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BLOOD GROUP, EMM SYSTEM(EMM)

MedGen UID:
1807717
•Concept ID:
C5676953
•
Intellectual Product
Synonym: EMM
 
Gene (location): PIGG (4p16.3)
 
OMIM®: 619812

Definition

The Emm red blood cell antigen is assigned number 901008 in the International Society of Blood Transfusion (ISBY) 901 series of high incidence antigens. Emm has been designated the 42nd blood group system. Rare individuals have an Emm- phenotype due to homozygous loss-of-function mutations in the PIGG gene. These individuals often have naturally occurring anti-Emm antibodies that are identified during routine blood type and crossing. These antibodies have the potential to cause acute hemolytic transfusion reactions (summary by Lane et al., 2021). [from OMIM]

Professional guidelines

PubMed

Contemporary cardiac issues in Duchenne muscular dystrophy. Working Group of the National Heart, Lung, and Blood Institute in collaboration with Parent Project Muscular Dystrophy.
McNally EM, Kaltman JR, Benson DW, Canter CE, Cripe LH, Duan D, Finder JD, Groh WJ, Hoffman EP, Judge DP, Kertesz N, Kinnett K, Kirsch R, Metzger JM, Pearson GD, Rafael-Fortney JA, Raman SV, Spurney CF, Targum SL, Wagner KR, Markham LW; Working Group of the National Heart, Lung, and Blood Institute; Parent Project Muscular Dystrophy
Circulation 2015 May 5;131(18):1590-8. doi: 10.1161/CIRCULATIONAHA.114.015151. PMID: 25940966Free PMC Article

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    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen

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