{"orpha":79273,"name":"Hereditary coproporphyria","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare acute hepatic porphyria characterized by neurovisceral attacks and, more rarely, skin lesions.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79273/","orphanet_url":"https://www.orpha.net/en/disease/detail/79273","names":{"fr":{"name":"Coproporphyrie héréditaire","definition":"Porphyrie hépatique aiguë rare caractérisée par la survenue de crises neuro-viscérales et, plus rarement, par la présence de lésions cutanées."},"de":{"name":"Koproporphyrie, hereditäre","definition":"Eine Form der akuten hepatischen Porphyrie, die durch neuroviszerale Anfälle und, seltener, durch Hautläsionen gekennzeichnet ist."},"es":{"name":"Coproporfiria hereditaria","definition":"Es una forma poco frecuente de porfiria hepática aguda caracterizada por ataques neuroviscerales y, más raramente, por lesiones cutáneas."},"it":{"name":"Coproporfiria ereditaria"},"nl":{"name":"Erfelijke coproporfyrie","definition":"Een zeldzame acute hepatische porfyrie, gekenmerkt door neuroviscerale aanvallen, en in zeldzamere gevallen huidlaesies."},"pt":{"name":"Coproporfiria hereditária","definition":"Porfiria hepática aguda rara, caracterizada por ataques neuroviscerais e, mais raramente, lesões cutâneas."},"pl":{"name":"Koproporfiria dziedziczna"},"cs":{"name":"Hereditární koproporfyrie"},"uk":{"name":"Спадкова копропорфірія","definition":"A rare acute hepatic porphyria characterized by neurovisceral attacks and, more rarely, skin lesions."},"zh":{"name":"遗传性粪卟啉症"},"tr":{"name":"Kalıtsal koproporfiri"}},"xrefs":[{"source":"OMIM","code":"121300","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E80.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C58.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1365918274"},{"source":"MONDO","code":"0007369","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D046349","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0162531","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6619","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10019866","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":95157,"name":"Acute hepatic porphyria","classifications":[150,156,181,183,187,188,233]}],"children":[],"genes":[{"symbol":"CPOX","name":"coproporphyrinogen oxidase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23236641[PMID]","hgnc":"2321","ensembl":"ENSG00000080819","omim":"612732","loci":["3q11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-06-15","source":"31085196[PMID]_23236641[PMID]_31085196[PMID]","terms":[{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010472","label":"Abnormal circulating porphyrin concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003163","label":"Elevated urinary delta-aminolevulinic acid","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011121","label":"Abnormal skin morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000987","label":"Atypical scarring of skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040319","label":"Dark urine","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002460","label":"Distal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002572","label":"Episodic vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012217","label":"Increased urinary porphobilinogen","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009763","label":"Limb pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002018","label":"Nausea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010473","label":"Porphyrinuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008994","label":"Proximal muscle weakness in lower limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008997","label":"Proximal muscle weakness in upper limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003418","label":"Back pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000992","label":"Cutaneous photosensitivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005325","label":"Extension of hair growth on temples to lateral eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009937","label":"Facial hirsutism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001030","label":"Fragile skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001402","label":"Hepatocellular carcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002902","label":"Hyponatremia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032936","label":"Intrusion symptom","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008528","label":"Long hairs growing from helix of pinna","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007178","label":"Motor polyneuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000112","label":"Nephropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000709","label":"Psychosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012850","label":"Small intestinal dysmotility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001649","label":"Tachycardia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Excluded (0%)","criteria":null}]}}