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
Disease Ontology
DOID:3490
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 1 - 10 of 11 in total
Gene ID Gene Symbol Description Source
867 CBL Cbl proto-oncogene
2160 F11 coagulation factor XI
3483 IGFALS insulin like growth factor binding protein acid labile subunit
3845 KRAS KRAS proto-oncogene, GTPase
5054 SERPINE1 serpin family E member 1
5327 PLAT plasminogen activator, tissue type
5340 PLG plasminogen
5781 PTPN11 protein tyrosine phosphatase non-receptor type 11
5894 RAF1 Raf-1 proto-oncogene, serine/threonine kinase
6654 SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1
Displaying all 8 entries
Gene ID Gene Symbol Description Source
12402 Cbl Casitas B-lineage lymphoma
16005 Igfals insulin-like growth factor binding protein, acid labile subunit
16653 Kras Kirsten rat sarcoma viral oncogene homolog
18791 Plat plasminogen activator, tissue
18815 Plg plasminogen
19247 Ptpn11 protein tyrosine phosphatase, non-receptor type 11
54169 Kat6b K(lysine) acetyltransferase 6B
109821 F11 coagulation factor XI
Displaying all 3 entries
Gene ID Gene Symbol Description Source
24617 Serpine1 serpin family E member 1
25692 Plat plasminogen activator, tissue type
79438 Igfals insulin-like growth factor binding protein, acid labile subunit
Displaying 1 entry
Gene ID Gene Symbol Description Source
37859 enok enoki mushroom
Displaying 1 entry
Gene ID Gene Symbol Description Source
178672 srp-3 Serpin domain-containing protein
Displaying 1 entry
Gene ID Gene Symbol Description Source
851019 CDC25 Ras family guanine nucleotide exchange factor CDC25

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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: December 9, 2024