Megalocornea - CISMeF

Preferred Label : Megalocornea;

Symbol : MGC1;

CISMeF acronym : MGC1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : MGCN;

Description : Megalocornea is an inherited eye disorder in which the corneal diameter is bilaterally enlarged (greater than 13 mm) without an increase in intraocular pressure. It may also be referred to as 'anterior megalophthalmos,' since the entire anterior segment is larger than normal. Features of megalocornea in addition to a deep anterior chamber include astigmatic refractive errors, atrophy of the iris stroma, miosis secondary to decreased function of the dilator muscle, iridodonesis, and tremulousness, subluxation, or dislocation of the lens. Whereas most affected individuals exhibit normal ocular function, complications include cataract development and glaucoma following lenticular dislocation or subluxation. X-linked recessive inheritance is the most common pattern, accounting for the male preponderance of the disorder (summary by Skuta et al., 1983). Megalocornea sometimes occurs as part of the Marfan syndrome (154700). - Genetic Heterogeneity of Megalocornea Autosomal recessive megalocornea has been reported (249300).;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the chordin-like-1 gene (CHRDL1, 300350.0001);

Prefixed ID : #309300;

Details

Origin ID

309300;

UMLS CUI

C5574682;

Automatic exact mappings (from CISMeF team)
- Megalocornea [ICD-11 More detail]
- symbol withdrawn MGC1 [HGNC gene]
Currated CISMeF NLP mapping
- Isolated congenital megalocornea [ORDO Disease]
- Macrocornea [MedDRA Preferred Term]
- Megalocornea [PASCAL descriptor]
- Megalocornea [HPO term]
- Megalocornea [HRDO Sign]
- Megalocornea (disorder) [SNOMED CT concept]
- corneal enlargement [Disease (Nov.)]
- macrocornea [SNOMED Notion]
- megalocornea [DO Concept]
- megalocornea [MeSH concept]
- megalocornea [MeSH Supplementary Concept]
DO Cross reference
- megalocornea [DO Concept]
Genes related to phenotype
- Chordin-like 1 [OMIM gene]
HPO term(s)
- Astigmatism [HPO term]
- Cataract [HPO term]
- Corneal arcus [HPO term]
- Decreased corneal thickness [HPO term]
- Deep anterior chamber [HPO term]
- Glaucoma [HPO term]
- Iridodonesis [HPO term]
- Iris transillumination defect [HPO term]
- Lens subluxation [HPO term]
- Megalocornea [HPO term]
- Miosis [HPO term]
- Mosaic corneal dystrophy [HPO term]
- Reduced visual acuity [HPO term]
- Retinal detachment [HPO term]
- X-linked recessive inheritance [HPO term]
Not associated HPO term(s)
- Abnormal intraocular pressure [HPO term]
ORDO concept(s)
- Isolated congenital megalocornea [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital keratoglobus (disorder) [SNOMED CT concept]
- Isolated congenital megalocornea [ORDO Disease]
- Macrocornea [MedDRA Preferred Term]
- Megalocornea [HPO term]
- Megalocornea [HRDO Sign]
- Megalocornea [PASCAL descriptor]
- Megalocornea (disorder) [SNOMED CT concept]
- corneal enlargement [Disease (Nov.)]
- macrocornea [SNOMED Notion]
- megalocornea [MeSH Supplementary Concept]
- megalocornea [MeSH concept]
- megalocornea [DO Concept]

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