KEGG DISEASE: Meesmann corneal dystrophy

KEGG

DISEASE: Meesmann corneal dystrophy

Entry

H00726                      Disease

Name

Meesmann corneal dystrophy

Description

Meesmann corneal dystrophy is an early-onset disorder of the corneal epithelium caused by heterozygous mutations in KRT3 or KRT12 gene. It presents as ocular irritation but some patients may remain asymptomatic for many years. Characteristic intraepithelial cysts on the anterior cornea are observed. Most cases are inherited as autosomal dominant traits.

Category

Nervous system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
09 Diseases of the visual system
  Disorders of the eyeball anterior segment
   Disorders of the cornea
    9A70  Hereditary corneal dystrophies
     H00726  Meesmann corneal dystrophy

Pathway

Estrogen signaling pathway

Gene

(MECD1) KRT12 [HSA:3859] [KO:K07604]
(MECD2) KRT3 [HSA:3850] [KO:K07605]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Smith F

Title

The molecular genetics of keratin disorders.

Journal

Am J Clin Dermatol 4:347-64 (2003)
DOI:10.2165/00128071-200304050-00005

Reference

Authors

Ehlers N, Hjortdal J, Nielsen K, Thiel HJ, Orntoft T

Title

Phenotypic variability in Meesmann's dystrophy: clinical review of the literature and presentation of a family genetically identical to the original family.

Journal

Acta Ophthalmol 86:40-4 (2008)
DOI:10.1111/j.1600-0420.2007.00931.x

Reference

PMID:9171831 (MECD1 MECD2)

Authors

Irvine AD, Corden LD, Swensson O, Swensson B, Moore JE, Frazer DG, Smith FJ, Knowlton RG, Christophers E, Rochels R, Uitto J, McLean WH

Title

Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy.

Journal

Nat Genet 16:184-7 (1997)
DOI:10.1038/ng0697-184

LinkDB

» Japanese version

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