Brooke-Spiegler syndrome

Summary
Synonym
  • BRSS
  • BSS
  • CYLD cutaneous syndrome
  • SBS
  • Spiegler-Brooke Syndrome
Definition
A skin 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.
Super Class
autosomal dominant disease skin disease
External Links
Disease Ontology
DOID:0050693
Mondo Disease Ontology
UMLS
ORDO
OMIM
GARD
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
10908 PNPLA6 patatin like phospholipase domain containing 6
64131 XYLT1 xylosyltransferase 1
Related Glycoprotein

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024