Noonan syndrome

Summary
Synonym
  • Turner's phenotype, karyotype normal
Definition
A RASopathy that is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms.
Super Class
RASopathy monogenic disease
External Links
Disease Ontology
DOID:3490
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 21 - 30 of 35 in total
Gene ID Gene Symbol Description Source
5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
5291 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta
5293 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
5294 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
5621 PRNP prion protein (Kanno blood group)
5728 PTEN phosphatase and tensin homolog
8658 TNKS tankyrase
8879 SGPL1 sphingosine-1-phosphate lyase 1
9126 SMC3 structural maintenance of chromosomes 3
9365 KL klotho

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024