KEGG   DISEASE: Cowden syndromeHelp
Entry
H01222                      Disease                                

Name
Cowden syndrome
  Supergrp
PTEN hamartoma tumor syndrome [DS:H00539]
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
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H01222  Cowden syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2D  Phakomatoses or hamartoneoplastic syndromes
    H01222  Cowden syndrome
BRITE hierarchy
Gene
(CWS1) PTEN [HSA:5728] [KO:K01110]
(CWS2) SDHB [HSA:6390] [KO:K00235]
(CWS3) SDHD [HSA:6392] [KO:K00237]
(CWS4) KLLN [HSA:100144748]
(CWS5) PIK3CA [HSA:5290] [KO:K00922]
(CWS6) AKT1 [HSA:207] [KO:K04456]
(CWS7) SEC23B [HSA:10483] [KO:K14006]
Other DBs
ICD-11: LD2D.Y
ICD-10: Q85.9
MeSH: D006223
OMIM: 158350 612359 615106 615107 615108 615109 616858
Reference
  Authors
Celebi JT, Tsou HC, Chen FF, Zhang H, Ping XL, Lebwohl MG, Kezis J, Peacocke M
  Title
Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN.
  Journal
J Med Genet 36:360-4 (1999)
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)
DOI:10.1016/j.ajhg.2008.07.011
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)
DOI:10.1001/jama.2010.1877
Reference
  Authors
Orloff MS, He X, Peterson C, Chen F, Chen JL, Mester JL, Eng C
  Title
Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes.
  Journal
Am J Hum Genet 92:76-80 (2013)
DOI:10.1016/j.ajhg.2012.10.021
Reference
  Authors
Yehia L, Niazi F, Ni Y, Ngeow J, Sankunny M, Liu Z, Wei W, Mester JL, Keri RA, Zhang B, Eng C
  Title
Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer.
  Journal
Am J Hum Genet 97:661-76 (2015)
DOI:10.1016/j.ajhg.2015.10.001

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