Noonan syndrome with multiple lentigines

Summary
Synonym
  • Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome
  • Generalized lentiginosis
  • Gorlin syndrome II
  • LEOPARD syndrome
  • Lentiginosis profusa syndrome
  • Moynahan syndrome
  • Multiple lentigines syndrome
  • Progressive cardiomyopathic lentiginosis
Definition
A RASopathy that is characterized by autosomal dominant inheritance of brown skin spots called lentigines that are similar to freckles, heart defects, widely spaced eyes a sunken chest or protruding chest and short stature.
Super Class
RASopathy autosomal dominant disease
Disease Ontology
DOID:14291
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
5781 PTPN11 protein tyrosine phosphatase non-receptor type 11
Displaying 1 entry
Gene ID Gene Symbol Description Source
19247 Ptpn11 protein tyrosine phosphatase, non-receptor type 11

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International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

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