MCID: NSY001
MIFTS: 30

N Syndrome malady

Rare diseases, Ear diseases, Fetal diseases, Cancer diseases, Neuronal diseases, Mental diseases categories

Aliases & Classifications for N Syndrome

About this section
Sources:
45OMIM, 9Disease Ontology, 10diseasecard, 41NIH Rare Diseases, 11DISEASES, 47Orphanet, 22GTR, 60UMLS, 26ICD10 via Orphanet, 61UMLS via Orphanet, 34MESH via Orphanet
See all sources

N Syndrome, Aliases & Descriptions:

Name: N Syndrome 45 9 10 41 11 47 60
Nsx 9 41
 
Mental Retardation, Malformations, Chromosome Breakage, and Development of T-Cell Leukemia 41
Ns 22


Classifications:



Characteristics (Orphanet epidemiological data):

47
n syndrome:
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

OMIM45 310465
Disease Ontology9 DOID:0050769
Orphanet47 2608
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet61 C2936859
MESH via Orphanet34 C536108

Summaries for N Syndrome

About this section


MalaCards based summary: N Syndrome, also known as nsx, is related to xeroderma pigmentosum, variant type and pulmonary hypertension, and has symptoms including cryptorchidism, sensorineural hearing impairment and megalocornea. An important gene associated with N Syndrome is POLA1 (polymerase (DNA directed), alpha 1, catalytic subunit), and among its related pathways are Purine metabolism and Nucleotide Metabolism. The compounds pyrophosphate and dgtp have been mentioned in the context of this disorder. Affiliated tissues include t cells, testes and heart.

Description from OMIM:45 310465

Related Diseases for N Syndrome

About this section

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

idRelated DiseaseScoreTop Affiliating Genes
1xeroderma pigmentosum, variant type10.0HPRT1, POLA1
2pulmonary hypertension9.9
3mental retardation9.9

Symptoms for N Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

310465

Clinical features from OMIM:

310465

Symptoms:

 47 (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

HPO human phenotypes related to N Syndrome:

(show all 19)
id Description Frequency HPO Source Accession
1 cryptorchidism hallmark (90%) HP:0000028
2 sensorineural hearing impairment hallmark (90%) HP:0000407
3 megalocornea hallmark (90%) HP:0000485
4 visual impairment hallmark (90%) HP:0000505
5 hypertonia hallmark (90%) HP:0001276
6 acute leukemia hallmark (90%) HP:0002488
7 abnormality of chromosome stability hallmark (90%) HP:0003220
8 cognitive impairment hallmark (90%) HP:0100543
9 displacement of the external urethral meatus hallmark (90%) HP:0100627
10 cryptorchidism HP:0000028
11 hypospadias HP:0000047
12 hearing impairment HP:0000365
13 visual impairment HP:0000505
14 intellectual disability HP:0001249
15 spasticity HP:0001257
16 x-linked inheritance HP:0001417
17 leukemia HP:0001909
18 neoplasm HP:0002664
19 abnormality of chromosome stability HP:0003220

Drugs & Therapeutics for N Syndrome

About this section

Drug clinical trials:

Search ClinicalTrials for N Syndrome

Search NIH Clinical Center for N Syndrome

Genetic Tests for N Syndrome

About this section

Genetic tests related to N Syndrome:

id Genetic test Affiliating Genes
1 N Syndrome22

Anatomical Context for N Syndrome

About this section

MalaCards organs/tissues related to N Syndrome:

31
T cells, Testes, Heart

Animal Models for N Syndrome or affiliated genes

About this section

Publications for N Syndrome

About this section

Articles related to N Syndrome:

idTitleAuthorsYear
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 &quot;new&quot; multiple congenital anomaly-mental retardation syndrome. (4216437)
1974

Variations for N Syndrome

About this section

Expression for genes affiliated with N Syndrome

About this section
Search GEO for disease gene expression data for N Syndrome.

Pathways for genes affiliated with N Syndrome

About this section

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
UTP and CTP dephosphorylation II36
ATP ITP metabolism58
purine deoxyribonucleosides salvage36
9.0HPRT1, POLA1
29.0HPRT1, POLA1

Compounds for genes affiliated with N Syndrome

About this section
Sources:
43Novoseek, 24HMDB
See all sources

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

idCompoundScoreTop Affiliating Genes
1pyrophosphate43 2410.0HPRT1, POLA1
2dgtp43 249.9HPRT1, POLA1
3phosphoric acid43 249.7HPRT1, POLA1

GO Terms for genes affiliated with N Syndrome

About this section

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

idNameGO IDScoreTop Affiliating Genes
1nucleotide bindingGO:00001669.0HPRT1, POLA1

Products for genes affiliated with N Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for N Syndrome

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet