Corneal dystrophy, posterior polymorphous, 1

Preferred Label : Corneal dystrophy, posterior polymorphous, 1;

Symbol : PPCD1;

CISMeF acronym : CHED1; PPCD; PPCD1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : PPCD; Corneal dystrophy, hereditary polymorphous posterior; Maumenee corneal dystrophy; Posterior polymorphous corneal dystrophy; CHED1; Corneal endothelial dystrophy 1, autosomal dominant;

Description : Posterior polymorphous corneal dystrophy (PPCD) is a rare disorder involving metaplasia and overgrowth of corneal endothelial cells (Krafchak et al., 2005). In patients with PPCD, these cells manifest in an epithelial morphology and gene expression pattern, produce an aberrant basement membrane, and, sometimes, spread over the iris and nearby structures in a way that increases the risk for glaucoma. Symptoms can range from very aggressive to asymptomatic and nonprogressive, even within the same family. The age of diagnosis is, most often, in the second or third decade of life. - Genetic Heterogeneity of Posterior Polymorphous Corneal Dystrophy Other forms of PPCD include PPCD2 (609140), caused by mutation in the COL8A2 gene (120252) on chromosome 1p34.3, and PPCD3 (609141), caused by mutation in the ZEB1 gene (189909) on chromosome 10p.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the promoter of the OVO-like-2 gene (OVOL2, 616441.0001);

Prefixed ID : #122000;

Details

Origin ID

122000;

UMLS CUI

C1852555;

Automatic exact mappings (from CISMeF team)
- Congenital hereditary endothelial dystrophy type 1 (disorder) [SNOMED CT concept]
- Congenital hereditary endothelial dystrophy type I [ORDO Disease]
- collagen type VIII alpha 2 chain [ORDO Gene]
Currated CISMeF NLP mapping
- corneal dystrophy, posterior polymorphous, 1 [MeSH concept]
- corneal dystrophy, posterior polymorphous, 1 [MeSH Supplementary Concept]
- posterior polymorphous corneal dystrophy 1 [DO Concept]
DO Cross reference
- posterior polymorphous corneal dystrophy 1 [DO Concept]
Genes related to phenotype
- Ovo-like 2 [OMIM gene]
HPO term(s)
- Abnormal Descemet membrane morphology [HPO term]
- Abnormal corneal endothelium morphology [HPO term]
- Anterior synechiae of the anterior chamber [HPO term]
- Autosomal dominant inheritance [HPO term]
- Band keratopathy [HPO term]
- Corneal opacity [HPO term]
- Ectopia pupillae [HPO term]
- Epiphora [HPO term]
- Glaucoma [HPO term]
- Iris atrophy [HPO term]
- Photophobia [HPO term]
- Polymorphous posterior corneal dystrophy [HPO term]
- Thinning of Descemet membrane [HPO term]
- Uveal ectropion [HPO term]
ORDO concept(s)
- Congenital hereditary endothelial dystrophy type I [ORDO Disease]
- Posterior polymorphous corneal dystrophy [ORDO Disease]
See also inter- (CISMeF)
- Congenital hereditary endothelial dystrophy type II [ORDO Disease]
- corneal endothelial dystrophy type 2 [MeSH Supplementary Concept]
- visual system homeobox 1 [ORDO Gene]
- visual system homeobox 1 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Polymorphous posterior corneal dystrophy [HPO term]
- Posterior polymorphous corneal dystrophy [ORDO Disease]
- Posterior polymorphous corneal dystrophy (disorder) [SNOMED CT concept]
- corneal dystrophy, posterior polymorphous, 1 [MeSH concept]
- corneal dystrophy, posterior polymorphous, 1 [MeSH Supplementary Concept]
- polymorphous corneal dystrophy [SNOMED Notion]
Validated automatic mappings to NTBT
- Polymorphous posterior corneal dystrophy [HPO term]
- Posterior polymorphous corneal dystrophy [PASCAL descriptor]
- Posterior polymorphous corneal dystrophy [ICD-11 More detail]
- Posterior polymorphous corneal dystrophy [ORDO Disease]
- Posterior polymorphous corneal dystrophy (disorder) [SNOMED CT concept]
- polymorphous corneal dystrophy [SNOMED Notion]
- posterior polymorphous corneal dystrophy [DO Concept]

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