Neuroaxonal Dystrophy malady

MalaCards: Neuroaxonal Dystrophy, also known as neuroaxonal dystrophies, is related to neuroaxonal dystrophy, infantile and hallervorden-spatz syndrome. An important gene associated with Neuroaxonal Dystrophy is NAGA (N-acetylgalactosaminidase, alpha-), and among its related pathways are Development MAG-dependent inhibition of neurite outgrowth and Development_Neurotrophin family signaling. The compounds thioflavin and cipa have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and fetal brain, and related mouse phenotypes are reproductive system and muscle.

Aliases & Descriptions:

neuroaxonal dystrophy 6 8 neuroaxonal dystrophies 32 43

neuroaxonal dystrophy (disorder) 6

Diseases related to neuroaxonal dystrophy by text searches and GeneDecks gene sharing:

(show top 50)    (show all 115)

id	Related Disease	Score	Top Affiliating Genes
1	neuroaxonal dystrophy, infantile	35.7	RPS27A, APP, NAGA
2	hallervorden-spatz syndrome	31.8	PANK2, SNCA
3	traumatic brain injury	28.3	NGF, RPS27A, SNCA, IGF1, APP
4	brain injury	28.2	NGF, RPS27A, SNCA, IGF1, APP
5	cerebritis	26.7	NGF, RPS27A, PLA2G6, SNCA, NTRK1, NTF3
6	neurodegeneration	25.9	SNCA, PLA2G6, RPS27A, NGF, NTRK1, NTF3
7	rem sleep behavior disorder	13.4	RPS27A, SNCA
8	early-onset familial alzheimer disease	13.3	SNCA, APP
9	striatonigral degeneration	13.3	RPS27A, SNCA
10	hereditary sensory and autonomic neuropathy type v	13.3	NGF, NTRK1
11	hereditary cerebral hemorrhage with amyloidosis	13.3	APP, RPS27A
12	askin's tumor	13.3	NGF, NTRK1
13	fibrillary astrocytoma	13.3	SNCA, APP
14	hereditary sensory neuropathy	13.3	NGF, NTRK1
15	niemann-pick disease type c1	13.3	SNCA, APP
16	giant axonal neuropathy	13.2	GAN, RPS27A
17	insensitivity to pain	13.2	NTRK1, NGF
18	vascular dementia	13.2	RPS27A, SNCA, APP
19	anhidrosis	13.2	NTRK1, NGF
20	neuronal intranuclear inclusion disease	13.2	SNCA, RPS27A
21	niemann–pick disease	13.2	SNCA, APP, NAGA
22	lewy body dementia	13.2	APP, SNCA, RPS27A
23	aphasia	13.1	APP, SNCA, RPS27A
24	central pontine myelinolysis	13.1	APP, NTF3, PLA2G6
25	diabetic neuropathy	13.1	NTF3, NTRK1, NGF
26	gliosis	13.1	RPS27A, SNCA, APP
27	sensory peripheral neuropathy	13.1	NGF, NTRK1, NTF3
28	tauopathy	13.1	RPS27A, SNCA, APP
29	memory impairment	13.1	APP, SNCA, NGF
30	inclusion body myositis	13.1	RPS27A, SNCA, APP
31	dysautonomia	13.0	NTRK1, SNCA, NGF
32	hallermann-streiff syndrome	13.0	IGF1, BCS1L
33	progressive supranuclear palsy	13.0	SNCA, RPS27A, NGF
34	movement disease	13.0	RPS27A, SNCA, PANK2
35	frontotemporal dementia	13.0	RPS27A, SNCA, APP
36	aicardi-goutieres syndrome	13.0	SNCA, APP, BCS1L
37	pick's disease	13.0	RPS27A, SNCA, APP, NAGA
38	creutzfeldt-jakob syndrome	12.9	RPS27A, SNCA, NTRK1, APP
39	inclusion body myopathy	12.9	NGF, RPS27A, SNCA, APP
40	acanthocytosis	12.9	RPS27A, PANK2
41	diabetic autonomic neuropathy	12.9	NGF, NTF3, IGF1
42	supranuclear palsy	12.9	APP, SNCA, RPS27A, NGF
43	ganglioneuroma	12.8	NGF, SNCA, NTRK1, NTF3
44	toxic encephalopathy	12.7	APP, NTF3, NGF
45	corticobasal degeneration	12.6	SNCA, RPS27A
46	polyneuropathy	12.6	GAN, NGF, NTF3, APP
47	autonomic neuropathy	12.6	NGF, NTRK1, NTF3, IGF1
48	eating disorder	12.6	NGF, NTRK1, NTF3, IGF1
49	keratoconus	12.5	IGF1, NTRK1, RPS27A
50	tonsillitis	12.5	NGF, NTRK1, NTF3, IGF1

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to neuroaxonal dystrophy:

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MGI Mouse Phenotypes related to neuroaxonal dystrophy:

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id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	reproductive system phenotype	MP:0005389	8.5	PLA2G6, SNCA, APP, PANK2, SEMA6A
2	muscle phenotype	MP:0005369	8.4	APP, IGF1, NTF3, NTRK1, PLA2G6, GAN
3	vision/eye phenotype	MP:0005391	8.1	SORD, NGF, NTRK1, NTF3, PANK2, SEMA6A
4	nervous system phenotype	MP:0003631	7.8	GAN, NGF, PLA2G6, SNCA, NTRK1, NTF3
5	behavior/neurological phenotype	MP:0005386	7.2	SEMA6A, GAN, NGF, PLA2G6, SNCA, NTRK1
6	growth/size phenotype	MP:0005378	7.0	GAN, NGF, PLA2G6, SNCA, NTRK1, NTF3

Articles related to neuroaxonal dystrophy:

(show all 19)

id	Title	Authors	Year	Affiliating Genes
1	Novel splice-site mutations and a large intragenic de letion in PLA2G6 associated with a severe and rapidly progressive form of infan tile neuroaxonal dystrophy. (20584031)	Tonelli A.... Bassi M.T.	2010	PLA2G6
2	Catalytic function of PLA2G6 is impaired by mutations associated with infantile neuroaxonal dystrophy but not dystonia-parkinsonism. (20886109)	Engel L.A.... Kotzbauer P.T.	2010	PLA2G6
3	Expression of PLA2G6 in human fetal development: Impl ications for infantile neuroaxonal dystrophy. (20813170)	Polster B.... Hayflick S.	2010	PLA2G6
4	Clinical study and PLA2G6 mutation screening analysis in Chinese patients with infantile neuroaxonal dystrophy. (19138334)	Wu Y.... Wu X.	2009	PLA2G6
5	Cerebellar atrophy without cerebellar cortex hyperintensity in infantile neuroaxonal dystrophy (INAD) due to PLA2G6 mutation. (17254819)	Biancheri R.... Minetti C.	2007	PLA2G6
6	PLA2G6 mutation underlies infantile neuroaxonal dystrophy. (17033970)	Khateeb S.... Birk O.S.	2006	PLA2G6
7	Experimental rat models of types 1 and 2 diabetes differ in sympathetic neuroaxonal dystrophy. (15198124)	Schmidt R.E.... Sima A.A.	2004	IGF1
8	Infantile neuroaxonal dystrophy and pantothenate-kinase-associated neurodegeneration: locus heterogeneity. (15365152)	Hortnagel K.... Klopstock T.	2004	PANK2
9	Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: no association with neuroaxonal dystrophy? (11313741)	Bakker H.D.... van Diggelen O.P.	2001	NAGA
10	Effect of IGF-I and neurotrophin-3 on gracile neuroaxonal dystrophy in diabetic and aging rats. (10973596)	Schmidt R.E.... Ohara S.	2000	NTF3
11	Juvenile-onset generalized neuroaxonal dystrophy (Hallervorden-Spatz disease) with diffuse neurofibrillary and lewy body pathology. (10663979)	Wakabayashi K.... Takahashi H.	2000	SNCA
12	Alpha-synuclein immunoreactivity is present in axonal swellings in neuroaxonal dystrophy and acute traumatic brain injury. (10604751)	Newell K.L.... Hyman B.T.	1999	SNCA
13	Cerebral glucose metabolism in type I alpha-N-acetylgalactosaminidase deficiency: an infantile neuroaxonal dystrophy. (10456768)	Rudolf J.... Desnick R.J.	1999	NAGA
14	Neuroaxonal dystrophy in infantile alpha-N-acetylgalactosaminidase deficiency. (8523030)	Wolfe D.E.... Desnick R.J.	1995	NAGA
15	Neuroaxonal dystrophy in HTLV-1-associated myelopathy/tropical spastic paraparesis: neuropathologic and neuroimmunologic correlations. (8213080)	Wu E.... Raine C.S.	1993	RPS27A
16	Infantile Neuroaxonal Dystrophy (20301718)	Gregory A.... Hayflick S.J.	1993	PLA2G6
17	Schindler disease: the molecular lesion in the alpha-N- acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy. (2243144)	Wang A.M.... Desnick R.J.	1990	NAGA
18	Schindler disease: an inherited neuroaxonal dystrophy due to alpha-N-acetylgalactosaminidase deficiency. (2122121)	Desnick R.J.... Wang A.M.	1990	NAGA
19	Neuroaxonal dystrophy in aging human sympathetic ganglia. (1694057)	Schmidt R.E.... Roth K.A.	1990	GRP

Genes related to neuroaxonal dystrophy according to GeneCards:

(show all 16)

id	Symbol	Description	Score	GeneCards Section Context
1	NAGA	N-acetylgalactosaminidase, alpha-	11.0	Publications
2	RPS27A	ribosomal protein S27a	11.0	Publications
3	PLA2G6	phospholipase A2, group VI (cytosolic, calcium-independent)	11.0	Publications
4	APP	amyloid beta (A4) precursor protein	11.0
5	NTF3	neurotrophin 3	11.0	Publications
6	NTRK1	neurotrophic tyrosine kinase, receptor, type 1	11.0
7	SNCA	synuclein, alpha (non A4 component of amyloid precursor)	11.0	Publications
8	NGF	nerve growth factor (beta polypeptide)	11.0
9	BCS1L	BCS1-like (S. cerevisiae)	11.0
10	PANK2	pantothenate kinase 2	11.0	Publications
11	PANK1	pantothenate kinase 1	11.0
12	SEMA6A	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	11.0
13	GAN	gigaxonin	11.0
14	SORD	sorbitol dehydrogenase	11.0
15	GRP	gastrin-releasing peptide	11.0	Publications
16	IGF1	insulin-like growth factor 1 (somatomedin C)	11.0	Publications

Pathways related to neuroaxonal dystrophy according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Development MAG-dependent inhibition of neurite outgrowth10	9.8	NGF, NTRK1, NTF3
2	Development_Neurotrophin family signaling41	9.8	NGF, NTRK1, NTF3
3	Development Neurotrophin family signaling10	9.7	NGF, NTRK1, NTF3
4	Pantothenate and CoA biosynthesis20	9.7	PANK1, PANK2
5	Development_MAG-dependent inhibition of neurite outgrowth41	9.7	NGF, NTRK1, NTF3
6	Neuroscience3	9.3	APP, NTRK1, SNCA, NGF
7	DHA Signaling36	9.1	APP, IGF1, NTF3, NTRK1, PLA2G6
8	MAPK signaling pathway20	9.1	NTF3, NTRK1, PLA2G6, NGF
9	14-3-3 Induced Intracellular Signaling36	9.0	SNCA, NTRK1, NTF3, IGF1

Compounds related to neuroaxonal dystrophy according to GeneDecks:

(show top 50)    (show all 90)

id	Compound	Score	Top Affiliating Genes
1	thioflavin32	10.2	SNCA, APP
2	cipa32	10.2	NTRK1, NGF
3	ro 08-275042	10.2	NTRK1, NGF
4	thioflavine s32	10.1	APP, SNCA, RPS27A
5	ag 87932 42	11.1	NGF, NTRK1
6	propentofylline32	10.0	NTRK1, APP, NGF
7	formate32	10.0	RPS27A, SNCA, APP
8	k252a32	9.9	NTRK1, NTF3, NGF
9	pantothenate32	9.9	PANK2, PANK1
10	nicotine32 34 9 9	12.8	GRP
11	6-hydroxydopamine32	9.8	NGF, RPS27A, APP, SNCA
12	lactacystin32	9.7	NGF, RPS27A, SNCA, APP
13	ganglioside32	9.7	NGF, NTRK1, NTF3, APP
14	pantetheine32 18	10.7	PANK2, PANK1
15	levodopa32 9 9	11.5	RPS27A, SNCA, IGF1, NGF
16	valine32	9.4	NGF, APP, SNCA, RPS27A
17	glycerol32 9 18 9	12.4	PLA2G6, NGF, NAGA, RPS27A
18	propranolol32 34 9 18 9	13.2	APP, GRP, PLA2G6, NGF
19	gf 109203x32 42	10.2	PLA2G6, APP, GRP, NGF
20	atropine32 9 9	11.2	NGF, GRP, SNCA, APP
21	aspirin32 34 18	11.0	PLA2G6, GRP, APP, RPS27A, NGF
22	iron32 18	10.0	SNCA, APP, BCS1L, PANK2, PLA2G6
23	thapsigargin32 42	10.0	APP, GRP, PLA2G6, NGF
24	cocaine32 9 9	10.9	PLA2G6, SNCA, NTF3, NGF, GRP
25	carbachol32 9 9	10.9	NGF, APP, GRP, SNCA, NTF3
26	norepinephrine32 9 18 9	11.8	NTF3, SNCA, APP, GRP, NGF
27	paraffin32	8.8	GRP, NTF3, NTRK1, RPS27A, SNCA
28	alanine32	8.8	NGF, NTRK1, GRP, SORD
29	nmda32 42	9.8	NGF, RPS27A, PLA2G6, APP, GRP, NTF3
30	rapamycin32 42	9.7	GRP, IGF1, NTF3, SNCA, RPS27A
31	cysteine32	8.6	NGF, PLA2G6, SNCA, NTRK1, APP, PANK2
32	wortmannin32 42	9.6	NTRK1, GRP, IGF1, NTF3, NGF
33	gnrh32	8.5	NTRK1, PLA2G6, IGF1, APP, GRP, NGF
34	genistein32 9 18 9	11.4	NTF3, PLA2G6, NTRK1, IGF1, GRP, NGF
35	glutamine32	8.4	APP, IGF1, GRP, SNCA, RPS27A, NGF
36	dexamethasone32 42 34 9 9	12.3	RPS27A, NGF, PLA2G6, IGF1, GRP, APP
37	actinomycin d32	8.3	GRP, APP, IGF1, NTF3, PLA2G6, RPS27A
38	cycloheximide32	8.2	GRP, NGF, RPS27A, IGF1, NTF3, NTRK1
39	acetylcholine32 9 18 9	11.2	RPS27A, GRP, APP, NTF3, NTRK1, SNCA
40	adenylate32	8.2	NGF, RPS27A, NTF3, SNCA, NTRK1, APP
41	vegf32	8.1	NTF3, GRP, APP, IGF1, NTRK1, RPS27A
42	arginine32	7.9	IGF1, GRP, NTF3, SNCA, PLA2G6, RPS27A
43	retinoic acid32 42 18	9.9	NGF, GRP, IGF1, NTRK1, NTF3, RPS27A
44	choline32 9 18 9	10.8	PLA2G6, NGF, GRP, SORD, SNCA, APP
45	serine32	7.8	PLA2G6, SNCA, GRP, APP, RPS27A, NGF
46	phosphatidylinositol32	7.7	NGF, GRP, IGF1, NTF3, NTRK1, PLA2G6
47	dopamine32 9 18 9	10.7	NTRK1, GRP, APP, IGF1, NTF3, PLA2G6
48	creatinine32	7.6	NTRK1, APP, SORD, NGF, RPS27A, GRP
49	glutamate32	7.6	GRP, APP, NGF, SORD, NTF3, NTRK1
50	testosterone32 9 18 9	10.6	APP, IGF1, SORD, RPS27A, NGF, GRP

Biological processes related to neuroaxonal dystrophy according to GeneDecks:

(show all 10)

id	Name	GO ID	Score	Top Affiliating Genes
1	mechanoreceptor differentiation	GO:042490	10.1	NTRK1, NTF3
2	coenzyme biosynthetic process	GO:009108	9.8	PANK2, PANK1
3	adult locomotory behavior	GO:008344	9.8	APP, SNCA, NGF
4	coenzyme A biosynthetic process	GO:015937	9.8	PANK1, PANK2
5	positive regulation of Ras protein signal transduction	GO:046579	9.7	IGF1, NTRK1
6	negative regulation of neuron apoptotic process	GO:043524	9.5	NTF3, NTRK1, SNCA, NGF
7	pantothenate metabolic process	GO:015939	9.4	PANK1, PANK2
8	Ras protein signal transduction	GO:007265	9.4	IGF1, NTRK1, NGF
9	anti-apoptosis	GO:006916	9.3	IGF1, SNCA, RPS27A, NGF
10	phosphatidylinositol-mediated signaling	GO:048015	9.2	NGF, NTRK1, IGF1

Molecular functions related to neuroaxonal dystrophy according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	nerve growth factor binding	GO:048406	9.9	NTF3, NTRK1
2	pantothenate kinase activity	GO:004594	9.4	PANK1, PANK2