NS11
MCID: NNN029
MIFTS: 24

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 56 73 29 6
Ns11 56 73

Characteristics:

OMIM:

56
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). Affiliated tissues include heart and skin, and related phenotypes are global developmental delay and depressed nasal bridge

OMIM : 56 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)

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 global developmental delay 31 HP:0001263
2 depressed nasal bridge 31 HP:0005280
3 hypertelorism 31 HP:0000316
4 sensorineural hearing impairment 31 HP:0000407
5 short stature 31 HP:0004322
6 low-set ears 31 HP:0000369
7 ptosis 31 HP:0000508
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:

56
Head And Neck Eyes:
hypertelorism
ptosis
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

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

Anatomical Context for Noonan Syndrome 11

MalaCards organs/tissues related to Noonan Syndrome 11:

40
Heart, Skin

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. 6 56
31173466 2019
2
Elucidation of MRAS-mediated Noonan syndrome with cardiac hypertrophy. 6 56
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
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). 6
25173338 2014
6
Noonan syndrome: clinical features, diagnosis, and management guidelines. 6
20876176 2010
7
Leopard syndrome. 6
18505544 2008
8
Noonan Syndrome 6
20301303 2001
9
Physiological and genomic insights into the lifestyle of arsenite-oxidizing Herminiimonas arsenitoxidans. 61
29101383 2017
10
Heterologous interactions between NS1 proteins from different influenza A virus subtypes/strains. 61
22744180 2012
11
Characterization of two aerobic ultramicrobacteria isolated from urban soil and a description of Oxalicibacterium solurbis sp. nov. 61
20370834 2010
12
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 3:138091793-138091793 3:138372951-138372951
2 MRAS NM_001085049.3(MRAS):c.212A>G (p.Gln71Arg)SNV Pathogenic 635783 3:138116184-138116184 3:138397342-138397342
3 MRAS NM_001085049.3(MRAS):c.203C>T (p.Thr68Ile)SNV Likely pathogenic 635782 3:138116175-138116175 3:138397333-138397333

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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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