Watson syndrome

Preferred Label : Watson syndrome;

Symbol : WTSN;

CISMeF acronym : WTSN;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Pulmonic stenosis with cafe-au-lait spots; Cafe-au-lait spots with pulmonic stenosis;

Description : Watson syndrome is an autosomal dominant disorder characterized by pulmonic stenosis, cafe-au-lait spots, decreased intellectual ability (Watson, 1967), and short stature (Partington et al., 1985). Most affected individuals have relative macrocephaly and Lisch nodules and about one-third of those affected have neurofibroma (Allanson et al., 1991).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutations in the neurofibromin gene (NF1, 162200.0010);

Prefixed ID : #193520;

Détails

Origin ID

193520;

UMLS CUI

C0553586;

Automatic exact mappings (from CISMeF team)
- Hereditary coproporphyria (disorder) [SNOMED CT concept]
- Watson syndrome [PASCAL descriptor]
- Watson syndrome [ICD-11 More detail]
- hereditary coproporphyria [SNOMED Notion]
- neurofibromatosis 1 [MeSH Descriptor]
Currated CISMeF NLP mapping
- Café-au-lait macules with pulmonary stenosis (disorder) [SNOMED CT concept]
- Watson syndrome [ORDO Disease]
- pulmonic stenosis with cafe-au-lait spots [Disease (Nov.)]
- watson syndrome [MeSH concept]
Genes related to phenotype
- Neurofibromin 1 [OMIM gene]
HPO term(s)
- Abnormality of the cardiovascular system [HPO term]
- Autosomal dominant inheritance [HPO term]
- Axillary freckling [HPO term]
- Lisch nodules [HPO term]
- Multiple cafe-au-lait spots [HPO term]
- Neurofibromas [HPO term]
- Relative macrocephaly [HPO term]
- Short stature [HPO term]
ORDO concept(s)
- Watson syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Café-au-lait macules with pulmonary stenosis (disorder) [SNOMED CT concept]
- Watson syndrome [ORDO Disease]
- pulmonic stenosis with cafe-au-lait spots [Disease (Nov.)]
- watson syndrome [MeSH concept]

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