MCID: NRX001
MIFTS: 49

Neuroaxonal Dystrophy malady

Neuronal diseases category

Summaries for Neuroaxonal Dystrophy

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34MalaCards
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MalaCards: Neuroaxonal Dystrophy, also known as neuroaxonal dystrophies, is related to neuroaxonal dystrophy, infantile and pantothenate kinase-associated neurodegeneration. An important gene associated with Neuroaxonal Dystrophy is NAGA (N-acetylgalactosaminidase, alpha-), and among its related pathways are Pantothenate and CoA biosynthesis and Integrated Pancreatic Cancer Pathway. The compounds thioflavin and manoalide have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and skeletal muscle, and related mouse phenotypes are immune system and reproductive system.

Aliases & Classifications for Neuroaxonal Dystrophy

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9Disease Ontology, 11DISEASES, 46Novoseek, 63UMLS, 59SNOMED-CT, 36MeSH
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Classifications:

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


Aliases & Descriptions:

neuroaxonal dystrophy 9 11
neuroaxonal dystrophies 46 63


External Ids:

Disease Ontology9 DOID:2367
SNOMED-CT59 230365004
MeSH36 D019150

Related Diseases for Neuroaxonal Dystrophy

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18GeneCards, 19GeneDecks
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Diseases related to Neuroaxonal Dystrophy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 81)
idRelated DiseaseScoreTop Affiliating Genes
1neuroaxonal dystrophy, infantile31.3NAGA, RPS27A, APP
2pantothenate kinase-associated neurodegeneration30.7PANK2
3dementia30.6RPS27A, GRP, SNCA, APP
4giant axonal neuropathy30.5GAN
5niemann-pick disease30.2APP, SNCA
6creutzfeldt-jakob disease30.2RPS27A, SNCA, APP
7alzheimer's disease30.1APP, NTF3, SNCA, RPS27A, PLA2G6
8amyotrophic lateral sclerosis30.1IGF1, SNCA, APP, RPS27A
9neuronitis10.5
10infantile neuroaxonal dystrophy 110.5
11cerebritis10.3
12neuroaxonal dystrophy renal tubular acidosis10.3
13osteopetrosis and infantile neuroaxonal dystrophy10.3
14schindler disease10.3
15atypical neuroaxonal dystrophy10.3
16axonal neuropathy10.3
17dystonia10.3
18neuronal ceroid lipofuscinosis10.3
19neuropathy10.3
20cerebellar degeneration10.3
21schindler disease, type 110.3
22ataxia10.3
23neuronal intranuclear inclusion disease10.1RPS27A
24inclusion body myositis10.1APP
25lateral sclerosis10.1
26tropical spastic paraparesis10.1
27zellweger syndrome10.1
28scrapie10.1
29acute hemorrhagic encephalitis10.1
30biliary atresia10.1
31osteopetrosis10.1
32renal tubular acidosis10.1
33encephalitis10.1
34laryngitis10.1
35pancreatitis10.1
36polyneuropathy10.1
37pla2g6-associated neurodegeneration10.1
38cerebellar hypoplasia10.1
39diencephalic syndrome10.1
40fetal akinesia deformation sequence10.1
41hunter carpenter macdonald syndrome10.1
42kanzaki disease10.1
43spastic paraparesis10.1
44brain injury10.1
45spasticity10.1
46traumatic brain injury10.1
47c6 deficiency10.1
48rem sleep behavior disorder10.1SNCA
49lewy body dementia10.1SNCA
50hemorrhage, intracerebral10.1RPS27A, APP

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



Diseases related to neuroaxonal dystrophy

Symptoms for Neuroaxonal Dystrophy

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Drugs & Therapeutics for Neuroaxonal Dystrophy

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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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

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Anatomical Context for Neuroaxonal Dystrophy

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34MalaCards
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MalaCards organs/tissues related to Neuroaxonal Dystrophy:

