Details of Disease

General Information of Disease (ID: DIS6A0ZV)

Disease Name Hemolytic anemia due to adenylate kinase deficiency
Synonyms ADENYLATE KINASE deficiency, hemolytic anemia due to; ADENYLATE KINASE deficiency, hemolytic anaemia due to
Definition
Hemolytic anemia due to adenylate kinase deficiency is a rare hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by moderate to severe chronic nonspherocytic hemolytic anemia that may require regular blood transfusions and/or splenectomy and may be associated with psychomotor impairment.
Disease Hierarchy
DIS487SI: Hereditary haemolytic anemia
DIS6A0ZV: Hemolytic anemia due to adenylate kinase deficiency
Disease Identifiers
MONDO ID
MONDO_0012967
MESH ID
C567228
UMLS CUI
C2675459
OMIM ID
612631
MedGen ID
390802
Orphanet ID
86817
SNOMED CT ID
766982000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
AK1 OT614AR3 Strong Autosomal recessive [1]
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References

1 A case of complete adenylate kinase deficiency due to a nonsense mutation in AK-1 gene (Arg 107 --> Stop, CGA --> TGA) associated with chronic haemolytic anaemia. Br J Haematol. 1999 Apr;105(1):75-9.