NSX
MCID: NSY001
MIFTS: 57

N Syndrome (NSX) malady

Ear, Fetal, Cancer, Neuronal categories

Summaries for N Syndrome

Sources:
47OMIM, 33MalaCards
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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 retinitis pigmentosa 3, and has symptoms including megalocornea, mild visual loss/impaired visual acuity and anomalies of ear and hearing. An important gene associated with N Syndrome is POLA1 (polymerase (DNA directed), alpha 1, catalytic subunit), and among its related pathways are IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation and Nucleotide Metabolism. The compounds clofarabine and nelarabine have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, whole blood and lymph node, and related mouse phenotypes are pigmentation and skeleton.

Description from OMIM:47 310465

Aliases & Classifications for N Syndrome

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 22GTR, 47OMIM, 10DISEASES, 49Orphanet, 61UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
n syndrome:
Inheritance: X-linked recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

n syndrome 8 9 43 22 47 10 49 61
mental retardation, malformations, chromosome breakage, and development of t-cell leukemia 43
nsx 43


External Ids:

Disease Ontology8 DOID:0050769
OMIM47 310465
MESH via Orphanet36 C536108
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet62 C2936859

Related Diseases for N Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

Graphical network of the top 20 diseases related to N Syndrome:



Diseases related to n syndrome

Clinical Features for N Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

310465

Clinical synopsis from OMIM:

310465

Symptoms:

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

Drugs & Therapeutics for N Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

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

Sources:
22GTR
See all sources

Genetic tests related to N Syndrome:

id Genetic test Affiliating Genes
1 N Syndrome22

Anatomical Context for N Syndrome

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to N Syndrome:

33
Bone marrow, Whole blood, Lymph node, Spleen, Thymus, Brain, Cortex, Cerebellum, Retina, Spinal cord, Heart, Smooth muscle, Skeletal muscle, Small intestine, Colon, Adipocyte, Kidney, Liver, Lung, Pancreas, Thyroid, Salivary gland, Adrenal gland, Breast, Skin, Ovary, Uterus, Placenta, Prostate, Testis, Cervix, Tonsil, Myeloid, Monocytes, Nk cells, T cells, B lymphoblasts, B cells, Endothelial, Fetal brain, Prefrontal cortex, Parietal lobe, Temporal lobe, Occipital lobe, Ciliary ganglion, Globus pallidus, Olfactory bulb, Thalamus, Hypothalamus, Subthalamic nucleus, Caudate nucleus, Amygdala, Dorsal root ganglion, Trigeminal ganglion, Cardiac myocytes, Atrioventricular node, Tongue, Fetal liver, Fetal lung, Trachea, Bronchial epithelium, Fetal thyroid, Pancreatic islet, Adrenal cortex, Pineal, Pituitary, Uterus corpus, Testis germ, Testis leydig

Animal Models for N Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for N Syndrome

Sources:
51PubMed
See all sources

Articles related to N Syndrome:

(show top 50)    (show all 17907)
idTitleAuthorsYear
1
What Is the Evidence that Neuropathic Pain Is Present in Chronic Low Back Pain and Soft Tissue Syndromes? An Evidence-Based Structured Review. (24118776)
2014
2
Is rituximab effective in childhood nephrotic syndrome? Yes and no. (23820888)
2013
3
The Relationship between Diabetic Neuropathy and Sleep Apnea Syndrome: A Meta-Analysis. (24381764)
2013
4
Persistent neck pain in a girl: Klippel-Feil syndrome. (24288136)
2013
5
Stevens-Johnson syndrome/toxic epidermal necrolysis: are drug dictionaries correctly informing physicians regarding the risk? (23743691)
2013
6
Pathogenic mechanisms and clinical implications of congenital neutropenia syndromes. (24145314)
2013
7
MRI findings in people with epilepsy and nodding syndrome in an area endemic for onchocerciasis: an observational study. (24235964)
2013
8
Clinical, physical, and neurophysiological impairments associated with decreased function in women with carpal tunnel syndrome. (23886648)
2013
9
Co-administration of albumin and furosemide in patients with the nephrotic syndrome. (22382243)
2012
10
Sall1 regulates cortical neurogenesis and laminar fate specification in mice: implications for neural abnormalities in Townes-Brocks syndrome. (22228756)
2012
11
Nephrotic syndrome and idiopathic membranous nephropathy associated with autosomal-dominant polycystic kidney disease. (21552769)
2011
12
PTC124-mediated translational readthrough of a nonsense mutation causing Usher syndrome type 1C. (21235327)
2011
13
Nonmutilating palmoplantar and periorificial kertoderma: a variant of Olmsted syndrome or a distinct entity? (20618471)
2010
14
Bilateral type 1 complex regional pain syndrome after local nerve blocks for palmar hyperhidrosis. (19389087)
2009
15
Presence of autoantibodies against tubular and uveal cells in a patient with tubulointerstitial nephritis and uveitis (TINU) syndrome. (18156461)
2008
16
Does cytokine gene polymorphism affect steroid responses in idiopathic nephrotic syndrome? (19008611)
2008
17
The genetic ascertainment of multiple endocrine neoplasia type 1 syndrome by ancient DNA analysis. (19092297)
2008
18
An MLL-SEPT9 fusion and t(11;17)(q23;q25) associated with de novo myelodysplastic syndrome. (17250889)
2007
19
Lyme neuroborreliosis presenting as the syndrome of inappropriate antidiuretic hormone secretion. (17406193)
2006
20
Study of nucleophosmin (NPM) gene mutation in patients with acute myeloid leukemia and myelodysplastic syndromes]. (17147251)
2006
21
Dumping syndrome as a complication of laparoscopic Nissen fundoplication in an adult. (16709369)
2006
22
HTLV-1 Associated Motor Neuron Disease Mimicking &quot;Man-in-the-Barrel&quot; Syndrome. (19078761)
2005
23
Placental expression of nitric oxide synthase during HELLP syndrome: the correlation with maternal-fetal Doppler velocimetry. (16097974)
2005
24
Severe gastrointestinal bleeding during pregnancy in a case of blue rubber bleb nevus syndrome. (16052398)
2005
25
Prenatal DNA diagnosis of Noonan syndrome in a fetus with massive hygroma colli, pleural effusion and ascites. (16032767)
2005
26
Long-term survival in Stuve-Wiedemann syndrome: a neuro-myo-skeletal disorder with manifestations of dysautonomia. (12687669)
2003
27
National Task Force on Fetal Alcohol Syndrome and Fetal Alcohol Effect: defining the national agenda for fetal alcohol syndrome and other prenatal alcohol-related effects. (12572781)
2002
28
Nutritional management of pediatric patients with chronic intestinal pseudo-obstruction syndrome. (11321423)
2001
29
Same eye recurrence of acute retinal necrosis syndrome. (11336947)
2001
30
Normouricemia in the syndrome of inappropriate antidiuretic hormone secretion. (11136197)
2001
31
Nephrotic syndrome due to membranous nephropathy associated with metastatic prostate cancer: rapid remission after initial endocrine therapy. (10644912)
2000
32
Diffuse retinal hemorrhages (ocular decompression syndrome) after trabeculectomy with mitomycin C for neovascular glaucoma. (10990054)
2000
33
Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. (10655056)
2000
34
Heterophil negative infectious mononucleosis like syndrome due to hepatitis B virus. (11198796)
2000
35
Insulin-like growth factor binding protein-1 in NIDDM: relationship with the insulin resistance syndrome. (10396366)
1999
36
Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident. (8981943)
1997
37
The neonatal progeroid syndrome (Wiedemann-Rautenstrauch) and its relationship to Pelizaeus-Merzbacher's disease. (7609841)
1995
38
Urticaria pigmentosa and Nager syndrome. (8176025)
1994
39
Case records of the Department of Medicine University of Mississippi Medical Center. Sweet's syndrome (acute febrile neutrophilic dermatosis) (8164269)
1994
40
Paraneoplastic syndromes in patients with ovarian neoplasia. (8505727)
1993
41
Concentration of thrombin antithrombin III complex and plasmin alpha 2-plasmin inhibitor complex in nephrotic syndrome]. (1836241)
1991
42
The cardio-facio-cutaneous (CFC) syndrome and Noonan syndrome: are they the same? (2063896)
1991
43
Neurotoxin-induced impairment of biopterin synthesis and function: Initial stage of a Parkinson-like dopamine deficiency syndrome. (20504623)
1990
44
Membranous glomerulonephritis and the nephrotic syndrome in a patient with Landry-Guillain-BarrAc-Strohl syndrome. (2728436)
1989
45
Encephalocraniocutaneous lipomatosis: a new neurocutaneous syndrome. (6893936)
1981
46
Dysplastic nevus syndrome, newly recognized, may herald melanoma. (7230445)
1981
47
The iris naevus (Cogan-Reese) syndrome: light and electron microscopic observations. (7387971)
1980
48
Elevation of plasma neurotensin in the dumping syndrome. (7428291)
1980
49
Neurologic involvement in glucagonoma syndrome: response to combination chemotherapy with 5-fluorouracil and streptozotocin. (228832)
1979
50
Acrodysostosis. A syndrome of peripheral dysostosis, nasal hypoplasia, and mental retardation. (5551869)
1971

Genetic Variations for N Syndrome

Expression for genes affiliated with N Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 38NCBI BioSystems Database, 30KEGG, 12EMD Millipore
See all sources

Compounds for genes affiliated with N Syndrome

Sources:
45Novoseek, 11DrugBank, 24HMDB, 60Tocris Bioscience, 50PharmGKB
See all sources

Compounds related to N Syndrome according to GeneCards/GeneDecks:

(show all 21)
idCompoundScoreTop Affiliating Genes
1clofarabine45 1111.4DGUOK, POLA1
2nelarabine45 1111.3DGUOK, POLA1
3dctp45 2411.2POLA1, POLG, DGUOK
4trifluorothymidine60 4511.2TYMP, HPRT1
5cidofovir45 1111.2TYMP, POLG
6didanosine45 1111.2HPRT1, POLG, DGUOK
7abacavir45 50 1112.1POLG, HPRT1
8purine nucleoside4510.1HPRT1, TYMP, DGUOK
9deoxycytidine45 2411.1DGUOK, TYMP, HPRT1
10dttp4510.1TYMP, POLG
11tab-14510.0TRAF6, IRAK1
12dgtp45 2411.0DGUOK, POLG, POLA1, HPRT1
13tab-2459.9TRAF6, IRAK1
14deoxyguanosine45 2410.9HPRT1, TYMP, POLG, DGUOK
15zidovudine45 1110.9HPRT1, TYMP, POLG
16nucleoside459.9DGUOK, POLG, TYMP, HPRT1
17thymidylate459.9DGUOK, POLG, TYMP, HPRT1
18purine45 2410.8DGUOK, TYMP, HPRT1
19folate459.6HPRT1, TYMP, GAST, GATA1
20thymidine45 2410.2DGUOK, GAST, POLG, TYMP, HPRT1, GJB2
21serine458.2IRAK1, GATA1, GAST, TRAF6, TYMP, HPRT1

GO Terms for genes affiliated with N Syndrome

Sources:
16Gene Ontology
See all sources

Cellular components related to N Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lipid particleGO:0058119.2ABHD5, TRAF6, IRAK1, CKAP4
2nucleolusGO:0057308.5GATA1, 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:0055157.2GTF2I, RPGRIP1, GNL3, IRAK1, GATA1, GAST

Products for genes affiliated with N Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for N Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet