Epithelial basement membrane dystrophy
Synonyms: Anterior basement membrane dystrophy · Cogan microcystic epithelial dystrophy · EBMD · Map-dot-fingerprint dystrophy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Status
- active
A rare corneal dystrophy characterized by thickened, redundant sheets of basement membrane extending into the corneal epithelium, as well as intraepithelial lacunae filled with cellular debris, together presenting as a pattern of ''maps'', ''dots'', and ''fingerprints'' on slit-lamp examination. Patients may be asymptomatic or present with recurrent episodes of painful corneal erosions with variable visual impairment, typically beginning after the age of thirty. The condition is bilateral and may be inherited in an autosomal dominant manner.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Epithelial basement membrane dystrophy | Anterior basement membrane dystrophy · Cogan microcystic epithelial dystrophy · EBMD · Map-dot-fingerprint dystrophy |
| fr | Dystrophie cornéenne de la membrane basale | Dystrophie en empreintes digitales · Dystrophie épithéliale microkystique de Cogan · Dystrophie cornéenne de la membrane basale épithéliale |
| de | Basalmembrandystrophie, epitheliale | Basalmembrandystrophie, anteriore · EBMD · Epitheldystrophie, mikrozystische, Cogan · Map-Dot-Fingerprint-Dystrophie |
| es | Distrofia de la membrana basal epitelial | Distrofia de la membrana basal anterior · Distrofia epitelial microquística de Cogan · Distrofia mapa-punto-huella dactilar · EBMD |
| it | Distrofia epiteliale della membrana basale | |
| nl | Epitheliale basale membraan-dystrofie | Anterieure basale membraan-dystrofie · EBMD · Map-dot-fingerprint dystrofie · Microcystische epitheliale dystrofie van Cogan |
| pt | Distrofia corneana, microquística | |
| pl | Mikrotorbielowata dystrofia rogówki | = en |
| cs | Mikrocystická dystrofie rohovky | = en |
| uk | Дистрофія епітеліальної базальної мембрани | Дистрофія передньої базальної мембрани · Мікрокістозна епітеліальна дистрофія Когана · EBMD · Картографічна точкова дактилоскопічна дистрофія |
| zh | 上皮基底膜营养不良 | Cogan微囊性上皮营养不良 |
| tr | Epitel bazal membran distrofisi | EBMD · Harita-nokta parmak izi distrofisi · Anterior bazal membran distrofisi · Cogan mikrokistik epitel distrofisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 121820 | E | validated | |
| ICD-10 | H18.5 | NTBT | attributed | validated |
| ICD-11 | 9A70.Y | NTBT | index | validated |
| MONDO | 0007375 | E | validated | |
| MeSH | C535477 | E | validated | |
| UMLS | C0521723 | E | validated | |
| GARD | 9732 | 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
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TGFBI | Disease-causing germline mutation(s) in | Assessed | HGNC:11771 | ENSG00000120708 | 601692 | 5q31.1 | transforming growth factor beta induced | 16652336[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98956
- This record as JSON: /data/d/98956.json