Imperfecta, Type Ik
Enamel hypoplasia, Amelogenesis imperfecta OMIM:620104
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... ORPHA:171673
Van Den Ende-Gupta Syndrome
Dental crowding, Sclerocornea, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Clef... OMIM:600920
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Thin vermilion border, Corneal opacity, Narrow mouth ORPHA:2370
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... ORPHA:98974
Harel-Yoon Syndrome
Mandibular prognathia, Corneal opacity, Ataxia, Micrognathia, Inability to walk, Developmental ca... OMIM:617183
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... ORPHA:2334
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Mandibular prognathia, Thin upper lip vermilion, Cataract, Corneal opacity, Chorioretinal dysplas... OMIM:152950
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Short Syndrome
Posterior embryotoxon, Corneal opacity, Abnormal dental enamel morphology, Abnormality of the den... ORPHA:3163
Wolf-Hirschhorn Syndrome
Ataxia, Abnormality of the philtrum, Sclerocornea, Cleft upper lip, Micrognathia, Cleft palate, D... ORPHA:280
Smith-Lemli-Opitz Syndrome
Cataract, Abnormal dental morphology, Abnormal dental enamel morphology, Sclerocornea, Micrognath... ORPHA:818
Failure Of Tooth Eruption, Primary
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth OMIM:125350
Alpha-Mannosidosis
Mandibular prognathia, Craniofacial hyperostosis, Cataract, Corneal opacity, Open bite, Dental ma... ORPHA:61
2Q24 Microdeletion Syndrome
Cataract, Abnormality iris morphology, Cleft palate, Abnormal oral frenulum morphology, Short phi... ORPHA:1617
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata OMIM:609141
Mucolipidosis Type Iii
Craniofacial hyperostosis, Corneal opacity, Cleft palate ORPHA:577
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Sclerocornea, Cleft palate, Peters anomaly, Iris coloboma OMIM:309801
Meckel Syndrome
Cataract, Abnormal chorioretinal morphology, Aplasia/Hypoplasia of the tongue, Sclerocornea, Micr... ORPHA:564
Epithelial Recurrent Erosion Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... ORPHA:293381
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... OMIM:613270
Corneal Dystrophy, Thiel-Behnke Type
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy OMIM:602082
Epidermolysis Bullosa, Junctional 4, Intermediate
Carious teeth, Dental enamel pits OMIM:619787
Bartsocas-Papas Syndrome 2
Corneal opacity, Accessory oral frenulum, Micrognathia, Antecubital pterygium, Bilateral cleft li... OMIM:619339
Multicentric Carpotarsal Osteolysis Syndrome
Hypoplasia of the maxilla, Inability to walk, Corneal opacity, Micrognathia OMIM:166300
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Usher Syndrome Type 2
Abnormality of dental color, Cataract, Ataxia, Abnormal dental enamel morphology, Carious teeth, ... ORPHA:231178
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Delayed eruption of teeth, Macrodontia, High, narrow palate, Microcornea, Anterior synechiae of t... ORPHA:3214
Mucolipidosis Type Iv
Corneal opacity, Ataxia, Gait disturbance, Everted lower lip vermilion, Microdontia ORPHA:578
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Ophthalmomandibulomelic Dysplasia
Obtuse angle of mandible, Megalocornea, Corneal opacity, Temporomandibular joint ankylosis ORPHA:2741
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Corneal opacity, Micrognathia, Keratitis, Wide mouth, Oligodontia, Conjunctivitis, Long philtrum,... OMIM:602562
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... ORPHA:1028
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia ORPHA:3196
Neurocardiofaciodigital Syndrome
Cataract, Sclerocornea, Thin vermilion border, High palate, Retrognathia OMIM:619869
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy, Corneal guttata OMIM:615523
Aniridia 2
Aniridia, Iris coloboma, Cataract, Lens subluxation OMIM:617141
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:125490
Isolated Ectopia Lentis
Mandibular prognathia, Cataract, Ectopia lentis, Ectopia pupillae, Malar flattening ORPHA:1885
Phace Syndrome
