NS11
MCID: NNN029
MIFTS: 18

Noonan Syndrome 11 (NS11)

Categories: Cardiovascular diseases, Ear diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Reproductive diseases, Skin diseases

Aliases & Classifications for Noonan Syndrome 11

MalaCards integrated aliases for Noonan Syndrome 11:

Name: Noonan Syndrome 11 57 6
Ns11 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
based on 3 reported patients (last curated july 2019)


Classifications:



External Ids:

Summaries for Noonan Syndrome 11

OMIM : 57 Noonan syndrome-11 is characterized by clinical characteristics of Noonan syndrome, varying impairment of intellectual development, and concomitant cardiac hypertrophy (Higgins et al., 2017). For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (163950). (618499)

MalaCards based summary : Noonan Syndrome 11, is also known as ns11. An important gene associated with Noonan Syndrome 11 is MRAS (Muscle RAS Oncogene Homolog).

Related Diseases for Noonan Syndrome 11

Symptoms & Phenotypes for Noonan Syndrome 11

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
ptosis
downslanting palpebral fissures

Growth Height:
short stature

Neurologic Central Nervous System:
developmental delay
hypotonia

Head And Neck Ears:
low-set ears
posteriorly rotated ears
hearing loss, sensorineural
thick ear lobes

Cardiovascular Heart:
atrial septal defect
pulmonary valve stenosis
biventricular cardiac hypertrophy

Head And Neck Nose:
low nasal bridge
bulbous nasal tip

Clinical features from OMIM:

618499

Drugs & Therapeutics for Noonan Syndrome 11

Search Clinical Trials , NIH Clinical Center for Noonan Syndrome 11

Genetic Tests for Noonan Syndrome 11

Anatomical Context for Noonan Syndrome 11

Publications for Noonan Syndrome 11

Articles related to Noonan Syndrome 11:

(show all 12)
# Title Authors PMID Year
1
Severe Noonan syndrome phenotype associated with a germline Q71R MRAS variant: a recurrent substitution in RAS homologs in various cancers. 8 71
31173466 2019
2
Elucidation of MRAS-mediated Noonan syndrome with cardiac hypertrophy. 8 71
28289718 2017
3
SHOC2-MRAS-PP1 complex positively regulates RAF activity and contributes to Noonan syndrome pathogenesis. 71
30348783 2018
4
Mutation-specific RAS oncogenicity explains NRAS codon 61 selection in melanoma. 71
25252692 2014
5
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 71
25173338 2014
6
Noonan syndrome: clinical features, diagnosis, and management guidelines. 71
20876176 2010
7
Leopard syndrome. 71
18505544 2008
8
Noonan Syndrome 71
20301303 2001
9
Physiological and genomic insights into the lifestyle of arsenite-oxidizing Herminiimonas arsenitoxidans. 38
29101383 2017
10
Heterologous interactions between NS1 proteins from different influenza A virus subtypes/strains. 38
22744180 2012
11
Characterization of two aerobic ultramicrobacteria isolated from urban soil and a description of Oxalicibacterium solurbis sp. nov. 38
20370834 2010
12
A novel heterogeneous nuclear ribonucleoprotein-like protein interacts with NS1 of the minute virus of mice. 38
9847309 1999

Variations for Noonan Syndrome 11

ClinVar genetic disease variations for Noonan Syndrome 11:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MRAS NM_001252091.1(MRAS): c.-35-24373G> T single nucleotide variant Pathogenic 3:138091793-138091793 3:138372951-138372951
2 MRAS NM_001252091.1(MRAS): c.-26C> T single nucleotide variant Pathogenic 3:138116175-138116175 3:138397333-138397333
3 MRAS NM_001252091.1(MRAS): c.-17A> G single nucleotide variant Pathogenic 3:138116184-138116184 3:138397342-138397342

Expression for Noonan Syndrome 11

Search GEO for disease gene expression data for Noonan Syndrome 11.

Pathways for Noonan Syndrome 11

GO Terms for Noonan Syndrome 11

Sources for Noonan Syndrome 11

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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