{"orpha":2875,"name":"Phakomatosis pigmentovascularis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare skin disease characterized by the co-occurrence of a widespread vascular nevus (typically nevus flammeus) and a pigmentary nevus, potentially associated with a variety of other cutaneous nevi, and with or without extracutaneous (most commonly central nervous system, ocular, or musculoskeletal) involvement. Several subtypes are distinguished based on phenotypic characteristics.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2875/","orphanet_url":"https://www.orpha.net/en/disease/detail/2875","names":{"fr":{"name":"Phacomatose pigmento-vasculaire","definition":"Maladie rare de la peau caractérisée par l'association d'un nævus vasculaire étendu (généralement un nævus flammeus) et d'un nævus pigmentaire, éventuellement associés à une variété d'autres nævi cutanés, et avec ou sans atteinte extracutanée (le plus souvent du système nerveux central, des yeux ou du système musculosquelettique). On distingue plusieurs sous-types en fonction des caractéristiques phénotypiques."},"de":{"name":"Phakomatosis pigmentovascularis","definition":"Eine seltene Hauterkrankung, die durch das gleichzeitige Auftreten eines ausgedehnten vaskulären Nävus (typischerweise Naevus flammeus) und eines pigmentären Nävus gekennzeichnet ist, möglicherweise in Verbindung mit einer Vielzahl anderer kutaner Nävi und mit oder ohne extrakutaner Beteiligung (am häufigsten des zentralen Nervensystems, der Augen oder des Bewegungsapparats). Auf der Grundlage phänotypischer Merkmale werden mehrere Subtypen unterschieden."},"es":{"name":"Facomatosis pigmentovascular","definition":"Es una enfermedad cutánea poco frecuente caracterizada por la co-ocurrencia de un nevo vascular extenso (típicamente nevus flammeus) y un nevo pigmentario, potencialmente asociados a una variedad de otros nevos cutáneos y con o sin afectación extracutánea (con mayor frecuencia del sistema nervioso central, ocular o musculoesquelética). Se distinguen varios subtipos en función de las características fenotípicas."},"it":{"name":"Facomatosi pigmento-vascolare","definition":"Si tratta di una malattia rara della cute, caratterizzata dall'insorgenza contemporanea di un nevo vascolare diffuso (di solito un nevo flammeo) e di un nevo pigmentato, potenzialmente associati ad altri nevi cutanei, con o senza interessamento extracutaneo (in genere del sistema nervoso centrale o muscoloscheletrico, oppure degli occhi). In base al fenotipo, si distinguono diversi sottotipi della malattia."},"nl":{"name":"Phakomatosis pigmentovascularis","definition":"Een zeldzame aandoening van huid, gekarakteriseerd door gelijktijdig voorkomen van wijdverspreide vasculaire naevus (doorgaans naevus flammeus) en een gepigmenteerde naevus, mogelijk geassocieerd met een breed scala van andere cutane naevi, en met of zonder extracutane betrokkenheid (meestal van centraal zenuwstelsel, oog, of musculoskeletaal stelsel). Op basis van fenotypische kenmerken worden verschillende subtypes onderscheiden."},"pt":{"name":"Facomatose pigmento-vascular"},"pl":{"name":"Fakomatoza barwnikowo-naczyniowa"},"cs":{"name":"Phakomatosis pigmentovascularis","synonyms":["Pigmentovaskulární fakomatóza"]},"uk":{"name":"Пігментосудинний факоматоз","definition":"A rare skin disease characterized by the co-occurrence of a widespread vascular nevus (typically nevus flammeus) and a pigmentary nevus, potentially associated with a variety of other cutaneous nevi, and with or without extracutaneous (most commonly central nervous system, ocular, or musculoskeletal) involvement. Several subtypes are distinguished based on phenotypic characteristics."},"zh":{"name":"色素血管性斑痣性错构瘤病"},"tr":{"name":"Fakomatoz pigmentovaskülaris"}},"xrefs":[{"source":"ICD-10","code":"Q85.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2D.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1768130414"},{"source":"MONDO","code":"0017318","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537894","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1274879","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4312","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183466,"name":"Genetic hyperpigmentation of the skin","classifications":[156]},{"orpha":79375,"name":"Hyperpigmentation of the skin","classifications":[187]},{"orpha":98196,"name":"Malformation syndrome with hamartosis","classifications":[147,156]},{"orpha":98638,"name":"Rare disease with glaucoma as a major feature","classifications":[156,189]},{"orpha":723267,"name":"Rare isolated port-wine capillary malformation","classifications":[147,198]}],"children":[{"orpha":79483,"name":"Phakomatosis cesioflammea","type":"Clinical subtype"},{"orpha":79484,"name":"Phakomatosis cesiomarmorata","type":"Clinical subtype"},{"orpha":79485,"name":"Phakomatosis spilorosea","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"GNA11","name":"G protein subunit alpha 11","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"26778290[PMID]","hgnc":"4379","ensembl":"ENSG00000088256","omim":"139313","loci":["19p13.3"],"via":{"orpha":79483,"name":"Phakomatosis cesioflammea"}},{"symbol":"GNA11","name":"G protein subunit alpha 11","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"26778290[PMID]","hgnc":"4379","ensembl":"ENSG00000088256","omim":"139313","loci":["19p13.3"],"via":{"orpha":79484,"name":"Phakomatosis cesiomarmorata"}},{"symbol":"GNAQ","name":"G protein subunit alpha q","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"26778290[PMID]","hgnc":"4390","ensembl":"ENSG00000156052","omim":"600998","loci":["9q21.2"],"via":{"orpha":79483,"name":"Phakomatosis cesioflammea"}}],"inheritance":["Not applicable"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":248.0,"area":"Worldwide","status":"Validated","source":"18045734[PMID]_31148861[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"18045734[PMID]_31148861[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0100026","label":"Arteriovenous malformation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007440","label":"Generalized hyperpigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001053","label":"Hypopigmented skin patches","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001052","label":"Nevus flammeus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004349","label":"Reduced bone mineral density","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002514","label":"Cerebral calcification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000592","label":"Blue sclerae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Occasional (29-5%)","criteria":null}]}}