Meesmann Corneal Dystrophy malady
Categories: Genetic diseases, Rare diseases, Eye diseases
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 65UMLS, 36MeSH, 24GTR, 27ICD10, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources
Aliases & Descriptions for Meesmann Corneal Dystrophy:
Orphanet epidemiological data:51
meesmann corneal dystrophy:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases
ICD10: 28 27
Rare eye diseases
UniProtKB/Swiss-Prot:67 Corneal dystrophy, Meesmann: An autosomal dominant corneal disease characterized by fragility of the anterior corneal epithelium. Patients are usually asymptomatic until adulthood when rupture of the corneal microcysts may cause erosions, producing clinical symptoms such as photophobia, contact lens intolerance and intermittent diminution of visual acuity. Rarely, subepithelial scarring causes irregular corneal astigmatism and permanent visual impairment. Histological examination shows a disorganized and thickened epithelium with widespread cytoplasmic vacuolation and numerous small, round, debris-laden intraepithelial cysts.
MalaCards based summary: Meesmann Corneal Dystrophy, also known as mecd, is related to epithelial-stromal tgfbi dystrophy and corneal dystrophy, epithelial basement membrane, and has symptoms including punctate opacification of the corneaand corneal dystrophy. An important gene associated with Meesmann Corneal Dystrophy is KRT12 (Keratin 12). Affiliated tissues include eye, brain and kidney, and related mouse phenotype vision/eye.
NIH Rare Diseases:45 Meesmann corneal dystrophy is a rare genetic condition affecting the epithelial membrane of the cornea. a slit-lamp examination of the cornea shows diffuse clusters of tiny round cysts in the epithelial membrane. over time these cysts can rupture and cause erosions. the erosions may result in light sensitivity, redness, and pain. vision remains good in most, but not all, cases. meesmann corneal dystrophy can be caused by mutations in the krt3 or krt12 gene. it is inherited in an autosomal dominant fashion. last updated: 5/22/2015
Genetics Home Reference:23 Meesmann corneal dystrophy is an eye disease that affects the cornea, which is the clear front covering of the eye. This condition is characterized by the formation of tiny round cysts in the outermost layer of the cornea, called the corneal epithelium. This part of the cornea acts as a barrier to help prevent foreign materials, such as dust and bacteria, from entering the eye.
OMIM:49 Meesmann corneal dystrophy is a dominantly inherited disorder characterized by fragility of the anterior corneal... (122100) more...
Wikipedia:68 Meesmann corneal dystrophy, also Stocker-Holt dystrophy, is a type of corneal dystrophy and a keratin... more...
Interventional clinical trials:
MalaCards organs/tissues related to Meesmann Corneal Dystrophy:33
Eye, Brain, Kidney
Articles related to Meesmann Corneal Dystrophy:(show all 11)
UniProtKB/Swiss-Prot genetic disease variations for Meesmann Corneal Dystrophy:67 (show all 19)
Clinvar genetic disease variations for Meesmann Corneal Dystrophy:5
Search GEO for disease gene expression data for Meesmann Corneal Dystrophy.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet