KEGG   DISEASE: Basal cell nevus syndromeHelp
Entry
H00895                      Disease                                

Name
Basal cell nevus syndrome;
Nevoid basal cell carcinoma syndrome;
Gorlin syndrome
Description
Basal cell nevus syndrome 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
BRITE hierarchy
Pathway
hsa04340  Hedgehog signaling pathway
hsa05200  Pathways in cancer
hsa05217  Basal cell carcinoma
Gene
PTCH1 [HSA:5727] [KO:K06225]
PTCH2 [HSA:8643] [KO:K11101]
SUFU [HSA:51684] [KO:K06229]
Other DBs
ICD-11: LD2D.4
ICD-10: D36.9
MeSH: D001478
OMIM: 109400
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

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