KEGG   DISEASE: Cowden syndromeHelp
H01222                      Disease                                

Cowden syndrome
PTEN hamartoma tumor syndrome [DS:H00539]
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.
Congenital malformation
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
hsa04932 Non-alcoholic fatty liver disease (NAFLD)   
(CWS1) PTEN [HSA:5728] [KO:K01110]
(CWS2) SDHB [HSA:6390] [KO:K00235]
(CWS3) SDHD [HSA:6392] [KO:K00237]
(CWS4) KLLN [HSA:100144748] [KO:K23389]
(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
Celebi JT, Tsou HC, Chen FF, Zhang H, Ping XL, Lebwohl MG, Kezis J, Peacocke M
Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN.
J Med Genet 36:360-4 (1999)
Ni Y, Zbuk KM, Sadler T, Patocs A, Lobo G, Edelman E, Platzer P, Orloff MS, Waite KA, Eng C
Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes.
Am J Hum Genet 83:261-8 (2008)
Bennett KL, Mester J, Eng C
Germline epigenetic regulation of KILLIN in Cowden and Cowden-like syndrome.
JAMA 304:2724-31 (2010)
Orloff MS, He X, Peterson C, Chen F, Chen JL, Mester JL, Eng C
Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes.
Am J Hum Genet 92:76-80 (2013)
Yehia L, Niazi F, Ni Y, Ngeow J, Sankunny M, Liu Z, Wei W, Mester JL, Keri RA, Zhang B, Eng C
Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer.
Am J Hum Genet 97:661-76 (2015)

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