ORPHA:293621
X-linked endothelial corneal dystrophy
Synonyms: XECD
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
X-linked endothelial corneal dystrophy (XECD) is a rare subtype of posterior corneal dystrophy characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked endothelial corneal dystrophy | XECD |
| fr | Dystrophie cornéenne endothéliale liée à l'X | = en |
| de | Endothel-Hornhautdystrophie, X-chromosomale | = en |
| es | Distrofia corneal endotelial ligada al cromosoma X | = en |
| it | Distrofia corneale endoteliale legata all'X | = en |
| nl | X-gebonden endotheliale corneadystrofie | X-gebonden endotheliale hoornvliesdystrofie · XECD |
| pt | Distrofia corneana endotelial ligada ao X | = en |
| pl | Dystrofia śródbłonka rogówki sprzężona z chromosomem X | = en |
| cs | X-vázaná dystrofie endotelu rohovky | = en |
| uk | Х-зчеплена ендотеліальна дистрофія рогівки | = en |
| zh | x连锁内皮角膜营养不良 | X连锁角膜内皮营养不良 |
| tr | X'e bağlı endotelyal kornea distrofisi | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300779 | E | validated | |
| ICD-10 | H18.5 | NTBT | attributed | validated |
| ICD-11 | 9A70.0 | NTBT | index | validated |
| MONDO | 0010426 | E | validated | |
| MeSH | C567587 | E | validated | |
| UMLS | C2749049 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:98627Posterior corneal dystrophy
rare genetic diseases; rare ophthalmic disorders
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 35 cases | Worldwide | Case(s) | Validated | 16490493[PMID] | |
| 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.
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HPO phenotypes
7 annotations · validated 2017-06-13| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011488 | Abnormal corneal endothelium morphology | |
| HP:0000585 | Band keratopathy | |
| HP:0007957 | Corneal opacity | |
| HP:0007663 | Reduced visual acuity | |
| Very rare (<4-1%) | ||
| HP:0000565 | Esotropia | |
| HP:0100018 | Nuclear cataract | |
| HP:0000639 | Nystagmus | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 16490493[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/293621
- This record as JSON: /data/d/293621.json