ORPHA:178338
UV-sensitive syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare photodermatosis characterized by cutaneous photosensitivity and slight dyspigmentation, without an increased risk of developing skin tumors. Telangiectasia may also be observed, but no other clinical abnormalities. Patients present in infancy or childhood, mode of inheritance is autosomal recessive.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | UV-sensitive syndrome | |
| fr | Syndrome de sensibilité aux UV | |
| de | UV-sensitives Syndrom | |
| es | Síndrome de sensibilidad a UV | |
| it | Sindrome da ipersensibilità agli UV | |
| nl | UV-sensitief syndroom | |
| pt | Síndrome de sensibilidade aos UV | |
| pl | Zespół wrażliwości na promieniowanie UV | |
| cs | Syndrom citlivosti vůči UV záření | |
| uk | Синдром чутливості до ультрафіолету | |
| zh | 紫外线敏感综合征 | |
| tr | UV-sensitif sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600630 | BTNT | validated | |
| OMIM | 614621 | BTNT | validated | |
| OMIM | 614640 | BTNT | validated | |
| ICD-10 | L98.8 | NTBT | attributed | validated |
| ICD-11 | EJ30.Y | NTBT | attributed | validated |
| MONDO | 0015797 | E | validated | |
| MeSH | C563466 | E | validated | |
| UMLS | C1833561 | E | validated | |
| GARD | 10947 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:183490Genetic photodermatosis
rare genetic diseases - ORPHA:79390Rare photodermatosis
rare skin diseases
No children.
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Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ERCC6 | Disease-causing germline mutation(s) in | Assessed | HGNC:3438 | ENSG00000225830 | 609413 | 10q11.23 | ERCC excision repair 6, chromatin remodeling factor | 15486090[PMID] |
| ERCC8 | Disease-causing germline mutation(s) in | Assessed | HGNC:3439 | ENSG00000049167 | 609412 | 5q12.1 | ERCC excision repair 8, CSA ubiquitin ligase complex subunit | 19329487[PMID] |
| UVSSA | Disease-causing germline mutation(s) in | Assessed | HGNC:29304 | ENSG00000163945 | 614632 | 4p16.3 | UV stimulated scaffold protein A | 22466610[PMID]_22466611[PMID]_22466612[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 19329487[PMID]_7264357[PMID]_9777763[PMID]_22466610[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_19329487[PMID]_7264357[PMID]_9777763[PMID]_22466610[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/178338
- This record as JSON: /data/d/178338.json