Anterior Segment Dysgenesis 3

Alternative Names

ASGD3
Iridiogoniodysgenesis, Type 1
IRID1
Iridogoniodysgenesis Anomaly, Autosomal Dominant
IGDA
Iris Hypoplasia with Glaucoma
Glaucoma iridogoniodesplasia, Familial

Associated Genes

Forkhead Box C1

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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of eye, ear, face and neck

OMIM Number

601631

Mode of Inheritance

Autosomal dominant

Gene Map Locus

6p25.3

Description

Anterior segment dysgeneses (ASGD or ASMD) are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. [From OMIM]

Epidemiology in the Arab World

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Lebanon

Subject ID	Country	Sex	Family History	Parental Consanguinity	HPO Terms	Variant	Zygosity	Mode of Inheritance	Reference	Remarks
601631.1.1	Lebanon	Female	Yes	Yes	Primary congenital glaucoma; Aniridia; ... Primary congenital glaucoma; Aniridia; Ventricular septal defect	NM_001453.3:c.379C>T	Heterozygous	Autosomal, Dominant	Khalil et al, 2017
601631.1.2	Lebanon	Male	Yes	Yes	Primary congenital glaucoma; Aniridia Primary congenital glaucoma; Aniridia	NM_001453.3:c.379C>T	Heterozygous	Autosomal, Dominant	Khalil et al, 2017	Sibling of 601631.1....
601631.1.3	Lebanon	Female	Yes	Yes	Primary congenital glaucoma; Aniridia; ... Primary congenital glaucoma; Aniridia; Congestive heart failure; ventricular septal defect;	NM_001453.3:c.379C>T	Heterozygous	Autosomal, Dominant	Khalil et al, 2017	Sibling of 601631.1....