MCID: NRX001
MIFTS: 40

Neuroaxonal Dystrophy

Categories: Neuronal diseases

Aliases & Classifications for Neuroaxonal Dystrophy

MalaCards integrated aliases for Neuroaxonal Dystrophy:

Name: Neuroaxonal Dystrophy 12 15
Neuroaxonal Dystrophies 55 44 73

Classifications:



External Ids:

Disease Ontology 12 DOID:2367
MeSH 44 D019150
SNOMED-CT 68 230365004
UMLS 73 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 33.3 NAGA PANK2 PLA2G6
2 neurodegeneration with brain iron accumulation 2b 32.7 PANK2 PLA2G6
3 neurodegeneration with brain iron accumulation 1 31.7 PANK2 PLA2G6 SNCA
4 osteopetrosis and infantile neuroaxonal dystrophy 12.1
5 neuroaxonal dystrophy renal tubular acidosis 12.1
6 schindler disease, type i 11.8
7 schindler disease 11.4
8 hunter carpenter macdonald syndrome 11.3
9 bile acid synthesis defect, congenital, 1 11.0
10 kanzaki disease 11.0
11 hypotonia, infantile, with psychomotor retardation and characteristic facies 1 11.0
12 synucleinopathy 11.0
13 karak syndrome 11.0
14 neuronitis 10.3
15 aging 10.2
16 neurodegeneration with brain iron accumulation 4 10.2 PANK2 PLA2G6
17 neurodegeneration with brain iron accumulation 5 10.2 PANK2 PLA2G6
18 dementia 10.1
19 dystonia 10.1
20 kufor-rakeb syndrome 10.1 PANK2 PLA2G6
21 neurodegeneration with brain iron accumulation 3 10.1 PANK2 PLA2G6
22 cerebritis 10.1
23 spasticity 10.1
24 neurodegeneration with brain iron accumulation 6 10.0 PANK2 PLA2G6
25 giant axonal neuropathy 1, autosomal recessive 10.0
26 neuronal ceroid lipofuscinosis 10.0
27 axonal neuropathy 10.0
28 neuropathy 10.0
29 giant axonal neuropathy 10.0
30 cerebellar degeneration 10.0
31 spastic paraparesis 10.0
32 alzheimer disease 9.8
33 amyotrophic lateral sclerosis 1 9.8
34 creutzfeldt-jakob disease 9.8
35 myelopathy, htlv-1-associated 9.8
36 fetal akinesia deformation sequence 9.8
37 cerebellar hypoplasia 9.8
38 niemann-pick disease, type c1 9.8
39 stroke, ischemic 9.8
40 brain injury 9.8
41 hereditary spastic paraplegia 9.8
42 niemann-pick disease 9.8
43 osteopetrosis 9.8
44 renal tubular acidosis 9.8
45 traumatic brain injury 9.8
46 biliary atresia 9.8
47 polyneuropathy 9.8
48 epilepsy 9.8
49 lateral sclerosis 9.8
50 tropical spastic paraparesis 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:

26 (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 IGF1 PLA2G6
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 IGF1 NTRK1 PLA2G6
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 IGF1 PLA2G6
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 NTRK1 PLA2G6
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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.91 IGF1 PLA2G6 NAGA NALCN SNCA NTF3
2 behavior/neurological MP:0005386 9.88 PLA2G6 NALCN SNCA NTF3 NTRK1 PANK2
3 immune system MP:0005387 9.8 PANK2 IGF1 PLA2G6 NAGA SNCA NTRK1
4 mortality/aging MP:0010768 9.8 IGF1 PLA2G6 NALCN SNCA NTF3 NTRK1
5 muscle MP:0005369 9.55 IGF1 PLA2G6 NTF3 NTRK1 PANK2
6 nervous system MP:0003631 9.5 IGF1 PLA2G6 NALCN SNCA NTF3 NTRK1
7 reproductive system MP:0005389 9.02 PANK2 IGF1 PLA2G6 SNCA NTF3

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 Long-term Deferiprone Treatment in Patients With Pantothenate Kinase-Associated Neurodegeneration Completed NCT02174848 Phase 3 Deferiprone oral solution;Deferiprone
2 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
3 Efficacy and Safety Study of Fosmetpantotenate (RE-024) in PKAN Patients Recruiting NCT03041116 Phase 3 fosmetpantotenate (RE-024);Placebo
4 A Study to Assess Efficacy and Safety of RT001 in Subjects With Infantile Neuroaxonal Dystrophy Not yet recruiting NCT03570931 Phase 2, Phase 3 RT001
5 Ferrochelating Treatment in Patients Affected by Neurodegeneration With Brain Iron Accumulation (NBIA) Unknown status NCT00907283 Phase 2 Deferiprone
6 Brain Perfusion in Pantothenate Kinase-associated Neurodegeneration (PKAN) Completed NCT01838018
7 NBIAready: Online Collection of Natural History Patient-reported Outcome Measures Recruiting NCT02587858
8 Compassionate Use of Deferiprone in Patients With PKAN Available NCT02635841 Deferiprone
9 Imaging Neuromelanin and Iron in Dystonia/Parkinsonism Not yet recruiting NCT03572114

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:

41
Brain, Skin, Pineal, Pancreatic Islet, Skeletal Muscle, Cortex, Retina

Publications for Neuroaxonal Dystrophy

Articles related to Neuroaxonal Dystrophy:

(show top 50) (show all 224)
# 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
A Missense Mutation in the Vacuolar Protein Sorting 11 (<i>VPS11</i>) Gene Is Associated with Neuroaxonal Dystrophy in Rottweiler Dogs. ( 29945969 )
2018
5
Neuroaxonal Dystrophy and Cavitating Leukoencephalopathy of Chihuahua Dogs. ( 28578630 )
2017
6
Perioperative considerations in infantile neuroaxonal dystrophy. ( 28177173 )
2017
7
A new PLA2G6 mutation in a family with infantile neuroaxonal dystrophy. ( 28991683 )
2017
8
Identification of the PLA2G6 c.1579G&amp;gt;A Missense Mutation in Papillon Dog Neuroaxonal Dystrophy Using Whole Exome Sequencing Analysis. ( 28107443 )
2017
9
PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia. ( 28295203 )
2017
10
Infantile neuroaxonal dystrophy and PLA2G6-associated neurodegeneration: An update for the diagnosis. ( 27884548 )
2017
11
Axonal spheroids in ovine neuroaxonal dystrophy are immunopositive to kinesin and dynein. ( 28754069 )
2017
12
Neuroaxonal Dystrophy in a Flock of Pied Imperial Pigeons (Ducula bicolor). ( 28391972 )
2017
13
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
14
Ultrastructural features of canine neuroaxonal dystrophy in a Papillon dog. ( 28993562 )
2017
15
Primary, congenital neuroaxonal dystrophy with peripheral nerve demyelination in Merino-Border Leicester A9 Polled Dorset lambs. ( 28901548 )
2017
16
Neurons and astrocytes in an infantile neuroaxonal dystrophy (INAD) mouse model show characteristic alterations in glutamate-induced Ca(2+) signaling. ( 28279750 )
2017
17
Reply: Glial mitochondropathy in infantile neuroaxonal dystrophy: pathophysiological and therapeutic implications. ( 27497489 )
2016
18
Transcriptome profiling of equine vitamin E deficient neuroaxonal dystrophy identifies upregulation of liver X receptor target genes. ( 27751910 )
2016
19
Genetic Analysis of PLA2G6 in 22 Indian Families with Infantile Neuroaxonal Dystrophy, Atypical Late-Onset Neuroaxonal Dystrophy and Dystonia Parkinsonism Complex. ( 27196560 )
2016
20
Monozygotic twins with infantile neuroaxonal dystrophy: A case report and literature review. ( 27882168 )
2016
21
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
22
Glial mitochondropathy in infantile neuroaxonal dystrophy: pathophysiological and therapeutic implications. ( 27497490 )
2016
23
Pathological findings in a Dachshund-cross dog with neuroaxonal dystrophy. ( 27267214 )
2016
24
TECPR2 Associated Neuroaxonal Dystrophy in Spanish Water Dogs. ( 26555167 )
2015
25
Novel PLA2G6 mutations associated with an exonic deletion due to non-allelic homologous recombination in a patient with infantile neuroaxonal dystrophy. ( 27081553 )
2015
26
Neuroaxonal dystrophy in PLA2G6 knockout mice. ( 25950622 )
2015
27
Blood and Cerebrospinal Fluid I+-Tocopherol and Selenium Concentrations in Neonatal Foals with Neuroaxonal Dystrophy. ( 26391904 )
2015
28
Infantile neuroaxonal dystrophy caused by uniparental disomy. ( 24628589 )
2014
29
Neuroaxonal dystrophy in Merino-Border Leicester A9 Polled Dorset lambs. ( 25123686 )
2014
30
Downbeat nystagmus as the presenting symptom of infantile neuroaxonal dystrophy: A case report. ( 24800972 )
2014
31
A Case of Infantile Neuroaxonal Dystrophy of Neonatal Onset. ( 24870368 )
2014
32
Pedigree analysis and exclusion of alpha-tocopherol transfer protein (TTPA) as a candidate gene for neuroaxonal dystrophy in the American Quarter Horse. ( 23186252 )
2013
33
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
34
Infantile neuroaxonal dystrophy: a rare cause of early childhood ataxia with poor prognosis. ( 23073992 )
2013
35
Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism. ( 23749988 )
2013
36
Severe disturbance in the Ca2+ signaling in astrocytes from mouse models of human infantile neuroaxonal dystrophy with mutated Pla2g6. ( 22442204 )
2012
37
Neuroaxonal dystrophy in Australian Merino lambs. ( 22055697 )
2012
38
Electrophysiological studies in American Quarter horses with neuroaxonal dystrophy. ( 22432889 )
2012
39
Neuroaxonal dystrophy in calcium-independent phospholipase A2I^ deficiency results from insufficient remodeling and degeneration of mitochondrial and presynaptic membranes. ( 21813701 )
2011
40
Evaluation of epidemiological, clinical, and pathological features of neuroaxonal dystrophy in Quarter Horses. ( 21916766 )
2011
41
A novel mitofusin 2 mutation causes canine fetal-onset neuroaxonal dystrophy. ( 21643798 )
2011
42
MRI Findings in Patients with Clinical Onset Consistent with Infantile Neuroaxonal Dystrophy (INAD), Literature Review, Clinical and MRI Follow-up. ( 24059609 )
2011
43
Inherited neuroaxonal dystrophy in dogs causing lethal, fetal-onset motor system dysfunction and cerebellar hypoplasia. ( 20653033 )
2010
44
Comparative study of cerebellar degeneration in canine neuroaxonal dystrophy, cerebellar cortical abiotrophy, and neuronal ceroid-lipofuscinosis. ( 20585192 )
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
Expression of PLA2G6 in human fetal development: Implications for infantile neuroaxonal dystrophy. ( 20813170 )
2010
48
Catalytic function of PLA2G6 is impaired by mutations associated with infantile neuroaxonal dystrophy but not dystonia-parkinsonism. ( 20886109 )
2010
49
Fetal akinesia deformation sequence and neuroaxonal dystrophy without PLA2G6 mutation. ( 20235854 )
2010
50
Neuroaxonal dystrophy associated with cerebellar dysfunction in a 5-month-old Pony of the Americas colt. ( 19747195 )
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

Cellular components related to Neuroaxonal Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial intermembrane space GO:0005758 8.96 PANK2 SNCA
2 axon GO:0030424 8.8 NTF3 NTRK1 SNCA

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 9.48 NTF3 SNCA
2 memory GO:0007613 9.46 NTF3 PLA2G6
3 response to nutrient levels GO:0031667 9.43 IGF1 NTRK1
4 negative regulation of neuron death GO:1901215 9.4 NTRK1 SNCA
5 phosphatidylinositol-mediated signaling GO:0048015 9.37 IGF1 NTRK1
6 activation of protein kinase B activity GO:0032148 9.32 IGF1 NTF3
7 cellular response to amyloid-beta GO:1904646 9.26 IGF1 NTRK1
8 positive regulation of Ras protein signal transduction GO:0046579 9.16 IGF1 NTRK1
9 negative regulation of neuron apoptotic process GO:0043524 9.13 NTF3 NTRK1 SNCA
10 nerve growth factor signaling pathway GO:0038180 8.62 NTF3 NTRK1

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
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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