Meesmann corneal dystrophy
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CORNEAL DYSTROPHY, JUVENILE EPITHELIAL, OF MEESMANN CORNEAL DYSTROPHY, MEESMANN EPITHELIAL MEESMANN CORNEAL DYSTROPHY MECD Juvenile hereditary epithelial dystrophy of Meesmann |
| Number of Symptoms | 7 |
| OrphanetNr: | 98954 |
| OMIM Id: |
122100
|
| ICD-10: |
H18.5 |
| UMLs: |
C0339277 |
| MeSH: |
D053559 |
| MedDRA: |
|
| Snomed: |
1674008 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Superficial corneal dystrophy
-Rare eye disease -Rare genetic disease |
Symptom Information:
|
|
(HPO:0007856) | Punctate opacification of the cornea | 2 / 7739 | ||||
|
|
(HPO:0001131) | Corneal dystrophy | 56 / 7739 | ||||
|
|
(HPO:0003680) | Nonprogressive disorder | 23 / 7739 | ||||
|
|
(OMIM) | Fine punctate corneal opacities | 1 / 7739 | ||||
|
|
(OMIM) | Vision rarely seriously impaired | 1 / 7739 | ||||
|
|
(OMIM) | Nonprogressive corneal dystrophy | 1 / 7739 | ||||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Clinical Description OMIM |
Meesmann corneal epithelial dystrophy was originally described in Germany by Meesmann and Wilke (1939) and later documented by Stocker and Holt (1954, 1955) in descendants of German immigrants in the US. The condition usually appears in the first ... |
| Molecular genetics OMIM |
In affected members of the original German kindred reported by Meesmann and Wilke (1939), Irvine et al. (1997) identified heterozygosity for a mutation in the KRT12 gene (601687.0001). In affected members of pedigrees in Northern Ireland, they identified ... |