Cataract, Sclerocornea, Lens coloboma, Heterochromia iridis, Iris coloboma ORPHA:42775
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Tricho-Retino-Dento-Digital Syndrome
Supernumerary tooth, Oligodontia, Juvenile cataract, Abnormality of the dentition ORPHA:1264
Microphthalmia With Linear Skin Defects Syndrome
Corneal opacity, Chorioretinal dysplasia, Sclerocornea, Micrognathia, Abnormal dental enamel morp... ORPHA:2556
Epidermolysis Bullosa, Junctional 1A, Intermediate
Carious teeth, Enamel hypoplasia, Hypodontia, Oral mucosal blisters OMIM:226650
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... ORPHA:199306
Brachyolmia Type 1, Toledo Type
Gait disturbance, Opacification of the corneal stroma OMIM:271630
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Corneal opacity, Micrognathia, Developmental glaucoma, Downturned corners of mouth, Aniridia ORPHA:1064
Shaheen Syndrome
Carious teeth, Enamel hypoplasia OMIM:615328
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract, Gingival overgrowth OMIM:221800
Norrie Disease
Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Corneal opacity, Sclerocornea,... ORPHA:649
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Mandibular prognathia, Cataract, Corneal opacity, Micrognathia, Gait ataxia, Spastic gait ORPHA:496790
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Leukocoria, Uveitis, Microcornea, Buphthalmos, Shallow anterior chambe... OMIM:221900
Scheie Syndrome
Mandibular prognathia, Corneal opacity OMIM:607016
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Distal Deletion 6P
Posterior embryotoxon, Corneal opacity, Micrognathia, Abnormality of the dentition, Orofacial cle... ORPHA:96125
Yunis-Varon Syndrome
Cataract, Sclerocornea, Micrognathia, Premature loss of primary teeth, High, narrow palate, Abnor... ORPHA:3472
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Norrie Disease
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... OMIM:310600
Axenfeld-Rieger Syndrome, Type 1
Thin upper lip vermilion, Rieger anomaly, Hypoplasia of the maxilla, Polycoria, Microcornea, Hypo... OMIM:180500
Sjogren-Larsson Syndrome
Enamel hypoplasia, Astigmatism, Opacification of the corneal epithelium OMIM:270200
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Oculomaxillofacial Dysostosis
Median cleft lip, Corneal opacity, Abnormality of the dentition, Micrognathia, Cleft palate ORPHA:1794
Microphthalmia, Syndromic 3
Cataract, Sclerocornea OMIM:206900
Mucolipidosis Iv
Corneal opacity, Opacification of the corneal stroma OMIM:252650
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, Developmental cataract OMIM:618815
Axenfeld-Rieger Syndrome, Type 3
Hypoplasia of the iris, Ectopia pupillae, Posterior synechiae of the anterior chamber, Hypodontia... OMIM:602482
Mucopolysaccharidosis Type 4
Corneal opacity, Abnormal dental enamel morphology, Abnormality of the dentition, Grayish enamel,... ORPHA:582
Weill-Marchesani Syndrome 4
Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb... OMIM:613195
Axenfeld-Rieger Syndrome, Type 2
Mandibular prognathia, Hypoplasia of the maxilla, Microcornea, Short philtrum, Everted lower lip ... OMIM:601499
Atopic Keratoconjunctivitis
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization ORPHA:163934
Juvenile Sialidosis Type 2
Cataract, Ataxia, Corneal opacity, Protruding tongue, Gingival overgrowth, Dysmetria, Loss of amb... ORPHA:93399
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Tyrosinemia Type 2
Malar flattening, Corneal opacity, Ataxia ORPHA:28378
Sialidosis Type 2
Corneal opacity, Ataxia ORPHA:87876
Osteoporosis-Pseudoglioma Syndrome
Loss of ambulation, Corneal opacity, Waddling gait ORPHA:2788
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Gelatinous Drop-Like Corneal Dystrophy
Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op... ORPHA:98957
Lowry-Maclean Syndrome
Corneal opacity, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, High... ORPHA:2409
Erythrokeratodermia Variabilis
Cataract, Corneal opacity ORPHA:317
Ophthalmomandibulomelic Dysplasia
Megalocornea, Temporomandibular joint ankylosis, Opacification of the corneal stroma OMIM:164900
Wagro Syndrome
Mandibular prognathia, Cataract, Dental crowding, Corneal opacity, Micrognathia, Aniridia, Malar ... OMIM:612469
Sialidosis Type 1
Cataract, Corneal opacity, Ataxia, Thick lower lip vermilion, Gait disturbance ORPHA:812
Amelocerebrohypohidrotic Syndrome
Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b... ORPHA:1946
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Conical tooth, Persistence of primary teeth, Dental malocclusion, Oligodontia, Ectopia ... OMIM:618727
Facial Spasm
Anisocoria OMIM:134300
Digeorge Syndrome
Sclerocornea, Micrognathia, High, narrow palate, Cleft palate, High palate, Short philtrum, Recur... OMIM:188400
Microphthalmia, Syndromic 6
Sclerocornea, Micrognathia, Cleft palate, Microcornea, High palate, Microglossia, Retrognathia, B... OMIM:607932
Bartsocas-Papas Syndrome
Median cleft lip, Corneal opacity, Micrognathia, Cleft palate, Popliteal pterygium, Narrow mouth ORPHA:1234
Oculocerebral Hypopigmentation Syndrome, Cross Type
Cataract, Corneal opacity, Ataxia, Ocular albinism, Athetosis, Narrow mouth, Microdontia, Choroid... ORPHA:2719
Jalili Syndrome
Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta ORPHA:1873
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Cataract, Keratitis, Carious teeth, Conjunctivitis, Enamel hypoplasia OMIM:612843
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Cataract, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Na... OMIM:257850
Megalocornea-Intellectual Disability Syndrome
Iridodonesis, Ataxia, Micrognathia, Hypoplasia of the iris, Astigmatism, High palate, Short philt... ORPHA:2479
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity, Conical primary incisor OMIM:602400
Odontomicronychial Dysplasia
Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit... ORPHA:1811
Autosomal Recessive Cutis Laxa Type 2A
Corneal opacity, Ataxia, Inability to walk, Athetosis, Abnormal cornea morphology, Long philtrum ORPHA:357058
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Tented upper lip vermilion, Corneal opacity, Exaggerated cupid's bow, Abnormality of canine, Pier... ORPHA:364577
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity ORPHA:290
Alpha-Mannosidosis, Adult Form
Macroglossia, Cataract, Corneal opacity, Ataxia ORPHA:309288
Mucopolysaccharidosis, Type Ivb
Mandibular prognathia, Ataxia, Corneal opacity, Grayish enamel, Carious teeth, Wide mouth, Widely... OMIM:253010
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Sanjad-Sakati Syndrome
Corneal opacity, Abnormal dental enamel morphology, Micrognathia, Abnormality of the dentition, T... ORPHA:2323
X-Linked Recessive Ocular Albinism
Abnormal pupil morphology, Astigmatism, Ocular albinism, Iris hypopigmentation ORPHA:54
Scheie Syndrome
Wide mouth, Thick vermilion border, Everted lower lip vermilion, Corneal opacity ORPHA:93474
Fish-Eye Disease
Corneal opacity ORPHA:79292
Dyschondrosteosis-Nephritis Syndrome
Microdontia, Corneal opacity ORPHA:1765
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Congenital Sialidosis Type 2
Cataract, Ataxia, Corneal opacity, Protruding tongue, Gingival overgrowth, Dysmetria, Development... ORPHA:93400
Unilateral Ocular Duplication
Median cleft lip, Abnormal pupil morphology, Cleft palate, Microcornea, Iris coloboma ORPHA:3374
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... ORPHA:263479
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Cataract, Ectopia lentis, Dental malocclusion, Spherophakia, Anterior synechiae of ... OMIM:601552
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity OMIM:613153
Zellweger Syndrome
Cataract, Abnormal chorioretinal morphology, Corneal opacity, Micrognathia, Brushfield spots, Abn... ORPHA:912
Familial Dysautonomia
Ataxia, Corneal opacity, Abnormal pupil morphology, Corneal erosion, Gait disturbance, Heterochro... ORPHA:1764
Aniridia 1
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... OMIM:106210
Persistent Hyperplastic Primary Vitreous
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... ORPHA:91495
Hurler-Scheie Syndrome
Corneal opacity ORPHA:93476
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of teeth, Wide mo... ORPHA:50814
Woolly Hair
Abnormal pupil morphology, Cataract ORPHA:170
Walker-Warburg Syndrome
Cataract, Corneal opacity, Chorioretinal dysplasia, Submucous cleft hard palate, Cleft palate, Mi... ORPHA:899
Neuhauser Syndrome
Iridodonesis, Ataxia, Micrognathia, Hypoplasia of the iris, High palate, Long philtrum, Megalocor... OMIM:249310
Ameloonychohypohidrotic Syndrome
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... OMIM:104570
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Yunis-Varon Syndrome
Thin upper lip vermilion, Cataract, Sclerocornea, Micrognathia, Premature loss of primary teeth, ... OMIM:216340
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity ORPHA:281090
Trisomy 9P
Dental crowding, Abnormal pupil morphology, Non-midline cleft lip, Impacted tooth, Downturned cor... ORPHA:236
Phacoanaphylactic Uveitis
Hypopyon, Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium mo... ORPHA:209959
Ankyloglossia With Or Without Tooth Anomalies
Supernumerary tooth, Ankyloglossia OMIM:106280
Coloboma, Ocular, Autosomal Dominant
Corneal opacity, Chorioretinal coloboma, Peters anomaly OMIM:120200
Gm1 Gangliosidosis
Mandibular prognathia, Ataxia, Corneal opacity, Unsteady gait, Gingival overgrowth, Macroglossia,... ORPHA:354
Oculodentodigital Dysplasia
Mandibular prognathia, Cataract, Ataxia, Abnormal dental enamel morphology, Median cleft lip, Mic... ORPHA:2710
Ocular Cystinosis
Corneal crystals ORPHA:411641
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity ORPHA:1867
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Incontinentia Pigmenti
Delayed eruption of teeth, Cataract, Abnormal chorioretinal morphology, Corneal opacity, Abnormal... ORPHA:464
Oculocerebrocutaneous Syndrome
Wide mouth, Corneal opacity, Iris coloboma, Orofacial cleft ORPHA:1647
Lacrimoauriculodentodigital Syndrome 2
Conical tooth, Carious teeth, Conjunctivitis, Hypodontia, Microdontia OMIM:620192
Cystinosis
Corneal opacity, Gait disturbance ORPHA:213
Olmsted Syndrome 1
Corneal opacity, Opacification of the corneal stroma OMIM:614594
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Tented upper lip vermilion, Corneal opacity, Exaggerated cupid'... OMIM:608670
Moebius Syndrome
Corneal opacity, Aplasia/Hypoplasia of the tongue, Micrognathia, Cleft palate, Tooth agenesis, Hi... ORPHA:570
Multicentric Osteolysis, Nodulosis, And Arthropathy
Delayed eruption of teeth, Peripheral opacification of the cornea, Corneal opacity, Micrognathia,... OMIM:259600
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Conjunctival hyperemia, Cataract, Corneal opacity ORPHA:2399
Hurler-Scheie Syndrome
Thick vermilion border, Corneal opacity, Micrognathia OMIM:607015
Aortic Aneurysm, Familial Thoracic 6
Iris flocculi OMIM:611788
1Q41Q42 Microdeletion Syndrome
Submucous cleft hard palate, Thick vermilion border, Abnormality iris morphology, Cleft palate ORPHA:250999
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Enamel hypoplasia, Corneal pterygium, Symblepharon, Amelogenesis imperfecta OMIM:245660
Lcat Deficiency
Corneal opacity ORPHA:650
Charcot-Marie-Tooth Disease Type 1E
Inability to walk, Abnormal pupil morphology, Anisocoria, Steppage gait, Gait disturbance, Gait i... ORPHA:90658
Focal Dermal Hypoplasia
Corneal opacity, Abnormal dental morphology, Abnormal dental enamel morphology, Ectopia lentis, O... ORPHA:2092
Coats Disease
Leukocoria OMIM:300216
Schimmelpenning-Feuerstein-Mims Syndrome
Abnormality of dental color, Corneal opacity OMIM:163200
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hypodontia, Astigmatism, Corneal opacity, Retrognathia OMIM:301056
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Dental crowding, Chorioretinal dysplasia, Micrognathia, Abnormal pupil mor... ORPHA:534
Multiple Sulfatase Deficiency
Cataract, Corneal opacity, Smooth philtrum ORPHA:585
Congenital Muscular Dystrophy With Cerebellar Involvement
Macroglossia, Megalocornea, Cataract, Abnormality iris morphology ORPHA:370959
De Barsy Syndrome
Delayed eruption of teeth, Cataract, Corneal opacity, Small, conical teeth, Athetosis, Progressiv... ORPHA:2962
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corneal stroma, Cor... OMIM:256800
Proteus-Like Syndrome
Mandibular prognathia, Cataract, Open bite, Abnormal pupil morphology, Limbal dermoid, Heterochro... ORPHA:2969
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Corneal opacity, Micrognathia, Hypoplasia of the maxilla, Narrow philt... OMIM:601812
Fryns Syndrome
Tented upper lip vermilion, Corneal opacity, Median cleft lip, Micrognathia, Non-midline cleft li... ORPHA:2059
Pelvis-Shoulder Dysplasia
Iris coloboma, Opacification of the corneal stroma OMIM:169550
Fucosidosis
Corneal opacity, Abnormality of the dentition ORPHA:349
Proboscis Lateralis
Aplasia/Hypoplasia of the maxilla, Cataract, Corneal opacity, Abnormal paranasal sinus morphology... ORPHA:141099
Late-Onset Retinal Degeneration
Iris atrophy, Choroidal neovascularization, Abnormal anterior eye segment morphology, Chorioretin... ORPHA:67042
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology ORPHA:2151
Hec Syndrome
Abnormal pupil morphology, Developmental cataract ORPHA:2119
Schimke Immuno-Osseous Dysplasia
Microdontia, Corneal opacity, Hypodontia, Abnormal primary molar morphology ORPHA:1830
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Multiple Sulfatase Deficiency
Corneal opacity, Ataxia OMIM:272200
Chime Syndrome
Abnormal dental morphology, Corneal opacity, Abnormality of the dentition, Supernumerary tooth, C... ORPHA:3474
Mucopolysaccharidosis Type 1
Sinusitis, Corneal opacity, Thick lower lip vermilion, Gingival overgrowth, Widely spaced teeth, ... ORPHA:579
Hurler Syndrome
Corneal opacity, Gingival overgrowth, Macroglossia, Thick vermilion border, Opacification of the ... OMIM:607014
Tbck-Related Intellectual Disability Syndrome
Mandibular prognathia, Tented upper lip vermilion, Corneal opacity, Inability to walk, High, narr... ORPHA:488632
Cutis Laxa, Autosomal Dominant 3
Corneal opacity, Developmental cataract OMIM:616603
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Corneal opacity, Micrognathia, Cleft upper lip, Cleft palate, Buphthalmos, Peters anoma... OMIM:236670
Wilson Disease
Kayser-Fleischer ring, Difficulty walking ORPHA:905
Enamel-Renal Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... ORPHA:1031
Acrofrontofacionasal Dysostosis 1
Mandibular prognathia, Iris atrophy, Cleft upper lip, Cleft palate, Wide mouth, Oligodontia, Mala... OMIM:201180
Kindler Epidermolysis Bullosa
Corneal opacity, Abnormal dental enamel morphology, Premature loss of primary teeth, Carious teet... ORPHA:2908
Mosaic Trisomy 8
High palate, Corneal opacity, Cleft palate, Micrognathia ORPHA:96061
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Broad-based gait, Corneal opacity, Corneal dystrophy, Micrognathia, Tented philtrum, Buphthalmos,... ORPHA:495875
Juvenile Glaucoma
Abnormal anterior chamber morphology, Abnormality iris morphology ORPHA:98977
Mucopolysaccharidosis Type 3
Craniofacial hyperostosis, Cataract, Corneal opacity, Ataxia, Abnormality of the dentition, Macro... ORPHA:581
3Mc Syndrome 3
Corneal opacity, Cleft palate, Cleft upper lip OMIM:248340
Alpha-Mannosidosis, Infantile Form
Mandibular prognathia, Cataract, Corneal opacity, Ataxia, Macroglossia, Abnormality of the spheno... ORPHA:309282
Dyggve-Melchior-Clausen Disease
Inability to walk, Corneal opacity, Difficulty walking ORPHA:239
Ablepharon Macrostomia Syndrome
Corneal opacity, Hypoplasia of the maxilla, Corneal erosion, Wide mouth, Thin vermilion border, H... ORPHA:920
Hereditary Acrokeratotic Poikiloderma
Premature loss of primary teeth, Abnormality of the dentition, Open bite, Trismus, Gingivitis, Ke... ORPHA:2907
Mucopolysaccharidosis, Type Vii
Macroglossia, Corneal opacity, Widely spaced teeth, Gingival overgrowth OMIM:253220
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Corneal opacity, Lens subluxation ORPHA:85167
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormality of the temporomandibular joint, Corneal opacity, Abnormality of the dentition, Microg... ORPHA:536471
Mosaic Trisomy 9
High palate, Corneal opacity, Cleft palate, Micrognathia ORPHA:99776
Farber Disease
Abnormal conjunctiva morphology, Corneal opacity, Opacification of the corneal stroma ORPHA:333
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Enamel hypoplasia, Corneal opacity, Smooth tongue, Oral mucosal blisters ORPHA:79396
Mucopolysaccharidosis Type 7
Corneal opacity ORPHA:584
Osteogenesis Imperfecta
Delayed eruption of teeth, Abnormality of dental color, Ataxia, Corneal opacity, Abnormal dental ... ORPHA:666
Apolipoprotein A-I Deficiency
Opacification of the corneal stroma ORPHA:425
Mucopolysaccharidosis, Type Vi
Delayed eruption of teeth, Macroglossia, Corneal opacity, Carious teeth OMIM:253200
Hurler Syndrome
Macroglossia, Thick vermilion border, Everted lower lip vermilion, Corneal opacity ORPHA:93473
Hutchinson-Gilford Progeria Syndrome
Delayed eruption of teeth, Dental crowding, Corneal opacity, Short lingual frenulum, Persistence ... ORPHA:740
Congenital Disorder Of Deglycosylation 1
Corneal opacity, Dysmetria, Athetosis, Open mouth, Corneal ulceration OMIM:615273
Williams Syndrome
Micrognathia, Dysmetria, Microdontia, Megalocornea, Ataxia, Abnormal dental enamel morphology, Ab... ORPHA:904
Larsen Syndrome
Corneal opacity, Cleft upper lip, Cleft palate, Hypodontia, Malar flattening OMIM:150250
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Astigmatism, Corneal opacity, Gait disturbance ORPHA:464311
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal opacity, Polycoria, Developmental cataract, Microcornea, Hypoplasia of the iris, Ectopia ... OMIM:175780
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Corneal opacity, Iris coloboma ORPHA:2396
Histiocytoid Cardiomyopathy
Cleft palate, Megalocornea, Corneal opacity, Congenital aphakia ORPHA:137675
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Thick vermilion border, Lip telangiectasia, Opacification of t... ORPHA:79280
Mosaic Variegated Aneuploidy Syndrome
Cataract, Corneal opacity, Cleft palate, Micrognathia ORPHA:1052
Pierson Syndrome
Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Uveal ectropion, Hypoplasia of the iris... OMIM:609049
Peters Plus Syndrome
Thin upper lip vermilion, Cataract, Corneal opacity, Exaggerated cupid's bow, Micrognathia, Cleft... ORPHA:709
Dyrk1A-Related Intellectual Disability Syndrome
Astigmatism, Corneal opacity, Gait disturbance ORPHA:464306
Mucopolysaccharidosis Type 2, Severe Form
Abnormal dental morphology, Corneal opacity, Temporomandibular joint ankylosis, Gingival overgrow... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal dental morphology, Corneal opacity, Temporomandibular joint ankylosis, Gingival overgrow... ORPHA:217093
Fabry Disease
Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy, Thick lower lip vermilion ORPHA:324
Neurofibromatosis Type 1
Cataract, Corneal opacity, Ataxia, Chorioretinal coloboma, Lisch nodules, Heterochromia iridis ORPHA:636
Thrombocytopenia-Absent Radius Syndrome
Cataract, Corneal opacity, Micrognathia, Cleft palate, Malar flattening OMIM:274000
Limb Body Wall Complex
Corneal opacity, Cleft lip, Cleft palate, Lens subluxation, Iris coloboma ORPHA:2369
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Corneal opacity, Abnormal dental enamel morphology, Keratitis, Corneal erosion, Cheilitis, Uveiti... ORPHA:2273
Wiedemann-Rautenstrauch Syndrome
Natal tooth, Thin upper lip vermilion, Cataract, Corneal opacity, Ataxia, Abnormality of the dent... ORPHA:3455
Familial Thoracic Aortic Aneurysm And Aortic Dissection
High, narrow palate, Retrognathia, Abnormality iris morphology ORPHA:91387
Fraser Syndrome 1
Corneal opacity, Dental crowding, Cleft upper lip, Dental malocclusion, Cleft palate, Difficulty ... OMIM:219000
Mucopolysaccharidosis Type 2
Corneal opacity, Temporomandibular joint ankylosis, Gingival overgrowth, Macroglossia, Thick verm... ORPHA:580
Tangier Disease
Corneal opacity ORPHA:31150
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Broad-based gait, Corneal opacity, Limb ataxia ORPHA:2072
Gaucher Disease
Corneal opacity, Gingival bleeding, Ataxia ORPHA:355
Roberts-Sc Phocomelia Syndrome
Cataract, Corneal opacity, Micrognathia, Cleft upper lip, Cleft palate, High palate, Opacificatio... OMIM:268300
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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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

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