GlyCosmos Portal

Noonan syndrome with multiple lentigines 1

Synonym

Definition

A Noonan syndrome with multiple lentigines that has_material_basis_in heterozygous mutation in the PTPN11 gene on chromosome 12q24.

Super Class

Noonan syndrome with multiple lentigines

Disease Ontology

DOID:0080548

Mondo Disease Ontology

OMIM

Related Genes

Displaying **all 5** entries
Gene ID	Gene Symbol	Description	Source
5290	PIK3CA	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	DisGeNET
5291	PIK3CB	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta	DisGeNET
5293	PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	DisGeNET
5294	PIK3CG	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma	DisGeNET
5728	PTEN	phosphatase and tensin homolog	DisGeNET DisGeNET

Related Glycoprotein

Displaying **all 4** entries
UniProt ID	Protein Name	Source
O00329	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform	DisGeNET
P42338	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta isoform	DisGeNET
P48736	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform	DisGeNET
P60484	Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN	DisGeNET DisGeNET