ORPHA:313846
Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, inherited cancer-predisposing syndrome characterized by an early development of cutaneous telangiectasia, mild dental and nail anomalies, patchy alopecia over the affected skin areas and increased lifetime risk for oropharyngeal cancer. Other types of cancer have also been reported.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome | |
| fr | Télangiectasie cutanée familiale et syndrome de prédisposition au cancer oropharyngé | |
| de | Familiäre kutane Telangiektasie-Oropharyngealer Krebs-Prädispositionssyndrom | |
| es | Síndrome de telangiectasia cutánea familiar y predisposición al cáncer orofaríngeo | |
| it | Telangectasia cutanea familiare e sindrome da predisposizione ai tumori orofaringei | |
| nl | Familiale cutane teleangiëctasie en orofaryngeale kankerpredispositiesyndroom | |
| pt | Síndrome de telangiectasia cutânea familiar e predisposição para cancro orofaríngeo | |
| pl | Rodzinna telangiektazja skórna i zespół predyspozycji do nowotworów ustno-gardłowych | |
| cs | Syndrom zahrnující familiární kožní teleangiektázie a predispozici k orofaryngeálním nádorům | |
| uk | Сімейна шкірна телеангіектазія та синдром схильності до раку ротоглотки | |
| zh | 家族性皮肤毛细血管扩张症和癌综合征 | |
| tr | Ailesel kutanöz telenjiektazi ve orofaringeal kanser yatkınlık sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614564 | E | validated | |
| ICD-10 | C10.9 | NTBT | attributed | validated |
| ICD-11 | 2B6A.Y | NTBT | attributed | validated |
| MONDO | 0013806 | E | validated | |
| UMLS | C5190630 | 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 (3):
- ORPHA:183478Genetic skin vascular disorder
rare genetic diseases - ORPHA:140162Inherited cancer-predisposing syndrome
rare genetic diseases; rare neoplastic diseases - ORPHA:79379Skin vascular disease
rare skin diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ATR | Disease-causing germline mutation(s) in | Assessed | HGNC:882 | ENSG00000175054 | 601215 | 3q23 | ATR checkpoint kinase | 22341969[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 24 cases | Worldwide | Case(s) | Validated | 22341969[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
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/313846
- This record as JSON: /data/d/313846.json