Details of Disease | DrugMAP

General Information of Disease (ID: DISMRYNA)

Disease Name	Corneal dystrophy-perceptive deafness syndrome
Synonyms	Cdpd1; corneal dystrophy and sensorineural deafness; congenital corneal dystrophy, progressive sensorineural deafness; corneal dystrophy and perceptive deafness; Harboyan syndrome; CDPD; corneal endothelial dystrophy and perceptive deafness; corneal dystrophy with progressive deafness
Definition	Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy (CHED) with progressive, postlingual sensorineural hearing loss.
Disease Hierarchy	DIS6SVEE: Syndromic disease DISYKSRF: Genetic disease DISMRYNA: Corneal dystrophy-perceptive deafness syndrome
Disease Identifiers	MONDO ID MONDO_0009015 MESH ID C535473 UMLS CUI C1857572 OMIM ID 217400 MedGen ID 387858 Orphanet ID 1490 SNOMED CT ID 720749004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC4A11	DTH2J1G	Strong	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC4A11	OTMMNQ2E	Strong	Autosomal recessive	[1]
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References

1	Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy. J Med Genet. 2007 May;44(5):322-6. doi: 10.1136/jmg.2006.046904. Epub 2007 Jan 12.