NSX
MCID: NSY001
MIFTS: 30

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 20 58 29 13 15 39
Nsx 57 12 20
Mental Retardation, Malformations, Chromosome Breakage, and Development of T-Cell Leukemia 20

Characteristics:

Orphanet epidemiological data:

58
n syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: late childhood;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
x-linked


HPO:

31
n syndrome:
Inheritance x-linked inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0050769
OMIM® 57 310465
MESH via Orphanet 45 C536108
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 72 C2936859
Orphanet 58 ORPHA2608
MedGen 41 C2936859

Summaries for N Syndrome

GARD : 20 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 endometrial stromal tumor. An important gene associated with N Syndrome is POLA1 (DNA Polymerase Alpha 1, Catalytic Subunit), and among its related pathways/superpathways is protein ubiquitylation. 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 11.0
2 endometrial stromal tumor 9.9 MBTD1 H2AC18
3 fanconi anemia, complementation group a 9.6
4 t-cell lymphoblastic leukemia/lymphoma 9.6
5 leukemia, t-cell, chronic 9.6
6 multiple congenital anomalies/dysmorphic syndrome-intellectual disability 9.6

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:

58 31 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 spasticity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001257
3 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
4 visual impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000505
5 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028
6 hypospadias 58 31 hallmark (90%) Very frequent (99-80%) HP:0000047
7 megalocornea 58 31 hallmark (90%) Very frequent (99-80%) HP:0000485
8 bilateral sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0008619
9 t-cell lymphoma/leukemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0005517
10 abnormal eyelid morphology 31 hallmark (90%) HP:0000492
11 hearing impairment 31 HP:0000365
12 neoplasm 31 HP:0002664
13 abnormality of chromosome stability 31 HP:0003220
14 leukemia 31 HP:0001909
15 abnormality of the eyelid 58 Very frequent (99-80%)
16 abnormality of the globe 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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

Publications for N Syndrome

Articles related to N Syndrome:

# Title Authors PMID Year
1
DNA polymerase alpha defect in the N syndrome. 57 61
1689958 1990
2
Studies of malformation syndromes in man. XXVII. The N syndrome, a "new" multiple congenital anomaly-mental retardation syndrome. 61 57
4216437 1974
3
The Association Between Sjögren Syndrome and Adverse Postoperative Outcomes: A Historical Cohort Study Using Administrative Health Data. 61
26309019 2015
4
Molecular analysis of Lesch-Nyhan syndrome found in Japan. 61
3413775 1988
5
Updating the N syndrome: occurrence of lymphoid malignancy and possible association with an increased rate of chromosome breakage. 61
3130873 1987
6
Lesch-Nyhan syndrome in Japan. 61
3599493 1986
7
Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan patients. 61
6087154 1984
8
[Congenital homolateral epidermal hyperplasia and hypoplastic hemidysplasia (splitting of the Solomon's syndrome) (author's transl)]. 61
7447253 1980
9
Signal variance in computed tomography: the square root of N syndrome. 61
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 10.09 UBE2G2 RNF216

GO Terms for N Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.26 POLA1 MBTD1 L3MBTL4 L3MBTL3
2 histone binding GO:0042393 8.8 MBTD1 L3MBTL4 L3MBTL3

Sources for N Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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