MCID: NRX001
MIFTS: 38

Neuroaxonal Dystrophy malady

Categories: Neuronal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Neuroaxonal Dystrophy

Aliases & Descriptions 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 Iron and Deferiprone have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and skeletal muscle, 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 62)
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 karak syndrome 11.0
8 neurodegeneration with brain iron accumulation 2b 11.0
9 hypotonia, infantile, with psychomotor retardation and characteristic facies 10.9
10 kanzaki disease 10.9
11 hunter carpenter macdonald syndrome 10.9
12 neuronitis 10.2
13 glucose/galactose malabsorption 10.1 PANK2 PLA2G6
14 waldenstroem's macroglobulinemia 10.1 PANK2 PLA2G6
15 chondrodysplasia punctata, x-linked dominant 10.1 PANK2 PLA2G6
16 herpes simplex encephalitis 7 10.1 PANK2 PLA2G6
17 dystonia 10.0
18 dementia 10.0
19 pachyonychia congenita 1 10.0 PANK2 PLA2G6
20 cerebritis 10.0
21 thrombosis 10.0 PLA2G6 SNCA
22 hirschsprung disease 7 10.0 PANK2 PLA2G6
23 parkinson disease 14, autosomal recessive 10.0 NAGA PANK2 PLA2G6
24 neuronal ceroid lipofuscinosis 9.9
25 giant axonal neuropathy 9.9
26 cerebellar degeneration 9.9
27 ataxia 9.9
28 axonal neuropathy 9.9
29 spasticity 9.9
30 neuropathy 9.9
31 corneal endothelial dystrophy 2, autosomal recessive 9.9 PANK2 PLA2G6 SNCA
32 klippel-feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism 9.9 PANK2 PLA2G6 SNCA
33 hereditary spastic paraplegia 51 9.9 PANK2 PLA2G6 SNCA
34 dilated cardiomyopathy 9.8 NTF3 NTRK1
35 biliary atresia 9.7
36 zellweger syndrome 9.7
37 pick disease 9.7
38 polyneuropathy 9.7
39 encephalitis 9.7
40 creutzfeldt-jakob disease 9.7
41 epilepsy 9.7
42 lateral sclerosis 9.7
43 diencephalic syndrome 9.7
44 tropical spastic paraparesis 9.7
45 laryngitis 9.7
46 cerebellar hypoplasia 9.7
47 pancreatitis 9.7
48 brain injury 9.7
49 acute hemorrhagic encephalitis 9.7
50 spastic paraparesis 9.7

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 IGF1 PLA2G6
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 NTRK1 PLA2G6
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 9.87 IGF1 NAGA NALCN NTF3 PANK2 PLA2G6
2 behavior/neurological MP:0005386 9.85 NALCN NTF3 NTRK1 PANK2 PLA2G6 SNCA
3 mortality/aging MP:0010768 9.8 SNCA IGF1 NALCN NTF3 NTRK1 PANK2
4 muscle MP:0005369 9.55 IGF1 NTF3 NTRK1 PANK2 PLA2G6
5 nervous system MP:0003631 9.5 IGF1 NALCN NTF3 NTRK1 PANK2 PLA2G6
6 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
Iron Approved Phase 3,Phase 2 7439-89-6 23925
2
Deferiprone Approved Phase 3,Phase 2 30652-11-0 2972
3 Chelating Agents Phase 3,Phase 2
4 Pharmaceutical Solutions Phase 3,Phase 2
5 Iron Chelating Agents Phase 3,Phase 2
6 Trace Elements Phase 2
7 Micronutrients Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase
1 A Two-arm Efficacy and Safety Study of Deferiprone in Patients With Pantothenate Kinase-associated Neurodegeneration (PKAN) Completed NCT01741532 Phase 3
2 Efficacy and Safety Study of Fosmetpantotenate (RE-024) in PKAN Patients Recruiting NCT03041116 Phase 3
3 Long-term Deferiprone Treatment in Patients With Pantothenate Kinase-Associated Neurodegeneration Active, not recruiting NCT02174848 Phase 3
4 Ferrochelating Treatment in Patients Affected by Neurodegeneration With Brain Iron Accumulation (NBIA) Active, not recruiting NCT00907283 Phase 2
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

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

Publications for Neuroaxonal Dystrophy

Articles related to Neuroaxonal Dystrophy:

(show top 50) (show all 209)
id Title Authors Year
1
PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia. ( 28295203 )
2017
2
Infantile neuroaxonal dystrophy and PLA2G6-associated neurodegeneration: An update for the diagnosis. ( 27884548 )
2017
3
Reply: Glial mitochondropathy in infantile neuroaxonal dystrophy: pathophysiological and therapeutic implications. ( 27497489 )
2016
4
Glial mitochondropathy in infantile neuroaxonal dystrophy: pathophysiological and therapeutic implications. ( 27497490 )
2016
5
Pathological findings in a Dachshund-cross dog with neuroaxonal dystrophy. ( 27267214 )
2016
6
Genetic Analysis of PLA2G6 in 22 Indian Families with Infantile Neuroaxonal Dystrophy, Atypical Late-Onset Neuroaxonal Dystrophy and Dystonia Parkinsonism Complex. ( 27196560 )
2016
7
Transcriptome profiling of equine vitamin E deficient neuroaxonal dystrophy identifies upregulation of liver X receptor target genes. ( 27751910 )
2016
8
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
9
Monozygotic twins with infantile neuroaxonal dystrophy: A case report and literature review. ( 27882168 )
2016
10
Novel PLA2G6 mutations associated with an exonic deletion due to non-allelic homologous recombination in a patient with infantile neuroaxonal dystrophy. ( 27081553 )
2015
11
Neuroaxonal dystrophy in PLA2G6 knockout mice. ( 25950622 )
2015
12
Blood and Cerebrospinal Fluid I+-Tocopherol and Selenium Concentrations in Neonatal Foals with Neuroaxonal Dystrophy. ( 26391904 )
2015
13
TECPR2 Associated Neuroaxonal Dystrophy in Spanish Water Dogs. ( 26555167 )
2015
14
A Case of Infantile Neuroaxonal Dystrophy of Neonatal Onset. ( 24870368 )
2014
15
Infantile neuroaxonal dystrophy caused by uniparental disomy. ( 24628589 )
2014
16
Downbeat nystagmus as the presenting symptom of infantile neuroaxonal dystrophy: A case report. ( 24800972 )
2014
17
Neuroaxonal dystrophy in Merino-Border Leicester A9 Polled Dorset lambs. ( 25123686 )
2014
18
Pedigree analysis and exclusion of alpha-tocopherol transfer protein (TTPA) as a candidate gene for neuroaxonal dystrophy in the American Quarter Horse. ( 23186252 )
2013
19
Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism. ( 23749988 )
2013
20
Infantile neuroaxonal dystrophy: a rare cause of early childhood ataxia with poor prognosis. ( 23073992 )
2013
21
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
22
Severe disturbance in the Ca2+ signaling in astrocytes from mouse models of human infantile neuroaxonal dystrophy with mutated Pla2g6. ( 22442204 )
2012
23
Electrophysiological studies in American Quarter horses with neuroaxonal dystrophy. ( 22432889 )
2012
24
Neuroaxonal dystrophy in Australian Merino lambs. ( 22055697 )
2012
25
A novel mitofusin 2 mutation causes canine fetal-onset neuroaxonal dystrophy. ( 21643798 )
2011
26
Evaluation of epidemiological, clinical, and pathological features of neuroaxonal dystrophy in Quarter Horses. ( 21916766 )
2011
27
MRI Findings in Patients with Clinical Onset Consistent with Infantile Neuroaxonal Dystrophy (INAD), Literature Review, Clinical and MRI Follow-up. ( 24059609 )
2011
28
Neuroaxonal dystrophy in calcium-independent phospholipase A2I^ deficiency results from insufficient remodeling and degeneration of mitochondrial and presynaptic membranes. ( 21813701 )
2011
29
Fetal akinesia deformation sequence and neuroaxonal dystrophy without PLA2G6 mutation. ( 20235854 )
2010
30
Catalytic function of PLA2G6 is impaired by mutations associated with infantile neuroaxonal dystrophy but not dystonia-parkinsonism. ( 20886109 )
2010
31
Comparative study of cerebellar degeneration in canine neuroaxonal dystrophy, cerebellar cortical abiotrophy, and neuronal ceroid-lipofuscinosis. ( 20585192 )
2010
32
Expression of PLA2G6 in human fetal development: Implications for infantile neuroaxonal dystrophy. ( 20813170 )
2010
33
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
34
Lysosomal compromise and brain dysfunction: examining the role of neuroaxonal dystrophy. ( 21118103 )
2010
35
Inherited neuroaxonal dystrophy in dogs causing lethal, fetal-onset motor system dysfunction and cerebellar hypoplasia. ( 20653033 )
2010
36
Clinical study and PLA2G6 mutation screening analysis in Chinese patients with infantile neuroaxonal dystrophy. ( 19138334 )
2009
37
Neuroaxonal dystrophy associated with cerebellar dysfunction in a 5-month-old Pony of the Americas colt. ( 19747195 )
2009
38
Immunohistochemical features of dystrophic axons in Papillon dogs with neuroaxonal dystrophy. ( 19176506 )
2009
39
Establishment of an improved mouse model for infantile neuroaxonal dystrophy that shows early disease onset and bears a point mutation in Pla2g6. ( 19893029 )
2009
40
A case of infantile neuroaxonal dystrophy: connatal Seitelberger disease. ( 18287574 )
2008
41
Synaptic ultrastructural alterations anticipate the development of neuroaxonal dystrophy in sympathetic ganglia of aged and diabetic mice. ( 19018240 )
2008
42
Autosomal dominant sensory ataxia: a neuroaxonal dystrophy. ( 18347805 )
2008
43
Infantile neuroaxonal dystrophy: what's most important for the diagnosis? ( 18359254 )
2008
44
Disrupted membrane homeostasis and accumulation of ubiquitinated proteins in a mouse model of infantile neuroaxonal dystrophy caused by PLA2G6 mutations. ( 18202189 )
2008
45
Neuroaxonal dystrophy caused by group VIA phospholipase A2 deficiency in mice: a model of human neurodegenerative disease. ( 18305254 )
2008
46
Neuroaxonal dystrophy in dogs: case report in 2 litters of Papillon puppies. ( 17552463 )
2007
47
Clinicopathological features of canine neuroaxonal dystrophy and cerebellar cortical abiotrophy in Papillon and Papillon-related dogs. ( 17984592 )
2007
48
Cerebellar atrophy without cerebellar cortex hyperintensity in infantile neuroaxonal dystrophy (INAD) due to PLA2G6 mutation. ( 17254819 )
2007
49
Magnetic resonance imaging findings of neuroaxonal dystrophy in a papillon puppy. ( 17543020 )
2007
50
Spontaneous murine neuroaxonal dystrophy: a model of infantile neuroaxonal dystrophy. ( 16542671 )
2006

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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