NBIA
MCID: NRD007
MIFTS: 52

Neurodegeneration with Brain Iron Accumulation (NBIA)

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

Aliases & Classifications for Neurodegeneration with Brain Iron Accumulation

MalaCards integrated aliases for Neurodegeneration with Brain Iron Accumulation:

Name: Neurodegeneration with Brain Iron Accumulation 12 20 53 58 36 29 6 44 15
Nbia 12 20 58
Neurodegeneration with Brain Iron Accumulation Disorders 25
Neurodegeneration, with Brain Iron Accumulation 39

Characteristics:

Orphanet epidemiological data:

58
neurodegeneration with brain iron accumulation
Inheritance: Autosomal dominant,Autosomal recessive,X-linked dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: Adolescent,Adult,Childhood,Infancy;

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110734
KEGG 36 H00833
MeSH 44 C538421
MESH via Orphanet 45 C538421
ICD10 via Orphanet 33 G23.0
UMLS via Orphanet 72 C2931845
Orphanet 58 ORPHA385
UMLS 71 C2931845

Summaries for Neurodegeneration with Brain Iron Accumulation

GARD : 20 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.

MalaCards based summary : Neurodegeneration with Brain Iron Accumulation, also known as nbia, is related to neurodegeneration with brain iron accumulation 4 and neurodegeneration with brain iron accumulation 6. An important gene associated with Neurodegeneration with Brain Iron Accumulation is REPS1 (RALBP1 Associated Eps Domain Containing 1), and among its related pathways/superpathways are Pantothenate and CoA biosynthesis and Neuroscience. The drugs Iron and Deferiprone have been mentioned in the context of this disorder. Affiliated tissues include brain, globus pallidus and eye, and related phenotypes are dystonia and iron accumulation in brain

Disease Ontology : 12 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.

NINDS : 53 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.  Several genes have been found that cause NBIA.  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) ataxia (inability to coordinate movements) confusion seizures stupor dementia visual changes  Cognitive decline occurs in some forms of NBIA; the majority of individuals with NBIA do not have cognitive impairment.

KEGG : 36 Neurodegeneration with brain iron accumulation (NBIA) is a group of progressive extrapyramidal and cognitive disorders characterized by iron accumulation predominantly in the globus pallidus, as well as extensive axonal spheroids in various regions of the brain. The most frequent genetic form is the pantothenate kinase-2 associated neurodegeneration (PKAN) with a mutation in the pantothenate kinase 2 (PANK2) gene. Other forms are associated with a mutation in phosphoslipase A2 (PLA2G6), and FTL (neuroferritinopathy). A significant proportion of children with an NBIA phenotype have no genetic diagnosis and there are additional as yet undiscovered genes that account for a number of these cases.

Wikipedia : 74 Neurodegeneration with brain iron accumulation is a heterogenous group of inherited neurological... more...

GeneReviews: NBK121988

Related Diseases for Neurodegeneration with Brain Iron Accumulation

Diseases in the Neurodegeneration with Brain Iron Accumulation family:

Neurodegeneration with Brain Iron Accumulation 1 Neurodegeneration with Brain Iron Accumulation 2a
Neurodegeneration with Brain Iron Accumulation 5 Neurodegeneration with Brain Iron Accumulation 3
Neurodegeneration with Brain Iron Accumulation 2b Neurodegeneration with Brain Iron Accumulation 4
Neurodegeneration with Brain Iron Accumulation 6 Neurodegeneration with Brain Iron Accumulation 7
Neurodegeneration with Brain Iron Accumulation 8

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

(show top 50) (show all 145)
# Related Disease Score Top Affiliating Genes
1 neurodegeneration with brain iron accumulation 4 33.6 WDR45 PLA2G6 PANK2 FTL FA2H DCAF17
2 neurodegeneration with brain iron accumulation 6 33.6 WDR45 PLA2G6 PANK2 FA2H DCAF17 COASY
3 neurodegeneration with brain iron accumulation 5 33.6 WDR45 PLA2G6 PANK2 FA2H DCAF17 COASY
4 neurodegeneration with brain iron accumulation 2b 33.5 PLA2G6 PANK2 FTL FA2H DCAF17 COASY
5 neurodegeneration with brain iron accumulation 2a 33.3 WDR45 PLA2G6 PANK2 FTL FA2H DCAF17
6 neurodegeneration with brain iron accumulation 3 33.3 WDR45 PLA2G6 PANK2 FTL FA2H DCAF17
7 neurodegeneration with brain iron accumulation 1 33.2 WDR45 VPS13A SNCA PLA2G6 PANK4 PANK2
8 spastic paraplegia 35, autosomal recessive 32.7 WDR45 PLA2G6 PANK2 FA2H DCAF17 COASY
9 kufor-rakeb syndrome 32.3 WDR45 SNCA PLA2G6 PANK2 FA2H DCAF17
10 dystonia 31.4 WDR45 VPS13A SLC39A14 PLA2G6 PANK2 FTL
11 neuroaxonal dystrophy 31.2 WDR45 SNCA PLA2G6 PANK2 FTL FA2H
12 paraplegia 31.2 FA2H DDHD1 C19orf12 ATP13A2
13 movement disease 31.1 WDR45 VPS13A SNCG SNCA PLA2G6 PANK2
14 alcohol-related neurodevelopmental disorder 31.0 WDR45 C19orf12
15 hereditary spastic paraplegia 31.0 PLA2G6 FA2H DDHD1 C19orf12 ATP13A2
16 choreoacanthocytosis 30.9 VPS13A PANK2 FTL CP C19orf12
17 aceruloplasminemia 30.7 WDR45 VPS13A TFRC SNCA SLC39A14 PLA2G6
18 iron metabolism disease 30.7 TFRC PANK2 FTL CP
19 parkinson disease, late-onset 30.7 SNCG SNCB SNCA PLA2G6 CP ATP13A2
20 dementia 30.7 SNCG SNCB SNCA ATP13A2
21 oromandibular dystonia 30.6 PLA2G6 PANK2 FA2H CP C19orf12 ATP13A2
22 choreatic disease 30.5 VPS13A SNCA PANK2 FTL CP C19orf12
23 acrocephalopolysyndactyly type iii 30.4 WDR45 PLA2G6 PANK2 FTL FA2H DCAF17
24 mitochondrial membrane protein-associated neurodegeneration 12.0
25 neurodegeneration with brain iron accumulation 7 11.9
26 neurodegeneration with brain iron accumulation 8 11.9
27 karak syndrome 11.5
28 woodhouse-sakati syndrome 11.3
29 striatonigral degeneration, infantile 11.3
30 parkinsonism 10.9
31 3-methylglutaconic aciduria, type iii 10.6
32 ataxia and polyneuropathy, adult-onset 10.6
33 spasticity 10.6
34 leukodystrophy 10.5
35 hemosiderosis 10.5
36 rare hereditary hemochromatosis 10.5
37 congenital disorder of glycosylation, type ip 10.4 PANK2 C19orf12
38 spastic paraplegia 43, autosomal recessive 10.4 PLA2G6 FA2H C19orf12
39 hypermanganesemia with dystonia 10.4 SLC39A14 ATP13A2
40 juvenile-onset parkinson's disease 10.4 SNCA ATP13A2
41 amyotrophic lateral sclerosis, juvenile, with dementia 10.4 SNCG SNCB
42 autosomal recessive disease 10.4
43 spastic paraplegia 38, autosomal dominant 10.4 TFRC FTL
44 spastic paraplegia 49, autosomal recessive 10.4 WDR45 DDHD1
45 dystonia 12 10.4 SLC39A14 PANK2 ATP13A2
46 cerebral degeneration 10.4 SNCA PLA2G6 FA2H
47 early-onset parkinson's disease 10.4 SNCA PLA2G6 C19orf12 ATP13A2
48 iron deficiency anemia 10.4 TFRC FTL CP
49 spastic paraplegia 18, autosomal recessive 10.4 FA2H DDHD1
50 spastic paraplegia 73, autosomal dominant 10.4 FA2H DDHD1

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

Human phenotypes related to Neurodegeneration with Brain Iron Accumulation:

