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FLASH GENE
Symbol PDGFRA contributors: mct/pgu - updated : 30-11-2017
HGNC name platelet-derived growth factor receptor, alpha polypeptide
HGNC id 8803
ASSOCIATED DISORDERS
corresponding disease(s) TAPVR1 , HES1
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein 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 halfof 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
    SystemTypeDisorderPubmed
    cancerhemopathy 
    may represent a potential therapeutic target in thymic tumours
    cancerdigestiveliver
    targeted inhibition of PDGFRA is a rational strategy for prevention and therapy of hepatocellular carcinoma
    cancerdigestiveliver
    PDGFRA may serve as a novel therapeutic target for HCC
    cancerreproductivebreast
    PDGFRA, HSD17B4 and HMGB2 are potential therapeutic targets in polycystic ovarian syndrome and breast cancer
    ANIMAL & CELL MODELS
  • 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