MCID: NRD033
MIFTS: 59

Neurodegeneration with Brain Iron Accumulation 2a

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Metabolic 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 neuroaxonal dystrophy and neurodegeneration with brain iron accumulation 2b, and has symptoms including ataxia, seizures 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 are Glucose / Energy Metabolism and Neuroscience. The drug Iron has been mentioned in the context of this disorder. Affiliated tissues include brain, skin and eye, and related phenotypes are frontal bossing and nystagmus

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.

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.

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.

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.

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 599)
# Related Disease Score Top Affiliating Genes
1 neuroaxonal dystrophy 31.2 NAGA PANK2 PLA2G6
2 neurodegeneration with brain iron accumulation 2b 31.1 FA2H FBXO7 PANK2 PLA2G1B PLA2G6
3 dystonia 29.2 C19orf12 FA2H PANK2 PLA2G6
4 neurodegeneration with brain iron accumulation 1 28.7 C19orf12 COASY FA2H PANK2 PLA2G6
5 neurodegeneration with brain iron accumulation 27.1 ATP13A2 C19orf12 COASY FA2H FTL PANK2
6 osteopetrosis and infantile neuroaxonal dystrophy 12.2
7 lupus erythematosus 11.3
8 breast reconstruction 11.2
9 chronic fatigue syndrome 11.2
10 mitochondrial membrane protein-associated neurodegeneration 11.2
11 apraxia 11.1
12 developmental coordination disorder 11.1
13 developmental dyspraxia 11.1
14 major depressive disorder 11.0
15 diabetes mellitus 11.0
16 beta-thalassemia 11.0
17 obsessive-compulsive personality disorder 11.0
18 hypoglycemia 11.0
19 dystonia 11, myoclonic 10.7
20 pancreas, annular 10.7
21 citrullinemia, classic 10.7
22 hyperoxaluria, primary, type i 10.7
23 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities 10.7
24 smith-lemli-opitz syndrome 10.7
25 aplastic anemia 10.7
26 pitt-hopkins syndrome 10.7
27 fetal alcohol spectrum disorder 10.7
28 endogenous depression 10.7
29 rhizomelic chondrodysplasia punctata 10.7
30 epidermolysis bullosa simplex 10.7
31 kidney disease 10.7
32 foxp2-related speech and language disorders 10.7
33 tango2-related metabolic encephalopathy and arrhythmias 10.7
34 childhood apraxia of speech 10.7
35 cluttering 10.7
36 salivary gland cancer, adult 10.7
37 cerebral atrophy 10.7
38 neurodegeneration with brain iron accumulation 4 10.4 C19orf12 PANK2 PLA2G6
39 juvenile-onset parkinson's disease 10.2 ATP13A2 FBXO7 PLA2G6
40 prostatitis 10.2
41 prostate cancer 10.1
42 lung cancer 10.1
43 neurodegeneration with brain iron accumulation 5 10.1 C19orf12 COASY PANK2 PLA2G6
44 neurodegeneration with brain iron accumulation 6 10.1 C19orf12 COASY PANK2 PLA2G6
45 hereditary spastic paraplegia 10.0 ATP13A2 C19orf12 FA2H PLA2G6
46 kufor-rakeb syndrome 10.0 ATP13A2 FBXO7 PANK2 PLA2G6
47 breast cancer 10.0
48 cervicitis 10.0
49 neurodegeneration with brain iron accumulation 3 9.9 C19orf12 FA2H FTL PANK2 PLA2G6
50 cervical cancer 9.9

