KEGG   DISEASE: Neurodegeneration with brain iron accumulation
H00833                      Disease                                
Neurodegeneration with brain iron accumulation
Pantothenate kinase-associated neurodegeneration [DS:H02208]
Neuroferritinopathy [DS:H01779]
Aceruloplasminemia [DS:H02206]
Kufor-Rakeb syndrome [DS:H02207]
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 phospholipase A2 (PLA2G6), and FTL (neuroferritinopathy). 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 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
     H00833  Neurodegeneration with brain iron accumulation
Pathway-based classification of diseases [BR:br08402]
 Cellular process
  nt06532  Autophagy
   H00833  Neurodegeneration with brain iron accumulation
hsa04140  Autophagy - animal
hsa00770  Pantothenate and CoA biosynthesis
hsa04978  Mineral absorption
hsa04216  Ferroptosis
nt06532 Autophagy
(NBIA1) PANK2 [HSA:80025] [KO:K09680]
(NBIA2A, NBIA2B) PLA2G6 [HSA:8398] [KO:K16343]
(NBIA3) FTL [HSA:2512] [KO:K13625]
(NBIA4) MPAN [HSA:83636] [KO:K23168]
(NBIA5) WDR45 [HSA:11152] [KO:K22991]
(NBIA6) COASY [HSA:80347] [KO:K02318]
(NBIA7) REPS1 [HSA:85021] [KO:K20068]
(NBIA8) CRAT [HSA:1384] [KO:K00624]
Other DBs
ICD-11: 5C64.10
ICD-10: G23.0
MeSH: D006211 D019150 C565699 C548080
OMIM: 234200 256600 610217 606159 614298 300894 615643 617916 617917
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 (PANK2, PLA2G6)
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)
PMID:20882425 (PANK2)
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 (MPAN)
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 (WDR45)
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 (COASY)
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)
PMID:29395073 (CRAT, REPS1)
Drecourt A, Babdor J, Dussiot M, Petit F, Goudin N, Garfa-Traore M, Habarou F, Bole-Feysot C, Nitschke P, Ottolenghi C, Metodiev MD, Serre V, Desguerre I, Boddaert N, Hermine O, Munnich A, Rotig A
Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation.
Am J Hum Genet 102:266-277 (2018)
PMID:15099026 (FTL)
Vidal R, Ghetti B, Takao M, Brefel-Courbon C, Uro-Coste E, Glazier BS, Siani V, Benson MD, Calvas P, Miravalle L, Rascol O, Delisle MB
Intracellular ferritin accumulation in neural and extraneural tissue characterizes a neurodegenerative disease associated with a mutation in the ferritin light polypeptide gene.
J Neuropathol Exp Neurol 63:363-80 (2004)

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