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Werner syndrome

Disease Summary
Associated Targets (6)
Tbio

5

Tchem

1


GARD Rare
Mondo Description Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders.
Uniprot Description A rare autosomal recessive progeroid syndrome characterized by the premature onset of multiple age-related disorders, including atherosclerosis, cancer, non-insulin-dependent diabetes mellitus, ocular cataracts and osteoporosis. The major cause of death, at a median age of 47, is myocardial infarction.
Disease Ontology Description An autosomal recessive disease characterized by premature aging and age-related phenotypes such as atherosclerosis, arteriosclerosis, cataracts, osteoporosis, soft tissue calcification, premature thinning, graying, and loss of hair, as well as a high incidence of some types of cancers. In 90% of the cases it is that has material basis in mutations in the WRN gene, on chromosome 8.
Mondo Term and Equivalent IDs
MONDO:0010196:  Werner syndrome
GARD:0007885: 
MESH:D014898: 
NCIT:C3447: 
Orphanet:902: 
SCTID:51626007: 
UMLS:C0043119: