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

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Sources:
46OMIM, 8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 10DISEASES, 48Orphanet, 22GTR, 61UMLS, 26ICD10 via Orphanet, 62UMLS via Orphanet, 34MESH via Orphanet
See all sources

Aliases & Descriptions for N Syndrome:

Name: N Syndrome 46 8 9 42 10 48 61
Nsx 8 42
 
Mental Retardation, Malformations, Chromosome Breakage, and Development of T-Cell Leukemia 42
Ns 22


Classifications:



Characteristics (Orphanet epidemiological data):

48
n syndrome:
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

OMIM46 310465
Disease Ontology8 DOID:0050769
Orphanet48 2608
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet62 C2936859
MESH via Orphanet34 C536108

Summaries for N Syndrome

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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:46 310465

Related Diseases for N Syndrome

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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

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Symptoms by clinical synopsis from OMIM:

310465

Clinical features from OMIM:

310465

Symptoms:

 48 (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

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Drug clinical trials:

Search ClinicalTrials for N Syndrome

Search NIH Clinical Center for N Syndrome

Genetic Tests for N Syndrome

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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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MalaCards organs/tissues related to N Syndrome:

31
T cells, Testes, Heart

Animal Models for N Syndrome or affiliated genes

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Publications for N Syndrome

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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

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Expression for genes affiliated with N Syndrome

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Search GEO for disease gene expression data for N Syndrome.

Pathways for genes affiliated with N Syndrome

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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 metabolism59
purine deoxyribonucleosides salvage36
9.0HPRT1, POLA1
29.0HPRT1, POLA1

Compounds for genes affiliated with N Syndrome

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Sources:
44Novoseek, 24HMDB
See all sources

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

idCompoundScoreTop Affiliating Genes
1pyrophosphate44 2410.0HPRT1, POLA1
2dgtp44 249.9HPRT1, POLA1
3phosphoric acid44 249.7HPRT1, POLA1

GO Terms for genes affiliated with N Syndrome

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

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

Sources for N Syndrome

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet