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

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Aliases & Descriptions for Neurodegeneration with Brain Iron Accumulation Disorders:

Name: Neurodegeneration with Brain Iron Accumulation Disorders 23
Neurodegeneration with Brain Iron Accumulation 48 24 49 27
Nbia 23 48 24
Hallervorden-Spatz Syndrome 24 68
 
Hallervorden-Spatz Disease 24
Nbia1 24
Hss 24

Classifications:



Summaries for Neurodegeneration with Brain Iron Accumulation Disorders

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NIH Rare Diseases:48 Neurodegeneration with brain iron accumulation (NBIA) is a group of inherited neurologic disorders in which iron accumulates in the basal ganglia. Symptoms include progressive dystonia (a movement disorder resulting in muscular spasms, twisting, and repetitive movements) spasticity, parkinsonism (slurred or slow speech, stiffness of the muscles, slow movement, and visible tremors), inability to coordinate movements (ataxia), neuropsychiatric abnormalities (confusion, disorientation, seizures, stupor, dementia), and eye problems, such as optic atrophy or retinal degeneration. The age of onset ranges from infancy to late adulthood, and the rate of progression varies. Some subtypes have cognitive decline. Cerebellar atrophy is common in many cases. There are ten recognized types of NBIA, classified according to the altered gene that causes the disease. These genes include PANK2, PLA2G6, C19orf12, FA2H, ATP13A2, WDR45, COASY, FTL, CP and  DCAF17. Eight of the ten types of NBIA are inherited in an autosomal recessive manner. The type known as beta-propeller protein-associated neurodegeneration (BPAN), caused by mutations in the WDR45 gene, is inherited in an X-linked dominant manner. The neuroferritinopathy, caused by mutations in the FTL gene, is inherited in an autosomal dominant manner. There is no cure for NBIA. Treatment is symptomatic, and includes medication such as baclofen, trihexyphenidyl, botulinum toxin, and a procedure known as  deep brain stimulation to treat dystonia.  Levodopa and anticholinergic drugs may also bring some relief of parkinsonian symptoms. The NBIA Disorders Association has detailed information about NBIA.   Last updated: 1/20/2017

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.

NINDS:49 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.

GeneReviews 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 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 & Phenotypes for Neurodegeneration with Brain Iron Accumulation Disorders

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Human phenotypes related to Neurodegeneration with Brain Iron Accumulation Disorders:

 64 (show all 7)
id Description HPO Frequency HPO Source Accession
1 abnormality of iron homeostasis64 hallmark (90%) HP:0011031
2 retinopathy64 typical (50%) HP:0000488
3 optic atrophy64 typical (50%) HP:0000648
4 abnormality of extrapyramidal motor function64 typical (50%) HP:0002071
5 chorea64 typical (50%) HP:0002072
6 neurological speech impairment64 typical (50%) HP:0002167
7 aplasia/hypoplasia of the cerebellum64 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

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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

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Genetic tests related to Neurodegeneration with Brain Iron Accumulation Disorders:

id Genetic test Affiliating Genes
1 Neurodegeneration with Brain Iron Accumulation27 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:

36
Brain, Cerebellum

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 A biosynthetic processGO:00159379.8COASY, PANK2
2coenzyme biosynthetic processGO:00091089.6COASY, PANK2
3cellular iron ion homeostasisGO:00068799.6ATP13A2, 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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet