MCID: GLM047
MIFTS: 17

Glioma Susceptibility 3

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Glioma Susceptibility 3

MalaCards integrated aliases for Glioma Susceptibility 3:

Name: Glioma Susceptibility 3 57 29 6
Glioblastoma 3 57 13
Glm3 57 75
Glioma, Susceptibility, Type 3 40
Glioma 3 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
glioma susceptibility 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 613029
MedGen 42 C2751641
MeSH 44 D005910

Summaries for Glioma Susceptibility 3

UniProtKB/Swiss-Prot : 75 Glioma 3: Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes.

MalaCards based summary : Glioma Susceptibility 3, is also known as glioblastoma 3. An important gene associated with Glioma Susceptibility 3 is BRCA2 (BRCA2, DNA Repair Associated). Affiliated tissues include brain, and related phenotypes are medulloblastoma and astrocytoma

Description from OMIM: 613029

Related Diseases for Glioma Susceptibility 3

Symptoms & Phenotypes for Glioma Susceptibility 3

Symptoms via clinical synopsis from OMIM:

57
Neoplasia:
brain tumors, multiple types
glioblastoma
medulloblastoma
astrocytoma


Clinical features from OMIM:

613029

Human phenotypes related to Glioma Susceptibility 3:

32
# Description HPO Frequency HPO Source Accession
1 medulloblastoma 32 HP:0002885
2 astrocytoma 32 HP:0009592
3 glioblastoma multiforme 32 HP:0012174

Drugs & Therapeutics for Glioma Susceptibility 3

Search Clinical Trials , NIH Clinical Center for Glioma Susceptibility 3

Genetic Tests for Glioma Susceptibility 3

Genetic tests related to Glioma Susceptibility 3:

# Genetic test Affiliating Genes
1 Glioma Susceptibility 3 29 BRCA2

Anatomical Context for Glioma Susceptibility 3

MalaCards organs/tissues related to Glioma Susceptibility 3:

41
Brain

Publications for Glioma Susceptibility 3

Variations for Glioma Susceptibility 3

ClinVar genetic disease variations for Glioma Susceptibility 3:

6
(show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 BRCA2 NM_000059.3(BRCA2): c.658_659delGT (p.Val220Ilefs) deletion Pathogenic rs80359604 GRCh37 Chromosome 13, 32903606: 32903607
2 BRCA2 NM_000059.3(BRCA2): c.658_659delGT (p.Val220Ilefs) deletion Pathogenic rs80359604 GRCh38 Chromosome 13, 32329469: 32329470
3 BRCA2 NM_000059.3(BRCA2): c.5645C> G (p.Ser1882Ter) single nucleotide variant Pathogenic rs80358785 GRCh37 Chromosome 13, 32914137: 32914137
4 BRCA2 NM_000059.3(BRCA2): c.5645C> G (p.Ser1882Ter) single nucleotide variant Pathogenic rs80358785 GRCh38 Chromosome 13, 32340000: 32340000
5 BRCA2 NM_000059.3(BRCA2): c.5682C> G (p.Tyr1894Ter) single nucleotide variant Pathogenic rs41293497 GRCh37 Chromosome 13, 32914174: 32914174
6 BRCA2 NM_000059.3(BRCA2): c.5682C> G (p.Tyr1894Ter) single nucleotide variant Pathogenic rs41293497 GRCh38 Chromosome 13, 32340037: 32340037
7 BRCA2 NM_000059.3(BRCA2): c.7480C> T (p.Arg2494Ter) single nucleotide variant Pathogenic rs80358972 GRCh37 Chromosome 13, 32930609: 32930609
8 BRCA2 NM_000059.3(BRCA2): c.7480C> T (p.Arg2494Ter) single nucleotide variant Pathogenic rs80358972 GRCh38 Chromosome 13, 32356472: 32356472
9 BRCA2 NM_000059.3(BRCA2): c.9117G> A (p.Pro3039=) single nucleotide variant Pathogenic rs28897756 GRCh37 Chromosome 13, 32954050: 32954050
10 BRCA2 NM_000059.3(BRCA2): c.9117G> A (p.Pro3039=) single nucleotide variant Pathogenic rs28897756 GRCh38 Chromosome 13, 32379913: 32379913
11 BRCA2 NM_000059.3(BRCA2): c.145G> T (p.Glu49Ter) single nucleotide variant Pathogenic rs80358435 GRCh37 Chromosome 13, 32893291: 32893291
12 BRCA2 NM_000059.3(BRCA2): c.145G> T (p.Glu49Ter) single nucleotide variant Pathogenic rs80358435 GRCh38 Chromosome 13, 32319154: 32319154
13 BRCA2 NM_000059.3(BRCA2): c.5857G> T (p.Glu1953Ter) single nucleotide variant Pathogenic rs80358814 GRCh37 Chromosome 13, 32914349: 32914349
14 BRCA2 NM_000059.3(BRCA2): c.5857G> T (p.Glu1953Ter) single nucleotide variant Pathogenic rs80358814 GRCh38 Chromosome 13, 32340212: 32340212

Expression for Glioma Susceptibility 3

Search GEO for disease gene expression data for Glioma Susceptibility 3.

Pathways for Glioma Susceptibility 3

GO Terms for Glioma Susceptibility 3

Sources for Glioma Susceptibility 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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