NBIA2A
MCID: NRD033
MIFTS: 55

Neurodegeneration with Brain Iron Accumulation 2a (NBIA2A)

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

Aliases & Classifications for Neurodegeneration with Brain Iron Accumulation 2a

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

Name: Neurodegeneration with Brain Iron Accumulation 2a 57 12 75 15
Infantile Neuroaxonal Dystrophy 53 25 54 75 29 6 73
Seitelberger Disease 57 12 53 25 54 75
Infantile Neuroaxonal Dystrophy 1 57 12 75 13
Plan 57 24 53 75
Inad 57 53 25 75
Pla2g6-Associated Neurodegeneration 24 29 6
Neuroaxonal Dystrophy, Infantile 57 53 55
Nbia2a 57 12 75
Inad1 12 53 75
Neurodegeneration with Brain Iron Accumulation, Pla2g6-Related 53 25
Neurodegeneration, Pla2g6-Associated 57 12
Infantile Neuroaxonal Dystrophy/atypical Neuroaxonal Dystrophy 53
Neurodegeneration, with Brain Iron Accumulation, Type 2a 40
Neurodegeneration with Brain Iron Accumulation 2b 53
Neurodegeneration with Brain Iron Accumulation 2 73
Neuroaxonal Dystrophy, Infantile; Inad; Inad1 57
Phospholipase A2-Associated Neurodegeneration 53
Neurodegeneration, Pla2g6-Associated; Plan 57
Neurodegeneration Pla2g6-Associated 75
Dystrophy, Neuroaxonal, Infantile 40
Neuroaxonal Dystrophy, Atypical 53
Pla2g6-Related Disorders 24
Karak Syndrome, Included 53
Neuroaxonal Dystrophies 73
Seitelberger's Disease 25
Nbia, Pla2g6-Related 25
Nbia2b 53
Nbia2 24

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset usually in infancy or up to 2 years of age although later onset has been reported ('late-infantile')
death usually by age 10 years
allelic disorder to neurodegeneration with brain iron accumulation 2b (nbia2b, )
phenotypic overlap with pkan neuroaxonal dystrophy (nbia1, )


HPO:

32
neurodegeneration with brain iron accumulation 2a:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Neurodegeneration with Brain Iron Accumulation 2a

NINDS : 54 Infantile neuroaxonal dystrophy (INAD) is a rare inherited neurological disorder. It affects axons, the part of a nerve cell that carries messages from the brain to other parts of the body, and causes progressive loss of vision, muscular control, and mental skills. While the basic genetic and metabolic causes are unknown, INAD is the result of an abnormal build-up of toxic substances in nerves that communicate with muscles, skin, and the conjunctive tissue around the eyes.  Symptoms usually begin within the first 2 years of life, with the loss of head control and the ability to sit, crawl, or walk, accompanied by deterioration in vision and speech.  Some children may have seizures.  Distinctive facial deformities may be present at birth, including a prominent forehead, crossed eyes, an unusually small nose or jaw, and large, low-set ears.  INAD is an autosomal recessive disorder, which means that both parents must be carriers of the defective gene that causes INAD to pass it on to their child. Electrophysiology (nerve conduction velocities) may be helpful for diagnosis, although diagnosis is usually confirmed by tissue biopsy of skin, rectum, nerve or conjunctive tissue to confirm the presence of characteristic swellings (spheroid bodies) in the nerve axons. 

MalaCards based summary : Neurodegeneration with Brain Iron Accumulation 2a, also known as infantile neuroaxonal dystrophy, is related to neurodegeneration with brain iron accumulation 2b and neuroaxonal dystrophy, and has symptoms including seizures, ataxia and abnormal pyramidal signs. An important gene associated with Neurodegeneration with Brain Iron Accumulation 2a is PLA2G6 (Phospholipase A2 Group VI), and among its related pathways/superpathways is Metabolism. The drugs Desipramine and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include brain, skin and eye, and related phenotypes are frontal bossing and nystagmus

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 and is characterized by onset in the first 2 years of life.

Genetics Home Reference : 25 Infantile neuroaxonal dystrophy is a disorder that primarily affects the nervous system. Individuals with infantile neuroaxonal dystrophy typically do not have any symptoms at birth, but between the ages of about 6 and 18 months they begin to experience delays in acquiring new motor and intellectual skills, such as crawling or beginning to speak. Eventually they lose previously acquired skills (developmental regression). In some cases, signs and symptoms of infantile neuroaxonal dystrophy first appear later in childhood or during the teenage years and progress more slowly.

NIH Rare Diseases : 53 Infantile neuroaxonal dystrophy is a type of lipid storage disorder that mostly affects the nervous system. It has two forms, a classic form and an atypical form. The classic form is usually diagnosed in infancy or early childhood and leads to a progressive loss of vision and developmental milestones. The atypical form usually begins in early childhood, but can start as late as the teens. Infantile neuroaxonal dystrophy is caused by changes (pathogenic variants) in the PLA2G6 gene and is inherited in an autosomal recessive pattern.

OMIM : 57 Neurodegeneration with brain iron accumulation-2A is an autosomal recessive neurodegenerative disease characterized by onset in the first 2 years of life; it is also referred to as infantile neuroaxonal dystrophy (INAD). Pathologic findings include axonal swelling and spheroid bodies in the central nervous system (review by Gregory et al., 2009). (256600)

UniProtKB/Swiss-Prot : 75 Neurodegeneration with brain iron accumulation 2A: A neurodegenerative disease characterized by pathologic axonal swelling and spheroid bodies in the central nervous system. Onset is within the first 2 years of life with death by age 10 years.

GeneReviews: NBK1675

Related Diseases for Neurodegeneration with Brain Iron Accumulation 2a

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

(show top 50) (show all 918)
# Related Disease Score Top Affiliating Genes
1 neurodegeneration with brain iron accumulation 2b 34.1 FA2H PANK2 PLA2G6
2 neuroaxonal dystrophy 30.3 FA2H NAGA PANK2 PLA2G6
3 hereditary spastic paraplegia 30.0 FA2H PLA2G6
4 dystonia 29.0 FA2H PANK2 PLA2G6
5 neurodegeneration with brain iron accumulation 28.6 FA2H PANK2 PLA2G6
6 neurodegeneration with brain iron accumulation 1 28.6 FA2H PANK2 PLA2G6
7 osteopetrosis and infantile neuroaxonal dystrophy 12.3
8 lupus erythematosus 11.5
9 breast reconstruction 11.4
10 chronic fatigue syndrome 11.3
11 mitochondrial membrane protein-associated neurodegeneration 11.3
12 apraxia 11.2
13 diabetes mellitus 11.2
14 developmental coordination disorder 11.2
15 developmental dyspraxia 11.2
16 hypoglycemia 11.2
17 major depressive disorder 11.2
18 kidney disease 11.2
19 beta-thalassemia 11.2
20 obsessive-compulsive personality disorder 11.2
21 endogenous depression 11.2
22 dystonia 11, myoclonic 10.9
23 pancreas, annular 10.9
24 citrullinemia, classic 10.9
25 hyperoxaluria, primary, type i 10.9
26 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities 10.9
27 smith-lemli-opitz syndrome 10.9
28 aplastic anemia 10.9
29 pitt-hopkins syndrome 10.9
30 fetal alcohol spectrum disorder 10.9
31 rhizomelic chondrodysplasia punctata 10.9
32 epidermolysis bullosa simplex 10.9
33 foxp2-related speech and language disorders 10.9
34 tango2-related metabolic encephalopathy and arrhythmias 10.9
35 childhood apraxia of speech 10.9
36 cluttering 10.9
37 salivary gland cancer, adult 10.9
38 cerebral atrophy 10.9
39 paraplegia 10.3
40 giant axonal neuropathy 1, autosomal recessive 10.2
41 axonal neuropathy 10.2
42 giant axonal neuropathy 10.2
43 schindler disease 10.2
44 prostate cancer 10.2
45 lung cancer 10.2
46 osteopetrosis 10.1
47 neuronal ceroid lipofuscinosis 10.1
48 cerebellar degeneration 10.1
49 diencephalic syndrome 10.1
50 spastic paraparesis 10.1

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



Diseases related to Neurodegeneration with Brain Iron Accumulation 2a

Symptoms & Phenotypes for Neurodegeneration with Brain Iron Accumulation 2a

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
ataxia
spastic tetraplegia
cerebellar atrophy
cerebral atrophy
more
Laboratory Abnormalities:
characteristic spheroids can be found in peripheral tissue, such as skin and conjunctiva

Neurologic Peripheral Nervous System:
chronic denervation seen on emg
axonal dystrophy
axonal swelling or thickening
axonal 'spheroid' inclusions
decreased nerve conduction velocities (ncv) (30%)


Clinical features from OMIM:

256600

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

32 (show all 34)
# Description HPO Frequency HPO Source Accession
1 frontal bossing 32 HP:0002007
2 nystagmus 32 hallmark (90%) HP:0000639
3 intellectual disability 32 HP:0001249
4 seizures 32 occasional (7.5%) HP:0001250
5 ataxia 32 HP:0001251
6 muscular hypotonia 32 hallmark (90%) HP:0001252
7 hyperreflexia 32 HP:0001347
8 developmental regression 32 hallmark (90%) HP:0002376
9 hearing impairment 32 HP:0000365
10 global developmental delay 32 HP:0001263
11 short nose 32 HP:0003196
12 visual impairment 32 frequent (33%) HP:0000505
13 optic atrophy 32 hallmark (90%) HP:0000648
14 abnormality of visual evoked potentials 32 HP:0000649
15 spastic tetraplegia 32 HP:0002510
16 prominent forehead 32 HP:0011220
17 abnormality of metabolism/homeostasis 32 HP:0001939
18 generalized muscle weakness 32 HP:0003324
19 micrognathia 32 HP:0000347
20 strabismus 32 HP:0000486
21 decreased nerve conduction velocity 32 very rare (1%) HP:0000762
22 cachexia 32 frequent (33%) HP:0004326
23 visual loss 32 HP:0000572
24 neurodegeneration 32 HP:0002180
25 areflexia 32 very rare (1%) HP:0001284
26 cerebellar atrophy 32 HP:0001272
27 generalized hypotonia 32 HP:0001290
28 cerebral atrophy 32 HP:0002059
29 unsteady gait 32 HP:0002317
30 neuronal loss in central nervous system 32 HP:0002529
31 gliosis 32 HP:0002171
32 morphological abnormality of the pyramidal tract 32 HP:0002062
33 abnormal pyramidal sign 32 HP:0007256
34 emg 32 HP:0003444

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


seizures, ataxia, abnormal pyramidal signs, gait ataxia, dysdiadochokinesis, action tremor, bradykinesia, weakness, cerebellar ataxia, muscle spasticity

GenomeRNAi Phenotypes related to Neurodegeneration with Brain Iron Accumulation 2a according to GeneCards Suite gene sharing:

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 9.4 RPS27A
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 9.4 PLA2G6 RPS27A
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-160 9.4 RPS27A
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 9.4 PLA2G6
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.4 RPS27A
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-27 9.4 PLA2G6
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.4 PLA2G6
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.4 RPS27A
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-64 9.4 RPS27A
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-87 9.4 PLA2G6
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 9.4 RPS27A

Drugs & Therapeutics for Neurodegeneration with Brain Iron Accumulation 2a

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

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Desipramine Approved, Investigational Phase 4 50-47-5 2995
2 Neurotransmitter Agents Phase 4
3 Psychotropic Drugs Phase 4
4 Antidepressive Agents Phase 4
5 Neurotransmitter Uptake Inhibitors Phase 4
6 Antidepressive Agents, Tricyclic Phase 4
7 Adrenergic Agents Phase 4
8 Linoleate Phase 2, Phase 3
9
Iron Approved 7439-89-6 23925

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
3 NBIAready: Online Collection of Natural History Patient-reported Outcome Measures Recruiting NCT02587858

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

Genetic Tests for Neurodegeneration with Brain Iron Accumulation 2a

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

# Genetic test Affiliating Genes
1 Infantile Neuroaxonal Dystrophy 29 PLA2G6
2 Pla2g6-Associated Neurodegeneration 29

Anatomical Context for Neurodegeneration with Brain Iron Accumulation 2a

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

41
Brain, Skin, Eye, Cortex, Kidney, Bone, Heart

Publications for Neurodegeneration with Brain Iron Accumulation 2a

Articles related to Neurodegeneration with Brain Iron Accumulation 2a:

(show top 50) (show all 109)
# Title Authors Year
1
R106C TFG variant causes infantile neuroaxonal dystrophy &amp;quot;plus&amp;quot; syndrome. ( 29971521 )
2018
2
Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family. ( 29739362 )
2018
3
Corrigendum to &amp;quot;A new PLA2G6 mutation in a family with infantile neuroaxonal dystrophy&amp;quot; [J. Neurol. Sci. 381C (2017) 209-212]. ( 29254810 )
2018
4
Spastic paraparesis with basal ganglia changes: Infantile neuroaxonal dystrophy. ( 29323006 )
2018
5
Infantile neuroaxonal dystrophy caused by PLA2G6 gene mutation in a Chinese patient: A case report. ( 30112060 )
2018
6
Perioperative considerations in infantile neuroaxonal dystrophy. ( 28177173 )
2017
7
A new PLA2G6 mutation in a family with infantile neuroaxonal dystrophy. ( 28991683 )
2017
8
Infantile neuroaxonal dystrophy and PLA2G6-associated neurodegeneration: An update for the diagnosis. ( 27884548 )
2017
9
Neurons and astrocytes in an infantile neuroaxonal dystrophy (INAD) mouse model show characteristic alterations in glutamate-induced Ca2+ signaling. ( 28279750 )
2017
10
Reply: Glial mitochondropathy in infantile neuroaxonal dystrophy: pathophysiological and therapeutic implications. ( 27497489 )
2016
11
Validation of the finding of hypertrophy of the clava in infantile neuroaxonal dystrophy/PLA2G6 by biometric analysis. ( 27516098 )
2016
12
Genetic Analysis of PLA2G6 in 22 Indian Families with Infantile Neuroaxonal Dystrophy, Atypical Late-Onset Neuroaxonal Dystrophy and Dystonia Parkinsonism Complex. ( 27196560 )
2016
13
Monozygotic twins with infantile neuroaxonal dystrophy: A case report and literature review. ( 27882168 )
2016
14
Mitochondria from a mouse model of the human infantile neuroaxonal dystrophy (INAD) with genetic defects in VIA iPLA2 have disturbed Ca(2+) regulation with reduction in Ca(2+) capacity. ( 27395788 )
2016
15
Glial mitochondropathy in infantile neuroaxonal dystrophy: pathophysiological and therapeutic implications. ( 27497490 )
2016
16
Kept in Mind Infantile Neuroaxonal Dystrophy. ( 29485838 )
2016
17
Novel PLA2G6 mutations associated with an exonic deletion due to non-allelic homologous recombination in a patient with infantile neuroaxonal dystrophy. ( 27081553 )
2015
18
Infantile neuroaxonal dystrophy caused by uniparental disomy. ( 24628589 )
2014
19
Downbeat nystagmus as the presenting symptom of infantile neuroaxonal dystrophy: A case report. ( 24800972 )
2014
20
A Case of Infantile Neuroaxonal Dystrophy of Neonatal Onset. ( 24870368 )
2014
21
Infantile neuroaxonal dystrophy: a rare cause of early childhood ataxia with poor prognosis. ( 23073992 )
2013
22
Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism. ( 23749988 )
2013
23
Severe disturbance in the Ca2+ signaling in astrocytes from mouse models of human infantile neuroaxonal dystrophy with mutated Pla2g6. ( 22442204 )
2012
24
MRI Findings in Patients with Clinical Onset Consistent with Infantile Neuroaxonal Dystrophy (INAD), Literature Review, Clinical and MRI Follow-up. ( 24059609 )
2011
25
Novel splice-site mutations and a large intragenic deletion in PLA2G6 associated with a severe and rapidly progressive form of infantile neuroaxonal dystrophy. ( 20584031 )
2010
26
Expression of PLA2G6 in human fetal development: Implications for infantile neuroaxonal dystrophy. ( 20813170 )
2010
27
Catalytic function of PLA2G6 is impaired by mutations associated with infantile neuroaxonal dystrophy but not dystonia-parkinsonism. ( 20886109 )
2010
28
Clinical study and PLA2G6 mutation screening analysis in Chinese patients with infantile neuroaxonal dystrophy. ( 19138334 )
2009
29
Establishment of an improved mouse model for infantile neuroaxonal dystrophy that shows early disease onset and bears a point mutation in Pla2g6. ( 19893029 )
2009
30
Disrupted membrane homeostasis and accumulation of ubiquitinated proteins in a mouse model of infantile neuroaxonal dystrophy caused by PLA2G6 mutations. ( 18202189 )
2008
31
A case of infantile neuroaxonal dystrophy: connatal Seitelberger disease. ( 18287574 )
2008
32
Infantile neuroaxonal dystrophy: what's most important for the diagnosis? ( 18359254 )
2008
33
Cerebellar atrophy without cerebellar cortex hyperintensity in infantile neuroaxonal dystrophy (INAD) due to PLA2G6 mutation. ( 17254819 )
2007
34
Spontaneous murine neuroaxonal dystrophy: a model of infantile neuroaxonal dystrophy. ( 16542671 )
2006
35
PLA2G6 mutation underlies infantile neuroaxonal dystrophy. ( 17033970 )
2006
36
A new mouse model for infantile neuroaxonal dystrophy, inad mouse, maps to mouse chromosome 1. ( 15859351 )
2005
37
Cerebellar hypoperfusion in infantile neuroaxonal dystrophy. ( 15664778 )
2005
38
Infantile neuroaxonal dystrophy and pantothenate-kinase-associated neurodegeneration: locus heterogeneity. ( 15365152 )
2004
39
Diffusion magnetic resonance imaging in infantile neuroaxonal dystrophy. ( 12544240 )
2003
40
Dysmorphic face in two siblings with infantile neuroaxonal dystrophy. ( 12558119 )
2002
41
Infantile neuroaxonal dystrophy (Seitelberger's disease). ( 12455862 )
2002
42
Distal infantile neuroaxonal dystrophy--a new familial variant with perineuronal argyrophilic bodies. ( 11547955 )
2001
43
Ictal and nonictal paroxysmal events in infantile neuroaxonal dystrophy: polygraphic study of a case. ( 11554895 )
2001
44
Proton MR spectroscopy reveals lactate in infantile neuroaxonal dystrophy (INAD). ( 11414651 )
2001
45
Infantile neuroaxonal dystrophy and giant axonal neuropathy--overlap diseases of neuronal cytoskeletal elements in childhood? ( 11048747 )
2000
46
Infantile neuroaxonal dystrophy: neuroradiological studies in 11 patients. ( 10379598 )
1999
47
Infantile neuroaxonal dystrophy: clinical spectrum and diagnostic criteria. ( 10227637 )
1999
48
Cerebral glucose metabolism in type I alpha-N-acetylgalactosaminidase deficiency: an infantile neuroaxonal dystrophy. ( 10456768 )
1999
49
Conjunctival biopsy in infantile neuroaxonal dystrophy. ( 9186140 )
1997
50
Ultrastructure and immunoreactivity of dystrophic axons indicate a different pathogenesis of Hallervorden-Spatz disease and infantile neuroaxonal dystrophy. ( 8548127 )
1995

Variations for Neurodegeneration with Brain Iron Accumulation 2a

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

75
# Symbol AA change Variation ID SNP ID
1 PLA2G6 p.Val310Glu VAR_029371 rs121908682
2 PLA2G6 p.Asp484Gly VAR_070600
3 PLA2G6 p.Thr661Met VAR_070601 rs767689496

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

6 (show top 50) (show all 149)
# Gene Variation Type Significance SNP ID Assembly Location
1 PLA2G6 NM_003560.3(PLA2G6): c.2370T> G (p.Tyr790Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121908680 GRCh37 Chromosome 22, 38508219: 38508219
2 PLA2G6 NM_003560.3(PLA2G6): c.2370T> G (p.Tyr790Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121908680 GRCh38 Chromosome 22, 38112212: 38112212
3 PLA2G6 NM_003560.3(PLA2G6): c.929T> A (p.Val310Glu) single nucleotide variant Pathogenic rs121908682 GRCh37 Chromosome 22, 38528986: 38528986
4 PLA2G6 NM_003560.3(PLA2G6): c.929T> A (p.Val310Glu) single nucleotide variant Pathogenic rs121908682 GRCh38 Chromosome 22, 38132979: 38132979
5 PLA2G6 NM_003560.3(PLA2G6): c.2070_2072delTGT (p.Val691del) deletion Pathogenic rs587784343 GRCh37 Chromosome 22, 38509624: 38509626
6 PLA2G6 NM_003560.3(PLA2G6): c.2070_2072delTGT (p.Val691del) deletion Pathogenic rs587784343 GRCh38 Chromosome 22, 38113617: 38113619
7 PLA2G6 NM_003560.3(PLA2G6): c.2370_2371delTG (p.Tyr790Terfs) deletion Pathogenic rs587784353 GRCh38 Chromosome 22, 38112211: 38112212
8 PLA2G6 NM_003560.3(PLA2G6): c.2370_2371delTG (p.Tyr790Terfs) deletion Pathogenic rs587784353 GRCh37 Chromosome 22, 38508218: 38508219
9 PLA2G6 NM_003560.3(PLA2G6): c.238G> A (p.Ala80Thr) single nucleotide variant Uncertain significance rs121908685 GRCh37 Chromosome 22, 38541632: 38541632
10 PLA2G6 NM_003560.3(PLA2G6): c.238G> A (p.Ala80Thr) single nucleotide variant Uncertain significance rs121908685 GRCh38 Chromosome 22, 38145625: 38145625
11 PLA2G6 NG_007094.2: g.(69605_69653)_(76237_76285)del deletion Pathogenic GRCh38 Chromosome 22, 38134406: 38141086
12 PLA2G6 NG_007094.2: g.(69605_69653)_(76237_76285)del deletion Pathogenic GRCh37 Chromosome 22, 38530413: 38537093
13 PLA2G6 NM_003560.3(PLA2G6): c.109C> T (p.Arg37Ter) single nucleotide variant Pathogenic rs200075782 GRCh37 Chromosome 22, 38565325: 38565325
14 PLA2G6 NM_003560.3(PLA2G6): c.109C> T (p.Arg37Ter) single nucleotide variant Pathogenic rs200075782 GRCh38 Chromosome 22, 38169318: 38169318
15 PLA2G6 NM_003560.3(PLA2G6): c.2340C> T (p.Asn780=) single nucleotide variant Conflicting interpretations of pathogenicity rs138683183 GRCh37 Chromosome 22, 38508249: 38508249
16 PLA2G6 NM_003560.3(PLA2G6): c.2340C> T (p.Asn780=) single nucleotide variant Conflicting interpretations of pathogenicity rs138683183 GRCh38 Chromosome 22, 38112242: 38112242
17 PLA2G6 NM_003560.3(PLA2G6): c.2128C> T (p.Arg710Cys) single nucleotide variant Likely pathogenic rs587784347 GRCh37 Chromosome 22, 38509568: 38509568
18 PLA2G6 NM_003560.3(PLA2G6): c.2128C> T (p.Arg710Cys) single nucleotide variant Likely pathogenic rs587784347 GRCh38 Chromosome 22, 38113561: 38113561
19 PLA2G6 NM_003560.3(PLA2G6): c.1903C> T (p.Arg635Ter) single nucleotide variant Pathogenic rs587784339 GRCh37 Chromosome 22, 38511665: 38511665
20 PLA2G6 NM_003560.3(PLA2G6): c.1903C> T (p.Arg635Ter) single nucleotide variant Pathogenic rs587784339 GRCh38 Chromosome 22, 38115658: 38115658
21 PLA2G6 NM_003560.3(PLA2G6): c.1742+12C> T single nucleotide variant Benign/Likely benign rs11570739 GRCh37 Chromosome 22, 38516754: 38516754
22 PLA2G6 NM_003560.3(PLA2G6): c.1742+12C> T single nucleotide variant Benign/Likely benign rs11570739 GRCh38 Chromosome 22, 38120747: 38120747
23 PLA2G6 NM_003560.3(PLA2G6): c.1725G> A (p.Thr575=) single nucleotide variant Uncertain significance rs200599704 GRCh37 Chromosome 22, 38516783: 38516783
24 PLA2G6 NM_003560.3(PLA2G6): c.1725G> A (p.Thr575=) single nucleotide variant Uncertain significance rs200599704 GRCh38 Chromosome 22, 38120776: 38120776
25 PLA2G6 NM_003560.3(PLA2G6): c.1501G> C (p.Glu501Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs587784332 GRCh37 Chromosome 22, 38519192: 38519192
26 PLA2G6 NM_003560.3(PLA2G6): c.1501G> C (p.Glu501Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs587784332 GRCh38 Chromosome 22, 38123185: 38123185
27 PLA2G6 NM_003560.3(PLA2G6): c.1117G> A (p.Gly373Arg) single nucleotide variant Pathogenic/Likely pathogenic rs587784327 GRCh37 Chromosome 22, 38525530: 38525530
28 PLA2G6 NM_003560.3(PLA2G6): c.1117G> A (p.Gly373Arg) single nucleotide variant Pathogenic/Likely pathogenic rs587784327 GRCh38 Chromosome 22, 38129523: 38129523
29 PLA2G6 NM_003560.3(PLA2G6): c.1086C> T (p.Asn362=) single nucleotide variant Benign/Likely benign rs2413502 GRCh37 Chromosome 22, 38525561: 38525561
30 PLA2G6 NM_003560.3(PLA2G6): c.1086C> T (p.Asn362=) single nucleotide variant Benign/Likely benign rs2413502 GRCh38 Chromosome 22, 38129554: 38129554
31 PLA2G6 NM_003560.3(PLA2G6): c.1027G> A (p.Ala343Thr) single nucleotide variant Benign/Likely benign rs11570680 GRCh37 Chromosome 22, 38528888: 38528888
32 PLA2G6 NM_003560.3(PLA2G6): c.1027G> A (p.Ala343Thr) single nucleotide variant Benign/Likely benign rs11570680 GRCh38 Chromosome 22, 38132881: 38132881
33 PLA2G6 NM_003560.3(PLA2G6): c.972G> A (p.Ala324=) single nucleotide variant Conflicting interpretations of pathogenicity rs147755372 GRCh37 Chromosome 22, 38528943: 38528943
34 PLA2G6 NM_003560.3(PLA2G6): c.972G> A (p.Ala324=) single nucleotide variant Conflicting interpretations of pathogenicity rs147755372 GRCh38 Chromosome 22, 38132936: 38132936
35 PLA2G6 NM_003560.3(PLA2G6): c.957G> A (p.Thr319=) single nucleotide variant Benign/Likely benign rs11570679 GRCh37 Chromosome 22, 38528958: 38528958
36 PLA2G6 NM_003560.3(PLA2G6): c.957G> A (p.Thr319=) single nucleotide variant Benign/Likely benign rs11570679 GRCh38 Chromosome 22, 38132951: 38132951
37 PLA2G6 NM_003560.3(PLA2G6): c.87G> A (p.Val29=) single nucleotide variant Benign/Likely benign rs2267369 GRCh37 Chromosome 22, 38565347: 38565347
38 PLA2G6 NM_003560.3(PLA2G6): c.87G> A (p.Val29=) single nucleotide variant Benign/Likely benign rs2267369 GRCh38 Chromosome 22, 38169340: 38169340
39 PLA2G6 NM_003560.3(PLA2G6): c.898G> A (p.Ala300Thr) single nucleotide variant Uncertain significance rs528966598 GRCh37 Chromosome 22, 38529017: 38529017
40 PLA2G6 NM_003560.3(PLA2G6): c.898G> A (p.Ala300Thr) single nucleotide variant Uncertain significance rs528966598 GRCh38 Chromosome 22, 38133010: 38133010
41 PLA2G6 NM_003560.3(PLA2G6): c.*541C> T single nucleotide variant Uncertain significance rs45473603 GRCh37 Chromosome 22, 38507627: 38507627
42 PLA2G6 NM_003560.3(PLA2G6): c.*541C> T single nucleotide variant Uncertain significance rs45473603 GRCh38 Chromosome 22, 38111620: 38111620
43 PLA2G6 NM_003560.3(PLA2G6): c.*183_*187delCCGCC deletion Likely benign rs139718702 GRCh37 Chromosome 22, 38507981: 38507985
44 PLA2G6 NM_003560.3(PLA2G6): c.*183_*187delCCGCC deletion Likely benign rs139718702 GRCh38 Chromosome 22, 38111974: 38111978
45 PLA2G6 NM_003560.3(PLA2G6): c.266C> A (p.Ser89Tyr) single nucleotide variant Uncertain significance rs142715413 GRCh38 Chromosome 22, 38145597: 38145597
46 PLA2G6 NM_003560.3(PLA2G6): c.266C> A (p.Ser89Tyr) single nucleotide variant Uncertain significance rs142715413 GRCh37 Chromosome 22, 38541604: 38541604
47 PLA2G6 NM_003560.3(PLA2G6): c.*589C> G single nucleotide variant Uncertain significance rs11570771 GRCh37 Chromosome 22, 38507579: 38507579
48 PLA2G6 NM_003560.3(PLA2G6): c.*589C> G single nucleotide variant Uncertain significance rs11570771 GRCh38 Chromosome 22, 38111572: 38111572
49 PLA2G6 NM_003560.3(PLA2G6): c.*473C> T single nucleotide variant Uncertain significance rs886057498 GRCh37 Chromosome 22, 38507695: 38507695
50 PLA2G6 NM_003560.3(PLA2G6): c.*473C> T single nucleotide variant Uncertain significance rs886057498 GRCh38 Chromosome 22, 38111688: 38111688

Expression for Neurodegeneration with Brain Iron Accumulation 2a

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

Pathways for Neurodegeneration with Brain Iron Accumulation 2a

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.65 FA2H NAGA PANK2 PLA2G6 RPS27A

GO Terms for Neurodegeneration with Brain Iron Accumulation 2a

Sources for Neurodegeneration with Brain Iron Accumulation 2a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
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34 ICD10 via Orphanet
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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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