{"orpha":100924,"name":"Porphyria due to ALA dehydratase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ALAD porphyria","Porphyria due to ALAD deficiency","Porphyria due to delta-aminolevulinate dehydratase deficiency","Porphyria of Doss"],"definition":"A rare acute hepatic porphyria characterized by neurovisceral attacks without skin symptoms.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-100924/","orphanet_url":"https://www.orpha.net/en/disease/detail/100924","names":{"fr":{"name":"Porphyrie par déficit en ALA déshydratase","synonyms":["Porphyrie de Doss","Porphyrie par déficit en ALAD","Porphyrie par déficit en delta-aminolévulinate déshydratase"],"definition":"Porphyrie hépatique aiguë rare caractérisée par la survenue de crises neuro-viscérales sans signes cutanés."},"de":{"name":"Porphyrie durch ALA-Dehydratase-Mangel","synonyms":["ALAD-Porphyrie","Doss-Porphyrie","Porphyrie durch ALAD-Mangel","Porphyrie durch delta-Aminolävulinsäure-Dehydratase-Mangel"],"definition":"Eine Form der akuten hepatischen Porphyrie, die durch neuroviszerale Anfälle ohne Hautsymptome gekennzeichnet ist."},"es":{"name":"Porfiria por deficiencia de ALA-deshidratasa","synonyms":["ALAD","Porfiria ALAD","Porfiria de Doss","Porfiria por deficiencia de delta-aminolevulínico-deshidratasa"],"definition":"Es una porfiria hepática aguda poco frecuente caracterizada por ataques neuroviscerales sin síntomas cutáneos."},"it":{"name":"Porfiria da deficit di ALA deidratasi","synonyms":["Porfiria da ALAD","Porfiria da deficit di ALAD","Porfiria da deficit di delta-aminolevulinico deidratasi","Porfiria di Doss"]},"nl":{"name":"Porfyrie door deficiëntie van ALA-dehydratase","synonyms":["ALAD-porfyrie","Porfyrie door ALAD-deficiëntie","Porfyrie door deficiëntie van delta-aminolevulinaatdehydratase","Porfyrie door deficiëntie van delta-aminolevulinezuurdehydratase","Porfyrie van Doss"],"definition":"Een zeldzame acute hepatische porfyrie, gekenmerkt door neuroviscerale aanvallen zonder huidsymptomen."},"pt":{"name":"Porfiria por deficiência de ALA desidratase","synonyms":["Porfiria de Doss"],"definition":"Porfiria hepática aguda rara, caracterizada por crises neuroviscerais sem sintomas cutâneos."},"pl":{"name":"Porfiria z powodu niedoboru dehydratazy ALA","synonyms":["Porfiria ALAD","Porfiria Doss","Porfiria z powodu niedoboru ALAD","Porfiria z powodu niedoboru dehydratazy kwasu delta-aminolewulinowego"]},"cs":{"name":"Porfyrie způsobená deficitem ALA hydratázy","synonyms":["ALAD porfyrie","Dossova porfyrie","Porfyrie způsobená ALA deficitem","Porfyrie způsobená deficitem delta-aminolevulonát dehydratázy"]},"uk":{"name":"Порфірія внаслідок дефіциту ALA-дегідратази","synonyms":["Порфірія ALAD","Порфірія внаслідок дефіциту ALAD","Порфірія внаслідок дефіциту дельта-амінолевулінатдегідратази","Порфірія Досса"],"definition":"A rare acute hepatic porphyria characterized by neurovisceral attacks without skin symptoms."},"zh":{"name":"氨基乙酰丙酸脱水酶缺乏性卟啉症","synonyms":["δ-氨基乙酰丙酸脱水酶缺乏性卟啉症"],"definition":"缺乏或缺乏δ-氨基酮戊酸脱水酶(DALAD)的卟啉症是一种极为罕见的急性肝卟啉病(见该词条)，其特征是神经内脏发作而无皮肤表现。"},"tr":{"name":"ALA dehidratasyon eksikliğine bağlı porfiri","synonyms":["ALAD porfiri","Doss Porfiri","ALAD eksikliğine bağlı porfiri","Delta-aminolevulinat dehidrataz eksikliğine bağlı porfiri"]}},"xrefs":[{"source":"OMIM","code":"612740","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":"1158153414"},{"source":"MONDO","code":"0013000","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268328","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":"ALAD","name":"aminolevulinate dehydratase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"2063868[PMID]_16343966[PMID]","hgnc":"395","ensembl":"ENSG00000148218","omim":"125270","loci":["9q32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-05-17","source":"32809671[PMID]_30766957[PMID]","terms":[{"hpo":"HP:0012379","label":"Abnormal enzyme/coenzyme activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010472","label":"Abnormal circulating porphyrin concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030272","label":"Abnormal erythrocyte enzyme activity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012187","label":"Increased erythrocyte protoporphyrin concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0033010","label":"Increased fecal coproporphyrin 3","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012217","label":"Increased urinary porphobilinogen","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040322","label":"Purple urine","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003270","label":"Abdominal distention","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100852","label":"Abnormal fear/anxiety-related behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002086","label":"Abnormality of the respiratory system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000713","label":"Agitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006466","label":"Ankle flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000741","label":"Apathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000717","label":"Autism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001289","label":"Confusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031258","label":"Delirium","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:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002572","label":"Episodic vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007159","label":"Fluctuations in consciousness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004302","label":"Functional motor deficit","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000738","label":"Hallucinations","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002902","label":"Hyponatremia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003690","label":"Limb muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007178","label":"Motor polyneuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005547","label":"Myeloproliferative disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002018","label":"Nausea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001271","label":"Polyneuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000711","label":"Restlessness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000763","label":"Sensory neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005946","label":"Ventilator dependence with inability to wean","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011121","label":"Abnormal skin morphology","frequency":"Excluded (0%)","criteria":null}]}}