NSX
MCID: NSY001
MIFTS: 55

N Syndrome (NSX) malady

Ear diseases, Fetal diseases, Cancer diseases, Neuronal diseases categories

Summaries for N Syndrome

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46OMIM, 32MalaCards
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MalaCards: N Syndrome, also known as mental retardation, malformations, chromosome breakage, and development of t-cell leukemia, is related to netherton syndrome and mental retardation, and has symptoms including intellectual deficit/mental/psychomotor retardation/learning disability, mild visual loss/impaired visual acuity and sensorineural deafness/hearing loss. An important gene associated with N Syndrome is MIR146A (microRNA 146a), and among its related pathways are IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation and Purine metabolism. The compounds trifluorothymidine and didanosine have been mentioned in the context of this disorder. Affiliated tissues include t cells, brain and ovary, and related mouse phenotypes are pigmentation and skeleton.

Description from OMIM:46 310465

Aliases & Classifications for N Syndrome

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8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 22GTR, 48Orphanet, 60UMLS, 46OMIM, 35MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases, Cancer diseases
Anatomical: Ear diseases, Neuronal diseases


Characteristics (Orphanet epidemiological data):

48
n syndrome:
Inheritance: X-linked recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

n syndrome 8 9 42 22 48 60
mental retardation, malformations, chromosome breakage, and development of t-cell leukemia 42
nsx 42


External Ids:

Disease Ontology8 DOID:0050769
OMIM46 310465
MESH via Orphanet35 C536108
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet61 C2936859

Related Diseases for N Syndrome

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Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to N Syndrome:



Diseases related to n syndrome

Clinical Features for N Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

310465

Symptoms:

48 (show all 11)
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • mild visual loss/impaired visual acuity
  • sensorineural deafness/hearing loss
  • anomalies of ear and hearing
  • x-linked recessive inheritance
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • chromosome breakage
  • acute leukemia
  • hypospadias/epispadias/bent penis
  • megalocornea
  • hypertonia/spasticity/rigidity/stiffness

Drugs & Therapeutics for N Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for N Syndrome

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Genetic Tests for N Syndrome

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Sources:
22GTR
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Genetic tests related to N Syndrome:

id Genetic test Affiliating Genes
1 N Syndrome22

Anatomical Context for N Syndrome

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32MalaCards
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MalaCards organs/tissues related to N Syndrome:

32
T cells, Brain, Ovary, Testes, Heart, Endothelial, Bone, Liver, B cells, Thyroid, Smooth muscle, Salivary gland, Lung, Prostate, Nk cells, Myeloid, Cortex, Skin

Animal Models for N Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to N Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.8GTF2IRD1, POLG, TRAF6
2MP:00053909.0GTF2IRD1, ABHD5, GJB2, TYMP, POLG, TRAF6
3MP:00107719.0GTF2IRD1, ABHD5, GJB2, HPRT1, POLG, TRAF6
4MP:00053858.6GTF2I, IRAK1, GATA1, TRAF6, POLG, HPRT1
5MP:00053808.6GNL3, GATA1, POLG, HPRT1, GJB2, GTF2IRD1
6MP:00053878.5GATA1, GJB2, IRAK1, HPRT1, TYMP, POLG
7MP:00053848.3IRAK1, GATA1, TRAF6, POLG, TYMP, GNL3
8MP:00053787.9GTF2I, GNL3, GATA1, TRAF6, POLG, HPRT1
9MP:00107687.7ABHD5, HPRT1, POLG, TRAF6, GAST, GATA1

Publications for N Syndrome

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50PubMed
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Articles related to N Syndrome:

(show top 50)    (show all 223)
idTitleAuthorsYear
1
Novel MBTPS2 missense mutation in the N-terminus transmembrane domain in a patient with ichthyosis follicularis, alopecia, and photophobia syndrome. (23551428)
2013
2
Neural Wiskott-Aldrich syndrome protein (N-WASP)-mediated p120-catenin interaction with Arp2-Actin complex stabilizes endothelial adherens junctions. (23212915)
2013
3
Potential cross-reactivity of severe acute respiratory syndrome-associated coronavirus (SARS-CoV) nucleocapsid (N)-based IgG ELISA assay for plasma samples from HIV-1 positive intravenous drug users (IDUs). (22983073)
2012
4
An atypical facial appearance and growth pattern in a child with Cornelia de Lange Syndrome: an intragenic deletion predicting loss of the N-terminal region of NIPBL. (21934607)
2012
5
Wiskott-Aldrich syndrome protein (WASP) and N-WASP are critical for peripheral B-cell development and function. (22411869)
2012
6
The Werner syndrome protein promotes CAG/CTG repeat stability by resolving large (CAG)(n)/(CTG)(n) hairpins. (22787159)
2012
7
Discerning non-disjunction in Down syndrome patients by means of GluK1-(AGAT)(n) and D21S2055-(GATA)(n) microsatellites on chromosome 21. (23162297)
2012
8
Prognostic value of N-terminal pro-B-type natriuretic peptide in patients with acute coronary syndromes undergoing left main percutaneous coronary intervention. (21891968)
2011
9
The (TAAAA)n polymorphism of the SHBG gene in men with the metabolic syndrome. (20690069)
2011
10
hERG1a N-terminal eag domain-containing polypeptides regulate homomeric hERG1b and heteromeric hERG1a/hERG1b channels: a possible mechanism for long QT syndrome. (22124116)
2011
11
Dynamic changes in N-terminal pro-brain natriuretic peptide in acute coronary syndromes treated with percutaneous coronary intervention: a marker of ischemic burden, reperfusion and outcome. (20441480)
2010
12
Identification and characterization of a novel homozygous deletion in the alpha-N-acetylglucosaminidase gene in a patient with Sanfilippo type B syndrome (mucopolysaccharidosis IIIB). (20138557)
2010
13
Evaluation of the association between the CYP19 Tetranucleotide (TTTA)n polymorphism and polycystic ovarian syndrome(PCOS) in Han Chinese women. (20588246)
2010
14
Words of wisdom. Re: Alfuzosin and symptoms of chronic prostatitis-chronic pelvic pain syndrome. Nickel JC, Krieger JN, McNaughton-Collins M, et al; Chronic Prostatitis Collaborative Research Network. N Engl J Med 2008;359:2663-73. (19995516)
2009
15
Relation between N-terminal pro-B-type natriuretic peptide and coronary plaque components in patients with acute coronary syndrome: virtual histology-intravascular ultrasound analysis. (19838110)
2009
16
Intra-cornu ammonis 1 administration of the human immunodeficiency virus-1 protein trans-activator of transcription exacerbates the ethanol withdrawal syndrome in rodents and activates N-methyl-D-aspartate glutamate receptors to produce persisting spatial learning deficits. (19619615)
2009
17
N-acetylcysteine effects on genotoxic and oxidative stress parameters in cirrhotic rats with hepatopulmonary syndrome. (18341514)
2008
18
In utero onset of long QT syndrome with atrioventricular block and spontaneous or lidocaine-induced ventricular tachycardia: compound effects of hERG pore region mutation and SCN5A N-terminus variant. (18848812)
2008
19
Without its N-finger, the main protease of severe acute respiratory syndrome coronavirus can form a novel dimer through its C-terminal domain. (18305043)
2008
20
In vitro bioactivation of 3-(N-phenylamino)propane-1,2-diol by human and rat liver microsomes and recombinant P450 enzymes. Implications for toxic oil syndrome. (17672514)
2007
21
Proton MR spectroscopy: higher right anterior cingulate N-acetylaspartate/choline ratio in Asperger syndrome compared with healthy controls. (17846198)
2007
22
Comparison of effectiveness of whole viral, N and N199 proteins by ELISA for the rapid diagnosis of severe acute respiratory syndrome coronavirus. (18167201)
2007
23
No association between the microsatellite polymorphism (TTTTA)n in the promoter of the CYP11A gene and ovarian hyperstimulation syndrome. (16391898)
2006
24
Effects of nebulized N(G)-nitro-L-arginine methyl ester in patients with hepatopulmonary syndrome. (16628648)
2006
25
Synthesis and stability studies of the glutathione and N-acetylcysteine adducts of an iminoquinone reactive intermediate generated in the biotransformation of 3-(N-phenylamino)propane-1,2-diol: implications for toxic oil syndrome. (16300381)
2005
26
Management of non-ST-segment-elevation acute coronary syndromes in Spain. The DESCARTES (DescripciA^n del Estado de los SA-ndromes Coronarios Agudos en un Registro Temporal ESpaA+ol) study]. (15766446)
2005
27
Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): results after 48 weeks in a phase 2 open-label clinical study of recombinant human N-acetylgalactosamine 4-sulfatase. (15930196)
2005
28
RECQL4, mutated in the Rothmund-Thomson and RAPADILINO syndromes, interacts with ubiquitin ligases UBR1 and UBR2 of the N-end rule pathway. (15317757)
2004
29
Sequential interaction of actin-related proteins 2 and 3 (Arp2/3) complex with neural Wiscott-Aldrich syndrome protein (N-WASP) and cortactin during branched actin filament network formation. (12732638)
2003
30
An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome. (12915477)
2003
31
Structure of the N-WASP EVH1 domain-WIP complex: insight into the molecular basis of Wiskott-Aldrich Syndrome. (12437929)
2002
32
Order of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-alpha1(V) N-propeptides and Ehlers-Danlos syndrome type I. (12145749)
2002
33
Human brain cytosolic histamine-N-methyltransferase is decreased in Down syndrome and increased in Pick's disease. (11880199)
2002
34
Synaptosomal proteins, beta-soluble N-ethylmaleimide-sensitive factor attachment protein (beta-SNAP), gamma-SNAP and synaptotagmin I in brain of patients with Down syndrome and Alzheimer's disease. (11244216)
2001
35
Interactions between the Werner syndrome helicase and DNA polymerase delta specifically facilitate copying of tetraplex and hairpin structures of the d(CGG)n trinucleotide repeat sequence. (11279038)
2001
36
A novel neural Wiskott-Aldrich syndrome protein (N-WASP) binding protein, WISH, induces Arp2/3 complex activation independent of Cdc42. (11157975)
2001
37
Age-specific N-methyl-D-aspartate-induced seizures: perspectives for the West syndrome model. (10528930)
1999
38
Identification of 12 novel mutations in the alpha-N- acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB). (9832037)
1998
39
No concomitant occurrence of the N-ras and p53 gene mutations in myelodysplastic syndromes. (9177441)
1997
40
A point mutation creating an extra N-glycosylation site in fibrillin-1 results in neonatal Marfan syndrome. (8884270)
1996
41
Autoreactive T-cells in Goodpasture's syndrome recognize the N-terminal NC1 domain on alpha 3 type IV collagen. (8691734)
1996
42
Carbohydrate-deficient glycoprotein syndrome type II. An autosomal recessive N-acetylglucosaminyltransferase II deficiency different from typical hereditary erythroblastic multinuclearity, with a positive acidified-serum lysis test (HEMPAS). (7607254)
1995
43
Prenatal diagnosis of fragile X syndrome: (CGG)n expansion and methylation of chorionic villus samples. (8559749)
1995
44
Unusual (CGG)n expansion and recombination in a family with fragile X and DiGeorge syndrome. (7783179)
1995
45
On the catastrophic antiphospholipid syndrome. A comment on the editorial by AlarcA^n-Segovia. (8070172)
1994
46
Expression of lacto-N-fucopentaose III (CD15)- and sialyl-Lewis X-bearing molecules and their functional properties in eosinophils from patients with the idiopathic hypereosinophilic syndrome. (7835953)
1994
47
Molecular analysis of the (CGG)n expansion in the FMR-1 gene in 59 Spanish fragile X syndrome families. (7927336)
1994
48
N-terminal sequence of prion protein is also integrated into kuru plaques in patients with Gerstmann-StrAoussler syndrome. (1677605)
1991
49
Identification of amyloid A protein in a sporadic Muckle-Wells syndrome. N-terminal amino acid sequence after isolation from formalin-fixed tissue. (6406764)
1983
50
A comparison of the major platelet membrane glycoproteins from Bernard-Soulier syndrome with normals after radiolabelling of sialic acid or terminal galactose/N-acetylgalactosamine residues. (7385102)
1980

Genetic Variations for N Syndrome

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Expression for genes affiliated with N Syndrome

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with N Syndrome

Search GEO for disease gene expression data for N Syndrome.

Pathways for genes affiliated with N Syndrome

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Sources:
53Reactome, 37NCBI BioSystems Database, 29KEGG, 12EMD Millipore
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Compounds for genes affiliated with N Syndrome

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59Tocris Bioscience, 44Novoseek, 11DrugBank, 49PharmGKB, 24HMDB
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Compounds related to N Syndrome according to GeneCards/GeneDecks:

(show all 21)
idCompoundScoreTop Affiliating Genes
1trifluorothymidine59 4411.2HPRT1, TYMP
2didanosine44 1111.2DGUOK, HPRT1, POLG
3cidofovir44 1111.2POLG, TYMP
4clofarabine44 1111.2POLA1, DGUOK
5abacavir44 49 1112.1POLG, HPRT1
6nelarabine44 1111.1DGUOK, POLA1
7purine nucleoside4410.1DGUOK, TYMP, HPRT1
8deoxycytidine44 2411.1DGUOK, HPRT1, TYMP
9dttp4410.1TYMP, POLG
10tab-14410.0TRAF6, IRAK1
11dctp44 2411.0DGUOK, POLG, POLA1
12deoxyguanosine44 2411.0HPRT1, DGUOK, POLG, TYMP
13tab-2449.9TRAF6, IRAK1
14zidovudine44 1110.9HPRT1, TYMP, POLG
15nucleoside449.9HPRT1, DGUOK, POLG, TYMP
16thymidylate449.9TYMP, POLG, DGUOK, HPRT1
17dgtp44 2410.8HPRT1, POLA1, POLG, DGUOK
18purine44 2410.8DGUOK, TYMP, HPRT1
19folate449.6HPRT1, TYMP, GAST, GATA1
20thymidine44 2410.3GJB2, HPRT1, TYMP, POLG, GAST, DGUOK
21serine448.2GATA1, GTF2I, HPRT1, TRAF6, GAST, TYMP

GO Terms for genes affiliated with N Syndrome

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16Gene Ontology
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Cellular components related to N Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lipid particleGO:0058119.3CKAP4, IRAK1, TRAF6, ABHD5
2nucleolusGO:0057308.3GNL3, GATA1, TRAF6, POLA1, KRT7, GTF2IRD1

Biological processes related to N Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1interleukin-1-mediated signaling pathwayGO:07049810.0IRAK1, TRAF6
2activation of NF-kappaB-inducing kinase activityGO:00725010.0IRAK1, TRAF6
3purine-containing compound salvageGO:04310110.0DGUOK, HPRT1
4nucleobase-containing small molecule metabolic processGO:0550869.9DGUOK, TYMP, HPRT1
5eye photoreceptor cell developmentGO:0424629.8RPGR, RPGRIP1

Molecular functions related to N Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:0055157.1GTF2I, RPGRIP1, GNL3, IRAK1, GATA1, GAST

Products for genes affiliated with N Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for N Syndrome

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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