{"orpha":624,"name":"Familial multiple nevi flammei","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Familial multiple port-wine stains"],"definition":"Familial multiple nevi flammei is a rare, genetic capillary malformation disorder characterized by dark red to purple birthmarks which manifest as flat, sharply circumscribed cutaneous lesions, typically situated in the head and neck region, in various members of a single family. The lesions grow proportionally with the individual, change in color and often thicken with age.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-624/","orphanet_url":"https://www.orpha.net/en/disease/detail/624","names":{"fr":{"name":"Naevus en tache de vin multiples familiaux","synonyms":["Naevus flammeus multiples familiaux"],"definition":"Les nævus en tache de vin multiples familiaux sont un trouble génétique rare, malformatif des capillaires, caractérisé par des tâches de naissance rouge foncé à violettes, et qui se manifestent par des lésions cutanées plates, bien circonscrites, touchant habituellement la région de la tête et du cou chez plusieurs membres d'une même famille. Les lésions croissent de manière proportionnelle à l'individu. Elles changent de couleur et s'épaississent parfois avec l'âge."},"de":{"name":"Familiäre multiple Naevi flammei","synonyms":["Multiple familiäre Portwein-Flecken"],"definition":"Familiäre multiple Naevi flammei stellen eine seltene, genetisch bedingte Kapillarfehlbildung dar, die durch dunkelrote bis violette Muttermale gekennzeichnet ist und sich als flache, scharf umschriebene Hautläsionen, die sich typischerweise im Kopf- und Halsbereich befinden, in verschiedenen Mitgliedern einer einzigen Familie manifestiert. Die Läsionen wachsen proportional mit dem Individuum, verändern sich in der Farbe und werden mit zunehmendem Alter oft dicker."},"es":{"name":"Nevus flammeus múltiple familiar","synonyms":["Nevo flamigero múltiple familiar"],"definition":"El nevus flammeus múltiple familiar es un trastorno genético poco frecuente que da lugar a una malformación capilar caracterizada por unas marcas de nacimiento de color rojo oscuro a violeta que se manifiestan como lesiones cutáneas planas, claramente circunscritas, típicamente situadas en la región de la cabeza y el cuello, en varios miembros de una sola familia. Las lesiones crecen proporcionalmente con el individuo, cambian de color y a menudo se engrosan con la edad."},"it":{"name":"Nevi flammei multipli familiari","synonyms":["Macchie vino-Porto multiple familiari"],"definition":"I nevi flammei multipli familiari sono una malattia genetica rara da anomalie dei capillari, caratterizzata dalla presenza di voglie di colore rosso scuro o violacee; la malattia compare in più soggetti della stessa famiglia con lesioni cutanee piatte nettamente delimitate, che di solito si localizzano sulla testa e sul collo. Le lesioni crescono in maniera proporzionale allo sviluppo del paziente, cambiando di colore e spesso si ispessiscono con il passare degli anni."},"nl":{"name":"Familiale multipele naevi flammei","synonyms":["Familiale meervoudige wijnvlekken"],"definition":"Familiale multipele naevi flammei is een zeldzame, genetische capillaire malformatie die wordt gekarakteriseerd door donkerrode tot paarse moedervlekken die zich vertonen als platte, scherp begrensde huidletsels, doorgaans gesitueerd in de hoofd- en nekregio, in verscheidene leden van een enkele familie. De letsels groeien proportioneel met het individu, veranderen van kleur en verdikken vaak met de leeftijd."},"pt":{"name":"Nevi flammei múltiplo familiar","synonyms":["Nevo vinho do Porto"]},"pl":{"name":"Rodzinne mnogie znamiona płomieniste","synonyms":["Rodzinne mnogie znamiona typu winnej plamy"]},"cs":{"name":"Familiární mnohočetné nevi flammei","synonyms":["Familial multiple port-wine stains"]},"uk":{"name":"Сімейні множинні полумяні невуси","synonyms":["Сімейні множинні винні плями"],"definition":"Familial multiple nevi flammei is a rare, genetic capillary malformation disorder characterized by dark red to purple birthmarks which manifest as flat, sharply circumscribed cutaneous lesions, typically situated in the head and neck region, in various members of a single family. The lesions grow proportionally with the individual, change in color and often thicken with age."},"zh":{"name":"家族性多发性鲜红斑痣","synonyms":["家族性多发性葡萄酒色痣"]},"tr":{"name":"Ailesel çoklu alevli nevüs","synonyms":["Ailesel çoklu porto-şarabı lekeleri"]}},"xrefs":[{"source":"OMIM","code":"163000","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LC50","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008094","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535816","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931029","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3986","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10067193","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":183478,"name":"Genetic skin vascular disorder","classifications":[156]},{"orpha":459526,"name":"Rare genetic capillary malformation","classifications":[156]},{"orpha":79379,"name":"Skin vascular disease","classifications":[187]},{"orpha":723264,"name":"Syndromic port-wine capillary malformation","classifications":[147,198]}],"children":[],"genes":[{"symbol":"GNAQ","name":"G protein subunit alpha q","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"23656586[PMID]","hgnc":"4390","ensembl":"ENSG00000156052","omim":"600998","loci":["9q21.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[],"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:0001034","label":"Hypermelanotic macule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007400","label":"Irregular hyperpigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001052","label":"Nevus flammeus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200034","label":"Papule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001291","label":"Abnormal cranial nerve morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002814","label":"Abnormality of the lower limb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002817","label":"Abnormality of the upper limb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002514","label":"Cerebral calcification","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000969","label":"Edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001269","label":"Hemiparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002301","label":"Hemiplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002170","label":"Intracranial hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100559","label":"Lower limb asymmetry","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002204","label":"Pulmonary embolism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005293","label":"Venous insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004936","label":"Venous thrombosis","frequency":"Occasional (29-5%)","criteria":null}]}}