MCID: NSY001
MIFTS: 44

N Syndrome

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

Aliases & Classifications for N Syndrome

MalaCards integrated aliases for N Syndrome:

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

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;

OMIM:

54
Inheritance:
x-linked


HPO:

32
n syndrome:
Inheritance x-linked inheritance


Classifications:



Summaries for N Syndrome

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 2608disease definitionn syndrome is characterised by intellectual deficit, deafness, ocular anomalies, t-cell leukaemia, cryptorchidism, hypospadias and spasticity.epidemiologythree cases have been described so far.etiologymutations in dnapolymerase alpha, leading to increased chromosome breakage, may be responsible for the syndrome.genetic counselingx-linked recessive transmission has been proposed.visit the orphanet disease page for more resources. last updated: 11/30/2006

MalaCards based summary : N Syndrome, also known as nsx, is related to specific bursitis often of occupational origin and ureter squamous cell carcinoma, and has symptoms including visual impairment, spasticity and hypospadias. 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 brain, heart and lung, and related phenotypes are homeostasis/metabolism and mortality/aging

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 specific bursitis often of occupational origin 10.2 CST3 EPCAM
2 ureter squamous cell carcinoma 10.1 ERBB2 SMUG1
3 alternating exotropia 10.0 NCF4 SMUG1
4 gallbladder cancer 9.7 EPCAM ERBB2 SMUG1
5 pulmonary hypertension 9.3
6 myoclonus, cerebellar ataxia, and deafness 4.5 ABCB6 CD1C CST3 ELF3 EPCAM ERBB2

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



Diseases related to N Syndrome

Symptoms & Phenotypes for N Syndrome

Symptoms via clinical synopsis from OMIM:

54

Eyes:
visual impairment
laterally overlapping upper eyelids
large corneas

GU:
hypospadias
cryptorchidism

Oncology:
lymphoblastic leukemia with mediastinal mass

Neuro:
mental retardation
spasticity

Ears:
deafness
abnormal auricles

Lab:
increased chromosome breakage
possible dna polymerase alpha defect


Clinical features from OMIM:

310465

Human phenotypes related to N Syndrome:

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

MGI Mouse Phenotypes related to N Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.73 CST3 EPCAM ERBB2 GBA HPRT1 MGAM
2 mortality/aging MP:0010768 9.4 ABCB6 CST3 ELF3 EPCAM ERBB2 GBA

Drugs & Therapeutics for N Syndrome

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

(show top 50) (show all 874)
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
7
Ethinyl Estradiol Approved Phase 4,Phase 3 57-63-6 5991
8
Heparin Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 9005-49-6 772 46507594
9
Zinc Approved Phase 4,Phase 2 7440-66-6 32051 23994
10
Metformin Approved Phase 4,Phase 2,Phase 3,Phase 1 657-24-9 14219 4091
11
Aripiprazole Approved, Investigational Phase 4,Phase 3 129722-12-9 60795
12
Norepinephrine Approved Phase 4,Phase 1,Phase 2 51-41-2 439260
13
Histamine Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 75614-87-8, 51-45-6 774
14
Menthol Approved Phase 4,Phase 2 2216-51-5 16666
15
Pregabalin Approved, Illicit, Investigational Phase 4,Phase 3,Phase 1,Phase 2 148553-50-8 5486971
16
Aspirin Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-78-2 2244
17
Lamivudine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 134678-17-4 60825
18
Emtricitabine Approved, Investigational Phase 4,Phase 3 143491-57-0 60877
19 Dolutegravir Approved Phase 4,Phase 3,Phase 1 1051375-16-6 54726191
20
Simvastatin Approved Phase 4,Phase 2,Phase 3 79902-63-9 54454
21
Pioglitazone Approved, Investigational Phase 4,Phase 3 111025-46-8 4829
22
Telmisartan Approved, Investigational Phase 4,Phase 2,Phase 1 144701-48-4 65999
23
Everolimus Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 159351-69-6 6442177
24
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 22916-47-8 4189
25
Sirolimus Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 53123-88-9 5284616 6436030 46835353
26
Chlorpromazine Approved, Vet_approved Phase 4 50-53-3 2726
27
Haloperidol Approved Phase 4 52-86-8 3559
28
Olanzapine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 132539-06-1 4585
29
Morphine Approved, Investigational Phase 4,Phase 3,Phase 2 57-27-2 5288826
30
Remifentanil Approved Phase 4 132875-61-7 60815
31
Menotropins Approved Phase 4 61489-71-2, 9002-68-0 5360545
32
Vancomycin Approved Phase 4 1404-90-6 441141 14969
33
Cilnidipine Approved Phase 4 132203-70-4 5282138
34
Nifedipine Approved Phase 4 21829-25-4 4485
35
Amitriptyline Approved Phase 4,Phase 3,Phase 1,Phase 2 50-48-6 2160
36
Fluoxetine Approved, Vet_approved Phase 4,Phase 2 54910-89-3 3386
37
Perphenazine Approved Phase 4,Phase 3,Phase 1,Phase 2 58-39-9 4748
38
Riluzole Approved, Investigational Phase 4,Phase 3 1744-22-5 5070
39
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 2 50-02-2 5743
40
Ephedrine Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 299-42-3 9294
41
Pseudoephedrine Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 90-82-4 7028
42
Tobramycin Approved, Investigational Phase 4 32986-56-4 5496 36294
43
Paroxetine Approved, Investigational Phase 4,Phase 1,Phase 2 61869-08-7 43815
44
Risperidone Approved, Investigational Phase 4,Phase 3,Phase 1 106266-06-2 5073
45
Ezetimibe Approved Phase 4 163222-33-1 150311
46
Pravastatin Approved Phase 4,Phase 1,Phase 2 81093-37-0 54687
47 Beractant Approved Phase 4,Phase 2,Phase 3 108778-82-1
48
Carbon monoxide Approved Phase 4 630-08-0 281
49 Poractant alfa Approved Phase 4 129069-19-8
50
Zoledronic acid Approved Phase 4,Phase 2 118072-93-8 68740

Interventional clinical trials:

(show top 50) (show all 1235)

id Name Status NCT ID Phase Drugs
1 Effect of Intravenous Acetadote on Incidence of Contrast Induced Nephropathy Unknown status NCT00939913 Phase 4 intravenous NAC;Placebo
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 Vitamin D3
4 Effect of Rotigotine Patch Treatment on Cardiovascular Markers in Idiopathic Restless Legs Syndrome Unknown status NCT01823770 Phase 4 Rotigotine;Placebo patchs
5 Manipulation of Visceral Sensitivity and Immune System in IBS Unknown status NCT00418340 Phase 4 probiotic (bacterial/dietary supplement)
6 Hemocoagulation and Lipoperoxidation in Women Using Combined Oral Contraceptives, Correction by Antioxidants Unknown status NCT02027337 Phase 4 20 mcg ethinylestradiol /3 mg drospirenone;20 mcg ethinylestradiol/3 mg drospirenone and Selmevit;30 mcg ethinylestradiol/3 mg drospirenone;30 mcg ethinylestradiol/3 mg drospirenone and Selmevit;35 mcg ethinylestradiol/2 mg cyproterone;35 mcg ethinylestradiol/2 mg cyproterone and Selmevit
7 Randomized Trial of Creatine-kinase Leak After Rosuvastatin At the Time of Percutaneous Coronary Intervention Unknown status NCT01968577 Phase 4 Rosuvastatin
8 Omega-3 Fatty Acids Efficacy in First-episode of Schizophrenia Unknown status NCT02210962 Phase 4
9 N-acetyl Cysteine for Ovulation Induction in Clomiphene Citrate Resistant Polycystic Ovary Syndrome Completed NCT02239107 Phase 4 N-Acetyl cysteine
10 Effects of N-acetylcysteine on Low T3 Syndrome Completed NCT01501110 Phase 4 N-acetylcysteine
11 Clomiphene Plus N-acetyl Cysteine for Induction of Ovulation in Newly Diagnosed Pcos. Completed NCT01896492 Phase 4 NAC
12 Mechanism of Fatty Acid-Induced Impairment of Glucose-Stimulated Insulin Secretion Completed NCT00188773 Phase 4 N-acetylcysteine, intralipid, heparin
13 Effects of Metformin Plus Simvastatin on Polycystic Ovarian Syndrome (PCOS): A Prospective, Randomized, Double-Blind, Placebo-Controlled Study Completed NCT01021579 Phase 4 Metformin plus Placebo;Metfomin plus Simvastatin
14 The Effects of Peroxisome Proliferators Activated Receptor-Gamma (PPAR-γ) Agonists on Certain Biochemical and Inflammatory Markers in Metabolic Syndrome Completed NCT00926341 Phase 4 Pioglitazone;Telmisartan
15 Niacin, N-3 Fatty Acids and Insulin Resistance Completed NCT00286234 Phase 4 omega-3 acid ethyl esters;extended release niacin;placebo;omega-3 acid ethyl esters;combined treatment
16 Comparison of Stent Graft, Sirolimus Stent, and Bare Metal Stent Implanted in Patients With Acute Coronary Syndrome Completed NCT00452517 Phase 4
17 Pragmatic RCT Comparing Aripiprazole, Olanzapine and Haloperidol in the Treatment of Schizophrenia Completed NCT01052389 Phase 4 Aripiprazole;Olanzapine;Haloperidol
18 Randomized Controlled Trial on the Treatment Effects of Melatonin and Light Therapy on Delayed Sleep Phase Syndrome Completed NCT00834886 Phase 4
19 Remifentanil Versus Morphine for Sedation of Premature Neonates With Respiratory Distress Syndrome Completed NCT00391105 Phase 4 Remifentanil
20 hMG or Recombinant FSH on OHSS Prevention in PCOS Patients Undergoing IVF Completed NCT01365936 Phase 4 HMG;rFSH
21 Effects of Obstructive Sleep Apnea Treatment by Fixed CPAP and by Auto-CPAP (Somnosmart2) Completed NCT00633711 Phase 4
22 Vancomycin Associated Red Man Syndrome (RMS) Completed NCT00824122 Phase 4
23 Effect of Lactobacillus Plantarum 299v on Symptoms of Irritable Bowel Syndrome Completed NCT01886781 Phase 4 Lactobacillus plantarum 299v;Placebo comparator
24 The Effects of Cilnidipine on Metabolic Syndrome Improvement Completed NCT00325936 Phase 4 Cilnidipine
25 Endothelial Progenitor Cells-capture Stents in Acute Coronary Syndromes Completed NCT00494247 Phase 4
26 Combining N-of-1 Trials to Assess Fibromyalgia Treatments Completed NCT00000428 Phase 4 Amitriptyline;Amitriptyline plus Fluoxitine
27 Radio-frequency (RF)-Based Plasma Micro-tenotomy for the Treatment of Shoulder Impingement Syndrome Completed NCT01554670 Phase 4
28 Low Level Laser Therapy Associated With Exercise in Subacromial Impingement Syndrome Completed NCT02725749 Phase 4
29 Developing New Treatments for Tourette Syndrome: Therapeutic Trials With Modulators of Glutamatergic Neurotransmission Completed NCT01018056 Phase 4 D-serine;Riluzole;Placebo
30 Effects of Neupro on Cardiovascular Observations in Patients With Restless Legs Syndrome Completed NCT01455012 Phase 4 Rotigotine;Placebo
31 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 Rosuvastatin
32 Bromfenac to Reduce Inflammation in Patients With Pseudoexfoliation Syndrome After Cataract Surgery Completed NCT02137161 Phase 4 Dexamethasone+Tobramycin eye drop;Bromfenac eye drop
33 Crocus Sativus (Saffron) and Berberis Vulgaris (Barberry Fruit) in Metabolic Syndrome Completed NCT01625442 Phase 4 Saffron tablet;Barberry tablet;Placebo
34 Paroxetine-CR (Paxil-CR) in the Treatment of Patients With Fibromyalgia Syndrome Completed NCT00610610 Phase 4 Paroxetine CR;Placebo
35 Long-acting Injectable Risperidone in Patients With Schizophrenia After an Acute Episode Completed NCT00216671 Phase 4 early initiation of treatment with Risperdal Consta;routine initiation of treatment with Risperdal Consta
36 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 NAABAK eyedrops;Saline eyedrops
37 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 Ezetimibe 10mg & Simvastatin 40mg;Pravastatin 20mg
38 Effects of Bolus Surfactant Therapy on Peripheral Perfusion Index and Tissue Carbon Monoxide Completed NCT01923844 Phase 4 exogenous surfactant
39 Curcumin (Tumeric) in the Treatment of Irritable Bowel Syndrome: A Randomized-Controlled Trial Completed NCT00779493 Phase 4
40 A Study of Treatment Success in Changing From Olanzapine to Long-acting Injectable Risperidone (RISPERDAL® CONSTA™) Completed NCT00216632 Phase 4 risperidone
41 Efficacy of Combining Prophylactic Curosurf With Early Nasal CPAP in Delivery Room: the Curpap Study Completed NCT00501982 Phase 4 Poractant alfa (Curosurf®)
42 A Phase 4 Two Dose Level Study of Naglazyme(TM) (Galsulfase) in Infants With MPS VI Completed NCT00299000 Phase 4 Naglazyme
43 INFLACOR - Clinical and Genetic Predictors of Inflammation Related Complications After Heart Surgery Completed NCT01020409 Phase 4
44 Pregabalin and Post-thoracotomy Pain Completed NCT00663962 Phase 4 Pregabalin;Placebo
45 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 Zoledronic Acid
46 Norfloxacin In The Primary Prophylaxis Of Spontaneous Bacterial Peritonitis Completed NCT00359853 Phase 4 Oral norfloxacin
47 Antithrombotic Triple Therapy in Humans Completed NCT01812200 Phase 4 Dabigatran, Ticagrelor, ASA;Rivaroxaban, Ticagrelor, ASA;Phenprocoumon, Ticagrelor, ASA
48 Bezafibrate for Hyperfibrinogenemia in Acute Myocardial Infarction Completed NCT02291796 Phase 4 Bezafibrate
49 Influence of Age, Sepsis and SLCO1A2 Polymorphisms on Rocuronium Pharmacokinetics Completed NCT02399397 Phase 4 General anesthesia
50 Rapid Evaluation of Pandemic H1N1 Influenza Vaccine in Adults With HIV Completed NCT01002040 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
Brain, Heart, Lung, Myeloid, Testes, Liver, T Cells

Publications for N Syndrome

Articles related to N Syndrome:

(show all 11)
id Title Authors Year
1
Yunis-VarA^n syndrome caused by biallelic VAC14 mutations. ( 28635952 )
2017
2
Yunis-VarA^n syndrome: the first report of two Iranian cases. ( 24658994 )
2014
3
Yunis-VarA^n syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase. ( 23623387 )
2013
4
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
5
New ocular findings in two sisters with Yunis-VarA^n syndrome and literature review. ( 20932945 )
2011
6
Generalized lysosomal storage in Yunis VarA^n syndrome. ( 7496176 )
1995
7
Congenital heart malformation in Yunis-VarA^n syndrome. ( 8411078 )
1993
8
DNA polymerase alpha defect in the N syndrome. ( 1689958 )
1990
9
Updating the N syndrome: occurrence of lymphoid malignancy and possible association with an increased rate of chromosome breakage. ( 3130873 )
1987
10
Signal variance in computed tomography: the square root of N syndrome. ( 7360789 )
1980
11
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 8.92 ABCB6 CD1C ERBB2 NCF4

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

id Name GO ID Score Top Affiliating Genes
1 ceramide biosynthetic process GO:0046513 8.96 GBA 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 9.02 ABCB6 ERBB2 HPRT1 NSF 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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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