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Cowden syndrome 4

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any Cowden disease in which the cause of the disease is a mutation in the KLLN gene.
Uniprot Description A form of Cowden syndrome, a hamartomatous polyposis syndrome with age-related penetrance. Cowden syndrome is characterized by hamartomatous lesions affecting derivatives of ectodermal, mesodermal and endodermal layers, macrocephaly, facial trichilemmomas (benign tumors of the hair follicle infundibulum), acral keratoses, papillomatous papules, and elevated risk for development of several types of malignancy, particularly breast carcinoma in women and thyroid carcinoma in both men and women. Colon cancer and renal cell carcinoma have also been reported. Hamartomas can be found in virtually every organ, but most commonly in the skin, gastrointestinal tract, breast and thyroid.
Mondo Term and Equivalent IDs
MONDO:0014046:  Cowden syndrome 4
UMLS:C3554517: