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
Download this MalaCard

Summaries for Noonan Syndrome 3

About this section


Fully expand this MalaCard
NIH Rare Diseases:42 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 based summary: Noonan Syndrome 3, also known as kras gene related noonan syndrome, is related to hepatitis and hepatitis c, and has symptoms including An important gene associated with Noonan Syndrome 3 is KRAS (Kirsten rat sarcoma viral oncogene homolog). Affiliated tissues include heart.

Description from OMIM:46 609942

Aliases & Classifications for Noonan Syndrome 3

About this section

Noonan Syndrome 3, Aliases & Descriptions:

Name: Noonan Syndrome 3 42 22 46 62
Kras Gene Related Noonan Syndrome 42
 
Ns3 42


Classifications:



Related Diseases for Noonan Syndrome 3

About this section

Graphical network of diseases related to Noonan Syndrome 3:



Diseases related to noonan syndrome 3

Symptoms for Noonan Syndrome 3

About this section


Clinical features from OMIM:

609942

HPO human phenotypes related to Noonan Syndrome 3:

(show all 14)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 hypertelorism HP:0000316
3 low-set ears HP:0000369
4 anteverted nares HP:0000463
5 webbed neck HP:0000465
6 global developmental delay HP:0001263
7 ventricular septal defect HP:0001629
8 pulmonic stenosis HP:0001642
9 frontal bossing HP:0002007
10 short nose HP:0003196
11 short stature HP:0004322
12 sagittal craniosynostosis HP:0004442
13 atrial septal aneurysm HP:0011995
14 juvenile myelomonocytic leukemia HP:0012209

Drugs & Therapeutics for Noonan Syndrome 3

About this section

Drug clinical trials:

Search ClinicalTrials for Noonan Syndrome 3

Search NIH Clinical Center for Noonan Syndrome 3

Genetic Tests for Noonan Syndrome 3

About this section

Genetic tests related to Noonan Syndrome 3:

id Genetic test Affiliating Genes
1 Noonan Syndrome 322

Anatomical Context for Noonan Syndrome 3

About this section

MalaCards organs/tissues related to Noonan Syndrome 3:

32
Heart

Animal Models for Noonan Syndrome 3 or affiliated genes

About this section

Publications for Noonan Syndrome 3

About this section

Variations for Noonan Syndrome 3

About this section

UniProtKB/Swiss-Prot genetic disease variations for Noonan Syndrome 3:

64
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:

6
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

About this section
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

About this section

Compounds for genes affiliated with Noonan Syndrome 3

About this section

GO Terms for genes affiliated with Noonan Syndrome 3

About this section

Products for genes affiliated with Noonan Syndrome 3

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Noonan Syndrome 3

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet