MCID: NRD011
MIFTS: 35

Neurodegeneration with Brain Iron Accumulation Disorders malady

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

Aliases & Classifications for Neurodegeneration with Brain Iron Accumulation Disorders

About this section

Aliases & Descriptions for Neurodegeneration with Brain Iron Accumulation Disorders:

Name: Neurodegeneration with Brain Iron Accumulation Disorders 23
Neurodegeneration with Brain Iron Accumulation 47 24 48 26
Nbia 23 47 24
Hallervorden-Spatz Syndrome 24 67
 
Hallervorden-Spatz Disease 24
Nbia1 24
Hss 24

Classifications:



Summaries for Neurodegeneration with Brain Iron Accumulation Disorders

About this section
NINDS:48 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 kufor-rakeb syndrome and neurodegeneration with brain iron accumulation 1, 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 and cerebellum.

GeneReviews for NBK121988

Related Diseases for Neurodegeneration with Brain Iron Accumulation Disorders

About this section

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 36)
idRelated DiseaseScoreTop Affiliating Genes
1kufor-rakeb syndrome30.3ATP13A2, PLA2G6
2neurodegeneration with brain iron accumulation 111.8
3hallermann-streiff syndrome10.9
4neuroaxonal dystrophy10.4
5dystonia10.2
6cerebellar ataxia10.1
7spastic paraplegia 35, autosomal recessive10.1
8neurodegeneration with brain iron accumulation 610.1
9neurodegeneration with brain iron accumulation 410.1
10neurodegeneration with brain iron accumulation 310.1
11neurodegeneration with brain iron accululation 510.1
12atypical pantothenate kinase-associated neurodegeneration10.1
13ferro-cerebro-cutaneous syndrome10.1
14klippel-feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism10.1ATP13A2, PANK2, PLA2G6
15dementia10.0
16neuroleptic malignant syndrome10.0
17lateral sclerosis10.0
18psychotic disorder10.0
19basal ganglia disease10.0
20encephalitis10.0
21ceroid storage disease10.0
22megalencephaly10.0
23rheumatic encephalitis10.0
24hereditary elliptocytosis10.0FA2H, PANK2, PLA2G6
25herpes simplex encephalitis 710.0C19orf12, FTL
26atransferrinemia10.0CP, PANK2
27vitamin metabolic disorder9.8CP, FA2H, FTL
28macrocytic anemia9.8CP, FA2H, FTL
29multifocal dystonia9.8C19orf12, FTL
30microsporidiosis9.7CP, PANK2
31morbid obesity and spermatogenic failure9.7C19orf12, FA2H, PANK2
32carpenter syndrome 29.6C19orf12, WDR45
33hirschsprung disease 79.6C19orf12, WDR45
34spastic cerebral palsy9.5C19orf12, WDR45
35corneal endothelial dystrophy 2, autosomal recessive8.8C19orf12, COASY, FA2H, FTL, PANK2, PLA2G6
36nonsyndromic disorders of testicular development6.9ATP13A2, 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

About this section

Human phenotypes related to Neurodegeneration with Brain Iron Accumulation Disorders:

 63 (show all 7)
id Description HPO Frequency HPO Source Accession
1 abnormality of iron homeostasis63 hallmark (90%) HP:0011031
2 retinopathy63 typical (50%) HP:0000488
3 optic atrophy63 typical (50%) HP:0000648
4 abnormality of extrapyramidal motor function63 typical (50%) HP:0002071
5 chorea63 typical (50%) HP:0002072
6 neurological speech impairment63 typical (50%) HP:0002167
7 aplasia/hypoplasia of the cerebellum63 typical (50%) HP:0007360

UMLS symptoms related to Neurodegeneration with Brain Iron Accumulation Disorders:


tic, motor, involuntary movements, stiffness, tremor, muscle spasticity, muscle rigidity, ataxia

Drugs & Therapeutics for Neurodegeneration with Brain Iron Accumulation Disorders

About this section

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

(show all 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
IronapprovedPhase 2, Phase 311237439-89-623925
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
DeferiproneapprovedPhase 2, Phase 35730652-11-02972
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
3Pharmaceutical SolutionsPhase 2, Phase 37793
4Iron Chelating AgentsPhase 2, Phase 3222
5Chelating AgentsPhase 2, Phase 31365
6Trace ElementsPhase 25802
7MicronutrientsPhase 25802

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

About this section

Genetic tests related to Neurodegeneration with Brain Iron Accumulation Disorders:

id Genetic test Affiliating Genes
1 Neurodegeneration with Brain Iron Accumulation26 24

Anatomical Context for Neurodegeneration with Brain Iron Accumulation Disorders

About this section

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

35
Brain, Cerebellum

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

About this section

Publications for Neurodegeneration with Brain Iron Accumulation Disorders

About this section

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

About this section

Expression for genes affiliated with Neurodegeneration with Brain Iron Accumulation Disorders

About this section
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

About this section

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

About this section

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

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet