MCID: NRX001
MIFTS: 38

Neuroaxonal Dystrophy malady

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Neuroaxonal Dystrophy

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Aliases & Descriptions for Neuroaxonal Dystrophy:

Name: Neuroaxonal Dystrophy 11 13
 
Neuroaxonal Dystrophies 50 39 68

Classifications:



External Ids:

Disease Ontology11 DOID:2367
SNOMED-CT62 230365004
MeSH39 D019150

Summaries for Neuroaxonal Dystrophy

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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 are Neural Stem Cell Differentiation Pathways and Lineage-specific Markers and Neurotrophic factor-mediated Trk receptor signaling. Affiliated tissues include skin, brain and pineal, and related mouse phenotypes are Increased shRNA abundance (Z-score > 2) and reproductive system.

Related Diseases for Neuroaxonal Dystrophy

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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)
idRelated DiseaseScoreTop Affiliating Genes
1infantile neuroaxonal dystrophy 112.4
2neuroaxonal dystrophy renal tubular acidosis11.9
3osteopetrosis and infantile neuroaxonal dystrophy11.9
4schindler disease, type i11.6
5schindler disease11.4
6neurodegeneration with brain iron accumulation 111.0
7neurodegeneration with brain iron accumulation 2b11.0
8karak syndrome11.0
9hypotonia, infantile, with psychomotor retardation and characteristic facies10.9
10kanzaki disease10.9
11hunter carpenter macdonald syndrome10.9
12neuronitis10.2
13glucose/galactose malabsorption10.1PANK2, PLA2G6
14waldenstroem's macroglobulinemia10.1PANK2, PLA2G6
15chondrodysplasia punctata, x-linked dominant10.1PANK2, PLA2G6
16herpes simplex encephalitis 710.1PANK2, PLA2G6
17dementia10.0
18dystonia10.0
19pachyonychia congenita 110.0PANK2, PLA2G6
20cerebritis10.0
21hirschsprung disease 710.0PANK2, PLA2G6
22thrombosis10.0PLA2G6, SNCA
23parkinson disease 14, autosomal recessive10.0NAGA, PANK2, PLA2G6
24neuronal ceroid lipofuscinosis9.9
25axonal neuropathy9.9
26neuropathy9.9
27giant axonal neuropathy9.9
28cerebellar degeneration9.9
29ataxia9.9
30spasticity9.9
31corneal endothelial dystrophy 2, autosomal recessive9.9PANK2, PLA2G6, SNCA
32klippel-feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism9.9PANK2, PLA2G6, SNCA
33hereditary spastic paraplegia 519.9PANK2, PLA2G6, SNCA
34dilated cardiomyopathy9.8NTF3, NTRK1
35fetal akinesia deformation sequence9.7
36c6 deficiency9.7
37pick disease9.7
38creutzfeldt-jakob disease9.7
39cerebellar hypoplasia9.7
40brain injury9.7
41hereditary spastic paraplegia9.7
42niemann-pick disease9.7
43osteopetrosis9.7
44renal tubular acidosis9.7
45traumatic brain injury9.7
46biliary atresia9.7
47polyneuropathy9.7
48epilepsy9.7
49lateral sclerosis9.7
50tropical spastic paraparesis9.7

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



Diseases related to neuroaxonal dystrophy

Symptoms & Phenotypes for Neuroaxonal Dystrophy

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GenomeRNAi Phenotypes related to Neuroaxonal Dystrophy according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-1929.0IGF1, NTRK1, PLA2G6

MGI Mouse Phenotypes related to Neuroaxonal Dystrophy according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.1IGF1, NTF3, PANK2, PLA2G6, SNCA
2MP:00053697.9IGF1, NTF3, NTRK1, PANK2, PLA2G6
3MP:00053867.6NALCN, NTF3, NTRK1, PANK2, PLA2G6, SNCA
4MP:00053767.2IGF1, NAGA, NALCN, NTF3, PANK2, PLA2G6
5MP:00107686.9IGF1, NALCN, NTF3, NTRK1, PANK2, PLA2G6
6MP:00036316.9IGF1, NALCN, NTF3, NTRK1, PANK2, PLA2G6

Drugs & Therapeutics for Neuroaxonal Dystrophy

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

(show all 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
IronapprovedPhase 3, Phase 211657439-89-623925
Synonyms:
02583_FLUKA
12310_ALDRICH
12310_RIEDEL
129048-51-7
14067-02-8
161135-39-3
190454-13-8
195161-83-2
199281-22-6
209309_ALDRICH
209309_SIAL
255637_ALDRICH
266213_ALDRICH
266256_ALDRICH
267945_ALDRICH
267953_ALDRICH
26Fe
338141_ALDRICH
356808_ALDRICH
356824_ALDRICH
356832_ALDRICH
39344-71-3
3ZhP
413054_ALDRICH
443783-52-6
44890_ALDRICH
44890_FLUKA
675141-17-0
70884-35-4
73135-38-3
7439-89-6
8011-79-8
8053-60-9
AC1L2N38
ATW 230
ATW 432
Ancor B
Ancor en 80/150
Armco iron
Atomel 28
Atomel 300M200
Atomel 500M
Atomel 95
Atomiron 44MR
Atomiron 5M
Atomiron AFP 25
Atomiron AFP 5
C00023
C3518_SIAL
C3518_SIGMA
CCRIS 1580
CHEBI:18248
CID23925
Carbonyl iron
Copy Powder CS 105-175
D007501
DB01592
DSP 1000
DSP 128B
DSP 135
DSP 135C
DSP 138
Diseases (animal), iron overload
Diseases, iron overload
EF 1000
EF 250
EFV 200/300
EFV 250
EFV 250/400
EINECS 231-096-4
 
Ed-In-Sol
Eisen
Electrolytic iron
F 60 (metal)
FE
FT 3 (element)
Fe
Fe-40
Fe1+
Feronate
Ferretts
Ferro-Caps
Ferro-Time
Ferrousal
Ferrovac E
Ferrum
Ferrum metallicum
GS 6
HF 2 (element)
HL (iron)
HQ (metal)
HS (iron)
HS 4849
HSDB 604
Hemocyte
Hierro
Hoeganaes ATW 230
Hoeganaes EH
IRMM524A_FLUKA
IRMM524B_FLUKA
IRON
Iron (Fe)
Iron (Fe1+)
Iron ion (Fe+)
Iron ion(1+)
Iron monocation
Iron powder
Iron standard for AAS
Iron(1+)
Iron(1+) ion
Iron(III) nitrate solution
Iron, carbonyl
Iron, electrolytic
Iron, elemental
Iron, ion (Fe1+)
Iron, ion (Fe1+) (8CI,9CI)
Iron, reduced
LOHA
LS-3196
MolPort-003-925-001
NC 100
PZh-1M3
PZh-2
PZh1M1
PZh2M
PZh2M1
PZh2M2
PZh3
PZh3M
PZh4M
PZhO
Reduced iron
Remko
SUY-B 2
Siderol
UNII-E1UOL152H7
Vitedyn-Slo
Yieronia
fer
ferrous iron
hierro
2
DeferiproneapprovedPhase 3, Phase 25730652-11-02972
Synonyms:
1,2-Dimethyl-3-hydroxypyrid-4-one
3-Hydroxy-1,2-dimethyl-4(1H)-pyridone
APO-066
CP-20
DN-180-01-AF
Deferipron
 
Deferiprona
Deferiproni
Deferipronum
Deferypron
Dimethylhydroxypyridone
Défériprone
Ferriprox
PL-1
3Pharmaceutical SolutionsPhase 3, Phase 28192
4Iron Chelating AgentsPhase 3, Phase 2226
5Chelating AgentsPhase 3, Phase 21423
6Trace ElementsPhase 26001
7MicronutrientsPhase 26001

Interventional clinical trials:

idNameStatusNCT IDPhase
1A Two-arm Efficacy and Safety Study of Deferiprone in Patients With Pantothenate Kinase-associated Neurodegeneration (PKAN)CompletedNCT01741532Phase 3
2Efficacy and Safety Study of Fosmetpantotenate (RE-024) in PKAN PatientsRecruitingNCT03041116Phase 3
3Long-term Deferiprone Treatment in Patients With Pantothenate Kinase-Associated NeurodegenerationActive, not recruitingNCT02174848Phase 3
4Ferrochelating Treatment in Patients Affected by Neurodegeneration With Brain Iron Accumulation (NBIA)Active, not recruitingNCT00907283Phase 2
5NBIAready: Online Collection of Natural History Patient-reported Outcome MeasuresRecruitingNCT02587858
6Brain Perfusion in Pantothenate Kinase-associated Neurodegeneration (PKAN)RecruitingNCT01838018
7Compassionate Use of Deferiprone in Patients With PKANAvailableNCT02635841

Search NIH Clinical Center for Neuroaxonal Dystrophy


Cochrane evidence based reviews: neuroaxonal dystrophies

Genetic Tests for Neuroaxonal Dystrophy

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Anatomical Context for Neuroaxonal Dystrophy

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MalaCards organs/tissues related to Neuroaxonal Dystrophy:

36
Skin, Brain, Pineal, Pancreatic islet, Skeletal muscle, Cortex, Retina

Publications for Neuroaxonal Dystrophy

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Articles related to Neuroaxonal Dystrophy:

(show top 50)    (show all 209)
idTitleAuthorsYear
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

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Expression for genes affiliated with Neuroaxonal Dystrophy

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Search GEO for disease gene expression data for Neuroaxonal Dystrophy.

Pathways for genes affiliated with Neuroaxonal Dystrophy

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GO Terms for genes affiliated with Neuroaxonal Dystrophy

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

idNameGO IDScoreTop Affiliating Genes
1negative regulation of neuron deathGO:19012159.8NTRK1, SNCA
2activation of protein kinase B activityGO:00321489.7IGF1, NTF3
3positive regulation of Ras protein signal transductionGO:00465799.4IGF1, NTRK1
4positive regulation of peptidyl-serine phosphorylationGO:00331389.4NTF3, SNCA
5negative regulation of neuron apoptotic processGO:00435249.1NTF3, NTRK1, SNCA

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

idNameGO IDScoreTop Affiliating Genes
1neurotrophin p75 receptor bindingGO:00051669.1NTF3, NTRK1

Sources for Neuroaxonal Dystrophy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet