BAP1-related tumor predisposition syndrome
Synonyms: Tumor susceptibility linked to germline BAP1 mutations
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
BAP1-related tumor predisposition syndrome (TPDS) is an inherited cancer-predisposing syndrome, associated with germline mutations in BAP1 tumor suppressor gene. The most commonly observed cancer types include uveal melanoma, malignant mesothelioma, renal cell carcinoma, lung, ovarian, pancreatic, breast cancer and meningioma, with variable age of onset. Common cutaneous manifestations include malignant melanoma, basal cell carcinoma and benign melanocytic BAP1-mutated atypical intradermal tumors (MBAIT) presenting as multiple skin-coloured to reddish-brown dome-shaped to pedunculated, well-circumscribed papules with an average size of 5 mm, histologically predominantly composed of epithelioid melanocytes with abundant amphophilic cytoplasm, prominent nucleoli and large, vesicular nuclei that vary substantially in size and shape.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | BAP1-related tumor predisposition syndrome | Tumor susceptibility linked to germline BAP1 mutations |
| fr | Prédisposition au développement de tumeurs liée à BAP1 | |
| de | BAP1-abhängiges Tumorprädispositionssyndrom | |
| es | Síndrome de predisposición tumoral asociado a BAP1 | |
| it | Sindrome da predisposizione ai tumori correlata a BAP1 | Suscettibilità ai tumori legata alle mutazioni germinali di BAP1 |
| nl | BAP1-gerelateerde tumorpredispositiesyndroom | Tumorgevoeligheid verbonden met kiemlijn BAP1-mutaties |
| pt | Síndrome de predisposição a tumor BAP1-relacionado | Susceptibilidade para tumor ligado a mutações germinativas em BAP1 |
| pl | Zespół predyspozycji do nowotworów związany z BAP1 | Wrażliwość na nowotwory związana z germinalnymi mutacjami BAP1 |
| cs | BAP1-vázaný syndrom predispozice k nádorům | Náchylnost k nádorům související se zárodečnými mutacemi BAP1 |
| uk | Синдром схильності до пухлин, повязаних з BAP1 | Сприйнятливість до пухлин повязана з мутаціями BAP1 в зародковій лінії |
| zh | BAP1基因相关肿瘤易感综合征 | BAP1基因突变相关肿瘤易感综合征 |
| tr | BAP1-ilişkili tümör yatkınlık sendromu | Germ hattı BAP1 mutasyonlarına bağlı tümör duyarlılığı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614327 | E | validated | |
| ICD-10 | D23.9 | NTBT | attributed | validated |
| MONDO | 0013692 | E | validated | |
| UMLS | C4707290 | E | validated | |
| GARD | 13219 | 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:140162Inherited cancer-predisposing syndrome
rare genetic diseases; rare neoplastic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BAP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:950 | ENSG00000163930 | 603089 | 3p21.1 | BRCA1 associated deubiquitinase 1 | 21956388[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/289539
- This record as JSON: /data/d/289539.json