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 abnormal pyramidal signs 32 HP:0007256
10 hearing impairment 32 HP:0000365
11 global developmental delay 32 HP:0001263
12 short nose 32 HP:0003196
13 visual impairment 32 frequent (33%) HP:0000505
14 optic atrophy 32 hallmark (90%) HP:0000648
15 abnormality of visual evoked potentials 32 HP:0000649
16 spastic tetraplegia 32 HP:0002510
17 prominent forehead 32 HP:0011220
18 abnormality of metabolism/homeostasis 32 HP:0001939
19 generalized muscle weakness 32 HP:0003324
20 micrognathia 32 HP:0000347
21 strabismus 32 HP:0000486
22 decreased nerve conduction velocity 32 very rare (1%) HP:0000762
23 cachexia 32 frequent (33%) HP:0004326
24 visual loss 32 HP:0000572
25 neurodegeneration 32 HP:0002180
26 areflexia 32 very rare (1%) HP:0001284
27 cerebellar atrophy 32 HP:0001272
28 cerebral atrophy 32 HP:0002059
29 generalized hypotonia 32 HP:0001290
30 unsteady gait 32 HP:0002317
31 neuronal loss in central nervous system 32 HP:0002529
32 gliosis 32 HP:0002171
33 morphological abnormality of the pyramidal tract 32 HP:0002062
34 emg 32 HP:0003444

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


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

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.36 APP CP FA2H FBXO7 LGALS7B NAGA

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):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved 7439-89-6 23925

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
2 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, Skeletal Muscle, Retina

Publications for Neurodegeneration with Brain Iron Accumulation 2a

Articles related to Neurodegeneration with Brain Iron Accumulation 2a:

(show top 50) (show all 102)
# Title Authors Year
1
R106C TFG variant causes infantile neuroaxonal dystrophy "plus" 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
Spastic paraparesis with basal ganglia changes: Infantile neuroaxonal dystrophy. ( 29323006 )
2018
4
Perioperative considerations in infantile neuroaxonal dystrophy. ( 28177173 )
2017
5
A new PLA2G6 mutation in a family with infantile neuroaxonal dystrophy. ( 28991683 )
2017
6
Infantile neuroaxonal dystrophy and PLA2G6-associated neurodegeneration: An update for the diagnosis. ( 27884548 )
2017
7
Neurons and astrocytes in an infantile neuroaxonal dystrophy (INAD) mouse model show characteristic alterations in glutamate-induced Ca(2+) signaling. ( 28279750 )
2017
8
Reply: Glial mitochondropathy in infantile neuroaxonal dystrophy: pathophysiological and therapeutic implications. ( 27497489 )
2016
9
Genetic Analysis of PLA2G6 in 22 Indian Families with Infantile Neuroaxonal Dystrophy, Atypical Late-Onset Neuroaxonal Dystrophy and Dystonia Parkinsonism Complex. ( 27196560 )
2016
10
Monozygotic twins with infantile neuroaxonal dystrophy: A case report and literature review. ( 27882168 )
2016
11
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
12
Glial mitochondropathy in infantile neuroaxonal dystrophy: pathophysiological and therapeutic implications. ( 27497490 )
2016
13
Novel PLA2G6 mutations associated with an exonic deletion due to non-allelic homologous recombination in a patient with infantile neuroaxonal dystrophy. ( 27081553 )
2015
14
Infantile neuroaxonal dystrophy caused by uniparental disomy. ( 24628589 )
2014
15
Downbeat nystagmus as the presenting symptom of infantile neuroaxonal dystrophy: A case report. ( 24800972 )
2014
16
A Case of Infantile Neuroaxonal Dystrophy of Neonatal Onset. ( 24870368 )
2014
17
Infantile neuroaxonal dystrophy: a rare cause of early childhood ataxia with poor prognosis. ( 23073992 )
2013
18
Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism. ( 23749988 )
2013
19
Severe disturbance in the Ca2+ signaling in astrocytes from mouse models of human infantile neuroaxonal dystrophy with mutated Pla2g6. ( 22442204 )
2012
20
MRI Findings in Patients with Clinical Onset Consistent with Infantile Neuroaxonal Dystrophy (INAD), Literature Review, Clinical and MRI Follow-up. ( 24059609 )
2011
21
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
22
Expression of PLA2G6 in human fetal development: Implications for infantile neuroaxonal dystrophy. ( 20813170 )
2010
23
Catalytic function of PLA2G6 is impaired by mutations associated with infantile neuroaxonal dystrophy but not dystonia-parkinsonism. ( 20886109 )
2010
24
Clinical study and PLA2G6 mutation screening analysis in Chinese patients with infantile neuroaxonal dystrophy. ( 19138334 )
2009
25
Establishment of an improved mouse model for infantile neuroaxonal dystrophy that shows early disease onset and bears a point mutation in Pla2g6. ( 19893029 )
2009
26
Disrupted membrane homeostasis and accumulation of ubiquitinated proteins in a mouse model of infantile neuroaxonal dystrophy caused by PLA2G6 mutations. ( 18202189 )
2008
27
A case of infantile neuroaxonal dystrophy: connatal Seitelberger disease. ( 18287574 )
2008
28
Infantile neuroaxonal dystrophy: what's most important for the diagnosis? ( 18359254 )
2008
29
Cerebellar atrophy without cerebellar cortex hyperintensity in infantile neuroaxonal dystrophy (INAD) due to PLA2G6 mutation. ( 17254819 )
2007
30
Spontaneous murine neuroaxonal dystrophy: a model of infantile neuroaxonal dystrophy. ( 16542671 )
2006
31
PLA2G6 mutation underlies infantile neuroaxonal dystrophy. ( 17033970 )
2006
32
A new mouse model for infantile neuroaxonal dystrophy, inad mouse, maps to mouse chromosome 1. ( 15859351 )
2005
33
Cerebellar hypoperfusion in infantile neuroaxonal dystrophy. ( 15664778 )
2005
34
Infantile neuroaxonal dystrophy and pantothenate-kinase-associated neurodegeneration: locus heterogeneity. ( 15365152 )
2004
35
Diffusion magnetic resonance imaging in infantile neuroaxonal dystrophy. ( 12544240 )
2003
36
Dysmorphic face in two siblings with infantile neuroaxonal dystrophy. ( 12558119 )
2002
37
Infantile neuroaxonal dystrophy (Seitelberger's disease). ( 12455862 )
2002
38
Distal infantile neuroaxonal dystrophy--a new familial variant with perineuronal argyrophilic bodies. ( 11547955 )
2001
39
Ictal and nonictal paroxysmal events in infantile neuroaxonal dystrophy: polygraphic study of a case. ( 11554895 )
2001
40
Proton MR spectroscopy reveals lactate in infantile neuroaxonal dystrophy (INAD). ( 11414651 )
2001
41
Infantile neuroaxonal dystrophy and giant axonal neuropathy--overlap diseases of neuronal cytoskeletal elements in childhood? ( 11048747 )
2000
42
Infantile neuroaxonal dystrophy: neuroradiological studies in 11 patients. ( 10379598 )
1999
43
Infantile neuroaxonal dystrophy: clinical spectrum and diagnostic criteria. ( 10227637 )
1999
44
Cerebral glucose metabolism in type I alpha-N-acetylgalactosaminidase deficiency: an infantile neuroaxonal dystrophy. ( 10456768 )
1999
45
Conjunctival biopsy in infantile neuroaxonal dystrophy. ( 9186140 )
1997
46
Ultrastructure and immunoreactivity of dystrophic axons indicate a different pathogenesis of Hallervorden-Spatz disease and infantile neuroaxonal dystrophy. ( 8548127 )
1995
47
Association of infantile neuroaxonal dystrophy and osteopetrosis: a rare autosomal recessive disorder. ( 7577667 )
1995
48
Ictal video-EEG analysis of infantile neuroaxonal dystrophy. ( 8082629 )
1994
49
An ultrastructural study of the retina in human late infantile neuroaxonal dystrophy. ( 8460280 )
1993
50
Infantile neuroaxonal dystrophy--immunohistochemical and ultrastructural studies on the central and peripheral nervous systems in infantile neuroaxonal dystrophy. ( 8289437 )
1993

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 131)
# 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 NG_007094.2: g.(69605_69653)_(76237_76285)del deletion Pathogenic GRCh38 Chromosome 22, 38134406: 38141086
10 PLA2G6 NG_007094.2: g.(69605_69653)_(76237_76285)del deletion Pathogenic GRCh37 Chromosome 22, 38530413: 38537093
11 PLA2G6 NM_003560.3(PLA2G6): c.109C> T (p.Arg37Ter) single nucleotide variant Pathogenic rs200075782 GRCh37 Chromosome 22, 38565325: 38565325
12 PLA2G6 NM_003560.3(PLA2G6): c.109C> T (p.Arg37Ter) single nucleotide variant Pathogenic rs200075782 GRCh38 Chromosome 22, 38169318: 38169318
13 PLA2G6 NM_003560.3(PLA2G6): c.2340C> T (p.Asn780=) single nucleotide variant Benign/Likely benign rs138683183 GRCh37 Chromosome 22, 38508249: 38508249
14 PLA2G6 NM_003560.3(PLA2G6): c.2340C> T (p.Asn780=) single nucleotide variant Benign/Likely benign rs138683183 GRCh38 Chromosome 22, 38112242: 38112242
15 PLA2G6 NM_003560.3(PLA2G6): c.2128C> T (p.Arg710Cys) single nucleotide variant Likely pathogenic rs587784347 GRCh37 Chromosome 22, 38509568: 38509568
16 PLA2G6 NM_003560.3(PLA2G6): c.2128C> T (p.Arg710Cys) single nucleotide variant Likely pathogenic rs587784347 GRCh38 Chromosome 22, 38113561: 38113561
17 PLA2G6 NM_003560.3(PLA2G6): c.1903C> T (p.Arg635Ter) single nucleotide variant Pathogenic rs587784339 GRCh37 Chromosome 22, 38511665: 38511665
18 PLA2G6 NM_003560.3(PLA2G6): c.1903C> T (p.Arg635Ter) single nucleotide variant Pathogenic rs587784339 GRCh38 Chromosome 22, 38115658: 38115658
19 PLA2G6 NM_003560.3(PLA2G6): c.1742+12C> T single nucleotide variant Benign/Likely benign rs11570739 GRCh37 Chromosome 22, 38516754: 38516754
20 PLA2G6 NM_003560.3(PLA2G6): c.1742+12C> T single nucleotide variant Benign/Likely benign rs11570739 GRCh38 Chromosome 22, 38120747: 38120747
21 PLA2G6 NM_003560.3(PLA2G6): c.1725G> A (p.Thr575=) single nucleotide variant Uncertain significance rs200599704 GRCh37 Chromosome 22, 38516783: 38516783
22 PLA2G6 NM_003560.3(PLA2G6): c.1725G> A (p.Thr575=) single nucleotide variant Uncertain significance rs200599704 GRCh38 Chromosome 22, 38120776: 38120776
23 PLA2G6 NM_003560.3(PLA2G6): c.1351delC (p.Leu451Tyrfs) deletion Pathogenic rs587784329 GRCh37 Chromosome 22, 38522454: 38522454
24 PLA2G6 NM_003560.3(PLA2G6): c.1351delC (p.Leu451Tyrfs) deletion Pathogenic rs587784329 GRCh38 Chromosome 22, 38126447: 38126447
25 PLA2G6 NM_003560.3(PLA2G6): c.1117G> A (p.Gly373Arg) single nucleotide variant Pathogenic/Likely pathogenic rs587784327 GRCh37 Chromosome 22, 38525530: 38525530
26 PLA2G6 NM_003560.3(PLA2G6): c.1117G> A (p.Gly373Arg) single nucleotide variant Pathogenic/Likely pathogenic rs587784327 GRCh38 Chromosome 22, 38129523: 38129523
27 PLA2G6 NM_003560.3(PLA2G6): c.1086C> T (p.Asn362=) single nucleotide variant Benign/Likely benign rs2413502 GRCh37 Chromosome 22, 38525561: 38525561
28 PLA2G6 NM_003560.3(PLA2G6): c.1086C> T (p.Asn362=) single nucleotide variant Benign/Likely benign rs2413502 GRCh38 Chromosome 22, 38129554: 38129554
29 PLA2G6 NM_003560.3(PLA2G6): c.1027G> A (p.Ala343Thr) single nucleotide variant Benign/Likely benign rs11570680 GRCh37 Chromosome 22, 38528888: 38528888
30 PLA2G6 NM_003560.3(PLA2G6): c.1027G> A (p.Ala343Thr) single nucleotide variant Benign/Likely benign rs11570680 GRCh38 Chromosome 22, 38132881: 38132881
31 PLA2G6 NM_003560.3(PLA2G6): c.972G> A (p.Ala324=) single nucleotide variant Conflicting interpretations of pathogenicity rs147755372 GRCh37 Chromosome 22, 38528943: 38528943
32 PLA2G6 NM_003560.3(PLA2G6): c.972G> A (p.Ala324=) single nucleotide variant Conflicting interpretations of pathogenicity rs147755372 GRCh38 Chromosome 22, 38132936: 38132936
33 PLA2G6 NM_003560.3(PLA2G6): c.957G> A (p.Thr319=) single nucleotide variant Benign/Likely benign rs11570679 GRCh37 Chromosome 22, 38528958: 38528958
34 PLA2G6 NM_003560.3(PLA2G6): c.957G> A (p.Thr319=) single nucleotide variant Benign/Likely benign rs11570679 GRCh38 Chromosome 22, 38132951: 38132951
35 PLA2G6 NM_003560.3(PLA2G6): c.87G> A (p.Val29=) single nucleotide variant Benign/Likely benign rs2267369 GRCh37 Chromosome 22, 38565347: 38565347
36 PLA2G6 NM_003560.3(PLA2G6): c.87G> A (p.Val29=) single nucleotide variant Benign/Likely benign rs2267369 GRCh38 Chromosome 22, 38169340: 38169340
37 PLA2G6 NM_003560.3(PLA2G6): c.1942G> A (p.Gly648Arg) single nucleotide variant no interpretation for the single variant rs794729212 GRCh38 Chromosome 22, 38115619: 38115619
38 PLA2G6 NM_003560.3(PLA2G6): c.1942G> A (p.Gly648Arg) single nucleotide variant no interpretation for the single variant rs794729212 GRCh37 Chromosome 22, 38511626: 38511626
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 11.75 CP PLA2G1B PNPLA2 TOMM20
2 11.63 APP ATP13A2 FBXO7 RPS27A SNCB TOMM20
3 10.43 COASY PANK2

GO Terms for Neurodegeneration with Brain Iron Accumulation 2a

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.7 APP CP LGALS7 LGALS7B PLA2G1B PLA2G6
2 cytosol GO:0005829 9.7 APP C19orf12 COASY FBXO7 FTL PANK2
3 mitochondrion GO:0005739 9.17 C19orf12 COASY FBXO7 PANK2 PLA2G6 SNCB

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

# Name GO ID Score Top Affiliating Genes
1 post-translational protein modification GO:0043687 9.67 APP CP FBXO7 PNPLA2
2 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.58 APP PLA2G1B RPS27A
3 lipid catabolic process GO:0016042 9.5 PLA2G1B PLA2G6 PNPLA2
4 phosphatidylcholine acyl-chain remodeling GO:0036151 9.46 PLA2G1B PLA2G6
5 cellular protein metabolic process GO:0044267 9.46 APP CP PNPLA2 RPS27A
6 phosphatidylethanolamine acyl-chain remodeling GO:0036152 9.43 PLA2G1B PLA2G6
7 coenzyme A biosynthetic process GO:0015937 9.26 COASY PANK2
8 coenzyme biosynthetic process GO:0009108 8.96 COASY PANK2
9 cellular iron ion homeostasis GO:0006879 8.92 ATP13A2 CP FTL RPS27A

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

# Name GO ID Score Top Affiliating Genes
1 transition metal ion binding GO:0046914 9.16 APP SNCB
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 2a

3 CDC
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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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