MCID: DSM005
MIFTS: 15

Desmoplastic Infantile Astrocytoma

Categories: Rare diseases

Aliases & Classifications for Desmoplastic Infantile Astrocytoma

MalaCards integrated aliases for Desmoplastic Infantile Astrocytoma:

Name: Desmoplastic Infantile Astrocytoma 53 73
Dia 53

Classifications:



External Ids:

UMLS 73 C0457179

Summaries for Desmoplastic Infantile Astrocytoma

MalaCards based summary : Desmoplastic Infantile Astrocytoma, also known as dia, is related to desmoplastic infantile astrocytoma/ganglioglioma and intellectual developmental disorder with persistence of fetal hemoglobin, and has symptoms including seizures An important gene associated with Desmoplastic Infantile Astrocytoma is BRAF (B-Raf Proto-Oncogene, Serine/Threonine Kinase). The drugs Dabrafenib and Trametinib have been mentioned in the context of this disorder.

Related Diseases for Desmoplastic Infantile Astrocytoma

Diseases related to Desmoplastic Infantile Astrocytoma via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 desmoplastic infantile astrocytoma/ganglioglioma 12.3
2 intellectual developmental disorder with persistence of fetal hemoglobin 11.6
3 astrocytoma 10.5
4 ganglioglioma 10.3
5 desmoplastic infantile ganglioglioma 9.9
6 glioblastoma 9.9

Graphical network of the top 20 diseases related to Desmoplastic Infantile Astrocytoma:



Diseases related to Desmoplastic Infantile Astrocytoma

Symptoms & Phenotypes for Desmoplastic Infantile Astrocytoma

UMLS symptoms related to Desmoplastic Infantile Astrocytoma:


seizures

Drugs & Therapeutics for Desmoplastic Infantile Astrocytoma

Drugs for Desmoplastic Infantile Astrocytoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dabrafenib Approved, Investigational Phase 2 1195765-45-7 44462760 44516822
2
Trametinib Approved Phase 2 871700-17-3 11707110
3 Protein Kinase Inhibitors Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase II Pediatric Study With Dabrafenib in Combination With Trametinib in Patients With HGG and LGG Recruiting NCT02684058 Phase 2 dabrafenib;trametinib;Carboplatin with vincristine

Search NIH Clinical Center for Desmoplastic Infantile Astrocytoma

Genetic Tests for Desmoplastic Infantile Astrocytoma

Anatomical Context for Desmoplastic Infantile Astrocytoma

Publications for Desmoplastic Infantile Astrocytoma

Articles related to Desmoplastic Infantile Astrocytoma:

(show all 16)
# Title Authors Year
1
Novel suprasellar location of desmoplastic infantile astrocytoma and ganglioglioma: a single institution's experience. ( 29979130 )
2018
2
Response in a child with a BRAF V600E mutated desmoplastic infantile astrocytoma upon retreatment with vemurafenib. ( 29230924 )
2018
3
Unusual Occurrence of Multifocal Desmoplastic Infantile Astrocytoma: A Case Report and Review of the Literature. ( 28222441 )
2017
4
Desmoplastic infantile astrocytoma and ganglioglioma: case report and review of the literature. ( 27668845 )
2017
5
Desmoplastic infantile astrocytoma/ganglioglioma with rare BRAF V600D mutation. ( 27860162 )
2016
6
Desmoplastic infantile astrocytoma with multiple intracranial and intraspinal localizations at presentation. ( 25930721 )
2015
7
Malignant desmoplastic infantile astrocytoma? a case report and review of the literature. ( 23149336 )
2013
8
Genome-wide DNA copy number analysis of desmoplastic infantile astrocytomas and desmoplastic infantile gangliogliomas. ( 23965740 )
2013
9
BRAF V600E expression and distribution in desmoplastic infantile astrocytoma / ganglioglioma. ( 23822828 )
2013
10
Desmoplastic infantile astrocytoma: recurrence with malignant transformation into glioblastoma: a case report. ( 21947035 )
2011
11
Combined fontanelle puncture and surgical operation in treatment of desmoplastic infantile astrocytoma: case report and a review of the literature. ( 19671888 )
2010
12
Desmoplastic infantile astrocytoma with benign histological phenotype and multiple intracranial localizations at presentation. ( 20012157 )
2010
13
Desmoplastic infantile astrocytoma and characteristics of the accompanying cyst. Case report. ( 18352787 )
2008
14
A non-infantile case of desmoplastic infantile astrocytoma. ( 14997329 )
2004
15
Desmoplastic infantile astrocytoma and ganglioglioma: a search for genomic characteristics. ( 12111357 )
2002
16
Desmoplastic infantile astrocytoma with metastases at presentation. ( 9310960 )
1997

Variations for Desmoplastic Infantile Astrocytoma

Expression for Desmoplastic Infantile Astrocytoma

Search GEO for disease gene expression data for Desmoplastic Infantile Astrocytoma.

Pathways for Desmoplastic Infantile Astrocytoma

GO Terms for Desmoplastic Infantile Astrocytoma

Sources for Desmoplastic Infantile Astrocytoma

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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