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

Genes See tests for all associated and related genes

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: 1053214
  - Concept ID: CN377390
  - Finding: Finding
  Abnormality of metabolism/homeostasis
  See: Feature record | Search on this feature

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