hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, & pallidal degeneration (HARP) syndrome
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Epidemiology
rare
Pathology
- acanthocytosis
- retinitis pigmentosa
- pallidal degeneration
Genetics
- associated with mutations in pantothenate kinase 2 gene
Clinical manifestations
- similar to Hallervorden-Spatz syndrome
Laboratory
- hypoprebetalipoproteinemia
More general terms
References
- ↑ OMIM https://mirror.omim.org/entry/607236
- ↑ 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: https://www.ncbi.nlm.nih.gov/pubmed/12058097
Patient information
HARP syndrome patient information