KEGG   DISEASE: Neurodegeneration with brain iron accumulation (NBIA)Help
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.
Neurodegenerative 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
Pantothenate and CoA biosynthesis
Porphyrin and chlorophyll metabolism
Fc epsilon RI signaling pathway
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]
(NBIA4) MPAN [HSA:83636]
(NBIA5) WDR45 [HSA:11152]
(NBIA6) COASY [HSA:80347] [KO:K02318]
(Aceruloplasminemia) CP [HSA:1356] [KO:K13624]
(SPG35) FA2H [HSA:79152] [KO:K19703]
ATP13A2 [HSA:23400] [KO:K13526]
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)
PMID:23269600 (gene)
Hogarth P, Gregory A, Kruer MC, Sanford L, Wagoner W, Natowicz MR, Egel RT, Subramony SH, Goldman JG, Berry-Kravis E, Foulds NC, Hammans SR, Desguerre I, Rodriguez D, Wilson C, Diedrich A, Green S, Tran H, Reese L, Woltjer RL, Hayflick SJ
New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN.
Neurology 80:268-75 (2013)
PMID:23176820 (gene)
Haack TB, Hogarth P, Kruer MC, Gregory A, Wieland T, Schwarzmayr T, Graf E, Sanford L, Meyer E, Kara E, Cuno SM, Harik SI, Dandu VH, Nardocci N, Zorzi G, Dunaway T, Tarnopolsky M, Skinner S, Frucht S, Hanspal E, Schrander-Stumpel C, Heron D, Mignot C, Garavaglia B, Bhatia K, Hardy J, Strom TM, Boddaert N, Houlden HH, Kurian MA, Meitinger T, Prokisch H, Hayflick SJ
Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.
Am J Hum Genet 91:1144-9 (2012)
PMID:24360804 (gene)
Dusi S, Valletta L, Haack TB, Tsuchiya Y, Venco P, Pasqualato S, Goffrini P, Tigano M, Demchenko N, Wieland T, Schwarzmayr T, Strom TM, Invernizzi F, Garavaglia B, Gregory A, Sanford L, Hamada J, Bettencourt C, Houlden H, Chiapparini L, Zorzi G, Kurian MA, Nardocci N, Prokisch H, Hayflick S, Gout I, Tiranti V
Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation.
Am J Hum Genet 94:11-22 (2014)

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