NSX
MCID: NSY001
MIFTS: 32

N Syndrome (NSX)

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

Aliases & Classifications for N Syndrome

MalaCards integrated aliases for N Syndrome:

Name: N Syndrome 57 12 53 59 29 13 15 40
Nsx 57 12 53
Mental Retardation, Malformations, Chromosome Breakage, and Development of T-Cell Leukemia 53

Characteristics:

Orphanet epidemiological data:

59
n syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: late childhood;

OMIM:

57
Inheritance:
x-linked


HPO:

32
n syndrome:
Inheritance x-linked inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0050769
OMIM 57 310465
MESH via Orphanet 45 C536108
ICD10 via Orphanet 34 Q87.8
UMLS via Orphanet 73 C2936859
Orphanet 59 ORPHA2608
MedGen 42 C2936859

Summaries for N Syndrome

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2608DefinitionN 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 DNA polymerase 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.

MalaCards based summary : N Syndrome, also known as nsx, is related to netherton syndrome and enamel caries. An important gene associated with N Syndrome is POLA1 (DNA Polymerase Alpha 1, Catalytic Subunit), and among its related pathways/superpathways is Nucleotide Metabolism. Affiliated tissues include t cells, and related phenotypes are intellectual disability and spasticity

Disease Ontology : 12 A syndrome that is characterized by intellectual disability, deafness, ocular abnormalities, T-cell leukemia, cryptorchidism, hypospadias and spasticity.

More information from OMIM: 310465

Related Diseases for N Syndrome

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

# Related Disease Score Top Affiliating Genes
1 netherton syndrome 11.1
2 enamel caries 10.2 SLC13A5 SLC13A2
3 fanconi anemia, complementation group a 9.5
4 t-cell leukemia 9.5
5 leukemia, t-cell, chronic 9.5
6 multiple congenital anomalies/dysmorphic syndrome-intellectual disability 9.5

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



Diseases related to N Syndrome

Symptoms & Phenotypes for N Syndrome

Human phenotypes related to N Syndrome:

59 32 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
2 spasticity 59 32 hallmark (90%) Very frequent (99-80%) HP:0001257
3 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
4 visual impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000505
5 megalocornea 59 32 hallmark (90%) Very frequent (99-80%) HP:0000485
6 cryptorchidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000028
7 hypospadias 59 32 hallmark (90%) Very frequent (99-80%) HP:0000047
8 bilateral sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0008619
9 t-cell lymphoma/leukemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0005517
10 abnormal eyelid morphology 32 hallmark (90%) HP:0000492
11 hearing impairment 32 HP:0000365
12 neoplasm 32 HP:0002664
13 abnormality of the eyelid 59 Very frequent (99-80%)
14 abnormality of chromosome stability 32 HP:0003220
15 leukemia 32 HP:0001909
16 abnormality of the globe 59 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

57
Neuro:
spasticity
mental retardation

G U:
cryptorchidism
hypospadias

Oncology:
lymphoblastic leukemia with mediastinal mass

Eyes:
visual impairment
laterally overlapping upper eyelids
large corneas

Ears:
deafness
abnormal auricles

Lab:
increased chromosome breakage
possible dna polymerase alpha defect

Clinical features from OMIM:

310465

GenomeRNAi Phenotypes related to N Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.92 ABCB6 CD1C CD2 CST3 ELF3 EPCAM

MGI Mouse Phenotypes related to N Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.36 ABCB6 CST3 EPCAM ERBB2 GBA HPRT1

Drugs & Therapeutics for N Syndrome

Search Clinical Trials , NIH Clinical Center for N Syndrome

Genetic Tests for N Syndrome

Genetic tests related to N Syndrome:

# Genetic test Affiliating Genes
1 N Syndrome 29

Anatomical Context for N Syndrome

MalaCards organs/tissues related to N Syndrome:

41
T Cells

Publications for N Syndrome

Articles related to N Syndrome:

# Title Authors PMID Year
1
DNA polymerase alpha defect in the N syndrome. 38 8
1689958 1990
2
Studies of malformation syndromes in man. XXVII. The N syndrome, a "new" multiple congenital anomaly-mental retardation syndrome. 38 8
4216437 1974
3
The Association Between Sjögren Syndrome and Adverse Postoperative Outcomes: A Historical Cohort Study Using Administrative Health Data. 38
26309019 2015
4
Molecular analysis of Lesch-Nyhan syndrome found in Japan. 38
3413775 1988
5
Updating the N syndrome: occurrence of lymphoid malignancy and possible association with an increased rate of chromosome breakage. 38
3130873 1987
6
Lesch-Nyhan syndrome in Japan. 38
3599493 1986
7
Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan patients. 38
6087154 1984
8
[Congenital homolateral epidermal hyperplasia and hypoplastic hemidysplasia (splitting of the Solomon's syndrome) (author's transl)]. 38
7447253 1980
9
Signal variance in computed tomography: the square root of N syndrome. 38
7360789 1980

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:

# Super pathways Score Top Affiliating Genes
1 9.9 POLA1 HPRT1

GO Terms for N Syndrome

Cellular components related to N Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endosome membrane GO:0010008 8.92 NCF4 ERBB2 CD1C ABCB6

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

# Name GO ID Score Top Affiliating Genes
1 ceramide biosynthetic process GO:0046513 9.16 P2RX7 GBA
2 negative regulation of proteolysis GO:0045861 8.96 SERPINB3 CST3
3 positive regulation of T cell mediated cytotoxicity GO:0001916 8.62 P2RX7 CD1C

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

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.02 POLA1 NSF HPRT1 ERBB2 ABCB6

Sources for N Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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