Legius syndrome

Preferred Label : Legius syndrome;

Symbol : LGSS;

CISMeF acronym : NFLS; LGSS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : NFLS; Neurofibromatosis type 1-like syndrome;

Description : Legius syndrome is an autosomal dominant disorder that shows some similarities to neurofibromatosis type I (NF1; 162200), which is caused by mutation in the neurofibromin gene (613113); however, Legius syndrome is less severe. Individuals with Legius syndrome typically have multiple cafe-au-lait spots, sometimes associated with skin fold freckling, variable dysmorphic features such as hypertelorism or macrocephaly, lipomas, and mild learning disabilities or attention problems. Legius syndrome is not associated with neurofibromas, optic gliomas, Lisch nodules, or tumor predisposition. The SPRED1 gene encodes a negative regulator of the RAS-MAPK pathway, similar to neurofibromin, and thus may be considered a RASopathy (review by Brems et al., 2012).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the sprouty-related EVH1 domain-containing protein 1 gene (SPRED1, 609291.0001);

Prefixed ID : #611431;

Details

Origin ID

611431;

UMLS CUI

C1969623;

Automatic exact mappings (from CISMeF team)
- Legius syndrome [ICD-11 More detail]
- NEFL wt Allele [NCIt concept]
- SPRED1 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Legius Syndrome [NCIt concept]
- Legius syndrome [Disease (Nov.)]
- Legius syndrome [MeSH concept]
- Legius syndrome [ORDO Disease]
- Neurofibromatosis type 1-like syndrome (disorder) [SNOMED CT concept]
- legius syndrome [MeSH Supplementary Concept]
Genes related to phenotype
- Sprouty-related evh1 domain-containing protein 1 [OMIM gene]
HPO term(s)
- Abnormal sternum morphology [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Autosomal dominant inheritance [HPO term]
- Axillary freckling [HPO term]
- Cafe-au-lait spot [HPO term]
- Downslanted palpebral fissures [HPO term]
- Epicanthus [HPO term]
- Generalized hypotonia [HPO term]
- High palate [HPO term]
- High, narrow palate [HPO term]
- High-arched palate [HPO term]
- Hypertelorism [HPO term]
- Hypotonia [HPO term]
- Low posterior hairline [HPO term]
- Low-set, posteriorly rotated ears [HPO term]
- Macrocephaly [HPO term]
- Micrognathia [HPO term]
- Multiple lipomas [HPO term]
- Neurofibromas [HPO term]
- Ptosis [HPO term]
- Short neck [HPO term]
- Specific learning disability [HPO term]
- Triangular face [HPO term]
- triangular face with age [HPO term]
ORDO concept(s)
- Legius syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Legius Syndrome [NCIt concept]
- Legius syndrome [ORDO Disease]
- Legius syndrome [MeSH concept]
- Legius syndrome [Disease (Nov.)]
- Neurofibromatosis type 1-like syndrome (disorder) [SNOMED CT concept]
- legius syndrome [MeSH Supplementary Concept]

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