Variant "MPL:rs150004498"
Search result: 1 record
Variant information
Gene:
MPL 
Variant:
MPL:rs150004498 
dbSNP ID:
rs150004498  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered severity(1)  
Detail：
  • Target disease:
    Diamond-Blackfan anemia (DOID_1339)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered severity 
    Evidence:
    Assessment of genotype–phenotype associations, P=0.002 
    Effect:
    c-Mpl mutations could influence the disease severity
    Reference:
    PMID15531462
    Title:
    Elevated thrombopoietin levels and alterations in the sequence of its receptor, c-Mpl, in patients with Diamond-Blackfan anemia.
    Species studied:
    Human
    Abstract:
    In the study of the possible thrombopoietin (TPO)-c-Mpl pathway involvement in the pathogenesis of Diamond-Blackfan anemia, repeatedly increased serum TPO levels were identified in 7/14 patients and changes in c-mpl sequence in 3/14 patients. While elevated TPO levels can represent a compensatory mechanism for impaired erythropoiesis, c-Mpl mutations could influence the disease severity.