Duffy Null Polymorphism

Preferred Label : Duffy Null Polymorphism;

NCIt synonyms : ACKR1 Negative; Duffy Negative; Duffy-Null State; Fy(a-b-); Fy(a-b-) Phenotype; DARC Negative; Duffy Null;

NCIt definition : A finding indicating that expression of atypical chemokine receptor 1 protein (ACKR1; DARC; Duffy antigen/chemokine receptor) is not detected on a subject's red blood cells. The Duffy null state is associated with leukopenia and neutropenia, decreased rate of HIV disease progression and with resistance to infection by the malarial parasite Plasmodium vivax. (Blood. 2009; 114:2783-2792.);

NCIt note : Duffy null phenotype is common in those with west African ancestry and is usually a result of homozygosity of the genetic variant ACKR1 NM_002036.3:c.-67T C. However, there are reports of rare occurances of either another promoter mutation or a frameshift mutation resulting in a premature stop codon in the ACKR1 gene that result in this phenotype.;

PubMed : 21272574;

Details

Origin ID

C153231;

UMLS CUI

C1292242;

Automatic exact mappings (from CISMeF team)
- Fy(a-b+) phenotype (finding) [SNOMED CT concept]
- Fy(a-b-) phenotype (finding) [SNOMED CT concept]
- Fy^a Ab [LOINC component]
Semantic type(s)
- Finding [UMLS semantic type]
- Laboratory or Test Result [UMLS semantic type]
UMLS correspondences (same concept)
- Fy(a-b-) phenotype (finding) [SNOMED CT concept]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
related_to_genetic_biomarker
- ACKR1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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