MCID: NRX001
MIFTS: 43

Neuroaxonal Dystrophy malady

Genetic diseases, Neuronal diseases, Rare diseases categories

Aliases & Classifications for Neuroaxonal Dystrophy

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Neuroaxonal Dystrophy, Aliases & Descriptions:

Name: Neuroaxonal Dystrophy 9 11
 
Neuroaxonal Dystrophies 43 60


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


External Ids:

Disease Ontology9 DOID:2367
SNOMED-CT55 230365004
MeSH33 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 giant axonal neuropathy. 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 cortex, and related mouse phenotypes are immune system 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 79)
idRelated DiseaseScoreTop Affiliating Genes
1infantile neuroaxonal dystrophy 131.7APP, NAGA, RPS27A
2giant axonal neuropathy30.9GAN
3dementia30.6APP, SNCA, RPS27A, GRP
4neurodegeneration with brain iron accumulation 130.6PANK2, SNCA
5creutzfeldt-jakob disease30.4APP, SNCA, RPS27A
6pick disease30.4APP, SNCA, RPS27A
7neuronitis10.5
8neuronal intranuclear inclusion disease10.5RPS27A
9inclusion body myositis10.5APP
10rem sleep behavior disorder10.4SNCA
11neuroaxonal dystrophy renal tubular acidosis10.4
12osteopetrosis and infantile neuroaxonal dystrophy10.4
13atypical neuroaxonal dystrophy10.4
14dementia, lewy body10.4SNCA
15cerebritis10.4
16schindler disease10.4
17hemorrhage, intracerebral10.3RPS27A, APP
18striatonigral degeneration10.3SNCA, RPS27A
19schindler disease, type i10.3
20axonal neuropathy10.3
21dystonia10.3
22neuronal ceroid lipofuscinosis10.3
23neuropathy10.3
24cerebellar degeneration10.3
25ataxia10.3
26parkinson disease, late-onset10.3SNCA, RPS27A
27niemann-pick disease, type c110.3SNCA, APP
28machado-joseph disease10.2SNCA, RPS27A
29movement disease10.2SNCA, PANK2
30glomerulonephritis10.2RPS27A, PLA2G6, NAGA
31spinocerebellar ataxia10.2SNCA, RPS27A
32supranuclear palsy, progressive10.2APP, SNCA, RPS27A
33vascular dementia10.2APP, SNCA, RPS27A
34tauopathy10.2APP, SNCA, RPS27A
35ganglioneuroma10.2NTF3, SNCA
36dementia, frontotemporal10.2RPS27A, SNCA, APP
37myositis10.2RPS27A, SNCA, APP
38amyloidosis10.2APP, SNCA, RPS27A
39motor neuron disease10.1RPS27A, SNCA, NTF3
40multiple system atrophy10.1RPS27A, SNCA
41fetal akinesia deformation sequence10.1
42kanzaki disease10.1
43c6 deficiency10.1
44brain injury10.1
45niemann-pick disease10.1
46osteopetrosis10.1
47renal tubular acidosis10.1
48traumatic brain injury10.1
49lateral sclerosis10.1
50tropical spastic paraparesis10.1

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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Drug clinical trials:

Search ClinicalTrials for Neuroaxonal Dystrophy

Search NIH Clinical Center for Neuroaxonal Dystrophy

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:

31
Skin, Brain, Cortex, Retina, Skeletal muscle, Pancreatic islet, Pineal

Animal Models for Neuroaxonal Dystrophy or affiliated genes

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MGI Mouse Phenotypes related to Neuroaxonal Dystrophy:

35
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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Articles related to Neuroaxonal Dystrophy:

(show top 50)    (show all 195)
idTitleAuthorsYear
1
Downbeat nystagmus as the presenting symptom of infantile neuroaxonal dystrophy: A case report. (24800972)
2014
2
Infantile neuroaxonal dystrophy caused by uniparental disomy. (24628589)
2014
3
Infantile neuroaxonal dystrophy: a rare cause of early childhood ataxia with poor prognosis. (23073992)
2013
4
Neuroaxonal dystrophy in Australian Merino lambs. (22055697)
2012
5
Evaluation of epidemiological, clinical, and pathological features of neuroaxonal dystrophy in Quarter Horses. (21916766)
2011
6
MRI Findings in Patients with Clinical Onset Consistent with Infantile Neuroaxonal Dystrophy (INAD), Literature Review, Clinical and MRI Follow-up. (24059609)
2011
7
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
8
Lysosomal compromise and brain dysfunction: examining the role of neuroaxonal dystrophy. (21118103)
2010
9
Disrupted membrane homeostasis and accumulation of ubiquitinated proteins in a mouse model of infantile neuroaxonal dystrophy caused by PLA2G6 mutations. (18202189)
2008
10
Experimental rat models of types 1 and 2 diabetes differ in sympathetic neuroaxonal dystrophy. (15198124)
2004
11
Purkinje cell neuroaxonal dystrophy similar to nervous mutant mice phenotype in two sibling kittens. (15042386)
2004
12
Infantile neuroaxonal dystrophy and pantothenate-kinase-associated neurodegeneration: locus heterogeneity. (15365152)
2004
13
Juvenile neuroaxonal dystrophy in a Rottweiler: accumulation of synaptic proteins in dystrophic axons. (11699565)
2001
14
Effect of IGF-I and neurotrophin-3 on gracile neuroaxonal dystrophy in diabetic and aging rats. (10973596)
2000
15
Infantile neuroaxonal dystrophy and giant axonal neuropathy--overlap diseases of neuronal cytoskeletal elements in childhood? (11048747)
2000
16
Alpha-synuclein immunoreactivity is present in axonal swellings in neuroaxonal dystrophy and acute traumatic brain injury. (10604751)
1999
17
Cerebral glucose metabolism in type I alpha-N-acetylgalactosaminidase deficiency: an infantile neuroaxonal dystrophy. (10456768)
1999
18
GABAergic neuroaxonal dystrophy and other cytopathological alterations in feline Niemann-Pick disease type C. (9255392)
1997
19
Conjunctival biopsy in infantile neuroaxonal dystrophy. (9186140)
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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Search GEO for disease gene expression data for Neuroaxonal Dystrophy.

Pathways for genes affiliated with Neuroaxonal Dystrophy

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Compounds for genes affiliated with Neuroaxonal Dystrophy

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Compounds related to Neuroaxonal Dystrophy according to GeneCards Suite gene sharing:

(show top 50)    (show all 92)
idCompoundScoreTop Affiliating Genes
1thioflavin4310.1SNCA, APP
2manoalide4310.0PLA2G6, APP
3pantothenate4310.0PANK1, PANK2
4D-Pantothenoyl-L-cysteine2410.0PANK1, PANK2
5Pantothenic acid249.9PANK2, PANK1
6pantetheine43 2410.9PANK2, PANK1
7D-4'-Phosphopantothenate249.9PANK1, PANK2
8thioflavine s439.9APP, SNCA, RPS27A
94-phosphopantothenoylcysteine43 2410.9PANK2, PANK1
10formate439.9APP, SNCA, RPS27A
116-hydroxydopamine439.8APP, RPS27A, SNCA
12chloroquine43 2 49 28 1213.8APP, RPS27A, PLA2G6
13guanidine hydrochloride439.7RPS27A, SNCA, NTF3
144-hydroxynonenal43 2410.7SNCA, APP, RPS27A
15valproate439.6APP, IGF1, NTF3
16lactacystin439.4APP, SNCA, RPS27A
17levodopa43 1210.4SNCA, RPS27A, IGF1
18propranolol43 28 49 24 1213.3GRP, APP, PLA2G6
19atropine43 28 1211.3SNCA, APP, GRP
20prostaglandin f2alpha439.2IGF1, GRP, PLA2G6
21alpha tocopherol439.2SNCA, PLA2G6, IGF1
22corticosterone43 59 2411.2GRP, PLA2G6, APP
23aspirin43 49 28 2412.1GRP, PLA2G6, RPS27A, APP
24sodium dodecylsulfate439.1RPS27A, SNCA, APP
25iron43 2410.1PLA2G6, PANK2, SNCA, APP
26gaba439.0RPS27A, APP, NTF3, GRP
27cocaine43 1210.0NTF3, PLA2G6, SNCA, GRP
28carbachol43 28 1211.0NTF3, APP, SNCA, GRP
29gnrh438.9IGF1, APP, GRP, PLA2G6
30cysteine438.9PANK2, NTF3, PLA2G6, SNCA, RPS27A, APP
31norepinephrine43 24 1210.8APP, NTF3, SNCA, GRP
32nmda43 289.8GRP, RPS27A, PLA2G6, APP, NTF3
33paraffin438.7NTF3, GRP, SNCA, RPS27A
34choline43 24 1210.7GRP, PLA2G6, SNCA, NTF3, APP
35creatinine438.6PLA2G6, IGF1, RPS27A, GRP, APP
36dexamethasone43 49 28 1211.6PLA2G6, RPS27A, GRP, IGF1, APP
37cycloheximide438.6IGF1, NTF3, GRP, RPS27A, PLA2G6
38genistein43 28 59 2 24 1213.5IGF1, NTF3, PLA2G6, GRP
39glutamine438.5RPS27A, IGF1, APP, GRP, SNCA
40rapamycin438.5RPS27A, IGF1, NTF3, SNCA, GRP
41testosterone43 59 24 1211.5IGF1, APP, SNCA, RPS27A, GRP
42vegf438.4GRP, RPS27A, IGF1, APP, NTF3
43acetylcholine43 49 28 24 1212.4PLA2G6, SNCA, NTF3, RPS27A, GRP, APP
44adenylate438.4RPS27A, SNCA, APP, GRP, PLA2G6, NTF3
45glutamate438.4RPS27A, GRP, APP, NTF3, PLA2G6, SNCA
46actinomycin d438.3PLA2G6, GRP, RPS27A, NTF3, APP, IGF1
47retinoic acid43 249.3IGF1, NTF3, APP, PLA2G6, RPS27A, GRP
48serine438.0GRP, RPS27A, SNCA, PLA2G6, APP, IGF1
49dopamine43 28 24 1210.9NTF3, APP, GRP, RPS27A, SNCA, PLA2G6
50arginine437.9IGF1, APP, SNCA, GRP, RPS27A, PLA2G6

GO Terms for genes affiliated with Neuroaxonal Dystrophy

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Cellular components related to Neuroaxonal Dystrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule lumenGO:00310939.6APP, IGF1
2cytosolGO:00058298.2RPS27A, SNCA, PLA2G6, PANK1, PANK2, APP
3extracellular regionGO:00055767.7IGF1, APP, NTF3, SNCA, GRP

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1coenzyme biosynthetic processGO:00091089.8PANK2, PANK1
2coenzyme A biosynthetic processGO:00159379.8PANK1, PANK2
3nucleotide-binding domain, leucine rich repeat containing receptor signaling pathwayGO:00358729.8APP, RPS27A
4pantothenate metabolic processGO:00159399.7PANK1, PANK2
5regulation of multicellular organism growthGO:00400149.7IGF1, APP
6positive regulation of peptidyl-serine phosphorylationGO:00331389.7SNCA, NTF3
7adult locomotory behaviorGO:00083449.4SNCA, APP
8cell deathGO:00082199.0GAN, PLA2G6, PANK2, NALCN
9positive regulation of transcription from RNA polymerase II promoterGO:00459449.0RPS27A, NTF3, APP, IGF1

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

idNameGO IDScoreTop Affiliating Genes
1pantothenate kinase activityGO:00045949.3PANK1, PANK2
2receptor bindingGO:00051029.0GRP, NTF3, APP

Products for genes affiliated with Neuroaxonal Dystrophy

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Sources for Neuroaxonal Dystrophy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet