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Krabbe disease due to saposin A deficiency

Synonyms
Krabbe disease, atypical, due to saposin A deficiency; Saposin A Deficiency

Summary

Disease caused by homozygous mutation in the prosaposin gene (PSAP) on chromosome 10q22. The disease is genetically distinct from Krabbe disease. Clinical features include onset in infancy with respiratory and neurologic involvement. [from SNOMEDCT_US]

Available tests

36 tests are in the database for this condition.

Clinical tests (36 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: GLBA, PARK24, PSAPD, SAP1, SAP2, PSAP
    Summary: prosaposin

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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Reviews

Clinical resources

Practice guidelines

  • ACMG ACT, 2022
    American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Decreased galactocerebrosidase, elevated psychosine, Krabbe Disease (infantile form), 2022
  • ACMG Algorithm, 2022
    American College of Medical Genetics and Genomics, Algorithm, Krabbe disease: galactocerebrosidase deficiency, 2022

Molecular resources

Consumer resources

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