NS3
MCID: NNN010
MIFTS: 27

Noonan Syndrome 3 (NS3) malady

Genetic diseases, Rare diseases, Cardiovascular diseases, Eye diseases, Nephrological diseases, Reproductive diseases, Skin diseases, Endocrine diseases, Fetal diseases, Cancer diseases categories

Summaries for Noonan Syndrome 3

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44NIH Rare Diseases, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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 c and hepatitis. An important gene associated with Noonan Syndrome 3 is KRAS (Kirsten rat sarcoma viral oncogene homolog). Affiliated tissues include heart.

Description from OMIM:48 609942

Aliases & Classifications for Noonan Syndrome 3

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44NIH Rare Diseases, 23GTR, 48OMIM, 63UMLS
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Classifications:



Aliases & Descriptions:

noonan syndrome 3 44 23 48 63
kras gene related noonan syndrome 44
ns3 44


Related Diseases for Noonan Syndrome 3

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18GeneCards, 19GeneDecks
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Graphical network of diseases related to Noonan Syndrome 3:



Diseases related to noonan syndrome 3

Symptoms for Noonan Syndrome 3

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48OMIM
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Clinical features from OMIM:

609942

Drugs & Therapeutics for Noonan Syndrome 3

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Genetic Tests for Noonan Syndrome 3

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23GTR
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Genetic tests related to Noonan Syndrome 3:

id Genetic test Affiliating Genes
1 Noonan Syndrome 323

Anatomical Context for Noonan Syndrome 3

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34MalaCards
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MalaCards organs/tissues related to Noonan Syndrome 3:

34
Heart

Animal Models for Noonan Syndrome 3 or affiliated genes

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Publications for Noonan Syndrome 3

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Variations for Noonan Syndrome 3

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Noonan Syndrome 3:

65
id Symbol AA change Variation ID 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

Clinvar genetic disease variations for Noonan Syndrome 3:

1
id Gene Name Type Significance SNP ID Assembly Location
1KRASNM_004985.4(KRAS): c.458A> T (p.Asp153Val)single nucleotide variantPathogenicrs104894360GRCh37Chr 12, 25362838: 25362838
2KRASNM_033360.3(KRAS): c.173C> T (p.Thr58Ile)single nucleotide variantPathogenicrs104894364GRCh37Chr 12, 25380285: 25380285
3KRASNM_033360.3(KRAS): c.40G> A (p.Val14Ile)single nucleotide variantPathogenicrs104894365GRCh37Chr 12, 25398279: 25398279
4KRASNM_004985.4(KRAS): c.455T> G (p.Val152Gly)single nucleotide variantPathogenicrs104894367GRCh37Chr 12, 25362841: 25362841
5KRASNM_033360.3(KRAS): c.13A> G (p.Lys5Glu)single nucleotide variantPathogenicrs193929331GRCh37Chr 12, 25398306: 25398306
6KRASNM_033360.3(KRAS): c.178G> A (p.Gly60Ser)single nucleotide variantPathogenicrs104894359GRCh37Chr 12, 25380280: 25380280

Expression for genes affiliated with Noonan Syndrome 3

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Noonan Syndrome 3

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Pathways for genes affiliated with Noonan Syndrome 3

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Compounds for genes affiliated with Noonan Syndrome 3

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GO Terms for genes affiliated with Noonan Syndrome 3

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Products for genes affiliated with Noonan Syndrome 3

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Noonan Syndrome 3

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet