MCID: NRX001
MIFTS: 46

Neuroaxonal Dystrophy malady

Neuronal category

Summaries for Neuroaxonal Dystrophy

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33MalaCards
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MalaCards: Neuroaxonal Dystrophy, also known as neuroaxonal dystrophies, is related to neuroaxonal dystrophy, infantile and giant axonal neuropathy. An important gene associated with Neuroaxonal Dystrophy is NAGA (N-acetylgalactosaminidase, alpha-), and among its related pathways are NGF-independant TRKA activation and TRKA activation by NGF. The compounds thioflavin and thioflavine s have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and cortex, and related mouse phenotypes are nervous system and vision/eye.

Aliases & Classifications for Neuroaxonal Dystrophy

Sources:
8Disease Ontology, 10DISEASES, 45Novoseek, 61UMLS, 35MeSH, 57SNOMED-CT
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal


Aliases & Descriptions:

neuroaxonal dystrophy 8 10
neuroaxonal dystrophies 45 61


External Ids:

Disease Ontology8 DOID:2367
SNOMED-CT57 230365004
MeSH35 D019150

Related Diseases for Neuroaxonal Dystrophy

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Neuroaxonal Dystrophy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 112)
idRelated DiseaseScoreTop Affiliating Genes
1neuroaxonal dystrophy, infantile31.6RPS27A, APP, NAGA
2giant axonal neuropathy30.3GAN
3pantothenate kinase-associated neurodegeneration30.3SNCA, PANK2
4niemann-pick disease30.1APP, SNCA
5down syndrome30.1SNCA, NTF3, APP
6amyotrophic lateral sclerosis30.1NGF, RPS27A, APP, IGF1, NTRK1, SNCA
7alzheimer's disease30.1NTRK1, PLA2G6, NGF, RPS27A, NTF3, SNCA
8n syndrome10.4
9neuroaxonal dystrophy renal tubular acidosis10.4
10infantile neuroaxonal dystrophy 110.4
11osteopetrosis and infantile neuroaxonal dystrophy10.3
12schindler disease10.3
13atypical neuroaxonal dystrophy10.3
14axonal neuropathy10.2
15schindler disease, type 110.2
16cerebellar degeneration10.2
17infantile axonal neuropathy10.2
18ataxia10.2
19tropical spastic paraparesis10.1
20lateral sclerosis10.1
21thalamic disease10.1
22biliary atresia10.1
23osteopetrosis10.1
24diabetic polyneuropathy10.1
25zellweger syndrome10.1
26scrapie10.1
27acute hemorrhagic encephalitis10.1
28renal tubular acidosis10.1
29autonomic nervous system disease10.1
30micro syndrome10.1
31niemann–pick disease10.1
32pla2g6-associated neurodegeneration10.1
33kanzaki disease10.1
34fetal akinesia deformation sequence10.1
35cerebellar hypoplasia10.1
36diencephalic syndrome10.1
37hunter carpenter macdonald syndrome10.1
38infantile parkinsonism-dystonia10.1
39niemann-pick disease type d10.1
40spastic paraparesis10.1
41infantile neuronal ceroid lipofuscinosis10.1
42brain injury10.1
43traumatic brain injury10.1
44prion disease10.0NTF3
45endometriosis10.0RPS27A
46peripheral neuropathy10.0NTRK1
47lewy body dementia10.0SNCA
48dysautonomia10.0SNCA
49diabetic autonomic neuropathy10.0NGF
50arthritis10.0PLA2G6

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



Diseases related to neuroaxonal dystrophy

Clinical Features for Neuroaxonal Dystrophy

Drugs & Therapeutics for Neuroaxonal Dystrophy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Neuroaxonal Dystrophy

Drug clinical trials:

Search ClinicalTrials for Neuroaxonal Dystrophy

Search NIH Clinical Center for Neuroaxonal Dystrophy

Search CenterWatch for Neuroaxonal Dystrophy

Genetic Tests for Neuroaxonal Dystrophy

Anatomical Context for Neuroaxonal Dystrophy

Sources:
33MalaCards
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MalaCards organs/tissues related to Neuroaxonal Dystrophy:

33
Skin, Brain, Cortex, Retina, Skeletal muscle, Fetal brain, Subthalamic nucleus, Pancreatic islet, Pineal

Animal Models for Neuroaxonal Dystrophy or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Neuroaxonal Dystrophy

Sources:
51PubMed
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Articles related to Neuroaxonal Dystrophy:

(show top 50)    (show all 195)
idTitleAuthorsYear
1
Infantile neuroaxonal dystrophy: a rare cause of early childhood ataxia with poor prognosis. (23073992)
2013
2
Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism. (23749988)
2013
3
Electrophysiological studies in American Quarter horses with neuroaxonal dystrophy. (22432889)
2012
4
Inherited neuroaxonal dystrophy in dogs causing lethal, fetal-onset motor system dysfunction and cerebellar hypoplasia. (20653033)
2010
5
Expression of PLA2G6 in human fetal development: Implications for infantile neuroaxonal dystrophy. (20813170)
2010
6
Immunohistochemical features of dystrophic axons in Papillon dogs with neuroaxonal dystrophy. (19176506)
2009
7
Neuroaxonal dystrophy caused by group VIA phospholipase A2 deficiency in mice: a model of human neurodegenerative disease. (18305254)
2008
8
Sympathetic neuroaxonal dystrophy in the aged rat pineal gland. (16202480)
2006
9
A new mouse model for infantile neuroaxonal dystrophy, inad mouse, maps to mouse chromosome 1. (15859351)
2005
10
Proton MR spectroscopy reveals lactate in infantile neuroaxonal dystrophy (INAD). (11414651)
2001
11
Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: no association with neuroaxonal dystrophy? (11313741)
2001
12
Infantile neuroaxonal dystrophy and giant axonal neuropathy--overlap diseases of neuronal cytoskeletal elements in childhood? (11048747)
2000
13
GABAergic neuroaxonal dystrophy and other cytopathological alterations in feline Niemann-Pick disease type C. (9255392)
1997
14
Effect of chronic autoimmune nerve growth factor deprivation on sympathetic neuroaxonal dystrophy in rats. (7570357)
1995
15
Neuroaxonal dystrophy in a litter of papillon pups. (8583759)
1995
16
Neuroaxonal dystrophy at birth with hypertonicity and basal ganglia mineralization. (8151089)
1994
17
Ictal video-EEG analysis of infantile neuroaxonal dystrophy. (8082629)
1994
18
Neuroaxonal dystrophy in a Jack Russell terrier pup resembling human infantile neuroaxonal dystrophy. (8467699)
1993
19
Neuroaxonal dystrophy in a group of related cats. (8286459)
1993
20
Terminal axon pathology in infantile neuroaxonal dystrophy. (2059251)
1991
21
Schindler disease: an inherited neuroaxonal dystrophy due to alpha-N-acetylgalactosaminidase deficiency. (2122121)
1990
22
Neuroaxonal dystrophy in aging human sympathetic ganglia. (1694057)
1990
23
Neuroaxonal dystrophy in distal symmetric sensory polyneuropathy of the diabetic BB-rat. (2533212)
1989
24
Is conjunctival biopsy useful for diagnosis of neuroaxonal dystrophy? (2486065)
1989
25
The effect of pancreatic islet transplantation and insulin therapy on neuroaxonal dystrophy in sympathetic autonomic ganglia of chronic streptozocin-diabetic rats. (2510903)
1989
26
Ovine neuroaxonal dystrophy in New Zealand. (16031422)
1988
27
Ultrastructural muscle pathology in infantile neuroaxonal dystrophy. (3239699)
1988
28
Neuronal lipidosis and neuroaxonal dystrophy in cerebro-hepato-renal (Zellweger) syndrome. (3618126)
1987
29
Diagnostic difficulties in infantile neuroaxonal dystrophy. A clinicopathological study of eight cases. (3683759)
1987
30
Spinal neuroaxonal dystrophy and angioneuromatosis. (3111160)
1987
31
Pathology of skeletal muscle and intramuscular nerves in infantile neuroaxonal dystrophy. (3962588)
1986
32
Histological and ultrastructural features of dystrophic isocortical axons in infantile neuroaxonal dystrophy (Seitelberger's disease). (4013671)
1985
33
Neuroaxonal dystrophy of the accessory cuneate nucleus in horses. (6464300)
1984
34
Suspected inherited cerebellar neuroaxonal dystrophy in collie sheep dogs. (16030883)
1982
35
Reactive neuroaxonal dystrophy in children. Clinical pathological correlation. (676673)
1978
36
Infantile neuroaxonal dystrophy. Schwann cell inclusion in the peripheral nerve. (206093)
1978
37
Cerebral cortical isolation in infantile neuroaxonal dystrophy. (69528)
1977
38
Infantile neuroaxonal dystrophy. Histological and electron microscopical study of two cases. (4446941)
1974
39
Amyotrophic lateral sclerosis-dementia complex, neuroaxonal dystrophy, and Hallervorden-Spatz disease. (4734498)
1973
40
Seitelberger's infantile neuroaxonal dystrophy. A case report. (4712541)
1973
41
Neuroaxonal dystrophy in subacute dementia. Case report. (4637008)
1972
42
Neuroaxonal dystrophy. A case of non pigmented type and protracted course. (5056009)
1972
43
Nuclear, cytoplasmic and axoplasmic RNA in experimental neuroaxonal dystrophy. (4104930)
1971
44
Neuroaxonal dystrophy in man: character and natural history. (5562691)
1971
45
Infantile neuroaxonal dystrophy or Seitelberger's disease. II. Peripheral nerve involvement: electron microscopic study in one case. (4327376)
1971
46
Neuroaxonal dystrophy. A case of delayed onset and protracted course. (5555207)
1971
47
Peripheral nerve biopsy as an aid to diagnosis in infantile neuroaxonal dystrophy. (5528549)
1970
48
Electron microscopic observations in infantile neuroaxonal dystrophy. Report of a cortical biopsy and review of the recent literature. (4179165)
1969
49
Infantile neuroaxonal dystrophy with neonatal onset. Neuropathologic and electron microscopic observations. (5646198)
1968
50
Neuroaxonal dystrophy in congenital biliary atresia. (5949875)
1966

Genetic Variations for Neuroaxonal Dystrophy

Expression for genes affiliated with Neuroaxonal Dystrophy

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Neuroaxonal Dystrophy

Search GEO for disease gene expression data for Neuroaxonal Dystrophy.

Pathways for genes affiliated with Neuroaxonal Dystrophy

Sources:
54Reactome, 38NCBI BioSystems Database, 52QIAGEN, 12EMD Millipore, 4Cell Signaling Technology, 30KEGG
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Compounds for genes affiliated with Neuroaxonal Dystrophy

Sources:
45Novoseek, 50PharmGKB, 29IUPHAR, 11DrugBank, 24HMDB, 60Tocris Bioscience, 2BitterDB
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Compounds related to Neuroaxonal Dystrophy according to GeneCards/GeneDecks:

(show top 50)    (show all 105)
idCompoundScoreTop Affiliating Genes
1thioflavin4510.2APP, SNCA
2thioflavine s4510.1RPS27A, APP, SNCA
3cipa4510.1NTRK1, NGF
4serine4510.0PLA2G6, SNCA, APP
5propentofylline4510.0APP, NTRK1, NGF
6formate4510.0RPS27A, APP, SNCA
7k252a459.9NTRK1, NTF3, NGF
8ag 879459.9NTRK1, NGF
9gnrh459.8NTRK1, PLA2G6, GRP
106-hydroxydopamine459.8NGF, SNCA, APP, RPS27A
11dexamethasone45 50 29 1112.8APP, GRP, PLA2G6
12lactacystin459.7SNCA, APP, NGF, RPS27A
13ganglioside459.7APP, NTF3, NGF, NTRK1
14levodopa45 1110.5NGF, RPS27A, IGF1, SNCA
15propranolol45 29 50 11 2413.5PLA2G6, NGF, APP, GRP
16valine459.5RPS27A, APP, SNCA, NGF
17atropine45 29 1111.5APP, SNCA, NGF, GRP
18gf 109203x45 6010.5APP, GRP, PLA2G6, NGF
19pantothenate459.4PANK2, PANK1
20glycerol45 11 2411.4PLA2G6, RPS27A, NAGA, NGF
21nmda45 2910.3GRP, RPS27A, APP, NTF3, NGF
22nicotine45 50 29 1112.3GRP, NTF3, NGF, APP
23thapsigargin45 6010.3NGF, GRP, APP, PLA2G6
24cocaine45 1110.3GRP, NGF, NTF3, SNCA, PLA2G6
25carbachol45 29 1111.2NGF, NTF3, GRP, SNCA, APP
26valproate459.2IGF1, NTF3, APP
27iron45 2410.2SNCA, APP, PLA2G6, BCS1L, PANK2
28norepinephrine45 11 2411.2APP, SNCA, GRP, NTF3, NGF
29paraffin459.2SNCA, NTF3, NTRK1, GRP, RPS27A
30phosphatidylcholine459.1NGF, PLA2G6, SNCA, GRP
31rapamycin459.0NTF3, IGF1, RPS27A, GRP, SNCA
32aspirin45 50 29 2412.0PLA2G6, NGF, NTRK1, GRP, APP, RPS27A
33wortmannin458.9GRP, IGF1, NTF3, NTRK1, NGF
34glutamine458.8RPS27A, IGF1, NGF, GRP, APP, SNCA
35genistein45 29 60 2 11 2413.8NTF3, PLA2G6, NGF, GRP, IGF1, NTRK1
36cysteine458.6PANK2, PLA2G6, NGF, RPS27A, NTF3, NTRK1
37actinomycin d458.6RPS27A, APP, GRP, NTF3, IGF1, NGF
38phosphatidylinositol458.6NGF, IGF1, NTF3, NTRK1, PLA2G6, GRP
39cycloheximide458.6PLA2G6, IGF1, NTF3, NTRK1, GRP, RPS27A
40acetylcholine45 50 29 11 2412.5NGF, RPS27A, PLA2G6, NTF3, NTRK1, GRP
41vegf458.5APP, GRP, RPS27A, NTRK1, NTF3, IGF1
42adenylate458.5RPS27A, APP, PLA2G6, NGF, NTF3, NTRK1
43arginine458.3GRP, NGF, IGF1, NTF3, PLA2G6, RPS27A
44alanine458.3SNCA, GRP, NTRK1, NGF, APP, SORD
45retinoic acid45 249.3APP, NTF3, NGF, NTRK1, RPS27A, IGF1
46creatinine458.2RPS27A, NGF, SORD, IGF1, NTRK1, GRP
47choline45 11 2410.1SORD, SNCA, GRP, NTRK1, NTF3, NGF
48dopamine45 29 11 2411.0APP, SNCA, RPS27A, PLA2G6, GRP, NGF
49testosterone45 60 11 2410.9NGF, IGF1, NTRK1, GRP, SNCA, APP
50glutamate457.9PLA2G6, GRP, NGF, NTF3, NTRK1, APP

GO Terms for genes affiliated with Neuroaxonal Dystrophy

Sources:
16Gene Ontology
See all sources

Cellular components related to Neuroaxonal Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1axonGO:0304249.1SEMA6A, NTRK1, SNCA, APP

Biological processes related to Neuroaxonal Dystrophy according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1mechanoreceptor differentiationGO:04249010.1NTF3, NTRK1
2adult locomotory behaviorGO:0083449.8NGF, SNCA, APP
3transmembrane receptor protein tyrosine kinase signaling pathwayGO:0071699.8NTRK1, NTF3, NGF
4positive regulation of Ras protein signal transductionGO:0465799.6NTRK1, IGF1
5response to electrical stimulusGO:0516029.6NGF, NTRK1
6negative regulation of neuron apoptotic processGO:0435249.5NGF, NTF3, NTRK1, SNCA
7Ras protein signal transductionGO:0072659.5NTRK1, IGF1, NGF
8coenzyme biosynthetic processGO:0091089.5PANK1, PANK2
9phosphatidylinositol-mediated signalingGO:0480159.4NGF, IGF1, NTRK1
10coenzyme A biosynthetic processGO:0159379.4PANK1, PANK2
11pantothenate metabolic processGO:0159399.3PANK1, PANK2

Molecular functions related to Neuroaxonal Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nerve growth factor bindingGO:0484069.9NTF3, NTRK1
2pantothenate kinase activityGO:0045949.0PANK1, PANK2

Products for genes affiliated with Neuroaxonal Dystrophy

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  • Proteins
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Sources for Neuroaxonal Dystrophy

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet