MCID: NRX001
MIFTS: 39

Neuroaxonal Dystrophy malady

Categories: Genetic diseases, Neuronal diseases, Blood diseases, Rare diseases

Aliases & Classifications for Neuroaxonal Dystrophy

About this section

Aliases & Descriptions for Neuroaxonal Dystrophy:

Name: Neuroaxonal Dystrophy 11 13
 
Neuroaxonal Dystrophies 49 38 67

Classifications:



External Ids:

Disease Ontology11 DOID:2367
SNOMED-CT61 230365004
MeSH38 D019150

Summaries for Neuroaxonal Dystrophy

About this section
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 Neurotrophic factor-mediated Trk receptor signaling and Neural Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include brain, skin and pineal, and related mouse phenotypes are muscle and reproductive system.

Related Diseases for Neuroaxonal Dystrophy

About this section

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 55)
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
7karak syndrome11.0
8hypotonia, infantile, with psychomotor retardation and characteristic facies10.9
9kanzaki disease10.9
10neurodegeneration with brain iron accumulation 2b10.9
11hunter carpenter macdonald syndrome10.9
12parkinson disease 14, autosomal recessive10.2NAGA, PLA2G6
13neuronitis10.2
14dementia10.1
15dystonia10.1
16nonsyndromic disorders of testicular development10.0PANK2, PLA2G6
17cerebritis10.0
18neuronal ceroid lipofuscinosis9.9
19axonal neuropathy9.9
20neuropathy9.9
21giant axonal neuropathy9.9
22cerebellar degeneration9.9
23ataxia9.9
24graves disease 19.8PLA2G6, SNCA
25epileptic hemiplegia9.8NTRK1, SNCA
26fetal akinesia deformation sequence9.8
27c6 deficiency9.8
28pick disease9.8
29creutzfeldt-jakob disease9.8
30cerebellar hypoplasia9.8
31brain injury9.8
32niemann-pick disease9.8
33osteopetrosis9.8
34renal tubular acidosis9.8
35traumatic brain injury9.8
36biliary atresia9.8
37polyneuropathy9.8
38epilepsy9.8
39lateral sclerosis9.8
40tropical spastic paraparesis9.8
41laryngitis9.8
42pancreatitis9.8
43acute hemorrhagic encephalitis9.8
44scrapie9.8
45encephalitis9.8
46diencephalic syndrome9.8
47spastic paraparesis9.8
48encephalopathy9.8
49spasticity9.8
50adult brain stem glioma9.7PANK2, SNCA

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



Diseases related to neuroaxonal dystrophy

Symptoms for Neuroaxonal Dystrophy

About this section

Drugs & Therapeutics for Neuroaxonal Dystrophy

About this section

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

(show all 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
IronapprovedPhase 3, Phase 211237439-89-623925
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 27793
4Iron Chelating AgentsPhase 3, Phase 2222
5Chelating AgentsPhase 3, Phase 21365
6Trace ElementsPhase 25802
7MicronutrientsPhase 25802

Interventional clinical trials:

idNameStatusNCT IDPhase
1A Two-arm Efficacy and Safety Study of Deferiprone in Patients With Pantothenate Kinase-associated Neurodegeneration (PKAN)Active, not recruitingNCT01741532Phase 3
2Long-term Deferiprone Treatment in Patients With Pantothenate Kinase-Associated NeurodegenerationEnrolling by invitationNCT02174848Phase 3
3Ferrochelating Treatment in Patients Affected by Neurodegeneration With Brain Iron Accumulation (NBIA)Active, not recruitingNCT00907283Phase 2
4NBIAready: Online Collection of Natural History Patient-reported Outcome MeasuresRecruitingNCT02587858
5Brain Perfusion in Pantothenate Kinase-associated Neurodegeneration (PKAN)RecruitingNCT01838018
6Compassionate 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

About this section

Anatomical Context for Neuroaxonal Dystrophy

About this section

MalaCards organs/tissues related to Neuroaxonal Dystrophy:

