{"orpha":742,"name":"Prolidase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hyperimidodipeptiduria"],"definition":"Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-742/","orphanet_url":"https://www.orpha.net/en/disease/detail/742","names":{"fr":{"name":"Déficit en prolidase","synonyms":["Hyperimidodipeptidurie"],"definition":"Trouble héréditaire du métabolisme des peptides caractérisé par des lésions cutanées sévères, des infections récurrentes (principalement de la peau et des voies respiratoires), une dysmorphie faciale, des troubles cognitifs de degré variable et une splénomégalie."},"de":{"name":"Prolidase-Mangel","synonyms":["Hyperimidodipeptidurie"],"definition":"Der Prolidase-Mangel ist eine vererbte Störung des Peptidstoffwechsels, die durch schwere Hautläsionen, wiederkehrende Infektionen (vor allem der Haut und des Atmungssystems), dysmorphe Gesichtszüge, variable kognitive Beeinträchtigungen und Splenomegalie gekennzeichnet ist."},"es":{"name":"Deficiencia de prolidasa","definition":"La deficiencia de prolidasa es un trastorno hereditario del metabolismo de los péptidos caracterizado por lesiones cutáneas graves, infecciones recurrentes (que afectan principalmente a la piel y al sistema respiratorio), rasgos faciales dismórficos, deterioro cognitivo variable y esplenomegalia."},"it":{"name":"Deficit di prolidasi","synonyms":["Iperimidodipeptiduria"],"definition":"Il deficit di prolidasi è una malattia ereditaria del metabolismo dei peptidi, caratterizzata da gravi lesioni cutanee, infezioni ricorrenti (che interessano prevalentemente la cute e il sistema respiratorio), dismorfismi facciali, deficit cognitivo variabile e splenomegalia."},"nl":{"name":"Prolidasedeficiëntie","synonyms":["Hyperimidodipeptidurie"],"definition":"Prolidasedeficiëntie is een erfelijke stoornis van het peptidemetabolisme en wordt gekarakteriseerd door ernstige huidletsels, recurrente infecties (voornamelijk van de huid en het ademhalingsstelsel), dysmorfe gelaatskenmerken, variabele cognitieve beperkingen, en splenomegalie."},"pt":{"name":"Deficiência de prolidase","synonyms":["Hiperimidopeptidúria"],"definition":"A deficiência de prolidase é uma doença hereditária do metabolismo peptídico caracterizada por lesões cutâneas graves, infeções recorrentes (envolvendo principalmente a pele e o sistema respiratório), dismorfismo facial, défice cognitivo variável e esplenomegalia."},"pl":{"name":"Niedobór prolidazy","synonyms":["Hiperimidodipeptiduria"]},"cs":{"name":"Deficit prolidázy","synonyms":["Hyperimidodipeptidurie"]},"uk":{"name":"Дефіцит пролідази","synonyms":["Гіперімідодипептидурія"],"definition":"Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly."},"zh":{"name":"氨酰基脯氨酸二肽酶缺乏症","synonyms":["氨酰基脯氨酸二肽酶缺乏症"]},"tr":{"name":"Prolidaz eksikliği","synonyms":["Hiperimidodipeptidüri"]}},"xrefs":[{"source":"OMIM","code":"170100","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E72.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C50.F0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1416203271"},{"source":"MONDO","code":"0008221","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D056732","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268532","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7473","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79187,"name":"Disorder of peptide metabolism","classifications":[150,156]},{"orpha":568047,"name":"Disorder with multisystemic involvement and primary lymphedema","classifications":[147,156,187,198]},{"orpha":79387,"name":"Metabolic disease with skin involvement","classifications":[156,187]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"PEPD","name":"peptidase D","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"18340504[PMID]","hgnc":"8840","ensembl":"ENSG00000124299","omim":"613230","loci":["19q13.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":90.0,"area":"Worldwide","status":"Validated","source":"26110198[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"Dr Heng Wang[EXPERT]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"<1 / 1 000 000","value":0.08,"area":"Canada","status":"Validated","source":"ISBN:978-2-550-55181-2[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003272","label":"Abnormality of the hip bone","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002715","label":"Abnormality of the immune system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000370","label":"Abnormality of the middle ear","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008065","label":"Aplasia/Hypoplasia of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007473","label":"Crusting erythematous dermatitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000992","label":"Cutaneous photosensitivity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010783","label":"Erythema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000962","label":"Hyperkeratosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000982","label":"Palmoplantar keratoderma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200034","label":"Papule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000963","label":"Thin skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001231","label":"Abnormal fingernail morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001166","label":"Arachnodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007598","label":"Bilateral single transverse palmar creases","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000457","label":"Depressed nasal ridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002230","label":"Generalized hirsutism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001007","label":"Hirsutism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000294","label":"Low anterior hairline","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002211","label":"White forelock","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010669","label":"Hypoplasia of the zygomatic bone","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012786","label":"Recurrent cystitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004349","label":"Reduced bone mineral density","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Occasional (29-5%)","criteria":null}]}}