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
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Aliases & Classifications for Neurodegeneration with Brain Iron Accumulation

MalaCards integrated aliases for Neurodegeneration with Brain Iron Accumulation:

Name: Neurodegeneration with Brain Iron Accumulation 11 19 52 58 28 5 43 14 75
Nbia 11 19 58
Neurodegeneration with Brain Iron Accumulation Disorders 24
Neurodegeneration, with Brain Iron Accumulation 38

Characteristics:


Inheritance:

Autosomal dominant,Autosomal recessive,X-linked dominant 58

Prevelance:

1-9/1000000 (Europe) 58

Age Of Onset:

Adolescent,Adult,Childhood,Infancy 58

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 11 DOID:0110734
MeSH 43 C538421
MESH via Orphanet 44 C538421
ICD10 via Orphanet 32 G23.0
UMLS via Orphanet 72 C2931845
Orphanet 58 ORPHA385
UMLS 71 C2931845

Summaries for Neurodegeneration with Brain Iron Accumulation

GARD: 19 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. 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 genetic changes in the WDR45 gene, is inherited in an X-linked dominant manner. The neuroferritinopathy, caused by genetic changes in the FTL gene, is inherited in an autosomal dominant manner.

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 4. An important gene associated with Neurodegeneration with Brain Iron Accumulation is C19orf12 (Chromosome 19 Open Reading Frame 12), and among its related pathways/superpathways are Alzheimer's disease and miRNA effects and Selective autophagy. 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

NINDS: 52 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.

Orphanet: 58 Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system.

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: 75 Neurodegeneration with brain iron accumulation is a heterogenous group of inherited neurodegenerative... 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 139)
# Related Disease Score Top Affiliating Genes
1 neurodegeneration with brain iron accumulation 6 33.9 PANK2 COASY
2 neurodegeneration with brain iron accumulation 4 33.8 WDR45 PLA2G6 PANK2 FA2H DCAF17 C19orf12
3 neurodegeneration with brain iron accumulation 2a 33.8 WDR45 PLA2G6 PANK2 FTL FA2H DCAF17
4 neurodegeneration with brain iron accumulation 5 33.7 WIPI2 WIPI1 WDR45 RB1CC1 PLA2G6 PANK2
5 neurodegeneration with brain iron accumulation 1 33.7 WDR45 SNCA PLA2G6 PANK4 PANK2 FTL
6 neurodegeneration with brain iron accumulation 2b 33.7 WDR45 REPS1 PLA2G6 PANK2 GTPBP2 FTL
7 neurodegeneration with brain iron accumulation 3 33.7 WDR45 PLA2G6 PANK2 GTPBP2 FTL FA2H
8 kufor-rakeb syndrome 32.7 WDR45 SNCA PLA2G6 PANK2 FA2H DCAF17
9 woodhouse-sakati syndrome 32.6 WDR45 REPS1 PLA2G6 PANK2 GTPBP2 FTL
10 aceruloplasminemia 32.6 WDR45 SNCA SLC39A14 REPS1 PLA2G6 PANK2
11 iron metabolism disease 32.2 PANK2 FTL CP
12 dystonia 31.9 WDR45 SNCA SLC39A14 PLA2G6 PANK2 FTL
13 parkinsonism 31.9 WDR45 SNCA SLC39A14 PLA2G6 PANK2 FTL
14 movement disease 31.7 WDR45 SNCA PLA2G6 PANK2 FTL CP
15 dementia, lewy body 31.6 SNCA PLA2G6 ATP13A2
16 hereditary spastic paraplegia 35 31.5 WDR45 PLA2G6 PANK2 FA2H DCAF17 COASY
17 neuroaxonal dystrophy 31.5 WDR45 SNCA PLA2G6 PANK2 FTL FA2H
18 dystonia 12 31.3 SLC39A14 PANK2 ATP13A2
19 hereditary spastic paraplegia 31.3 WDR45 SNCA PLA2G6 PANK2 FA2H DCAF17
20 neuronal ceroid lipofuscinosis 31.2 SNCA PLA2G6 PANK2 C19orf12 ATP13A2
21 alcohol-related neurodevelopmental disorder 31.1 WDR45 PLA2G6 PANK2 C19orf12
22 spastic paraplegia 43, autosomal recessive 31.0 FA2H C19orf12
23 choreatic disease 31.0 SNCA PANK2 FTL CP
24 parkinson disease 15, autosomal recessive early-onset 31.0 WDR45 SNCA PLA2G6 PANK2 FA2H C19orf12
25 neuroacanthocytosis 30.9 PANK2 CP
26 oromandibular dystonia 30.8 PLA2G6 PANK2 COASY C19orf12
27 mitochondrial membrane protein-associated neurodegeneration 12.1
28 neurodegeneration with brain iron accumulation 7 12.0
29 neurodegeneration with brain iron accumulation 8 12.0
30 spastic paraplegia 35, autosomal recessive, with or without neurodegeneration 11.7
31 karak syndrome 11.5
32 spasticity 10.7
33 3-methylglutaconic aciduria, type iii 10.7
34 retinitis pigmentosa 10.5
35 leukodystrophy 10.5
36 parkinson disease 3, autosomal dominant 10.4 SNCA PLA2G6 ATP13A2
37 cerebral degeneration 10.4 SNCA PLA2G6 PANK2 FA2H
38 gaucher disease, type i 10.4 SNCA PLA2G6 ATP13A2
39 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.4
40 paraplegia 10.4
41 metal metabolism disorder 10.4 SLC39A14 FTL CP
42 early-onset parkinson's disease 10.4 WDR45 SNCA PLA2G6 PANK2 FA2H DCAF17
43 juvenile-onset parkinson's disease 10.4 SNCA ATP13A2
44 vascular parkinsonism 10.4 SNCA ATP13A2
45 hemochromatosis, type 1 10.4 SLC39A14 PANK2 FTL CP
46 parkinsonism with spasticity, x-linked 10.4 WDR45 ATP13A2
47 spastic paraplegia 20, autosomal recessive 10.4
48 late-onset retinal degeneration 10.4
49 peripheral retinal degeneration 10.4
50 retinitis 10.4

