Epithelial recurrent erosion dystrophy
Synonyms: Dystrophia Helsinglandica · Dystrophia Smolandiensis · ERED · Recurrent hereditary corneal erosions
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
Epithelial recurrent erosion dystrophy (ERED) is a rare form of superficial corneal dystrophy characterized by recurrent episodes of epithelial erosions from childhood in the absence of associated diseases, with occasional impairment of vision.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Epithelial recurrent erosion dystrophy | Dystrophia Helsinglandica · Dystrophia Smolandiensis · ERED · Recurrent hereditary corneal erosions |
| fr | Dystrophie par érosions épithéliales récurrentes | DEER · Dystrophia Helsinglandica · Dystrophia Smolandiensis · ERED · Erosions épithéliales récurrentes héréditaires |
| de | Rezidivierende Epithelerosions-Dystrophie | Dystrophia Helsinglandica · Dystrophia Smolandiensis · ERED · Hornhauterosion, hereditäre rekurrente · Rezidivierende hereditäre Hornhauterosionen |
| es | Distrofia por erosiones epiteliales recurrentes | Distrofia Helsinglandica · Distrofia Smolandiensis · ERED · Erosiones corneales hereditarias recurrentes |
| it | Distrofia da erosione epiteliale ricorrente | Distrofia Helsinglandica · Distrofia Smolandiensis · ERED · Erosioni corneali ereditarie ricorrenti |
| nl | Epitheliale terugkerende erosiedystrofie | Dystrophia Helsinglandica · Dystrophia Smolandiensis · ERED · Terugkerende erfelijke cornea-erosies |
| pt | Distrofia de erosão epitelial recorrente | ERED · Erosão corneana hereditária recorrente · Distrofia Helsinglandica · Distrofia Smolandiensis |
| pl | Dystrofia nawracających ubytków nabłonka | Dystrophia Helsinglandica · Dystrophia Smolandiensis · ERED · Nawracajace dziedziczne ubytki rogówki |
| cs | Rekurentní erozivní dystrofie epitelu rohovky | Dystrophia Helsinglandica · Dystrophia Smolandiensis · ERED · Dědičné recidivující eroze rohovky |
| uk | Епітеліальна рецидивуюча ерозивна дистрофія | Дистрофія Гельсінгландії · Смоленська дистрофія · ERED · Рецидивуючі спадкові ерозії рогівки |
| zh | 上皮反复糜烂性营养不良 | 复发性遗传性角膜糜烂 |
| tr | Epitelyal tekrarlayan erozyon distrofisi | ERED · Smolandiensis distrofisi · Helsinglandica distrofisi · Tekrarlayan kalıtsal kornea erozyonları |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 122400 | E | validated | |
| ICD-10 | H18.5 | NTBT | attributed | validated |
| ICD-11 | 9A70.Y | NTBT | index | validated |
| MONDO | 0007381 | E | validated | |
| MeSH | C565155 | E | validated | |
| UMLS | C1852551 | 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 |
|---|---|---|---|---|---|---|---|---|
| COL17A1 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:2194 | ENSG00000065618 | 113811 | 10q25.1 | collagen type XVII alpha 1 chain | 25676728[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 186 cases | Worldwide | Case(s) | Validated | 18700883[PMID]_6887751[PMID]_12035594[PMID]_18700883[PMID]_187789[PMID]_19710953[PMID]_20597871[PMID] | |
| Point prevalence | Unknown | — | 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
11 annotations · validated 2021-05-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001131 | Corneal dystrophy | |
| HP:0200026 | Ocular pain | |
| HP:0000529 | Progressive visual loss | |
| HP:0000495 | Recurrent corneal erosions | |
| HP:0008039 | Subepithelial corneal opacities | |
| Frequent (79-30%) | ||
| HP:0000622 | Blurred vision | |
| HP:0000559 | Corneal scarring | |
| HP:0031792 | Irregular astigmatism | |
| HP:0000613 | Photophobia | |
| Occasional (29-5%) | ||
| HP:0009926 | Epiphora | |
| HP:0001097 | Keratoconjunctivitis sicca | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 30760455[PMID]_31301286[PMID]_26786512[PMID]_29708937[PMID]_32491788[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/293381
- This record as JSON: /data/d/293381.json