{"orpha":91,"name":"Aromatase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital estrogen deficiency"],"definition":"A rare disorder that disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-91/","orphanet_url":"https://www.orpha.net/en/disease/detail/91","names":{"fr":{"name":"Déficit en aromatase","synonyms":["Déficit congénital en oestrogènes"],"definition":"Le déficit en aromatase perturbe la synthèse d'oestradiol, ce qui conduit à un hirsutisme chez les mères enceintes d'un enfant affecté, un pseudo-hermaphrodisme et une virilisation chez les femmes ; ainsi qu'à une grande taille, une ostéoporose et une obésité chez les hommes."},"de":{"name":"Aromatase-Mangel","synonyms":["Östrogen-Mangel, kongenitaler"],"definition":"Eine seltene Störung der Östradiolsynthese, die bei Müttern während der Schwangerschaft eines betroffenen Kindes zu Hirsutismus, bei Frauen zu Pseudohermaphroditismus und Virilisierung, bei Männern zu Hochwuchs, Osteoporose und Adipositas führt."},"es":{"name":"Deficiencia de aromatasa","synonyms":["Deficiencia de aromatasa placentaria y fetal"],"definition":"Es un trastorno poco frecuente en el que la síntesis de estradiol se ve interrumpida, lo que provoca hirsutismo en las madres durante la gestación de un niño afecto; pseudohermafroditismo y virilización en mujeres; y talla alta, osteoporosis y obesidad en varones."},"it":{"name":"Deficit di aromatasi","synonyms":["Deficit congenito di estrogeni"]},"nl":{"name":"Aromatasedeficiëntie","synonyms":["Congenitale oestrogeendeficiëntie"],"definition":"Een zeldzame aandoening die de synthese van oestradiol verstoort, wat leidt tot hirsutisme bij moeders tijdens de zwangerschap van een getroffen kind, pseudohermafroditisme en virilisatie bij vrouwen, en grote gestalte, osteoporose en obesitas bij mannen."},"pt":{"name":"Deficiência de aromatase","definition":"Patologia rara que interrompe a síntese de estradiol, resultando em hirsutismo nas mães durante a gestação de uma criança afetada; pseudo-hermafroditismo e virilização na mulher; e elevada estatura, osteoporose e obesidade nos homens."},"pl":{"name":"Niedobór aromatazy","synonyms":["Wrodzony Niedobór estrogenów"]},"cs":{"name":"Deficit aromatázy","synonyms":["Vrozený deficit estrogenu"]},"uk":{"name":"Дефіцит ароматази","synonyms":["Вроджений дефіцит естрогену"],"definition":"A rare disorder that disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men."},"zh":{"name":"芳香化酶缺乏症","synonyms":["先天性雌激素缺乏症"]},"tr":{"name":"Aromataz eksikliği","synonyms":["Doğumsal östrojen eksikliği"]}},"xrefs":[{"source":"OMIM","code":"613546","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E25.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A9Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"260189446"},{"source":"MONDO","code":"0013301","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537436","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1960539","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"365","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":325061,"name":"46,XX difference of sex development induced by fetoplacental androgens excess","classifications":[147,156,185,193,205]},{"orpha":163637,"name":"Rare disorder related with pregnancy, childbirth and puerperium","classifications":[205]},{"orpha":399831,"name":"Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder","classifications":[201]},{"orpha":400011,"name":"Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin","classifications":[156]},{"orpha":485382,"name":"Rare genetic premature ovarian failure","classifications":[156]},{"orpha":399572,"name":"Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder","classifications":[201]},{"orpha":399983,"name":"Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin","classifications":[156]},{"orpha":95710,"name":"Rare non-acquired premature ovarian failure","classifications":[193,205]}],"children":[],"genes":[{"symbol":"CYP19A1","name":"cytochrome P450 family 19 subfamily A member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"21521281[PMID]","hgnc":"2594","ensembl":"ENSG00000137869","omim":"107910","loci":["15q21.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":38.0,"area":"Worldwide","status":"Validated","source":"27256151[PMID]_27693882[PMID]_29324451[PMID]_29553041[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27256151[PMID]_27693882[PMID]_29324451[PMID]_29553041[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-11-28","source":"1825497[PMID]_162557[PMID]_8530621[PMID]_1371509[PMID]_14715828[PMID]_130074[PMID]_1825497[PMID]","terms":[{"hpo":"HP:0000061","label":"Ambiguous genitalia, female","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002653","label":"Bone pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002663","label":"Delayed epiphyseal ossification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008675","label":"Enlarged polycystic ovaries","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003782","label":"Eunuchoid habitus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008222","label":"Female infertility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010458","label":"Female pseudohermaphroditism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000815","label":"Hypergonadotropic hypogonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003077","label":"Hyperlipidemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003251","label":"Male infertility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008072","label":"Maternal virilization in pregnancy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000786","label":"Primary amenorrhea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000098","label":"Tall stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000956","label":"Acanthosis nigricans","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002230","label":"Generalized hirsutism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001397","label":"Hepatic steatosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000855","label":"Insulin resistance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002050","label":"Macroorchidism, postpubertal","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005978","label":"Type II diabetes mellitus","frequency":"Frequent (79-30%)","criteria":null}]}}