{"orpha":902,"name":"Werner syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Adult progeria","WS"],"definition":"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.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-902/","orphanet_url":"https://www.orpha.net/en/disease/detail/902","names":{"fr":{"name":"Syndrome de Werner","synonyms":["Progéria de l'adulte","WS"],"definition":"Le syndrome de Werner (SW) est un syndrome héréditaire rare caractérisé par un vieillissement précoce qui apparaît au cours de la trentaine avec pour caractéristiques principales une cataracte bilatérale, une petite taille, des cheveux prématurément gris et fins, des maladies cutanées et l'apparition d'autres anomalies liées au vieillissement."},"de":{"name":"Werner-Syndrom","synonyms":["Progerie, adulte"],"definition":"Das Werner-Syndrom (WS) ist ein seltenes vererbtes Syndrom und gekennzeichnet durch vorzeitiges Altern mit Beginn im dritten Lebensjahrzehnt. Klinische Kardinalsymptome sind beidseitige Katarakt, Kleinwuchs, ergrautes und ausgedünntes Kopfhaar, charakteristische Hautveränderungen und vorzeitiger Beginn weiterer altersabhängiger Störungen."},"es":{"name":"Síndrome de Werner","synonyms":["Progeria adulta","SW"],"definition":"El síndrome de Werner (SW) es un síndrome hereditario poco frecuente caracterizado por un envejecimiento prematuro con aparición en la tercera década de la vida y rasgos clínicos cardinales, incluyendo cataratas bilaterales, baja estatura, encanecimiento y disminución del cabello del cuero cabelludo, trastornos de piel característicos y prematura aparición de otros trastornos relacionados con la edad."},"it":{"name":"Sindrome di Werner","synonyms":["Progeria dell'adulto","WS"],"definition":"La sindrome di Werner (WS) è una rara sindrome ereditaria caratterizzata da invecchiamento precoce a esordio nella terza decade di vita e da alcuni segni clinici cardinali: cataratta bilaterale, bassa statura, incanutimento e diradamento dei capelli, difetti cutanei caratteristici ed esordio precoce di altri disturbi associati all'avanzare dell'età."},"nl":{"name":"Syndroom van Werner","synonyms":["Adulte progeria","WS"],"definition":"Het Wernersyndroom (WS) is een zeldzaam hereditair syndroom gekenmerkt door vroegtijdige veroudering die aanvangt in het derde levensdecennium en duidelijke klinische kenmerken vertoont, zoals bilaterale cataracten, kleine gestalte, grijs worden en uitdunnen van het hoofdhaar, kenmerkende huidaandoeningen en vroegtijdige aanvang van additionele leeftijdsgerelateerde aandoeningen."},"pt":{"name":"Síndrome Werner","definition":"A Síndrome de Werner (WS) é uma síndrome rara, hereditária, caracterizada por envelhecimento prematuro, com início na terceira década de vida e com características clínicas cardinais, incluindo catarata bilateral, baixa estatura, embranquecimento e enfraquecimento do cabelo, doenças de pele características e início precoce de alterações adicionais relacionadas com a idade."},"pl":{"name":"Zespół Wernera","synonyms":["Progeria dorosłych","WS"]},"cs":{"name":"Wernerův syndrom","synonyms":["Adultní progérie","WS"]},"uk":{"name":"Синдром Вернера","synonyms":["Прогерія у дорослих","WS"],"definition":"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."},"zh":{"name":"Werner综合征","synonyms":["成人早衰"]},"tr":{"name":"Werner sendromu","synonyms":["WS","Erişkin progeria"]}},"xrefs":[{"source":"OMIM","code":"277700","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E34.8","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"LD2B","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1864550134"},{"source":"MONDO","code":"0010196","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D014898","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0043119","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7885","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10049429","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183570,"name":"Genetic malformation syndrome with short stature","classifications":[156]},{"orpha":363245,"name":"Genetic progeroid syndrome","classifications":[156]},{"orpha":222628,"name":"Hereditary poikiloderma","classifications":[156,187]},{"orpha":139021,"name":"Malformation syndrome with short stature","classifications":[147]},{"orpha":183422,"name":"Polymalformative genetic syndrome with increased risk of developing cancer","classifications":[156,202]},{"orpha":79389,"name":"Premature aging","classifications":[156,187]},{"orpha":139033,"name":"Progeroid syndrome","classifications":[147]},{"orpha":139027,"name":"Rare developmental defect with skin/mucosae involvement","classifications":[147,156]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[{"symbol":"WRN","name":"WRN RecQ like helicase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301687[PMID]_16673358[PMID]","hgnc":"12791","ensembl":"ENSG00000165392","omim":"604611","loci":["8p12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.5,"area":"United States","status":"Validated","source":"10484259[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.0,"area":"Japan","status":"Validated","source":"10347997[PMID]_[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.0,"area":"Specific population","status":"Validated","source":"17478382[PMID]_[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.5,"area":"Europe","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0010721","label":"Abnormal hair whorl","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000765","label":"Abnormal thorax morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001608","label":"Abnormality of the voice","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000444","label":"Convex nasal ridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100578","label":"Lipoatrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003777","label":"Pili torti","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002216","label":"Premature graying of hair","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0007495","label":"Prematurely aged appearance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001533","label":"Slender build","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002209","label":"Sparse scalp hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002211","label":"White forelock","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000035","label":"Abnormal testis morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008065","label":"Aplasia/Hypoplasia of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010468","label":"Aplasia/Hypoplasia of the testes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002621","label":"Atherosclerosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000934","label":"Chondrocalcinosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000144","label":"Decreased fertility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000962","label":"Hyperkeratosis","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0011001","label":"Increased bone mineral density","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000855","label":"Insulin resistance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100679","label":"Lack of skin elasticity","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0009125","label":"Lipodystrophy","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001658","label":"Myocardial infarction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000275","label":"Narrow face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004415","label":"Pulmonary artery stenosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001838","label":"Rocker bottom foot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0200055","label":"Small hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007618","label":"Subcutaneous calcification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100585","label":"Telangiectasia of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005978","label":"Type II diabetes mellitus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100659","label":"Abnormality of the cerebral vasculature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012060","label":"Acral lentiginous melanoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003002","label":"Breast carcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012056","label":"Cutaneous melanoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002672","label":"Gastrointestinal carcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001601","label":"Laryngomalacia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002861","label":"Melanoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002858","label":"Meningioma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002664","label":"Neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100526","label":"Neoplasm of the lung","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100649","label":"Neoplasm of the oral cavity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100833","label":"Neoplasm of the small intestine","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100615","label":"Ovarian neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009726","label":"Renal neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100242","label":"Sarcoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000869","label":"Secondary amenorrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005268","label":"Spontaneous abortion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002860","label":"Squamous cell carcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002890","label":"Thyroid carcinoma","frequency":"Occasional (29-5%)","criteria":null}]}}