NS11
MCID: NNN029
MIFTS: 23

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 12 73 29 6
Ns11 57 12 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

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


HPO:

31
noonan syndrome 11:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Noonan Syndrome 11

UniProtKB/Swiss-Prot : 73 Noonan syndrome 11: A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. NS11 inheritance is autosomal dominant.

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 phenotypes are ptosis and global developmental delay

Disease Ontology : 12 A Noonan syndrome characterized by clinical characteristics of Noonan syndrome, varying impairment of intellectual development, and cardiac hypertrophy that has material basis in heterozygous mutation in MRAS on chromosome 3q22.3.

OMIM® : 57 Noonan syndrome-11 is characterized by clinical characteristics of Noonan syndrome, varying impairment of intellectual development, and a consistent cardiac phenotype of cardiac hypertrophy (Higgins et al., 2017). For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (163950). (618499) (Updated 05-Mar-2021)

Related Diseases for Noonan Syndrome 11

Symptoms & Phenotypes for Noonan Syndrome 11

Human phenotypes related to Noonan Syndrome 11:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 ptosis 31 HP:0000508
2 global developmental delay 31 HP:0001263
3 depressed nasal bridge 31 HP:0005280
4 hypertelorism 31 HP:0000316
5 sensorineural hearing impairment 31 HP:0000407
6 short stature 31 HP:0004322
7 low-set ears 31 HP:0000369
8 atrial septal defect 31 HP:0001631
9 downslanted palpebral fissures 31 HP:0000494
10 bulbous nose 31 HP:0000414
11 pulmonic stenosis 31 HP:0001642
12 posteriorly rotated ears 31 HP:0000358
13 generalized hypotonia 31 HP:0001290

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Eyes:
ptosis
hypertelorism
downslanting palpebral fissures

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

Neurologic Central Nervous System:
hypotonia
developmental delay

Growth Height:
short stature

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 (Updated 05-Mar-2021)

Drugs & Therapeutics for Noonan Syndrome 11

Search Clinical Trials , NIH Clinical Center for Noonan Syndrome 11

Genetic Tests for Noonan Syndrome 11

Genetic tests related to Noonan Syndrome 11:

# Genetic test Affiliating Genes
1 Noonan Syndrome 11 29 MRAS

Anatomical Context for Noonan Syndrome 11

Publications for Noonan Syndrome 11

Articles related to Noonan Syndrome 11:

# 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. 57 6
31173466 2019
2
Elucidation of MRAS-mediated Noonan syndrome with cardiac hypertrophy. 57 6
28289718 2017
3
SHOC2-MRAS-PP1 complex positively regulates RAF activity and contributes to Noonan syndrome pathogenesis. 6
30348783 2018
4
Mutation-specific RAS oncogenicity explains NRAS codon 61 selection in melanoma. 6
25252692 2014
5
Physiological and genomic insights into the lifestyle of arsenite-oxidizing Herminiimonas arsenitoxidans. 61
29101383 2017
6
Heterologous interactions between NS1 proteins from different influenza A virus subtypes/strains. 61
22744180 2012
7
Characterization of two aerobic ultramicrobacteria isolated from urban soil and a description of Oxalicibacterium solurbis sp. nov. 61
20370834 2010
8
A novel heterogeneous nuclear ribonucleoprotein-like protein interacts with NS1 of the minute virus of mice. 61
9847309 1999

Variations for Noonan Syndrome 11

ClinVar genetic disease variations for Noonan Syndrome 11:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MRAS NM_001085049.3(MRAS):c.68G>T (p.Gly23Val) SNV Pathogenic 635781 rs1576359216 3:138091793-138091793 3:138372951-138372951
2 MRAS NM_001085049.3(MRAS):c.203C>T (p.Thr68Ile) SNV Pathogenic 635782 rs1576387876 3:138116175-138116175 3:138397333-138397333
3 MRAS NM_001085049.3(MRAS):c.212A>G (p.Gln71Arg) SNV Pathogenic 635783 rs1576387885 3:138116184-138116184 3:138397342-138397342

UniProtKB/Swiss-Prot genetic disease variations for Noonan Syndrome 11:

73
# Symbol AA change Variation ID SNP ID
1 MRAS p.Gly23Val VAR_083112
2 MRAS p.Thr68Ile VAR_083113
3 MRAS p.Gln71Arg VAR_083114

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
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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