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

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.15 ATP13A2 C19orf12 COASY CP CRAT DCAF17
2 no effect GR00402-S-2 10.15 C19orf12 COASY CP CRAT DCAF17 FA2H

MGI Mouse Phenotypes related to Neurodegeneration with Brain Iron Accumulation:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.9 ATP13A2 COASY CP FA2H FTL GTPBP2
2 homeostasis/metabolism MP:0005376 9.77 ATP13A2 COASY CP CRAT FA2H FTL
3 cellular MP:0005384 9.44 ATP13A2 COASY CP CRAT DCAF17 GTPBP2

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 29936
2
Deferiprone Approved Phase 2 30652-11-0 2972
3 Iron Chelating Agents Phase 2
4 Pharmaceutical Solutions Phase 2
5 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) Recruiting NCT00907283 Phase 2 Deferiprone
2 Imaging Neuromelanin and Iron in Dystonia/Parkinsonism Unknown status NCT03572114
3 Testing of NBIA Genes: Analysis of Genetic Heterogeneity and Validation of Mitochondrial Markers for Assessing Causality of Sequence Variants. Completed NCT05615571
4 TIRCON International NBIA (Neurodegeneration Associated With Brain Iron Accumulation) Patient Registry and Natural History Study Recruiting NCT05522374
5 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 28 PANK4

Anatomical Context for Neurodegeneration with Brain Iron Accumulation

Organs/tissues related to Neurodegeneration with Brain Iron Accumulation:

MalaCards : Brain, Eye, Globus Pallidus, Subthalamic Nucleus, Thalamus, Skin, Heart

Publications for Neurodegeneration with Brain Iron Accumulation

Articles related to Neurodegeneration with Brain Iron Accumulation:

(show top 50) (show all 518)
# Title Authors PMID Year
1
Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye. 62 24 5
28489334 2017
2
Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation. 62 24 5
24360804 2014
3
Autosomal dominant mitochondrial membrane protein-associated neurodegeneration (MPAN). 24 5
31087512 2019
4
FAHN/SPG35: a narrow phenotypic spectrum across disease classifications. 62 5
31135052 2019
5
Clinical and genetic spectrum of an orphan disease MPAN: a series with new variants and a novel phenotype. 62 5
31804703 2019
6
New genetic causes for complex hereditary spastic paraplegia. 62 5
28716262 2017
7
Modeling human Coenzyme A synthase mutation in yeast reveals altered mitochondrial function, lipid content and iron metabolism. 62 5
28357284 2015
8
Cerebral Iron Accumulation Is Not a Major Feature of FA2H/SPG35. 62 5
30713878 2015
9
PLA2G6-associated neurodegeneration (PLAN): further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease. 62 5
24745848 2014
10
C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis. 62 5
22584950 2012
11
Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations. 62 5
20619503 2012
12
Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation. 62 5
21981780 2011
13
Catalytic function of PLA2G6 is impaired by mutations associated with infantile neuroaxonal dystrophy but not dystonia-parkinsonism. 62 5
20886109 2010
14
R632W mutation in PLA2G6 segregates with dystonia-parkinsonism in a consanguineous Iranian family. 62 5
19087156 2009
15
Neurodegeneration associated with genetic defects in phospholipase A(2). 62 5
18799783 2008
16
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron. 62 5
16783378 2006
17
Clinical and molecular characterization of hereditary spastic paraplegia in a spanish Southern region. 5
33059505 2022
18
Identification of novel mutations by targeted NGS in Moroccan families clinically diagnosed with a neuromuscular disorder. 5
34852264 2022
19
Genetic etiology of a Chinese ataxia cohort: Expanding the mutational spectrum of hereditary ataxias. 5
34284285 2021
20
Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing. 5
33644862 2021
21
Defective Lysosomal Lipid Catabolism as a Common Pathogenic Mechanism for Dementia. 5
33550528 2021
22
New Insights of Phospholipase A2 Associated Neurodegeneration Phenotype Based on the Long-Term Follow-Up of a Large Hungarian Family. 5
34168672 2021
23
Identification of Germline Mutations in Melanoma Patients with Early Onset, Double Primary Tumors, or Family Cancer History by NGS Analysis of 217 Genes. 5
33050356 2020
24
The natural history of infantile neuroaxonal dystrophy. 5
32357911 2020
25
Genotype-phenotype correlations of adult-onset PLA2G6-associated Neurodegeneration: case series and literature review. 5
32183746 2020
26
Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility. 5
33083013 2020
27
Brain iron and metabolic abnormalities in C19orf12 mutation carriers: A 7.0 tesla MRI study in mitochondrial membrane protein-associated neurodegeneration. 5
31518459 2020
28
PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression. 5
30340910 2019
29
Atypical Childhood-onset Neuroaxonal Dystrophy in an Indian Girl. 5
31516627 2019
30
Early-Onset Parkinson's Disease Caused by PLA2G6 Compound Heterozygous Mutation, a Case Report and Literature Review. 5
31496990 2019
31
PLA2G6-Associated Neurodegeneration (PLAN): Review of Clinical Phenotypes and Genotypes. 5
30619057 2018
32
Kufor-Rakeb Syndrome/PARK9: One Novel and One Possible Recurring Ashkenazi ATP13A2 Mutation. 5
29966207 2018
33
PARK14 PLA2G6 mutants are defective in preventing rotenone-induced mitochondrial dysfunction, ROS generation and activation of mitochondrial apoptotic pathway. 5
29108286 2017
34
Lessons from a pair of siblings with BPAN. 62 24
26577041 2016
35
Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families. 5
27316240 2016
36
Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration. 5
26668131 2016
37
Genetic Analysis of PLA2G6 in 22 Indian Families with Infantile Neuroaxonal Dystrophy, Atypical Late-Onset Neuroaxonal Dystrophy and Dystonia Parkinsonism Complex. 5
27196560 2016
38
PLA2G6 Mutations Related to Distinct Phenotypes: A New Case with Early-onset Parkinsonism. 5
27127721 2016
39
Novel PLA2G6 mutations associated with an exonic deletion due to non-allelic homologous recombination in a patient with infantile neuroaxonal dystrophy. 5
27081553 2015
40
Infantile and childhood onset PLA2G6-associated neurodegeneration in a large North African cohort. 5
25164370 2015
41
New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN. 62 24
23269600 2013
42
Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. 62 24
23176820 2012
43
Neuroimaging features of neurodegeneration with brain iron accumulation. 62 24
21920862 2012
44
Mutant Atp13a2 proteins involved in parkinsonism are degraded by ER-associated degradation and sensitize cells to ER-stress induced cell death. 5
21665991 2011
45
Recessively inherited parkinsonism: effect of ATP13A2 mutations on the clinical and neuroimaging phenotype. 62 24
21060012 2010
46
Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA). 62 24
20853438 2010
47
ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation. 62 24
20310007 2010
48
Infantile neuroaxonal dystrophy: what's most important for the diagnosis? 5
18359254 2008
49
Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase. 5
16964263 2006
50
Consensus clinical management guideline for pantothenate kinase-associated neurodegeneration (PKAN). 24
28034613 2017

