ORPHA:360
Glioblastoma
Synonyms: GBM · Glioblastoma multiforme
- Type
- Disease
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial, Not applicable
- Age of onset
- All ages
- Status
- active
Glioblastomas are malignant astrocytic tumors (grade IV according to the WHO classification).
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Glioblastoma | GBM · Glioblastoma multiforme |
| fr | Glioblastome | GBM · Glioblastome multiforme |
| de | Glioblastom | = en |
| es | Glioblastoma | = en |
| it | Glioblastoma | = en |
| nl | Glioblastoom | = en |
| pt | Glioblastoma | |
| pl | Glejak | = en |
| cs | Glioblastom | = en |
| uk | Гліобластома | GBM · Мультиформна гліобластома |
| zh | 胶质母细胞瘤 | 多形性胶质母细胞瘤 |
| tr | Glioblastom | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 137800 | NTBT | validated | |
| OMIM | 613029 | NTBT | validated | |
| ICD-10 | C71.9 | NTBT | index | validated |
| ICD-11 | 2A00.00 | E | specific | validated |
| MONDO | 0018177 | E | validated | |
| MeSH | D005909 | E | validated | |
| UMLS | C1621958 | E | validated | |
| GARD | 2491 | E | validated | |
| MedDRA | 10018336 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:251561High-grade astrocytoma
rare neurological diseases; rare neoplastic diseases
Codes that Orphanet moved or referred to this one:
- ORPHA:36414OBSOLETE: Brain stem tumor referred to · inactive
4
Genes
0 direct · 25 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| IDH1 | ORPHA:251576Gliosarcoma | Biomarker tested in | Assessed | HGNC:5382 | ENSG00000138413 | 147700 | 2q34 | isocitrate dehydrogenase (NADP(+)) 1 | 18772396[PMID] |
| IDH1 | ORPHA:251579Giant cell glioblastoma | Biomarker tested in | Assessed | HGNC:5382 | ENSG00000138413 | 147700 | 2q34 | isocitrate dehydrogenase (NADP(+)) 1 | 18772396[PMID] |
| MGMT | ORPHA:251576Gliosarcoma | Biomarker tested in | Assessed | HGNC:7059 | ENSG00000170430 | 156569 | 10q26.3 | O-6-methylguanine-DNA methyltransferase | 22380407[PMID]_20556478[PMID] |
| MGMT | ORPHA:251579Giant cell glioblastoma | Biomarker tested in | Assessed | HGNC:7059 | ENSG00000170430 | 156569 | 10q26.3 | O-6-methylguanine-DNA methyltransferase | 22380407[PMID]_20556478[PMID] |
| NFKBIA | ORPHA:251576Gliosarcoma | Biomarker tested in | Assessed | HGNC:7797 | ENSG00000100906 | 164008 | 14q13.2 | NFKB inhibitor alpha | 25215581[PMID] |
| NFKBIA | ORPHA:251579Giant cell glioblastoma | Biomarker tested in | Assessed | HGNC:7797 | ENSG00000100906 | 164008 | 14q13.2 | NFKB inhibitor alpha | 25215581[PMID] |
| PPARG | ORPHA:251576Gliosarcoma | Biomarker tested in | Assessed | HGNC:9236 | ENSG00000132170 | 601487 | 3p25.2 | peroxisome proliferator activated receptor gamma | 10851250[PMID] |
| PPARG | ORPHA:251579Giant cell glioblastoma | Biomarker tested in | Assessed | HGNC:9236 | ENSG00000132170 | 601487 | 3p25.2 | peroxisome proliferator activated receptor gamma | 10851250[PMID] |
| TP53 | ORPHA:251576Gliosarcoma | Biomarker tested in | Assessed | HGNC:11998 | ENSG00000141510 | 191170 | 17p13.1 | tumor protein p53 | 17785346[PMID] |
| TP53 | ORPHA:251579Giant cell glioblastoma | Biomarker tested in | Assessed | HGNC:11998 | ENSG00000141510 | 191170 | 17p13.1 | tumor protein p53 | 17785346[PMID] |
| LZTR1 | ORPHA:251576Gliosarcoma | Disease-causing somatic mutation(s) in | Assessed | HGNC:6742 | ENSG00000099949 | 600574 | 22q11.21 | leucine zipper like post translational regulator 1 | 24071842[PMID]_23917401[PMID] |
| LZTR1 | ORPHA:251579Giant cell glioblastoma | Disease-causing somatic mutation(s) in | Assessed | HGNC:6742 | ENSG00000099949 | 600574 | 22q11.21 | leucine zipper like post translational regulator 1 | 24075187[PMID]_24071842[PMID] |
| EGFR | ORPHA:251576Gliosarcoma | Part of a fusion gene in | Assessed | HGNC:3236 | ENSG00000146648 | 131550 | 7p11.2 | epidermal growth factor receptor | 24075187[PMID]_24071942[PMID] |
| EGFR | ORPHA:251579Giant cell glioblastoma | Part of a fusion gene in | Assessed | HGNC:3236 | ENSG00000146648 | 131550 | 7p11.2 | epidermal growth factor receptor | 24075187[PMID]_24071942[PMID] |
