MCID: NRX001
MIFTS: 40

Neuroaxonal Dystrophy

Categories: Neuronal diseases

Aliases & Classifications for Neuroaxonal Dystrophy

MalaCards integrated aliases for Neuroaxonal Dystrophy:

Name: Neuroaxonal Dystrophy 12 14
Neuroaxonal Dystrophies 51 41 69

Classifications:



External Ids:

Disease Ontology 12 DOID:2367
MeSH 41 D019150
SNOMED-CT 64 230365004
UMLS 69 C0338473

Summaries for Neuroaxonal Dystrophy

MalaCards based summary : Neuroaxonal Dystrophy, also known as neuroaxonal dystrophies, is related to neurodegeneration with brain iron accumulation 2a and neurodegeneration with brain iron accumulation 2b. An important gene associated with Neuroaxonal Dystrophy is NAGA (Alpha-N-Acetylgalactosaminidase), and among its related pathways/superpathways are PAK Pathway and Nanog in Mammalian ESC Pluripotency. The drugs Deferiprone and Iron have been mentioned in the context of this disorder. Affiliated tissues include brain, skin and pineal, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Related Diseases for Neuroaxonal Dystrophy

Diseases related to Neuroaxonal Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 66)
# Related Disease Score Top Affiliating Genes
1 neurodegeneration with brain iron accumulation 2a 33.4 NAGA PANK2 PLA2G6
2 neurodegeneration with brain iron accumulation 2b 32.5 PANK2 PLA2G6
3 neurodegeneration with brain iron accumulation 1 31.9 PANK2 PLA2G6 SNCA
4 amyotrophic lateral sclerosis 1 28.8 IGF1 NTRK1 SNCA
5 osteopetrosis and infantile neuroaxonal dystrophy 12.1
6 neuroaxonal dystrophy renal tubular acidosis 12.1
7 schindler disease, type i 11.8
8 schindler disease 11.3
9 hunter carpenter macdonald syndrome 11.3
10 bile acid synthesis defect, congenital, 1 11.0
11 kanzaki disease 11.0
12 hypotonia, infantile, with psychomotor retardation and characteristic facies 1 11.0
13 karak syndrome 11.0
14 neuronitis 10.3
15 aging 10.2
16 juvenile-onset parkinson disease 10.1 PANK2 PLA2G6
17 dementia 10.1
18 dystonia 10.1
19 neurodegeneration with brain iron accumulation 5 10.1 PANK2 PLA2G6
20 neurodegeneration with brain iron accumulation 4 10.1 PANK2 PLA2G6
21 cerebritis 10.1
22 spasticity 10.1
23 kufor-rakeb syndrome 10.1 PANK2 PLA2G6
24 neurodegeneration with brain iron accumulation 3 10.0 PANK2 PLA2G6
25 neurodegeneration with brain iron accumulation 6 10.0 PANK2 PLA2G6
26 giant axonal neuropathy 1, autosomal recessive 10.0
27 ataxia and polyneuropathy, adult-onset 10.0
28 neuronal ceroid lipofuscinosis 10.0
29 axonal neuropathy 10.0
30 neuropathy 10.0
31 giant axonal neuropathy 10.0
32 cerebellar degeneration 10.0
33 spastic paraparesis 10.0
34 dysautonomia 9.9 NTRK1 SNCA
35 alzheimer disease 9.8
36 creutzfeldt-jakob disease 9.8
37 myelopathy, htlv-1-associated 9.8
38 fetal akinesia deformation sequence 9.8
39 cerebellar hypoplasia 9.8
40 stroke, ischemic 9.8
41 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.8
42 brain injury 9.8
43 hereditary spastic paraplegia 9.8
44 niemann-pick disease 9.8
45 osteopetrosis 9.8
46 renal tubular acidosis 9.8
47 traumatic brain injury 9.8
48 biliary atresia 9.8
49 polyneuropathy 9.8
50 epilepsy 9.8

Graphical network of the top 20 diseases related to Neuroaxonal Dystrophy:



Diseases related to Neuroaxonal Dystrophy

Symptoms & Phenotypes for Neuroaxonal Dystrophy

GenomeRNAi Phenotypes related to Neuroaxonal Dystrophy according to GeneCards Suite gene sharing:

25 (show all 17)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.66 IGF1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.66 PLA2G6 IGF1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.66 IGF1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.66 PLA2G6 IGF1 NTRK1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.66 IGF1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.66 IGF1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.66 IGF1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.66 PLA2G6
9 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.66 IGF1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.66 IGF1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.66 PLA2G6 IGF1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.66 NTRK1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.66 NTRK1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.66 PLA2G6 NTRK1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.66 PLA2G6
16 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.66 NTRK1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.66 IGF1

MGI Mouse Phenotypes related to Neuroaxonal Dystrophy:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.91 PANK2 IGF1 PLA2G6 NAGA NALCN SNCA
2 behavior/neurological MP:0005386 9.88 NTF3 NTRK1 PANK2 PLA2G6 NALCN SNCA
3 immune system MP:0005387 9.8 NTRK1 PANK2 IGF1 PLA2G6 NAGA SNCA
4 mortality/aging MP:0010768 9.8 NTRK1 PANK2 IGF1 PLA2G6 NALCN SNCA
5 muscle MP:0005369 9.55 NTRK1 PANK2 IGF1 PLA2G6 NTF3
6 nervous system MP:0003631 9.5 NTRK1 PANK2 IGF1 PLA2G6 NALCN SNCA
7 reproductive system MP:0005389 9.02 NTF3 PANK2 IGF1 PLA2G6 SNCA

Drugs & Therapeutics for Neuroaxonal Dystrophy

Drugs for Neuroaxonal Dystrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Deferiprone Approved Phase 3,Phase 2 30652-11-0 2972
2
Iron Approved Phase 3,Phase 2 7439-89-6 23925
3 Chelating Agents Phase 3,Phase 2
4 Iron Chelating Agents Phase 3,Phase 2
5 Pharmaceutical Solutions Phase 3,Phase 2
6 Micronutrients Phase 2
7 Trace Elements Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Two-arm Efficacy and Safety Study of Deferiprone in Patients With Pantothenate Kinase-associated Neurodegeneration (PKAN) Completed NCT01741532 Phase 3 Deferiprone oral solution;Placebo oral solution
2 Efficacy and Safety Study of Fosmetpantotenate (RE-024) in PKAN Patients Recruiting NCT03041116 Phase 3 fosmetpantotenate (RE-024);Placebo
3 Long-term Deferiprone Treatment in Patients With Pantothenate Kinase-Associated Neurodegeneration Active, not recruiting NCT02174848 Phase 3 Deferiprone oral solution;Deferiprone
4 Ferrochelating Treatment in Patients Affected by Neurodegeneration With Brain Iron Accumulation (NBIA) Unknown status NCT00907283 Phase 2 Deferiprone
5 NBIAready: Online Collection of Natural History Patient-reported Outcome Measures Recruiting NCT02587858
6 Brain Perfusion in Pantothenate Kinase-associated Neurodegeneration (PKAN) Recruiting NCT01838018
7 Compassionate Use of Deferiprone in Patients With PKAN Available NCT02635841 Deferiprone

Search NIH Clinical Center for Neuroaxonal Dystrophy

Cochrane evidence based reviews: neuroaxonal dystrophies

Genetic Tests for Neuroaxonal Dystrophy

Anatomical Context for Neuroaxonal Dystrophy

MalaCards organs/tissues related to Neuroaxonal Dystrophy:

38
Brain, Skin, Pineal, Pancreatic Islet, Skeletal Muscle, Cortex, Retina

Publications for Neuroaxonal Dystrophy

Articles related to Neuroaxonal Dystrophy:

(show top 50) (show all 220)
# Title Authors Year
1
Spastic paraparesis with basal ganglia changes: Infantile neuroaxonal dystrophy. ( 29323006 )
2018
2
PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia. ( 28295203 )
2017
3
Identification of the PLA2G6 c.1579G>A Missense Mutation in Papillon Dog Neuroaxonal Dystrophy Using Whole Exome Sequencing Analysis. ( 28107443 )
2017
4
In this issue - November 2017: Chemosterilants in Bos indicusa88A^a88Colostrum quality in pasture-based dairy herdsa88A^a88Congenital neuroaxonal dystrophy in lambsa88A^a88Horse-keeping in Australiaa88A^a88Prognostic factors in canine acute pancreatitisa88A^a88Emmonsia parva in wombatsa88A^a88Vitamin D in short-beaked echidnas. ( 29076215 )
2017
5
Neuroaxonal Dystrophy and Cavitating Leukoencephalopathy of Chihuahua Dogs. ( 28578630 )
2017
6
Perioperative considerations in infantile neuroaxonal dystrophy. ( 28177173 )
2017
7
Ultrastructural features of canine neuroaxonal dystrophy in a Papillon dog. ( 28993562 )
2017
8
A new PLA2G6 mutation in a family with infantile neuroaxonal dystrophy. ( 28991683 )
2017
9
Axonal spheroids in ovine neuroaxonal dystrophy are immunopositive to kinesin and dynein. ( 28754069 )
2017
10
Neuroaxonal Dystrophy in a Flock of Pied Imperial Pigeons (Ducula bicolor). ( 28391972 )
2017
11
Infantile neuroaxonal dystrophy and PLA2G6-associated neurodegeneration: An update for the diagnosis. ( 27884548 )
2017
12
Primary, congenital neuroaxonal dystrophy with peripheral nerve demyelination in Merino-Border Leicester A9 Polled Dorset lambs. ( 28901548 )
2017
13
Neurons and astrocytes in an infantile neuroaxonal dystrophy (INAD) mouse model show characteristic alterations in glutamate-induced Ca(2+) signaling. ( 28279750 )
2017
14
Pathological findings in a Dachshund-cross dog with neuroaxonal dystrophy. ( 27267214 )
2016
15
Glial mitochondropathy in infantile neuroaxonal dystrophy: pathophysiological and therapeutic implications. ( 27497490 )
2016
16
Reply: Glial mitochondropathy in infantile neuroaxonal dystrophy: pathophysiological and therapeutic implications. ( 27497489 )
2016
17
Genetic Analysis of PLA2G6 in 22 Indian Families with Infantile Neuroaxonal Dystrophy, Atypical Late-Onset Neuroaxonal Dystrophy and Dystonia Parkinsonism Complex. ( 27196560 )
2016
18
Transcriptome profiling of equine vitamin E deficient neuroaxonal dystrophy identifies upregulation of liver X receptor target genes. ( 27751910 )
2016
19
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
20
Monozygotic twins with infantile neuroaxonal dystrophy: A case report and literature review. ( 27882168 )
2016
21
Neuroaxonal dystrophy in PLA2G6 knockout mice. ( 25950622 )
2015
22
TECPR2 Associated Neuroaxonal Dystrophy in Spanish Water Dogs. ( 26555167 )
2015
23
Blood and Cerebrospinal Fluid I+-Tocopherol and Selenium Concentrations in Neonatal Foals with Neuroaxonal Dystrophy. ( 26391904 )
2015
24
Novel PLA2G6 mutations associated with an exonic deletion due to non-allelic homologous recombination in a patient with infantile neuroaxonal dystrophy. ( 27081553 )
2015
25
A Case of Infantile Neuroaxonal Dystrophy of Neonatal Onset. ( 24870368 )
2014
26
Downbeat nystagmus as the presenting symptom of infantile neuroaxonal dystrophy: A case report. ( 24800972 )
2014
27
Neuroaxonal dystrophy in Merino-Border Leicester A9 Polled Dorset lambs. ( 25123686 )
2014
28
Infantile neuroaxonal dystrophy caused by uniparental disomy. ( 24628589 )
2014
29
Extensive aggregation of I+-synuclein and tau in juvenile-onset neuroaxonal dystrophy: an autopsied individual with a novel mutation in the PLA2G6 gene-splicing site. ( 24252552 )
2013
30
Infantile neuroaxonal dystrophy: a rare cause of early childhood ataxia with poor prognosis. ( 23073992 )
2013
31
Pedigree analysis and exclusion of alpha-tocopherol transfer protein (TTPA) as a candidate gene for neuroaxonal dystrophy in the American Quarter Horse. ( 23186252 )
2013
32
Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism. ( 23749988 )
2013
33
Severe disturbance in the Ca2+ signaling in astrocytes from mouse models of human infantile neuroaxonal dystrophy with mutated Pla2g6. ( 22442204 )
2012
34
Neuroaxonal dystrophy in Australian Merino lambs. ( 22055697 )
2012
35
Electrophysiological studies in American Quarter horses with neuroaxonal dystrophy. ( 22432889 )
2012
36
A novel mitofusin 2 mutation causes canine fetal-onset neuroaxonal dystrophy. ( 21643798 )
2011
37
Evaluation of epidemiological, clinical, and pathological features of neuroaxonal dystrophy in Quarter Horses. ( 21916766 )
2011
38
MRI Findings in Patients with Clinical Onset Consistent with Infantile Neuroaxonal Dystrophy (INAD), Literature Review, Clinical and MRI Follow-up. ( 24059609 )
2011
39
Neuroaxonal dystrophy in calcium-independent phospholipase A2I^ deficiency results from insufficient remodeling and degeneration of mitochondrial and presynaptic membranes. ( 21813701 )
2011
40
Catalytic function of PLA2G6 is impaired by mutations associated with infantile neuroaxonal dystrophy but not dystonia-parkinsonism. ( 20886109 )
2010
41
Comparative study of cerebellar degeneration in canine neuroaxonal dystrophy, cerebellar cortical abiotrophy, and neuronal ceroid-lipofuscinosis. ( 20585192 )
2010
42
Expression of PLA2G6 in human fetal development: Implications for infantile neuroaxonal dystrophy. ( 20813170 )
2010
43
Fetal akinesia deformation sequence and neuroaxonal dystrophy without PLA2G6 mutation. ( 20235854 )
2010
44
Inherited neuroaxonal dystrophy in dogs causing lethal, fetal-onset motor system dysfunction and cerebellar hypoplasia. ( 20653033 )
2010
45
Lysosomal compromise and brain dysfunction: examining the role of neuroaxonal dystrophy. ( 21118103 )
2010
46
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
47
Neuroaxonal dystrophy associated with cerebellar dysfunction in a 5-month-old Pony of the Americas colt. ( 19747195 )
2009
48
Immunohistochemical features of dystrophic axons in Papillon dogs with neuroaxonal dystrophy. ( 19176506 )
2009
49
Establishment of an improved mouse model for infantile neuroaxonal dystrophy that shows early disease onset and bears a point mutation in Pla2g6. ( 19893029 )
2009
50
Clinical study and PLA2G6 mutation screening analysis in Chinese patients with infantile neuroaxonal dystrophy. ( 19138334 )
2009

Variations for Neuroaxonal Dystrophy

Expression for Neuroaxonal Dystrophy

Search GEO for disease gene expression data for Neuroaxonal Dystrophy.

Pathways for Neuroaxonal Dystrophy

GO Terms for Neuroaxonal Dystrophy

Biological processes related to Neuroaxonal Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.4 NTF3 SNCA
2 negative regulation of neuron death GO:1901215 9.37 NTRK1 SNCA
3 phosphatidylinositol-mediated signaling GO:0048015 9.32 IGF1 NTRK1
4 activation of protein kinase B activity GO:0032148 9.26 IGF1 NTF3
5 cellular response to amyloid-beta GO:1904646 9.16 IGF1 NTRK1
6 positive regulation of Ras protein signal transduction GO:0046579 8.96 IGF1 NTRK1
7 negative regulation of neuron apoptotic process GO:0043524 8.8 NTF3 NTRK1 SNCA

Molecular functions related to Neuroaxonal Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neurotrophin p75 receptor binding GO:0005166 8.62 NTF3 NTRK1

Sources for Neuroaxonal Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....