KEGG   DISEASE: HARP syndrome
Entry
H02209                      Disease                                

Name
HARP syndrome
  Supergrp
Pantothenate kinase-associated neurodegeneration [DS:H02208]
Core neuroacanthocytosis syndromes [DS:H00832]
Neurodegeneration with brain iron accumulation [DS:H00833]
Description
HARP (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration) is a rare syndrome with many clinical similarities to pantothenate kinase associated neurodegeneration (PKAN). Both HARP and PKAN are caused by mutations in the gene encoding pantothenate kinase 2 (PANK2). HARP is distinguished by a specific lipoprotein abnormality. Patients have decreased or absent pre-beta lipoproteins consisting of very-low-density lipoproteins (VLDL).
Category
Nervous system disease
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Neurodegenerative diseases
   H02209  HARP syndrome
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Disorders of metabolite absorption or transport
    5C64  Disorders of mineral absorption or transport
     H02209  HARP syndrome
Related
pathway
hsa00770  Pantothenate and CoA biosynthesis
Gene
PANK2 [HSA:80025] [KO:K09680]
Other DBs
ICD-11: 5C64.10
ICD-10: G23.0
MeSH: C564603
OMIM: 607236
Reference
  Authors
Ching KH, Westaway SK, Gitschier J, Higgins JJ, Hayflick SJ
  Title
HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration.
  Journal
Neurology 58:1673-4 (2002)
DOI:10.1212/WNL.58.11.1673
Reference
  Authors
Houlden H, Lincoln S, Farrer M, Cleland PG, Hardy J, Orrell RW
  Title
Compound heterozygous PANK2 mutations confirm HARP and Hallervorden-Spatz syndromes are allelic.
  Journal
Neurology 61:1423-6 (2003)
DOI:10.1212/01.WNL.0000094120.09977.92
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