KEGG DISEASE: Cowden syndrome

DISEASE: Cowden syndrome

Entry

H01222                      Disease

Name

Cowden syndrome

Supergrp

PTEN hamartoma tumor syndrome [DS:H00539]

Description

Cowden syndrome (CS) is an 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 in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2D  Phakomatoses or hamartoneoplastic syndromes
    H01222  Cowden syndrome
Pathway-based classification of diseases [BR:br08402]
Signal transduction
  nt06530  PI3K signaling
   H01222  Cowden syndrome

Pathway

hsa04151

PI3K-Akt signaling pathway

Network

nt06530 PI3K signaling

Gene

(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

Reference

PMID:10353779 (PTEN)

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)
DOI:10.1136/jmg.36.5.360

Reference

PMID:18678321 (SDHB, SDHD)

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

PMID:21177507 (KLLN)

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

PMID:23246288 (PIK3CA, AKT1)

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

PMID:26522472 (SEC23B)

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

LinkDB

» Japanese version

DISEASE: Macrocephaly/autism syndrome

Entry

H02723                      Disease

Name

Macrocephaly/autism syndrome

Description

Macrocephaly/autism syndrome refers to a subset of individuals within the autism spectrum with extreme macrocephaly or head circumference more than two standard deviations above the mean. The association with mutations in PTEN was confirmed in 10-20% of cases with autism and macrocephaly.