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Brooke-Spiegler syndrome

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Brooke-Spiegler syndrome (BSS) is an inherited predisposition syndrome presenting with skin appendage tumors, namely cylindromas, spiradenomas and trichoepitheliomas. A minority of patients can also get major and minor salivary glands neoplasms, usually membranous basal cell adenoma.
Uniprot Description An autosomal dominant disorder characterized by the appearance of multiple skin appendage tumors such as cylindroma, trichoepithelioma, and spiradenoma. These tumors are typically located in the head and neck region, appear in early adulthood, and gradually increase in size and number throughout life.
Disease Ontology Description An autosomal dominant disease that is characterized by the development of several types of tumors from the skin, has_material_basis_in heterozygous mutation in the CYLD gene on chromosome 16q12.
Mondo Term and Equivalent IDs
MONDO:0011512:  Brooke-Spiegler syndrome
GARD:0010179: 
Orphanet:79493: 
SCTID:703531009: 
UMLS:C1857941: