Disease #02923

Official abbreviation ASGD-2
Name dysgenesis, anterior segment, type 2 (ASGD-2, aphakia, congenital primary)
OMIM ID 610256
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 9
Phenotype entries for this disease 9
Associated with 1 gene FOXE3
Associated tissues -
Disease features -
Remarks autosomal recessive


Individuals

9 entries on 1 page. Showing entries 1 - 9.
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00064992 - PubMed: Valleix 2006 3-generation family, 3 affecteds (F, 2M), unaffected heterozygous carrier parents F;M yes France - - 0 - - ASGD-2 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 - - 0 - - ASGD-2 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 - - 0 - - ASGD-2 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 - - 0 - - ASGD-2 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 - - 0 - - ASGD-2 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 - 0 - - ASGD-2 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 - - 0 - - ASGD-2 congenital primary aphakia FOXE3 FOXE3 1 5 Deepti Anand
00065011 - PubMed: Ullah 2016 6-generation family, 6 affecteds (3F, 3M), unaffected hetereozygous carrier parents F;M yes Pakistan - - 0 - - ASGD-2 congenital primary aphakia, anophthalmia, corneal opacity FOXE3 FOXE3 1 6 Deepti Anand
00065013 - PubMed: Ullah 2016 6-generation family, 4 affecteds (2F, 2M), unaffected heterozygous carrier parents F;M yes Pakistan - - 0 - - ASGD-2 see paper; ..., FOXE3 FOXE3 1 4 Johan den Dunnen
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