MCID: NRD011
MIFTS: 21

Neurodegeneration with Brain Iron Accumulation Disorders malady

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Eye diseases, Metabolic diseases

Aliases & Classifications for Neurodegeneration with Brain Iron Accumulation Disorders

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Aliases & Descriptions for Neurodegeneration with Brain Iron Accumulation Disorders:

Name: Neurodegeneration with Brain Iron Accumulation Disorders 22
 
Nbia 22

Classifications:



Summaries for Neurodegeneration with Brain Iron Accumulation Disorders

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MalaCards based summary: Neurodegeneration with Brain Iron Accumulation Disorders, also known as nbia, is related to kufor-rakeb syndrome and neurodegeneration with brain iron accumulation 1. An important gene associated with Neurodegeneration with Brain Iron Accumulation Disorders is PLA2G6 (Phospholipase A2 Group VI), and among its related pathways is Pantothenate and CoA biosynthesis. Affiliated tissues include brain.

GeneReviews summary for NBK121988

Related Diseases for Neurodegeneration with Brain Iron Accumulation Disorders

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Diseases in the Neurodegeneration with Brain Iron Accumulation 2b family:

Neurodegeneration with Brain Iron Accumulation 6 Neurodegeneration with Brain Iron Accumulation 4
Neurodegeneration with Brain Iron Accumulation 3 Neurodegeneration with Brain Iron Accumulation 1
neurodegeneration with brain iron accumulation disorders

Diseases related to Neurodegeneration with Brain Iron Accumulation Disorders via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 24)
idRelated DiseaseScoreTop Affiliating Genes
1kufor-rakeb syndrome30.1ATP13A2, PLA2G6
2neurodegeneration with brain iron accumulation 111.5
3neurodegeneration with brain iron accumulation 411.2
4infantile neuroaxonal dystrophy 110.9
5mitochondrial membrane protein-associated neurodegeneration10.9
6klippel-feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism10.1ATP13A2, PANK2, PLA2G6
7hereditary elliptocytosis10.0FA2H, PANK2, PLA2G6
8herpes simplex encephalitis 710.0C19orf12, FTL
9atransferrinemia10.0CP, PANK2
10aceruloplasminemia10.0
11dystonia10.0
12spastic paraplegia 35, autosomal recessive9.9
13neurodegeneration with brain iron accumulation 69.9
14neurodegeneration with brain iron accululation 59.9
15vitamin metabolic disorder9.8CP, FA2H, FTL
16macrocytic anemia9.8CP, FA2H, FTL
17multifocal dystonia9.8C19orf12, FTL
18microsporidiosis9.7CP, PANK2
19morbid obesity and spermatogenic failure9.7C19orf12, FA2H, PANK2
20carpenter syndrome 29.6C19orf12, WDR45
21hirschsprung disease 79.5C19orf12, WDR45
22spastic cerebral palsy9.5C19orf12, WDR45
23corneal endothelial dystrophy 2, autosomal recessive8.7C19orf12, COASY, FA2H, FTL, PANK2, PLA2G6
24nonsyndromic disorders of testicular development6.5ATP13A2, C19orf12, COASY, CP, DCAF17, FA2H

Graphical network of the top 20 diseases related to Neurodegeneration with Brain Iron Accumulation Disorders:



Diseases related to neurodegeneration with brain iron accumulation disorders

Symptoms for Neurodegeneration with Brain Iron Accumulation Disorders

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Drugs & Therapeutics for Neurodegeneration with Brain Iron Accumulation Disorders

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Drugs for Neurodegeneration with Brain Iron Accumulation Disorders (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
IronPhase 2, Phase 310807439-89-623925
Synonyms:
02583_FLUKA
12310_ALDRICH
12310_RIEDEL
129048-51-7
14067-02-8
161135-39-3
190454-13-8
195161-83-2
199281-22-6
209309_ALDRICH
209309_SIAL
255637_ALDRICH
266213_ALDRICH
266256_ALDRICH
267945_ALDRICH
267953_ALDRICH
26Fe
338141_ALDRICH
356808_ALDRICH
356824_ALDRICH
356832_ALDRICH
39344-71-3
3ZhP
413054_ALDRICH
443783-52-6
44890_ALDRICH
44890_FLUKA
675141-17-0
70884-35-4
73135-38-3
7439-89-6
8011-79-8
8053-60-9
AC1L2N38
ATW 230
ATW 432
Ancor B
Ancor en 80/150
Armco iron
Atomel 28
Atomel 300M200
Atomel 500M
Atomel 95
Atomiron 44MR
Atomiron 5M
Atomiron AFP 25
Atomiron AFP 5
C00023
C3518_SIAL
C3518_SIGMA
CCRIS 1580
CHEBI:18248
CID23925
Carbonyl iron
Copy Powder CS 105-175
D007501
DB01592
DSP 1000
DSP 128B
DSP 135
DSP 135C
DSP 138
Diseases (animal), iron overload
Diseases, iron overload
EF 1000
EF 250
EFV 200/300
EFV 250
EFV 250/400
EINECS 231-096-4
 
Ed-In-Sol
Eisen
Electrolytic iron
F 60 (metal)
FE
FT 3 (element)
Fe
Fe-40
Fe1+
Feronate
Ferretts
Ferro-Caps
Ferro-Time
Ferrousal
Ferrovac E
Ferrum
Ferrum metallicum
GS 6
HF 2 (element)
HL (iron)
HQ (metal)
HS (iron)
HS 4849
HSDB 604
Hemocyte
Hierro
Hoeganaes ATW 230
Hoeganaes EH
IRMM524A_FLUKA
IRMM524B_FLUKA
IRON
Iron (Fe)
Iron (Fe1+)
Iron ion (Fe+)
Iron ion(1+)
Iron monocation
Iron powder
Iron standard for AAS
Iron(1+)
Iron(1+) ion
Iron(III) nitrate solution
Iron, carbonyl
Iron, electrolytic
Iron, elemental
Iron, ion (Fe1+)
Iron, ion (Fe1+) (8CI,9CI)
Iron, reduced
LOHA
LS-3196
MolPort-003-925-001
NC 100
PZh-1M3
PZh-2
PZh1M1
PZh2M
PZh2M1
PZh2M2
PZh3
PZh3M
PZh4M
PZhO
Reduced iron
Remko
SUY-B 2
Siderol
UNII-E1UOL152H7
Vitedyn-Slo
Yieronia
fer
ferrous iron
hierro
2
DeferipronePhase 2, Phase 35630652-11-02972
Synonyms:
1,2-Dimethyl-3-hydroxypyrid-4-one
3-Hydroxy-1,2-dimethyl-4(1H)-pyridone
APO-066
CP-20
DN-180-01-AF
Deferipron
 
Deferiprona
Deferiproni
Deferipronum
Deferypron
Dimethylhydroxypyridone
Défériprone
Ferriprox
PL-1

Interventional clinical trials:

idNameStatusNCT IDPhase
1Efficacy and Safety of the Iron Chelator Deferiprone in Parkinson's DiseaseCompletedNCT00943748Phase 2, Phase 3
2A Two-arm Efficacy and Safety Study of Deferiprone in Patients With Pantothenate Kinase-associated Neurodegeneration (PKAN)Active, not recruitingNCT01741532Phase 3
3Long-term Deferiprone Treatment in Patients With Pantothenate Kinase-Associated NeurodegenerationEnrolling by invitationNCT02174848Phase 3
4Ferrochelating Treatment in Patients Affected by Neurodegeneration With Brain Iron Accumulation (NBIA)Active, not recruitingNCT00907283Phase 2
5NBIAready: Online Collection of Natural History Patient-reported Outcome MeasuresRecruitingNCT02587858
6Brain Perfusion in Pantothenate Kinase-associated Neurodegeneration (PKAN)RecruitingNCT01838018
7Compassionate Use of Deferiprone in Patients With PKANAvailableNCT02635841

Search NIH Clinical Center for Neurodegeneration with Brain Iron Accumulation Disorders

Genetic Tests for Neurodegeneration with Brain Iron Accumulation Disorders

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Anatomical Context for Neurodegeneration with Brain Iron Accumulation Disorders

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MalaCards organs/tissues related to Neurodegeneration with Brain Iron Accumulation Disorders:

34
Brain

Animal Models for Neurodegeneration with Brain Iron Accumulation Disorders or affiliated genes

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Publications for Neurodegeneration with Brain Iron Accumulation Disorders

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Articles related to Neurodegeneration with Brain Iron Accumulation Disorders:

idTitleAuthorsYear
1
Neurodegeneration with Brain Iron Accumulation Disorders Overview (23447832)
1993

Variations for Neurodegeneration with Brain Iron Accumulation Disorders

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Expression for genes affiliated with Neurodegeneration with Brain Iron Accumulation Disorders

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Search GEO for disease gene expression data for Neurodegeneration with Brain Iron Accumulation Disorders.

Pathways for genes affiliated with Neurodegeneration with Brain Iron Accumulation Disorders

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Pathways related to Neurodegeneration with Brain Iron Accumulation Disorders according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.6COASY, PANK2

GO Terms for genes affiliated with Neurodegeneration with Brain Iron Accumulation Disorders

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Biological processes related to Neurodegeneration with Brain Iron Accumulation Disorders according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1coenzyme biosynthetic processGO:00091089.7COASY, PANK2
2coenzyme A biosynthetic processGO:00159379.6COASY, PANK2
3cellular iron ion homeostasisGO:00068798.9ATP13A2, CP, FTL

Molecular functions related to Neurodegeneration with Brain Iron Accumulation Disorders according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1phosphatidylinositol-3,5-bisphosphate bindingGO:00800259.3ATP13A2, WDR45

Sources for Neurodegeneration with Brain Iron Accumulation Disorders

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet