{"orpha":2157,"name":"Histidinemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["HAL deficiency","HIS deficiency","Histidase deficiency","Histidine ammonia-lyase deficiency","Histidinuria","Hyperhistidinemia"],"definition":"Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2157/","orphanet_url":"https://www.orpha.net/en/disease/detail/2157","names":{"fr":{"name":"Histidinémie","synonyms":["Déficit en HAL","Déficit en HIS","Déficit en histidase","Déficit en histidine-ammoniac-lyase","Histidinurie","Hyperhistidinémie"],"definition":"Trouble rare du métabolisme caractérisé par des taux élevés d'histidine dans le sang, les urines et le liquide cérébrospinal, généralement sans répercussions cliniques."},"de":{"name":"Histidinämie","synonyms":["HAL-Mangel","HIS-Mangel","Histidase-Mangel","Histidin-Ammoniak-Lyase-Mangel","Histidinurie","Hyperhistidinämie"],"definition":"Die Histidinämie ist eine seltene Stoffwechselstörung, die durch erhöhte Histidinwerte in Blut, Urin und Liquor gekennzeichnet ist und im Allgemeinen keine klinischen Auswirkungen hat."},"es":{"name":"Histidinemia","synonyms":["Deficiencia HAL","Deficiencia HIS","Deficiencia de histidasa","Deficiencia de histidina-amoníaco-liasa","Hiperhistidinemia","Histidinuria"],"definition":"Es un trastorno metabólico poco frecuente caracterizado por niveles elevados de histidina en sangre, orina y líquido cefalorraquídeo, por lo general, sin repercusión clínica."},"it":{"name":"Istidinemia","synonyms":["Deficit di HAL","Deficit di HIS","Deficit di istidasi","Deficit di istidina ammonio-liasi","Iperistidinemia","Istidinuria"],"definition":"L'istidinemia è una malattia metabolica rara, caratterizzata da livelli elevati di istidina nel sangue, nelle urine e nel liquido cerebrospinale, di solito in assenza di conseguenze cliniche."},"nl":{"name":"Histidinemie","synonyms":["Deficiëntie van histidase","Deficiëntie van histidine-ammoniak-lyase","HAL-deficiëntie","HIS-deficiëntie","Histidinurie","Hyperhistidinemie"],"definition":"Histidinemie is een zeldzame metabole stoornis die gekarakteriseerd wordt door verhoogde histidinegehaltes in het bloed, de urine, en het hersen- en ruggenmergvocht, doorgaans zonder klinische gevolgen."},"pt":{"name":"Histidinemia","synonyms":["Deficiência de HAL","Deficiência de HIS","Deficiência de histidase","Deficiência de histidina amonia-liase","Hiperhistidinemia","Histidinúria"],"definition":"A histidinemia é uma doença metabólica rara caracterizada por níveis elevados de histidina no sangue, urina e líquido cefalorraquidiano, geralmente sem repercussões clínicas."},"pl":{"name":"Histydynemia","synonyms":["Hiperhistydynemia","Histydynuria","Niedobór amoniakoliazy histydyny","Niedobór HAL","Niedobór HIS","Niedobór histydazy"]},"cs":{"name":"Histidinémie","synonyms":["HAL deficit","HIS deficit","Deficit histidázy","Deficit histidin amonium lyázy","Histidinurie","Hyperhistidinemie"]},"uk":{"name":"Гістидинемія","synonyms":["Дефіцит HAL","Дефіцит HIS","Дефіцит гістидази","Дефіцит гістидин-аміакліази","Гістидинурія","Гіпергістидинемія"],"definition":"Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions."},"zh":{"name":"组氨酸血症","synonyms":["组氨酸氨基裂合酶缺乏"]},"tr":{"name":"Histidinemia","synonyms":["Histidinüri","HAL eksikliği","HIS eksikliği","Hiperhistidinemi","Histidaz eksikliği","Histidin amonyak liyaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"235800","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E70.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C50.20","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"261052955"},{"source":"MONDO","code":"0009345","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538320","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0220992","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6661","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79181,"name":"Disorder of histidine metabolism","classifications":[150,156]}],"children":[],"genes":[{"symbol":"HAL","name":"histidine ammonia-lyase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15806399[PMID]","hgnc":"4806","ensembl":"ENSG00000084110","omim":"609457","loci":["12q23.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.7,"area":"Sweden","status":"Validated","source":"8463510[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":8.3,"area":"United States","status":"Validated","source":"[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":11.9,"area":"Japan","status":"Validated","source":"6468444[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-02-13","source":"28262611[PMID]_8669938[PMID]","terms":[{"hpo":"HP:0002927","label":"Histidinuria","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0010906","label":"Hyperhistidinemia","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011343","label":"Moderate global developmental delay","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Very rare (<4-1%)","criteria":null}]}}