Cutaneous photosensitivity-lethal colitis syndrome
historical
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- historical
A rare inflammatory bowel disease characterized by early cutaneous photosensitivity manifesting by sun-induced facial erythematous and vesicular lesions and severe recurrent colitis which lead to untreatable diarrhea. There have been no further descriptions in the literature since 1991.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cutaneous photosensitivity-lethal colitis syndrome | |
| fr | Syndrome de photosensibilité cutanée-colite létale | |
| de | Kutane Photosensitivität-letale Kolitis-Syndrom | |
| es | Síndrome de fotosensibilidad cutánea-colitis letal | |
| it | Fotosensibilità cutanea - colite letale | |
| nl | Cutane fotosensitiviteit - letale colitis-syndroom | |
| pt | Síndrome de fotossensibilidade cutânea-colite letal | |
| pl | Wrażliwość na światło - śmiertelne zapalenie jelit | |
| cs | Syndrom zahrnující kožní fotosenzitivitu a letální kolitidu | |
| uk | Синдром шкірної фоточутливості - летального коліту | |
| zh | 皮肤光过敏-致死性结肠炎综合征 | |
| tr | Kutanöz fotosensitive-letal kolit sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 219095 | E | validated | |
| ICD-10 | L57.8 | NTBT | attributed | validated |
| ICD-11 | DB33.Y | NTBT | index | validated |
| MONDO | 0009051 | E | validated | |
| MeSH | C536224 | E | validated | |
| UMLS | C4303808 | E | validated | |
| GARD | 1633 | 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 (1):
- ORPHA:717865Rare congenital/chronic/intractable diarrhea with inflammatory bowel disease
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 2002480[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_2002480[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2881
- This record as JSON: /data/d/2881.json