MCID: NRX001
MIFTS: 35

Neuroaxonal Dystrophy

Categories: Neuronal diseases

Aliases & Classifications for Neuroaxonal Dystrophy

MalaCards integrated aliases for Neuroaxonal Dystrophy:

Name: Neuroaxonal Dystrophy 12 15
Neuroaxonal Dystrophies 56 45 74

Classifications:



External Ids:

Disease Ontology 12 DOID:2367
MeSH 45 D019150
UMLS 74 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 NALCN (Sodium Leak Channel, Non-Selective), and among its related pathways/superpathways are Neuroscience and MECP2 and Associated Rett Syndrome. The drugs Desipramine and Antidepressive Agents, Tricyclic have been mentioned in the context of this disorder. Affiliated tissues include brain, skin and liver, 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 73)
# Related Disease Score Top Affiliating Genes
1 neurodegeneration with brain iron accumulation 2a 33.9 NAGA PANK2 PLA2G6
2 neurodegeneration with brain iron accumulation 2b 32.9 PANK2 PLA2G6
3 neurodegeneration with brain iron accumulation 1 32.8 PANK2 PLA2G6
4 traumatic brain injury 29.8 ENO2 IGF1 MBP
5 brain injury 29.8 ENO2 IGF1 MBP
6 osteopetrosis and infantile neuroaxonal dystrophy 12.3
7 neuroaxonal dystrophy renal tubular acidosis 12.3
8 schindler disease, type i 12.1
9 schindler disease 11.5
10 hypotonia, infantile, with psychomotor retardation and characteristic facies 1 11.5
11 hunter carpenter macdonald syndrome 11.5
12 bile acid synthesis defect, congenital, 1 11.2
13 kanzaki disease 11.2
14 karak syndrome 11.2
15 dementia 10.3
16 dystonia 10.3
17 neurodegeneration with brain iron accumulation 10.2 PANK2 PLA2G6
18 finger agnosia 10.2 ENO2 MBP
19 neurodegeneration with brain iron accumulation 4 10.2 PANK2 PLA2G6
20 neonatal hypoxic and ischemic brain injury 10.2 ENO2 MBP
21 neurodegeneration with brain iron accumulation 5 10.2 PANK2 PLA2G6
22 parkinson disease 15, autosomal recessive early-onset 10.2 PANK2 PLA2G6
23 kufor-rakeb syndrome 10.2 PANK2 PLA2G6
24 neurodegeneration with brain iron accumulation 3 10.2 PANK2 PLA2G6
25 mannosidosis, beta a, lysosomal 10.2 MBP NAGA
26 giant axonal neuropathy 1, autosomal recessive 10.1
27 aging 10.1
28 neuronal ceroid lipofuscinosis 10.1
29 axonal neuropathy 10.1
30 neuropathy 10.1
31 giant axonal neuropathy 10.1
32 cerebellar degeneration 10.1
33 spastic paraparesis 10.1
34 krabbe disease 10.1 MBP PLA2G6
35 juvenile pilocytic astrocytoma 10.1 ENO2 MBP
36 carcinoid syndrome 10.0 ENO2 IGF1
37 leukodystrophy, hypomyelinating, 2 10.0 MBP PANK2
38 optic nerve glioma 10.0 ENO2 MBP
39 alzheimer disease 10.0
40 amyotrophic lateral sclerosis 1 10.0
41 creutzfeldt-jakob disease 10.0
42 myelopathy, htlv-1-associated 10.0
43 fetal akinesia deformation sequence 1 10.0
44 cerebellar hypoplasia 10.0
45 niemann-pick disease, type c1 10.0
46 ataxia and polyneuropathy, adult-onset 10.0
47 hereditary spastic paraplegia 10.0
48 niemann-pick disease 10.0
49 osteopetrosis 10.0
50 renal tubular acidosis 10.0

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:

27 (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-11 9.66 BCS1L
3 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.66 IGF1 PLA2G6
4 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.66 BCS1L
5 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.66 IGF1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.66 BCS1L IGF1 PLA2G6
7 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.66 IGF1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.66 IGF1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.66 IGF1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.66 PLA2G6
11 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.66 IGF1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.66 IGF1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.66 IGF1 PLA2G6
14 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.66 BCS1L
15 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.66 BCS1L PLA2G6
16 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.66 PLA2G6
17 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.66 IGF1

MGI Mouse Phenotypes related to Neuroaxonal Dystrophy:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.97 BCS1L ENO2 GAD1 GAN MBP NALCN
2 cellular MP:0005384 9.92 BCS1L ENO2 GAD1 GAN IGF1 MBP
3 growth/size/body region MP:0005378 9.86 BCS1L ENO2 GAD1 GAN IGF1 MBP
4 homeostasis/metabolism MP:0005376 9.76 BCS1L GAD1 IGF1 MBP NAGA NALCN
5 mortality/aging MP:0010768 9.56 BCS1L GAD1 GAN IGF1 MBP NALCN
6 nervous system MP:0003631 9.23 ENO2 GAD1 GAN IGF1 MBP NALCN

Drugs & Therapeutics for Neuroaxonal Dystrophy

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

(show all 22)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Desipramine Approved, Investigational Phase 4 50-47-5 2995
2 Antidepressive Agents, Tricyclic Phase 4
3 Neurotransmitter Uptake Inhibitors Phase 4
4 Psychotropic Drugs Phase 4
5 Neurotransmitter Agents Phase 4
6 Antidepressive Agents Phase 4
7 Adrenergic Agents Phase 4
8
Deferiprone Approved Phase 3,Phase 2 30652-11-0 2972
9
Iron Approved, Experimental Phase 3,Phase 2 7439-89-6, 15438-31-0 27284 23925
10
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
11
Pantothenic acid Approved, Nutraceutical, Vet_approved Phase 3 79-83-4 6613
12 Chelating Agents Phase 3,Phase 2
13 Iron Chelating Agents Phase 3,Phase 2
14 Pharmaceutical Solutions Phase 3,Phase 2
15 Micronutrients Phase 3,Phase 2
16 Nutrients Phase 3,Phase 2
17 Trace Elements Phase 3,Phase 2
18 Vitamin B Complex Phase 3
19 Vitamin B9 Phase 3
20 Folate Phase 3
21 Vitamins Phase 3
22 Linoleate Phase 2, Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Desipramine in Infantile Neuroaxonal Dystrophy (INAD). Enrolling by invitation NCT03726996 Phase 4 Desipramine
2 Long-term Deferiprone Treatment in Patients With Pantothenate Kinase-Associated Neurodegeneration Completed NCT02174848 Phase 3 Deferiprone oral solution;Deferiprone
3 Efficacy and Safety Study of Deferiprone in Patients With Pantothenate Kinase-associated Neurodegeneration (PKAN) Completed NCT01741532 Phase 3 Deferiprone oral solution;Placebo
4 Efficacy and Safety Study of Fosmetpantotenate (RE-024) in PKAN Patients Active, not recruiting NCT03041116 Phase 3 fosmetpantotenate (RE-024);Placebo
5 A Study to Assess Efficacy and Safety of RT001 in Subjects With Infantile Neuroaxonal Dystrophy Enrolling by invitation NCT03570931 Phase 2, Phase 3 RT001
6 Ferrochelating Treatment in Patients Affected by Neurodegeneration With Brain Iron Accumulation (NBIA) Unknown status NCT00907283 Phase 2 Deferiprone
7 Brain Perfusion in Pantothenate Kinase-associated Neurodegeneration (PKAN) Completed NCT01838018
8 NBIAready: Online Collection of Natural History Patient-reported Outcome Measures Recruiting NCT02587858
9 Compassionate Use of Deferiprone in Patients With PKAN Available NCT02635841 Deferiprone
10 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:

42
Brain, Skin, Liver, Skeletal Muscle, Cortex, Retina, Pancreatic Islet

Publications for Neuroaxonal Dystrophy

Articles related to Neuroaxonal Dystrophy:

(show top 50) (show all 234)
# Title Authors Year
1
[PLA2G6 compound complicated mutation in an atypical neuroaxonal dystrophy pedigree]. ( 30772976 )
2019
2
Corrigendum to "A new PLA2G6 mutation in a family with infantile neuroaxonal dystrophy" [J. Neurol. Sci. 381C (2017) 209-212]. ( 29254810 )
2018
3
Spastic paraparesis with basal ganglia changes: Infantile neuroaxonal dystrophy. ( 29323006 )
2018
4
Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family. ( 29739362 )
2018
5
A Missense Mutation in the Vacuolar Protein Sorting 11 (VPS11) Gene Is Associated with Neuroaxonal Dystrophy in Rottweiler Dogs. ( 29945969 )
2018
6
R106C TFG variant causes infantile neuroaxonal dystrophy "plus" syndrome. ( 29971521 )
2018
7
Infantile neuroaxonal dystrophy caused by PLA2G6 gene mutation in a Chinese patient: A case report. ( 30112060 )
2018
8
Lipid peroxidation biomarkers for evaluating oxidative stress in equine neuroaxonal dystrophy. ( 30133798 )
2018
9
Infantile Neuroaxonal Dystrophy: Diagnosis and Possible Treatments. ( 30619446 )
2018
10
PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia. ( 28295203 )
2017
11
Infantile neuroaxonal dystrophy and PLA2G6-associated neurodegeneration: An update for the diagnosis. ( 27884548 )
2017
12
Identification of the PLA2G6 c.1579G>A Missense Mutation in Papillon Dog Neuroaxonal Dystrophy Using Whole Exome Sequencing Analysis. ( 28107443 )
2017
13
Perioperative considerations in infantile neuroaxonal dystrophy. ( 28177173 )
2017
14
Neurons and astrocytes in an infantile neuroaxonal dystrophy (INAD) mouse model show characteristic alterations in glutamate-induced Ca2+ signaling. ( 28279750 )
2017
15
Neuroaxonal Dystrophy in a Flock of Pied Imperial Pigeons (Ducula bicolor). ( 28391972 )
2017
16
Neuroaxonal Dystrophy and Cavitating Leukoencephalopathy of Chihuahua Dogs. ( 28578630 )
2017
17
Axonal spheroids in ovine neuroaxonal dystrophy are immunopositive to kinesin and dynein. ( 28754069 )
2017
18
Primary, congenital neuroaxonal dystrophy with peripheral nerve demyelination in Merino-Border Leicester × Polled Dorset lambs. ( 28901548 )
2017
19
A new PLA2G6 mutation in a family with infantile neuroaxonal dystrophy. ( 28991683 )
2017
20
Ultrastructural features of canine neuroaxonal dystrophy in a Papillon dog. ( 28993562 )
2017
21
Genetic Analysis of PLA2G6 in 22 Indian Families with Infantile Neuroaxonal Dystrophy, Atypical Late-Onset Neuroaxonal Dystrophy and Dystonia Parkinsonism Complex. ( 27196560 )
2016
22
Pathological findings in a Dachshund-cross dog with neuroaxonal dystrophy. ( 27267214 )
2016
23
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
24
Reply: Glial mitochondropathy in infantile neuroaxonal dystrophy: pathophysiological and therapeutic implications. ( 27497489 )
2016
25
Glial mitochondropathy in infantile neuroaxonal dystrophy: pathophysiological and therapeutic implications. ( 27497490 )
2016
26
Validation of the finding of hypertrophy of the clava in infantile neuroaxonal dystrophy/PLA2G6 by biometric analysis. ( 27516098 )
2016
27
Transcriptome profiling of equine vitamin E deficient neuroaxonal dystrophy identifies upregulation of liver X receptor target genes. ( 27751910 )
2016
28
Monozygotic twins with infantile neuroaxonal dystrophy: A case report and literature review. ( 27882168 )
2016
29
Kept in Mind Infantile Neuroaxonal Dystrophy. ( 29485838 )
2016
30
Downbeat nystagmus as the presenting symptom of infantile neuroaxonal dystrophy: a case report. ( 24800972 )
2015
31
A case of infantile neuroaxonal dystrophy of neonatal onset. ( 24870368 )
2015
32
Neuroaxonal dystrophy in PLA2G6 knockout mice. ( 25950622 )
2015
33
Blood and Cerebrospinal Fluid α-Tocopherol and Selenium Concentrations in Neonatal Foals with Neuroaxonal Dystrophy. ( 26391904 )
2015
34
TECPR2 Associated Neuroaxonal Dystrophy in Spanish Water Dogs. ( 26555167 )
2015
35
Novel PLA2G6 mutations associated with an exonic deletion due to non-allelic homologous recombination in a patient with infantile neuroaxonal dystrophy. ( 27081553 )
2015
36
Infantile neuroaxonal dystrophy caused by uniparental disomy. ( 24628589 )
2014
37
Neuroaxonal dystrophy in Merino-Border Leicester × Polled Dorset lambs. ( 25123686 )
2014
38
Infantile neuroaxonal dystrophy: a rare cause of early childhood ataxia with poor prognosis. ( 23073992 )
2013
39
Pedigree analysis and exclusion of alpha-tocopherol transfer protein (TTPA) as a candidate gene for neuroaxonal dystrophy in the American Quarter Horse. ( 23186252 )
2013
40
Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism. ( 23749988 )
2013
41
Extensive aggregation of α-synuclein and tau in juvenile-onset neuroaxonal dystrophy: an autopsied individual with a novel mutation in the PLA2G6 gene-splicing site. ( 24252552 )
2013
42
Neuroaxonal dystrophy in Australian Merino lambs. ( 22055697 )
2012
43
Electrophysiological studies in American Quarter horses with neuroaxonal dystrophy. ( 22432889 )
2012
44
Severe disturbance in the Ca2+ signaling in astrocytes from mouse models of human infantile neuroaxonal dystrophy with mutated Pla2g6. ( 22442204 )
2012
45
A novel mitofusin 2 mutation causes canine fetal-onset neuroaxonal dystrophy. ( 21643798 )
2011
46
Neuroaxonal dystrophy in calcium-independent phospholipase A2β deficiency results from insufficient remodeling and degeneration of mitochondrial and presynaptic membranes. ( 21813701 )
2011
47
Evaluation of epidemiological, clinical, and pathological features of neuroaxonal dystrophy in Quarter Horses. ( 21916766 )
2011
48
MRI Findings in Patients with Clinical Onset Consistent with Infantile Neuroaxonal Dystrophy (INAD), Literature Review, Clinical and MRI Follow-up. ( 24059609 )
2011
49
Comparative study of cerebellar degeneration in canine neuroaxonal dystrophy, cerebellar cortical abiotrophy, and neuronal ceroid-lipofuscinosis. ( 20585192 )
2010
50
Inherited neuroaxonal dystrophy in dogs causing lethal, fetal-onset motor system dysfunction and cerebellar hypoplasia. ( 20653033 )
2010

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 11.67 ENO2 GAD1 MBP
2 10.42 GAD1 MBP

GO Terms for Neuroaxonal Dystrophy

Sources for Neuroaxonal Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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