MCID: NRD011
MIFTS: 31

Neurodegeneration with Brain Iron Accumulation Disorders malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Eye 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 21
Neurodegeneration with Brain Iron Accumulation 45 22 46 24
Nbia 21 45 22
Hallervorden-Spatz Syndrome 22 65
 
Hallervorden-Spatz Disease 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 neurodegeneration with brain iron accumulation 1 and hallermann-streiff syndrome, 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), and among its related pathways is Pantothenate and CoA biosynthesis. Affiliated tissues include brain, cerebellum and eye.

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 46)
idRelated DiseaseScoreTop Affiliating Genes
1neurodegeneration with brain iron accumulation 112.4
2hallermann-streiff syndrome11.5
3kufor-rakeb syndrome10.6
4spastic paraplegia 35, autosomal recessive10.6
5neurodegeneration with brain iron accumulation 310.6
6neurodegeneration with brain iron accululation 510.6
7aceruloplasminemia10.6
8mitochondrial membrane protein-associated neurodegeneration10.6
9coasy protein-associated neurodegeneration10.6
10atypical pantothenate kinase-associated neurodegeneration10.6
11ferro-cerebro-cutaneous syndrome10.6
12breast cancer10.4
13charge syndrome10.4
14griscelli syndrome, type 210.4
15chronic lymphocytic leukemia10.4
16leukemia10.4
17sacrococcygeal teratoma10.4
18cutaneous lupus erythematosus10.4
19horner's syndrome10.4
20urethritis10.4
21schistosomiasis10.4
22prostatitis10.4
23teratoma10.4
24adenoma10.4
25tongue cancer10.4
26lupus erythematosus10.4
27macroglobulinemia10.4
28hypoglycemia10.4
29griscelli syndrome10.4
30posterior urethral valves10.4
31gangliosidosis10.2PANK2, PLA2G6
32central nervous system hereditary degenerative disease10.1FTL, PANK2
33iron-refractory iron deficiency anemia10.1ATP13A2, PANK2, PLA2G6
34epilepsy, familial temporal lobe, 410.1FTL, PANK2
35l-ferritin deficiency, dominant and recessive10.1C19orf12, FTL
36pulmonary alveolar proteinosis10.0CP, FTL
37focal dystonia10.0C19orf12, FTL
38encephalitozoonosis10.0CP, PANK2
39atransferrinemia10.0CP, FTL, PANK2
40spastic paraplegia 43, autosomal recessive9.8C19orf12, WDR45
41hirschsprung disease 79.8C19orf12, WDR45
42alcohol-related birth defect9.7C19orf12, WDR45
43fatal infantile encephalocardiomyopathy9.7CP, FA2H, FTL, PANK2
44morbid obesity and spermatogenic failure9.7C19orf12, FA2H
45spinocerebellar ataxia 359.2ATP13A2, C19orf12, FA2H, FTL, PANK2, PLA2G6
46nonsyndromic 46,xx testicular disorders of sex development7.8ATP13A2, 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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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
DeferiproneapprovedPhase 2, Phase 35330652-11-02972
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
2
IronapprovedPhase 2, Phase 310217439-89-623925
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
3Pharmaceutical SolutionsPhase 2, Phase 37004
4Iron Chelating AgentsPhase 2, Phase 3178
5Chelating AgentsPhase 2, Phase 3667

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 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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Genetic tests related to Neurodegeneration with Brain Iron Accumulation Disorders:

id Genetic test Affiliating Genes
1 Neurodegeneration with Brain Iron Accumulation22

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
Modulation of post-operative insulin resistance by pre-operative carbohydrate loading. (12230794)
2002

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
1phosphorylationGO:00163109.7COASY, PANK2
2vitamin metabolic processGO:00067669.6COASY, PANK2

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