Erythrocyte Adenylate Kinase Deficiency

MedGen UID:: 479882
•Concept ID:: C3278252
•: Disease or Syndrome

Synonym:

Red cell adenylate kinase deficiency

Definition

An autosomal recessive disorder caused by mutation of the AK1 gene. It is associated with moderate to severe non-spherocytic hemolytic anemia and, in some cases, with intellectual disability and psychomotor impairment. [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVErythrocyte Adenylate Kinase Deficiency

Phenotypic abnormality
- Abnormality of blood and blood-forming tissues
  - Abnormal erythrocyte morphology
    - Anemia
      - Anemia due to enzyme disorder
        Anemia due to erythrocyte enzyme disorder
        Erythrocyte Adenylate Kinase Deficiency

Recent clinical studies

Diagnosis

Erythrocyte adenylate kinase deficiency: characterization of recombinant mutant forms and relationship with nonspherocytic hemolytic anemia.

Abrusci P, Chiarelli LR, Galizzi A, Fermo E, Bianchi P, Zanella A, Valentini G
Exp Hematol 2007 Aug;35(8):1182-9. doi: 10.1016/j.exphem.2007.05.004. PMID: 17662886

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Erythrocyte Adenylate Kinase Deficiency

Definition

Term Hierarchy

Recent clinical studies

Diagnosis

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