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
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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