Disease

Legius 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.
Synonyms
  • LGSS
  • neurofibromatosis type 1-like syndrome
Cross References
Parent Terms
Child Terms
None
Sources of Associations

Associated Genes

Gene
Species
Association
Disease Qualifier
Disease
Evidence
Based On
Source
References
Homo sapiensis implicated inLegius syndrome
  • IAGP
Rattus norvegicusis implicated via orthologyLegius syndrome
  • IEA
MGI:6194238
Mus musculusis implicated via orthologyLegius syndrome
  • IEA
MGI:6194238
Xenopus laevisis implicated via orthologyLegius syndrome
  • IEA
MGI:6194238
Xenopus laevisis implicated via orthologyLegius syndrome
  • IEA
MGI:6194238
Xenopus tropicalisis implicated via orthologyLegius syndrome
  • IEA
MGI:6194238
Danio reriois implicated via orthologyLegius syndrome
  • IEA
MGI:6194238
Drosophila melanogasteris implicated via orthologyLegius syndrome
  • IEA
MGI:6194238
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Associated Alleles

No data available

Associated Models

No data available