| Symbol
| PDGFRA
| contributors: mct/pgu - updated : 30-11-2017
|
| HGNC name
| platelet-derived growth factor receptor, alpha polypeptide
|
| HGNC id
| 8803
|
| Other morbid association(s)
|
| Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
|---|
| tumoral
| fusion
|
|
|
| |
with BCR in t (4;22) (q12;q11) in atypical chronic myeloid leukemia | | tumoral
| somatic mutation
|
|
| gain of function
| |
in gastrointestinal stromal tumors | | tumoral
|
|
| --over
|
| |
in basal cell carcinoma | | tumoral
| fusion
| deletion
|
|
|
acquired 4q12 deletion resulting in FIP1L1/PDGFRA fusion gene in about half of the cases of idiopathic hypereosinophilic syndrome  | | tumoral
| somatic mutation
|
|
|
| |
in synovial sarcomas | | tumoral
|
| amplification
|
|
| |
in intimal sarcoma, which should be considered as a molecular hallmark of this entity | | tumoral
|
| amplification
|
|
| |
coamplification of PDGFRA or KDR with KIT may be clinically useful novel molecular markers in medulloblastomas and primitive neuroectodermal tumors | | tumoral
|
| amplification
|
|
| |
rearrangements are frequent genetic events in PDGFRA-amplified glioblastomas | | constitutional
|
|
| --over
|
| |
dysregulated PDGFRA expression could cause orofacial cleft, spina bifida and omphalocele | |
| Susceptibility
|
to neural tube defects to primitive neurectodermal tumours and ependymomas to variation of corneal curvature to isolated cleft palate (CP) |
| Variant & Polymorphism
SNP
| haplotype H2 delta in the promoter associated with primitive neurectodermal tumours and ependymomas |
|
six single nucleotide polymorphisms (SNPs)associated with variation of corneal curvature |
|
single base-pair substitutions in the PDGFRA in patients with CP (8.8p100) |
| 
|
Candidate gene
| Marker
| PDGFRA immunopositivity reflects PDGFRA mutational status and is associated with a favorable outcome in gastrointestinal stromal tumors | |
PDGFRA may serve as a candidate prognostic marker for HCC (hepatocellular carcinoma) | Therapy target
|
|
| System | Type | Disorder | Pubmed |
|---|
| cancer | hemopathy | | |
| may represent a potential therapeutic target in thymic tumours | | cancer | digestive | liver | |
| targeted inhibition of PDGFRA is a rational strategy for prevention and therapy of hepatocellular carcinoma | | cancer | digestive | liver | |
| PDGFRA may serve as a novel therapeutic target for HCC | | cancer | reproductive | breast | |
| PDGFRA, HSD17B4 and HMGB2 are potential therapeutic targets in polycystic ovarian syndrome and breast cancer |
| | |
|
| deletion of Pdgfra at different embryonic days (between E7.5 and E10.5) resulted in orofacial cleft, spina bifida, rib cage deformities, and omphalocele | |
increased Pdgfra activity causes adipose tissue fibrosis in adult mice |