MCID: NRX001
MIFTS: 48

Neuroaxonal Dystrophy malady

Neuronal diseases category

Summaries for Neuroaxonal Dystrophy

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32MalaCards
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MalaCards: Neuroaxonal Dystrophy, also known as neuroaxonal dystrophies, is related to neuroaxonal dystrophy, infantile and dementia. 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 skeletal muscle, and related mouse phenotypes are nervous system and vision/eye.

Aliases & Classifications for Neuroaxonal Dystrophy

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8Disease Ontology, 10DISEASES, 44Novoseek, 60UMLS, 34MeSH, 56SNOMED-CT
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Classifications:

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


Aliases & Descriptions:

neuroaxonal dystrophy 8 10
neuroaxonal dystrophies 44 60


External Ids:

Disease Ontology8 DOID:2367
SNOMED-CT56 230365004
MeSH34 D019150

Related Diseases for Neuroaxonal Dystrophy

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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 104)
idRelated DiseaseScoreTop Affiliating Genes
1neuroaxonal dystrophy, infantile31.1NAGA, APP, RPS27A
2dementia30.5RPS27A, APP, SNCA, GRP, NGF
3pantothenate kinase-associated neurodegeneration30.4PANK2, SNCA
4giant axonal neuropathy30.3GAN
5neuropathy30.3GAN, NTF3, NGF
6polyneuropathy30.1GAN
7pancreatitis30.1PLA2G6
8niemann-pick disease30.1APP, SNCA
9amyotrophic lateral sclerosis30.0RPS27A, APP, SNCA, NTRK1, IGF1, NGF
10alzheimer's disease30.0RPS27A, APP, SNCA, NTRK1, NTF3, NGF
11neuronitis10.5
12infantile neuroaxonal dystrophy 110.4
13neuroaxonal dystrophy renal tubular acidosis10.4
14cerebritis10.3
15osteopetrosis and infantile neuroaxonal dystrophy10.3
16atypical neuroaxonal dystrophy10.3
17axonal neuropathy10.2
18neuronal ceroid lipofuscinosis10.2
19schindler disease, type 110.2
20tropical spastic paraparesis10.1
21lateral sclerosis10.1
22thalamic disease10.1
23biliary atresia10.1
24osteopetrosis10.1
25diabetic polyneuropathy10.1
26zellweger syndrome10.1
27scrapie10.1
28acute hemorrhagic encephalitis10.1
29renal tubular acidosis10.1
30autonomic nervous system disease10.1
31encephalitis10.1
32hemorrhagic disease10.1
33laryngitis10.1
34nervous system disease10.1
35pla2g6-associated neurodegeneration10.1
36kanzaki disease10.1
37hunter carpenter macdonald syndrome10.1
38schindler disease10.1
39prion disease10.0NTF3
40endometriosis10.0RPS27A
41peripheral neuropathy10.0NTRK1
42lewy body dementia10.0SNCA
43dysautonomia10.0SNCA
44diabetic autonomic neuropathy10.0NGF
45arthritis10.0PLA2G6
46rem sleep behavior disorder10.0SNCA
47inclusion body myositis10.0APP
48phaeochromocytoma10.0NGF
49hallermann-streiff syndrome10.0BCS1L
50hydrocephalus10.0NTF3

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



Diseases related to neuroaxonal dystrophy

Clinical Features for Neuroaxonal Dystrophy

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Drugs & Therapeutics for Neuroaxonal Dystrophy

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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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32MalaCards
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MalaCards organs/tissues related to Neuroaxonal Dystrophy:

32
Skin, Brain, Skeletal muscle, Retina, Pancreatic islet, Pineal, Cortex

Animal Models for Neuroaxonal Dystrophy or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Neuroaxonal Dystrophy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036318.7GAN, SNCA, NTRK1, PANK2, SEMA6A
2MP:00053918.1NTRK1, NTF3, NGF, PANK2, SEMA6A, SORD
3MP:00053897.6APP, SNCA, NTF3, IGF1, PLA2G6, PANK2
4MP:00053697.5PANK1, APP, GAN, NTRK1, NTF3, IGF1
5MP:00053786.5NTRK1, SNCA, GAN, APP, NTF3, IGF1
6MP:00053866.5APP, GAN, SNCA, NTRK1, NTF3, NGF
7MP:00107686.4APP, GAN, SNCA, NTRK1, NTF3, IGF1
8MP:00053766.2SORD, APP, SNCA, NTF3, IGF1, NGF

Publications for Neuroaxonal Dystrophy

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50PubMed
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Articles related to Neuroaxonal Dystrophy:

(show top 50)    (show all 193)
idTitleAuthorsYear
1
Infantile neuroaxonal dystrophy: a rare cause of early childhood ataxia with poor prognosis. (23073992)
2013
2
Lysosomal compromise and brain dysfunction: examining the role of neuroaxonal dystrophy. (21118103)
2010
3
Disrupted membrane homeostasis and accumulation of ubiquitinated proteins in a mouse model of infantile neuroaxonal dystrophy caused by PLA2G6 mutations. (18202189)
2008
4
Infantile neuroaxonal dystrophy: what's most important for the diagnosis? (18359254)
2008
5
Clinicopathological features of canine neuroaxonal dystrophy and cerebellar cortical abiotrophy in Papillon and Papillon-related dogs. (17984592)
2007
6
PLA2G6 mutation underlies infantile neuroaxonal dystrophy. (17033970)
2006
7
Sympathetic neuroaxonal dystrophy in the aged rat pineal gland. (16202480)
2006
8
Cerebellar hypoperfusion in infantile neuroaxonal dystrophy. (15664778)
2005
9
Ganglion-specific patterns of diabetes-modulated gene expression are established in prevertebral and paravertebral sympathetic ganglia prior to the development of neuroaxonal dystrophy. (15581182)
2004
10
Diffusion-weighted and conventional MR imaging findings of neuroaxonal dystrophy. (15313723)
2004
11
Proton MR spectroscopy reveals lactate in infantile neuroaxonal dystrophy (INAD). (11414651)
2001
12
Infantile neuroaxonal dystrophy and giant axonal neuropathy--overlap diseases of neuronal cytoskeletal elements in childhood? (11048747)
2000
13
Neuroaxonal dystrophy with dystonia and pallidal involvement. (10480212)
1999
14
Conjunctival biopsy in infantile neuroaxonal dystrophy. (9186140)
1997
15
Neuroaxonal dystrophy in a two-year-old quarter horse filly. (8746420)
1996
16
Ultrastructure and immunoreactivity of dystrophic axons indicate a different pathogenesis of Hallervorden-Spatz disease and infantile neuroaxonal dystrophy. (8548127)
1995
17
Neuroaxonal dystrophy at birth with hypertonicity and basal ganglia mineralization. (8151089)
1994
18
An ultrastructural study of the retina in human late infantile neuroaxonal dystrophy. (8460280)
1993
19
Effects of sorbinil, dietary myo-inositol supplementation, and insulin on resolution of neuroaxonal dystrophy in mesenteric nerves of streptozocin-induced diabetic rats. (1902427)
1991
20
Stroke-like syndrome, mineralizing microangiopathy, and neuroaxonal dystrophy following intrathecal methotrexate therapy. (1944923)
1991
21
Neuroaxonal dystrophy in aging human sympathetic ganglia. (1694057)
1990
22
Skin biopsy is useful for diagnosis of infantile neuroaxonal dystrophy. (2375627)
1990
23
Scrapie as a model for neuroaxonal dystrophy: ultrastructural studies. (2806455)
1989
24
Neuroaxonal dystrophy due to lysosomal alpha-N-acetylgalactosaminidase deficiency. (2733734)
1989
25
Early cerebellar degeneration in twins with infantile neuroaxonal dystrophy. (2540694)
1989
26
Axonal pathology of the skin in infantile neuroaxonal dystrophy. (3434228)
1987
27
Diagnosis of juvenile-adult form of neuroaxonal dystrophy by electron microscopy of rectum and skin biopsy. (3612164)
1987
28
Neuroaxonal dystrophy of neonatal onset with unusual clinicopathological findings. (3826552)
1986
29
Infantile neuroaxonal dystrophy: perinatal onset with symptoms of diencephalic syndrome. (2986047)
1985
30
Infantile neuroaxonal dystrophy in an albino girl. A cliniconeuropathologic study. (2986405)
1985
31
Neuroaxonal dystrophy of Rottweiler dogs. (6698879)
1984
32
New enzymatic findings in infantile neuroaxonal dystrophy. (6410678)
1983
33
Neuroaxonal dystrophy in the autonomic ganglia of aged rats. (6864233)
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
Neuroaxonal dystrophy and Down's syndrome. Report of a case. (6214243)
1982
37
Examination of dental pulp to diagnose infantile neuroaxonal dystrophy. (7103775)
1982
38
Infantile neuroaxonal dystrophy. (509195)
1979
39
Infantile neuroaxonal dystrophy and related disorders. (80340)
1978
40
Juvenile neuroaxonal dystrophy: clinical, electrophysiological, and neuropathological features. (103487)
1978
41
Thalamic neuroaxonal dystrophy and dementia in Hodgkin's disease. (943054)
1976
42
Infantile neuroaxonal dystrophy. Histological and electron microscopical study of two cases. (4446941)
1974
43
Hallervorden-Spatz disease and infantile neuroaxonal dystrophy. Clinical characteristics and nosological considerations. (4712933)
1973
44
Neuroaxonal dystrophy. A case of non pigmented type and protracted course. (5056009)
1972
45
Infantile neuroaxonal dystrophy. (5507737)
1970
46
Infantile neuroaxonal dystrophy: cortical axonic and presynaptic changes. (4322239)
1970
47
Infantile neuroaxonal dystrophy with neonatal onset. Neuropathologic and electron microscopic observations. (5646198)
1968
48
A case of neuroaxonal dystrophy of Seitelberger recognized intravitally. (5720432)
1968
49
Neuroaxonal dystrophy in congenital biliary atresia. (5949875)
1966
50
NEUROAXONAL DYSTROPHY IN MUCOVISCIDOSIS. (14219098)
1964

Genetic Variations for Neuroaxonal Dystrophy

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Expression for genes affiliated with Neuroaxonal Dystrophy

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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

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53Reactome, 37NCBI BioSystems Database, 51QIAGEN, 12EMD Millipore, 4Cell Signaling Technology, 29KEGG
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Compounds for genes affiliated with Neuroaxonal Dystrophy

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44Novoseek, 49PharmGKB, 28IUPHAR, 11DrugBank, 24HMDB, 59Tocris Bioscience, 2BitterDB
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Compounds related to Neuroaxonal Dystrophy according to GeneCards/GeneDecks:

(show top 50)    (show all 105)
idCompoundScoreTop Affiliating Genes
1thioflavin4410.2APP, SNCA
2thioflavine s4410.1RPS27A, APP, SNCA
3cipa4410.1NTRK1, NGF
4serine4410.0PLA2G6, SNCA, APP
5propentofylline4410.0APP, NTRK1, NGF
6formate4410.0RPS27A, APP, SNCA
7k252a449.9NTRK1, NTF3, NGF
8ag 879449.9NTRK1, NGF
9gnrh449.8NTRK1, PLA2G6, GRP
106-hydroxydopamine449.8NGF, SNCA, APP, RPS27A
11dexamethasone44 49 28 1112.8APP, GRP, PLA2G6
12lactacystin449.7SNCA, APP, NGF, RPS27A
13ganglioside449.7APP, NTF3, NGF, NTRK1
14levodopa44 1110.5NGF, RPS27A, IGF1, SNCA
15propranolol44 28 49 11 2413.5PLA2G6, NGF, APP, GRP
16valine449.5RPS27A, APP, SNCA, NGF
17atropine44 28 1111.5APP, SNCA, NGF, GRP
18gf 109203x44 5910.5APP, GRP, PLA2G6, NGF
19pantothenate449.4PANK2, PANK1
20glycerol44 11 2411.4PLA2G6, RPS27A, NAGA, NGF
21nmda44 2810.3GRP, RPS27A, APP, NTF3, NGF
22nicotine44 49 28 1112.3GRP, NTF3, NGF, APP
23thapsigargin44 5910.3NGF, GRP, APP, PLA2G6
24cocaine44 1110.3GRP, NGF, NTF3, SNCA, PLA2G6
25carbachol44 28 1111.2NGF, NTF3, GRP, SNCA, APP
26valproate449.2IGF1, NTF3, APP
27iron44 2410.2SNCA, APP, PLA2G6, BCS1L, PANK2
28norepinephrine44 11 2411.2APP, SNCA, GRP, NTF3, NGF
29paraffin449.2SNCA, NTF3, NTRK1, GRP, RPS27A
30phosphatidylcholine449.1NGF, PLA2G6, SNCA, GRP
31rapamycin449.0NTF3, IGF1, RPS27A, GRP, SNCA
32aspirin44 49 28 2412.0PLA2G6, NGF, NTRK1, GRP, APP, RPS27A
33wortmannin448.9GRP, IGF1, NTF3, NTRK1, NGF
34glutamine448.8RPS27A, IGF1, NGF, GRP, APP, SNCA
35genistein44 28 59 2 11 2413.8NTF3, PLA2G6, NGF, GRP, IGF1, NTRK1
36cysteine448.6PANK2, PLA2G6, NGF, RPS27A, NTF3, NTRK1
37actinomycin d448.6RPS27A, APP, GRP, NTF3, IGF1, NGF
38phosphatidylinositol448.6NGF, IGF1, NTF3, NTRK1, PLA2G6, GRP
39cycloheximide448.6PLA2G6, IGF1, NTF3, NTRK1, GRP, RPS27A
40acetylcholine44 49 28 11 2412.5NGF, RPS27A, PLA2G6, NTF3, NTRK1, GRP
41vegf448.5APP, GRP, RPS27A, NTRK1, NTF3, IGF1
42adenylate448.5RPS27A, APP, PLA2G6, NGF, NTF3, NTRK1
43arginine448.3GRP, NGF, IGF1, NTF3, PLA2G6, RPS27A
44alanine448.3SNCA, GRP, NTRK1, NGF, APP, SORD
45retinoic acid44 249.3APP, NTF3, NGF, NTRK1, RPS27A, IGF1
46creatinine448.2RPS27A, NGF, SORD, IGF1, NTRK1, GRP
47choline44 11 2410.1SORD, SNCA, GRP, NTRK1, NTF3, NGF
48dopamine44 28 11 2411.0APP, SNCA, RPS27A, PLA2G6, GRP, NGF
49testosterone44 59 11 2410.9NGF, IGF1, NTRK1, GRP, SNCA, APP
50glutamate447.9PLA2G6, GRP, NGF, NTF3, NTRK1, APP

GO Terms for genes affiliated with Neuroaxonal Dystrophy

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16Gene Ontology
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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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  • Antibodies
  • Proteins
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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
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet