Meesmann corneal dystrophy
Synonyms: Juvenile hereditary epithelial dystrophy of Meesmann · MECD
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
Meesmann corneal dystrophy (MECD) is a rare form of superficial corneal dystrophy characterized by distinct tiny bubble-like, round-to-oval punctate bilateral opacities in the central corneal epithelium, and to a lesser extent in the peripheral cornea, with little impact on vision.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Meesmann corneal dystrophy | Juvenile hereditary epithelial dystrophy of Meesmann · MECD |
| fr | Dystrophie cornéenne de Meesmann | Dystrophie épithéliale juvénile héréditaire de Meesmann · MECD |
| de | Meesmann-Hornhautdystrophie | Hornhautdystrophie, epitheliale juvenile, Typ Meesmann · MECD |
| es | Distrofia corneal de Meesmann | Distrofia epitelial hereditaria juvenil de Meesmann · MECD |
| it | Distrofia corneale di Meesmann | Distrofia epiteliale ereditaria giovanile di Messman · MECD |
| nl | Corneadystrofie van Meesmann | Juveniele erfelijke epitheliale dystrofie van Meesmann · MECD |
| pt | Distrofia corneana epitelial, juvenil, tipo Meesmann | |
| pl | Dystrofia rogówki Meesmanna | MECD · Młodzieńcza dziedziczna dystrofia nabłonkowa Meesmanna |
| cs | Meesmannova dystrofie rohovky | Meesmannova dystrofie (juvenilní hereditární epitelová dystrofie) · MECD |
| uk | Дистрофія рогівки Месманна | Ювенільна спадкова епітеліальна дистрофія Месмана · MECD |
| zh | Meesmann角膜营养不良 | 青少年遗传性Meesmann上皮营养不良 |
| tr | Meesmann kornea distrofisi | MECD · Meesmann'ın jüvenil kalıtsal epitel distrofisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 122100 | BTNT | validated | |
| OMIM | 618767 | BTNT | validated | |
| ICD-10 | H18.5 | NTBT | attributed | validated |
| ICD-11 | 9A70.Y | NTBT | index | validated |
| MONDO | 0007379 | E | validated | |
| MeSH | D053559 | E | validated | |
| UMLS | C0339277 | E | validated | |
| GARD | 9688 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:522562Genetic superficial corneal dystrophy
rare genetic diseases - ORPHA:98625Superficial corneal dystrophy
rare ophthalmic disorders
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KRT12 | Disease-causing germline mutation(s) in | Assessed | HGNC:6414 | ENSG00000187242 | 601687 | 17q21.2 | keratin 12 | 9171831[PMID] |
| KRT3 | Disease-causing germline mutation(s) in | Assessed | HGNC:6440 | ENSG00000186442 | 148043 | 12q13.13 | keratin 3 | 9171831[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 250 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98954
- This record as JSON: /data/d/98954.json