| FGFR1 | ORPHA:251576Gliosarcoma | Part of a fusion gene in | Assessed | HGNC:3688 | ENSG00000077782 | 136350 | 8p11.23 | fibroblast growth factor receptor 1 | 22837387[PMID] |
| FGFR1 | ORPHA:251579Giant cell glioblastoma | Part of a fusion gene in | Assessed | HGNC:3688 | ENSG00000077782 | 136350 | 8p11.23 | fibroblast growth factor receptor 1 | 22837387[PMID] |
| FGFR3 | ORPHA:251576Gliosarcoma | Part of a fusion gene in | Assessed | HGNC:3690 | ENSG00000068078 | 134934 | 4p16.3 | fibroblast growth factor receptor 3 | 22837387[PMID] |
| FGFR3 | ORPHA:251579Giant cell glioblastoma | Part of a fusion gene in | Assessed | HGNC:3690 | ENSG00000068078 | 134934 | 4p16.3 | fibroblast growth factor receptor 3 | 22837387[PMID] |
| ROS1 | ORPHA:251579Giant cell glioblastoma | Part of a fusion gene in | Assessed | HGNC:10261 | ENSG00000047936 | 165020 | 6q22.1 | ROS proto-oncogene 1, receptor tyrosine kinase | 38845690[PMID] |
| SEPTIN14 | ORPHA:251576Gliosarcoma | Part of a fusion gene in | Assessed | HGNC:33280 | ENSG00000154997 | 612140 | 7p11.2 | septin 14 | 24075187[PMID]_24071942[PMID] |
| SEPTIN14 | ORPHA:251579Giant cell glioblastoma | Part of a fusion gene in | Assessed | HGNC:33280 | ENSG00000154997 | 612140 | 7p11.2 | septin 14 | 24075187[PMID]_24071942[PMID] |
| TACC1 | ORPHA:251576Gliosarcoma | Part of a fusion gene in | Assessed | HGNC:11522 | ENSG00000147526 | 605301 | 8p11.22 | transforming acidic coiled-coil containing protein 1 | 22837387[PMID] |
| TACC1 | ORPHA:251579Giant cell glioblastoma | Part of a fusion gene in | Assessed | HGNC:11522 | ENSG00000147526 | 605301 | 8p11.22 | transforming acidic coiled-coil containing protein 1 | 22837387[PMID] |
| TACC3 | ORPHA:251576Gliosarcoma | Part of a fusion gene in | Assessed | HGNC:11524 | ENSG00000013810 | 605303 | 4p16.3 | transforming acidic coiled-coil containing protein 3 | 22837387[PMID] |
| TACC3 | ORPHA:251579Giant cell glioblastoma | Part of a fusion gene in | Assessed | HGNC:11524 | ENSG00000013810 | 605303 | 4p16.3 | transforming acidic coiled-coil containing protein 3 | 22837387[PMID] |
5
Prevalence and incidence
7 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 100 000 | 3 / 100 000 | Worldwide | Value and class | Validated | [EXPERT] |
| Point prevalence | 1-9 / 100 000 | 1 / 100 000 | Worldwide | Value and class | Validated | [EXPERT] |
| Annual incidence | 1-9 / 100 000 | 2.52 / 100 000 | Europe | Value and class | Validated | RARECARE surveillance of rare cancers in Europe 2003[OTHER] |
| Annual incidence | 1-9 / 100 000 | 3.2 / 100 000 | United States | Value and class | Validated | Central Brain Tumor OTHERistry of the United States 2010-2014[OTHER]_29117289[PMID] |
| Annual incidence | 1-9 / 100 000 | 4.2 / 100 000 | Croatia | Value and class | Validated | 15103760[PMID] |
| Annual incidence | 1-9 / 100 000 | 3.7 / 100 000 | Greece | Value and class | Validated | 19494549[PMID] |
| Annual incidence | 1-9 / 100 000 | 3 / 100 000 | Specific population | Value and class | Validated | 14648713[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
15 annotations · validated 2017-11-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0012174 | Glioblastoma multiforme | |
| Very frequent (99-80%) | ||
| HP:0025461 | Abnormal cell morphology | |
| Frequent (79-30%) | ||
| HP:0002500 | Abnormal cerebral white matter morphology | |
| HP:0001273 | Abnormal corpus callosum morphology | |
| HP:0012638 | Abnormality of nervous system physiology | |
| HP:0002181 | Cerebral edema | |
| HP:0000712 | Emotional lability | |
| HP:0012378 | Fatigue | |
| HP:0002315 | Headache | |
| HP:0002463 | Language impairment | |
| HP:0001324 | Muscle weakness | |
| HP:0003470 | Paralysis | |
| HP:0000572 | Visual loss | |
| Occasional (29-5%) | ||
| HP:0002354 | Memory impairment | |
| HP:0001250 | Seizure | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 26948367[PMID]_28640706[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/360
- This record as JSON: /data/d/360.json