34
Skin, Brain, Skeletal muscle, Retina, Pancreatic islet, Pineal, Cortex

Animal Models for Neuroaxonal Dystrophy or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Neuroaxonal Dystrophy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053878.1SNCA, PLA2G6, PANK1, PANK2, APP, IGF1
2MP:00053897.9IGF1, APP, PANK2, NTF3, PLA2G6, SNCA
3MP:00053697.9GAN, IGF1, APP, PANK2, PANK1, NTF3
4MP:00053847.5IGF1, APP, PANK2, PANK1, PLA2G6, SNCA
5MP:00053867.3APP, NALCN, PANK2, PANK1, NTF3, PLA2G6
6MP:00053787.2IGF1, APP, PANK2, PANK1, NTF3, PLA2G6
7MP:00036317.2IGF1, APP, NALCN, PANK2, NTF3, PLA2G6
8MP:00053767.0IGF1, APP, NALCN, NAGA, PANK2, PANK1
9MP:00107686.7IGF1, APP, NALCN, PANK2, PANK1, NTF3

Publications for Neuroaxonal Dystrophy

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53PubMed
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Articles related to Neuroaxonal Dystrophy:

(show top 50)    (show all 190)
idTitleAuthorsYear
1
Infantile neuroaxonal dystrophy: a rare cause of early childhood ataxia with poor prognosis. (23073992)
2013
2
Neuroaxonal dystrophy in Australian Merino lambs. (22055697)
2012
3
Evaluation of epidemiological, clinical, and pathological features of neuroaxonal dystrophy in Quarter Horses. (21916766)
2011
4
MRI Findings in Patients with Clinical Onset Consistent with Infantile Neuroaxonal Dystrophy (INAD), Literature Review, Clinical and MRI Follow-up. (24059609)
2011
5
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
6
Lysosomal compromise and brain dysfunction: examining the role of neuroaxonal dystrophy. (21118103)
2010
7
Neuroaxonal dystrophy associated with cerebellar dysfunction in a 5-month-old Pony of the Americas colt. (19747195)
2009
8
Disrupted membrane homeostasis and accumulation of ubiquitinated proteins in a mouse model of infantile neuroaxonal dystrophy caused by PLA2G6 mutations. (18202189)
2008
9
Experimental rat models of types 1 and 2 diabetes differ in sympathetic neuroaxonal dystrophy. (15198124)
2004
10
Purkinje cell neuroaxonal dystrophy similar to nervous mutant mice phenotype in two sibling kittens. (15042386)
2004
11
Infantile neuroaxonal dystrophy and pantothenate-kinase-associated neurodegeneration: locus heterogeneity. (15365152)
2004
12
Juvenile neuroaxonal dystrophy in a Rottweiler: accumulation of synaptic proteins in dystrophic axons. (11699565)
2001
13
Effect of IGF-I and neurotrophin-3 on gracile neuroaxonal dystrophy in diabetic and aging rats. (10973596)
2000
14
Infantile neuroaxonal dystrophy and giant axonal neuropathy--overlap diseases of neuronal cytoskeletal elements in childhood? (11048747)
2000
15
Alpha-synuclein immunoreactivity is present in axonal swellings in neuroaxonal dystrophy and acute traumatic brain injury. (10604751)
1999
16
Cerebral glucose metabolism in type I alpha-N-acetylgalactosaminidase deficiency: an infantile neuroaxonal dystrophy. (10456768)
1999
17
GABAergic neuroaxonal dystrophy and other cytopathological alterations in feline Niemann-Pick disease type C. (9255392)
1997
18
Conjunctival biopsy in infantile neuroaxonal dystrophy. (9186140)
1997
19
Laryngeal paralysis in a rottweiler with neuroaxonal dystrophy. (9404606)
1997
20
Effect of chronic autoimmune nerve growth factor deprivation on sympathetic neuroaxonal dystrophy in rats. (7570357)
1995
21
Neuroaxonal dystrophy in HTLV-1-associated myelopathy/tropical spastic paraparesis: neuropathologic and neuroimmunologic correlations. (8213080)
1993
22
Neuroaxonal dystrophy combined with diffuse Lewy body disease in a young adult. (8391956)
1993
23
Inherited neuroaxonal dystrophy in C6 deficient rabbits. (1517772)
1992
24
Terminal axon pathology in infantile neuroaxonal dystrophy. (2059251)
1991
25
Infantile neuroaxonal dystrophy: diagnosis by skin biopsy. (1659791)
1991
26
Schindler disease: the molecular lesion in the alpha-N- acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy. (2243144)
1990
27
Neuroaxonal dystrophy in distal symmetric sensory polyneuropathy of the diabetic BB-rat. (2533212)
1989
28
Neuroaxonal dystrophy in a rottweiler pup. (3410773)
1988
29
Axonal pathology of the skin in infantile neuroaxonal dystrophy. (3434228)
1987
30
Neuroaxonal dystrophy of neonatal onset with unusual clinicopathological findings. (3826552)
1986
31
Pathology of skeletal muscle and intramuscular nerves in infantile neuroaxonal dystrophy. (3962588)
1986
32
Infantile neuroaxonal dystrophy: perinatal onset with symptoms of diencephalic syndrome. (2986047)
1985
33
Canine neuroaxonal dystrophy. (6842267)
1983
34
Suspected inherited cerebellar neuroaxonal dystrophy in collie sheep dogs. (16030883)
1982
35
Neuroaxonal dystrophy in childhood. Report of two second cousins with Hallerworden-Spatz disease, and a case of Seitelberger's disease. (7158329)
1982
36
Familial neuroaxonal dystrophy with principal lesions of nigro-pallido-subthalamic degeneration. (6290357)
1982
37
Neuroaxonal dystrophy in young adults: a clinicopathological study of two unrelated cases. (7103414)
1982
38
Neuroaxonal dystrophy and Down's syndrome. Report of a case. (6214243)
1982
39
Neuroaxonal dystrophy in cerebral infarcts. (6156923)
1980
40
Reactive neuroaxonal dystrophy in children. Clinical pathological correlation. (676673)
1978
41
Infantile neuroaxonal dystrophy and related disorders. (80340)
1978
42
Infantile neuroaxonal dystrophy. Ultrastructural study of peripheral nerve. (184642)
1976
43
An analysis of the ultrastructural findings in infantile neuroaxonal dystrophy (Seitelberger's disease). (4842105)
1974
44
Infantile neuroaxonal dystrophy. Histological and electron microscopical study of two cases. (4446941)
1974
45
Amyotrophic lateral sclerosis-dementia complex, neuroaxonal dystrophy, and Hallervorden-Spatz disease. (4734498)
1973
46
Neuroaxonal dystrophy in subacute dementia. Case report. (4637008)
1972
47
Electron microscopical study of neuroaxonal dystrophy. Case report. (4330096)
1971
48
Infantile neuroaxonal dystrophy. (5507737)
1970
49
Electron microscopic observations in infantile neuroaxonal dystrophy. Report of a cortical biopsy and review of the recent literature. (4179165)
1969
50
Infantile neuroaxonal dystrophy. (Seitelberger's disease). Report of an autopsy case. (5886195)
1965

Variations for Neuroaxonal Dystrophy

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Expression for genes affiliated with Neuroaxonal Dystrophy

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2BioGPS, 16Gene 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

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51PathCards, 31KEGG, 39NCBI BioSystems Database, 54QIAGEN, 56Reactome
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Compounds for genes affiliated with Neuroaxonal Dystrophy

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46Novoseek, 25HMDB, 3BitterDB, 52PharmGKB, 30IUPHAR, 12DrugBank, 62Tocris Bioscience
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Compounds related to Neuroaxonal Dystrophy according to GeneCards/GeneDecks:

(show top 50)    (show all 92)
idCompoundScoreTop Affiliating Genes
1thioflavin4610.1SNCA, APP
2manoalide4610.0PLA2G6, APP
3pantothenate4610.0PANK1, PANK2
4D-Pantothenoyl-L-cysteine2510.0PANK1, PANK2
5Pantothenic acid259.9PANK2, PANK1
6pantetheine46 2510.9PANK2, PANK1
7D-4'-Phosphopantothenate259.9PANK1, PANK2
8thioflavine s469.9APP, SNCA, RPS27A
94-phosphopantothenoylcysteine46 2510.9PANK2, PANK1
10formate469.9APP, SNCA, RPS27A
116-hydroxydopamine469.8APP, RPS27A, SNCA
12chloroquine46 3 52 30 1213.8APP, RPS27A, PLA2G6
13guanidine hydrochloride469.7RPS27A, SNCA, NTF3
144-hydroxynonenal46 2510.7SNCA, APP, RPS27A
15valproate469.6APP, IGF1, NTF3
16lactacystin469.4APP, SNCA, RPS27A
17levodopa46 1210.4SNCA, RPS27A, IGF1
18propranolol46 30 52 25 1213.3GRP, APP, PLA2G6
19atropine46 30 1211.3SNCA, APP, GRP
20prostaglandin f2alpha469.2IGF1, GRP, PLA2G6
21alpha tocopherol469.2SNCA, PLA2G6, IGF1
22corticosterone46 62 2511.2GRP, PLA2G6, APP
23aspirin46 52 30 2512.1GRP, PLA2G6, RPS27A, APP
24sodium dodecylsulfate469.1RPS27A, SNCA, APP
25iron46 2510.1PLA2G6, PANK2, SNCA, APP
26gaba469.0RPS27A, APP, NTF3, GRP
27cocaine46 1210.0NTF3, PLA2G6, SNCA, GRP
28carbachol46 30 1211.0NTF3, APP, SNCA, GRP
29gnrh468.9IGF1, APP, GRP, PLA2G6
30cysteine468.9PANK2, NTF3, PLA2G6, SNCA, RPS27A, APP
31norepinephrine46 25 1210.8APP, NTF3, SNCA, GRP
32nmda46 309.8GRP, RPS27A, PLA2G6, APP, NTF3
33paraffin468.7NTF3, GRP, SNCA, RPS27A
34choline46 25 1210.7GRP, PLA2G6, SNCA, NTF3, APP
35creatinine468.6PLA2G6, IGF1, RPS27A, GRP, APP
36dexamethasone46 52 30 1211.6PLA2G6, RPS27A, GRP, IGF1, APP
37cycloheximide468.6IGF1, NTF3, GRP, RPS27A, PLA2G6
38genistein46 30 62 3 25 1213.5IGF1, NTF3, PLA2G6, GRP
39glutamine468.5RPS27A, IGF1, APP, GRP, SNCA
40rapamycin468.5RPS27A, IGF1, NTF3, SNCA, GRP
41testosterone46 62 25 1211.5IGF1, APP, SNCA, RPS27A, GRP
42vegf468.4GRP, RPS27A, IGF1, APP, NTF3
43acetylcholine46 52 30 25 1212.4PLA2G6, SNCA, NTF3, RPS27A, GRP, APP
44adenylate468.4RPS27A, SNCA, APP, GRP, PLA2G6, NTF3
45glutamate468.4RPS27A, GRP, APP, NTF3, PLA2G6, SNCA
46actinomycin d468.3PLA2G6, GRP, RPS27A, NTF3, APP, IGF1
47retinoic acid46 259.3IGF1, NTF3, APP, PLA2G6, RPS27A, GRP
48serine468.0GRP, RPS27A, SNCA, PLA2G6, APP, IGF1
49dopamine46 30 25 1210.9NTF3, APP, GRP, RPS27A, SNCA, PLA2G6
50arginine467.9IGF1, APP, SNCA, GRP, RPS27A, PLA2G6

GO Terms for genes affiliated with Neuroaxonal Dystrophy

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17Gene Ontology
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Cellular components related to Neuroaxonal Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule lumenGO:0310939.6APP, IGF1
2cytosolGO:0058298.2SNCA, APP, PANK2, PANK1, PLA2G6, RPS27A
3extracellular regionGO:0055767.7GRP, IGF1, APP, NTF3, SNCA

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1coenzyme biosynthetic processGO:0091089.8PANK2, PANK1
2coenzyme A biosynthetic processGO:0159379.8PANK1, PANK2
3nucleotide-binding domain, leucine rich repeat containing receptor signaling pathwayGO:0358729.8APP, RPS27A
4pantothenate metabolic processGO:0159399.7PANK2, PANK1
5regulation of multicellular organism growthGO:0400149.7APP, IGF1
6positive regulation of peptidyl-serine phosphorylationGO:0331389.7NTF3, SNCA
7adult locomotory behaviorGO:0083449.4SNCA, APP
8cell deathGO:0082199.0GAN, PLA2G6, PANK2, NALCN
9positive regulation of transcription from RNA polymerase II promoterGO:0459449.0APP, NTF3, RPS27A, IGF1

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

idNameGO IDScoreTop Affiliating Genes
1pantothenate kinase activityGO:0045949.3PANK1, PANK2
2receptor bindingGO:0051029.0GRP, NTF3, APP

Products for genes affiliated with Neuroaxonal Dystrophy

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Sources for Neuroaxonal Dystrophy

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet