Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect TGex
News and Views Disease Lists/Categories
About
About MalaCards Datasets Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
NBIA
MCID: NRD007
MIFTS: 52

Neurodegeneration with Brain Iron Accumulation (NBIA)

Categories: Eye diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Neurodegeneration with Brain Iron Accumulation

About this section

MalaCards integrated aliases for Neurodegeneration with Brain Iron Accumulation:

Name: Neurodegeneration with Brain Iron Accumulation 12 52 53 58 36 29 6 43 15
Nbia 12 52 58
Neurodegeneration with Brain Iron Accumulation Disorders 24
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:

MalaCards categories:
Global: Rare diseases Genetic diseases Metabolic diseases
Anatomical: Neuronal diseases Eye diseases Mental diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110734
KEGG 36 H00833
MeSH 43 C538421
MESH via Orphanet 44 C538421
ICD10 via Orphanet 33 G23.0
UMLS via Orphanet 72 C2931845
Orphanet 58 ORPHA385
UMLS 71 C2931845
Sources

Summaries for Neurodegeneration with Brain Iron Accumulation

About this section
NIH Rare Diseases : 52 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 6 and neurodegeneration with brain iron accumulation 5. An important gene associated with Neurodegeneration with Brain Iron Accumulation is WDR45 (WD Repeat Domain 45), 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, eye and globus pallidus, 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.  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.

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
Sources

Related Diseases for Neurodegeneration with Brain Iron Accumulation

About this section

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 141)
# Related Disease Score Top Affiliating Genes
1 neurodegeneration with brain iron accumulation 6 35.6 WDR45 PLA2G6 PANK2 FA2H DCAF17 COASY
2 neurodegeneration with brain iron accumulation 5 35.5 WDR45 PLA2G6 PANK2 FTL FA2H DCAF17
3 neurodegeneration with brain iron accumulation 4 35.5 WDR45 PLA2G6 PANK2 FTL FA2H DCAF17
4 neurodegeneration with brain iron accumulation 2b 35.4 WDR45 PLA2G6 PANK2 FTL FA2H DCAF17
5 neurodegeneration with brain iron accumulation 2a 35.3 WDR45 SNCA PLA2G6 PANK2 FTL FA2H
6 neurodegeneration with brain iron accumulation 3 35.3 WDR45 PLA2G6 PANK2 FTL FA2H DCAF17
7 neurodegeneration with brain iron accumulation 1 35.1 WDR45 VPS13A SNCA PLA2G6 PANK4 PANK2
8 spastic paraplegia 35, autosomal recessive 33.7 WDR45 PLA2G6 PANK2 FA2H DCAF17 COASY
9 kufor-rakeb syndrome 33.2 WDR45 SNCA PLA2G6 PANK2 FTL FA2H
10 dystonia 31.7 WDR45 VPS13A SLC39A14 PLA2G6 PANK2 FTL
11 movement disease 31.5 VPS13A SNCG SNCA PLA2G6 PANK2 FTL
12 hemosiderosis 31.5 TFRC FTL CP
13 paraplegia 31.3 FA2H DDHD1 C19orf12 ATP13A2
14 neuroaxonal dystrophy 31.3 WDR45 SNCA PLA2G6 PANK2 FTL FA2H
15 alcohol-related neurodevelopmental disorder 31.2 WDR45 C19orf12
16 hereditary spastic paraplegia 31.2 PLA2G6 FA2H DDHD1 C19orf12 ATP13A2
17 choreoacanthocytosis 31.1 VPS13A PANK2 FTL CP C19orf12
18 aceruloplasminemia 31.1 WDR45 VPS13A TFRC SNCA SLC39A14 PLA2G6
19 parkinson disease 14, autosomal recessive 31.0 SNCA PLA2G6
20 choreatic disease 30.9 VPS13A PANK2 FTL CP
21 iron metabolism disease 30.9 TFRC PANK2 FTL CP
22 oromandibular dystonia 30.9 VPS13A PLA2G6 PANK2 CP C19orf12
23 parkinson disease, late-onset 30.9 SNCG SNCB SNCA PLA2G6 CP ATP13A2
24 dementia 30.8 SNCG SNCB SNCA CP ATP13A2
25 neurodegeneration with brain iron accumulation 7 13.1
26 neurodegeneration with brain iron accumulation 8 13.1
27 mitochondrial membrane protein-associated neurodegeneration 12.6
28 woodhouse-sakati syndrome 11.8
29 karak syndrome 11.7
30 striatonigral degeneration, infantile 11.4
31 spastic paraplegia 43, autosomal recessive 10.6 PLA2G6 FA2H C19orf12
32 hypermanganesemia with dystonia 10.6 SLC39A14 ATP13A2
33 amyotrophic lateral sclerosis, juvenile, with dementia 10.6 SNCG SNCB
34 spastic paraplegia 49, autosomal recessive 10.6 WDR45 DDHD1
35 juvenile-onset parkinson's disease 10.6 SNCA ATP13A2
36 basal ganglia disease 10.6 VPS13A PANK2 FTL CRAT
37 spastic paraplegia 18, autosomal recessive 10.6 FA2H DDHD1
38 cerebral degeneration 10.6 SNCA PLA2G6 PANK2 FA2H
39 dystonia 12 10.6 SNCA SLC39A14 PANK2 ATP13A2
40 early-onset parkinson's disease 10.6 SNCA PLA2G6 PANK2 C19orf12 ATP13A2
41 iron deficiency anemia 10.6 TFRC FTL CP
42 spastic paraplegia 73, autosomal dominant 10.6 FA2H DDHD1
43 metal metabolism disorder 10.6 TFRC SLC39A14 FTL CP
44 multiple system atrophy 1 10.6 SNCG SNCB SNCA
45 spastic paraplegia 28, autosomal recessive 10.6 FA2H DDHD1
46 3-methylglutaconic aciduria, type iii 10.6
47 spasticity 10.6
48 spastic paraplegia 54, autosomal recessive 10.6 FA2H DDHD1
49 dementia, lewy body 10.5 SNCG SNCB SNCA ATP13A2
50 deficiency anemia 10.5 TFRC SLC39A14 FTL CP

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



Diseases related to Neurodegeneration with Brain Iron Accumulation
Sources

Symptoms & Phenotypes for Neurodegeneration with Brain Iron Accumulation

About this section

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 optic atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000648
4 retinopathy 58 31 frequent (33%) Frequent (79-30%) HP:0000488
5 spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0001257
6 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
7 abnormality of extrapyramidal motor function 58 31 frequent (33%) Frequent (79-30%) HP:0002071
8 chorea 58 31 frequent (33%) Frequent (79-30%) HP:0002072
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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.03 ATP13A2 CP FA2H FTL PANK2 PLA2G6
2 cellular MP:0005384 9.93 ATP13A2 CP CRAT DCAF17 PANK2 PLA2G6
3 homeostasis/metabolism MP:0005376 9.83 ATP13A2 CP CRAT DDHD1 FA2H FTL
4 nervous system MP:0003631 9.4 ATP13A2 CP FA2H FTL PANK2 PLA2G6
Sources

Drugs & Therapeutics for Neurodegeneration with Brain Iron Accumulation

About this section

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

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved, Experimental Phase 2, Phase 3 15438-31-0, 7439-89-6 27284 23925
2
Deferiprone Approved Phase 2, Phase 3 30652-11-0 2972
3 Chelating Agents Phase 2, Phase 3
4 Pharmaceutical Solutions Phase 2, Phase 3
5 Iron Chelating Agents Phase 2, Phase 3
6 Strawberry Approved
7
Vitamin A Approved, Nutraceutical, Vet_approved 22737-96-8, 68-26-8, 11103-57-4 9904001 445354
8 Vitamins
9 Retinol palmitate
10 retinol

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Long-term Safety and Efficacy Study of Deferiprone in Patients With Pantothenate Kinase-Associated Neurodegeneration (PKAN) Completed NCT02174848 Phase 3 Deferiprone oral solution
2 A Randomized, Double-blind, Placebo-controlled Trial of Deferiprone in Patients With Pantothenate Kinase-associated Neurodegeneration (PKAN) Completed NCT01741532 Phase 3 Deferiprone oral solution;Placebo
3 Efficacy and Safety of the Iron Chelator Deferiprone on Iron Overload in the Brain in Parkinson's Disease Completed NCT00943748 Phase 2, Phase 3 deferiprone;placebo
4 Ferrochelating Treatment in Patients Affected by "Neurodegeneration With Brain Iron Accumulation" (NBIA) Active, not recruiting NCT00907283 Phase 2 Deferiprone
5 Brain Perfusion in Pantothenate Kinase-Associated Neurodegeneration (PKAN) Completed NCT01838018
6 NBIAready: Online Collection of Natural History Patient-reported Outcome Measures Recruiting NCT02587858
7 A Phase 2 Study of a Vitamin Metabolite for PKAN Recruiting NCT04182763
8 Protocol RT001-009: A Natural History Study of Infantile Neuroaxonal Dystrophy Recruiting NCT04027816
9 The Compassionate Use of Deferiprone in Patients With Pantothenate Kinase-Associated Neurodegeneration Available NCT02635841 Deferiprone
10 European Registry on Rare Neurological Diseases Not yet recruiting NCT04319796

Search NIH Clinical Center for Neurodegeneration with Brain Iron Accumulation

Cochrane evidence based reviews: neurodegeneration with brain iron accumulation

Sources

Genetic Tests for Neurodegeneration with Brain Iron Accumulation

About this section

Genetic tests related to Neurodegeneration with Brain Iron Accumulation:

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

Anatomical Context for Neurodegeneration with Brain Iron Accumulation

About this section

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

40
Brain, Eye, Globus Pallidus, Skin, Bone, Thalamus, Subthalamic Nucleus
Sources

Publications for Neurodegeneration with Brain Iron Accumulation

About this section

Articles related to Neurodegeneration with Brain Iron Accumulation:

(show top 50) (show all 417)
# Title Authors PMID Year
1
Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye. 24 61
28489334 2017
2
Lessons from a pair of siblings with BPAN. 24 61
26577041 2016
3
Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation. 24 61
24360804 2014
4
New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN. 24 61
23269600 2013
5
Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. 61 24
23176820 2012
6
Neuroimaging features of neurodegeneration with brain iron accumulation. 61 24
21920862 2012
7
Recessively inherited parkinsonism: effect of ATP13A2 mutations on the clinical and neuroimaging phenotype. 61 24
21060012 2010
8
Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA). 24 61
20853438 2010
9
ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation. 24 61
20310007 2010
10
Autosomal dominant mitochondrial membrane protein-associated neurodegeneration (MPAN). 24
31087512 2019
11
Consensus clinical management guideline for pantothenate kinase-associated neurodegeneration (PKAN). 24
28034613 2017
12
Timing, rates and spectra of human germline mutation. 24
26656846 2016
13
Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9). 24
21696388 2012
14
ATP13A2-related neurodegeneration (PARK9) without evidence of brain iron accumulation. 24
21469196 2011
15
Clinical spectrum of Kufor-Rakeb syndrome in the Chilean kindred with ATP13A2 mutations. 24
20683840 2010
16
Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35). 24
20104589 2010
17
Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia. 24
19068277 2008
18
A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23. 24
18463364 2008
19
Autosomal-recessive syndrome with alopecia, hypogonadism, progressive extra-pyramidal disorder, white matter disease, sensory neural deafness, diabetes mellitus, and low IGF1. 24
17167799 2007
20
Kufor Rakeb disease: autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia. 24
15986421 2005
21
Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. 24
12510040 2003
22
A syndrome of hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and ECG abnormalities. 24
6876115 1983
23
Mutational and phenotypic expansion of ATP1A3-related disorders: Report of nine cases. 61
32339621 2020
24
Severe Obsessive-Compulsive Disorder Secondary to Neurodegeneration With Brain Iron Accumulation: Complete Remission After Subthalamic Nuclei Deep Brain Stimulation. 61
31472980 2020
25
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 2020
26
[A case of novel WDR45 mutation with beta-propeller protein-associated neurodegeneration (BPAN) presenting asymmetrical extrapyramidal signs]. 61
32307390 2020
27
Neuropsychological functions and psychiatric symptoms in late-onset manifestation of pantothenate kinase-associated neurodegeneration: a clinical case report. 61
31738088 2020
28
ACR Appropriateness Criteria® Movement Disorders and Neurodegenerative Diseases. 61
32370961 2020
29
Management of rare movement disorders in Europe: outcome of surveys of the European Reference Network for Rare Neurological Diseases. 61
32386078 2020
30
Serial MRI alterations of pediatric patients with beta-propeller protein associated neurodegeneration (BPAN). 61
32335071 2020
31
Differential response to pallidal deep brain stimulation among monogenic dystonias: systematic review and meta-analysis. 61
32079672 2020
32
Infantile onset progressive cerebellar atrophy and anterior horn cell Degeneration-A novel phenotype associated with mutations in the PLA2G6 gene. 61
31689548 2020
33
Oxidative Stress, a Crossroad Between Rare Diseases and Neurodegeneration. 61
32326494 2020
34
NBIA: a network-based integrative analysis framework - applied to pathway analysis. 61
32144346 2020
35
Idiopathic brain calcification in a patient with hereditary hemochromatosis. 61
32228506 2020
36
Different cortical excitability profiles in hereditary brain iron and copper accumulation. 61
31773358 2020
37
Phenotypic and Imaging Spectrum Associated With WDR45. 61
32387008 2020
38
Early-onset presentation of a new subtype of β-Propeller protein-associated neurodegeneration (BPAN) caused by a de novo WDR45 deletion in a 6 year-old female patient. 61
31536831 2020
39
Palliative care in 9 children with neurodegeneration with brain iron accumulation. 61
31758347 2020
40
Childhood Dystonia-Parkinsonism Following Infantile Spasms-Clinical Clue to Diagnosis in Early Beta-Propeller Protein-Associated Neurodegeneration. 61
31505688 2020
41
Nosology and Phenomenology of Psychosis in Movement Disorders. 61
32071931 2020
42
Novel biallelic FA2H mutations in a Japanese boy with fatty acid hydroxylase-associated neurodegeneration. 61
31837835 2020
43
CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome. 61
31448845 2020
44
VAC14 syndrome in two siblings with retinitis pigmentosa and neurodegeneration with brain iron accumulation. 61
31387860 2019
45
A new NBIA patient from Turkey with homozygous C19ORF12 mutation. 61
30298423 2019
46
Brain iron transport. 61
31190441 2019
47
Cortical pencil lining on SWI MRI in NBIA and healthy aging. 61
31607263 2019
48
[Pedigree analysis of C19ORF12 p.Asp18Tyr mutation in a family with mitochondrial membrane protein associated neurodegeneration]. 61
31607023 2019
49
Neurodegeneration with brain iron accumulation: Insights into the mitochondria dysregulation. 61
31404774 2019
50
Single-center experience with Beta-propeller protein-associated neurodegeneration (BPAN); expanding the phenotypic spectrum. 61
31293896 2019
Sources

Variations for Neurodegeneration with Brain Iron Accumulation

About this section

ClinVar genetic disease variations for Neurodegeneration with Brain Iron Accumulation:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 REPS1 NM_031922.4(REPS1):c.338C>A (p.Ala113Glu)SNV Pathogenic 503504 rs201191394 6:139266774-139266774 6:138945637-138945637
2 WDR45 NM_001029896.2(WDR45):c.827+1G>ASNV Pathogenic 265508 rs1557083958 X:48933022-48933022 X:49075363-49075363
3 CRAT NM_000755.5(CRAT):c.962G>A (p.Arg321His)SNV Pathogenic/Likely pathogenic 503495 rs138665095 9:131862812-131862812 9:129100533-129100533
4 PLA2G6 NM_003560.4(PLA2G6):c.1911del (p.Ser637fs)deletion Likely pathogenic 183302 rs730882214 22:38511657-38511657 22:38115650-38115650
Sources

Expression for Neurodegeneration with Brain Iron Accumulation

About this section
Search GEO for disease gene expression data for Neurodegeneration with Brain Iron Accumulation.
Sources

Pathways for Neurodegeneration with Brain Iron Accumulation

About this section

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
Neuroscience 4
11.99 SNCB SNCA PANK4 ATP13A2
2
Ferroptosis 36
10.54 TFRC SLC39A14 FTL CP
3
Pantothenate and CoA biosynthesis 36
10.41 PANK4 PANK2 COASY
Sources

GO Terms for Neurodegeneration with Brain Iron Accumulation

About this section

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

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.77 WDR45 VPS13A SNCB SNCA REPS1 PLA2G6
2 lysosomal membrane GO:0005765 9.46 VPS13A SLC39A14 CP ATP13A2
3 inclusion body GO:0016234 9.26 SNCB SNCA
4 cell GO:0005623 9.23 VPS13A TFRC SNCA SLC39A14 PLA2G6 FTL

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

# Name GO ID Score Top Affiliating Genes
1 membrane organization GO:0061024 9.63 TFRC SNCA REPS1
2 autophagy GO:0006914 9.56 WDR45 VPS13A C19orf12 ATP13A2
3 synapse organization GO:0050808 9.5 SNCG SNCB SNCA
4 positive regulation of exocytosis GO:0045921 9.48 SNCA PLA2G6
5 cellular iron ion homeostasis GO:0006879 9.46 TFRC FTL CP ATP13A2
6 regulation of neurotransmitter secretion GO:0046928 9.43 SNCG SNCA
7 dopamine metabolic process GO:0042417 9.4 SNCB SNCA
8 coenzyme biosynthetic process GO:0009108 9.37 PANK2 COASY
9 coenzyme A biosynthetic process GO:0015937 9.13 PANK4 PANK2 COASY
10 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 ferrous iron binding GO:0008198 9.16 SNCA FTL
2 cuprous ion binding GO:1903136 8.96 SNCB SNCA
3 pantothenate kinase activity GO:0004594 8.62 PANK4 PANK2
Sources

Sources for Neurodegeneration with Brain Iron Accumulation

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Content
Loading form....