KEGG   DISEASE: H00833Help
H00833                      Disease                                

Neurodegeneration with brain iron accumulation (NBIA);
Hallervorden-Spatz syndrome;
Pantothenate kinase-associated neurodegeneration (PKAN);
Neurodegeneration with brain iron accumulation (NBIA) is a group of progressive extrapyramidal and cognitive disorders characterized by iron accumulation predominantly in the globus pallidus, as well as extensive axonal spheroids in various regions of the brain. The most frequent genetic form is the pantothenate kinase-2 associated neurodegeneration (PKAN) with a mutation in the pantothenate kinase 2 (PANK2) gene. Other forms are associated with a mutation in phosphoslipase A2 (PLA2G6), FTL (neuroferritinopathy), CP (aceruloplasminemia), FA2H (Fatty acid 2-hydroxylase) and ATP13A2 (ATPase type 13A2) genes. A significant proportion of children with an NBIA phenotype have no genetic diagnosis and there are additional as yet undiscovered genes that account for a number of these cases.
Nervous system disease
Human diseases [BR:br08402]
 Nervous system diseases
  Neurodegenerative diseases
   H00833  Neurodegeneration with brain iron accumulation (NBIA)
Human diseases in ICD-10 classification [BR:br08403]
 6. Diseases of the nervous system (G00-G99)
  G20-G26  Extrapyramidal and movement disorders
   G23  Other degenerative diseases of basal ganglia
    H00833  Neurodegeneration with brain iron accumulation (NBIA)
BRITE hierarchy
Glycerophospholipid metabolism
Ether lipid metabolism
Arachidonic acid metabolism
Linoleic acid metabolism
Pantothenate and CoA biosynthesis
Porphyrin and chlorophyll metabolism
Fc epsilon RI signaling pathway
Fc gamma R-mediated phagocytosis
Serotonergic synapse
Long-term depression
Mineral absorption
(NBIA1) PANK2 [HSA:80025] [KO:K09680]
(NBIA2A, NBIA2B) PLA2G6 [HSA:8398] [KO:K16343]
(NBIA3) FTL [HSA:2512] [KO:K13625]
(Aceruloplasminemia) CP [HSA:1356] [KO:K13624]
(SPG35) FA2H [HSA:79152] [KO:K19703]
ATP13A2 [HSA:23400] [KO:K13526]
The eye-of-the-tiger sign at MR imaging
Other DBs
PMID:21550835 (description, gene)
Friedman A, Arosio P, Finazzi D, Koziorowski D, Galazka-Friedman J
Ferritin as an important player in neurodegeneration.
Parkinsonism Relat Disord 17:423-30 (2011)
PMID:21480873 (description, gene)
Kurian MA, McNeill A, Lin JP, Maher ER
Childhood disorders of neurodegeneration with brain iron accumulation (NBIA).
Dev Med Child Neurol 53:394-404 (2011)
Kamate M, Mali R, Tonne V, Bubanale S
'Eye-of-the-tiger' sign and classic pantothenate kinase associated neurodegeneration.
Indian J Pediatr 78:121-2 (2011)
Kruer MC, Paisan-Ruiz C, Boddaert N, Yoon MY, Hama H, Gregory A, Malandrini A, Woltjer RL, Munnich A, Gobin S, Polster BJ, Palmeri S, Edvardson S, Hardy J, Houlden H, Hayflick SJ
Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA).
Ann Neurol 68:611-8 (2010)

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