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hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, & pallidal degeneration (HARP) syndrome

Epidemiology: rare Pathology: 1) acanthocytosis 2) retinitis pigmentosa 3) pallidal degeneration Genetics: - associated with mutations in pantothenate kinase 2 gene Clinical manifestations: - similar to Hallervorden-Spatz syndrome Laboratory: - hypoprebetalipoproteinemia

General

genetic disease of the central nervous system

Database Correlations

OMIM 607236 Kegg H02209

References

  1. OMIM :accession 607236
  2. Ching KH, Westaway SK, Gitschier J, Higgins JJ, Hayflick SJ. HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration. Neurology. 2002 Jun 11;58(11):1673-4. PMID: 12058097