{"orpha":758,"name":"Pseudoxanthoma elasticum","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Gronblad-Strandberg-Touraine syndrome","PXE"],"definition":"A rare, genetic, metabolic disease with connective tissue and eye involvement, characterized by progressive ectopic mineralization and fragmented elastic fibers in the skin, retina and vascular walls.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-758/","orphanet_url":"https://www.orpha.net/en/disease/detail/758","names":{"fr":{"name":"Pseudoxanthome élastique","synonyms":["PXE","Syndrome de Gronblad-Strandberg-Touraine"],"definition":"Maladie métabolique rare, d'origine génétique, avec atteinte du tissu conjonctif et des yeux, caractérisée par une calcification ectopique progressive et une fragmentation des fibres élastiques de la peau, de la rétine et des parois artérielles."},"de":{"name":"Pseudoxanthoma elasticum","definition":"Eine seltene genetische Stoffwechselerkrankung mit Bindegewebs- und Augenbeteiligung, die durch fortschreitende ektopische Mineralisierung und fragmentierte elastische Fasern in Haut, Netzhaut und Gefäßwänden gekennzeichnet ist."},"es":{"name":"Pseudoxantoma elástico","definition":"Es una enfermedad metabólica de origen genético y poco frecuente con afectación del tejido conectivo y de los ojos, caracterizada por mineralización ectópica progresiva y fibras elásticas fragmentadas en la piel, la retina y las paredes vasculares."},"it":{"name":"Pseudoxantoma elastico","definition":"Lo pseudoxantoma elastico (PXE) è una malattia metabolica genetica rara, che interessa il tessuto connettivo e gli occhi, caratterizzata dalla progressiva mineralizzazione ectopica e dalla frammentazione delle fibre elastiche della cute, della retina e delle pareti vascolari."},"nl":{"name":"Pseudoxanthoma elasticum","synonyms":["PXE","Syndroom van Gronblad-Strandberg-Touraine"],"definition":"Een zeldzame, genetische metabole aandoening met betrokkenheid van bindweefsel en oog, gekarakteriseerd door progressieve ectopische mineralisatie en gefragmenteerde elastische vezels in huid, netvlies en vaatwanden."},"pt":{"name":"Pseudoxantoma elástico"},"pl":{"name":"Kępki żółte rzekome","synonyms":["PXE","Zespół Gronblada, Strandberga i Touraine'a"]},"cs":{"name":"Pseudoxanthoma elasticum","synonyms":["PXE","Gronbladův-Strandbergův-Touraineův syndrom","Gronblad-Strandberg-Touraineův syndrom"]},"uk":{"name":"Псевдоксантома еластична","synonyms":["Синдром Гронблада-Страндберга-Турена","PXE"],"definition":"A rare, genetic, metabolic disease with connective tissue and eye involvement, characterized by progressive ectopic mineralization and fragmented elastic fibers in the skin, retina and vascular walls."},"zh":{"name":"弹性假黄色瘤","synonyms":["Gronblad-Strandberg-Touraine综合症"]},"tr":{"name":"Psödoksantoma elastikum","synonyms":["PXE","Gronblad-Strandberg-Touraine sendromu"]}},"xrefs":[{"source":"OMIM","code":"177850","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"264800","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"EC40","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1516160852"},{"source":"MONDO","code":"0009925","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"9925","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D011561","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0033847","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9643","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10037150","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":217635,"name":"Familial restrictive cardiomyopathy","classifications":[146,156]},{"orpha":183503,"name":"Genetic central nervous system and retinal vascular disease","classifications":[156]},{"orpha":228215,"name":"Genetic dermis elastic tissue disorder","classifications":[156,187]},{"orpha":71281,"name":"Rare central nervous system and retinal vascular disease","classifications":[181]},{"orpha":139030,"name":"Rare developmental defect with connective tissue involvement","classifications":[147,156]},{"orpha":139027,"name":"Rare developmental defect with skin/mucosae involvement","classifications":[147,156]},{"orpha":506213,"name":"Rare disorder potentially indicated for kidney transplant","classifications":[233]},{"orpha":716427,"name":"Rare disorder with progressive predominantly macular disorder as a major feature","classifications":[156,189]},{"orpha":156629,"name":"Rare genetic cause of hypertension","classifications":[156,188]}],"children":[],"genes":[{"symbol":"ABCC6","name":"ATP binding cassette subfamily C member 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20032990[PMID]_20301292[PMID]","hgnc":"57","ensembl":"ENSG00000091262","omim":"603234","loci":["16p13.11"]},{"symbol":"ENPP1","name":"ectonucleotide pyrophosphatase/phosphodiesterase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25615550[PMID]","hgnc":"3356","ensembl":"ENSG00000197594","omim":"173335","loci":["6q23.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.5,"area":"Europe","status":"Validated","source":"22209248[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-07-03","source":"20301292[PMID]_28486967[PMID]","terms":[{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","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:0000951","label":"Abnormality of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001102","label":"Angioid streaks of the fundus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100545","label":"Arterial stenosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007392","label":"Excessive wrinkled skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100679","label":"Lack of skin elasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000573","label":"Retinal hemorrhage","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000488","label":"Retinopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000474","label":"Thickened nuchal skin fold","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000978","label":"Bruising susceptibility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025473","label":"Hyperpigmented papule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004417","label":"Intermittent claudication","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001582","label":"Redundant skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0033027","label":"Retinal peau d'orange","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001065","label":"Striae distensae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000765","label":"Abnormal thorax morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004306","label":"Abnormality of the endocardium","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001872","label":"Abnormality of thrombocytes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001681","label":"Angina pectoris","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001650","label":"Aortic valve stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000592","label":"Blue sclerae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002514","label":"Cerebral calcification","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011506","label":"Choroidal neovascularization","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002239","label":"Gastrointestinal hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000974","label":"Hyperextensible skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012508","label":"Metamorphopsia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001634","label":"Mitral valve prolapse","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001012","label":"Multiple lipomas","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000121","label":"Nephrocalcinosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002172","label":"Postural instability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100817","label":"Renovascular hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001723","label":"Restrictive cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001297","label":"Stroke","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001482","label":"Subcutaneous nodule","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001645","label":"Sudden cardiac death","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100585","label":"Telangiectasia of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002326","label":"Transient ischemic attack","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Occasional (29-5%)","criteria":null}]}}