35
Brain, Skin, Pineal, Pancreatic islet, Skeletal muscle, Cortex, Retina

Animal Models for Neuroaxonal Dystrophy or affiliated genes

About this section

MGI Mouse Phenotypes related to Neuroaxonal Dystrophy:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.0IGF1, NTF3, NTRK1, PANK2, PLA2G6
2MP:00053898.0IGF1, NTF3, PANK2, PLA2G6, SNCA
3MP:00053867.6NALCN, NTF3, NTRK1, PANK2, PLA2G6, SNCA
4MP:00053767.1IGF1, NAGA, NALCN, NTF3, PANK2, PLA2G6
5MP:00107687.0IGF1, NALCN, NTF3, NTRK1, PANK2, PLA2G6
6MP:00036317.0IGF1, NALCN, NTF3, NTRK1, PANK2, PLA2G6

Publications for Neuroaxonal Dystrophy

About this section

Articles related to Neuroaxonal Dystrophy:

(show top 50)    (show all 208)
idTitleAuthorsYear
1
Reply: Glial mitochondropathy in infantile neuroaxonal dystrophy: pathophysiological and therapeutic implications. (27497489)
2016
2
Infantile neuroaxonal dystrophy caused by uniparental disomy. (24628589)
2014
3
A Case of Infantile Neuroaxonal Dystrophy of Neonatal Onset. (24870368)
2014
4
Infantile neuroaxonal dystrophy: a rare cause of early childhood ataxia with poor prognosis. (23073992)
2013
5
Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism. (23749988)
2013
6
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
7
Neuroaxonal dystrophy in Australian Merino lambs. (22055697)
2012
8
Electrophysiological studies in American Quarter horses with neuroaxonal dystrophy. (22432889)
2012
9
Neuroaxonal dystrophy in calcium-independent phospholipase A2I^ deficiency results from insufficient remodeling and degeneration of mitochondrial and presynaptic membranes. (21813701)
2011
10
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
11
Clinical study and PLA2G6 mutation screening analysis in Chinese patients with infantile neuroaxonal dystrophy. (19138334)
2009
12
Disrupted membrane homeostasis and accumulation of ubiquitinated proteins in a mouse model of infantile neuroaxonal dystrophy caused by PLA2G6 mutations. (18202189)
2008
13
Cerebellar atrophy without cerebellar cortex hyperintensity in infantile neuroaxonal dystrophy (INAD) due to PLA2G6 mutation. (17254819)
2007
14
PLA2G6 mutation underlies infantile neuroaxonal dystrophy. (17033970)
2006
15
Juvenile neuroaxonal dystrophy in a Rottweiler: accumulation of synaptic proteins in dystrophic axons. (11699565)
2001
16
Etiology and pathophysiology of autistic behavior: clues from two cases with an unusual variant of neuroaxonal dystrophy. (11732766)
2001
17
Proton MR spectroscopy reveals lactate in infantile neuroaxonal dystrophy (INAD). (11414651)
2001
18
Infantile neuroaxonal dystrophy and giant axonal neuropathy--overlap diseases of neuronal cytoskeletal elements in childhood? (11048747)
2000
19
Alpha-synuclein immunoreactivity is present in axonal swellings in neuroaxonal dystrophy and acute traumatic brain injury. (10604751)
1999
20
Conjunctival biopsy in infantile neuroaxonal dystrophy. (9186140)
1997
21
Neuroaxonal dystrophy combined with diffuse Lewy body disease in a young adult. (8391956)
1993
22
Inherited neuroaxonal dystrophy in C6 deficient rabbits. (1517772)
1992
23
Terminal axon pathology in infantile neuroaxonal dystrophy. (2059251)
1991
24
Infantile neuroaxonal dystrophy: diagnosis by skin biopsy. (1659791)
1991
25
Schindler disease: the molecular lesion in the alpha-N- acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy. (2243144)
1990
26
Scrapie as a model for neuroaxonal dystrophy: ultrastructural studies. (2806455)
1989
27
Neuroaxonal dystrophy due to lysosomal alpha-N-acetylgalactosaminidase deficiency. (2733734)
1989
28
Neuroaxonal dystrophy: an ultrastructural link between subacute spongiform virus encephalopathies and Alzheimer's disease. (2690113)
1989
29
Neuronal lipidosis and neuroaxonal dystrophy in cerebro-hepato-renal (Zellweger) syndrome. (3618126)
1987
30
Pathology of skeletal muscle and intramuscular nerves in infantile neuroaxonal dystrophy. (3962588)
1986
31
Canine neuroaxonal dystrophy. (6842267)
1983
32
New enzymatic findings in infantile neuroaxonal dystrophy. (6410678)
1983
33
A sibship with neuroaxonal dystrophy and renal tubular acidosis: a new syndrome? (6881924)
1983
34
Neuroaxonal dystrophy in childhood. Report of two second cousins with Hallerworden-Spatz disease, and a case of Seitelberger's disease. (7158329)
1982
35
Familial neuroaxonal dystrophy with principal lesions of nigro-pallido-subthalamic degeneration. (6290357)
1982
36
Late infantile neuroaxonal dystrophy. An unusual case with predominantly myoclonic-epileptic symptomatology. (6789439)
1981
37
Neuroaxonal dystrophy in cerebral infarcts. (6156923)
1980
38
Infantile neuroaxonal dystrophy and giant axonal neuropathy: are they related? (575280)
1979
39
Reactive neuroaxonal dystrophy in children. Clinical pathological correlation. (676673)
1978
40
Infantile neuroaxonal dystrophy and related disorders. (80340)
1978
41
Diagnosis of infantile neuroaxonal dystrophy by conjunctival biopsy. (671062)
1978
42
Infantile neuroaxonal dystrophy. Ultrastructural study of peripheral nerve. (184642)
1976
43
Infantile neuroaxonal dystrophy (Seitelberger's disease). A light and ultrastructural study. (1138528)
1975
44
Feline hereditary neuroaxonal dystrophy. (4814900)
1974
45
Amyotrophic lateral sclerosis-dementia complex, neuroaxonal dystrophy, and Hallervorden-Spatz disease. (4734498)
1973
46
Seitelberger's infantile neuroaxonal dystrophy. A case report. (4712541)
1973
47
Hallervorden-Spatz disease and infantile neuroaxonal dystrophy. Ultrastructural observations, anatomical pathology and nosology. (4355342)
1973
48
Electron microscopical study of neuroaxonal dystrophy. Case report. (4330096)
1971
49
Nuclear, cytoplasmic and axoplasmic RNA in experimental neuroaxonal dystrophy. (4104930)
1971
50
Neuroaxonal dystrophy in man: character and natural history. (5562691)
1971

Variations for Neuroaxonal Dystrophy

About this section

Expression for genes affiliated with Neuroaxonal Dystrophy

About this section
Search GEO for disease gene expression data for Neuroaxonal Dystrophy.

Pathways for genes affiliated with Neuroaxonal Dystrophy

About this section

GO Terms for genes affiliated with Neuroaxonal Dystrophy

About this section

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of Ras protein signal transductionGO:00465799.6IGF1, NTRK1
2activation of protein kinase B activityGO:00321489.5IGF1, NTF3
3response to nicotineGO:00350949.3IGF1, NTRK1
4positive regulation of peptidyl-serine phosphorylationGO:00331389.2NTF3, SNCA
5response to activityGO:00148239.2IGF1, NTRK1
6memoryGO:00076139.1IGF1, PLA2G6
7negative regulation of neuron deathGO:19012159.1IGF1, NTRK1, SNCA
8agingGO:00075688.8IGF1, NTRK1, SNCA
9negative regulation of neuron apoptotic processGO:00435248.7NTF3, 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
2nerve growth factor bindingGO:00484068.8NTF3, NTRK1

Sources for Neuroaxonal Dystrophy

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet