NS
MCID: NSY001
MIFTS: 36

N Syndrome (NS) malady

Categories: Rare diseases, Ear diseases, Fetal diseases, Neuronal diseases, Cancer diseases, Mental diseases

Aliases & Classifications for N Syndrome

Aliases & Descriptions for N Syndrome:

Name: N Syndrome 54 12 50 56 13 14 69
Nsx 12 50
Mental Retardation, Malformations, Chromosome Breakage, and Development of T-Cell Leukemia 50
Ns 29

Characteristics:

Orphanet epidemiological data:

56
n syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: late childhood;

HPO:

32
n syndrome:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM 54 310465
Disease Ontology 12 DOID:0050769
Orphanet 56 ORPHA2608
MESH via Orphanet 43 C536108
UMLS via Orphanet 70 C2936859
ICD10 via Orphanet 34 Q87.8

Summaries for N Syndrome

MalaCards based summary : N Syndrome, also known as nsx, is related to pulmonary hypertension and mental retardation, x-linked 73, and has symptoms including intellectual disability, spasticity and hearing impairment. An important gene associated with N Syndrome is POLA1 (DNA Polymerase Alpha 1, Catalytic Subunit), and among its related pathways/superpathways is Nucleotide Metabolism. The drugs Acetylcysteine and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include t cells and heart.

Description from OMIM: 310465

Related Diseases for N Syndrome

Diseases related to N Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 pulmonary hypertension 9.3
2 mental retardation, x-linked 73 9.2 ABCB6 HPRT1 NCF4 P2RX7 POLA1

Symptoms & Phenotypes for N Syndrome

Symptoms by clinical synopsis from OMIM:

310465

Clinical features from OMIM:

310465

Human phenotypes related to N Syndrome:

32 (show all 9)
id Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 spasticity 32 HP:0001257
3 hearing impairment 32 HP:0000365
4 visual impairment 32 HP:0000505
5 neoplasm 32 HP:0002664
6 cryptorchidism 32 HP:0000028
7 hypospadias 32 HP:0000047
8 abnormality of chromosome stability 32 HP:0003220
9 leukemia 32 HP:0001909

Drugs & Therapeutics for N Syndrome

Drugs for N Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 1015)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcysteine Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 616-91-1 12035
2
Benzocaine Approved Phase 4,Phase 3,Phase 2 1994-09-7, 94-09-7 2337
3
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-61-6, 62-31-7 681
4
Cyproterone Acetate Approved, Investigational Phase 4 427-51-0
5
Drospirenone Approved Phase 4 67392-87-4 68873
6
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2 50-28-2 5757 53477783
7
Ethinyl Estradiol Approved Phase 4,Phase 3,Phase 2 57-63-6 5991
8
Abacavir Approved, Investigational Phase 4,Phase 3 136470-78-5 65140 441300
9
Amprenavir Approved Phase 4 161814-49-9 65016
10
Efavirenz Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 154598-52-4 64139
11
Lamivudine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 134678-17-4 60825
12
Ritonavir Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 155213-67-5 392622
13
Stavudine Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 3056-17-5 18283
14
Mycophenolate mofetil Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 128794-94-5 5281078
15
Mycophenolic acid Approved Phase 4,Phase 3,Phase 1,Phase 2 24280-93-1 446541
16
Lopinavir Approved Phase 4,Phase 3,Phase 1,Phase 2 192725-17-0 92727
17
Heparin Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 9005-49-6 772 46507594
18
Zinc Approved Phase 4,Phase 2 7440-66-6 32051 23994
19
Metformin Approved Phase 4,Phase 2,Phase 3,Phase 1 657-24-9 14219 4091
20
Aripiprazole Approved, Investigational Phase 4,Phase 3,Phase 2 129722-12-9 60795
21
Olanzapine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 132539-06-1 4585
22
Norepinephrine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-41-2 439260
23
Histamine Approved, Investigational Phase 4,Phase 2,Phase 1 75614-87-8, 51-45-6 774
24
Menthol Approved Phase 4,Phase 2,Phase 1 2216-51-5 16666
25
Fluoxetine Approved, Vet_approved Phase 4,Phase 2 54910-89-3 3386
26
Risperidone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 106266-06-2 5073
27
Pregabalin Approved, Illicit, Investigational Phase 4,Phase 3,Phase 1,Phase 2 148553-50-8 5486971
28
Zoledronic acid Approved Phase 4,Phase 2 118072-93-8 68740
29
Aspirin Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-78-2 2244
30
Emtricitabine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 143491-57-0 60877
31
Tenofovir Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 147127-20-6 464205
32
Mannitol Approved, Investigational Phase 4,Phase 2 69-65-8 453 6251
33 Dolutegravir Approved Phase 4,Phase 3,Phase 2,Phase 1 1051375-16-6 54726191
34
Darunavir Approved Phase 4,Phase 3,Phase 2,Phase 1 635728-49-3, 206361-99-1 213039
35
Simvastatin Approved Phase 4,Phase 2,Phase 3 79902-63-9 54454
36
Pioglitazone Approved, Investigational Phase 4,Phase 3 111025-46-8 4829
37
Telmisartan Approved, Investigational Phase 4,Phase 2,Phase 1 144701-48-4 65999
38
Everolimus Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 159351-69-6 6442177
39
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 22916-47-8 4189
40
Sirolimus Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 53123-88-9 5284616 6436030 46835353
41
Chlorpromazine Approved, Vet_approved Phase 4,Phase 2 50-53-3 2726
42
Haloperidol Approved Phase 4,Phase 2 52-86-8 3559
43
Morphine Approved, Investigational Phase 4,Phase 3,Phase 2 57-27-2 5288826
44
Remifentanil Approved Phase 4 132875-61-7 60815
45
Menotropins Approved Phase 4 61489-71-2 5360545
46
Vancomycin Approved Phase 4,Phase 3 1404-90-6 441141 14969
47
Cilnidipine Approved Phase 4 132203-70-4 5282138
48
Nifedipine Approved Phase 4 21829-25-4 4485
49
Amitriptyline Approved Phase 4,Phase 3,Phase 1,Phase 2 50-48-6 2160
50
Perphenazine Approved Phase 4,Phase 3,Phase 1,Phase 2 58-39-9 4748

Interventional clinical trials:

(show top 50) (show all 1530)
id Name Status NCT ID Phase
1 Effect of Intravenous Acetadote on Incidence of Contrast Induced Nephropathy Unknown status NCT00939913 Phase 4
2 Safety and Efficacy of Anti-Pandemic H1N1 Vaccination in Rheumatic Diseases Unknown status NCT01151644 Phase 4
3 Effect of Vitamin D on Metabolic Parameters in Patients With the Metabolic Syndrome Unknown status NCT01237769 Phase 4
4 Effect of Rotigotine Patch Treatment on Cardiovascular Markers in Idiopathic Restless Legs Syndrome Unknown status NCT01823770 Phase 4
5 Manipulation of Visceral Sensitivity and Immune System in IBS Unknown status NCT00418340 Phase 4
6 Hemocoagulation and Lipoperoxidation in Women Using Combined Oral Contraceptives, Correction by Antioxidants Unknown status NCT02027337 Phase 4
7 Randomized Trial of Creatine-kinase Leak After Rosuvastatin At the Time of Percutaneous Coronary Intervention Unknown status NCT01968577 Phase 4
8 Omega-3 Fatty Acids Efficacy in First-episode of Schizophrenia Unknown status NCT02210962 Phase 4
9 Effectiveness and Safety of Epivir/Ziagen/Zerit (3TC/ABC/d4T) Versus Epivir/Ziagen/Sustiva (3TC/ABC/EFV) Versus Epivir/Ziagen/Agenerase/Norvir (3TC/ABC/APV/RTV) in HIV Patients Who Have Never Received Treatment Unknown status NCT00005017 Phase 4
10 Effects of Mycophenolate Mofetil (MMF) on Surrogate Markers for Cardiovascular Disease in HIV-1 Infected Patients Unknown status NCT00247494 Phase 4
11 Mycophenolate Mofetil in Antiretroviral Naïve Patients 2 (MAN2 Study) Unknown status NCT00120419 Phase 4
12 Impact of Raltegravir on the Viral Reservoirs Unknown status NCT01249560 Phase 4
13 Lopinavir/Ritonavir or Efavirenz as First-line Antiretroviral Therapy Unknown status NCT01049685 Phase 4
14 N-acetyl Cysteine for Ovulation Induction in Clomiphene Citrate Resistant Polycystic Ovary Syndrome Completed NCT02239107 Phase 4
15 Effects of N-acetylcysteine on Low T3 Syndrome Completed NCT01501110 Phase 4
16 Clomiphene Plus N-acetyl Cysteine for Induction of Ovulation in Newly Diagnosed Pcos. Completed NCT01896492 Phase 4
17 Mechanism of Fatty Acid-Induced Impairment of Glucose-Stimulated Insulin Secretion Completed NCT00188773 Phase 4
18 Effects of Metformin Plus Simvastatin on Polycystic Ovarian Syndrome (PCOS): A Prospective, Randomized, Double-Blind, Placebo-Controlled Study Completed NCT01021579 Phase 4
19 The Effects of Peroxisome Proliferators Activated Receptor-Gamma (PPAR-γ) Agonists on Certain Biochemical and Inflammatory Markers in Metabolic Syndrome Completed NCT00926341 Phase 4
20 Niacin, N-3 Fatty Acids and Insulin Resistance Completed NCT00286234 Phase 4
21 Comparison of Stent Graft, Sirolimus Stent, and Bare Metal Stent Implanted in Patients With Acute Coronary Syndrome Completed NCT00452517 Phase 4
22 Randomized Controlled Trial on the Treatment Effects of Melatonin and Light Therapy on Delayed Sleep Phase Syndrome Completed NCT00834886 Phase 4
23 Pragmatic RCT Comparing Aripiprazole, Olanzapine and Haloperidol in the Treatment of Schizophrenia Completed NCT01052389 Phase 4
24 Remifentanil Versus Morphine for Sedation of Premature Neonates With Respiratory Distress Syndrome Completed NCT00391105 Phase 4
25 hMG or Recombinant FSH on OHSS Prevention in PCOS Patients Undergoing IVF Completed NCT01365936 Phase 4
26 Effects of Obstructive Sleep Apnea Treatment by Fixed CPAP and by Auto-CPAP (Somnosmart2) Completed NCT00633711 Phase 4
27 Vancomycin Associated Red Man Syndrome (RMS) Completed NCT00824122 Phase 4
28 Effect of Lactobacillus Plantarum 299v on Symptoms of Irritable Bowel Syndrome Completed NCT01886781 Phase 4
29 The Effects of Cilnidipine on Metabolic Syndrome Improvement Completed NCT00325936 Phase 4
30 Endothelial Progenitor Cells-capture Stents in Acute Coronary Syndromes Completed NCT00494247 Phase 4
31 Radio-frequency (RF)-Based Plasma Micro-tenotomy for the Treatment of Shoulder Impingement Syndrome Completed NCT01554670 Phase 4
32 Combining N-of-1 Trials to Assess Fibromyalgia Treatments Completed NCT00000428 Phase 4
33 Low Level Laser Therapy Associated With Exercise in Subacromial Impingement Syndrome Completed NCT02725749 Phase 4
34 Developing New Treatments for Tourette Syndrome: Therapeutic Trials With Modulators of Glutamatergic Neurotransmission Completed NCT01018056 Phase 4
35 Impact of High-dose Pretreatment of Rosuvastatin in Patients With Acute Coronary Syndrome Following Off-pump Coronary Artery Bypass: Results From the HIROP-ACS (HIgh-dose Pretreatment of Rosuvastatin During Off-Pump Coronary Bypass in Acute Coronary Syndr Completed NCT01971606 Phase 4
36 Effects of Neupro on Cardiovascular Observations in Patients With Restless Legs Syndrome Completed NCT01455012 Phase 4
37 Bromfenac to Reduce Inflammation in Patients With Pseudoexfoliation Syndrome After Cataract Surgery Completed NCT02137161 Phase 4
38 Crocus Sativus (Saffron) and Berberis Vulgaris (Barberry Fruit) in Metabolic Syndrome Completed NCT01625442 Phase 4
39 Paroxetine-CR (Paxil-CR) in the Treatment of Patients With Fibromyalgia Syndrome Completed NCT00610610 Phase 4
40 Long-acting Injectable Risperidone in Patients With Schizophrenia After an Acute Episode Completed NCT00216671 Phase 4
41 Evaluation of the Effect and Tolerance of Preservative Free NAAGA on the Inflammatory Component and Symptoms of Dry Eye Syndrome in Allergic Conjunctivitis Patients Completed NCT01203540 Phase 4
42 Early Effects of Intensive Lipid Lowering Treatment With Ezetimibe/ Simvastatin (Vytorin®) Assessed by Virtual Histology-Intravascular Ultrasound (VH-IVUS) and Optical Coherence Tomography (OCT) on Plaque Characteristics in Patients With Acute Coronary Sy Completed NCT01857843 Phase 4
43 Effects of Bolus Surfactant Therapy on Peripheral Perfusion Index and Tissue Carbon Monoxide Completed NCT01923844 Phase 4
44 Curcumin (Tumeric) in the Treatment of Irritable Bowel Syndrome: A Randomized-Controlled Trial Completed NCT00779493 Phase 4
45 A Study of Treatment Success in Changing From Olanzapine to Long-acting Injectable Risperidone (RISPERDAL® CONSTA™) Completed NCT00216632 Phase 4
46 Efficacy of Combining Prophylactic Curosurf With Early Nasal CPAP in Delivery Room: the Curpap Study Completed NCT00501982 Phase 4
47 A Phase 4 Two Dose Level Study of Naglazyme(TM) (Galsulfase) in Infants With MPS VI Completed NCT00299000 Phase 4
48 INFLACOR - Clinical and Genetic Predictors of Inflammation Related Complications After Heart Surgery Completed NCT01020409 Phase 4
49 Pregabalin and Post-thoracotomy Pain Completed NCT00663962 Phase 4
50 Evaluation of Efficacy of Zoledronic Acid in Patients With Haemoglobin Syndromes (Thalassemia and Sicle Cell Anaemia) and Risk of Skeletal Events Completed NCT00346242 Phase 4

