MCID: NRX001
MIFTS: 32

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
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 NALCN (Sodium Leak Channel, Non-Selective), and among its related pathways/superpathways is HIF-1 signaling pathway. The drugs Desipramine and Antidepressive Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and liver, and related phenotypes are behavior/neurological and homeostasis/metabolism

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 68)
# Related Disease Score Top Affiliating Genes
1 neurodegeneration with brain iron accumulation 2a 33.4 PLA2G6 PANK2 NAGA FA2H
2 neurodegeneration with brain iron accumulation 2b 32.4 PLA2G6 PANK2 FA2H
3 neurodegeneration with brain iron accumulation 1 32.4 PLA2G6 PANK2 FA2H
4 dystonia 30.1 PLA2G6 PANK2 FA2H
5 traumatic brain injury 29.6 MBP IGF1 ENO2
6 brain injury 29.6 MBP IGF1 ENO2
7 osteopetrosis and infantile neuroaxonal dystrophy 12.2
8 neuroaxonal dystrophy renal tubular acidosis 12.2
9 schindler disease, type i 11.9
10 schindler disease 11.5
11 hunter carpenter macdonald syndrome 11.5
12 bile acid synthesis defect, congenital, 1 11.2
13 kanzaki disease 11.2
14 hypotonia, infantile, with psychomotor retardation and characteristic facies 1 11.2
15 synucleinopathy 11.2
16 karak syndrome 11.1
17 dementia 10.3
18 giant axonal neuropathy 1, autosomal recessive 10.1
19 aging 10.1
20 neuronal ceroid lipofuscinosis 10.1
21 axonal neuropathy 10.1
22 neuropathy 10.1
23 giant axonal neuropathy 10.1
24 cerebellar degeneration 10.1
25 spastic paraparesis 10.1
26 krabbe disease 10.0 PLA2G6 MBP
27 finger agnosia 10.0 MBP ENO2
28 mannosidosis, beta a, lysosomal 10.0 NAGA MBP
29 neonatal hypoxic and ischemic brain injury 10.0 MBP ENO2
30 neurodegeneration with brain iron accumulation 4 10.0 PLA2G6 PANK2
31 neurodegeneration with brain iron accumulation 5 10.0 PLA2G6 PANK2
32 parkinson disease 15, autosomal recessive early-onset 10.0 PLA2G6 PANK2
33 kufor-rakeb syndrome 10.0 PLA2G6 PANK2
34 neurodegeneration with brain iron accumulation 6 10.0 PLA2G6 PANK2
35 juvenile pilocytic astrocytoma 10.0 MBP ENO2
36 alzheimer disease 10.0
37 amyotrophic lateral sclerosis 1 10.0
38 creutzfeldt-jakob disease 10.0
39 myelopathy, htlv-1-associated 10.0
40 fetal akinesia deformation sequence 10.0
41 cerebellar hypoplasia 10.0
42 hereditary spastic paraplegia 10.0
43 niemann-pick disease 10.0
44 osteopetrosis 10.0
45 renal tubular acidosis 10.0
46 biliary atresia 10.0
47 polyneuropathy 10.0
48 epilepsy 10.0
49 lateral sclerosis 10.0
50 tropical spastic paraparesis 10.0

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 9.63 ENO2 FA2H MBP NALCN PANK2 PLA2G6
2 homeostasis/metabolism MP:0005376 9.5 FA2H IGF1 MBP NAGA NALCN PANK2
3 nervous system MP:0003631 9.17 ENO2 FA2H IGF1 MBP NALCN PANK2

Drugs & Therapeutics for Neuroaxonal Dystrophy

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

(show all 15)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Desipramine Approved, Investigational Phase 4 50-47-5 2995
2 Antidepressive Agents Phase 4
3 Neurotransmitter Uptake Inhibitors Phase 4
4 Psychotropic Drugs Phase 4
5 Neurotransmitter Agents Phase 4
6 Adrenergic Agents Phase 4
7 Antidepressive Agents, Tricyclic Phase 4
8
Deferiprone Approved Phase 3,Phase 2 30652-11-0 2972
9
Iron Approved Phase 3,Phase 2 7439-89-6 23925
10 Pharmaceutical Solutions Phase 3,Phase 2
11 Chelating Agents Phase 3,Phase 2
12 Iron Chelating Agents Phase 3,Phase 2
13 Linoleate Phase 2, Phase 3
14 Trace Elements Phase 2
15 Micronutrients Phase 2

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 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
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:

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

Publications for Neuroaxonal Dystrophy

Articles related to Neuroaxonal Dystrophy:

(show top 50) (show all 233)
# 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
Corrigendum to "A new PLA2G6 mutation in a family with infantile neuroaxonal dystrophy" [J. Neurol. Sci. 381C (2017) 209-212]. ( 29254810 )
2018
4
Spastic paraparesis with basal ganglia changes: Infantile neuroaxonal dystrophy. ( 29323006 )
2018
5
A Missense Mutation in the Vacuolar Protein Sorting 11 (<i>VPS11</i>) Gene Is Associated with Neuroaxonal Dystrophy in Rottweiler Dogs. ( 29945969 )
2018
6
Infantile neuroaxonal dystrophy caused by PLA2G6 gene mutation in a Chinese patient: A case report. ( 30112060 )
2018
7
Lipid peroxidation biomarkers for evaluating oxidative stress in equine neuroaxonal dystrophy. ( 30133798 )
2018
8
Neuroaxonal Dystrophy and Cavitating Leukoencephalopathy of Chihuahua Dogs. ( 28578630 )
2017
9
Perioperative considerations in infantile neuroaxonal dystrophy. ( 28177173 )
2017
10
A new PLA2G6 mutation in a family with infantile neuroaxonal dystrophy. ( 28991683 )
2017
11
Identification of the PLA2G6 c.1579G&amp;gt;A Missense Mutation in Papillon Dog Neuroaxonal Dystrophy Using Whole Exome Sequencing Analysis. ( 28107443 )
2017
12
PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia. ( 28295203 )
2017
13
Infantile neuroaxonal dystrophy and PLA2G6-associated neurodegeneration: An update for the diagnosis. ( 27884548 )
2017
14
Axonal spheroids in ovine neuroaxonal dystrophy are immunopositive to kinesin and dynein. ( 28754069 )
2017
15
Neuroaxonal Dystrophy in a Flock of Pied Imperial Pigeons (Ducula bicolor). ( 28391972 )
2017
16
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
17
Ultrastructural features of canine neuroaxonal dystrophy in a Papillon dog. ( 28993562 )
2017
18
Primary, congenital neuroaxonal dystrophy with peripheral nerve demyelination in Merino-Border Leicester A9 Polled Dorset lambs. ( 28901548 )
2017
19
Neurons and astrocytes in an infantile neuroaxonal dystrophy (INAD) mouse model show characteristic alterations in glutamate-induced Ca2+ signaling. ( 28279750 )
2017
20
Reply: Glial mitochondropathy in infantile neuroaxonal dystrophy: pathophysiological and therapeutic implications. ( 27497489 )
2016
21
Validation of the finding of hypertrophy of the clava in infantile neuroaxonal dystrophy/PLA2G6 by biometric analysis. ( 27516098 )
2016
22
Transcriptome profiling of equine vitamin E deficient neuroaxonal dystrophy identifies upregulation of liver X receptor target genes. ( 27751910 )
2016
23
Genetic Analysis of PLA2G6 in 22 Indian Families with Infantile Neuroaxonal Dystrophy, Atypical Late-Onset Neuroaxonal Dystrophy and Dystonia Parkinsonism Complex. ( 27196560 )
2016
24
Monozygotic twins with infantile neuroaxonal dystrophy: A case report and literature review. ( 27882168 )
2016
25
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
26
Glial mitochondropathy in infantile neuroaxonal dystrophy: pathophysiological and therapeutic implications. ( 27497490 )
2016
27
Pathological findings in a Dachshund-cross dog with neuroaxonal dystrophy. ( 27267214 )
2016
28
Kept in Mind Infantile Neuroaxonal Dystrophy. ( 29485838 )
2016
29
TECPR2 Associated Neuroaxonal Dystrophy in Spanish Water Dogs. ( 26555167 )
2015
30
Novel PLA2G6 mutations associated with an exonic deletion due to non-allelic homologous recombination in a patient with infantile neuroaxonal dystrophy. ( 27081553 )
2015
31
Neuroaxonal dystrophy in PLA2G6 knockout mice. ( 25950622 )
2015
32
Blood and Cerebrospinal Fluid I+-Tocopherol and Selenium Concentrations in Neonatal Foals with Neuroaxonal Dystrophy. ( 26391904 )
2015
33
Infantile neuroaxonal dystrophy caused by uniparental disomy. ( 24628589 )
2014
34
Neuroaxonal dystrophy in Merino-Border Leicester A9 Polled Dorset lambs. ( 25123686 )
2014
35
Downbeat nystagmus as the presenting symptom of infantile neuroaxonal dystrophy: A case report. ( 24800972 )
2014
36
A Case of Infantile Neuroaxonal Dystrophy of Neonatal Onset. ( 24870368 )
2014
37
Pedigree analysis and exclusion of alpha-tocopherol transfer protein (TTPA) as a candidate gene for neuroaxonal dystrophy in the American Quarter Horse. ( 23186252 )
2013
38
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
39
Infantile neuroaxonal dystrophy: a rare cause of early childhood ataxia with poor prognosis. ( 23073992 )
2013
40
Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism. ( 23749988 )
2013
41
Severe disturbance in the Ca2+ signaling in astrocytes from mouse models of human infantile neuroaxonal dystrophy with mutated Pla2g6. ( 22442204 )
2012
42
Neuroaxonal dystrophy in Australian Merino lambs. ( 22055697 )
2012
43
Electrophysiological studies in American Quarter horses with neuroaxonal dystrophy. ( 22432889 )
2012
44
Neuroaxonal dystrophy in calcium-independent phospholipase A2I^ deficiency results from insufficient remodeling and degeneration of mitochondrial and presynaptic membranes. ( 21813701 )
2011
45
Evaluation of epidemiological, clinical, and pathological features of neuroaxonal dystrophy in Quarter Horses. ( 21916766 )
2011
46
A novel mitofusin 2 mutation causes canine fetal-onset neuroaxonal dystrophy. ( 21643798 )
2011
47
MRI Findings in Patients with Clinical Onset Consistent with Infantile Neuroaxonal Dystrophy (INAD), Literature Review, Clinical and MRI Follow-up. ( 24059609 )
2011
48
Inherited neuroaxonal dystrophy in dogs causing lethal, fetal-onset motor system dysfunction and cerebellar hypoplasia. ( 20653033 )
2010
49
Comparative study of cerebellar degeneration in canine neuroaxonal dystrophy, cerebellar cortical abiotrophy, and neuronal ceroid-lipofuscinosis. ( 20585192 )
2010
50
Lysosomal compromise and brain dysfunction: examining the role of neuroaxonal dystrophy. ( 21118103 )
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 10.62 ENO2 IGF1

GO Terms for Neuroaxonal Dystrophy

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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