Disease #02923 (ASGD2 (dysgenesis, anterior segment, type 2), OMIM:610256)

Official abbreviation ASGD2
Name dysgenesis, anterior segment, type 2
OMIM ID 610256
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 16
Phenotype entries for this disease 16
Associated with 1 gene FOXE3
Associated tissues -
Disease features -
Remarks autosomal recessive
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2025-11-26 23:03:21 +01:00 (CET)


Individuals

16 entries on 1 page. Showing entries 1 - 16.
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00064992 - PubMed: Valleix 2006 3-generation family, 3 affecteds (F, 2M), unaffected heterozygous carrier parents F;M yes France - - - - - ASGD2 congenital primary aphasia as primary phenotype, aplasia of the anterior segment of the eye, iris absent, microphthalmia, retinal dysplasia FOXE3 FOXE3 1 3 Deepti Anand
00064993 - PubMed: Iseri 2009, Journal: Iseri 2009 7-generation family, 6 affecteds (F, 5M), unaffected hetereozygous carrier parents F;M yes Pakistan - - - - - ASGD2 congenital primary aphasia, glaucoma, microcornea, Peters anomaly, sclerocornea FOXE3 FOXE3 1 6 Deepti Anand
00064994 - PubMed: Iseri 2009, Journal: Iseri 2009 4-generation family, 3 affecteds (F, 2M), unaffected hetereozygous carrier parents F;M yes Pakistan - - - - - ASGD2 congenital primary aphakia, microphthalmia, corneal opacity, iris absent FOXE3 FOXE3 1 3 Deepti Anand
00064995 - PubMed: Iseri 2009, Journal: Iseri 2009 2-generation family, 5 affecteds (4F, M) F;M - Pakistan - - - - - ASGD2 congenital cataract and primary aphasia, coloboma, microphthalmia, sclerocornea, Peters anomaly FOXE3 FOXE3 1 5 Deepti Anand
00064997 - PubMed: Ali 2010 8-generation family, 7 affecteds (3F, 4M), unaffected heterozygous carrier parents/sibs F;M yes Pakistan - - - - - ASGD2 congenital primary aphasia, microphthalmia, sclerocornea FOXE3 FOXE3 1 7 Deepti Anand
00064999 - PubMed: Ali 2010 6-generation family, 9 affecteds (4F, 5M), unaffected heterozygous carrier parents/sibs F;M yes Mexico Mexican, Tlaxcala - - - - ASGD2 congenital primary aphakia, microphthalmia, sclerocornea FOXE3 FOXE3 1 9 Deepti Anand
00065000 - PubMed: Anjum 2010 6-generation family, 5 affecteds (5F), unaffected hetereozygous carrier parents/sibs F yes Pakistan - - - - - ASGD2 congenital primary aphakia FOXE3 FOXE3 1 5 Deepti Anand
00065011 FamMA143 PubMed: Ullah 2016 6-generation family, 6 affecteds (3F, 3M), unaffected hetereozygous carrier parents F;M yes Pakistan - - - - - ASGD2 congenital primary aphakia, anophthalmia, corneal opacity FOXE3 FOXE3 1 6 Deepti Anand
00065013 FamMA119 PubMed: Ullah 2016 6-generation family, 4 affecteds (2F, 2M), unaffected heterozygous carrier parents F;M yes Pakistan - - - - - ASGD2 see paper; ..., FOXE3 FOXE3 1 4 Johan den Dunnen
00468529 family PubMed: Doucette 2011 4-generation family, 11 affected (3F, 8M) F;M - Canada - - - - - ASGD2 see paper; ..., anterior segment dysgenesis, Peters anomaly FOXE3 FOXE3 1 11 Johan den Dunnen
00468563 Pat1 PubMed: Islam 2015 2-generation family, 1 affected, unaffected carrier mother - yes United Kingdom (Great Britain) Pakistan - - - - ASGD2 see paper; ..., primary aphakia, bilateral congenital corneal opacity, glaucoma; iridocorneal adhesion FOXE3 FOXE3 1 1 Johan den Dunnen
00468564 Pat2 PubMed: Islam 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents - yes United Kingdom (Great Britain) India - - - - ASGD2 see paper; ..., primary aphakia, bilateral congenital corneal opacity, glaucoma FOXE3 FOXE3 1 1 Johan den Dunnen
00468565 Pat3 PubMed: Islam 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents - - United Kingdom (Great Britain) - - - - - ASGD2 see paper; ..., primary aphakia, bilateral congenital corneal opacity, glaucoma FOXE3 FOXE3 2 1 Johan den Dunnen
00469699 FamPKCC139 PubMed: Khan 2016 4-generation family, 4 affected (F, 3M), unaffected heterozygous carrier parents F;M yes Pakistan - - - - - ASGD2 see paper; ..., Peters anomaly, bilateral corneal opacities, developmental glaucoma, iris–retina coloboma (3/4), anterior segment dysgenesis, iridolenticular adhesions, nystagmus (3/4); no skeletal abnormalities, no physical disabilities, no cardiovascular diseases, no intellectual disability FOXE3 FOXE3 1 4 Johan den Dunnen
00469702 family PubMed: Saboo 2017 5-generation family, 3 affected (2F. M), unaffected heterozygous carrier parents F;M yes India - - - - - ASGD2 see paper; ..., severe bilateral ocular dysgenesis, unilateral staphylomatous malformation, complex microphthalmos, bilateral aphakia, unilateral anterior staphyloma FOXE3 FOXE3 1 3 Johan den Dunnen
00469703 FamMA115 PubMed: Ullah 2016 6-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - ASGD2 see paper; ..., bilateral microphthalmia, corneal opacity, anterior segment dysgenesis FOXE3 FOXE3 1 2 Johan den Dunnen
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