Search NIH Clinical Center for N Syndrome

Genetic Tests for N Syndrome

Genetic tests related to N Syndrome:

id Genetic test Affiliating Genes
1 N Syndrome 29

Anatomical Context for N Syndrome

MalaCards organs/tissues related to N Syndrome:

39
T Cells, Heart

Publications for N Syndrome

Articles related to N Syndrome:

id Title Authors Year
1
Yunis-VarA^n syndrome: the first report of two Iranian cases. ( 24658994 )
2014
2
Yunis-VarA^n syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase. ( 23623387 )
2013
3
Primary pulmonary hypertension, congenital heart defect, central nervous system malformations, hypo- and aplastic toes: another case of Yunis-VarA^n syndrome or report of a new entity. ( 22044576 )
2012
4
New ocular findings in two sisters with Yunis-VarA^n syndrome and literature review. ( 20932945 )
2011
5
Generalized lysosomal storage in Yunis VarA^n syndrome. ( 7496176 )
1995
6
Congenital heart malformation in Yunis-VarA^n syndrome. ( 8411078 )
1993
7
DNA polymerase alpha defect in the N syndrome. ( 1689958 )
1990
8
Updating the N syndrome: occurrence of lymphoid malignancy and possible association with an increased rate of chromosome breakage. ( 3130873 )
1987
9
Signal variance in computed tomography: the square root of N syndrome. ( 7360789 )
1980
10
Studies of malformation syndromes in man. XXVII. The N syndrome, a "new" multiple congenital anomaly-mental retardation syndrome. ( 4216437 )
1974

Variations for N Syndrome

Expression for N Syndrome

Search GEO for disease gene expression data for N Syndrome.

Pathways for N Syndrome

Pathways related to N Syndrome according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 9.9 HPRT1 POLA1

GO Terms for N Syndrome

Cellular components related to N Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 endosome membrane GO:0010008 8.62 ABCB6 NCF4

Biological processes related to N Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 positive regulation of catalytic activity GO:0043085 8.96 NCF4 P2RX7
2 cytolysis GO:0019835 8.62 HPRT1 P2RX7

Molecular functions related to N Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 8.8 ABCB6 HPRT1 POLA1

Sources for N Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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