NSX
MCID: NSY001
MIFTS: 33

N Syndrome (NSX) malady

Rare diseases, Ear diseases, Fetal diseases, Cancer diseases, Neuronal diseases, Mental diseases categories
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Summaries for N Syndrome

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MalaCards based summary: N Syndrome, also known as NSX, is related to netherton syndrome and xeroderma pigmentosum, 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 HPRT1 (hypoxanthine phosphoribosyltransferase 1), 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

Aliases & Classifications for N Syndrome

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Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 22GTR, 48Orphanet, 62UMLS, 46OMIM, 26ICD10 via Orphanet, 63UMLS via Orphanet, 35MESH via Orphanet
See all sources

N Syndrome, Aliases & Descriptions:

Name: N Syndrome 8 9 42 22 48 62
Nsx 8 42
 
Mental Retardation, Malformations, Chromosome Breakage, and Development of T-Cell Leukemia 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
n syndrome:
Inheritance: X-linked recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


External Ids:

Disease Ontology8 DOID:0050769
OMIM46 310465
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet63 C2936859
MESH via Orphanet35 C536108

Related Diseases for N Syndrome

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

idRelated DiseaseScoreTop Affiliating Genes
1netherton syndrome30.3HPRT1
2xeroderma pigmentosum10.0HPRT1, POLA1
3hypertension9.9
4pulmonary hypertension9.9
5primary pulmonary hypertension9.9
6mental retardation9.9

Graphical network of diseases related to N Syndrome:



Diseases related to n syndrome

Symptoms for N Syndrome

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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 9)
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

Drugs & Therapeutics for N Syndrome

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Drug clinical trials:

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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:

32
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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Expression patterns in normal tissues for genes affiliated with N Syndrome

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Pathways for genes affiliated with N Syndrome

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Pathways related to N Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
UTP and CTP dephosphorylation II37
ATP ITP metabolism60
purine deoxyribonucleosides salvage37
9.0HPRT1, POLA1
29.0HPRT1, POLA1

Compounds for genes affiliated with N Syndrome

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Sources:
44Novoseek, 24HMDB
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Compounds related to N Syndrome according to GeneCards/GeneDecks:

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/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleotide bindingGO:0001669.0HPRT1, POLA1

Products for genes affiliated with N Syndrome

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  • Antibodies
  • Proteins
  • Lysates

Sources for N Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet