Details of Disease

General Information of Disease (ID: DIST8BC2)

Disease Name	Basal cell nevus syndrome
Synonyms	BCNS; multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies; Gorlin-Goltz syndrome; Gorlin syndrome; nevoid basal cell cancer syndrome; NBCCS; nevoid basal cell carcinoma syndrome; basal cell nevus syndrome; multiple basal cell carcinomas
Disease Class	2C32: Basal cell carcinoma
Definition	A rare hereditary disorder due to autosomal dominant transmission with hamartosis characterized by multiple early-onset basal cell carcinoma (BCC), multiple jaw keratocysts and skeletal abnormalities.
Disease Hierarchy	DISD715V: Hereditary neurological disease DISGXLG5: Hereditary neoplastic syndrome DISNC82H: Neurocutaneous syndrome DIS3HIWD: Autosomal dominant disease DIS7GG31: Developmental defect during embryogenesis DIST8BC2: Basal cell nevus syndrome
ICD Code	ICD-11 ICD-11: 2C32 ICD-10 ICD-10: C44
Disease Identifiers	MONDO ID MONDO_0007187 MESH ID D001478 UMLS CUI C0004779 OMIM ID 109400 MedGen ID 2554 Orphanet ID 377 SNOMED CT ID 69408002

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 1 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Patidegib	DM2NJYC	Phase 2	NA	[1]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
DMPK	TTZQTY2	moderate	Genetic Variation	[2]
GLI2	TT045OH	Strong	Biomarker	[3]
PTH	TT6F7GZ	Strong	Biomarker	[4]
ROR2	TTUDPCI	Strong	Genetic Variation	[5]
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This Disease Is Related to 9 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DSG2	OTJPB2TO	moderate	Biomarker	[6]
GAS1	OTKJXG52	moderate	Biomarker	[7]
PTCH2	OTOQ0K9V	Moderate	Autosomal dominant	[8]
PTPN3	OTSLZBVY	moderate	Biomarker	[9]
RAB23	OTBAKFBR	moderate	Biomarker	[10]
SUMO2	OT1Y5IKN	moderate	Altered Expression	[11]
SUMO3	OTTUJQJ1	moderate	Altered Expression	[11]
PTCH1	OTMG07H5	Definitive	Autosomal dominant	[12]
SUFU	OT0IRYG1	Definitive	Autosomal dominant	[13]
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⏷ Show the Full List of 9 DOT(s)

References

1	Clinical pipeline report, company report or official report of the Pharmaceutical Research and Manufacturers of America (PhRMA)
2	Tissue and tumor mosaicism of the myotonin protein kinase gene trinucleotide repeat in a patient with multiple basal cell carcinomas associated with myotonic dystrophy.J Am Acad Dermatol. 2004 Feb;50(2 Suppl):S1-3. doi: 10.1016/s0190-9622(03)00125-7.
3	Odontogenic keratocysts arise from quiescent epithelial rests and are associated with deregulated hedgehog signaling in mice and humans.Am J Pathol. 2006 Sep;169(3):806-14. doi: 10.2353/ajpath.2006.060054.
4	A case of Gorlin-Goltz syndrome presented with psychiatric features.Behav Neurol. 2014;2014:830874. doi: 10.1155/2014/830874. Epub 2014 Mar 10.
5	A girl with deletion 9q22.1-q22.32 including the PTCH and ROR2 genes identified by genome-wide array-CGH.Am J Med Genet A. 2007 Aug 15;143A(16):1885-9. doi: 10.1002/ajmg.a.31845.
6	Overexpression of Desmoglein 2 in a Mouse Model of Gorlin Syndrome Enhances Spontaneous Basal Cell Carcinoma Formation through STAT3-Mediated Gli1 Expression.J Invest Dermatol. 2019 Feb;139(2):300-307. doi: 10.1016/j.jid.2018.09.009. Epub 2018 Oct 3.
7	The human growth-arrest-specific gene GAS1 maps outside the candidate region of the gene for nevoid basal cell carcinoma syndrome.Cytogenet Cell Genet. 1995;68(1-2):119-21. doi: 10.1159/000133904.
8	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
9	Expression and chromosomal assignment of PTPH1 gene encoding a cytosolic protein tyrosine phosphatase homologous to cytoskeletal-associated proteins.Int J Cancer. 1993 Dec 2;55(6):947-51. doi: 10.1002/ijc.2910550612.
10	Bifid ribs and unusual vertebral anomalies diagnosed in an anatomical specimen. Gorlin syndrome?.Am J Med Genet A. 2006 Oct 1;140(19):2135-8. doi: 10.1002/ajmg.a.31418.
11	Down-regulation of SMT3A gene expression in association with DNA synthesis induction after X-ray irradiation in nevoid basal cell carcinoma syndrome (NBCCS) cells.Mutat Res. 2005 Oct 15;578(1-2):327-32. doi: 10.1016/j.mrfmmm.2005.06.027.
12	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
13	Identification of a SUFU germline mutation in a family with Gorlin syndrome. Am J Med Genet A. 2009 Jul;149A(7):1539-43. doi: 10.1002/ajmg.a.32944.