58 31 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dystonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001332
2 iron accumulation in brain 58 31 hallmark (90%) Very frequent (99-80%) HP:0012675
3 spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0001257
4 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
5 chorea 58 31 frequent (33%) Frequent (79-30%) HP:0002072
6 optic atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000648
7 retinopathy 58 31 frequent (33%) Frequent (79-30%) HP:0000488
8 abnormality of extrapyramidal motor function 58 31 frequent (33%) Frequent (79-30%) HP:0002071
9 cerebellar atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0001272
10 rigidity 58 31 frequent (33%) Frequent (79-30%) HP:0002063

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.72 PANK4
2 Decreased viability GR00221-A-4 9.72 PANK2 PANK4
3 Decreased viability GR00240-S-1 9.72 COASY TFRC
4 Decreased viability GR00249-S 9.72 COASY CP CRAT FA2H PANK4 SNCA
5 Decreased viability GR00301-A 9.72 PANK2 PANK4
6 Decreased viability GR00342-S-2 9.72 PANK4
7 Decreased viability GR00381-A-1 9.72 FA2H WDR45
8 Decreased viability GR00386-A-1 9.72 ATP13A2 SLC39A14 VPS13A
9 Decreased viability GR00402-S-2 9.72 ATP13A2 PANK4 SNCG TFRC VPS13A

MGI Mouse Phenotypes related to Neurodegeneration with Brain Iron Accumulation:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.07 ATP13A2 COASY CP FA2H FTL PANK2
2 cellular MP:0005384 9.97 ATP13A2 COASY CP CRAT DCAF17 PANK2
3 homeostasis/metabolism MP:0005376 9.86 ATP13A2 COASY CP CRAT DDHD1 FA2H
4 nervous system MP:0003631 9.44 ATP13A2 COASY CP FA2H FTL PANK2

Drugs & Therapeutics for Neurodegeneration with Brain Iron Accumulation

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved Phase 2 7439-89-6 23925 29936
2
Deferiprone Approved Phase 2 30652-11-0 2972
3 Chelating Agents Phase 2
4 Pharmaceutical Solutions Phase 2
5 Iron Chelating Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Ferrochelating Treatment in Patients Affected by "Neurodegeneration With Brain Iron Accumulation" (NBIA) Active, not recruiting NCT00907283 Phase 2 Deferiprone
2 Brain Perfusion in Pantothenate Kinase-Associated Neurodegeneration (PKAN) Completed NCT01838018
3 NBIAready: Online Collection of Natural History Patient-reported Outcome Measures Recruiting NCT02587858

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

Genetic tests related to Neurodegeneration with Brain Iron Accumulation:

# Genetic test Affiliating Genes
1 Neurodegeneration with Brain Iron Accumulation 29 PANK4

Anatomical Context for Neurodegeneration with Brain Iron Accumulation

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

40
Brain, Globus Pallidus, Eye, Skin, Heart, Thalamus, Subthalamic Nucleus

Publications for Neurodegeneration with Brain Iron Accumulation

Articles related to Neurodegeneration with Brain Iron Accumulation:

(show top 50) (show all 435)
# Title Authors PMID Year
1
Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye. 25 61
28489334 2017
2
Lessons from a pair of siblings with BPAN. 25 61
26577041 2016
3
Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation. 25 61
24360804 2014
4
New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN. 25 61
23269600 2013
5
Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. 61 25
23176820 2012
6
Neuroimaging features of neurodegeneration with brain iron accumulation. 61 25
21920862 2012
7
Recessively inherited parkinsonism: effect of ATP13A2 mutations on the clinical and neuroimaging phenotype. 25 61
21060012 2010
8
Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA). 25 61
20853438 2010
9
ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation. 61 25
20310007 2010
10
Autosomal dominant mitochondrial membrane protein-associated neurodegeneration (MPAN). 25
31087512 2019
11
Consensus clinical management guideline for pantothenate kinase-associated neurodegeneration (PKAN). 25
28034613 2017
12
Timing, rates and spectra of human germline mutation. 25
26656846 2016
13
Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9). 25
21696388 2012
14
ATP13A2-related neurodegeneration (PARK9) without evidence of brain iron accumulation. 25
21469196 2011
15
Clinical spectrum of Kufor-Rakeb syndrome in the Chilean kindred with ATP13A2 mutations. 25
20683840 2010
16
Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35). 25
20104589 2010
17
Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia. 25
19068277 2008
18
A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23. 25
18463364 2008
19
Autosomal-recessive syndrome with alopecia, hypogonadism, progressive extra-pyramidal disorder, white matter disease, sensory neural deafness, diabetes mellitus, and low IGF1. 25
17167799 2007
20
Kufor Rakeb disease: autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia. 25
15986421 2005
21
Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. 25
12510040 2003
22
A syndrome of hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and ECG abnormalities. 25
6876115 1983
23
A severe form of autosomal recessive spinocerebellar ataxia associated with novel PMPCA variants. 61
33272776 2021
24
Neuropathological and biochemical investigation of Hereditary Ferritinopathy cases with ferritin light chain mutation: Prominent protein aggregation in the absence of major mitochondrial or oxidative stress. 61
32464705 2021
25
Pathogenic mechanism and modeling of neuroferritinopathy. 61
33439270 2021
26
Novel mutations in ATP13A2 associated with mixed neurological presentations and iron toxicity due to nonsense-mediated decay. 61
33091395 2021
27
SPG43 and ALS-like syndrome in the same family due to compound heterozygous mutations of the C19orf12 gene: a case description and brief review. 61
33394258 2021
28
Generation of a human induced pluripotent stem cell (iPSC) line (IBMS-iPSC-070-02) from a patient with neurodegeneration with brain iron accumulation (NBIA) having compound heterozygous mutations in PANK2 gene. 61
33517123 2021
29
Reprogramming of a human induced pluripotent stem cell (iPSC) line from a patient with neurodegeneration with brain iron accumulation (NBIA) harboring a novel frameshift mutation in C19orf12 gene. 61
33068888 2020
30
Exploring Yeast as a Study Model of Pantothenate Kinase-Associated Neurodegeneration and for the Identification of Therapeutic Compounds. 61
33396642 2020
31
Neuronal Ablation of CoA Synthase Causes Motor Deficits, Iron Dyshomeostasis, and Mitochondrial Dysfunctions in a CoPAN Mouse Model. 61
33352696 2020
32
Altered homodimer formation and increased iron accumulation in VAC14-related disease: Case report and review of the literature. 61
32949958 2020
33
Is there heart disease in cases of neurodegeneration associated with mutations in C19orf12? 61
32932022 2020
34
Overdosing on iron: Elevated iron and degenerative brain disorders. 61
32878460 2020
35
Novel dominant MPAN family with a complex genetic architecture as a basis for phenotypic variability. 61
33134513 2020
36
Mitochondrial Dysfunction, Oxidative Stress and Neuroinflammation in Neurodegeneration with Brain Iron Accumulation (NBIA). 61
33092153 2020
37
Clinical features and blood iron metabolism markers in children with beta-propeller protein associated neurodegeneration. 61
32811771 2020
38
Management of rare movement disorders in Europe: outcome of surveys of the European Reference Network for Rare Neurological Diseases. 61
32386078 2020
39
Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect. 61
32767480 2020
40
Endocrine Abnormalities in a Case of Neurodegeneration with Brain Iron Accumulation. 61
32775522 2020
41
MRI of neurodegeneration with brain iron accumulation. 61
32657887 2020
42
Phenotypic and Imaging Spectrum Associated With WDR45. 61
32387008 2020
43
Mutational and phenotypic expansion of ATP1A3-related disorders: Report of nine cases. 61
32339621 2020
44
Severe Obsessive-Compulsive Disorder Secondary to Neurodegeneration With Brain Iron Accumulation: Complete Remission After Subthalamic Nuclei Deep Brain Stimulation. 61
31472980 2020
45
[A case of novel WDR45 mutation with beta-propeller protein-associated neurodegeneration (BPAN) presenting asymmetrical extrapyramidal signs]. 61
32307390 2020
46
Neuropsychological functions and psychiatric symptoms in late-onset manifestation of pantothenate kinase-associated neurodegeneration: a clinical case report. 61
31738088 2020
47
ACR Appropriateness Criteria® Movement Disorders and Neurodegenerative Diseases. 61
32370961 2020
48
Differential response to pallidal deep brain stimulation among monogenic dystonias: systematic review and meta-analysis. 61
32079672 2020
49
Serial MRI alterations of pediatric patients with beta-propeller protein associated neurodegeneration (BPAN). 61
32335071 2020
50
Infantile onset progressive cerebellar atrophy and anterior horn cell Degeneration-A novel phenotype associated with mutations in the PLA2G6 gene. 61
31689548 2020

Variations for Neurodegeneration with Brain Iron Accumulation

ClinVar genetic disease variations for Neurodegeneration with Brain Iron Accumulation:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CRAT NM_000755.5(CRAT):c.962G>A (p.Arg321His) SNV Pathogenic 503495 rs138665095 9:131862812-131862812 9:129100533-129100533
2 REPS1 NM_001286611.1(REPS1):c.338C>A (p.Ala113Glu) SNV Pathogenic 503504 rs201191394 6:139266774-139266774 6:138945637-138945637
3 ATP13A2 NM_022089.4(ATP13A2):c.477+2T>G SNV Likely pathogenic 546591 rs758014228 1:17331185-17331185 1:17004690-17004690
4 PLA2G6 NM_003560.4(PLA2G6):c.1911del (p.Ser637fs) Deletion Likely pathogenic 183302 rs730882214 22:38511657-38511657 22:38115650-38115650
5 WDR45 NM_001029896.2(WDR45):c.827+1G>A SNV not provided 265508 rs1557083958 X:48933022-48933022 X:49075363-49075363

Expression for Neurodegeneration with Brain Iron Accumulation

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

Pathways for Neurodegeneration with Brain Iron Accumulation

Pathways related to Neurodegeneration with Brain Iron Accumulation according to KEGG:

36
# Name Kegg Source Accession
1 Pantothenate and CoA biosynthesis hsa00770

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

# Super pathways Score Top Affiliating Genes
1 11.79 SNCB SNCA PANK4 ATP13A2
2 10.54 TFRC SLC39A14 FTL CP
3 10.48 PANK2 COASY

GO Terms for Neurodegeneration with Brain Iron Accumulation

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.8 VPS13A SNCA PLA2G6 PANK2 CRAT COASY
2 cytosol GO:0005829 9.77 WDR45 VPS13A SNCB SNCA REPS1 PLA2G6
3 lysosomal membrane GO:0005765 9.46 VPS13A SLC39A14 CP ATP13A2
4 inclusion body GO:0016234 9.32 SNCB SNCA
5 axon terminus GO:0043679 8.8 SNCG SNCB SNCA

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 autophagy GO:0006914 9.67 WDR45 VPS13A C19orf12 ATP13A2
2 membrane organization GO:0061024 9.65 TFRC SNCA REPS1
3 synapse organization GO:0050808 9.58 SNCG SNCB SNCA
4 synaptic vesicle endocytosis GO:0048488 9.5 SNCG SNCB SNCA
5 positive regulation of exocytosis GO:0045921 9.49 SNCA PLA2G6
6 regulation of neurotransmitter secretion GO:0046928 9.46 SNCG SNCA
7 cellular iron ion homeostasis GO:0006879 9.46 TFRC FTL CP ATP13A2
8 dopamine metabolic process GO:0042417 9.43 SNCB SNCA
9 regulation of neuron death GO:1901214 9.43 SNCG SNCB SNCA
10 coenzyme A biosynthetic process GO:0015937 9.13 PANK4 PANK2 COASY
11 iron ion transport GO:0006826 8.92 TFRC SLC39A14 FTL CP

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

# Name GO ID Score Top Affiliating Genes
1 pantothenate kinase activity GO:0004594 8.96 PANK4 PANK2
2 cuprous ion binding GO:1903136 8.8 SNCG SNCB SNCA

Sources for Neurodegeneration with Brain Iron Accumulation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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