IRIDOGONIODYSGENESIS, TYPE 1

General Information (adopted from Orphanet):

Synonyms, Signs: GLAUCOMA IRIDOGONIODYSPLASIA, FAMILIAL, INCLUDED
IGDA IRIS HYPOPLASIA WITH GLAUCOMA, INCLUDED
IRIDOGONIODYSGENESIS ANOMALY, AUTOSOMAL DOMINANT
IRID1
Number of Symptoms 9
OrphanetNr:
OMIM Id: 601631
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0007990) Hypoplastic iris stroma 9 / 7739
2
(HPO:0007905) Abnormal iris vasculature 3 / 7739
3
(HPO:0000557) Buphthalmos 16 / 7739
4
(OMIM) Absent iris stromal pattern 1 / 7739
5
(OMIM) Iridocorneal angle maldevelopment 1 / 7739
6
(HPO:0001320) Cerebellar vermis hypoplasia 57 / 7739
7
(OMIM) Goniodysgenesis 2 / 7739
8
(HPO:0002280) Enlarged cisterna magna 12 / 7739
9
(OMIM) Dark iris color 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Autosomal dominant iridogoniodysgenesis type 1, which is characterized by iris hypoplasia, goniodysgenesis, and juvenile glaucoma, is the result of aberrant migration or terminal induction of the neural crest cells involved in the formation of the anterior segment of ...
Clinical Description OMIM Berg (1932) together with Jerndal (1970) reported observations of iridogoniodysgenesis anomaly (IGDA) in 11 generations of a Swedish family, in which 25 of 55 persons examined by an ophthalmologist were found to be affected. All affected members showed ...
Molecular genetics OMIM In a patient with primary congenital glaucoma who had a balanced translocation between 6p25 and 13q22, Nishimura et al. (1998) cloned the chromosomal breakpoints and identified 2 candidate genes, 1 of which was the FKHL7 (FOXC1) gene. In ...