HSS
MCID: NRD007
MIFTS: 46

Neurodegeneration with Brain Iron Accumulation (HSS) malady

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

Aliases & Classifications for Neurodegeneration with Brain Iron Accumulation

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Aliases & Descriptions for Neurodegeneration with Brain Iron Accumulation:

Name: Neurodegeneration with Brain Iron Accumulation 11 48 24 49 39 13
Nbia 11 23 48 24
Neurodegeneration with Brain Iron Accumulation Disorders 23 27
Hallervorden-Spatz Syndrome 24 68
 
Hallervorden-Spatz Disease 24
Nbia1 24
Hss 24

Classifications:



External Ids:

Disease Ontology11 DOID:0110734
ICD1030 G23.0
MeSH39 C538421

Summaries for Neurodegeneration with Brain Iron Accumulation

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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, also known as nbia, is related to kufor-rakeb syndrome and neurodegeneration with brain iron accumulation 1, and has symptoms including ataxia, muscle rigidity and muscle spasticity. An important gene associated with Neurodegeneration with Brain Iron Accumulation is C19orf12 (Chromosome 19 Open Reading Frame 12), and among its related pathways is Pantothenate and CoA biosynthesis. Affiliated tissues include brain, eye and globus pallidus.

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.  Symptoms, which vary greatly among patients and usually develop during childhood, may include dystonia (slow writhing, distorting muscle contractions of the limbs, face, or trunk), dysarthria (slurred or slow speech) choreoathetosis (involuntary, purposeless jerky muscle movements), muscle rigidity (uncontrolled tightness of the muscles), spasticity (sudden, involuntary muscle spasms), and/or ataxia (inability to coordinate movements), confusion, disorientation, seizures, stupor, and dementia.  Visual changes are also common, most often due to atrophy of the optic nerve (optic atrophy) or degeneration of the retinal layer in the back of the eye (retinal degeneration  Cognitive decline occurs in some forms of NBIA; the majority of individuals with NBIA do not have cognitive impairment.  Several genes have been found that cause NBIA.

Disease Ontology:11 A neurodegenerative disease characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and dystonia.

Wikipedia:71 Neurodegeneration with brain iron accumulation (NBIA) is a group of inherited neurological disorders in... more...

GeneReviews for NBK121988

Related Diseases for Neurodegeneration with Brain Iron Accumulation

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Diseases in the Neurodegeneration with Brain Iron Accumulation 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 2b

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

(show all 44)
idRelated DiseaseScoreTop Affiliating Genes
1kufor-rakeb syndrome31.5ATP13A2, PLA2G6
2neurodegeneration with brain iron accumulation 112.8
3neurodegeneration with brain iron accumulation 412.7
4neurodegeneration with brain iron accumulation 612.7
5neurodegeneration with brain iron accumulation 2b12.7
6neurodegeneration with brain iron accumulation 312.6
7neurodegeneration with brain iron accululation 512.2
8infantile neuroaxonal dystrophy 112.1
9mitochondrial membrane protein-associated neurodegeneration11.6
10coasy protein-associated neurodegeneration11.5
11karak syndrome11.4
12coasy-associated neurodegeneration11.4
13atypical pantothenate kinase-associated neurodegeneration11.3
14spastic paraplegia 35, autosomal recessive11.0
15hallermann-streiff syndrome10.9
16female breast cancer10.1C19orf12, WDR45
17cerebral folate receptor alpha deficiency10.1FA2H, FTL
18segmental dystonia10.1C19orf12, FTL
19glucose/galactose malabsorption10.1FA2H, PANK2, PLA2G6
20pupil disease10.0PANK2, PLA2G6, SNCA
21aceruloplasminemia10.0
22psychotic disorder10.0
23dystonia10.0
24waldenstroem's macroglobulinemia10.0ATP13A2, PANK2, PLA2G6
25cavernous hemangioma10.0FTL, PANK2, SNCA
26spinocerebellar ataxia, autosomal recessive 159.9C19orf12, FA2H, SNCA
27plekhm1-related autosomal recessive osteopetrosis9.9ATP13A2, SNCA
28thrombosis9.9ATP13A2, PLA2G6, SNCA
29mannosidosis9.9
30lateral sclerosis9.9
31neuronitis9.9
32juvenile amyotrophic lateral sclerosis9.9
33tremor9.9
34deafness, autosomal dominant 519.9FTL, PANK2, VPS13A
35spastic paraplegia 44, autosomal recessive9.8FA2H, PANK2, VPS13A
36chondrodysplasia punctata, x-linked dominant9.8C19orf12, COASY, PANK2, PLA2G6, WDR45
37hirschsprung disease 79.8C19orf12, COASY, PANK2, PLA2G6, WDR45
38sjogren's syndrome9.8FTL, VPS13A
39klippel-feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism9.7ATP13A2, C19orf12, PANK2, PLA2G6, SNCA
40herpes simplex encephalitis 79.6C19orf12, DCAF17, FA2H, FTL, PANK2, PLA2G6
41pachyonychia congenita 19.5C19orf12, COASY, DCAF17, PANK2, PLA2G6, VPS13A
42parkinson disease 14, autosomal recessive9.4ATP13A2, C19orf12, COASY, FA2H, FTL, PANK2
43corneal endothelial dystrophy 2, autosomal recessive9.3C19orf12, FA2H, FTL, PANK2, PLA2G6, SNCA
44hereditary spastic paraplegia 518.6ATP13A2, C19orf12, COASY, DCAF17, FA2H, FTL

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



Diseases related to neurodegeneration with brain iron accumulation

Symptoms & Phenotypes for Neurodegeneration with Brain Iron Accumulation

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Human phenotypes related to Neurodegeneration with Brain Iron Accumulation:

 64 (show all 10)
id Description HPO Frequency HPO Source Accession
1 retinopathy64 HP:0000488
2 optic atrophy64 HP:0000648
3 spasticity64 HP:0001257
4 dysarthria64 HP:0001260
5 cerebellar atrophy64 HP:0001272
6 dystonia64 HP:0001332
7 rigidity64 HP:0002063
8 abnormality of extrapyramidal motor function64 HP:0002071
9 chorea64 HP:0002072
10 iron accumulation in brain64 HP:0012675

UMLS symptoms related to Neurodegeneration with Brain Iron Accumulation:


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

Drugs & Therapeutics for Neurodegeneration with Brain Iron Accumulation

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

(show all 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
IronapprovedPhase 3, Phase 211657439-89-623925
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 3, Phase 25730652-11-02972
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 3, Phase 28192
4Iron Chelating AgentsPhase 3, Phase 2226
5Chelating AgentsPhase 3, Phase 21423
6Trace ElementsPhase 26001
7MicronutrientsPhase 26001

Interventional clinical trials:

idNameStatusNCT IDPhase
1A Two-arm Efficacy and Safety Study of Deferiprone in Patients With Pantothenate Kinase-associated Neurodegeneration (PKAN)CompletedNCT01741532Phase 3
2Efficacy and Safety of the Iron Chelator Deferiprone in Parkinson's DiseaseCompletedNCT00943748Phase 2, Phase 3
3Efficacy and Safety Study of Fosmetpantotenate (RE-024) in PKAN PatientsRecruitingNCT03041116Phase 3
4Long-term Deferiprone Treatment in Patients With Pantothenate Kinase-Associated NeurodegenerationActive, not recruitingNCT02174848Phase 3
5Ferrochelating Treatment in Patients Affected by Neurodegeneration With Brain Iron Accumulation (NBIA)Active, not recruitingNCT00907283Phase 2
6Brain Perfusion in Pantothenate Kinase-associated Neurodegeneration (PKAN)RecruitingNCT01838018
7NBIAready: Online Collection of Natural History Patient-reported Outcome MeasuresRecruitingNCT02587858
8Compassionate Use of Deferiprone in Patients With PKANAvailableNCT02635841

Search NIH Clinical Center for Neurodegeneration with Brain Iron Accumulation


Cochrane evidence based reviews: neurodegeneration with brain iron accumulation

Genetic Tests for Neurodegeneration with Brain Iron Accumulation

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Genetic tests related to Neurodegeneration with Brain Iron Accumulation:

id Genetic test Affiliating Genes
1 Neurodegeneration with Brain Iron Accumulation27 24

Anatomical Context for Neurodegeneration with Brain Iron Accumulation

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

36
Brain, Eye, Globus pallidus

Publications for Neurodegeneration with Brain Iron Accumulation

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Articles related to Neurodegeneration with Brain Iron Accumulation:

(show top 50)    (show all 59)
idTitleAuthorsYear
1
Psychotic Disorder in Neurodegeneration with Brain Iron Accumulation. (27732100)
Fall
2
A homozygous splice variant in AP4S1 mimicking neurodegeneration with brain iron accumulation. (28150420)
2017
3
Visual and ocular motor function in the atypical form of neurodegeneration with brain iron accumulation type I. (28487376)
2017
4
Review: Insights into molecular mechanisms of disease in neurodegeneration with brain iron accumulation: unifying theories. (25870938)
2016
5
Neurodegeneration with brain iron accumulation presenting motor trick and impaired motor cortical plasticity. (26773698)
2016
6
A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging. (27487380)
2016
7
Severe early basal ganglia hypometabolism in neurodegeneration with brain iron accumulation. (26993314)
2016
8
Neurodegeneration with brain iron accumulation (NBIA) formerly Hallervorden- Spatz disease. (27728536)
2016
9
Neurodegeneration with brain iron accumulation. (27487369)
2016
10
Neurodegeneration with Brain Iron Accumulation. (26739693)
2016
11
Mitochondrial dysfunction and defects in lipid homeostasis as therapeutic targets in neurodegeneration with brain iron accumulation. (27141409)
2016
12
Self-Mutilation in Neurodegeneration with Brain Iron Accumulation. (26120159)
2015
13
C19orf12 gene mutations in patients with neurodegeneration with brain iron accumulation. (25962551)
2015
14
Mitochondria: A crossroads for lipid metabolism defect in neurodegeneration with brain iron accumulation diseases. (25668476)
2015
15
Neurodegeneration with brain iron accumulation: diagnosis and management. (25614780)
2015
16
Analysis of the C19orf12 and WDR45 genes in patients with neurodegeneration with brain iron accumulation. (25592411)
2015
17
Role of A^a8,F-FDG PET imaging in paediatric primary dystonia and dystonia arising from neurodegeneration with brain iron accumulation. (25646707)
2015
18
Neurodegeneration with Brain Iron Accumulation: Genetic Diversity and Pathophysiological Mechanisms. (25973518)
2015
19
Aceruloplasminemia: neurodegeneration with brain iron accumulation (NBIA) associated with parkinsonism. (25413956)
2015
20
SCP2 mutations and neurodegeneration with brain iron accumulation. (26497993)
2015
21
Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation. (24360804)
2014
22
Proceedings of the third joint symposium on neuroacanthocytosis and neurodegeneration with brain iron accumulation: from benchside to bedside. (25621189)
2014
23
Ophthalmic features of PLA2G6-related paediatric neurodegeneration with brain iron accumulation. (24522175)
2014
24
Neurodegeneration with brain iron accumulation: an overview. (25657764)
2014
25
Efficacy and safety of deferiprone for the treatment of pantothenate kinase-associated neurodegeneration (PKAN) and neurodegeneration with brain iron accumulation (NBIA): results from a four years follow-up. (24661465)
2014
26
Clinical features of neurodegeneration with brain iron accumulation due to a C19orf12 gene mutation. (23494994)
2013
27
Pantothenate kinase-associated neurodegeneration (PKAN) and PLA2G6-associated neurodegeneration (PLAN): review of two major neurodegeneration with brain iron accumulation (NBIA) phenotypes. (24209433)
2013
28
PANK2 and C19orf12 mutations are common causes of neurodegeneration with brain iron accumulation. (23166001)
2013
29
Teaching NeuroImages: neurodegeneration with brain iron accumulation in aceruloplasminemia. (24218322)
2013
30
Psychotic Disorder in Neurodegeneration with Brain Iron Accumulation. (24047758)
2013
31
Neurodegeneration with Brain Iron Accumulation on MRI: An Adult Case of I+-Mannosidosis. (23430902)
2012
32
C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis. (22584950)
2012
33
C19orf12 and FA2H mutations are rare in Italian patients with neurodegeneration with brain iron accumulation. (22704260)
2012
34
Analysis of ATP13A2 in large neurodegeneration with brain iron accumulation (NBIA) and dystonia-parkinsonism cohorts. (22743658)
2012
35
Neurodegeneration with brain iron accumulation. (22691760)
2012
36
Coexistence of TDP-43 and tau pathology in neurodegeneration with brain iron accumulation type 1 (NBIA-1, formerly Hallervorden-Spatz syndrome). (21276079)
2011
37
Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation. (21981780)
2011
38
ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation. (20310007)
2010
39
Clinicopathological variability in neurodegeneration with brain iron accumulation. (20405671)
2010
40
Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA). (20853438)
2010
41
Clinical and genetic delineation of neurodegeneration with brain iron accumulation. (18981035)
2009
42
Iron accumulation in syndromes of neurodegeneration with brain iron accumulation 1 and 2: causative or consequential? (19147629)
2009
43
Adult-onset case of idiopathic neurodegeneration with brain iron accumulation without mutations in the PANK2 and PLA2G6 genes]. (19827596)
2009
44
Adult-onset neurodegeneration with brain iron accumulation and cortical alpha-synuclein and tau pathology: a distinct clinicopathological entity. (17296847)
2007
45
Neurodegeneration with brain iron accumulation: clinical, radiographic and genetic heterogeneity and corresponding therapeutic options. (17569231)
2007
46
Brain MRI in neurodegeneration with brain iron accumulation with and without PANK2 mutations. (16775270)
2006
47
PANK2 gene analysis confirms genetic heterogeneity in neurodegeneration with brain iron accumulation (NBIA) but mutations are rare in other types of adult neurodegenerative disease. (16962235)
2006
48
Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation. (16437574)
2006
49
Partial deficit of pantothenate kinase 2 catalytic activity in a case of tremor-predominant neurodegeneration with brain iron accumulation. (16450344)
2006
50
Neurodegeneration with brain iron accumulation: from genes to pathogenesis. (17101457)
2006

Variations for Neurodegeneration with Brain Iron Accumulation

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Expression for genes affiliated with Neurodegeneration with Brain Iron Accumulation

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

Pathways for genes affiliated with Neurodegeneration with Brain Iron Accumulation

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

idSuper pathwaysScoreTop Affiliating Genes
19.8COASY, PANK2

GO Terms for genes affiliated with Neurodegeneration with Brain Iron Accumulation

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Cellular components related to Neurodegeneration with Brain Iron Accumulation according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrionGO:00057398.6C19orf12, COASY, PANK2, PLA2G6, SNCA

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

idNameGO IDScoreTop Affiliating Genes
1coenzyme A biosynthetic processGO:001593710.3COASY, PANK2
2coenzyme biosynthetic processGO:000910810.3COASY, PANK2
3cellular iron ion homeostasisGO:000687910.1ATP13A2, FTL
4autophagyGO:00069149.5C19orf12, VPS13A, WDR45
5negative regulation of neuron deathGO:19012159.3ATP13A2, SNCA

Sources for Neurodegeneration with Brain Iron Accumulation

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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