Glaucoma 3, primary congenital, a

Preferred Label : Glaucoma 3, primary congenital, a;

Symbol : GLC3A;

CISMeF acronym : GLC3A; GLC3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Glaucoma, congenital; GLC3; BUPHTHALMOS;

Included titles and symbols : Glaucoma, primary open angle, adult-onset; Glaucoma, primary open angle, juvenile-onset;

Description : Primary congenital glaucoma is the most common type of childhood glaucoma, with autosomal recessive inheritance and an incidence ranging from 1 in 30,000 to 1 in 1,250. Signs of the disease include early onset (birth to 3 years of age), increased intraocular pressure, increased corneal diameter, enlarged globe, Haab striae (breaks in Descemet membrane), corneal edema, and optic nerve head cupping. Congenital glaucoma is a chronic disease and a serious cause of blindness worldwide (summary by Azmanov et al., 2011). - Genetic Heterogeneity of Primary Congenital Glaucoma Primary congenital glaucoma-3B (GLC3B; 600975) maps to chromosome 1p36.2-p36.1. GLC3C (613085) maps to chromosome 14q24.3. GLC3D (613086) is caused by mutation in the LTBP2 gene (602091) located on chromosome 14q24 but outside the locus for GLC3C.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the cytochrome P450, subfamily I, dioxin-inducible, polypeptide 1 gene (CYP1B1, 601771.0001);

Prefixed ID : #231300;

Details

Origin ID

231300;

UMLS CUI

C1856439;

Automatic exact mappings (from CISMeF team)
- Buphthalmos [ICD-11 Subcategory]
- Buphthalmos [ICD-9 code]
- Buphthalmos (finding) [SNOMED CT concept]
- CYP1B1 wt Allele [NCIt concept]
- Congenital Glaucoma [NCIt concept]
- Congenital glaucoma [ORDO Disease]
- Congenital glaucoma [ICD-10 Sub-category]
- Congenital glaucoma (disorder) [SNOMED CT concept]
- hydrophthalmos [MeSH Descriptor]
- symbol withdrawn GLC3A [HGNC gene]
Currated CISMeF NLP mapping
- Buphthalmos [HPO term]
- Buphthalmos [MedDRA LLT]
- Buphthalmos [HRDO Sign]
- Primary Congenital Glaucoma 3A [NCIt concept]
- buphthalmos [Disease (Nov.)]
- buphthalmos [DO Concept]
- glaucoma 3, primary congenital, A [MeSH concept]
- glaucoma 3, primary congenital, A [MeSH Supplementary Concept]
DO Cross reference
- buphthalmos [DO Concept]
Genes related to phenotype
- Cytochrome p450, subfamily I, polypeptide 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Buphthalmos [HPO term]
- Infantile onset [HPO term]
- Late onset congenital glaucoma [HPO term]
- Ocular hypertension [HPO term]
ORDO concept(s)
- Congenital glaucoma [ORDO Disease]
- Juvenile glaucoma [ORDO Disease]
See also inter- (CISMeF)
- Congenital glaucoma [ICD-10 Sub-category (who)]
- Congenital glaucomas [MedDRA High Level Term]
- Developmental glaucoma [HPO term]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Primary Congenital Glaucoma 3A [NCIt concept]
- glaucoma 3, primary congenital, A [MeSH Supplementary Concept]
- glaucoma 3, primary congenital, A [MeSH concept]
Validated automatic mappings to BTNT
- Congenital glaucoma [MedDRA LLT]
- Glaucoma congenital [MedDRA LLT]
Validated automatic mappings to NTBT
- Congenital Glaucoma [NCIt concept]
- Congenital glaucoma [ORDO Disease]
- Pediatric-onset glaucoma of genetic origin [ORDO Disease]

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