Werner syndrome

Preferred Label : Werner syndrome;

Symbol : WRN;

CISMeF acronym : WRN;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the RecQ protein-like 2 gene (RECQL2, 604611.0001);

Neoplasia : Malignancy in approximately 10%; Osteosarcoma and meningioma especially;

Laboratory abnormalities : Variegated translocation mosaicism in cultured fibroblasts; Poor mitogenic response to growth factors;

Prefixed ID : #277700;

Details

Origin ID

277700;

UMLS CUI

C0043119;

Currated CISMeF NLP mapping
- Werner Syndrome [NCIt concept]
- Werner syndrome [PASCAL descriptor]
- Werner syndrome [DO Concept]
- Werner syndrome [Disease (Nov.)]
- Werner syndrome [ICD-11 More detail]
- Werner syndrome [ORDO Disease]
- Werner syndrome (disorder) [SNOMED CT concept]
- Werner's syndrome [MedDRA Preferred Term]
- werner syndrome [MeSH Descriptor]
- werner syndrome [MeSH concept]
- werner syndrome [SNOMED Notion]
DO Cross reference
- Werner syndrome [DO Concept]
Genes related to phenotype
- Recq protein-like 2 [OMIM gene]
HPO term(s)
- Abnormal hair morphology [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
- Convex nasal ridge [HPO term]
- Diabetes mellitus [HPO term]
- Hypogonadism [HPO term]
- Meningioma [HPO term]
- Osteoporosis [HPO term]
- Osteosarcoma [HPO term]
- Premature arteriosclerosis [HPO term]
- Progeroid facial appearance [HPO term]
- Retinal degeneration [HPO term]
- Scleroderma [HPO term]
- Short stature [HPO term]
- Subcutaneous calcification [HPO term]
ORDO concept(s)
- Werner syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Werner Syndrome [NCIt concept]
- Werner syndrome [ORDO Disease]
- Werner syndrome [DO Concept]
- Werner syndrome [PASCAL descriptor]
- Werner syndrome [Disease (Nov.)]
- Werner syndrome (disorder) [SNOMED CT concept]
- Werner's syndrome [MedDRA Preferred Term]
- werner syndrome [SNOMED Notion]
- werner syndrome [MeSH Descriptor]
- werner syndrome [MeSH concept]

Keyword's position in hierarchy(ies) :

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