Anterior segment dysgenesis 3

Preferred Label : Anterior segment dysgenesis 3;

Symbol : ASGD3;

CISMeF acronym : ASGD3; IGDA; IRID1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Iris hypoplasia with glaucoma; Iridogoniodysgenesis, type 1; Iridogoniodysgenesis anomaly, autosomal dominant; IRID1; IGDA; Glaucoma iridogoniodysplasia, familial;

Description : 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 the eye (summary by Mears et al., 1996). - Genetic Heterogeneity of Iridogoniodysgenesis Another form of iridogoniodysgenesis (IRID2; 137600) can also be caused by mutation in the PITX2 gene (601542) on chromosome 4q25-q26. See 308500 for discussion of an apparently X-linked recessive form of iris hypoplasia and glaucoma. See 609515 for a form of iridogoniodysgenesis associated with skeletal anomalies.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the forkhead, Drosophila, homolog-like 7 gene (FOXC1, 601090.0001);

Prefixed ID : #601631;

Details

Origin ID

601631;

UMLS CUI

C1839928;

Automatic exact mappings (from CISMeF team)
- FOXC1 wt Allele [NCIt concept]
- Interstitial granulomatous dermatitis with arthritis [ORDO Disease]
- anterior segment dysgenesis 3 [DO Concept]
- forkhead box C1 [ORDO Gene]
- glaucoma iridogoniodysplasia, familial [MeSH concept]
- glaucoma iridogoniodysplasia, familial [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Anterior segment developmental anomaly without extraocular manifestations [ORDO Disease]
- Iridogoniodysgenesis type1 [MeSH concept]
- iridogoniodysgenesis anomaly [Disease (Nov.)]
- iridogoniodysgenesis syndrome [DO Concept]
- iridogoniodysgenesis type1 [MeSH Supplementary Concept]
DO Cross reference
- anterior segment dysgenesis 3 [DO Concept]
- iridogoniodysgenesis syndrome [DO Concept]
Genes related to phenotype
- Forkhead box c1 [OMIM gene]
HPO term(s)
- Abnormal iris vasculature [HPO term]
- Autosomal dominant inheritance [HPO term]
- Axenfeld anomaly [HPO term]
- Cerebellar vermis hypoplasia [HPO term]
- Ectopia pupillae [HPO term]
- Enlarged cisterna magna [HPO term]
- Glaucoma [HPO term]
- Hypoplastic iris stroma [HPO term]
- Peters anomaly [HPO term]
- Posterior embryotoxon [HPO term]
- Rieger anomaly [HPO term]
ORDO concept(s)
- Axenfeld anomaly [ORDO Disease]
- Rieger anomaly [ORDO Disease]
See also inter- (CISMeF)
- Iris hypoplasia and glaucoma [MeSH concept]
- iris hypoplasia and glaucoma [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Iris hypoplasia and glaucoma [MeSH concept]
- iris hypoplasia and glaucoma [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients