释义 |
Werner syndrome
Wer·ner syndrome W0094325 (vĕr′nər) or Wer·ner's syndrome (-nərz)n. An autosomal recessive disorder characterized by short stature and the appearance of premature aging after puberty, with early development of conditions such as cataracts, cardiovascular disease, osteoporosis, and malignancies. [After Carl W. Otto Werner (1879-1936), German physician.]EncyclopediaSeeWerner's syndromeWerner syndrome
Wer·ner syn·drome (wĕr'nĕr), [MIM*277700] a premature aging disorder presenting sclerodermalike skin changes, bilateral juvenile cataracts, progeria, hypogonadism, and diabetes mellitus; autosomal recessive inheritance, caused by mutation in the WRN gene, which encodes a helicase protein on chromosome 8p. Wer·ner syn·drome (wĕr'nĕr), [MIM*277700] a premature aging disorder presenting sclerodermalike skin changes, bilateral juvenile cataracts, progeria, hypogonadism, and diabetes mellitus; autosomal recessive inheritance, caused by mutation in the WRN gene, which encodes a helicase protein on chromosome 8p.Werner syndrome (vĕr′nər) or Werner's syndrome (-nərz)n. An autosomal recessive disorder characterized by short stature and the appearance of premature aging after puberty, with early development of conditions such as cataracts, cardiovascular disease, osteoporosis, and malignancies.Werner syndrome A rare autosomal recessive progeroid syndrome (OMIM:277700) characterised by premature onset of multiple age-related disorders, including atherosclerosis, cancer, type-2 diabetes, ocular cataracts, osteoporosis, and death by age 47, often due to myocardial infarction. Molecular pathology Defects of WRN, which encodes a DNA helicase responsible for maintaining genomic integrity, cause Werner syndrome.Wer·ner syn·drome (ver'ner sin'drōm) A premature aging disorder consisting of sclerodermalike skin changes, bilateral juvenile cataracts, progeria, hypogonadism, and diabetes mellitus; autosomal recessive inheritance, caused by mutation in the WRN gene, which encodes a helicase protein on chromosome 8p. Werner, Otto, German physician, 1879-1936. Werner disease - hereditary disorder characterized by premature aging. Synonym(s): progeria adultorum; Werner syndromeWerner syndrome - Synonym(s): Werner diseaseSee WRN See WRN |