KEGG   DISEASE: H01222Help
Entry
H01222                      Disease                                

Name
Cowden-like syndrome
Description
Cowden syndrome (CS) is a autosomal dominant inherited cancer syndrome characterized by benign and malignant breast, thyroid, and endometrial neoplasias in addition to cutaneous findings and macrocephaly. Germ line PTEN mutations have been found in 85% of those with CS. A large heterogeneous group of individuals with Cowden-like syndrome, who have various combinations of Cowden syndrome features but who do not meet Cowden syndrome diagnostic criteria, have PTEN mutations less than 10% of the time. In the absence of germline PTEN mutations, approximately 10% of individuals with Cowden syndrome or Cowden-like syndrome harbor germline succinate dehydrogenase variants SDHB and SDHD.
Category
Developmental disorder
BRITE hierarchy
Pathway
Citrate cycle (TCA cycle)
Oxidative phosphorylation
Gene
SDHB [HSA:6390] [KO:K00235]
SDHD [HSA:6392] [KO:K00237]
Comment
Cowden syndrome is described in PTEN hamartoma tumor syndrome. [DS:H00539]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
  Authors
Ni Y, Zbuk KM, Sadler T, Patocs A, Lobo G, Edelman E, Platzer P, Orloff MS, Waite KA, Eng C
  Title
Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes.
  Journal
Am J Hum Genet 83:261-8 (2008)
Reference
  Authors
Bennett KL, Mester J, Eng C
  Title
Germline epigenetic regulation of KILLIN in Cowden and Cowden-like syndrome.
  Journal
JAMA 304:2724-31 (2010)

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