Variations for Neurodegeneration with Brain Iron Accumulation

ClinVar genetic disease variations for Neurodegeneration with Brain Iron Accumulation:

5 (show all 22)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CRAT NM_000755.5(CRAT):c.962G>A (p.Arg321His) SNV Pathogenic
503495 rs138665095 GRCh37: 9:131862812-131862812
GRCh38: 9:129100533-129100533
2 REPS1 NM_001286611.2(REPS1):c.338C>A (p.Ala113Glu) SNV Pathogenic
503504 rs201191394 GRCh37: 6:139266774-139266774
GRCh38: 6:138945637-138945637
3 PLA2G6 NM_003560.4(PLA2G6):c.1798C>T (p.Arg600Trp) SNV Pathogenic
1197568 GRCh37: 22:38512163-38512163
GRCh38: 22:38116156-38116156
4 C19orf12 NM_031448.6(C19orf12):c.161G>A (p.Gly54Glu) SNV Pathogenic
617481 rs752450983 GRCh37: 19:30193884-30193884
GRCh38: 19:29702977-29702977
5 PLA2G6 NM_003560.4(PLA2G6):c.2221C>T (p.Arg741Trp) SNV Pathogenic
265448 rs530348521 GRCh37: 22:38508566-38508566
GRCh38: 22:38112559-38112559
6 ATP13A2 NM_022089.4(ATP13A2):c.3057del (p.Tyr1020fs) DEL Pathogenic
465253 rs765632065 GRCh37: 1:17313567-17313567
GRCh38: 1:16987072-16987072
7 COASY NM_025233.7(COASY):c.1495C>T (p.Arg499Cys) SNV Pathogenic
100662 rs140709867 GRCh37: 17:40717686-40717686
GRCh38: 17:42565668-42565668
8 PLA2G6 NM_003560.4(PLA2G6):c.1894C>T (p.Arg632Trp) SNV Pathogenic
6199 rs121908683 GRCh37: 22:38511674-38511674
GRCh38: 22:38115667-38115667
9 PLA2G6 NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter) SNV Pathogenic
6195 rs121908680 GRCh37: 22:38508219-38508219
GRCh38: 22:38112212-38112212
10 COASY NM_025233.7(COASY):c.1068_1069del (p.Cys357fs) DEL Likely Pathogenic
1722462 GRCh37: 17:40716747-40716748
GRCh38: 17:42564729-42564730
11 ATP13A2 NM_022089.4(ATP13A2):c.477+2T>G SNV Likely Pathogenic
546591 rs758014228 GRCh37: 1:17331185-17331185
GRCh38: 1:17004690-17004690
12 C19orf12 NM_001031726.3(C19orf12):c.197_199del DEL Likely Pathogenic
88866 rs398122409 GRCh37: 19:30193879-30193881
GRCh38: 19:29702972-29702974
13 COASY NM_025233.7(COASY):c.1403_1404dup (p.Ile469Ter) MICROSAT Likely Pathogenic
421057 rs560987504 GRCh37: 17:40717494-40717495
GRCh38: 17:42565476-42565477
14 FA2H NM_024306.5(FA2H):c.806G>A (p.Arg269His) SNV Likely Pathogenic
948467 rs1429546236 GRCh37: 16:74750478-74750478
GRCh38: 16:74716580-74716580
15 overlap with 2 genes NC_000003.11:g.(?_148890285)_(148939833_?)del DEL Likely Pathogenic
1704638 GRCh37: 3:148890285-148939833
GRCh38:
16 PLA2G6 NM_003560.4(PLA2G6):c.1294del (p.His432fs) DEL Likely Pathogenic
1705054 GRCh37: 22:38524330-38524330
GRCh38: 22:38128323-38128323
17 COASY NM_025233.7(COASY):c.492del (p.Glu164fs) DEL Likely Pathogenic
1698628 GRCh37: 17:40715132-40715132
GRCh38: 17:42563114-42563114
18 PLA2G6 NM_003560.4(PLA2G6):c.1911del (p.Ser637fs) DEL Likely Pathogenic
183302 rs730882214 GRCh37: 22:38511657-38511657
GRCh38: 22:38115650-38115650
19 FA2H NM_024306.5(FA2H):c.131C>A (p.Pro44Gln) SNV Likely Pathogenic
458305 rs915291720 GRCh37: 16:74808523-74808523
GRCh38: 16:74774625-74774625
20 PLA2G6 NM_003560.4(PLA2G6):c.2287C>T (p.Gln763Ter) SNV Likely Pathogenic
1177288 GRCh37: 22:38508302-38508302
GRCh38: 22:38112295-38112295
21 WDR45 NM_001029896.2(WDR45):c.827+1G>A SNV Not Provided
265508 rs1557083958 GRCh37: X:48933022-48933022
GRCh38: X:49075363-49075363
22 PLA2G6 NM_003560.4(PLA2G6):c.2070_2072del (p.Val691del) DEL Not Provided
6198 rs587784343 GRCh37: 22:38509624-38509626
GRCh38: 22:38113617-38113619

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

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 extrinsic component of membrane GO:0019898 9.85 WIPI2 WIPI1 WDR45 RB1CC1 ATG2A
2 autophagosome membrane GO:0000421 9.73 WIPI1 RB1CC1 ATP13A2
3 phagophore assembly site GO:0000407 9.65 WIPI2 WIPI1 WDR45 RB1CC1 ATG2A
4 phagophore assembly site membrane GO:0034045 9.32 WIPI2 WIPI1 WDR45 RB1CC1 ATG2A

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cellular response to starvation GO:0009267 9.99 WIPI2 WIPI1 WDR45
2 cellular iron ion homeostasis GO:0006879 9.97 FTL CP ATP13A2
3 positive regulation of autophagosome assembly GO:2000786 9.91 ATG2A WDR45 WIPI1
4 protein localization to phagophore assembly site GO:0034497 9.88 WIPI2 WIPI1 WDR45
5 iron ion transport GO:0006826 9.85 SLC39A14 FTL CP
6 protein lipidation GO:0006497 9.85 WIPI2 WIPI1 WDR45
7 autophagosome assembly GO:0000045 9.85 WIPI2 WIPI1 WDR45 RB1CC1 ATG2A
8 coenzyme A biosynthetic process GO:0015937 9.8 COASY PANK2 PANK4
9 piecemeal microautophagy of the nucleus GO:0034727 9.78 RB1CC1 ATG2A
10 autophagy of nucleus GO:0044804 9.73 WIPI2 WIPI1 WDR45
11 autophagy of mitochondrion GO:0000422 9.65 ATG2A RB1CC1 WDR45 WIPI1 WIPI2
12 autophagy GO:0006914 9.4 WIPI2 WIPI1 WDR45 RB1CC1 C19orf12 ATP13A2

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

# Name GO ID Score Top Affiliating Genes
1 lipid binding GO:0008289 9.73 WIPI2 WIPI1 WDR45 SNCA ATP13A2
2 phosphatidylinositol-3-phosphate binding GO:0032266 9.56 WIPI2 WIPI1 WDR45 ATG2A
3 pantothenate kinase activity GO:0004594 9.46 PANK4 PANK2
4 phosphatidylinositol-3,5-bisphosphate binding GO:0080025 9.23 WIPI2 WIPI1 WDR45 ATP13A2

Sources for Neurodegeneration with Brain Iron Accumulation

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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