MCID: NRX001
MIFTS: 38

Neuroaxonal Dystrophy

Categories: Neuronal diseases

Aliases & Classifications for Neuroaxonal Dystrophy

MalaCards integrated aliases for Neuroaxonal Dystrophy:

Name: Neuroaxonal Dystrophy 12 15
Neuroaxonal Dystrophies 54 44 70

Classifications:



External Ids:

Disease Ontology 12 DOID:2367
MeSH 44 D019150
NCIt 50 C161542
SNOMED-CT 67 230365004
UMLS 70 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 1. An important gene associated with Neuroaxonal Dystrophy is NAGA (Alpha-N-Acetylgalactosaminidase), and among its related pathways/superpathways are Ras signaling pathway and Immune response IFN alpha/beta signaling pathway. The drugs Desipramine and Psychotropic Drugs have been mentioned in the context of this disorder. Affiliated tissues include brain, skin and cerebellum, and related phenotypes are behavior/neurological and growth/size/body region

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 184)
# Related Disease Score Top Affiliating Genes
1 neurodegeneration with brain iron accumulation 2a 32.8 PNPLA2 PLA2G6 PANK2 NAGA FA2H C19orf12
2 neurodegeneration with brain iron accumulation 1 31.9 SNCA PLA2G6 PANK2 FA2H C19orf12
3 neurodegeneration with brain iron accumulation 2b 31.8 PNPLA2 PLA2G6 PANK2 FA2H C19orf12
4 spastic paraplegia 35, autosomal recessive 31.7 PLA2G6 PANK2 FA2H C19orf12
5 scrapie 30.4 SNCA PVALB ENO2
6 dystonia 30.4 PVALB PLA2G6 PANK2 NALCN FA2H C19orf12
7 autonomic neuropathy 30.3 TECPR2 NTRK1 NTF3 NGF
8 traumatic brain injury 30.3 MBP IGF1 ENO2
9 akinetic mutism 30.3 SNCA MBP ENO2
10 diabetic neuropathy 30.2 NTRK1 NTF3 NGF
11 creutzfeldt-jakob disease 30.2 SNCA PVALB NGF ENO2
12 paraplegia 30.2 TFG TECPR2 FA2H C19orf12
13 hydrocephalus 30.1 NTF3 NGF MBP IGF1 ENO2
14 niemann-pick disease 30.0 SNCA PVALB MBP GAD1
15 sensory peripheral neuropathy 30.0 NTRK1 NTF3 NGF
16 neuropathy 29.8 TFG TECPR2 NTRK1 NTF3 NGF MBP
17 neurodegeneration with brain iron accumulation 29.8 TECPR2 SNCA PNPLA2 PLA2G6 PANK2 FA2H
18 hereditary spastic paraplegia 29.7 TFG TECPR2 PLA2G6 GAD1 FA2H C19orf12
19 parkinson disease, late-onset 29.7 SNCA PVALB PLA2G6 NTF3 NGF MBP
20 motor neuron disease 29.7 TECPR2 SNCA PVALB NTF3 IGF1
21 peripheral nervous system disease 29.4 SNCA NTRK1 NTF3 NGF MBP IGF1
22 amyotrophic lateral sclerosis 1 29.2 SNCA PVALB NTRK1 NTF3 NGF IGF1
23 charcot-marie-tooth disease 29.1 TFG NTRK1 NTF3 NGF MBP
24 schindler disease, type i 11.5
25 csf1r-related brain malformation and osteopetrosis 11.4
26 neuroaxonal dystrophy renal tubular acidosis 11.3
27 osteopetrosis and infantile neuroaxonal dystrophy 11.3
28 schindler disease 11.2
29 karak syndrome 11.1
30 kanzaki disease 11.1
31 hypotonia, infantile, with psychomotor retardation and characteristic facies 1 11.1
32 bile acid synthesis defect, congenital, 1 11.1
33 hypotonia 10.6
34 ataxia and polyneuropathy, adult-onset 10.6
35 3-methylglutaconic aciduria, type iii 10.4
36 spasticity 10.4
37 pathologic nystagmus 10.4
38 parkinsonism 10.4
39 urinary bladder small cell neuroendocrine carcinoma 10.4 GRP ENO2
40 pulmonary artery leiomyosarcoma 10.3 GRP ENO2
41 tremor 10.3
42 multiple mucosal neuroma 10.3 NTRK1 ENO2
43 neonatal hypoxic and ischemic brain injury 10.3 PVALB MBP ENO2
44 color agnosia 10.3 SNCA MBP
45 brain injury 10.3 MBP IGF1 ENO2
46 endobronchial lipoma 10.3 GRP ENO2
47 carcinoid syndrome 10.3 IGF1 ENO2
48 adrenal neuroblastoma 10.3 NTRK1 ENO2
49 autosomal recessive disease 10.3
50 focal hand dystonia 10.3 PVALB PANK2

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



Diseases related to Neuroaxonal Dystrophy

Symptoms & Phenotypes for Neuroaxonal Dystrophy

MGI Mouse Phenotypes related to Neuroaxonal Dystrophy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.28 ENO2 FA2H GAD1 GRP MBP NALCN
2 growth/size/body region MP:0005378 10.22 ENO2 GAD1 GRP IGF1 MBP NALCN
3 homeostasis/metabolism MP:0005376 10.21 FA2H GAD1 GRP IGF1 MBP NAGA
4 nervous system MP:0003631 10.1 ENO2 FA2H GAD1 GRP IGF1 MBP
5 muscle MP:0005369 9.92 IGF1 NGF NTF3 NTRK1 PANK2 PLA2G6
6 no phenotypic analysis MP:0003012 9.7 FA2H GAD1 NALCN NGF NTRK1 PVALB
7 normal MP:0002873 9.56 GAD1 IGF1 MBP NGF NTF3 NTRK1
8 respiratory system MP:0005388 9.17 ENO2 GAD1 GRP IGF1 NALCN 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
Desipramine Approved, Investigational Phase 4 50-47-5 2995
2 Psychotropic Drugs Phase 4
3 Antidepressive Agents, Tricyclic Phase 4
4 Adrenergic Agents Phase 4
5 Neurotransmitter Agents Phase 4
6 Antidepressive Agents Phase 4
7 Linoleate Phase 2, Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Novel Off-label Use of Desipramine in Infantile Neuroaxonal Dystrophy: Targeting the Sphingolipid Metabolism Pathway to Reduce Accumulation of Ceramide. Terminated NCT03726996 Phase 4 Desipramine
2 A Prospective Open-label Study to Assess Efficacy and Safety of RT001 in Subjects With Infantile Neuroaxonal Dystrophy Active, not recruiting NCT03570931 Phase 2, Phase 3 RT001
3 A Retrospective Review of the Natural History of Infantile Neuroaxonal Dystrophy Completed NCT03999814
4 Protocol RT001-009: A Natural History Study of Infantile Neuroaxonal Dystrophy Active, not recruiting NCT04027816

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:

40
Brain, Skin, Cerebellum, Cortex, Spinal Cord, Pineal, Retina

Publications for Neuroaxonal Dystrophy

Articles related to Neuroaxonal Dystrophy:

(show top 50) (show all 472)
# Title Authors PMID Year
1
Effect of NGF and neurotrophin-3 treatment on experimental diabetic autonomic neuropathy. 61 54
11245210 2001
2
Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: no association with neuroaxonal dystrophy? 61 54
11313741 2001
3
Effect of IGF-I and neurotrophin-3 on gracile neuroaxonal dystrophy in diabetic and aging rats. 54 61
10973596 2000
4
Juvenile-onset generalized neuroaxonal dystrophy (Hallervorden-Spatz disease) with diffuse neurofibrillary and lewy body pathology. 61 54
10663979 2000
5
Tyrosine kinase A-nerve growth factor receptor is antigenically present in dystrophic neurites from a variety of conditions but not in Alzheimer's disease. 61 54
10505654 1999
6
Neuroaxonal dystrophy in infantile alpha-N-acetylgalactosaminidase deficiency. 61 54
8523030 1995
7
Angiokeratoma corporis diffusum with glycopeptiduria due to deficient lysosomal alpha-N-acetylgalactosaminidase activity. Clinical, morphologic, and biochemical studies. 54 61
8466216 1993
8
Neuroaxonal dystrophy in HTLV-1-associated myelopathy/tropical spastic paraparesis: neuropathologic and neuroimmunologic correlations. 61 54
8213080 1993
9
Lysosomal alpha-N-acetylgalactosaminidase deficiency, the enzymatic defect in angiokeratoma corporis diffusum with glycopeptiduria. 54 61
1907616 1991
10
Schindler disease: an inherited neuroaxonal dystrophy due to alpha-N-acetylgalactosaminidase deficiency. 54 61
2122121 1990
11
Skin biopsy as an aid to diagnosis of disorders of the nervous system without cutaneous manifestations. 61
33709389 2021
12
Typical MRI features of PLA2G6 mutation-related phospholipase-associated neurodegeneration (PLAN)/infantile neuroaxonal dystrophy (INAD). 61
33766980 2021
13
Determination of vitamin E and its metabolites in equine urine using liquid chromatography-mass spectrometry. 61
33527764 2021
14
Compound heterozygous PLA2G6 loss-of-function variants in Swaledale sheep with neuroaxonal dystrophy. 61
33159255 2021
15
A tecpr2 knockout mouse exhibits age-dependent neuroaxonal dystrophy associated with autophagosome accumulation. 61
33218264 2020
16
Initial survey of PLA2G6 missense variant causing neuroaxonal dystrophy in Papillon dogs in North America and Europe. 61
33292730 2020
17
Treatment of infantile neuroaxonal dystrophy with RT001: A di-deuterated ethyl ester of linoleic acid: Report of two cases. 61
32685351 2020
18
The infantile neuroaxonal dystrophy rating scale (INAD-RS). 61
32727524 2020
19
The natural history of infantile neuroaxonal dystrophy. 61
32357911 2020
20
INAD and Duchenne muscular dystrophy, two ends of the iPLA2β spectrum. 61
32006920 2020
21
Successful clinical application of pre-implantation genetic diagnosis for infantile neuroaxonal dystrophy. 61
32010257 2020
22
Infantile neuroaxonal dystrophy in a pair of Malaysian siblings with progressive cerebellar atrophy: Description of an expanded phenotype with novel PLA2G6 variants. 61
31493991 2020
23
Reevaluating the pathogenicity of the variations c.439 G>A and c.2132 C>T in the PLA2G6 gene. 61
33361639 2020
24
[Analysis of PLA2G6 gene variant in a family affected with infantile neuroaxonal dystrophy]. 61
31922589 2020
25
Genetic and phenotypic features of patients with childhood ataxias diagnosed by next-generation sequencing gene panel. 61
31493945 2020
26
Genome-Wide Association Study and Subsequent Exclusion of ATCAY as a Candidate Gene Involved in Equine Neuroaxonal Dystrophy Using Two Animal Models. 61
31936863 2020
27
Spontaneous Incidental Brain Lesions in C57BL/6J Mice. 61
31272300 2020
28
Previously Identified Genetic Variants in ADGRL3 Are not Associated with Risk for Equine Degenerative Myeloencephalopathy across Breeds. 61
31491999 2019
29
[Clinical features of infantile neuroaxonal dystrophy and PLA2G6 gene testing]. 61
31506141 2019
30
Quantitative susceptibility mapping (QSM) evaluation of infantile neuroaxonal dystrophy. 61
31501698 2019
31
Atypical Childhood-onset Neuroaxonal Dystrophy in an Indian Girl. 61
31516627 2019
32
[PLA2G6 compound complicated mutation in an atypical neuroaxonal dystrophy pedigree]. 61
30772976 2019
33
PLA2G6-associated neurodegeneration presenting as a complicated form of hereditary spastic paraplegia. 61
30302010 2019
34
[Diagnostic algorithm for autosomal recessive ataxia]. 61
31626222 2019
35
Phospholipase PLA2G6, a Parkinsonism-Associated Gene, Affects Vps26 and Vps35, Retromer Function, and Ceramide Levels, Similar to α-Synuclein Gain. 61
29909971 2018
36
Lipid peroxidation biomarkers for evaluating oxidative stress in equine neuroaxonal dystrophy. 61
30133798 2018
37
R106C TFG variant causes infantile neuroaxonal dystrophy "plus" syndrome. 61
29971521 2018
38
Infantile neuroaxonal dystrophy caused by PLA2G6 gene mutation in a Chinese patient: A case report. 61
30112060 2018
39
A Missense Mutation in the Vacuolar Protein Sorting 11 (VPS11) Gene Is Associated with Neuroaxonal Dystrophy in Rottweiler Dogs. 61
29945969 2018
40
Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family. 61
29739362 2018
41
NALCN Dysfunction as a Cause of Disordered Respiratory Rhythm With Central Apnea. 61
29610177 2018
42
Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases. 61
28914269 2018
43
Altered distribution of ATG9A and accumulation of axonal aggregates in neurons from a mouse model of AP-4 deficiency syndrome. 61
29698489 2018
44
Mutations in the Drosophila homolog of human PLA2G6 give rise to age-dependent loss of psychomotor activity and neurodegeneration. 61
29440694 2018
45
Corrigendum to "A new PLA2G6 mutation in a family with infantile neuroaxonal dystrophy" [J. Neurol. Sci. 381C (2017) 209-212]. 61
29254810 2018
46
Infantile Neuroaxonal Dystrophy: Diagnosis and Possible Treatments. 61
30619446 2018
47
PLA2G6-Associated Neurodegeneration (PLAN): Review of Clinical Phenotypes and Genotypes. 61
30619057 2018
48
Spastic paraparesis with basal ganglia changes: Infantile neuroaxonal dystrophy. 61
29323006 2018
49
Equine degenerative myeloencephalopathy: prevalence, impact, and management. 61
30234005 2018
50
Ultrastructural features of canine neuroaxonal dystrophy in a Papillon dog. 61
28993562 2017

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 neuronal cell body GO:0043025 9.35 SNCA PVALB NTRK1 MBP ENO2
2 axon GO:0030424 9.1 SNCA PVALB NTRK1 NTF3 NGF GAD1

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.58 NTRK1 NTF3 IGF1
2 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.54 SNCA NTF3 NGF
3 memory GO:0007613 9.5 PLA2G6 NTF3 NGF
4 neurotrophin TRK receptor signaling pathway GO:0048011 9.46 NTRK1 NGF
5 negative regulation of neuron apoptotic process GO:0043524 9.46 SNCA NTRK1 NTF3 NGF
6 nerve development GO:0021675 9.43 NTF3 NGF
7 phosphatidylinositol-mediated signaling GO:0048015 9.43 NTRK1 NGF IGF1
8 positive regulation of Ras protein signal transduction GO:0046579 9.13 NTRK1 NGF IGF1
9 nerve growth factor signaling pathway GO:0038180 8.8 NTRK1 NTF3 NGF

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

# Name GO ID Score Top Affiliating Genes
1 nerve growth factor receptor binding GO:0005163 8.62 NTF3 NGF

Sources for Neuroaxonal Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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