MCID: NRD009
MIFTS: 40

Neurodegeneration with Brain Iron Accumulation 2b

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Eye diseases, Metabolic 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 57 12 75 29 13 6 15
Nbia2b 57 12 75
Neurodegeneration with Brain Iron Accumulation, Pla2g6-Related 57 12
Neuroaxonal Dystrophy, Atypical 57 12
Karak Syndrome 75 73
Neurodegeneration with Brain Iron Accumulation Pla2g6-Related 75
Neurodegeneration, with Brain Iron Accumulation, Type 2b 40
Neurodegeneration with Brain Iron Accumulation 2 73
Atypical Neuroaxonal Dystrophy 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
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 : 75 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 karak syndrome, and has symptoms including cerebellar ataxia, muscle spasticity and seizures. An important gene associated with Neurodegeneration with Brain Iron Accumulation 2b is PLA2G6 (Phospholipase A2 Group VI), and among its related pathways/superpathways are Acyl chain remodelling of PE and Linoleic acid metabolism. 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

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 2b via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 neurodegeneration with brain iron accumulation 2a 29.0 FA2H FBXO7 PANK2 PLA2G1B PLA2G6
2 karak syndrome 12.4
3 juvenile-onset parkinson's disease 10.0 FBXO7 PLA2G6
4 neurodegeneration with brain iron accumulation 4 9.7 PANK2 PLA2G6
5 neurodegeneration with brain iron accumulation 5 9.7 PANK2 PLA2G6
6 neuroaxonal dystrophy 9.6 PANK2 PLA2G6
7 neurodegeneration with brain iron accumulation 6 9.5 PANK2 PLA2G6
8 leukodystrophy, hypomyelinating, 2 9.2 FA2H PANK2
9 neurodegeneration with brain iron accumulation 3 9.2 FA2H PANK2 PLA2G6
10 neurodegeneration with brain iron accumulation 1 9.2 FA2H PANK2 PLA2G6
11 neurodegeneration with brain iron accumulation 9.1 FA2H PANK2 PLA2G6
12 aceruloplasminemia 9.1 FA2H PANK2 PLA2G6
13 parkinson disease 15, autosomal recessive early-onset 9.1 FBXO7 PANK2 PLA2G6
14 kufor-rakeb syndrome 9.1 FBXO7 PANK2 PLA2G6
15 dystonia 9.0 FA2H PANK2 PLA2G6
16 trehalase deficiency 8.5 FA2H PANK2 PLA2G6

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 28)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 emotional lability 32 HP:0000712
3 seizures 32 HP:0001250
4 spasticity 32 HP:0001257
5 dysarthria 32 HP:0001260
6 dysphagia 32 HP:0002015
7 chorea 32 HP:0002072
8 delayed speech and language development 32 HP:0000750
9 optic atrophy 32 HP:0000648
10 hypertonia 32 HP:0001276
11 feeding difficulties 32 HP:0011968
12 gait ataxia 32 HP:0002066
13 babinski sign 32 HP:0003487
14 dysmetria 32 HP:0001310
15 intention tremor 32 HP:0002080
16 dystonia 32 HP:0001332
17 neurodegeneration 32 HP:0002180
18 mental deterioration 32 HP:0001268
19 dysdiadochokinesis 32 HP:0002075
20 cerebellar atrophy 32 HP:0001272
21 bradykinesia 32 HP:0002067
22 hyperactivity 32 HP:0000752
23 impulsivity 32 HP:0100710
24 cerebral atrophy 32 HP:0002059
25 neurofibrillary tangles 32 HP:0002185
26 impaired smooth pursuit 32 HP:0007772
27 talipes calcaneovalgus 32 HP:0001884
28 short attention span 32 HP:0000736

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


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

MGI Mouse Phenotypes related to Neurodegeneration with Brain Iron Accumulation 2b:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 8.92 BAIAP2L2 FA2H PANK2 PLA2G6

Drugs & Therapeutics for Neurodegeneration with Brain Iron Accumulation 2b

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Study to Assess Efficacy and Safety of RT001 in Subjects With Infantile Neuroaxonal Dystrophy Not yet recruiting 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 29 PLA2G6

Anatomical Context for Neurodegeneration with Brain Iron Accumulation 2b

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

41
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:

75
# 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 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 PLA2G6 NM_003560.3(PLA2G6): c.1634A> C (p.Lys545Thr) single nucleotide variant Pathogenic rs121908681 GRCh37 Chromosome 22, 38516874: 38516874
2 PLA2G6 NM_003560.3(PLA2G6): c.1634A> C (p.Lys545Thr) single nucleotide variant Pathogenic rs121908681 GRCh38 Chromosome 22, 38120867: 38120867
3 PLA2G6 NM_003560.3(PLA2G6): c.2370_2371delTG (p.Tyr790Terfs) deletion Pathogenic rs587784353 GRCh38 Chromosome 22, 38112211: 38112212
4 PLA2G6 NM_003560.3(PLA2G6): c.2370_2371delTG (p.Tyr790Terfs) deletion Pathogenic rs587784353 GRCh37 Chromosome 22, 38508218: 38508219
5 PLA2G6 NM_003560.3(PLA2G6): c.1799G> A (p.Arg600Gln) single nucleotide variant Pathogenic/Likely pathogenic rs149712244 GRCh37 Chromosome 22, 38512162: 38512162
6 PLA2G6 NM_003560.3(PLA2G6): c.1799G> A (p.Arg600Gln) single nucleotide variant Pathogenic/Likely pathogenic rs149712244 GRCh38 Chromosome 22, 38116155: 38116155
7 PLA2G6 NM_003560.3(PLA2G6): c.1349-2A> G single nucleotide variant Pathogenic rs797045888 GRCh37 Chromosome 22, 38522458: 38522458
8 PLA2G6 NM_003560.3(PLA2G6): c.1349-2A> G single nucleotide variant Pathogenic rs797045888 GRCh38 Chromosome 22, 38126451: 38126451
9 PLA2G6 NM_003560.3(PLA2G6): c.945_947dupCGC (p.Ala316_Gly317insAla) duplication Likely pathogenic rs797045889 GRCh38 Chromosome 22, 38132961: 38132963
10 PLA2G6 NM_003560.3(PLA2G6): c.945_947dupCGC (p.Ala316_Gly317insAla) duplication Likely pathogenic rs797045889 GRCh37 Chromosome 22, 38528968: 38528970
11 PLA2G6 NM_003560.3(PLA2G6): c.1976A> G (p.Asn659Ser) single nucleotide variant Likely pathogenic GRCh38 Chromosome 22, 38115585: 38115585
12 PLA2G6 NM_003560.3(PLA2G6): c.1976A> G (p.Asn659Ser) single nucleotide variant Likely pathogenic GRCh37 Chromosome 22, 38511592: 38511592
13 PLA2G6 NM_003560.3(PLA2G6): c.1506G> C (p.Lys502Asn) single nucleotide variant Likely pathogenic GRCh37 Chromosome 22, 38519187: 38519187
14 PLA2G6 NM_003560.3(PLA2G6): c.1506G> C (p.Lys502Asn) single nucleotide variant Likely pathogenic GRCh38 Chromosome 22, 38123180: 38123180

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.16 PLA2G1B PLA2G6
2
Show member pathways
10.69 PLA2G1B PLA2G6

GO Terms for Neurodegeneration with Brain Iron Accumulation 2b

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 FA2H PLA2G1B PLA2G6
2 lipid catabolic process GO:0016042 9.37 PLA2G1B PLA2G6
3 fatty acid biosynthetic process GO:0006633 9.26 FA2H PLA2G1B
4 antibacterial humoral response GO:0019731 9.16 PLA2G1B PLA2G6
5 phosphatidylcholine acyl-chain remodeling GO:0036151 8.96 PLA2G1B PLA2G6
6 phosphatidylethanolamine acyl-chain remodeling GO:0036152 8.62 PLA2G1B PLA2G6

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

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

Sources for Neurodegeneration with Brain Iron Accumulation 2b

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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