Glioma susceptibility 1

Preferred Label : Glioma susceptibility 1;

Symbol : GLM1;

CISMeF acronym : GBM; GLM; GLM1;

Type : Phenotype, molecular basis known;

Included titles and symbols : Glioma of brain, familial; Glioblastoma multiforme; Astrocytoma; Oligodendroglioma; Ependymoma; Subependymoma; GLM; GBM;

Description : Gliomas are central nervous system neoplasms derived from glial cells and comprise astrocytomas, glioblastoma multiforme, oligodendrogliomas, ependymomas, and subependymomas. Glial cells can show various degrees of differentiation even within the same tumor (summary by Kyritsis et al., 2010). Ependymomas are rare glial tumors of the brain and spinal cord (Yokota et al., 2003). Subependymomas are unusual tumors believed to arise from the bipotential subependymal cell, which normally differentiates into either ependymal cells or astrocytes. They were characterized as a distinct entity by Scheinker (1945). They tend to be slow-growing, noninvasive, and located in the ventricular system, septum pellucidum, cerebral aqueduct, or proximal spinal cord (summary by Ryken et al., 1994). Gliomas are known to occur in association with several other well-defined hereditary tumor syndromes such as mismatch repair cancer syndrome (276300), melanoma-astrocytoma syndrome (155755), neurofibromatosis-1 (NF1; 162200) and NF2 (101000), and tuberous sclerosis (TSC1; 191100). Familial clustering of gliomas may occur in the absence of these tumor syndromes, however. - Genetic Heterogeneity of Susceptibility to Glioma Germline mutations predisposing to glioma have also been identified in the PTEN (601728) gene on chromosome 10q23.31 (GLM2; 613028) and in the;

Inheritance : Autosomal dominant; Somatic mutation;

Molecular basis : Susceptibility conferred by mutation in the tumor protein p53 gene (TP53, 191170.0042);

Neoplasia : Astrocytomas; Glioblastoma multiforme; Oligodendrogliomas; Ependymomas; Subependymomas;

Prefixed ID : #137800;

Details

Origin ID

137800;

UMLS CUI

C2750850;

Automatic exact mappings (from CISMeF team)
- ASTROCYTOMA [WHO-ART Preferred Term]
- Adult Ependymoma [NCIt concept]
- Adult Oligodendroglioma [NCIt concept]
- Adult Subependymoma [NCIt concept]
- Astrocytoma [ORDO Disease]
- Astrocytoma [PASCAL descriptor]
- Astrocytoma [NCIt concept]
- Astrocytoma [HPO term]
- Astrocytoma [MedDRA Preferred Term]
- Astrocytoma, no International Classification of Diseases for Oncology subtype (morphologic abnormality) [SNOMED CT concept]
- Benign ependymoma [ICD-11 More detail]
- Childhood Astrocytoma [NCIt concept]
- Childhood Ependymoma [NCIt concept]
- Childhood Oligodendroglioma [NCIt concept]
- Ependymal tumor [ORDO Disease]
- Ependymoma [PASCAL descriptor]
- Ependymoma [ORDO Disease]
- Ependymoma [MedDRA Preferred Term]
- Ependymoma [NCIt concept]
- Ependymoma [HPO term]
- Ependymoma (disorder) [SNOMED CT concept]
- Ependymoma, no International Classification of Diseases for Oncology subtype (morphologic abnormality) [SNOMED CT concept]
- Glioblastoma [ORDO Disease]
- Glioblastoma [NCIt concept]
- Glioblastoma multiforme [PASCAL descriptor]
- Glioblastoma multiforme [MedDRA Preferred Term]
- Glioblastoma multiforme [HPO term]
- Glioblastoma multiforme (disorder) [SNOMED CT concept]
- Glioblastoma, no International Classification of Diseases for Oncology subtype (morphologic abnormality) [SNOMED CT concept]
- Glioblastoma, primary, NOS [ICD-11 Extension code]
- Glomerular Basement Membrane [NCIt concept]
- Newly Diagnosed Childhood Ependymoma [NCIt concept]
- Oligodendroglioma [PASCAL descriptor]
- Oligodendroglioma [ORDO Disease]
- Oligodendroglioma [NCIt concept]
- Oligodendroglioma [MedDRA Preferred Term]
- Oligodendroglioma (disorder) [SNOMED CT concept]
- Oligodendroglioma, no International Classification of Diseases for Oncology subtype (morphologic abnormality) [SNOMED CT concept]
- PPARG wt Allele [NCIt concept]
- Subependymal glioma (morphologic abnormality) [SNOMED CT concept]
- Subependymoma [ORDO Disease]
- Subependymoma [PASCAL descriptor]
- Subependymoma [ICD-11 Extension code]
- Subependymoma [ICD-O code]
- Subependymoma [NCIt concept]
- astrocytoma [Radlex concept]
- astrocytoma [MeSH Descriptor]
- astrocytoma [MeSH concept]
- ependymoma [MeSH Descriptor]
- ependymoma [MeSH concept]
- glioblastoma [DO Concept]
- glioblastoma [MeSH Descriptor]
- glioblastoma multiforme [MeSH concept]
- glioma of brain, familial [MeSH concept]
- glioma of brain, familial [MeSH Supplementary Concept]
- glioma, subependymal [MeSH Descriptor]
- glomerular basement membrane [UBERON concept]
- malignant astrocytoma [DO Concept]
- oligodendroglioma [DO Concept]
- oligodendroglioma [MeSH concept]
- oligodendroglioma [MeSH Descriptor]
- oligodendroglioma [Radlex concept]
- subependymoma [Radlex concept]
Broader ORDO disease(s)
- Glioblastoma [ORDO Disease]
Genes related to phenotype
- Erb-b2 receptor tyrosine kinase 2 [OMIM gene]
- Isocitrate dehydrogenase, nadp(+), 1 [OMIM gene]
- Tumor protein p53 [OMIM gene]
HPO term(s)
- Astrocytoma [HPO term]
- Autosomal dominant inheritance [HPO term]
- Ependymoma [HPO term]
- Glioblastoma multiforme [HPO term]
- Somatic mutation [HPO term]
ORDO concept(s)
- Anaplastic oligodendroglioma [ORDO Disease]
- Astrocytoma [ORDO Disease]
- Ependymal tumor [ORDO Disease]
- Glial tumor [ORDO Disease]
- Glioblastoma [ORDO Disease]
- Oligodendroglioma [ORDO Disease]
See also inter- (CISMeF)
- astrocytoma [Disease (Nov.)]
Semantic type(s)
- Finding [UMLS semantic type]
Validated automatic mappings to BTNT
- ependymoma [Disease (Nov.)]
- glioblastoma multiforme [Disease (Nov.)]
- oligodendroglioma [Disease (Nov.)]
- subependymoma [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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