Gene "MPL"
Found 2 records
Gene information
Gene symbol:
MPL
See related:
Ensembl: ENSG00000117400, Gene ID: 4352
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
2 
Disorder:
1 
Vriant:
2 
Reference:
1 
Effect type:
Expressivity(2)  
Modifier effect:
Altered severity(2)  
Details：
  • Variant 1:
    MPL:rs150004498
    Gene:
    MPL
    Genomic location:
    dbSNP ID:
    rs150004498
    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.
  • Variant 2:
    MPL:rs146372205
    Gene:
    MPL
    Genomic location:
    dbSNP ID:
    rs146372205
    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.