MCID: NRX001
MIFTS: 38

Neuroaxonal Dystrophy

Categories: Neuronal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Neuroaxonal Dystrophy

MalaCards integrated aliases for Neuroaxonal Dystrophy:

Name: Neuroaxonal Dystrophy 12 14
Neuroaxonal Dystrophies 52 42 69

Classifications:



External Ids:

Disease Ontology 12 DOID:2367
MeSH 42 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 infantile neuroaxonal dystrophy 1 and neuroaxonal dystrophy renal tubular acidosis. 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 homeostasis/metabolism

Related Diseases for Neuroaxonal Dystrophy

Diseases in the Neuroaxonal Dystrophy family:

Infantile Neuroaxonal Dystrophy 1

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

(show top 50) (show all 65)
id Related Disease Score Top Affiliating Genes
1 infantile neuroaxonal dystrophy 1 12.4
2 neuroaxonal dystrophy renal tubular acidosis 11.9
3 osteopetrosis and infantile neuroaxonal dystrophy 11.9
4 schindler disease, type i 11.6
5 schindler disease 11.4
6 neurodegeneration with brain iron accumulation 1 11.0
7 neurodegeneration with brain iron accumulation 2b 11.0
8 karak syndrome 11.0
9 hypotonia, infantile, with psychomotor retardation and characteristic facies 1 10.9
10 bile acid synthesis defect, congenital, 1 10.9
11 kanzaki disease 10.9
12 hunter carpenter macdonald syndrome 10.9
13 glucose/galactose malabsorption 10.2 PANK2 PLA2G6
14 autosomal recessive early-onset parksinson disease 23 10.2 PANK2 PLA2G6
15 neuronitis 10.2
16 chondrodysplasia punctata, x-linked dominant 10.2 PANK2 PLA2G6
17 kufor-rakeb syndrome 10.1 PANK2 PLA2G6
18 herpes simplex encephalitis 7 10.1 PANK2 PLA2G6
19 naegeli-franceschetti-jadassohn syndrome 10.1 PANK2 PLA2G6
20 dystonia 10.1
21 dementia 10.1
22 spastic paraplegia 43, autosomal recessive 10.0 PANK2 PLA2G6
23 cerebritis 10.0
24 erb-duchenne and dejerine-klumpke palsies 9.9 NTRK1 SNCA
25 ataxia 9.9
26 axonal neuropathy 9.9
27 spasticity 9.9
28 neuropathy 9.9
29 neuronal ceroid lipofuscinosis 9.9
30 giant axonal neuropathy 9.9
31 cerebellar degeneration 9.9
32 parkinson disease 14, autosomal recessive 9.9 NAGA PANK2 PLA2G6
33 hereditary spastic paraplegia 9.8
34 niemann-pick disease 9.8
35 scrapie 9.8
36 osteopetrosis 9.8
37 paraplegia 9.8
38 encephalopathy 9.8
39 fetal akinesia deformation sequence 9.8
40 renal tubular acidosis 9.8
41 traumatic brain injury 9.8
42 pick disease 9.8
43 biliary atresia 9.8
44 zellweger syndrome 9.8
45 creutzfeldt-jakob disease 9.8
46 polyneuropathy 9.8
47 encephalitis 9.8
48 epilepsy 9.8
49 lateral sclerosis 9.8
50 diencephalic syndrome 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
id 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 NTRK1 PLA2G6 IGF1
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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.91 NALCN NTF3 PANK2 PLA2G6 SNCA IGF1
2 behavior/neurological MP:0005386 9.88 NALCN NTF3 NTRK1 PANK2 PLA2G6 SNCA
3 mortality/aging MP:0010768 9.8 IGF1 NALCN NTF3 NTRK1 PANK2 PLA2G6
4 immune system MP:0005387 9.72 IGF1 NTRK1 PANK2 PLA2G6 SNCA
5 muscle MP:0005369 9.55 IGF1 NTF3 NTRK1 PANK2 PLA2G6
6 nervous system MP:0003631 9.5 IGF1 NALCN NTF3 NTRK1 PANK2 PLA2G6
7 reproductive system MP:0005389 9.02 IGF1 NTF3 PANK2 PLA2G6 SNCA

Drugs & Therapeutics for Neuroaxonal Dystrophy

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

(show all 7)
id 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:


id 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:

39
Brain, Skin, Pineal, Pancreatic Islet, Skeletal Muscle, Cortex, Retina

Publications for Neuroaxonal Dystrophy

Articles related to Neuroaxonal Dystrophy:

(show top 50) (show all 216)
id Title Authors Year
1
Identification of the PLA2G6 c.1579G>A Missense Mutation in Papillon Dog Neuroaxonal Dystrophy Using Whole Exome Sequencing Analysis. ( 28107443 )
2017
2
Infantile neuroaxonal dystrophy and PLA2G6-associated neurodegeneration: An update for the diagnosis. ( 27884548 )
2017
3
PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia. ( 28295203 )
2017
4
Primary, congenital neuroaxonal dystrophy with peripheral nerve demyelination in Merino-Border Leicester A9 Polled Dorset lambs. ( 28901548 )
2017
5
Perioperative considerations in infantile neuroaxonal dystrophy. ( 28177173 )
2017
6
Neuroaxonal Dystrophy in a Flock of Pied Imperial Pigeons (Ducula bicolor). ( 28391972 )
2017
7
Axonal spheroids in ovine neuroaxonal dystrophy are immunopositive to kinesin and dynein. ( 28754069 )
2017
8
Neurons and astrocytes in an infantile neuroaxonal dystrophy (INAD) mouse model show characteristic alterations in glutamate-induced Ca(2+) signaling. ( 28279750 )
2017
9
Neuroaxonal Dystrophy and Cavitating Leukoencephalopathy of Chihuahua Dogs. ( 28578630 )
2017
10
Transcriptome profiling of equine vitamin E deficient neuroaxonal dystrophy identifies upregulation of liver X receptor target genes. ( 27751910 )
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
Pathological findings in a Dachshund-cross dog with neuroaxonal dystrophy. ( 27267214 )
2016
13
Genetic Analysis of PLA2G6 in 22 Indian Families with Infantile Neuroaxonal Dystrophy, Atypical Late-Onset Neuroaxonal Dystrophy and Dystonia Parkinsonism Complex. ( 27196560 )
2016
14
Reply: Glial mitochondropathy in infantile neuroaxonal dystrophy: pathophysiological and therapeutic implications. ( 27497489 )
2016
15
Glial mitochondropathy in infantile neuroaxonal dystrophy: pathophysiological and therapeutic implications. ( 27497490 )
2016
16
Monozygotic twins with infantile neuroaxonal dystrophy: A case report and literature review. ( 27882168 )
2016
17
Neuroaxonal dystrophy in PLA2G6 knockout mice. ( 25950622 )
2015
18
Novel PLA2G6 mutations associated with an exonic deletion due to non-allelic homologous recombination in a patient with infantile neuroaxonal dystrophy. ( 27081553 )
2015
19
TECPR2 Associated Neuroaxonal Dystrophy in Spanish Water Dogs. ( 26555167 )
2015
20
Blood and Cerebrospinal Fluid I+-Tocopherol and Selenium Concentrations in Neonatal Foals with Neuroaxonal Dystrophy. ( 26391904 )
2015
21
Downbeat nystagmus as the presenting symptom of infantile neuroaxonal dystrophy: A case report. ( 24800972 )
2014
22
A Case of Infantile Neuroaxonal Dystrophy of Neonatal Onset. ( 24870368 )
2014
23
Neuroaxonal dystrophy in Merino-Border Leicester A9 Polled Dorset lambs. ( 25123686 )
2014
24
Infantile neuroaxonal dystrophy caused by uniparental disomy. ( 24628589 )
2014
25
Infantile neuroaxonal dystrophy: a rare cause of early childhood ataxia with poor prognosis. ( 23073992 )
2013
26
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
27
Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism. ( 23749988 )
2013
28
Pedigree analysis and exclusion of alpha-tocopherol transfer protein (TTPA) as a candidate gene for neuroaxonal dystrophy in the American Quarter Horse. ( 23186252 )
2013
29
Electrophysiological studies in American Quarter horses with neuroaxonal dystrophy. ( 22432889 )
2012
30
Neuroaxonal dystrophy in Australian Merino lambs. ( 22055697 )
2012
31
Severe disturbance in the Ca2+ signaling in astrocytes from mouse models of human infantile neuroaxonal dystrophy with mutated Pla2g6. ( 22442204 )
2012
32
Neuroaxonal dystrophy in calcium-independent phospholipase A2I^ deficiency results from insufficient remodeling and degeneration of mitochondrial and presynaptic membranes. ( 21813701 )
2011
33
MRI Findings in Patients with Clinical Onset Consistent with Infantile Neuroaxonal Dystrophy (INAD), Literature Review, Clinical and MRI Follow-up. ( 24059609 )
2011
34
Evaluation of epidemiological, clinical, and pathological features of neuroaxonal dystrophy in Quarter Horses. ( 21916766 )
2011
35
A novel mitofusin 2 mutation causes canine fetal-onset neuroaxonal dystrophy. ( 21643798 )
2011
36
Fetal akinesia deformation sequence and neuroaxonal dystrophy without PLA2G6 mutation. ( 20235854 )
2010
37
Catalytic function of PLA2G6 is impaired by mutations associated with infantile neuroaxonal dystrophy but not dystonia-parkinsonism. ( 20886109 )
2010
38
Expression of PLA2G6 in human fetal development: Implications for infantile neuroaxonal dystrophy. ( 20813170 )
2010
39
Comparative study of cerebellar degeneration in canine neuroaxonal dystrophy, cerebellar cortical abiotrophy, and neuronal ceroid-lipofuscinosis. ( 20585192 )
2010
40
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
41
Lysosomal compromise and brain dysfunction: examining the role of neuroaxonal dystrophy. ( 21118103 )
2010
42
Inherited neuroaxonal dystrophy in dogs causing lethal, fetal-onset motor system dysfunction and cerebellar hypoplasia. ( 20653033 )
2010
43
Neuroaxonal dystrophy associated with cerebellar dysfunction in a 5-month-old Pony of the Americas colt. ( 19747195 )
2009
44
Establishment of an improved mouse model for infantile neuroaxonal dystrophy that shows early disease onset and bears a point mutation in Pla2g6. ( 19893029 )
2009
45
Immunohistochemical features of dystrophic axons in Papillon dogs with neuroaxonal dystrophy. ( 19176506 )
2009
46
Clinical study and PLA2G6 mutation screening analysis in Chinese patients with infantile neuroaxonal dystrophy. ( 19138334 )
2009
47
Autosomal dominant sensory ataxia: a neuroaxonal dystrophy. ( 18347805 )
2008
48
Disrupted membrane homeostasis and accumulation of ubiquitinated proteins in a mouse model of infantile neuroaxonal dystrophy caused by PLA2G6 mutations. ( 18202189 )
2008
49
Neuroaxonal dystrophy caused by group VIA phospholipase A2 deficiency in mice: a model of human neurodegenerative disease. ( 18305254 )
2008
50
Infantile neuroaxonal dystrophy: what's most important for the diagnosis? ( 18359254 )
2008

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:

id Name GO ID Score Top Affiliating Genes
1 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.32 NTF3 SNCA
2 negative regulation of neuron death GO:1901215 9.26 NTRK1 SNCA
3 activation of protein kinase B activity GO:0032148 9.16 IGF1 NTF3
4 positive regulation of Ras protein signal transduction GO:0046579 8.96 IGF1 NTRK1
5 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:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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