{"orpha":363618,"name":"LMNA-related cardiocutaneous progeria syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["LCPS"],"definition":"LMNA-related cardiocutaneous progeria syndrome is a rare, genetic, premature aging syndrome characterized by adulthood-onset cutaneous manifestations that result in a prematurely aged appearance (i.e. premature thinning and graying of scalp hair, loss of subcutaneous fat, tightening of skin) associated with prominent cardiovascular manifestations, such as accelerated atherosclerosis, calcific valve disease, and cardiomyopathy. Patients present loss of eyebrows and eyelashes in childhood and have a predisposition to develop malignancies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-363618/","orphanet_url":"https://www.orpha.net/en/disease/detail/363618","names":{"fr":{"name":"Syndrome progéroïde cardio-cutané lié à LMNA","synonyms":["LCPS"],"definition":"Syndrome rare de vieillissement prématuré génétique caractérisé par des manifestations cutanées débutant à l'âge adulte à l'origine d'un aspect prématurément vieilli (apparition précoce de cheveux grisonnants et clairsemés, perte de graisse sous-cutanée, manque de souplesse cutanée) associées à d'importantes manifestations cardiovasculaires, telles qu'une athérosclérose accélérée, une calcification valvulaire et une cardiomyopathie. Les patients perdent leurs sourcils et cils pendant l'enfance et ont une prédisposition aux tumeurs malignes."},"de":{"name":"LMNA-abhängiges kardiokutanes Progerie-Syndrom","synonyms":["LCPS"]},"es":{"name":"Síndrome progeroide cardio-cutáneo asociado al gen LMNA","synonyms":["LCPS"],"definition":"Es un síndrome de envejecimiento prematuro, genético y poco frecuente, caracterizado por manifestaciones cutáneas de inicio en el adulto que dan como resultado una apariencia de envejecimiento prematuro (es decir, adelgazamiento y encanecimiento prematuro del cabello del cuero cabelludo, pérdida de grasa subcutánea, endurecimiento de la piel) asociado con manifestaciones cardiovasculares destacables, tales como aterosclerosis acelerada, calcificación de las válvulas y cardiomiopatía. Los afectados presentan pérdida de cejas y pestañas en la infancia y tienen cierta predisposición a desarrollar neoplasias."},"it":{"name":"Sindrome progeroide cardiocutanea correlata a LMNA","synonyms":["LCPS"],"definition":"La sindrome progeroide cardiocutanea correlata al gene LMNA è una malattia genetica rara da invecchiamento precoce, caratterizzata da segni clinici che esordiscono nell'età adulta e conferiscono ai pazienti un aspetto di invecchiamento precoce (assottigliamento ed incanutimento prematuro dei capelli, perdita di grasso sottocutaneo, irrigidimento della cute), associato ad evidenti segni cardiovascolari, come l'accelerazione dell'aterosclerosi, la calcificazione valvolare e la cardiomiopatia. Nell'infanzia, i pazienti mostrano la perdita delle sopracciglia e delle ciglia e suscettibilità ai tumori maligni"},"nl":{"name":"LMNA-gerelateerd cardiocutaan progeriasyndroom","synonyms":["LCPS"],"definition":"LMNA-gerelateerd cardiocutaan progeriasyndroom is een zeldzaam, genetisch syndroom met vroegtijdige veroudering, en wordt gekarakteriseerd door aanvang in de volwassenheid van cutane manifestaties die leiden tot een prematuur verouderd uiterlijk (i.e. premature verdunning en vergrijzing van het hoofdhaar, verlies van subcutaan vet, verstrakken van de huid), geassocieerd met prominente cardiovasculaire manifestaties, zoals versnelde atherosclerose, klepziekte door calcificatie, en cardiomyopathie. Patiënten presenteren zich met verlies van wenkbrauwen en wimpers in de kindertijd, en hebben een predispositie voor het ontwikkelen van maligniteiten."},"pt":{"name":"Síndrome de progeria cardiocutânea LMNA-relacionada"},"pl":{"name":"Zespół progerii sercowo-skórnej zwiaząny z LMNA","synonyms":["LCPS"],"definition":"*Zespół progerii sercowo-skórnej związany z LMNA jest rzadkim, genetycznie uwarunkowanym zespołem przedwczesnego starzenia, który charakteryzuje się objawami skórnymi o początku w wieku dorosłym, które są przyczyną starczego wyglądu (przedwczesne przerzedzenie i siwienie włosów na skórze głowy, zanik podskórnej tkanki tłuszczowej, ściągnięcie skóra), z towarzyszącymi objawami dotyczącymi układu sercowo-naczyniowego, w tym przyspieszoną miażdżycą naczyń, zwapnieniem zastawek i kardiomiopatii. Pacjenci w dzieciństwie tracą brwi i rzęsy."},"cs":{"name":"LMNA-vázaný syndrom kardiokutánní progerie","synonyms":["LCPS"]},"uk":{"name":"Синдром серцево-шкірної прогерії, повязаний з LMNA","synonyms":["LCPS"],"definition":"LMNA-related cardiocutaneous progeria syndrome is a rare, genetic, premature aging syndrome characterized by adulthood-onset cutaneous manifestations that result in a prematurely aged appearance (i.e. premature thinning and graying of scalp hair, loss of subcutaneous fat, tightening of skin) associated with prominent cardiovascular manifestations, such as accelerated atherosclerosis, calcific valve disease, and cardiomyopathy. Patients present loss of eyebrows and eyelashes in childhood and have a predisposition to develop malignancies."},"zh":{"name":"LMNA基因相关心脏皮肤早衰综合征","synonyms":["LCPS"],"definition":"LMNA相关的心脏皮肤早衰综合征是一种罕见的遗传性早衰综合征，其特征是以成年期起病的皮肤症状为特征，导致过早衰老(如头皮毛发过早稀疏和灰白、皮下脂肪丢失、皮肤变紧)，并伴有显著的心血管症状，如动脉粥样硬化加速、钙化瓣膜病和心肌病。患者在童年时出现眉毛和睫毛脱落，并易患恶性肿瘤。"},"tr":{"name":"LMNA-ilişkili kardiyokutanöz progeria sendromu","synonyms":["LCPS"]}},"xrefs":[{"source":"ICD-10","code":"E34.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018203","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4750858","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":300766,"name":"Laminopathy with premature aging","classifications":[156]},{"orpha":79389,"name":"Premature aging","classifications":[156,187]},{"orpha":97929,"name":"Rare cardiac disease","classifications":[146]},{"orpha":98054,"name":"Rare genetic cardiac disease","classifications":[156]}],"children":[],"genes":[{"symbol":"LMNA","name":"lamin A/C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23666920[PMID]","hgnc":"6636","ensembl":"ENSG00000160789","omim":"150330","loci":["1q22"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"23666920[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23666920[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-01-27","source":"23666920[PMID]","terms":[{"hpo":"HP:0011040","label":"Abnormality of the intrahepatic bile duct","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:0002223","label":"Absent eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000561","label":"Absent eyelashes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002289","label":"Alopecia universalis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012397","label":"Aortic atherosclerosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002616","label":"Aortic root aneurysm","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001650","label":"Aortic valve stenosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002671","label":"Basal cell carcinoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001677","label":"Coronaryartery atherosclerosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002097","label":"Emphysema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003124","label":"Hypercholesterolemia","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:0002170","label":"Intracranial hemorrhage","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100578","label":"Lipoatrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001653","label":"Mitral regurgitation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004382","label":"Mitral valve calcification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006766","label":"Papillary renal cell carcinoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002216","label":"Premature graying of hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100678","label":"Premature skin wrinkling","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030445","label":"Pulmonary carcinoid tumor","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100324","label":"Scleroderma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006739","label":"Squamous cell carcinoma of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001714","label":"Ventricular hypertrophy","frequency":"Very frequent (99-80%)","criteria":null}]}}