MCID: NRX001
MIFTS: 34

Neuroaxonal Dystrophy

Categories: Neuronal diseases

Aliases & Classifications for Neuroaxonal Dystrophy

MalaCards integrated aliases for Neuroaxonal Dystrophy:

Name: Neuroaxonal Dystrophy 12 15
Neuroaxonal Dystrophies 54 43 71

Classifications:



External Ids:

Disease Ontology 12 DOID:2367
MeSH 43 D019150
UMLS 71 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 NALCN (Sodium Leak Channel, Non-Selective), and among its related pathways/superpathways are Neuroscience and Glucose / Energy Metabolism. The drugs Desipramine and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include brain, skin and cerebellum, and related phenotypes are behavior/neurological and nervous system

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 159)
# Related Disease Score Top Affiliating Genes
1 neurodegeneration with brain iron accumulation 2a 32.2 WDR45 PNPLA2 PLA2G6 PANK2 PANK1 NAGA
2 neurodegeneration with brain iron accumulation 1 31.4 WDR45 PLA2G6 PANK2 PANK1 FTL FA2H
3 spastic paraplegia 35, autosomal recessive 31.4 WDR45 PLA2G6 PANK2 FA2H C19orf12 ATP13A2
4 neurodegeneration with brain iron accumulation 2b 31.1 PNPLA2 PLA2G6 PANK2 PANK1 FTL FA2H
5 akinetic mutism 30.6 MBP ENO2
6 brain injury 30.5 MBP IGF1 ENO2
7 traumatic brain injury 30.5 MBP IGF1 ENO2
8 niemann-pick disease 30.4 PVALB MBP GAD1
9 paraplegia 29.9 TFG TECPR2 FA2H C19orf12 ATP13A2
10 hereditary spastic paraplegia 29.4 TFG TECPR2 PLA2G6 GAD1 FA2H C19orf12
11 dystonia 29.2 WDR45 PVALB PLA2G6 PANK2 NALCN FTL
12 aceruloplasminemia 28.7 WDR45 PNPLA2 PLA2G6 PANK2 PANK1 FTL
13 neurodegeneration with brain iron accumulation 28.5 WDR45 TECPR2 PNPLA2 PLA2G6 PANK2 PANK1
14 osteopetrosis and infantile neuroaxonal dystrophy 12.5
15 neuroaxonal dystrophy renal tubular acidosis 12.4
16 obsolete: neuroaxonal dystrophy-renal tubular acidosis syndrome 12.3
17 schindler disease, type i 12.3
18 schindler disease 11.7
19 hypotonia, infantile, with psychomotor retardation and characteristic facies 1 11.7
20 karak syndrome 11.6
21 bile acid synthesis defect, congenital, 1 11.3
22 kanzaki disease 11.3
23 ataxia and polyneuropathy, adult-onset 10.7
24 hypotonia 10.6
25 3-methylglutaconic aciduria, type iii 10.5
26 spasticity 10.5
27 pathologic nystagmus 10.4
28 urinary bladder small cell neuroendocrine carcinoma 10.4 GRP ENO2
29 cervical large cell neuroendocrine carcinoma 10.4 GRP ENO2
30 lung oat cell carcinoma 10.4 GRP ENO2
31 carcinoid syndrome 10.4 IGF1 ENO2
32 tremor 10.4
33 pulmonary artery leiomyosarcoma 10.4 GRP ENO2
34 autonomic neuropathy 10.4
35 endobronchial lipoma 10.4 GRP ENO2
36 neonatal hypoxic and ischemic brain injury 10.3 PVALB MBP ENO2
37 autosomal recessive disease 10.3
38 optic nerve glioma 10.3 MBP ENO2
39 oromandibular dystonia 10.3 PLA2G6 PANK2 C19orf12
40 yemenite deaf-blind hypopigmentation syndrome 10.3
41 scoliosis 10.3
42 quadriplegia 10.3
43 dementia 10.3
44 neuropathy 10.3
45 myoclonus 10.3
46 rare neurodegenerative disease 10.3
47 extraosseous chondrosarcoma 10.2 TFG ENO2
48 branchiootic syndrome 1 10.2
49 diabetic autonomic neuropathy 10.2
50 axonal neuropathy 10.2

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.73 ATP13A2 ENO2 FA2H GAD1 GRP MBP
2 nervous system MP:0003631 9.36 ATP13A2 ENO2 FA2H GAD1 GRP IGF1

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 Neurotransmitter Agents Phase 4
3 Psychotropic Drugs Phase 4
4 Antidepressive Agents Phase 4
5 Adrenergic Agents Phase 4
6 Antidepressive Agents, Tricyclic 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. Completed 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 Recruiting NCT03999814
4 Protocol RT001-009: A Natural History Study of Infantile Neuroaxonal Dystrophy 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 462)
# Title Authors PMID Year
1
Successful clinical application of pre-implantation genetic diagnosis for infantile neuroaxonal dystrophy. 61
32010257 2020
2
[Analysis of PLA2G6 gene variant in a family affected with infantile neuroaxonal dystrophy]. 61
31922589 2020
3
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
4
INAD and Duchenne muscular dystrophy, two ends of the iPLA2β spectrum. 61
32006920 2020
5
Genetic and phenotypic features of patients with childhood ataxias diagnosed by next-generation sequencing gene panel. 61
31493945 2020
6
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
7
Spontaneous Incidental Brain Lesions in C57BL/6J Mice. 61
31272300 2020
8
Previously Identified Genetic Variants in ADGRL3 Are not Associated with Risk for Equine Degenerative Myeloencephalopathy across Breeds. 61
31491999 2019
9
[Clinical features of infantile neuroaxonal dystrophy and PLA2G6 gene testing]. 61
31506141 2019
10
Quantitative susceptibility mapping (QSM) evaluation of infantile neuroaxonal dystrophy. 61
31501698 2019
11
Atypical Childhood-onset Neuroaxonal Dystrophy in an Indian Girl. 61
31516627 2019
12
[PLA2G6 compound complicated mutation in an atypical neuroaxonal dystrophy pedigree]. 61
30772976 2019
13
[Diagnostic algorithm for autosomal recessive ataxia]. 61
31626222 2019
14
PLA2G6-associated neurodegeneration presenting as a complicated form of hereditary spastic paraplegia. 61
30302010 2019
15
Phospholipase PLA2G6, a Parkinsonism-Associated Gene, Affects Vps26 and Vps35, Retromer Function, and Ceramide Levels, Similar to α-Synuclein Gain. 61
29909971 2018
16
Lipid peroxidation biomarkers for evaluating oxidative stress in equine neuroaxonal dystrophy. 61
30133798 2018
17
R106C TFG variant causes infantile neuroaxonal dystrophy "plus" syndrome. 61
29971521 2018
18
Infantile neuroaxonal dystrophy caused by PLA2G6 gene mutation in a Chinese patient: A case report. 61
30112060 2018
19
A Missense Mutation in the Vacuolar Protein Sorting 11 (VPS11) Gene Is Associated with Neuroaxonal Dystrophy in Rottweiler Dogs. 61
29945969 2018
20
Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family. 61
29739362 2018
21
Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases. 61
28914269 2018
22
NALCN Dysfunction as a Cause of Disordered Respiratory Rhythm With Central Apnea. 61
29610177 2018
23
Altered distribution of ATG9A and accumulation of axonal aggregates in neurons from a mouse model of AP-4 deficiency syndrome. 61
29698489 2018
24
Mutations in the Drosophila homolog of human PLA2G6 give rise to age-dependent loss of psychomotor activity and neurodegeneration. 61
29440694 2018
25
Corrigendum to "A new PLA2G6 mutation in a family with infantile neuroaxonal dystrophy" [J. Neurol. Sci. 381C (2017) 209-212]. 61
29254810 2018
26
Spastic paraparesis with basal ganglia changes: Infantile neuroaxonal dystrophy. 61
29323006 2018
27
PLA2G6-Associated Neurodegeneration (PLAN): Review of Clinical Phenotypes and Genotypes. 61
30619057 2018
28
Infantile Neuroaxonal Dystrophy: Diagnosis and Possible Treatments. 61
30619446 2018
29
Equine degenerative myeloencephalopathy: prevalence, impact, and management. 61
30234005 2018
30
Ultrastructural features of canine neuroaxonal dystrophy in a Papillon dog. 61
28993562 2017
31
PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia. 61
28295203 2017
32
Axonal spheroids in ovine neuroaxonal dystrophy are immunopositive to kinesin and dynein. 61
28754069 2017
33
Primary, congenital neuroaxonal dystrophy with peripheral nerve demyelination in Merino-Border Leicester × Polled Dorset lambs. 61
28901548 2017
34
Electron microscopic and confocal laser microscopy analysis of amyloid plaques in chronic wasting disease transmitted to transgenic mice. 61
29105545 2017
35
A new PLA2G6 mutation in a family with infantile neuroaxonal dystrophy. 61
28991683 2017
36
Neurons and astrocytes in an infantile neuroaxonal dystrophy (INAD) mouse model show characteristic alterations in glutamate-induced Ca2+ signaling. 61
28279750 2017
37
Neuroaxonal Dystrophy and Cavitating Leukoencephalopathy of Chihuahua Dogs. 61
28578630 2017
38
Pigment retinopathy in warmblood horses with equine degenerative myeloencephalopathy and equine motor neuron disease. 61
27491953 2017
39
Neuroaxonal Dystrophy in a Flock of Pied Imperial Pigeons (Ducula bicolor). 61
28391972 2017
40
Mutation screening of PLA2G6 in Japanese patients with early onset dystonia-parkinsonism. 61
27942883 2017
41
Perioperative considerations in infantile neuroaxonal dystrophy. 61
28177173 2017
42
Infantile neuroaxonal dystrophy and PLA2G6-associated neurodegeneration: An update for the diagnosis. 61
27884548 2017
43
Early Ataxia and Subsequent Parkinsonism: PLA2G6 Mutations Cause a Continuum Rather Than Three Discrete Phenotypes. 61
30868093 2017
44
Identification of the PLA2G6 c.1579G>A Missense Mutation in Papillon Dog Neuroaxonal Dystrophy Using Whole Exome Sequencing Analysis. 61
28107443 2017
45
Reply: Glial mitochondropathy in infantile neuroaxonal dystrophy: pathophysiological and therapeutic implications. 61
27497489 2016
46
Glial mitochondropathy in infantile neuroaxonal dystrophy: pathophysiological and therapeutic implications. 61
27497490 2016
47
Transcriptome profiling of equine vitamin E deficient neuroaxonal dystrophy identifies upregulation of liver X receptor target genes. 61
27751910 2016
48
Muscle biopsy findings in a child with NALCN gene mutation. 61
27473021 2016
49
Monozygotic twins with infantile neuroaxonal dystrophy: A case report and literature review. 61
27882168 2016
50
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. 61
27395788 2016

Variations for Neuroaxonal Dystrophy

Expression for Neuroaxonal Dystrophy

Search GEO for disease gene expression data for Neuroaxonal Dystrophy.

Pathways for Neuroaxonal Dystrophy

Pathways related to Neuroaxonal Dystrophy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.99 MBP GAD1 ENO2 ATP13A2
2 11.41 PNPLA2 PANK1 GAD1 ENO2
3 10.23 PANK2 PANK1

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 coenzyme A biosynthetic process GO:0015937 9.16 PANK2 PANK1
2 coenzyme biosynthetic process GO:0009108 8.96 PANK2 PANK1
3 autophagy GO:0006914 8.92 WDR45 TECPR2 C19orf12 ATP13A2

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

# Name GO ID Score Top Affiliating Genes
1 pantothenate kinase activity GO:0004594 8.62 PANK2 PANK1

Sources for Neuroaxonal Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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