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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47OMIM, 33MalaCards
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MalaCards: N Syndrome, also known as mental retardation, malformations, chromosome breakage, and development of t-cell leukemia, is related to netherton syndrome and xeroderma pigmentosum, and has symptoms including chromosome breakage, x-linked recessive inheritance and acute leukemia. 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:47 310465

Aliases & Classifications for N Syndrome

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Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 22GTR, 49Orphanet, 62UMLS, 47OMIM, 36MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
n syndrome:
Inheritance: X-linked recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

n syndrome 8 9 43 22 49 62
mental retardation, malformations, chromosome breakage, and development of t-cell leukemia 43
nsx 43


External Ids:

Disease Ontology8 DOID:0050769
OMIM47 310465
MESH via Orphanet36 C536108
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet63 C2936859

Related Diseases for N Syndrome

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to N Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1netherton syndrome30.2HPRT1
2xeroderma pigmentosum10.0HPRT1, POLA1
3primary pulmonary hypertension9.8
4hypertension9.8
5mental retardation9.8

Graphical network of diseases related to N Syndrome:



Diseases related to n syndrome

Symptoms for N Syndrome

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47OMIM, 49Orphanet
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Clinical features from OMIM:

310465

Symptoms:

49 (show all 11)
  • chromosome breakage
  • x-linked recessive inheritance
  • acute leukemia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • hypertonia/spasticity/rigidity/stiffness
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • hypospadias/epispadias/bent penis
  • sensorineural deafness/hearing loss
  • anomalies of ear and hearing
  • mild visual loss/impaired visual acuity
  • megalocornea

Drugs & Therapeutics for N Syndrome

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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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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22GTR
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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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33MalaCards
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MalaCards organs/tissues related to N Syndrome:

33
T cells, Testes, Heart

Animal Models for N Syndrome or affiliated genes

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Publications for N Syndrome

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52PubMed
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Articles related to N Syndrome:

idTitleAuthorsYear
1
Yunis-VarA^n syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase. (23623387)
2013
2
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
3
New ocular findings in two sisters with Yunis-VarA^n syndrome and literature review. (20932945)
2011
4
Generalized lysosomal storage in Yunis VarA^n syndrome. (7496176)
1995
5
Congenital heart malformation in Yunis-VarA^n syndrome. (8411078)
1993
6
DNA polymerase alpha defect in the N syndrome. (1689958)
1990
7
Updating the N syndrome: occurrence of lymphoid malignancy and possible association with an increased rate of chromosome breakage. (3130873)
1987
8
Signal variance in computed tomography: the square root of N syndrome. (7360789)
1980
9
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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2BioGPS, 15Gene Expression Omnibus DataSets
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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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Sources:
50PathCards, 55Reactome, 38NCBI BioSystems Database, 60Thomson Reuters, 30KEGG
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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 II38
ATP ITP metabolism60
purine deoxyribonucleosides salvage38
9.0HPRT1, POLA1
29.0HPRT1, POLA1

Compounds for genes affiliated with N Syndrome

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45Novoseek, 24HMDB
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Compounds related to N Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1pyrophosphate45 2410.0HPRT1, POLA1
2dgtp45 249.9HPRT1, POLA1
3phosphoric acid45 249.7HPRT1, POLA1

GO Terms for genes affiliated with N Syndrome

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16Gene Ontology
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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
  • Antibodies

Sources for N Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet