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

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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:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 618499

OMIM Phenotypic Series ⁵⁶ PS163950

MeSH ⁴³ D009634

MedGen ⁴¹ C5193130 CN260594

SNOMED-CT via HPO ⁶⁸ 11934000 194021007 22006008 more

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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)

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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
Noonan Syndrome 12

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Symptoms & Phenotypes for Noonan Syndrome 11

Human phenotypes related to Noonan Syndrome 11:

³¹ (show all 13)

#	Description	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

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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

Genetic tests related to Noonan Syndrome 11:

#	Genetic test	Affiliating Genes
1	Noonan Syndrome 11 ²⁹

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Anatomical Context for Noonan Syndrome 11

MalaCards organs/tissues related to Noonan Syndrome 11:

⁴⁰

Heart, Skin

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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. ⁶ ⁵⁶	Suzuki H...Kosaki K	31173466	2019
2	Elucidation of MRAS-mediated Noonan syndrome with cardiac hypertrophy. ⁶ ⁵⁶	Higgins EM...Ackerman MJ	28289718	2017
3	SHOC2-MRAS-PP1 complex positively regulates RAF activity and contributes to Noonan syndrome pathogenesis. ⁶	Young LC...Rodriguez-Viciana P	30348783	2018
4	Mutation-specific RAS oncogenicity explains NRAS codon 61 selection in melanoma. ⁶	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). ⁶	Authors/Task Force members...Watkins H	25173338	2014
6	Noonan syndrome: clinical features, diagnosis, and management guidelines. ⁶	Romano AA...Noonan JA	20876176	2010
7	Leopard syndrome. ⁶	Sarkozy A...Dallapiccola B	18505544	2008
8	Noonan Syndrome ⁶	Allanson JE...Roberts AE	20301303	2001
9	Physiological and genomic insights into the lifestyle of arsenite-oxidizing Herminiimonas arsenitoxidans. ⁶¹	Koh HW...Park SJ	29101383	2017
10	Heterologous interactions between NS1 proteins from different influenza A virus subtypes/strains. ⁶¹	Li W...Li K	22744180	2012
11	Characterization of two aerobic ultramicrobacteria isolated from urban soil and a description of Oxalicibacterium solurbis sp. nov. ⁶¹	Sahin N...Hill JE	20370834	2010
12	A novel heterogeneous nuclear ribonucleoprotein-like protein interacts with NS1 of the minute virus of mice. ⁶¹	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	1217.26	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ GeneCards inferred via : Disorders Variants (show sections)	28289718 25252692 30348783 (more) 31173466

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Variations for Noonan Syndrome 11

ClinVar genetic disease variations for Noonan Syndrome 11:

⁶ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	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
1	MRAS	p.Gly23Val	VAR_083112
2	MRAS	p.Thr68Ile	VAR_083113
3	MRAS	p.Gln71Arg	VAR_083114

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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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⁷⁴ Wikipedia

Noonan Syndrome 11 (NS11)

Aliases & Classifications for Noonan Syndrome 11

MalaCards integrated aliases for Noonan Syndrome 11:

Characteristics:

OMIM:

HPO:

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

Human phenotypes related to 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

Genetic tests related to Noonan Syndrome 11:

Anatomical Context for Noonan Syndrome 11

MalaCards organs/tissues related to 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:

UniProtKB/Swiss-Prot 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