{"orpha":91135,"name":"Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["PXE-like syndrome","Pseudoxanthoma elasticum-like syndrome"],"definition":"A rare genetic skin disease characterized by severe skin laxity affecting the trunk and limbs.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-91135/","orphanet_url":"https://www.orpha.net/en/disease/detail/91135","names":{"fr":{"name":"Hyperlaxité de la peau par déficit en facteur de coagulation dépendant de la vitamine K","synonyms":["Syndrome PXE-like","Syndrome pseudoxanthome élastique-like"],"definition":"Maladie rare de la peau caractérisée par une hyperlaxité sévère de la peau au niveau du tronc et des membres."},"de":{"name":"Hyperlaxität der Haut durch Mangel an Vitamin K-abhängigen Koagulationsfaktoren","synonyms":["PXE-ähnliches Syndrom","Pseudoxanthoma elasticum-ähnliches Syndrom"],"definition":"Eine seltene genetisch bedingte Hauterkrankung, die durch eine starke Hauterschlaffung am Rumpf und an den Gliedmaßen gekennzeichnet ist."},"es":{"name":"Hiperlaxitud de la piel del cuerpo por deficiencia de factor de coagulación dependiente de vitamina K","synonyms":["Síndrome similar a PXE","Síndrome similar a pseudoxantoma elástico"],"definition":"Es una enfermedad cutánea genética poco frecuente caracterizada por hiperlaxitud de la piel que afecta al tronco y a las extremidades."},"it":{"name":"Iperlassità cutanea da deficit del fattore della coagulazione vitamina K-dipendente","synonyms":["Sindrome PXE-simile","Sindrome pseudoxantoma elastico-simile"],"definition":"L'iperlassità cutanea da deficit del fattore della coagulazione vitamina K-dipendente è una malattia cutanea molto rara di origine genetica, caratterizzata da grave lassità cutanea che interessa il tronco e gli arti."},"nl":{"name":"Hyperlaxiteit van huid door deficiëntie van vitamine K-afhankelijke stollingsfactor","synonyms":["PXE-achtig syndroom","Pseudoxanthoma elasticum-achtig syndroom"],"definition":"Een zeldzame genetische aandoening van huid, gekenmerkt door ernstige laxiteit van huid die romp en ledematen treft."},"pt":{"name":"Hiperlaxidão cutânea por deficiência de fatores de coagulação dependentes de vitamina K"},"pl":{"name":"Zwiększona elastyczność skóry ciała spowodowana niedoborem czynnika krzepnięcia zależnego od witaminy K","synonyms":["Zespół podobny do Pseudoxanthoma elasticum","Zespół podobny do PXE"],"definition":"Rzadka genetyczna choroba skóry charakteryzująca się znaczną wiotkością skóry tułowia i kończyn."},"cs":{"name":"Hyperlaxita kůže způsobená deficitem vitamin K-dependentních koagulačních faktorů","synonyms":["Syndrom podobný PXE","Syndrom podobný pseudoxanthoma elasticum"]},"uk":{"name":"Гіперлабільність шкіри тіла через дефіцит вітамін К-залежного фактора коагуляції","synonyms":["Псевдоксантомоподібний еластичний синдром","PXE-подібний синдром"],"definition":"A rare genetic skin disease characterized by severe skin laxity affecting the trunk and limbs."},"zh":{"name":"维生素K依赖性凝血因子缺乏所致身体皮肤松弛","synonyms":["弹性假黄瘤样综合征"]},"tr":{"name":"K vitaminine bağlı pıhtılaşma faktörü eksikliğine bağlı vücut derisi hiperlaksitesi","synonyms":["PXE-benzeri sendrom","Psödoksantoma elastikum-benzeri sendrom"]}},"xrefs":[{"source":"OMIM","code":"610842","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC4Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0012570","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4049241","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10076864","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":228215,"name":"Genetic dermis elastic tissue disorder","classifications":[156,187]}],"children":[],"genes":[{"symbol":"GGCX","name":"gamma-glutamyl carboxylase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17110937[PMID]","hgnc":"4247","ensembl":"ENSG00000115486","omim":"137167","loci":["2p11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive","Unknown"],"onset":["Adolescent","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":11.0,"area":"Worldwide","status":"Validated","source":"25151188[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25151188[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-06-19","source":"17110937[PMID]","terms":[{"hpo":"HP:0001928","label":"Abnormality of coagulation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000973","label":"Cutis laxa","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200034","label":"Papule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001582","label":"Redundant skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001892","label":"Abnormal bleeding","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001102","label":"Angioid streaks of the fundus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002621","label":"Atherosclerosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004944","label":"Dilatation of the cerebral artery","frequency":"Very rare (<4-1%)","criteria":null}]}}