MCID: NRX001
MIFTS: 30

Neuroaxonal Dystrophy malady

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Neuroaxonal Dystrophy

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Aliases & Descriptions for Neuroaxonal Dystrophy:

Name: Neuroaxonal Dystrophy 10 12
 
Neuroaxonal Dystrophies 47 36 65

Classifications:



External Ids:

Disease Ontology10 DOID:2367
SNOMED-CT59 230365004
MeSH36 D019150
UMLS65 C0338473

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 Neural Stem Cell Differentiation Pathways and Lineage-specific Markers and Neurotrophic factor-mediated Trk receptor signaling. Affiliated tissues include brain, bone and kidney, and related mouse phenotypes are reproductive system and muscle.

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 161)
idRelated DiseaseScoreTop Affiliating Genes
1neurodegeneration with brain iron accumulation 2b32.1NAGA, PLA2G6
2infantile neuroaxonal dystrophy 112.8
3neuroaxonal dystrophy renal tubular acidosis12.4
4osteopetrosis and infantile neuroaxonal dystrophy12.4
5schindler disease, type i11.7
6neurodegeneration with brain iron accumulation 111.5
7karak syndrome11.5
8schindler disease11.5
9hunter carpenter macdonald syndrome11.4
10prostatitis10.5
11hypotonia, infantile, with psychomotor retardation and characteristic facies10.5
12kanzaki disease10.5
13prostate cancer10.3
14obesity10.3
15leukemia10.3
16schizophrenia10.2
17lung cancer10.2
18acne10.2
19arthritis10.2
20cholangiocarcinoma10.2
21gastric cancer10.2
22hepatitis10.2
23liver cirrhosis10.2
24liver disease10.2
25temporal lobe epilepsy10.2
26cutaneous lupus erythematosus10.2
27urethritis10.2
28dermatitis10.2
29retinitis10.2
30pyoderma10.2
31lupus erythematosus10.2
32urethral diverticulum10.2
33endotheliitis10.2
34rheumatoid arthritis10.1
35neuroblastoma10.1
36parathyroid carcinoma10.1
37hiv-110.1
38spondyloepimetaphyseal dysplasia10.1
39breast cancer10.1
40bacteremia10.1
41hepatitis c virus10.1
42achondroplasia10.1
43hypochondroplasia10.1
44hyperprolactinemia10.1
45osteoporosis10.1
46psoriatic arthritis10.1
47wolff-parkinson-white syndrome10.1
48citrullinemia10.1
49kawasaki disease10.1
50hypophosphatemic rickets10.1

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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Drugs for Neuroaxonal Dystrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
IronapprovedPhase 3, Phase 210217439-89-623925
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 25330652-11-02972
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
3Pharmaceutical SolutionsPhase 3, Phase 27004
4Chelating AgentsPhase 3, Phase 2667
5Iron Chelating AgentsPhase 3, Phase 2178

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 PKANAvailableNCT02635841

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
Brain, Bone, Kidney, Liver, Ovary, Lung, Breast

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:00053898.1IGF1, NTF3, PANK2, PLA2G6, SNCA
2MP:00053698.0IGF1, NTF3, NTRK1, PANK2, PLA2G6
3MP:00053867.7NALCN, NTF3, NTRK1, PANK2, PLA2G6, SNCA
4MP:00053787.4IGF1, NTF3, NTRK1, PANK2, PLA2G6, SNCA
5MP:00053767.2IGF1, NAGA, NALCN, NTF3, PANK2, PLA2G6
6MP:00036317.1IGF1, NALCN, NTF3, NTRK1, PANK2, PLA2G6
7MP:00107687.0IGF1, NALCN, NTF3, NTRK1, PANK2, PLA2G6

Publications for Neuroaxonal Dystrophy

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Articles related to Neuroaxonal Dystrophy:

(show top 50)    (show all 199)
idTitleAuthorsYear
1
From bench to bed and back again: phage therapy of childhood Escherichia coli diarrhea. (27197768)
2016
2
Comparison of FDG PET/CT and MRI in lymph node staging of endometrial cancer. (26546334)
2015
3
Favourable renal survival in paediatric microscopic polyangiitis: efficacy of a novel treatment algorithm. (25758433)
2015
4
Tobacco smoke induces production of chemokine CCL20 to promote lung cancer. (25864589)
2015
5
Cdx2 polymorphism affects the activities of vitamin D receptor in human breast cancer cell lines and human breast carcinomas. (25849303)
2015
6
The pro-apoptotic BH3-only protein Bim interacts with components of the translocase of the outer mitochondrial membrane (TOM). (25875815)
2015
7
Intervertebral disc disease in Dachshunds radiographically screened for intervertebral disc calcifications. (25523328)
2014
8
Cognitive and Affective Assessments of Multiple Sclerosis (MS) and Neuromyelitis Optica (NMO) Patients Utilizing Computerized Touch Panel-type Screening Tests. (25318789)
2014
9
Elevated plasma thrombomodulin and angiopoietin-2 predict the development of acute kidney injury in patients with acute myocardial infarction. (24886544)
2014
10
A novel function for the survival motoneuron protein as a translational regulator. (23136128)
2013
11
Relationship of body mass index and dental caries with oral health related quality of life among adolescents of Udupi district, South India. (23595623)
2013
12
Changes in bone matrix mineralization after growth hormone treatment in children and adolescents with chronic kidney failure treated by dialysis: a paired biopsy study. (23465957)
2013
13
Transitional cell carcinoma of the ovary is related to high-grade serous carcinoma and is distinct from malignant brenner tumor. (23018212)
2012
14
Effect of Helicobacter pylori eradication according to the IL-8-251 polymorphism in Koreans. (23091318)
2012
15
Relationship between MAP3K5 and Epstein-Barr virus-encoded miR-BART22 expression in nasopharyngeal carcinoma]. (21764682)
2011
16
More than meets the eye in correcting refractive error in low income countries. (21937539)
2011
17
Leukemia-initiating cells in human T-lymphoblastic leukemia exhibit glucocorticoid resistance. (20810926)
2010
18
Ameloblastin promotes bone growth by enhancing proliferation of progenitor cells and by stimulating immunoregulators. (20831578)
2010
19
Primary monophasic synovial sarcoma presenting as a benign neurogenic tumor: case review and review of the literature. (20727311)
2010
20
Functional characterization of N-terminally GFP-tagged GLP-1 receptor. (19859570)
2009
21
IGF-1 induces SREBP-1 expression and lipogenesis in SEB-1 sebocytes via activation of the phosphoinositide 3-kinase/Akt pathway. (17989724)
2008
22
Association of single nucleotide polymorphism at interleukin-10 gene 1082 nt with the risk of gastric cancer in Chinese population]. (18753053)
2008
23
Glucose sensor based on nano-baskets of tin oxide templated in porous alumina by plasma enhanced CVD. (18395436)
2008
24
Induction of the NAD(P)H:quinone oxidoreductase 1 by ketoconazole and itraconazole: a mechanism of cancer chemoprotection. (17923278)
2007
25
Gallbladder small cell carcinoma Xenograft established by serial transplantation in nude mice. (16475682)
2006
26
Multimodality therapy for Pancoast tumor. (16955087)
2006
27
Two novel activating mutations in the Wiskott-Aldrich syndrome protein result in congenital neutropenia. (16804117)
2006
28
HLA-B*5801 allele as a genetic marker for severe cutaneous adverse reactions caused by allopurinol. (15743917)
2005
29
Typhoid fever and viral hepatitis in a G6PD deficient individual. (16599045)
2005
30
Identification and characterization of a putative cyclic nucleotide-gated channel, CNG-1, in C. elegans. (15750353)
2005
31
Fabry disease in mice is associated with age-dependent susceptibility to vascular thrombosis. (12538729)
2003
32
Delayed puberty and primary amenorrhea associated with a novel mutation of the human follicle-stimulating hormone receptor: clinical, histological, and molecular studies. (12915623)
2003
33
Effect of platelet factor 4 on the adhesive property of leukemic CD34+ KG1a cell]. (12905794)
2002
34
Structure of a human insulin peptide-HLA-DQ8 complex and susceptibility to type 1 diabetes. (11376336)
2001
35
Laser in situ keratomileusis and photorefractive keratectomy for residual refractive error after phakic intraocular lens implantation. (11383760)
2001
36
Growth hormone - hormone replacement for the somatopause? (10971102)
2000
37
Biophysical properties and molecular characterization of amiloride-sensitive sodium channels in A549 cells. (10749763)
2000
38
Interaction of the Ras-related protein associated with diabetes rad and the putative tumor metastasis suppressor NM23 provides a novel mechanism of GTPase regulation. (10611312)
1999
39
Syntaxin 1A interacts with multiple exocytic proteins to regulate neurotransmitter release in vivo. (10433270)
1999
40
Expression of CD44 splice variants in metastatic and non-metastatic mouse tumour cell lines. (8905400)
1996
41
Natural history of paroxysmal nocturnal hemoglobinuria. (7566002)
1995
42
Kinetic characteristics of ZENECA ZD5522, a potent inhibitor of human and bovine lens aldose reductase. (7748183)
1995
43
Requirements for activation of the herpes simplex virus glycoprotein C promoter in vitro by the viral regulatory protein ICP4. (7966586)
1994
44
Serum osteocalcin in metabolic bone diseases: what is its real significance? (8514983)
1993
45
The 3-M syndrome: risk of intracerebral aneurysm? (1619640)
1992
46
The v-erbA oncogene requires cooperation with tyrosine kinases to arrest erythroid differentiation induced by ligand-activated endogenous c-erbA and retinoic acid receptor. (1347913)
1992
47
Cerebral infarction and familial protein S deficiency. (2148233)
1990
48
Atypical polypoid adenomyoma of the uterus. An immunohistochemical study of a case. (2475953)
1989
49
Linkage studies in a new X-linked myopathy, suggesting exclusion of DMD locus and tentative assignment to distal Xq. (2892402)
1988
50
Effects of (H + ), (Na + ), (K + ) and certain membrane-active drugs on glycolysis, motility, and ATP synthesis by human spermatozoa. (4349855)
1973

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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GO Terms for genes affiliated with Neuroaxonal Dystrophy

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1response to nutrient levelsGO:00316679.8IGF1, NTRK1
2phosphatidylinositol-mediated signalingGO:00480159.8IGF1, NTRK1
3memoryGO:00076139.5IGF1, PLA2G6
4phospholipid metabolic processGO:00066449.3PLA2G6, SNCA
5transmembrane receptor protein tyrosine kinase signaling pathwayGO:00071699.3NTF3, NTRK1
6positive regulation of peptidyl-tyrosine phosphorylationGO:00507319.2IGF1, NTF3
7negative regulation of neuron apoptotic processGO:00435249.1NTF3, SNCA
8negative regulation of neuron deathGO:19012159.1IGF1, NTRK1, SNCA
9positive regulation of peptidyl-serine phosphorylationGO:00331389.0NTF3, SNCA
10positive regulation of cell migrationGO:00303358.8IGF1, NTF3

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