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BAP1-related tumor predisposition syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0013692

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. [ Orphanet:289539 ]

Synonyms: BAP1-related tumor predisposition syndrome tumor susceptibility linked to germline BAP1 mutations tumour susceptibility linked to germline BAP1 mutations

This is just here as a test because I lose it

Term information

database cross reference
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

exactMatch

http://www.orpha.net/ORDO/Orphanet_289539

http://identifiers.org/snomedct/765057007

http://linkedlifedata.com/resource/umls/id/C3280492

https://omim.org/entry/614327

has related synonym

tumour predisposition syndrome

BAP1 tumor predisposition syndrome

tumor predisposition syndrome

BAP1 tumour predisposition syndrome

TPDS

id

MONDO:0013692

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0013692

Term relations