KEGG DISEASE: Basal cell nevus syndrome

KEGG

DISEASE: Basal cell nevus syndrome

Entry

H00895                      Disease

Name

Basal cell nevus syndrome;
Nevoid basal cell carcinoma syndrome;
Gorlin syndrome

Description

Basal cell nevus syndrome (BCNS) is a rare autosomal dominant disorder that predisposes to tumor formation especially basal cell carcinomas associated with developmental abnormalities such as odontogenic keratocyst of the mandible, calcification of the falx cerebri, multiple nevi, and skeletal anomalies. The genetic basis of the syndrome is defective hedgehog signaling pathway.

Category

Skin and connective tissue disease

Brite

Human diseases [BR:br08402]
Skin diseases
  Skin and soft tissue diseases
   H00895  Basal cell nevus syndrome
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2D  Phakomatoses or hamartoneoplastic syndromes
    H00895  Basal cell nevus syndrome

Pathway

Hedgehog signaling pathway

Network

nt06501 HH signaling

Gene

PTCH1 [HSA:5727] [KO:K06225]
PTCH2 [HSA:8643] [KO:K11101]
SUFU [HSA:51684] [KO:K06229]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

Authors

Bree AF, Shah MR

Title

Consensus statement from the first international colloquium on basal cell nevus syndrome (BCNS).

Journal

Am J Med Genet A 155A:2091-7 (2011)
DOI:10.1002/ajmg.a.34128

Reference

Authors

Takahashi C, Kanazawa N, Yoshikawa Y, Yoshikawa R, Saitoh Y, Chiyo H, Tanizawa T, Hashimoto-Tamaoki T, Nakano Y

Title

Germline PTCH1 mutations in Japanese basal cell nevus syndrome patients.

Journal

J Hum Genet 54:403-8 (2009)
DOI:10.1038/jhg.2009.55

Reference

Authors

Fan Z, Li J, Du J, Zhang H, Shen Y, Wang CY, Wang S

Title

A missense mutation in PTCH2 underlies dominantly inherited NBCCS in a Chinese family.

Journal

J Med Genet 45:303-8 (2008)
DOI:10.1136/jmg.2007.055343

Reference

Authors

Pastorino L, Ghiorzo P, Nasti S, Battistuzzi L, Cusano R, Marzocchi C, Garre ML, Clementi M, Scarra GB

Title

Identification of a SUFU germline mutation in a family with Gorlin syndrome.

Journal

Am J Med Genet A 149A:1539-43 (2009)
DOI:10.1002/ajmg.a.32944

Reference

Authors

Shivaswamy KN, Sumathy TK, Shyamprasad AL, Ranganathan C

Title

Gorlin syndrome or basal cell nevus syndrome (BCNS): A case report.

Journal

Dermatol Online J 16:6 (2010)

Reference

Authors

Go JW, Kim SH, Yi SY, Cho HK

Title

Basal cell nevus syndrome showing several histologic types of Basal cell carcinoma.

Journal

Ann Dermatol 23 Suppl 1:S36-40 (2011)
DOI:10.5021/ad.2011.23.S1.S36

LinkDB

» Japanese version

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