MCID: NRX001
MIFTS: 50

Neuroaxonal Dystrophy malady

Genetic diseases, Neuronal diseases, Rare diseases categories

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 dementia. 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.

Aliases & Classifications for Neuroaxonal Dystrophy

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Sources:
10Disease Ontology, 12DISEASES, 45Novoseek, 62UMLS, 35MeSH, 57SNOMED-CT
See all sources

Neuroaxonal Dystrophy, Aliases & Descriptions:

Name: Neuroaxonal Dystrophy 10 12
 
Neuroaxonal Dystrophies 45 62


Classifications:

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


External Ids:

Disease Ontology10 DOID:2367
SNOMED-CT57 230365004
MeSH35 D019150

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/GeneDecks gene sharing:

(show top 50)    (show all 80)
idRelated DiseaseScoreTop Affiliating Genes
1infantile neuroaxonal dystrophy 131.3NAGA, RPS27A, APP
2dementia30.6RPS27A, GRP, SNCA, APP
3giant axonal neuropathy30.5GAN
4neurodegeneration with brain iron accumulation 130.3PANK2
5creutzfeldt-jakob disease30.2RPS27A, SNCA, APP
6pick disease30.2RPS27A, SNCA, APP
7neuronitis10.5
8cerebritis10.4
9neuroaxonal dystrophy renal tubular acidosis10.4
10osteopetrosis and infantile neuroaxonal dystrophy10.4
11schindler disease10.4
12atypical neuroaxonal dystrophy10.4
13schindler disease, type i10.3
14axonal neuropathy10.3
15dystonia10.3
16neuronal ceroid lipofuscinosis10.3
17neuropathy10.3
18cerebellar degeneration10.3
19ataxia10.3
20fetal akinesia deformation sequence10.1
21kanzaki disease10.1
22c6 deficiency10.1
23brain injury10.1
24niemann-pick disease10.1
25osteopetrosis10.1
26renal tubular acidosis10.1
27traumatic brain injury10.1
28lateral sclerosis10.1
29tropical spastic paraparesis10.1
30zellweger syndrome10.1
31scrapie10.1
32acute hemorrhagic encephalitis10.1
33biliary atresia10.1
34encephalitis10.1
35laryngitis10.1
36pancreatitis10.1
37polyneuropathy10.1
38synucleinopathy10.1
39cerebellar hypoplasia10.1
40diencephalic syndrome10.1
41hunter carpenter macdonald syndrome10.1
42spastic paraparesis10.1
43spasticity10.1
44neuronal intranuclear inclusion disease10.1RPS27A
45inclusion body myositis10.1APP
46rem sleep behavior disorder10.0SNCA
47dementia, lewy body10.0SNCA
48hemorrhage, intracerebral10.0RPS27A, APP
49striatonigral degeneration10.0RPS27A, SNCA
50parkinson disease, late-onset10.0RPS27A, SNCA

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:

33
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:

37
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/GeneDecks:

(show top 50)    (show all 92)
idCompoundScoreTop Affiliating Genes
1thioflavin4510.1SNCA, APP
2manoalide4510.0PLA2G6, APP
3pantothenate4510.0PANK1, PANK2
4D-Pantothenoyl-L-cysteine2610.0PANK1, PANK2
5Pantothenic acid269.9PANK2, PANK1
6pantetheine45 2610.9PANK2, PANK1
7D-4'-Phosphopantothenate269.9PANK1, PANK2
8thioflavine s459.9APP, SNCA, RPS27A
94-phosphopantothenoylcysteine45 2610.9PANK2, PANK1
10formate459.9APP, SNCA, RPS27A
116-hydroxydopamine459.8APP, RPS27A, SNCA
12chloroquine45 3 51 30 1313.8APP, RPS27A, PLA2G6
13guanidine hydrochloride459.7RPS27A, SNCA, NTF3
144-hydroxynonenal45 2610.7SNCA, APP, RPS27A
15valproate459.6APP, IGF1, NTF3
16lactacystin459.4APP, SNCA, RPS27A
17levodopa45 1310.4SNCA, RPS27A, IGF1
18propranolol45 30 51 26 1313.3GRP, APP, PLA2G6
19atropine45 30 1311.3SNCA, APP, GRP
20prostaglandin f2alpha459.2IGF1, GRP, PLA2G6
21alpha tocopherol459.2SNCA, PLA2G6, IGF1
22corticosterone45 61 2611.2GRP, PLA2G6, APP
23aspirin45 51 30 2612.1GRP, PLA2G6, RPS27A, APP
24sodium dodecylsulfate459.1RPS27A, SNCA, APP
25iron45 2610.1PLA2G6, PANK2, SNCA, APP
26gaba459.0RPS27A, APP, NTF3, GRP
27cocaine45 1310.0NTF3, PLA2G6, SNCA, GRP
28carbachol45 30 1311.0NTF3, APP, SNCA, GRP
29gnrh458.9IGF1, APP, GRP, PLA2G6
30cysteine458.9PANK2, NTF3, PLA2G6, SNCA, RPS27A, APP
31norepinephrine45 26 1310.8APP, NTF3, SNCA, GRP
32nmda45 309.8GRP, RPS27A, PLA2G6, APP, NTF3
33paraffin458.7NTF3, GRP, SNCA, RPS27A
34choline45 26 1310.7GRP, PLA2G6, SNCA, NTF3, APP
35creatinine458.6PLA2G6, IGF1, RPS27A, GRP, APP
36dexamethasone45 51 30 1311.6PLA2G6, RPS27A, GRP, IGF1, APP
37cycloheximide458.6IGF1, NTF3, GRP, RPS27A, PLA2G6
38genistein45 30 61 3 26 1313.5IGF1, NTF3, PLA2G6, GRP
39glutamine458.5RPS27A, IGF1, APP, GRP, SNCA
40rapamycin458.5RPS27A, IGF1, NTF3, SNCA, GRP
41testosterone45 61 26 1311.5IGF1, APP, SNCA, RPS27A, GRP
42vegf458.4GRP, RPS27A, IGF1, APP, NTF3
43acetylcholine45 51 30 26 1312.4PLA2G6, SNCA, NTF3, RPS27A, GRP, APP
44adenylate458.4RPS27A, SNCA, APP, GRP, PLA2G6, NTF3
45glutamate458.4RPS27A, GRP, APP, NTF3, PLA2G6, SNCA
46actinomycin d458.3PLA2G6, GRP, RPS27A, NTF3, APP, IGF1
47retinoic acid45 269.3IGF1, NTF3, APP, PLA2G6, RPS27A, GRP
48serine458.0GRP, RPS27A, SNCA, PLA2G6, APP, IGF1
49dopamine45 30 26 1310.9NTF3, APP, GRP, RPS27A, SNCA, PLA2G6
50arginine457.9IGF1, 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/GeneDecks:

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/GeneDecks:

(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/GeneDecks:

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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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet