Familial ocular anterior segment mesenchymal dysgenesis

General Information (adopted from Orphanet):

Synonyms, Signs: ANTERIOR SEGMENT OCULAR DYSGENESIS
ASOD
ASMD
Number of Symptoms 8
OrphanetNr: 88632
OMIM Id: 107250
ICD-10: Q13.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Nonsyndromic developmental defect of the eye
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
Rare eye disease due to a differentiation anomaly
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0000518) Cataract 454 / 7739
2
(HPO:0007957) Corneal opacity 84 / 7739
3
(HPO:0007759) Opacification of the corneal stroma 77 / 7739
4
(HPO:0007700) Anterior segment dysgenesis 5/44 [HPO] 15286169 IBIS 9 / 7739
5
(HPO:0001115) Posterior polar cataract 47/47 [HPO] 15286169 IBIS 8 / 7739
6
(OMIM) Normal/reduced visual acuity 1 / 7739
7
(OMIM) Abnormal cornea and lens histology 1 / 7739
8
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Hittner et al. (1981) identified a kindred of German descent in which autosomal dominant anterior segment mesenchymal dysgenesis with variable expression affected members of at least 8 generations. (Hittner (1981) preferred the designation 'anterior segment mesenchymal dysgenesis,' arguing ...
Molecular genetics OMIM - Mutation in PITX3

In affected members of the kindred with ASMD reported by Hittner et al. (1982), Semina et al. (1998) identified heterozygosity for a 17-bp insertion in the PITX3 gene (602669.0001). The mutation was ...