Trichoepithelioma, Multiple Familial, 1 malady
Categories: Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Cancer diseases
Aliases & Descriptions for Trichoepithelioma, Multiple Familial, 1:
Global: Genetic diseases, Rare diseases, Cancer diseases
Anatomical: Eye diseases, Skin diseases
OMIM:49 Multiple familial trichoepithelioma, also called epithelioma adenoides cysticum (EAC), is an autosomal dominant... (601606) more...
MalaCards based summary: Trichoepithelioma, Multiple Familial, 1, also known as multiple familial trichoepithelioma 1, is related to multiple familial trichoepithelioma and trichoepithelioma, multiple familial, 2, and has symptoms including basal cell carcinoma An important gene associated with Trichoepithelioma, Multiple Familial, 1 is CYLD (CYLD Lysine 63 Deubiquitinase). Affiliated tissues include skin and eye.
UniProtKB/Swiss-Prot:67 Multiple familial trichoepithelioma 1: Autosomal dominant dermatosis characterized by the presence of many skin tumors predominantly on the face. Since histologic examination shows dermal aggregates of basaloid cells with connection to or differentiation toward hair follicles, this disorder has been thought to represent a benign hamartoma of the pilosebaceous apparatus. Trichoepitheliomas can degenerate into basal cell carcinoma.
Diseases in the Multiple Familial Trichoepithelioma family:
Diseases related to Trichoepithelioma, Multiple Familial, 1 via text searches within MalaCards or GeneCards Suite gene sharing:
MalaCards organs/tissues related to Trichoepithelioma, Multiple Familial, 1:33
Search GEO for disease gene expression data for Trichoepithelioma, Multiple Familial, 1.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet