ORPHA:101068
Congenital stromal corneal dystrophy
Synonyms: CSCD · Congenital hereditary stromal dystrophy · Witschel dystrophy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital stromal corneal dystrophy | CSCD · Congenital hereditary stromal dystrophy · Witschel dystrophy |
| fr | Dystrophie cornéenne stromale congénitale | CSCD · Dystrophie de Witschel · Dystrophie stromale congénitale héréditaire |
| de | Hornhautdystrophie, stromale, kongenitale | CSCD · Witschel-Dystrophie |
| es | Distrofia corneal estromal congénita | CSCD · Distrofia de Witschel · Distrofia estromal hereditaria congénita |
| it | Distrofia corneale stromale congenita | CSCD · Distrofia di Witschel · Distrofia stromale ereditaria congenita |
| nl | Congenitale stromale corneadystrofie | CSCD · Congenitale erfelijke stromale dystrofie · Congenitale stromale hoornvliesdystrofie · Dystrofie van Witschel |
| pt | Distrofia do estroma da córnea congénita | CSCD · Distrofia Witschel · Distrofia do estroma hereditária congénita |
| pl | Wrodzona dystrofia zrębu rogówki | CSCD · Dystrofia Witschela · Wrodzona dziedziczna dystrofia zrębu |
| cs | Vrozená stromální korneální dystrofie | CSCD · Witschelova dystrofie · Vrozená dědičná stromální dystrofie |
| uk | Вроджена стромальна дистрофія рогівки | Вроджена спадкова стромальна дистрофія · CSCD · Дистрофія Вітшеля |
| zh | 先天性角膜基质营养不良 | 先天性遗传性角膜基质营养不良 |
| tr | Doğumsal stromal kornea distrofisi | CSCD · Witschel distrofisi · Doğumsal kalıtsal stromal distrofi |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 610048 | E | validated | |
| ICD-10 | H18.5 | NTBT | attributed | validated |
| ICD-11 | 9A70.Y | NTBT | index | validated |
| MONDO | 0012401 | E | validated | |
| MeSH | C566452 | E | validated | |
| UMLS | C1864738 | 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:98626Stromal corneal dystrophy
rare genetic diseases; rare ophthalmic disorders
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DCN | Disease-causing germline mutation(s) in | Assessed | HGNC:2705 | ENSG00000011465 | 125255 | 12q21.33 | decorin | 15671264[PMID]_20301741[PMID] |
| SPARCL1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11220 | ENSG00000152583 | 606041 | 4q22.1 | SPARC like 1 | 39169229[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 families | Worldwide | Family(ies) | Validated | 24413633[PMID]_20301741[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24413633[PMID]_20301741[PMID] |
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
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/101068
- This record as JSON: /data/d/101068.json