{"orpha":79474,"name":"Atypical Werner syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Atypical progeroid syndrome"],"definition":"A heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS) but do not carry <i>WRN</i> gene mutations. Similar to classical WS caused by <i>WRN</i> mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79474/","orphanet_url":"https://www.orpha.net/en/disease/detail/79474","names":{"fr":{"name":"Syndrome de Werner atypique","synonyms":["Progéria atypique","Syndrome progéroïde atypique"],"definition":"Le syndrome de Werner atypique fait référence à un groupe de cas hétérogènes qui ont été diagnostiqués comme syndrome de Werner mais ne sont pas porteurs des mutations qui ont lieu du gène <i>WRN<i>. Comme pour le syndrome de Werner causé par les mutations <i>WRN<i>, les patients présentent plus tôt que la population générale un aspect vieillissant ou des maladies liées à l'âge."},"de":{"name":"Werner-Syndrom, atypisches","synonyms":["Progeroid-Syndrom, atypisches"],"definition":"Als atypisches Werner-Syndrom wird eine heterogene Gruppe von Fällen bezeichnet, die klinisch als Werner-Syndrom (WS; s. dort) diagnostiziert wurden aber keine Mutationen im WRN-Gen tragen. Ähnlich wie beim klassischen WS mit WRN-Mutationen sehen die Patienten in der Regel gealtert aus und weisen im Vergleich zur Allgemeinbevölkerung häufige altersabhängige Krankheiten in einem früheren Alter auf."},"es":{"name":"Síndrome de Werner atípico","synonyms":["Síndrome progeroide atípico"],"definition":"Es un grupo heterogéneo de casos que han sido diagnosticados clínicamente como síndrome de Werner (SW) pero que no son portadores de mutaciones en el gen <i>WRN</i>. Al igual que el SW clásico causado por mutaciones en <i>WRN</i>, los pacientes muestran normalmente una apariencia envejecida y trastornos comunes relacionados con la edad a edades más tempranas en comparación con la población general."},"it":{"name":"Sindrome di Werner atipica","synonyms":["Sindrome progeroide atipica"],"definition":"La sindrome di Werner atipica comprende un gruppo eterogeneo di casi diagnosticati clinicamente come sindrome di Werner (WS; si veda questo termine), non associato alle mutazioni del gene <i>WRN</i>. Analogamente a quanto si verifica nella WS classica da mutazioni di <i>WRN</i>, i pazienti in genere presentano precocemente, rispetto alla popolazione generale, un aspetto vecchieggiante e mostrano i comuni disturbi legati all'avanzare dell'età."},"nl":{"name":"Atypisch syndroom van Werner","synonyms":["Atypisch progeroïd syndroom"],"definition":"Een heterogene groep van gevallen die klinisch gediagnosticeerd worden als syndroom van Werner (WS) maar die geen mutaties dragen in het gen <i>WRN</i>. Net als bij klassiek WS veroorzaakt door mutaties in <i>WRN</i>, vertonen patiënten doorgaans een verouderd uiterlijk en gangbare leeftijdsgerelateerde aandoeningen op jongere leeftijd in vergelijking met de algemene populatie."},"pt":{"name":"Síndrome de Werner atípico","definition":"A Síndrome de Werner atípica refere-se a um grupo heterogéneo de casos que são diagnosticados clinicamente como síndrome de Werner (WS, ver este termo), mas não apresentam mutações no gene <i> WRN </ i>. À semelhança da WS clássica causada por mutações no gene <i> WRN </ i>, os doentes geralmente apresentam uma aparência envelhecida e distúrbios comuns relacionados com a idade em idades mais precoces em comparação com a população em geral."},"pl":{"name":"Atypowy zespół Wernera","synonyms":["Atypowy zespół progeroidalny"]},"cs":{"name":"Atypický Wernerův syndrom","synonyms":["Atypický progeroidní syndrom"]},"uk":{"name":"Атиповий синдром Вернера","synonyms":["Атиповий прогероїдний синдром"],"definition":"An heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS) but do not carry <i>WRN</i> gene mutations. Similar to classical WS caused by <i>WRN</i> mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population."},"zh":{"name":"非典型Werner综合征","synonyms":["非典型性类早衰综合征"]},"tr":{"name":"Atipik Werner sendromu","synonyms":["Atipik progeroid sendrom"]}},"xrefs":[{"source":"ICD-10","code":"E34.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2B","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1661142154"},{"source":"MONDO","code":"0019321","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4275075","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"11910","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":156156,"name":"Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":363245,"name":"Genetic progeroid syndrome","classifications":[156]},{"orpha":300766,"name":"Laminopathy with premature aging","classifications":[156]},{"orpha":139033,"name":"Progeroid syndrome","classifications":[147]}],"children":[],"genes":[{"symbol":"LMNA","name":"lamin A/C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12927431[PMID]_19270485[PMID]","hgnc":"6636","ensembl":"ENSG00000160789","omim":"150330","loci":["1q22"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Unknown"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2015-11-02","source":"17711925[PMID]_23849162[PMID]_24384368[PMID]_15773753[PMID]_12629077[PMID]_14615128[PMID]_19875478[PMID]_12927431[PMID]_12927424[PMID]_22817610[PMID]_25649378[PMID]_15060110[PMID]","terms":[{"hpo":"HP:0011362","label":"Abnormal hair quantity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010721","label":"Abnormal hair whorl","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000035","label":"Abnormal testis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000765","label":"Abnormal thorax morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004361","label":"Abnormality of circulating leptin level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005109","label":"Abnormality of the Achilles tendon","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100659","label":"Abnormality of the cerebral vasculature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001595","label":"Abnormality of the hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004414","label":"Abnormality of the pulmonary artery","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001608","label":"Abnormality of the voice","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004380","label":"Aortic valve calcification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100840","label":"Aplasia/Hypoplasia of the eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008065","label":"Aplasia/Hypoplasia of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008981","label":"Calf muscle hypertrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000934","label":"Chondrocalcinosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000444","label":"Convex nasal ridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001677","label":"Coronaryartery atherosclerosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004325","label":"Decreased body weight","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000144","label":"Decreased fertility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008283","label":"Fasting hyperinsulinemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001808","label":"Fragile nails","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009064","label":"Generalized lipodystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003076","label":"Glycosuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001397","label":"Hepatic steatosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003074","label":"Hyperglycemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000842","label":"Hyperinsulinemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000962","label":"Hyperkeratosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002155","label":"Hypertriglyceridemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000831","label":"Insulin-resistant diabetes mellitus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100679","label":"Lack of skin elasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001601","label":"Laryngomalacia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100578","label":"Lipoatrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000275","label":"Narrow face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009771","label":"Osteolytic defects of the phalanges of the hand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002669","label":"Osteosarcoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007509","label":"Patchy hypo- and hyperpigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004950","label":"Peripheral arterial stenosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003777","label":"Pili torti","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005177","label":"Premature arteriosclerosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002216","label":"Premature graying of hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008209","label":"Premature ovarian insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007495","label":"Prematurely aged appearance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005328","label":"Progeroid facial appearance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000905","label":"Progressive clavicular acroosteolysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001015","label":"Prominent superficial veins","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004349","label":"Reduced bone mineral density","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001838","label":"Rocker bottom foot","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004054","label":"Sclerosis of hand bone","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000869","label":"Secondary amenorrhea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004279","label":"Short palm","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002231","label":"Sparse body hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007618","label":"Subcutaneous calcification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100585","label":"Telangiectasia of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000963","label":"Thin skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005978","label":"Type II diabetes mellitus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002211","label":"White forelock","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001650","label":"Aortic valve stenosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008419","label":"Intervertebral disc degeneration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002858","label":"Meningioma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100013","label":"Neoplasm of the breast","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100526","label":"Neoplasm of the lung","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100649","label":"Neoplasm of the oral cavity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008069","label":"Neoplasm of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100833","label":"Neoplasm of the small intestine","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100031","label":"Neoplasm of the thyroid gland","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100615","label":"Ovarian neoplasm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009726","label":"Renal neoplasm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000546","label":"Retinal degeneration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000519","label":"Developmental cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003738","label":"Exercise-induced myalgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040019","label":"Finger clinodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011001","label":"Increased bone mineral density","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001634","label":"Mitral valve prolapse","frequency":"Occasional (29-5%)","criteria":null}]}}