{"orpha":2116,"name":"Hartnup disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Aminoaciduria, Hartnup type","Hartnup disorder"],"definition":"A rare metabolic disorder belonging to the neutral aminoacidurias, mainly characterized by skin photosensitivity, ocular and neuropsychiatric features, due to abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2116/","orphanet_url":"https://www.orpha.net/en/disease/detail/2116","names":{"fr":{"name":"Maladie de Hartnup","synonyms":["Aminoacidurie type Hartnup"],"definition":"Trouble rare du métabolisme appartenant au groupe des aminoaciduries primaires, principalement caractérisé par une photosensibilité cutanée, des atteintes oculaires et neuropsychiatriques liées au transport anormal des acides aminés neutres (tryptophane, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phénylalanine, sérine, thréonine, tyrosine et valine) dans l'intestin et les reins."},"de":{"name":"Hartnup-Syndrom","synonyms":["Hartnup-Krankheit"],"definition":"Eine seltene Stoffwechselkrankheit aus der Gruppe der neutralen Aminoazidurien, die hauptsächlich durch Lichtempfindlichkeit der Haut, okuläre und neuropsychiatrische Merkmale gekennzeichnet ist und auf einem abnormalen renalen und gastrointestinalen Transport von neutralen Aminosäuren (Tryptophan, Alanin, Asparagin, Glutamin, Histidin, Isoleucin, Leucin, Phenylalanin, Serin, Threonin, Tyrosin und Valin) beruht."},"es":{"name":"Síndrome de Hartnup","synonyms":["Aminoaciduria tipo Hartnup","Trastorno de Hartnup"],"definition":"Es un trastorno metabólico poco frecuente perteneciente a las aminoacidurias de aminoácidos neutros. Está caracterizado fundamentalmente por fotosensibilidad cutánea y hallazgos oculares y neuropsiquiátricos, debido a un transporte renal y gastrointestinal anómalo de aminoácidos neutros (triptófano, alanina, asparagina, glutamina, histidina, isoleucina, leucina, fenilalanina, serina, treonina, tirosina y valina)."},"it":{"name":"Sindrome di Hartnup","synonyms":["Aminoaciduria, tipo Hartnup","Malattia di Hartnup"],"definition":"Si tratta di una malattia metabolica rara, che rientra nelle aminoacidurie neutre, ed è caratterizzata prevalentemente da fotosensibilità cutanea e segni oculari e neuropsichiatrici secondari ad alcune anomalie del trasporto renale e gastrointestinale degli aminoacidi neutri (triptofano, alanina, asparagina, glutammina, istidina, isoleucina, leucina, fenilalanina, serina, treonina, tirosina e valina)."},"nl":{"name":"Ziekte van Hartnup","synonyms":["Aminoacidurie, Hartnup-type","Hartnupstoornis"],"definition":"Een zeldzame stofwisselingsziekte die behoort tot de neutrale aminoacidurieën, en die voornamelijk gekarakteriseerd wordt door lichtgevoeligheid van de huid, en oculaire en neuropsychiatrische kenmerken, als gevolg van abnormaal renaal en gastro-intestinaal transport van neutrale aminozuren (tryptofaan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, fenylalanine, serine, threonine, tyrosine en valine)."},"pt":{"name":"Síndrome Hartnup"},"pl":{"name":"Zespół Hartnupów","synonyms":["Aminoaciduria typu Hartnupów","Choroba Hartnupów"]},"cs":{"name":"Hartnupova nemoc","synonyms":["Hartnupova choroba","Aminoacidurie, Hartnupův typ"]},"uk":{"name":"Хвороба Хартнупа","synonyms":["Аміноацидурія, тип Хартнупа","Хвороба Хартнупа"],"definition":"A rare metabolic disorder belonging to the neutral aminoacidurias, mainly characterized by skin photosensitivity, ocular and neuropsychiatric features, due to abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine)."},"zh":{"name":"Hartnup病","synonyms":["氨基酸尿症，Hartnup型"]},"tr":{"name":"Hartnup hastalığı","synonyms":["Hartnup bozukluğu","Aminoasidüri, Hartnup tipi"]}},"xrefs":[{"source":"OMIM","code":"234500","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E72.0","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"5C60.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"871897464"},{"source":"MONDO","code":"0009324","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D006250","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0018609","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6569","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10019165","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":308451,"name":"Disorder of neutral amino acid transport","classifications":[150,156]},{"orpha":183490,"name":"Genetic photodermatosis","classifications":[156]},{"orpha":93593,"name":"Nephropathy secondary to a storage or other metabolic disease","classifications":[156,188]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":79390,"name":"Rare photodermatosis","classifications":[187]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"CLTRN","name":"collectrin, amino acid transport regulator","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31520464[PMID]","hgnc":"29437","ensembl":"ENSG00000147003","omim":"300631","loci":["Xp22.2"]},{"symbol":"SLC6A19","name":"solute carrier family 6 member 19","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15286787[PMID]_15286788[PMID]","hgnc":"27960","ensembl":"ENSG00000174358","omim":"608893","loci":["5p15.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.85,"area":"United States","status":"Validated","source":"ISBN:79130356[OTHER]_17555458[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.9,"area":"Specific population","status":"Validated","source":"ISBN:79130356[OTHER]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":4.0,"area":"United Kingdom","status":"Validated","source":"909480[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":4.2,"area":"Worldwide","status":"Validated","source":"ISBN:79130356[OTHER]_[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.3,"area":"Australia","status":"Validated","source":"ISBN:79130356[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-05-28","source":"32644502[PMID]","terms":[{"hpo":"HP:0012086","label":"Abnormal urinary color","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000992","label":"Cutaneous photosensitivity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000712","label":"Emotional lability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000738","label":"Hallucinations","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002076","label":"Migraine","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008353","label":"Neutral hyperaminoaciduria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000504","label":"Abnormality of vision","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:6000130","label":"Elevated urinary indican level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002024","label":"Malabsorption","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000988","label":"Skin rash","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000230","label":"Gingivitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000206","label":"Glossitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001053","label":"Hypopigmented skin patches","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002383","label":"Infectious encephalitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007400","label":"Irregular hyperpigmentation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000709","label":"Psychosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null}]}}