Glaucoma, primary open angle

Preferred Label : Glaucoma, primary open angle;

Symbol : POAG;

CISMeF acronym : GLC1E; POAG;

Type : Phenotype, molecular basis known;

Included titles and symbols : Glaucoma 1, open angle, e; Glaucoma, primary open angle, adult-onset; GLC1E;

Description : Quigley (1993) reviewed adult-onset primary open angle glaucoma, which combines a particular abnormal appearance of the optic disc (optic nerve head) with a slowly progressive loss of visual sensitivity. Many patients with glaucoma have intraocular pressures above the normal range, although this cannot be considered part of the definition of the disease, since some patients have normal intraocular pressures. Changes in the optic disc, either inherited or acquired, contribute to the development of the disorder, which leads to visual loss from increasing nerve fiber layer atrophy. Quigley et al. (1994) stated that POAG should be reviewed as a multifactorial disorder. - Genetic Heterogeneity of Primary Open Angle Glaucoma Other forms of primary open angle glaucoma include GLC1A (137750), caused by mutation in the MYOC gene (601652) on chromosome 1q24.3-q25.2; GLC1B (606689) on chromosome 2cen-q13; GLC1C (601682) on chromosome 3q21-q24; GLC1D (602429) on chromosome 8q23; GLC1F (603383), caused by mutation in the ASB10 gene on chromosome 7q36; GLC1G (609887), caused by mutation in the WDR36 gene (609669) on chromosome 5q22; GLC1H (611276) on chromosome 2p16-p15; GLC1I (609745) on chromosome 15q11-q13; GLC1J (608695) on chromosome 9q22; GLC1K (608696) on chromosome 20p12; GLC1L (see 137750) on chromosome 3p22-p21; GLC1M (610535) on chromosome 5q22; GLC1N (611274) on chromosome 15q22-q24; GLC1O (613100), caused by mutation in the NTF4 gene (162662) on chromosome 19q13.3; GLC1P (177700), caused by an approximately 300-kb duplication on chromosome 12q24, most likely involving the TBK1 gene (604834). Nail-patella syndrome (NPS; 161200), which is caused by mutation in the LMX1B gene (602575) on chromosome 9q34, has open angle glaucoma as a pleiotropic feature. - Other Forms of Glaucoma For a general description and a discussion of genetic heterogeneity of congenital forms of glaucoma, see GLC3A (231300). See 606657 for a discussion of normal tension glaucoma (NTG) or normal pressure glaucoma (NPG), a subtype of POAG.;

Inheritance : Autosomal dominant;

Prefixed ID : #137760;

Details

Origin ID

137760;

UMLS CUI

C0339573;

Automatic exact mappings (from CISMeF team)
- OPTN wt Allele [NCIt concept]
- Pediatric-onset glaucoma of genetic origin [ORDO Disease]
- Primary open angle glaucoma [ICD-9 code]
- glaucoma 1, open angle, E [MeSH concept]
- glaucoma 1, open angle, E [MeSH Supplementary Concept]
- glaucoma, open-angle [MeSH Descriptor]
Currated CISMeF NLP mapping
- Open angle glaucoma [HPO term]
- Open-angle glaucoma [ICD-10 Sub-category]
- Open-angle glaucoma [ICD-9 code]
- Primary Open Angle Glaucoma [NCIt concept]
- Primary open angle glaucoma [MedDRA LLT]
- Primary open angle glaucoma (disorder) [SNOMED CT concept]
- Primary open-angle glaucoma [ICD-11 Subcategory]
- Primary open-angle glaucoma [ICD-10 Sub-category (who)]
- glaucoma, primary open angle [MeSH concept]
- primary open angle glaucoma [Disease (Nov.)]
- primary open angle glaucoma [DO Concept]
- primary open angle glaucoma [SNOMED Notion]
DO Cross reference
- primary open angle glaucoma [DO Concept]
Genes related to phenotype
- Optineurin [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Myopia [HPO term]
- Open angle glaucoma [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Open angle glaucoma [HPO term]
- Primary Open Angle Glaucoma [NCIt concept]
- Primary open angle glaucoma [MedDRA LLT]
- Primary open angle glaucoma [ICD-9 code]
- Primary open angle glaucoma (disorder) [SNOMED CT concept]
- Primary open-angle glaucoma [ICD-10 Sub-category (who)]
- glaucoma, primary open angle [MeSH concept]
- primary open angle glaucoma [SNOMED Notion]
- primary open angle glaucoma [DO Concept]

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