BAP1-related tumor predisposition syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: TPDS
Tumor susceptibility linked to germline BAP1 mutations
Number of Symptoms 13
OrphanetNr: 289539
OMIM Id: 614327
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Inherited cancer-predisposing syndrome
 -Rare genetic disease
 -Rare oncologic disease

Symptom Information: Sort by abundance 

1
(HPO:0007716) Intraocular melanoma 5 / 7739
2
(HPO:0002858) Meningioma 22 / 7739
3
(HPO:0012056) Cutaneous melanoma 10 / 7739
4
(OMIM) Melanocytic skin tumors/papules, skin-colored to reddish-brown, dome-shaped or pedunculated, well circumscribed with an average size of 5 mm (in 2 families) 1 / 7739
5
(OMIM) Dermal tumors composed of epithelioid melanocytes 1 / 7739
6
(OMIM) Melanocytes contain large vesicular nuclei with varying shapes 1 / 7739
7
(OMIM) Prominent nucleoli 1 / 7739
8
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
9
(HPO:0030078) Lung adenocarcinoma 3 / 7739
10
(OMIM) Abundant cytoplasm 1 / 7739
11
(OMIM) Some show atypical features, such as nuclear pleomorphism NERVOUS SYSTEM : 1 / 7739
12
(OMIM) Mesothelioma, malignant, after asbestos exposure 1 / 7739
13
(MedDRA:10025031) Lung adenocarcinoma 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) This tumor predisposition syndrome is inherited in an autosomal dominant pattern. Individuals carrying heterozygous BAP1 mutations are at high-risk for the development of a variety of tumors, including benign melanocytic tumors as well as several malignant tumors, including ...
Clinical Description OMIM Wiesner et al. (2011) reported 2 unrelated families with autosomal dominant inheritance of a skin tumor predisposition syndrome. In the second decade of life, affected individuals progressively developed multiple skin-colored to reddish-brown, dome-shaped to pedunculated, well-circumscribed papules with ...
Molecular genetics OMIM Using array-based comparative genomic hybridization, Wiesner et al. (2011) found loss of chromosome 3p in 50% of skin tumors from 3 affected individuals in a family with melanocytic tumors, suggesting that this was a second hit resulting in ...