Hemolytic anemia due to adenylate kinase deficiency

Synonyms: ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 3

Summary

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. [from SNOMEDCT_US]

Available tests

23 tests are in the database for this condition.

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Clinical tests (23 available)

Molecular Genetics Tests

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Associated genes Help
Genes reported to contribute to the condition.

AK1
34 tests
Also known as: CNSHA3, HTL-S-58j, AK1
Summary: adenylate kinase 1

Imported from Human Phenotype Ontology (HPO)

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Abnormality of blood and blood-forming tissues
- Hemolytic anemia
  Hemolytic anemia
  - MedGen UID: 1916
  - Concept ID: C0002878
  - Finding: Disease or Syndrome
  Abnormality of blood and blood-forming tissues
  See: Feature record | Search on this feature
Abnormality of metabolism/homeostasis
- Reduced erythrocyte adenylate kinase activity
  Reduced erythrocyte adenylate kinase activity
  - MedGen UID: 1863686
  - Concept ID: C5937320
  - Finding: Finding
  Abnormality of metabolism/homeostasis
  See: Feature record | Search on this feature

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