MCID: NRX001
MIFTS: 34

Neuroaxonal Dystrophy malady

Genetic diseases, Neuronal diseases, Rare diseases categories

Aliases & Classifications for Neuroaxonal Dystrophy

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Sources:
10Disease Ontology, 12DISEASES, 47Novoseek, 65UMLS, 36MeSH, 59SNOMED-CT
See all sources

Aliases & Descriptions for Neuroaxonal Dystrophy:

Name: Neuroaxonal Dystrophy 10 12
 
Neuroaxonal Dystrophies 47 65 36


Classifications:



External Ids:

Disease Ontology10 DOID:2367
SNOMED-CT59 230365004
MeSH36 D019150

Summaries for Neuroaxonal Dystrophy

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MalaCards based summary: Neuroaxonal Dystrophy, also known as neuroaxonal dystrophies, is related to neurodegeneration with brain iron accumulation 2b and infantile neuroaxonal dystrophy 1. An important gene associated with Neuroaxonal Dystrophy is NAGA (N-Acetylgalactosaminidase, Alpha-), and among its related pathways are Neurotrophic factor-mediated Trk receptor signaling and Integrated Pancreatic Cancer Pathway. Affiliated tissues include skin, brain and pineal, and related mouse phenotypes are muscle 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 54)
idRelated DiseaseScoreTop Affiliating Genes
1neurodegeneration with brain iron accumulation 2b30.4NAGA, PLA2G6
2infantile neuroaxonal dystrophy 110.9
3neuronitis10.6
4dementia10.4
5neuroaxonal dystrophy renal tubular acidosis10.4
6osteopetrosis and infantile neuroaxonal dystrophy10.4
7schindler disease10.4
8schindler disease, type i10.4
9cerebritis10.4
10neurodegeneration with brain iron accumulation 110.3
11axonal neuropathy10.3
12dystonia10.3
13neuronal ceroid lipofuscinosis10.3
14neuropathy10.3
15giant axonal neuropathy10.3
16cerebellar degeneration10.3
17ataxia10.3
18fetal akinesia deformation sequence10.1
19c6 deficiency10.1
20hypotonia, infantile, with psychomotor retardation and characteristic facies10.1
21pick disease10.1
22creutzfeldt-jakob disease10.1
23kanzaki disease10.1
24brain injury10.1
25niemann-pick disease10.1
26osteopetrosis10.1
27renal tubular acidosis10.1
28traumatic brain injury10.1
29biliary atresia10.1
30lateral sclerosis10.1
31tropical spastic paraparesis10.1
32zellweger syndrome10.1
33acute hemorrhagic encephalitis10.1
34scrapie10.1
35encephalitis10.1
36laryngitis10.1
37pancreatitis10.1
38polyneuropathy10.1
39cerebellar hypoplasia10.1
40diencephalic syndrome10.1
41hunter carpenter macdonald syndrome10.1
42spastic paraparesis10.1
43encephalopathy10.1
44spasticity10.1
45nonsyndromic 46,xx testicular disorders of sex development10.1PANK2, PLA2G6
46parkinson disease 410.0PLA2G6, SNCA
47optic atrophy plus syndrome9.9PANK2, SNCA
48graves disease 19.9PLA2G6, SNCA
49pancreatic colloid cystadenocarcinoma9.9IGF1, PLA2G6
50mucinoses9.9PANK2, 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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Drugs for Neuroaxonal Dystrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
IronapprovedPhase 3, Phase 29577439-89-623925
Synonyms:
02583_FLUKA
12310_ALDRICH
12310_RIEDEL
129048-51-7
14067-02-8
161135-39-3
190454-13-8
195161-83-2
199281-22-6
209309_ALDRICH
209309_SIAL
255637_ALDRICH
266213_ALDRICH
266256_ALDRICH
267945_ALDRICH
267953_ALDRICH
26Fe
338141_ALDRICH
356808_ALDRICH
356824_ALDRICH
356832_ALDRICH
39344-71-3
3ZhP
413054_ALDRICH
443783-52-6
44890_ALDRICH
44890_FLUKA
675141-17-0
70884-35-4
73135-38-3
7439-89-6
8011-79-8
8053-60-9
AC1L2N38
ATW 230
ATW 432
Ancor B
Ancor en 80/150
Armco iron
Atomel 28
Atomel 300M200
Atomel 500M
Atomel 95
Atomiron 44MR
Atomiron 5M
Atomiron AFP 25
Atomiron AFP 5
C00023
C3518_SIAL
C3518_SIGMA
CCRIS 1580
CHEBI:18248
CID23925
Carbonyl iron
Copy Powder CS 105-175
D007501
DB01592
DSP 1000
DSP 128B
DSP 135
DSP 135C
DSP 138
Dexiron
Diseases (animal), iron overload
Diseases, iron overload
EF 1000
EF 250
EFV 200/300
EFV 250
EFV 250/400
EINECS 231-096-4
Ed-In-Sol
 
Eisen
F 60 (metal)
FE
FT 3 (element)
Fe
Fe-40
Fe1+
Feraheme
Feronate
Ferretts
Ferrlecit
Ferro-Caps
Ferro-Time
Ferrousal
Ferrovac E
Ferrum
GS 6
HF 2 (element)
HL (iron)
HQ (metal)
HS (iron)
HS 4849
HSDB 604
Hemocyte
Hierro
Hoeganaes ATW 230
Hoeganaes EH
IRMM524A_FLUKA
IRMM524B_FLUKA
IRON
Infufer
Iron
Iron (Fe)
Iron (Fe1+)
Iron ion (Fe+)
Iron ion(1+)
Iron monocation
Iron standard for AAS
Iron(1+)
Iron(1+) ion
Iron(III) nitrate solution
Iron, elemental
Iron, ion (Fe1+)
Iron, ion (Fe1+) (8CI,9CI)
LOHA
LS-3196
MolPort-003-925-001
NC 100
PZh-1M3
PZh-2
PZh1M1
PZh2M
PZh2M1
PZh2M2
PZh3
PZh3M
PZh4M
PZhO
Remko
SUY-B 2
Siderol
UNII-E1UOL152H7
Venofer
Vitedyn-Slo
Yieronia
fer
ferrous ascorbate
ferrous fumarate
ferrous gluconate
ferrous glycine sulfate
ferrous iron
ferrous succinate
ferrous sulfate
hierro
2
DeferiproneapprovedPhase 3, Phase 24930652-11-02972
Synonyms:
1,2-Dimethyl-3-hydroxypyrid-4-one
3-Hydroxy-1,2-dimethyl-4(1H)-pyridone
APO-066
CP-20
DN-180-01-AF
Deferipron
 
Deferiprona
Deferiproni
Deferipronum
Deferypron
Dimethylhydroxypyridone
Défériprone
Ferriprox
PL-1

Interventional clinical trials:

idNameStatusNCT IDPhase
1A Two-arm Efficacy and Safety Study of Deferiprone in Patients With Pantothenate Kinase-associated Neurodegeneration (PKAN)Active, not recruitingNCT01741532Phase 3
2Long-term Deferiprone Treatment in Patients With Pantothenate Kinase-Associated NeurodegenerationEnrolling by invitationNCT02174848Phase 3
3Ferrochelating Treatment in Patients Affected by Neurodegeneration With Brain Iron Accumulation (NBIA)Active, not recruitingNCT00907283Phase 2
4NBIAready: Online Collection of Natural History Patient-reported Outcome MeasuresRecruitingNCT02587858
5Brain Perfusion in Pantothenate Kinase-associated Neurodegeneration (PKAN)RecruitingNCT01838018
6Compassionate Use of Deferiprone in Patients With PKANTemporarily not availableNCT02635841

Search NIH Clinical Center for Neuroaxonal Dystrophy


Cochrane evidence based reviews: Neuroaxonal Dystrophies

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, Pineal, Pancreatic islet, Skeletal muscle, Cortex, Retina

Animal Models for Neuroaxonal Dystrophy or affiliated genes

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MGI Mouse Phenotypes related to Neuroaxonal Dystrophy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.0IGF1, NTF3, NTRK1, PANK2, PLA2G6
2MP:00053897.6IGF1, NTF3, PANK2, PLA2G6, SNCA
3MP:00053787.3IGF1, NTF3, NTRK1, PANK2, PLA2G6, SNCA
4MP:00053867.3NALCN, NTF3, NTRK1, PANK2, PLA2G6, SNCA
5MP:00107686.9IGF1, NALCN, NTF3, NTRK1, PANK2, PLA2G6
6MP:00036316.6IGF1, NALCN, NTF3, NTRK1, PANK2, PLA2G6
7MP:00053766.6IGF1, NAGA, NALCN, NTF3, PANK2, PLA2G6

Publications for Neuroaxonal Dystrophy

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Articles related to Neuroaxonal Dystrophy:

(show top 50)    (show all 198)
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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Pathways related to Neuroaxonal Dystrophy according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1NTF3, NTRK1
28.6IGF1, NTF3, NTRK1
3
Show member pathways
8.2IGF1, NTF3, NTRK1, PLA2G6
4
Show member pathways
8.0IGF1, NTF3, NTRK1, SNCA

GO Terms for genes affiliated with Neuroaxonal Dystrophy

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

idNameGO IDScoreTop Affiliating Genes
1positive regulation of Ras protein signal transductionGO:00465799.7IGF1, NTRK1
2mechanoreceptor differentiationGO:00424909.7NTF3, NTRK1
3positive regulation of peptidyl-tyrosine phosphorylationGO:00507319.4IGF1, NTF3
4positive regulation of peptidyl-serine phosphorylationGO:00331389.3NTF3, SNCA
5nervous system developmentGO:00073998.6IGF1, NTF3, NTRK1
6negative regulation of neuron apoptotic processGO:00435248.5NTF3, NTRK1, SNCA

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

idNameGO IDScoreTop Affiliating Genes
1neurotrophin p75 receptor bindingGO:00051669.1NTF3, NTRK1

Sources for Neuroaxonal Dystrophy

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet