NS3
MCID: NNN010
MIFTS: 22

Noonan Syndrome 3 (NS3) malady

Summaries for Noonan Syndrome 3

Sources:
43NIH Rare Diseases, 47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
NIH Rare Diseases:43 Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. characteristics of the syndrome include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, skeletal malformations, and developmental delay. noonan syndrome may be caused by mutations in any one of several genes including the ptpn11, kras, raf1, sos1, nras and braf genes. it is sometimes referred to as a specific subtype based on the specific, mutated gene that causes the syndrome in an affected individual. it is typically inherited in an autosomal dominant manner, although in many individuals with noonan syndrome, the mutation occurs for the first time and neither of the parents has the condition. last updated: 9/28/2012

MalaCards: Noonan Syndrome 3, also known as kras gene related noonan syndrome, is related to hepatitis a and hepatitis c. An important gene associated with Noonan Syndrome 3 is KRAS (Kirsten rat sarcoma viral oncogene homolog). Affiliated tissues include heart.

Description from OMIM:47 609942

Aliases & Classifications for Noonan Syndrome 3

Sources:
43NIH Rare Diseases, 22GTR, 47OMIM, 61UMLS
See all sources

Aliases & Descriptions:

noonan syndrome 3 43 22 47 61
kras gene related noonan syndrome 43
ns3 43


Related Diseases for Noonan Syndrome 3

Sources:
17GeneCards, 18GeneDecks
See all sources

Graphical network of diseases related to Noonan Syndrome 3:



Diseases related to noonan syndrome 3

Clinical Features for Noonan Syndrome 3

Sources:
47OMIM
See all sources

Clinical features from OMIM:

609942

Drugs & Therapeutics for Noonan Syndrome 3

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Noonan Syndrome 3

Drug clinical trials:

Search ClinicalTrials for Noonan Syndrome 3

Search NIH Clinical Center for Noonan Syndrome 3

Search CenterWatch for Noonan Syndrome 3

Genetic Tests for Noonan Syndrome 3

Sources:
22GTR
See all sources

Genetic tests related to Noonan Syndrome 3:

id Genetic test Affiliating Genes
1 Noonan Syndrome 322

Anatomical Context for Noonan Syndrome 3

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Noonan Syndrome 3:

33
Heart

Animal Models for Noonan Syndrome 3 or affiliated genes

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Noonan Syndrome 3

Sources:
51PubMed
See all sources

Articles related to Noonan Syndrome 3:

idTitleAuthorsYear
1
Microduplication of 3p25.2 encompassing RAF1 associated with congenital heart disease suggestive of Noonan syndrome. (22786616)
2012

Genetic Variations for Noonan Syndrome 3

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Noonan Syndrome 3:

63
id Symbol AA change Variation SNP ID
1KRASp.Val14IleVAR_026109
2KRASp.Thr58IleVAR_026111
3KRASp.Gln22ArgVAR_064851
4KRASp.Pro34LeuVAR_064852
5KRASp.Pro34GlnVAR_064853
6KRASp.Ile36MetVAR_064854
7KRASp.Lys5GluVAR_065144
8KRASp.Gly60SerVAR_065146

Expression for genes affiliated with Noonan Syndrome 3

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Noonan Syndrome 3

Search GEO for disease gene expression data for Noonan Syndrome 3.

Pathways for genes affiliated with Noonan Syndrome 3

Compounds for genes affiliated with Noonan Syndrome 3

GO Terms for genes affiliated with Noonan Syndrome 3

Products for genes affiliated with Noonan Syndrome 3

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Noonan Syndrome 3

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet