RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: neurodegeneration with brain iron accumulation
Accession: DOID:0110734
browse the term
Definition: A neurodegenerative disease characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and dystonia. (DO)
Synonyms: exact_synonym: NBIA; Neurodegeneration with brain iron accumulation (NBIA)
narrow_synonym: Neuroaxonal dystrophy, PLA2G6-related; Neurodegeneration with brain iron accumulation 1, atypical
related_synonym: Iron Accumulation In Brain
primary_id: MESH:C538421
alt_id: OMIA:002105; RDO:0004395
xref: GARD:11899 ; OMIM:PS234200 ; ORDO:385
For additional species annotation, visit the
Alliance of Genome Resources .
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Aars2
alanyl-tRNA synthetase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Iron accumulation in brain
ClinVar
PMID:32581362
NCBI chr 9:17,869,301...17,881,762
Ensembl chr 9:17,869,124...17,880,706
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Crat
carnitine O-acetyltransferase
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation
ClinVar
PMID:25741868 PMID:29395073
NCBI chr 3:8,967,984...8,981,959
Ensembl chr 3:8,968,417...8,981,362
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Pank2
pantothenate kinase 2
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 1, atypical ClinVar Annotator: match by term: Iron accumulation in brain CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:11479594 PMID:12510040 PMID:15565311 PMID:15659606 PMID:15834858 PMID:16272150 PMID:16437574 PMID:16450344 PMID:20629144 PMID:22221393 PMID:22416811 PMID:23968566 PMID:24075960 PMID:24215330 PMID:24348190 PMID:25741868 PMID:25802776 PMID:26087139 PMID:26795593 PMID:27185474 PMID:28492532 PMID:28708303 PMID:28781879 PMID:29590070 PMID:30311386
NCBI chr 3:123,807,911...123,841,797
Ensembl chr 3:123,807,952...123,841,797
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Pla2g6
phospholipase A2 group VI
ISO
ClinVar Annotator: match by term: Iron accumulation in brain ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation
ClinVar
PMID:16783378 PMID:17033970 PMID:18359254 PMID:18414213 PMID:18443314 PMID:18799783 PMID:19138334 PMID:19893029 PMID:20301718 PMID:20584031 PMID:20619503 PMID:20886109 PMID:20947703 PMID:22934738 PMID:24033266 PMID:24108619 PMID:24745848 PMID:25164370 PMID:25326635 PMID:25326637 PMID:25558065 PMID:25741868 PMID:26668131 PMID:27196560 PMID:27378808 PMID:28492532 PMID:29395073 PMID:29454663 PMID:29472584 PMID:29915382 PMID:30340910 PMID:30619057
NCBI chr 7:120,519,479...120,559,716
Ensembl chr 7:120,519,467...120,559,347
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Reps1
RALBP1 associated Eps domain containing 1
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation
ClinVar
PMID:29395073
NCBI chr 1:13,262,049...13,298,347
Ensembl chr 1:13,212,324...13,298,347
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Wdr45
WD repeat domain 45
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation
CTD ClinVar
PMID:23176820 PMID:23435086 PMID:24368176 PMID:24621584 PMID:25741868 PMID:25744623 PMID:28492532 PMID:28711740
NCBI chr X:15,621,249...15,627,159
Ensembl chr X:15,621,209...15,627,235
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Pank2
pantothenate kinase 2
ISO
ClinVar Annotator: match by term: Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration ClinVar Annotator: match by OMIM:607236
OMIM ClinVar
PMID:1734303 PMID:7898702 PMID:11479594 PMID:12058097 PMID:12510040 PMID:14638969 PMID:15565311 PMID:15659606 PMID:15834858 PMID:16272150 PMID:16437574 PMID:16450344 PMID:22221393 PMID:22416811 PMID:23968566 PMID:24075960 PMID:24215330 PMID:24348190 PMID:25741868 PMID:25802776 PMID:26087139 PMID:26795593 PMID:27185474 PMID:28492532 PMID:28708303 PMID:28781879 PMID:29590070 PMID:30311386 PMID:32581362
NCBI chr 3:123,807,911...123,841,797
Ensembl chr 3:123,807,952...123,841,797
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Pla2g6
phospholipase A2 group VI
ISO
ClinVar Annotator: match by term: PLA2G6-associated neurodegeneration ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar Annotator: match by term: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A DNA:deletions, missense mutations, nonsense mutation: exon:multiple
OMIM ClinVar
PMID:16783378 PMID:17033970 PMID:18359254 PMID:18414213 PMID:18570303 PMID:18799783 PMID:18981035 PMID:19138334 PMID:19893029 PMID:20186954 PMID:20584031 PMID:20619503 PMID:20669327 PMID:20886109 PMID:20938027 PMID:20947703 PMID:21368765 PMID:21700586 PMID:21812034 PMID:22213678 PMID:22934738 PMID:23182313 PMID:24033266 PMID:24088041 PMID:24108619 PMID:24745848 PMID:25164370 PMID:25174650 PMID:25326635 PMID:25326637 PMID:25660576 PMID:25741868 PMID:26196026 PMID:26467025 PMID:26539891 PMID:26633545 PMID:26668131 PMID:27127721 PMID:27196560 PMID:27268037 PMID:27294386 PMID:27378808 PMID:27709683 PMID:27942883 PMID:28295203 PMID:28492532 PMID:28821231 PMID:29124790 PMID:29454663 PMID:29915382 PMID:30042723 PMID:30065071 PMID:30232368 PMID:30302010 PMID:30340910 PMID:32860008 , PMID:22934738
RGD:12910703
NCBI chr 7:120,519,479...120,559,716
Ensembl chr 7:120,519,467...120,559,347
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Tcap
titin-cap
ISO
ClinVar Annotator: match by term: Seitelberger disease
ClinVar
PMID:12955720 PMID:15689448 PMID:16783378 PMID:18484607 PMID:19881469 PMID:20301515 PMID:20301718 PMID:20301788 PMID:21735565 PMID:21943391 PMID:25741868 PMID:28492532 PMID:30311386
NCBI chr10:86,337,705...86,338,414
Ensembl chr10:86,337,728...86,338,411
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Pla2g6
phospholipase A2 group VI
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 2b ClinVar Annotator: match by term: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION, PLA2G6-RELATED ClinVar Annotator: match by OMIM:610217
OMIM ClinVar
PMID:16783378 PMID:17033970 PMID:18414213 PMID:18443314 PMID:18570303 PMID:18799783 PMID:18981035 PMID:20301718 PMID:20619503 PMID:20669327 PMID:20886109 PMID:24088041 PMID:24745848 PMID:25741868 PMID:26196026 PMID:26633545 PMID:26668131 PMID:27268037 PMID:28492532 PMID:29472584 PMID:29915382 PMID:30619057 PMID:32581362 PMID:32860008
NCBI chr 7:120,519,479...120,559,716
Ensembl chr 7:120,519,467...120,559,347
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Ftl1
ferritin light chain 1
ISO
DNA:insertion:exon:460_461insA(human) ClinVar Annotator: match by term: Neuroferritinopathy ClinVar Annotator: match by OMIM:606159 DNA:duplication:cds:458dupA(human) DNA:mutations:exon:
ClinVar OMIM
PMID:11438811 PMID:12746423 PMID:16116125 PMID:17182944 PMID:18413574 PMID:18414213 PMID:18854324 PMID:25741868 PMID:28492532 , PMID:17142829 , PMID:18854324 , PMID:19117339
RGD:5509859 , RGD:5509860 , RGD:5509861
NCBI chr 1:101,448,190...101,450,034
Ensembl chr 1:101,448,346...101,449,829
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Gys1
glycogen synthase 1
ISO
ClinVar Annotator: match by term: Neuroferritinopathy
ClinVar
PMID:17182944 PMID:18414213 PMID:25741868 PMID:28492532
NCBI chr 1:101,427,195...101,447,092
Ensembl chr 1:101,427,195...101,447,092
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LOC690000
similar to CG3740-PA
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 4 ClinVar Annotator: match by term: MITOCHONDRIAL PROTEIN-ASSOCIATED NEURODEGENERATION ClinVar Annotator: match by OMIM:614298
OMIM ClinVar
PMID:18414213 PMID:20039086 PMID:21981780 PMID:22508347 PMID:22584950 PMID:23166001 PMID:23269600 PMID:23278385 PMID:23436634 PMID:23494994 PMID:23857908 PMID:24033266 PMID:24209434 PMID:25592411 PMID:25741868 PMID:26187298 PMID:26539891 PMID:27112773 PMID:28347615 PMID:28492532 PMID:28641177 PMID:29295770 PMID:29389947 PMID:30088953 PMID:30392167 PMID:31087512 PMID:32581362
NCBI chr 1:94,572,714...94,587,842
Ensembl chr 1:94,579,080...94,587,219
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Otud5
OTU deubiquitinase 5
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5
ClinVar
NCBI chr X:15,471,212...15,504,372
Ensembl chr X:15,471,211...15,504,165
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Wdr45
WD repeat domain 45
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 ClinVar Annotator: match by term: Beta-Propeller protein-associated Neurodegeneration ClinVar Annotator: match by OMIM:300894
OMIM ClinVar
PMID:22892189 PMID:23176820 PMID:23435086 PMID:23687123 PMID:24368176 PMID:24621584 PMID:24896178 PMID:25326635 PMID:25356899 PMID:25741868 PMID:25741887 PMID:25744623 PMID:26467025 PMID:26609730 PMID:26633542 PMID:26790960 PMID:27030146 PMID:27159028 PMID:27652284 PMID:28191889 PMID:28492532 PMID:28554332 PMID:28711740 PMID:28932395 PMID:29082105 PMID:29171013 PMID:29389947 PMID:29981852 PMID:30311386 PMID:30612247 PMID:30713893
NCBI chr X:15,621,249...15,627,159
Ensembl chr X:15,621,209...15,627,235
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Coasy
Coenzyme A synthase
ISO
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 6 ClinVar Annotator: match by OMIM:615643
OMIM ClinVar
PMID:24360804 PMID:25741868 PMID:28489334 PMID:28492532
NCBI chr10:88,992,413...88,996,677
Ensembl chr10:88,992,487...88,996,676
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Reps1
RALBP1 associated Eps domain containing 1
ISO
ClinVar Annotator: match by term: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7
ClinVar OMIM
PMID:25741868 PMID:29395073
NCBI chr 1:13,262,049...13,298,347
Ensembl chr 1:13,212,324...13,298,347
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Crat
carnitine O-acetyltransferase
ISO
ClinVar Annotator: match by term: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8
OMIM ClinVar
PMID:25741868 PMID:29395073
NCBI chr 3:8,967,984...8,981,959
Ensembl chr 3:8,968,417...8,981,362
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Pank2
pantothenate kinase 2
ISO
ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar Annotator: match by OMIM:234200 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1301187 PMID:1734303 PMID:7898702 PMID:11479594 PMID:12058097 PMID:12510040 PMID:12811783 PMID:14580665 PMID:14638969 PMID:15465096 PMID:15565311 PMID:15659606 PMID:15834858 PMID:15843062 PMID:15911822 PMID:16023068 PMID:16240131 PMID:16272150 PMID:16437574 PMID:16450344 PMID:17903678 PMID:19224615 PMID:20193558 PMID:20603201 PMID:20629144 PMID:21198414 PMID:21459825 PMID:21480873 PMID:22103354 PMID:22127788 PMID:22221393 PMID:22416811 PMID:22682757 PMID:23634310 PMID:23757202 PMID:23968566 PMID:24033266 PMID:24075960 PMID:24209433 PMID:24215330 PMID:24348190 PMID:24712887 PMID:25741868 PMID:25802776 PMID:25915509 PMID:26087139 PMID:26467025 PMID:26795593 PMID:26828213 PMID:27185474 PMID:28094106 PMID:28357202 PMID:28492532 PMID:28708303 PMID:28781879 PMID:28821231 PMID:28845923 PMID:28881514 PMID:29590070 PMID:30311386 PMID:30681573 PMID:32581362
NCBI chr 3:123,807,911...123,841,797
Ensembl chr 3:123,807,952...123,841,797
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Snca
synuclein alpha
ISO
RGD
PMID:10934140
RGD:6480098
NCBI chr 4:90,782,412...90,883,236
Ensembl chr 4:90,782,374...90,882,285
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Sncb
synuclein, beta
ISO
RGD
PMID:10934140
RGD:6480098
NCBI chr17:10,384,472...10,392,776
Ensembl chr17:10,384,511...10,392,843
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Sncg
synuclein, gamma
ISO
RGD
PMID:10934140
RGD:6480098
NCBI chr16:10,722,110...10,726,648
Ensembl chr16:10,722,106...10,726,707
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