Legius syndrome

Summary
Synonym
  • LGSS
  • NF1-like syndrome
  • neurofibromatosis type 1-like syndrome
Definition
A RASopathy characterized by multiple cafe-au-lait macules and possible skin fold freckling without neurofibromas, optic gliomas, or Lisch nodules that has_material_basis_in heterozygous mutation in the SPRED1 gene on chromosome 15q14.
Super Class
RASopathy autosomal dominant disease
Disease Ontology
DOID:0070484
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
161742 SPRED1 sprouty related EVH1 domain containing 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
114715 Spred1 sprouty protein with EVH-1 domain 1, related sequence

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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