NBIA2B
MCID: NRD009
MIFTS: 43

Neurodegeneration with Brain Iron Accumulation 2b (NBIA2B)

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

Aliases & Classifications for Neurodegeneration with Brain Iron Accumulation 2b

MalaCards integrated aliases for Neurodegeneration with Brain Iron Accumulation 2b:

Name: Neurodegeneration with Brain Iron Accumulation 2b 58 12 76 30 13 6 15
Nbia2b 58 12 76
Neurodegeneration with Brain Iron Accumulation, Pla2g6-Related 58 12
Neuroaxonal Dystrophy, Atypical 58 12
Karak Syndrome 76 74
Neurodegeneration with Brain Iron Accumulation Pla2g6-Related 76
Neurodegeneration, with Brain Iron Accumulation, Type 2b 41
Neurodegeneration with Brain Iron Accumulation 2 74
Atypical Neuroaxonal Dystrophy 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
progressive disorder
childhood onset (average 4 to 6 years)
allelic disorder to infantile neuroaxonal dystrophy


HPO:

33
neurodegeneration with brain iron accumulation 2b:
Onset and clinical course phenotypic variability childhood onset progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Neurodegeneration with Brain Iron Accumulation 2b

UniProtKB/Swiss-Prot : 76 Neurodegeneration with brain iron accumulation 2B: A neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. It is characterized by progressive extrapyramidal dysfunction leading to rigidity, dystonia, dysarthria and sensorimotor impairment.

MalaCards based summary : Neurodegeneration with Brain Iron Accumulation 2b, also known as nbia2b, is related to neurodegeneration with brain iron accumulation 2a and neuroaxonal dystrophy, and has symptoms including seizures, gait ataxia and dysdiadochokinesis. An important gene associated with Neurodegeneration with Brain Iron Accumulation 2b is PLA2G6 (Phospholipase A2 Group VI), and among its related pathways/superpathways are Glycerophospholipid biosynthesis and Linoleic acid metabolism. The drugs Desipramine and Antidepressive Agents have been mentioned in the context of this disorder. Affiliated tissues include brain and eye, and related phenotypes are nystagmus and emotional lability

Disease Ontology : 12 A neurodegeneration with brain iron accumulation that has material basis in autosomal recessive inheritance of mutation in the PLA2G6 gene on chromosome 22q13.1.

Description from OMIM: 610217

Related Diseases for Neurodegeneration with Brain Iron Accumulation 2b

Graphical network of the top 20 diseases related to Neurodegeneration with Brain Iron Accumulation 2b:



Diseases related to Neurodegeneration with Brain Iron Accumulation 2b

Symptoms & Phenotypes for Neurodegeneration with Brain Iron Accumulation 2b

Human phenotypes related to Neurodegeneration with Brain Iron Accumulation 2b:

33 (show all 29)
# Description HPO Frequency HPO Source Accession
1 nystagmus 33 HP:0000639
2 emotional lability 33 HP:0000712
3 seizures 33 HP:0001250
4 spasticity 33 HP:0001257
5 dysarthria 33 HP:0001260
6 dysphagia 33 HP:0002015
7 chorea 33 HP:0002072
8 delayed speech and language development 33 HP:0000750
9 optic atrophy 33 HP:0000648
10 hypertonia 33 HP:0001276
11 feeding difficulties 33 HP:0011968
12 gait ataxia 33 HP:0002066
13 babinski sign 33 HP:0003487
14 dysmetria 33 HP:0001310
15 intention tremor 33 HP:0002080
16 dystonia 33 HP:0001332
17 neurodegeneration 33 HP:0002180
18 mental deterioration 33 HP:0001268
19 dysdiadochokinesis 33 HP:0002075
20 cerebellar atrophy 33 HP:0001272
21 bradykinesia 33 HP:0002067
22 hyperactivity 33 HP:0000752
23 impulsivity 33 HP:0100710
24 cerebral atrophy 33 HP:0002059
25 neurofibrillary tangles 33 HP:0002185
26 lewy bodies 33 HP:0100315
27 impaired smooth pursuit 33 HP:0007772
28 talipes calcaneovalgus 33 HP:0001884
29 short attention span 33 HP:0000736

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
impaired smooth pursuit
abnormal saccades
optic atrophy (67%)

Neurologic Central Nervous System:
seizures
spasticity
dysarthria
hypertonia
gait ataxia
more
Skeletal Feet:
pes calcaneovarus

Neurologic Behavioral Psychiatric Manifestations:
emotional lability
hyperactivity
impulsivity
autistic features
poor attention span
more
Abdomen Gastrointestinal:
dysphagia
feeding difficulties

Clinical features from OMIM:

610217

UMLS symptoms related to Neurodegeneration with Brain Iron Accumulation 2b:


seizures, gait ataxia, dysdiadochokinesis, action tremor, bradykinesia, cerebellar ataxia, muscle spasticity

Drugs & Therapeutics for Neurodegeneration with Brain Iron Accumulation 2b

Drugs for Neurodegeneration with Brain Iron Accumulation 2b (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Desipramine Approved, Investigational Phase 4 50-47-5 2995
2 Antidepressive Agents Phase 4
3 Neurotransmitter Uptake Inhibitors Phase 4
4 Psychotropic Drugs Phase 4
5 Neurotransmitter Agents Phase 4
6 Adrenergic Agents Phase 4
7 Antidepressive Agents, Tricyclic Phase 4
8 Linoleate Phase 2, Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Desipramine in Infantile Neuroaxonal Dystrophy (INAD). Enrolling by invitation NCT03726996 Phase 4 Desipramine
2 A Study to Assess Efficacy and Safety of RT001 in Subjects With Infantile Neuroaxonal Dystrophy Enrolling by invitation NCT03570931 Phase 2, Phase 3 RT001

Search NIH Clinical Center for Neurodegeneration with Brain Iron Accumulation 2b

Genetic Tests for Neurodegeneration with Brain Iron Accumulation 2b

Genetic tests related to Neurodegeneration with Brain Iron Accumulation 2b:

# Genetic test Affiliating Genes
1 Neurodegeneration with Brain Iron Accumulation 2b 30 PLA2G6

Anatomical Context for Neurodegeneration with Brain Iron Accumulation 2b

MalaCards organs/tissues related to Neurodegeneration with Brain Iron Accumulation 2b:

42
Brain, Eye

Publications for Neurodegeneration with Brain Iron Accumulation 2b

Articles related to Neurodegeneration with Brain Iron Accumulation 2b:

# Title Authors Year
1
Genetic Analysis of PLA2G6 in 22 Indian Families with Infantile Neuroaxonal Dystrophy, Atypical Late-Onset Neuroaxonal Dystrophy and Dystonia Parkinsonism Complex. ( 27196560 )
2016

Variations for Neurodegeneration with Brain Iron Accumulation 2b

UniProtKB/Swiss-Prot genetic disease variations for Neurodegeneration with Brain Iron Accumulation 2b:

76
# Symbol AA change Variation ID SNP ID
1 PLA2G6 p.Lys545Thr VAR_029372 rs121908681
2 PLA2G6 p.Arg632Trp VAR_029373 rs121908683

ClinVar genetic disease variations for Neurodegeneration with Brain Iron Accumulation 2b:

6 (show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 PLA2G6 NM_003560.3(PLA2G6): c.1799G> A (p.Arg600Gln) single nucleotide variant Pathogenic/Likely pathogenic rs149712244 GRCh37 Chromosome 22, 38512162: 38512162
2 PLA2G6 NM_003560.3(PLA2G6): c.1799G> A (p.Arg600Gln) single nucleotide variant Pathogenic/Likely pathogenic rs149712244 GRCh38 Chromosome 22, 38116155: 38116155
3 PLA2G6 NM_003560.3(PLA2G6): c.1349-2A> G single nucleotide variant Pathogenic rs797045888 GRCh37 Chromosome 22, 38522458: 38522458
4 PLA2G6 NM_003560.3(PLA2G6): c.1349-2A> G single nucleotide variant Pathogenic rs797045888 GRCh38 Chromosome 22, 38126451: 38126451
5 PLA2G6 NM_003560.3(PLA2G6): c.945_947dup (p.Ala316_Gly317insAla) duplication Likely pathogenic rs797045889 GRCh38 Chromosome 22, 38132961: 38132963
6 PLA2G6 NM_003560.3(PLA2G6): c.945_947dup (p.Ala316_Gly317insAla) duplication Likely pathogenic rs797045889 GRCh37 Chromosome 22, 38528968: 38528970
7 PLA2G6 NM_003560.3(PLA2G6): c.1634A> C (p.Lys545Thr) single nucleotide variant Pathogenic rs121908681 GRCh37 Chromosome 22, 38516874: 38516874
8 PLA2G6 NM_003560.3(PLA2G6): c.1634A> C (p.Lys545Thr) single nucleotide variant Pathogenic rs121908681 GRCh38 Chromosome 22, 38120867: 38120867
9 PLA2G6 NM_003560.3(PLA2G6): c.2070_2072delTGT (p.Val691del) deletion Pathogenic rs587784343 GRCh37 Chromosome 22, 38509624: 38509626
10 PLA2G6 NM_003560.3(PLA2G6): c.2070_2072delTGT (p.Val691del) deletion Pathogenic rs587784343 GRCh38 Chromosome 22, 38113617: 38113619
11 PLA2G6 NM_003560.3(PLA2G6): c.2370_2371delTG (p.Tyr790Terfs) deletion Pathogenic rs587784353 GRCh38 Chromosome 22, 38112211: 38112212
12 PLA2G6 NM_003560.3(PLA2G6): c.2370_2371delTG (p.Tyr790Terfs) deletion Pathogenic rs587784353 GRCh37 Chromosome 22, 38508218: 38508219
13 PLA2G6 NM_003560.3(PLA2G6): c.238G> A (p.Ala80Thr) single nucleotide variant Uncertain significance rs121908685 GRCh37 Chromosome 22, 38541632: 38541632
14 PLA2G6 NM_003560.3(PLA2G6): c.238G> A (p.Ala80Thr) single nucleotide variant Uncertain significance rs121908685 GRCh38 Chromosome 22, 38145625: 38145625
15 PLA2G6 NM_003560.3(PLA2G6): c.1976A> G (p.Asn659Ser) single nucleotide variant Likely pathogenic rs1555978219 GRCh38 Chromosome 22, 38115585: 38115585
16 PLA2G6 NM_003560.3(PLA2G6): c.1976A> G (p.Asn659Ser) single nucleotide variant Likely pathogenic rs1555978219 GRCh37 Chromosome 22, 38511592: 38511592
17 PLA2G6 NM_003560.3(PLA2G6): c.1506G> C (p.Lys502Asn) single nucleotide variant Likely pathogenic rs1555988382 GRCh37 Chromosome 22, 38519187: 38519187
18 PLA2G6 NM_003560.3(PLA2G6): c.1506G> C (p.Lys502Asn) single nucleotide variant Likely pathogenic rs1555988382 GRCh38 Chromosome 22, 38123180: 38123180
19 PLA2G6 NM_003560.3(PLA2G6): c.2070-2072del deletion Pathogenic GRCh38 Chromosome 22, 38115691: 38115691
20 PLA2G6 NM_003560.3(PLA2G6): c.2070-2072del deletion Pathogenic GRCh37 Chromosome 22, 38511698: 38511698

Expression for Neurodegeneration with Brain Iron Accumulation 2b

Search GEO for disease gene expression data for Neurodegeneration with Brain Iron Accumulation 2b.

Pathways for Neurodegeneration with Brain Iron Accumulation 2b

GO Terms for Neurodegeneration with Brain Iron Accumulation 2b

Cellular components related to Neurodegeneration with Brain Iron Accumulation 2b according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.1 BAIAP2L2 FBXO7 PANK2 PLA2G1B PLA2G6 PNPLA2

Biological processes related to Neurodegeneration with Brain Iron Accumulation 2b according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.5 PLA2G1B PLA2G6 PNPLA2
2 antibacterial humoral response GO:0019731 9.26 PLA2G1B PLA2G6
3 phosphatidylcholine acyl-chain remodeling GO:0036151 9.16 PLA2G1B PLA2G6
4 phosphatidylethanolamine acyl-chain remodeling GO:0036152 8.96 PLA2G1B PLA2G6
5 lipid catabolic process GO:0016042 8.8 PLA2G1B PLA2G6 PNPLA2

Molecular functions related to Neurodegeneration with Brain Iron Accumulation 2b according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phospholipid binding GO:0005543 9.26 BAIAP2L2 PLA2G1B
2 phospholipase A2 activity GO:0004623 9.16 PLA2G1B PLA2G6
3 phospholipase A2 activity (consuming 1,2-dipalmitoylphosphatidylcholine) GO:0102567 8.96 PLA2G1B PLA2G6
4 phospholipase A2 activity consuming 1,2-dioleoylphosphatidylethanolamine) GO:0102568 8.62 PLA2G1B PLA2G6

Sources for Neurodegeneration with Brain Iron Accumulation 2b

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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