Noonan Syndrome 11 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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
Genes Variations Publications Symptoms & Phenotypes Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Eye diseases Cardiovascular diseases Nephrological diseases Reproductive diseases Skin diseases Endocrine diseases Ear diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 618499 PS163950

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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).

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Related Diseases for Noonan Syndrome 11

Diseases in the Noonan Syndrome 1 family:

Noonan Syndrome 2	Noonan Syndrome 3
Noonan Syndrome 4	Noonan Syndrome 5
Noonan Syndrome 6	Noonan Syndrome 7
Noonan Syndrome 8	Noonan Syndrome 9
Noonan Syndrome 10	Noonan Syndrome 11

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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

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Drugs & Therapeutics for Noonan Syndrome 11

Search Clinical Trials , NIH Clinical Center for Noonan Syndrome 11

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Genetic Tests for Noonan Syndrome 11

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Anatomical Context for Noonan Syndrome 11

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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	Suzuki H...Kosaki K	31173466	2019
2	Elucidation of MRAS-mediated Noonan syndrome with cardiac hypertrophy. ⁸ ⁷¹	Higgins EM...Ackerman MJ	28289718	2017
3	SHOC2-MRAS-PP1 complex positively regulates RAF activity and contributes to Noonan syndrome pathogenesis. ⁷¹	Young LC...Rodriguez-Viciana P	30348783	2018
4	Mutation-specific RAS oncogenicity explains NRAS codon 61 selection in melanoma. ⁷¹	Burd CE...Sharpless NE	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	Authors/Task Force members...Watkins H	25173338	2014
6	Noonan syndrome: clinical features, diagnosis, and management guidelines. ⁷¹	Romano AA...Noonan JA	20876176	2010
7	Leopard syndrome. ⁷¹	Sarkozy A...Dallapiccola B	18505544	2008
8	Noonan Syndrome ⁷¹	Allanson JE...Roberts AE	20301303	2001
9	Physiological and genomic insights into the lifestyle of arsenite-oxidizing Herminiimonas arsenitoxidans. ³⁸	Koh HW...Park SJ	29101383	2017
10	Heterologous interactions between NS1 proteins from different influenza A virus subtypes/strains. ³⁸	Li W...Li K	22744180	2012
11	Characterization of two aerobic ultramicrobacteria isolated from urban soil and a description of Oxalicibacterium solurbis sp. nov. ³⁸	Sahin N...Hill JE	20370834	2010
12	A novel heterogeneous nuclear ribonucleoprotein-like protein interacts with NS1 of the minute virus of mice. ³⁸	Harris CE...Astell CR	9847309	1999

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Genes for Noonan Syndrome 11

Genes related to Noonan Syndrome 11 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	MRAS	Muscle RAS Oncogene Homolog	Protein Coding	900	Molecular basis known ⁵⁷ Pathogenic ⁶	25252692 30348783 28289718 (more) 31173466

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Variations for Noonan Syndrome 11

ClinVar genetic disease variations for Noonan Syndrome 11:

⁶

#	Gene	Variation	Type	Significance	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

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Expression for Noonan Syndrome 11

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

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Pathways for Noonan Syndrome 11

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GO Terms for Noonan Syndrome 11

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Sources for Noonan Syndrome 11

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⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ Wikipedia

Noonan Syndrome 11 (NS11)

Aliases & Classifications for Noonan Syndrome 11

MalaCards integrated aliases for Noonan Syndrome 11:

Characteristics:

OMIM:

Classifications:

External Ids:

Summaries for Noonan Syndrome 11

Related Diseases for Noonan Syndrome 11

Diseases in the Noonan Syndrome 1 family:

Symptoms & Phenotypes for Noonan Syndrome 11

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics 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:

Genes for Noonan Syndrome 11

Genes related to Noonan Syndrome 11 (1 elite genes):

Variations for Noonan Syndrome 11

ClinVar genetic disease variations for Noonan Syndrome 11:

Expression for Noonan Syndrome 11

Pathways for Noonan Syndrome 11

GO Terms for Noonan Syndrome 11

Sources for Noonan Syndrome 11