{"orpha":79276,"name":"Acute intermittent porphyria","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A form of acute hepatic porphyria characterized by the occurrence of neurovisceral attacks without cutaneous symptoms.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79276/","orphanet_url":"https://www.orpha.net/en/disease/detail/79276","names":{"fr":{"name":"Porphyrie aiguë intermittente","definition":"Une forme de porphyrie hépatique aiguë caractérisée par la survenue de crises neuro-viscérales sans signes cutanés."},"de":{"name":"Porphyrie, akute intermittierende","definition":"Eine Unterform der akuten hepatischen Porphyrie, die durch das Auftreten neuroviszeraler Anfälle ohne Hautsymptome gekennzeichnet ist."},"es":{"name":"Porfiria aguda intermitente","definition":"Es una forma de porfiria hepática aguda caracterizada por la aparición de ataques neuroviscerales sin manifestaciones cutáneas."},"it":{"name":"Porfiria intermittente acuta"},"nl":{"name":"Acute intermitterende porfyrie","definition":"Een vorm van acute hepatische porfyrie, gekenmerkt door optreden van neuro-viscerale aanvallen zonder cutane symptomen."},"pt":{"name":"Porfiria aguda intermitente","definition":"Uma forma de porfiria hepática aguda caracterizada pela ocorrência de episódios neuroviscerais sem sintomas cutâneos."},"pl":{"name":"Ostra porfiria przerywana"},"cs":{"name":"Akutní intermitentní porfyrie"},"uk":{"name":"Гостра інтермітуюча порфірія","definition":"A form of acute hepatic porphyria characterized by the occurrence of neurovisceral attacks without cutaneous symptoms."},"zh":{"name":"急性间歇型卟啉病"},"tr":{"name":"Akut intermittent porfiri"}},"xrefs":[{"source":"OMIM","code":"176000","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":"1565229118"},{"source":"MONDO","code":"0008294","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D017118","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0162565","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5732","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":"HMBS","name":"hydroxymethylbilane synthase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301372[PMID]","hgnc":"4982","ensembl":"ENSG00000256269","omim":"609806","loci":["11q23.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.013,"area":"Europe","status":"Validated","source":"23114748[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.54,"area":"Europe","status":"Validated","source":"23114748[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.012,"area":"France","status":"Validated","source":"23114748[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.55,"area":"France","status":"Validated","source":"23114748[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.011,"area":"Italy","status":"Validated","source":"23114748[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.5,"area":"Italy","status":"Validated","source":"23114748[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.013,"area":"Finland","status":"Validated","source":"23114748[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.59,"area":"Finland","status":"Validated","source":"23114748[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.018,"area":"Netherlands","status":"Validated","source":"23114748[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.81,"area":"Netherlands","status":"Validated","source":"23114748[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.014,"area":"Norway","status":"Validated","source":"23114748[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.63,"area":"Norway","status":"Validated","source":"23114748[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.016,"area":"Poland","status":"Validated","source":"23114748[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.72,"area":"Poland","status":"Validated","source":"23114748[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.014,"area":"Spain","status":"Validated","source":"23114748[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.63,"area":"Spain","status":"Validated","source":"23114748[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.051,"area":"Sweden","status":"Validated","source":"23114748[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":10.0,"area":"Sweden","status":"Validated","source":"12372055[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.022,"area":"Switzerland","status":"Validated","source":"23114748[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.99,"area":"Switzerland","status":"Validated","source":"23114748[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.016,"area":"United Kingdom","status":"Validated","source":"23114748[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.72,"area":"United Kingdom","status":"Validated","source":"23114748[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-06-15","source":"20301372[PMID]_29383964[PMID]","terms":[{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012379","label":"Abnormal enzyme/coenzyme activity","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:0012217","label":"Increased urinary porphobilinogen","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010473","label":"Porphyrinuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003418","label":"Back pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006824","label":"Cranial 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(29-5%)","criteria":null},{"hpo":"HP:0410263","label":"Brain imaging abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001289","label":"Confusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040319","label":"Dark urine","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002460","label":"Distal muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001262","label":"Excessive daytime somnolence","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000738","label":"Hallucinations","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:0002595","label":"Ileus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100785","label":"Insomnia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007002","label":"Motor axonal neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007178","label":"Motor polyneuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011999","label":"Paranoia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008994","label":"Proximal muscle weakness in lower limbs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008997","label":"Proximal muscle weakness in upper limbs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007024","label":"Pseudobulbar paralysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002203","label":"Respiratory paralysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000711","label":"Restlessness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003474","label":"Somatic sensory dysfunction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004347","label":"Weakness of muscles of respiration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001259","label":"Coma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100518","label":"Dysuria","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000020","label":"Urinary incontinence","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000016","label":"Urinary retention","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011121","label":"Abnormal skin morphology","frequency":"Excluded (0%)","criteria":null}]}}