{"orpha":530,"name":"Lipoid proteinosis","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Hyalinosis cutis et mucosae","Urbach-Wiethe disease"],"definition":"Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood and, at times, neurological complications.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-530/","orphanet_url":"https://www.orpha.net/en/disease/detail/530","names":{"fr":{"name":"Protéinose lipoïde","synonyms":["Hyalinose cutanéo-muqueuse","Maladie de Urbach-Wiethe"],"definition":"Génodermatose rare caractérisée sur le plan clinique par des lésions mucocutanées, une raucité de la voix qui se développe tôt dans l'enfance, et parfois par des complications neurologiques."},"de":{"name":"Lipoidproteinose","synonyms":["Hyalinosis cutis et mucosae","Urbach-Wiethe-Krankheit"]},"es":{"name":"Proteinosis lipoidea","definition":"La proteinosis lipoidea (LiP) es una genodermatosis rara caracterizada clínicamente por lesiones mucocutáneas, aparición de ronquera en la infancia temprana y, en ocasiones, complicaciones neurológicas."},"it":{"name":"Lipoproteinosi","synonyms":["Ialinosi cutaneo-mucosa","Malattia di Urbach-Wiethe"],"definition":"La lipoproteinosi (LP) è una genodermatosi rara caratterizzata, dal punto di vista clinico, da lesioni mucocutanee, disfonia a esordio nella prima infanzia e, talvolta, da complicazioni neurologiche."},"nl":{"name":"Lipoïdproteïnose","synonyms":["Hyalinosis cutis et mucosae","Ziekte van Urbach-Wiethe"],"definition":"Lipoïdproteïnose (LP) is een zeldzame genodermatose die klinisch wordt gekarakteriseerd door mucocutaneuze letsels, heesheid die ontwikkelt tijdens de vroege kindertijd, en af en toe neurologische complicaties."},"pt":{"name":"Proteinose lipóide","synonyms":["Doença de Urbach-Wiethe","Hialinose muco-cutânea"]},"pl":{"name":"Proteinoza lipidowa","synonyms":["Choroba Urbacha i Wiethe'a","Hialinoza skóry i błon śluzowych"],"definition":"Proteinoza lipidowa (LP) jest rzadką genodermatozą, charakteryzującą się klinicznie zmianami śluzówkowo-skórnymi, chrypką rozwijającą się we wczesnym dzieciństwie, a czasami powikłaniami neurologicznymi."},"cs":{"name":"Lipoidní proteinóza","synonyms":["Hyalinosis cutis et mucosae","Urbachova-Wietheova nemoc","Urbach-Wietheova nemoc"]},"uk":{"name":"Ліпоїдний протеїноз","synonyms":["Гіаліноз шкіри та слизових оболонок","Хвороба Урбаха-Віте"],"definition":"Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood and, at times, neurological complications."},"zh":{"name":"类脂质蛋白沉积症","synonyms":["皮肤黏膜透明变性"]},"tr":{"name":"Lipoid proteinoz","synonyms":["Urbach-Wiethe hastalığı","Hyalinosis cutis et mukoza"]}},"xrefs":[{"source":"OMIM","code":"247100","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E78.8","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"LD27.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"326368380"},{"source":"MONDO","code":"0009530","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D008065","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0023795","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3268","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10051661","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79381,"name":"Other dermis disorder","classifications":[187]},{"orpha":477808,"name":"Other genetic dermis disorder","classifications":[156]},{"orpha":139027,"name":"Rare developmental defect with skin/mucosae involvement","classifications":[147,156]}],"children":[],"genes":[{"symbol":"ECM1","name":"extracellular matrix protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"17063986[PMID]_17927570[PMID]_18690317[PMID]","hgnc":"3153","ensembl":"ENSG00000143369","omim":"602201","loci":["1q21.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":500.0,"area":"Worldwide","status":"Validated","source":"26803878[PMID]"},{"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":"2016-06-01","source":null,"terms":[{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011830","label":"Abnormal oral mucosa morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000168","label":"Abnormality of the gingiva","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001061","label":"Acne","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001609","label":"Hoarse voice","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200034","label":"Papule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200039","label":"Pustule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100699","label":"Scarring","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001482","label":"Subcutaneous nodule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000179","label":"Thick lower lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001072","label":"Thickened skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000199","label":"Tongue nodules","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002293","label":"Alopecia of scalp","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000962","label":"Hyperkeratosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000171","label":"Microglossia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200043","label":"Verrucae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002514","label":"Cerebral calcification","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100582","label":"Nasal polyposis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null}]}}