MCID: NRD011
MIFTS: 33

Neurodegeneration with Brain Iron Accumulation Disorders malady

Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Eye diseases categories

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 21
Neurodegeneration with Brain Iron Accumulation 45 22 46 24
Nbia 21 45 22
 
Hallervorden-Spatz Syndrome 22
Nbia1 22
Hss 22


Classifications:



Summaries for Neurodegeneration with Brain Iron Accumulation Disorders

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NINDS:46 Neurodegeneration with brain iron accumulation (NBIA) is a rare, inherited, neurological movement disorder characterized by an abnormal accumulation of iron in the brain and progressive degeneration of the nervous system.

MalaCards based summary: Neurodegeneration with Brain Iron Accumulation Disorders, also known as neurodegeneration with brain iron accumulation, is related to parkinson disease, late-onset and neurodegeneration with brain iron accumulation 2b, and has symptoms including abnormality of iron homeostasis, retinopathy and optic atrophy. An important gene associated with Neurodegeneration with Brain Iron Accumulation Disorders is PLA2G6 (Phospholipase A2, Group VI (Cytosolic, Calcium-Independent)), and among its related pathways is Pantothenate and CoA biosynthesis. Affiliated tissues include brain, cerebellum and eye.

GeneReviews summary for nbia-ov

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 top 50)    (show all 57)
idRelated DiseaseScoreTop Affiliating Genes
1parkinson disease, late-onset29.6ATP13A2, CP, PLA2G6
2neurodegeneration with brain iron accumulation 2b10.8
3neurodegeneration with brain iron accumulation 110.7
4coasy protein-associated neurodegeneration10.6
5dystonia10.5
6pick disease10.4
7niemann-pick disease10.4
8superior mesenteric artery syndrome10.4
9lateral sclerosis10.4
10generalized dystonia10.4
11dementia10.4
12mannosidosis10.3
13neuronitis10.3
14psychotic disorder10.3
15coasy-associated neurodegeneration10.3
16tremor10.3
17hallermann-streiff syndrome10.3
18mitochondrial membrane protein-associated neurodegeneration10.2
19ampulla of vater mucinous adenocarcinoma10.1PANK2, PLA2G6
20neurodegeneration with brain iron accumulation 610.1
21neurodegeneration with brain iron accumulation 410.1
22neurodegeneration with brain iron accululation 510.1
23atypical pantothenate kinase-associated neurodegeneration10.1
24mucinoses10.1FTL, PANK2
25fatal infantile encephalocardiomyopathy10.1CP, FTL
26choreoacanthocytosis10.0FTL, PANK2
27l-ferritin deficiency, dominant and recessive10.0C19orf12, FTL
28kufor-rakeb syndrome10.0
29cerebellar ataxia10.0
30parkinson disease 110.0
31spastic paraplegia 35, autosomal recessive10.0
32neurodegeneration with brain iron accumulation 310.0
33infantile neuroaxonal dystrophy 110.0
34parkinson disease 1210.0
35deficiency anemia10.0
36aceruloplasminemia10.0
37neuroaxonal dystrophy10.0
38metabolic syndrome x10.0
39basal ganglia disease10.0
40cerebral degeneration10.0
41iron metabolism disease10.0
42leukocyte disease10.0
43mouth disease10.0
44movement disease10.0
45prion disease10.0
46degenerative nerve diseases10.0
47genetic brain disorders10.0
48neurologic diseases10.0
49ataxia10.0
50irritant dermatitis10.0CP, FTL

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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HPO human phenotypes related to Neurodegeneration with Brain Iron Accumulation Disorders:

(show all 7)
id Description Frequency HPO Source Accession
1 abnormality of iron homeostasis hallmark (90%) HP:0011031
2 retinopathy typical (50%) HP:0000488
3 optic atrophy typical (50%) HP:0000648
4 abnormality of extrapyramidal motor function typical (50%) HP:0002071
5 chorea typical (50%) HP:0002072
6 neurological speech impairment typical (50%) HP:0002167
7 aplasia/hypoplasia of the cerebellum typical (50%) HP:0007360

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
IronapprovedPhase 2, Phase 39577439-89-623925
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
Dexiron
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
F 60 (metal)
FE
FT 3 (element)
Fe
Fe-40
Fe1+
Feraheme
Feronate
Ferretts
Ferrlecit
Ferro-Caps
Ferro-Time
Ferrousal
Ferrovac E
Ferrum
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
Infufer
Iron
Iron (Fe)
Iron (Fe1+)
Iron ion (Fe+)
Iron ion(1+)
Iron monocation
Iron standard for AAS
Iron(1+)
Iron(1+) ion
Iron(III) nitrate solution
Iron, elemental
Iron, ion (Fe1+)
Iron, ion (Fe1+) (8CI,9CI)
LOHA
LS-3196
MolPort-003-925-001
NC 100
PZh-1M3
PZh-2
PZh1M1
PZh2M
PZh2M1
PZh2M2
PZh3
PZh3M
PZh4M
PZhO
Remko
SUY-B 2
Siderol
UNII-E1UOL152H7
Venofer
Vitedyn-Slo
Yieronia
fer
ferrous ascorbate
ferrous fumarate
ferrous gluconate
ferrous glycine sulfate
ferrous iron
ferrous succinate
ferrous sulfate
hierro
2
DeferiproneapprovedPhase 2, Phase 34930652-11-02972
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
5Brain Perfusion in Pantothenate Kinase-associated Neurodegeneration (PKAN)RecruitingNCT01838018
6NBIAready: Online Collection of Natural History Patient-reported Outcome MeasuresRecruitingNCT02587858
7Compassionate Use of Deferiprone in Patients With PKANTemporarily not availableNCT02635841

Search NIH Clinical Center for Neurodegeneration with Brain Iron Accumulation Disorders

Genetic Tests for Neurodegeneration with Brain Iron Accumulation Disorders

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Genetic tests related to Neurodegeneration with Brain Iron Accumulation Disorders:

id Genetic test Affiliating Genes
1 Neurodegeneration with Brain Iron Accumulation22 24

Anatomical Context for Neurodegeneration with Brain Iron Accumulation Disorders

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

33
Brain, Cerebellum, Eye

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 pathways (with members indented)ScoreTop 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 A biosynthetic processGO:001593710.0COASY, PANK2
2coenzyme biosynthetic processGO:000910810.0COASY, PANK2
3pantothenate metabolic processGO:00159399.9COASY, PANK2
4water-soluble vitamin metabolic processGO:00067679.6COASY, PANK2
5cellular iron ion homeostasisGO:00068799.3CP, FTL

Sources for Neurodegeneration with Brain Iron Accumulation Disorders

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet