| H00895 | |
| H number | H00895 |
| 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 | Congenital malformation |
| Network | nt06501(H00895) HH signaling |
| Gene | (BCNS1) PTCH1 [HSA:5727] [KO:K06225] (BCNS2) SUFU [HSA:51684] [KO:K06229] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD2D.4 ICD-10: D36.9 MeSH: D001478 OMIM: 109400 620343 |
| Reference | PMID:21834049 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 PMID:20875327 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) DOI:10.5070/D39033w6fh PMID:22028568 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 PMID:19557015 (BCNS1) 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 PMID:19533801 (BCNS2) 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 |