Anterior Segment Dysgenesis disorders refer to a cliniically and genetically heterogenous group of disorders that affect the cornea, iris, and lens. ASGD1 is caused by mutations in the PITX3 gene.
Congenital malformations, deformations and chromosomal abnormalities
Congenital malformations of eye, ear, face and neck
Autosomal dominant; Autosomal recessive?
10q24.32
Anterior Segment Dysgenesis disorders refer to a cliniically and genetically heterogenous group of disorders that affect the cornea, iris, and lens. ASGD1 is caused by mutations in the PITX3 gene.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 107250.1.1 | Saudi Arabia | Female | Yes | Yes | Microphthalmia; Ocular anterior segment... Microphthalmia; Ocular anterior segment dysgenesis; Sclerocornea;  | NM_005029.3:c.640_656del | Homozygous | Autosomal, Recessive | Aldamesh et al, 2011; Patel et al. 2018 | First report of AR t... |