KEGG   DISEASE: Core neuroacanthocytosis syndromes
Entry
H00832                      Disease                                
Name
Core neuroacanthocytosis syndromes
  Subgroup
Chorea-acanthocytosis (ChAc) [DS:H01432]
McLeod syndrome (MLS) [DS:H00655]
Huntington's disease-like 2 (HDL2) [DS:H01243]
Pantothenate kinase associated neurodegeneration (PKAN) [DS:H02208]
Description
Neuroacanthocytosis (NA) syndromes are a heterogeneous group of diseases in which nervous system abnormalities coincide with red blood cell acanthocytosis. Core NA syndromes are one of the broad groups of NA disorders characterized by degeneration of the basal ganglia, movement disorders, cognitive impairment, and psychiatric features. NA syndromes are caused by disease-specific genetic mutations. The mechanism by which these mutations cause neurodegeneration is not known.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 03 Diseases of the blood or blood-forming organs
  Anaemias or other erythrocyte disorders
   Haemolytic anaemias
    Congenital haemolytic anaemia
     3A10  Hereditary haemolytic anaemia
      H00832  Core neuroacanthocytosis syndromes
 08 Diseases of the nervous system
  Movement disorders
   8A01  Choreiform disorders
    H00832  Core neuroacanthocytosis syndromes
Pathway
hsa00770  Pantothenate and CoA biosynthesis
Gene
(CHAC) VPS13A [HSA:23230] [KO:K19525]
(MLS) XK [HSA:7504] [KO:K19522]
(HDL2) JPH3 [HSA:57338] [KO:K19530]
(PKAN) PANK2 [HSA:80025] [KO:K09680]
Comment
McLeod syndrome is described in [HD:H00655].
Chorea-acanthocytosis is described in [HD:H01432].
PKAN is allelic with HARP syndrome.
Other DBs
ICD-11: 3A10.Y 8A01.1Y
Reference
PMID:22027213
  Authors
Jung HH, Danek A, Walker RH
  Title
Neuroacanthocytosis syndromes.
  Journal
Orphanet J Rare Dis 6:68 (2011)
DOI:10.1186/1750-1172-6-68
Reference
PMID:18567359
  Authors
Ichiba M, Nakamura M, Sano A
  Title
[Neuroacanthocytosis update].
  Journal
Brain Nerve 60:635-41 (2008)
DOI:10.11477/mf.1416100292
LinkDB

» Japanese version

DBGET integrated database retrieval system