KEGG   DISEASE: Pantothenate kinase-associated neurodegeneration
Entry
H02208                      Disease                                

Name
Pantothenate kinase-associated neurodegeneration;
Hallervorden-Spatz disease;
Neurodegeneration with brain iron accumulation 1
  Subgroup
HARP syndrome [DS:H02209]
  Supergrp
Core neuroacanthocytosis syndromes [DS:H00832]
Neurodegeneration with brain iron accumulation [DS:H00833]
Description
Pantothenate kinase associated neurodegeneration (PKAN), also known as Hallervorden-Spatz disease, is an autosomal recessive neurodegenerative disorder associated with iron accumulation in the brain. Clinical features include extrapyramidal dysfunction, onset in childhood, and a relentlessly progressive course. Mutations in PANK2 gene encoding the mitochondrial pantothenate kinase have been found in patients.
Category
Nervous system disease
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Neurodegenerative diseases
   H02208  Pantothenate kinase-associated neurodegeneration
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
     H02208  Pantothenate kinase-associated neurodegeneration
Pathway
hsa00770 Pantothenate and CoA biosynthesis   
Gene
PANK2 [HSA:80025] [KO:K09680]
Other DBs
ICD-11: 5C64.10
ICD-10: G23.0
MeSH: D006211
OMIM: 234200
Reference
  Authors
Hartig MB, Hortnagel K, Garavaglia B, Zorzi G, Kmiec T, Klopstock T, Rostasy K, Svetel M, Kostic VS, Schuelke M, Botz E, Weindl A, Novakovic I, Nardocci N, Prokisch H, Meitinger T
  Title
Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation.
  Journal
Ann Neurol 59:248-56 (2006)
DOI:10.1002/ana.20771
Reference
  Authors
Zhou B, Westaway SK, Levinson B, Johnson MA, Gitschier J, Hayflick SJ
  Title
A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome.
  Journal
Nat Genet 28:345-9 (2001)
DOI:10.1038/ng572
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