{"orpha":71528,"name":"Obesity due to prohormone convertase I deficiency","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["PCI deficiency"],"definition":"A rare genetic endocrine disease characterized by early onset of severe intractable diarrhea and intestinal malabsorption, followed by obesity and hormonal deficiencies due to insufficient activation of several prohormones, resulting in hypocortisolism, hypothyroidism, diabetes insipidus, hypogonadism, growth deficiency, and diabetes mellitus. Extent and age of onset of hormone deficiencies are variable between patients.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-71528/","orphanet_url":"https://www.orpha.net/en/disease/detail/71528","names":{"fr":{"name":"Obésité par déficit en prohormone convertase I","definition":"Maladie endocrinienne génétique rare caractérisée par l'apparition précoce d'une diarrhée intraitable sévère et d'une malabsorption intestinale, suivie d'une obésité et de carences hormonales dues à une activation insuffisante de plusieurs prohormones, entraînant un hypocortisolisme, une hypothyroïdie, un diabète insipide, un hypogonadisme, un retard de croissance global et un diabète sucré. L'âge d'apparition de la maladie ainsi que et la sévérité des carences hormonales sont variables selon les patients."},"de":{"name":"Adipositas durch Prohormon-Konvertase I-Mangel","synonyms":["PCI-Mangel"],"definition":"Eine seltene genetisch bedingte endokrine Erkrankung, die sich durch früh einsetzende schwere, hartnäckige Diarrhöe und intestinale Malabsorption auszeichnet, gefolgt von Adipositas und Hormonmangel aufgrund einer unzureichenden Aktivierung verschiedener Prohormone, was zu Hypokortisolismus, Hypothyreose, Diabetes insipidus, Hypogonadismus, Wachstumsstörungen und Diabetes mellitus führt. Ausmaß und Alter des Auftretens von Hormonmängeln sind von Patient zu Patient unterschiedlich."},"es":{"name":"Obesidad por deficiencia de prohormona convertasa-I","definition":"Es una enfermedad endocrina genética poco frecuente caracterizada por el inicio precoz de diarrea intensa intratable y malabsorción intestinal, seguidas de obesidad y deficiencias hormonales debido a la activación insuficiente de varias prohormonas, lo que resulta en hipocortisolismo, hipotiroidismo, diabetes insípida, hipogonadismo, deficiencia del crecimiento y diabetes mellitus. El grado de afectación y la edad de aparición de las deficiencias hormonales varían entre pacientes."},"it":{"name":"Obesità da deficit di pro-ormone convertasi 1","synonyms":["Deficit di PCI"],"definition":"Si tratta di un'endocrinopatia genetica rara, caratterizzata da diarrea grave non trattabile ad esordio precoce e da malassorbimento intestinale, seguiti dall'obesità e dai deficit ormonali secondari all'insufficiente attivazione di diversi proormoni, che causa ipocortisolismo, ipotiroidismo, diabete insipido, ipogonadismo, deficit della crescita e diabete mellito. L'entità e l'età d'esordio dei deficit ormonali variano tra i pazienti."},"nl":{"name":"Obesitas door deficiëntie van prohormoonconvertase I","synonyms":["PCI-deficiëntie"],"definition":"Een zeldzame, genetische endocriene aandoening, gekarakteriseerd door vroege aanvang van ernstige refractaire diarree en intestinale malabsorptie, gevolgd door obesitas en hormoondeficiëntie door ontoereikende activatie van verschillende prohormonen, wat resulteert in hypocortisolisme, hypothyreoïdie, diabetes insipidus, hypogonadisme, groeideficiëntie, en diabetes mellitus. De mate en aanvangsleeftijd van hormoondeficiëntie variëren tussen patiënten."},"pt":{"name":"Obesidade por deficiência de pro-hormona convertase-I","synonyms":["Deficiência de PCI"]},"pl":{"name":"Otyłość spowodowana niedoborem konwertazy I prohormonu","synonyms":["Niedobór PCI"]},"cs":{"name":"Obezita způsobená deficitem prohormon konvertázy I","synonyms":["Deficit PCI"]},"uk":{"name":"Ожиріння через дефіцит прогормону конвертази I","synonyms":["Дефіцит PCI"],"definition":"A rare genetic endocrine disease characterized by early onset of severe intractable diarrhea and intestinal malabsorption, followed by obesity and hormonal deficiencies due to insufficient activation of several prohormones, resulting in hypocortisolism, hypothyroidism, diabetes insipidus, hypogonadism, growth deficiency, and diabetes mellitus. Extent and age of onset of hormone deficiencies are variable between patients."},"zh":{"name":"激酶原转化酶1缺乏所致肥胖症","synonyms":["PCI缺乏"]},"tr":{"name":"Prohormon konvertaz I eksikliğine bağlı obezite","synonyms":["PCI eksikliği"]}},"xrefs":[{"source":"OMIM","code":"600955","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E66.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5B81.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"331161581"},{"source":"MONDO","code":"0010961","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4302878","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":181390,"name":"Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature","classifications":[156,193,201,205]},{"orpha":179490,"name":"Obesity due to congenital leptin resistance","classifications":[156,193]}],"children":[],"genes":[{"symbol":"PCSK1","name":"proprotein convertase subtilisin/kexin type 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"9207799[PMID]_17595246[PMID]","hgnc":"8743","ensembl":"ENSG00000175426","omim":"162150","loci":["5q15"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":16.0,"area":"Worldwide","status":"Validated","source":"23562752[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-03-01","source":"27468060[PMID]_16936203[PMID]_14557433[PMID]_9620771[PMID]_9771698[PMID]_15703762[PMID]","terms":[{"hpo":"HP:0009126","label":"Increased adipose tissue","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0002591","label":"Polyphagia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011734","label":"Central adrenal insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008915","label":"Childhood-onset truncal obesity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001396","label":"Cholestasis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001010","label":"Hypopigmentation of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002297","label":"Red hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000956","label":"Acanthosis nigricans","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000824","label":"Decreased response to growth hormone stimulation test","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008213","label":"Gonadotropin deficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000842","label":"Hyperinsulinemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002173","label":"Hypoglycemic seizures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008245","label":"Pituitary hypothyroidism","frequency":"Occasional (29-5%)","criteria":null}]}}