Nevoid Basal Cell Carcinoma Syndrome
An autosomal dominant genetic syndrome caused by abnormalities in the PTCH and SUFU gene. It is characterized by multiple basal cell carcinomas at a young age, odontogenic keratocysts, and skeletal defects (bifurcated and splayed ribs, fusion of vertebrae, spinal bifida). Patients with this syndrome may also develop medulloblastomas and ovarian fibromas.
Exact Synonyms
Basal Cell Nevus Syndrome
basal cell nevus syndrome
Gorlin syndrome
Gorlin Syndrome
Gorlin-Goltz Syndrome
Multiple Basal Cell Carcinomas
Nevoid Basal Cell Cancer Syndrome
nevoid basal cell carcinoma syndrome
Nevoid Basal Cell Carcinoma Syndrome
class Information
ALT_DEFINITION
A genetic condition that causes unusual facial features and disorders of the skin, bones, nervous system, eyes, and endocrine glands. People with this syndrome have a higher risk of basal cell carcinoma.
code
C2892
Contributing_Source
- CCPS
- Cellosaurus
- CTRP
- GDC
- PCDC
Display_Name
Nevoid Basal Cell Cancer Syndrome
in_subset
Is_Value_For_GDC_Property
Legacy Concept Name
Basal_Cell_Nevus_Syndrome
Maps_To
Gorlin Syndrome
Preferred_Name
Nevoid Basal Cell Carcinoma Syndrome
Related_To_Genetic_Biomarker
Semantic_Type
Disease or Syndrome
UMLS_CUI
C0004779
class Relations
Equivalent to
- (PhakomatosisandDisease_Has_Molecular_AbnormalitysomePTCH Gene InactivationandDisease_Has_FindingsomeCalcifying Odontogenic CystandDisease_May_Have_FindingsomeCerebral CalcificationandDisease_May_Have_FindingsomeCardiac FibromaandDisease_May_Have_Associated_DiseasesomeMedulloblastomaandDisease_May_Have_Associated_DiseasesomeOvarian FibromaandDisease_May_Have_Associated_DiseasesomeMacrocephalyandDisease_May_Have_Associated_DiseasesomeFetal RhabdomyomaandDisease_Has_Associated_DiseasesomeSkin Basal Cell CarcinomaandDisease_Mapped_To_GenesomePTCH1 Gene)
Subclass of
Related from
Gene_Involved_In_Pathogenesis_Of_Disease