{"orpha":443197,"name":"X-linked erythropoietic protoporphyria","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["X-linked dominant erythropoietic protoporphyria","X-linked dominant protoporphyria","XLDPP","XLPP"],"definition":"A rare disorder of heme metabolism characterized by severe cutaneous photosensitivity in affected boys and sometimes in girls, manifesting in childhood.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-443197/","orphanet_url":"https://www.orpha.net/en/disease/detail/443197","names":{"fr":{"name":"Protoporphyrie érythropoïétique liée à l'X","synonyms":["Protoporphyrie dominante liée à l'X","Protoporphyrie érythropoïétique dominante liée à l'X","XLDPP"],"definition":"Un trouble rare du métabolisme de l'hème caractérisé par une photosensibilité cutanée sévère chez les garçons et parfois chez les filles atteint(e)s se manifestant dans l'enfance."},"de":{"name":"Protoporphyrie, erythropoetische, X-chromosomale","synonyms":["Protoporphyrie, X-chromosomal-dominante","X-chromosomal-dominante erythropoetische Protoporphyrie","XLDPP","XLPP"],"definition":"Eine seltene Störung des Hämstoffwechsels, die durch eine starke Lichtempfindlichkeit der Haut bei betroffenen Jungen und manchmal auch bei Mädchen gekennzeichnet ist und sich im Kindesalter manifestiert."},"es":{"name":"Protoporfiria eritropoyética ligada al cromosoma X","synonyms":["Protoporfiria dominante ligada al cromosoma X","Protoporfiria eritropoyética dominante ligada al cromosoma X","XLDPP","XLPP"],"definition":"Es un trastorno poco frecuente del metabolismo del hemo caracterizado por fotosensibilidad cutánea grave en los niños afectados y, ocasionalmente, en las niñas, que se manifiesta en la infancia."},"it":{"name":"Protoporfiria eritropoietica legata all'X","synonyms":["Protoporfiria dominante legata all'X","Protoporfiria eritropoietica dominante legata all'X","XLDPP","XLPP"],"definition":"Si tratta di una malattia rara del metabolismo delle porfirine e dell'eme, che esordisce nella prima infanzia o nell'infanzia con grave fotosensibilità cutanea nei maschi affetti, e si manifesta con formicolio, bruciore e prurito entro pochi minuti dall'esposizione alla luce, spesso associati a gonfiore e arrossamento della cute. Il dolore può persistere per ore o giorni dopo la reazione iniziale. Alcuni pazienti presentano un coinvolgimento epatico e calcoli biliari. Gli esami di laboratorio evidenziano un aumento dei livelli di protoporfirina senza zinco e metallo. Nelle femmine eterozigoti il fenotipo comprende la forma asintomatica, fino alle forme più gravi."},"nl":{"name":"X-gebonden erytropoëtische protoporfyrie","synonyms":["X-gebonden dominante protoporfyrie","XLDPP","XLPP","X-gebonden dominante erytropoëtische protoporfyrie"],"definition":"Een zeldzame aandoening van metabolisme van heem, gekenmerkt door ernstige lichtgevoeligheid van huid bij getroffen jongens en soms bij meisjes, met manifestatie in de kindertijd."},"pt":{"name":"Protoporfiria eritropoiética ligada ao X","synonyms":["Protoporfiria eritropoiética ligada ao X dominante","Protoporfiria ligada ao X dominante","XLDPP"],"definition":"Doença rara do metabolismo do heme caracterizado por fotossensibilidade cutânea grave em crianças masculinas afetados e, às vezes, em crianças femininas manifestando-se na infância."},"pl":{"name":"Protoporfiria erytropoetyczna sprzężona z chromosomem X","synonyms":["Dominująca protoporfiria erytropoetyczna sprzężona z chromosomem X","Dominująca protoporfiria sprzężona z chromosomem X","XLDPP","XLP","XLPP"]},"cs":{"name":"X-vázaná erytropoetická protoporfyrie","synonyms":["X-vázaná dominantní erytropoetická protoporfyrie","X-vázaná dominantní protoporfyrie","XLDPP","XLP","XLPP"]},"uk":{"name":"Х-зчеплена еритропоетична протопорфірія","synonyms":["XLDPP","Х-зчеплена домінантна еритропоетична протопорфірія","Х-зчеплена домінантна протопорфірія","XLPP"],"definition":"A rare disorder of heme metabolism characterized by severe cutaneous photosensitivity in affected boys and sometimes in girls, manifesting in childhood."},"zh":{"name":"X连锁遗传性红细胞生成性原卟啉症","synonyms":["X连锁显性红细胞生成性原卟啉症"]},"tr":{"name":"X'e bağlı eritropoietik protoporfiri","synonyms":["XLP","XLPP","XLDPP","X-ilişkili baskın protoporfiri","X-ilişkili baskın eritropoietik protoporfiri"]}},"xrefs":[{"source":"OMIM","code":"300752","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E80.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C58.12","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2041499466"},{"source":"MONDO","code":"0010420","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567464","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2677889","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":659681,"name":"Erythropoietic porphyria","classifications":[150,156,187,188]}],"children":[],"genes":[{"symbol":"ALAS2","name":"5'-aminolevulinate synthase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"23409301[PMID]","hgnc":"397","ensembl":"ENSG00000158578","omim":"301300","loci":["Xp11.21"]}],"genes_via_subtypes":[],"inheritance":["X-linked dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":50.0,"area":"Worldwide","status":"Validated","source":"24131146[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24131146[PMID]"}],"phenotypes":null}