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

Drugs & Therapeutics for N Syndrome

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

Search CenterWatch for N Syndrome

Drug clinical trials:

Search ClinicalTrials for N Syndrome

Search NIH Clinical Center for N Syndrome

Search CenterWatch for N Syndrome

Genetic Tests for N Syndrome

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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, Liver, Bone, Lung, Salivary gland, Thyroid, Smooth muscle, Prostate, Cortex, Myeloid, Nk cells, B cells, 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:00053909.0GATA1, TRAF6, POLG, TYMP, GJB2, ABHD5
3MP:00107719.0GATA1, TRAF6, POLG, HPRT1, GJB2, ABHD5
4MP:00053858.6GTF2I, IRAK1, GATA1, TRAF6, POLG, HPRT1
5MP:00053808.6GNL3, GATA1, POLG, HPRT1, GJB2, GTF2IRD1
6MP:00053878.5IRAK1, GATA1, GAST, TRAF6, POLG, TYMP
7MP:00053848.3GNL3, IRAK1, GATA1, TRAF6, POLG, TYMP
8MP:00053787.9GNL3, GATA1, TRAF6, POLG, HPRT1, GJB2
9MP:00107687.7GAST, GATA1, IRAK1, GNL3, TRAF6, POLG

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
Re: Risk factors associated with preterm delivery after fetoscopic laser ablation for twin-twin transfusion syndrome. R. Papanna, D. Block-Abraham, L. K. Mann, I. A. Buhimschi, M. Bebbington, E. Garcia, N. Kahlek, C. Harman, A. Johnson, A. Baschat and K. J. Moise Jr. Ultrasound Obstet Gynecol 2014; 43: 48-53. (24395686)
2014
2
High-dose N-acetylcysteine in chronic obstructive pulmonary disease, prone positioning in acute respiratory distress syndrome, and continuous positive airway pressure and exhaled nitric oxide in obstructive sleep apnea. (24428648)
2014
3
Yunis-VarA^n syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase. (23623387)
2013
4
A putative polypeptide N-acetylgalactosaminyltransferase/Williams-Beuren syndrome chromosome region 17 (WBSCR17) regulates lamellipodium formation and macropinocytosis. (22787146)
2012
5
A novel nonsense mutation in the N-terminal domain of the androgen receptor gene causes complete androgen insensitivity syndrome. (22943730)
2012
6
Antibodies against the N-terminal domain of annexin A2 in antiphospholipid syndrome. (22939813)
2012
7
Disturbed myocardial connexin 43 and N-cadherin expressions in hypoplastic left heart syndrome and borderline left ventricle. (22405962)
2012
8
Wiskott-Aldrich syndrome protein (WASp) and N-WASp are involved in the regulation of NK-cell migration upon NKG2D activation. (22585739)
2012
9
Neuronal Wiskott-Aldrich syndrome protein (N-WASP) is critical for formation of I+-smooth muscle actin filaments during myofibroblast differentiation. (22886502)
2012
10
IgG fc N-glycosylation changes in Lambert-Eaton myasthenic syndrome and myasthenia gravis. (20672848)
2011
11
Hemolysis and hemolytic uremic syndrome following five-fold N-acetylcysteine overdose. (21970774)
2011
12
Snapback primer genotyping of the Gilbert syndrome UGT1A1 (TA)(n) promoter polymorphism by high-resolution melting. (21771946)
2011
13
Analysis of N- and O-linked protein glycosylation in children with Prader-Willi syndrome. (20825553)
2010
14
Opsoclonus-myoclonus syndrome in anti-N-methyl-D-aspartate receptor encephalitis. (20065141)
2010
15
Cilnidipine suppresses podocyte injury and proteinuria in metabolic syndrome rats: possible involvement of N-type calcium channel in podocyte. (20411599)
2010
16
N-terminal pro-brain natriuretic peptide in cases with metabolic syndrome and its relationship with components of metabolic syndrome and left ventricular mass index. (19615987)
2009
17
A recombinant N-terminal domain fully restores deactivation gating in N-truncated and long QT syndrome mutant hERG potassium channels. (19651618)
2009
18
Evaluation of association between the CYP11alpha promoter pentannucleotide (TTTTA)n polymorphism and polycystic ovarian syndrome among Han Chinese women. (19300392)
2009
19
Analysis of N-terminal pro-B-type natriuretic peptide in patients with acute coronary syndromes. (19387249)
2009
20
Androgen receptor gene CAG(n) trinucleotide repeats polymorphism in Chinese women with polycystic ovary syndrome. (18483883)
2008
21
Studies on toxic oil syndrome: development of an enzyme-linked immunosorbent assay for 3-(N-phenylamino)propane-1,2-diol in human urine. (18418587)
2008
22
Androgen receptor gene (CAG)n polymorphism in patients with polycystic ovary syndrome. (18555222)
2008
23
N-acetyl cysteine vs. metformin in treatment of clomiphene citrate-resistant polycystic ovary syndrome: a prospective randomized controlled study. (17335818)
2007
24
Diagnostic potential of serum N-terminal pro-B-type brain natriuretic peptide level in detection of cardiac wall stress in women with polycystic ovary syndrome: a cross-sectional comparison study. (17855407)
2007
25
A microsatellite polymorphism (tttta)n in the promoter of the CYP11a gene in Chinese women with polycystic ovary syndrome. (16764871)
2006
26
Developmental expression of neural Wiskott-Aldrich syndrome protein (N-WASP) and WASP family verprolin-homologous protein (WAVE)-related proteins in postnatal rat cerebral cortex and hippocampus. (17049400)
2006
27
Study on the (TAAAA)n repeat polymorphism in sex hormone-binding globulin gene and the SHBG serum levels in putative association with the glucose metabolic status of Chinese patients suffering from polycystic ovarian syndrome in Shandong province]. (16331562)
2005
28
On the generation and outcome of 3-(N-phenylamino)propane-1,2-diol derivatives in deodorized model oils related to toxic oil syndrome. (15833026)
2005
29
Microsatellite polymorphism of (tttta) n in the promoter of CYP11a gene in Chinese women with polycystic ovary syndrome]. (16409859)
2005
30
N-acetyl-cysteine is a novel adjuvant to clomiphene citrate in clomiphene citrate-resistant patients with polycystic ovary syndrome. (15705376)
2005
31
Role of the pentanucleotide (tttta)n polymorphisms of Cyp11alpha gene in the pathogenesis of hyperandrogenism in Chinese women with polycystic ovary syndrome. (16116976)
2005
32
Induction of c-fos messenger RNA by 3-(N-phenylamino)-1,2-propanediol esters, compounds related to Toxic Oil Syndrome. (15501433)
2004
33
Significant association of the arylalkylamine N-acetyltransferase (AA-NAT) gene with delayed sleep phase syndrome. (12736803)
2003
34
Association of the (TAAAA)n repeat polymorphism in the sex hormone-binding globulin (SHBG) gene with polycystic ovary syndrome and relation to SHBG serum levels. (14671199)
2003
35
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): a Y210C mutation causes either altered protein handling or altered protein function of N-acetylgalactosamine 4-sulfatase at multiple points in the vacuolar network. (11939792)
2002
36
A new case of alpha-N-acetylgalactosaminidase deficiency with angiokeratoma corporis diffusum, with Meniere's syndrome and without mental retardation. (11251574)
2001
37
N-terminal RAG1 frameshift mutations in Omenn's syndrome: internal methionine usage leads to partial V(D)J recombination activity and reveals a fundamental role in vivo for the N-terminal domains. (11121059)
2000
38
Increased N-linked glycosylation leading to oversialylation of monomeric immunoglobulin A1 from patients with SjAPgren's syndrome. (10736100)
2000
39
N-acetyl-beta-D-glucosaminidase and beta2-microglobulin: prognostic markers in idiopathic nephrotic syndrome. (10203005)
1999
40
D-mannose and N-acetylglucosamine moieties and their respective binding sites in salivary glands of SjAPgren's syndrome. (10229404)
1999
41
Down-regulation of non-L-, non-N-type (Q-like) Ca2+ channels by Lambert-Eaton myasthenic syndrome (LEMS) antibodies in rat insulinoma RINm5F cells. (8654565)
1996
42
Antigens associated with N- and L-type calcium channels in Lambert-Eaton myasthenic syndrome. (7891097)
1995
43
Nephrotic syndrome associated with N-hydroxyureas, inhibitors of 5-lipoxygenase. (8526744)
1995
44
1,1'-Ethylidenebis[L-tryptophan], a contaminant implicated in L-tryptophan eosinophilia myalgia syndrome, suppresses mRNA expression of hypothalamic corticotropin-releasing hormone in Lewis (LEW/N) rat brain. (8528886)
1994
45
De novo truncation of chromosome 16p and healing with (TTAGGG)n in the alpha-thalassemia/mental retardation syndrome (ATR-16). (8460633)
1993
46
Ehlers Danlos syndrome type VIIB. Incomplete cleavage of abnormal type I procollagen by N-proteinase in vitro results in the formation of copolymers of collagen and partially cleaved pNcollagen that are near circular in cross-section. (1577745)
1992
47
Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region. (1303277)
1992
48
Activity of alanine aminopeptidase, beta-glucuronidase and N-acetyl-beta-d-glucosaminidase in urine of children with nephrotic syndrome]. (1688276)
1991
49
Urinary N-acetyl-beta-D-glucosaminidase isoenzyme activity as measured by fast protein liquid chromatography in patients with nephrotic syndrome. (2297897)
1990
50
Studies of malformation syndromes in man. XXVII. The N syndrome, a &quot;new&quot; multiple congenital anomaly-mental retardation syndrome. (4216437)
1974

Genetic Variations for N Syndrome

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Expression for genes affiliated with N Syndrome

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

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:0058119.3ABHD5, TRAF6, IRAK1, CKAP4
2nucleolusGO:0057308.3GATA1, TRAF6, POLA1, KRT7, GTF2IRD1, GTF2I

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

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

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