{"orpha":786,"name":"Generalized glucocorticoid resistance syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, adrenogenital syndrome characterized by generalized, partial tissue insensitivity to glucocorticoids leading to variable phenotype, including asymptomatic individuals with only biochemical alterations or patients with ambiguous genitalia at birth in females, hypertension, acne, hirsutism, precocious puberty, male-pattern hair loss, anxiety and depression in both sexes, menstrual irregularities in women, and oligospermia in men.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-786/","orphanet_url":"https://www.orpha.net/en/disease/detail/786","names":{"fr":{"name":"Syndrome de résistance généralisée aux glucocorticoïdes","definition":"Syndrome adréno-génital rare caractérisé par une insensibilité tissulaire partielle généralisée aux glucocorticoïdes, conduisant à un phénotype variable, incluant des individus asymptomatiques présentant seulement des altérations biochimiques, ou des patients présentant un appareil génital ambigu à la naissance pour les individus féminins, une hypertension, de l'acné, un hirsutisme, une puberté précoce, une calvitie masculine, de l'anxiété et une dépression chez les hommes et les femmes, des troubles menstruels chez les femmes et une oligospermie chez les hommes."},"de":{"name":"Glukokortikoid-Resistenz, generalisierte","definition":"Ein seltenes adrenogenitales Syndrom, das durch eine generalisierte, partielle Gewebsunempfindlichkeit gegenüber Glukokortikoiden gekennzeichnet ist und mit variablen Phänotypen einhergeht. Das klinische Spektrum umfasst asymptomatische Personen mit lediglich biochemischen Veränderungen, Patienten mit uneindeutigen Genitalien bei der Geburt, Bluthochdruck, Akne, Hirsutismus, vorzeitige Pubertät, Haarausfall bei Männern, Angstzuständen und Depressionen bei beiden Geschlechtern, Menstruationsunregelmäßigkeiten bei Frauen und Oligospermie bei Männern."},"es":{"name":"Síndrome de resistencia generalizada a glucocorticoides","definition":"Es un síndrome adrenogenital poco frecuente caracterizado por resistencia tisular parcial generalizada a los glucocorticoides, resultando en un fenotipo variable que incluye individuos asintomáticos que presentan únicamente alteraciones bioquímicas o pacientes con genitales ambiguos al nacimiento en las mujeres, hipertensión, acné, hirsutismo, pubertad precoz, alopecia de patrón masculino, ansiedad y depresión en ambos sexos, irregularidades menstruales en mujeres y oligospermia en varones."},"it":{"name":"Sindrome da resistenza generalizzata ai glucocorticoidi","definition":"Si tratta di una sindrome adreno-genitale rara, caratterizzata da un'insensibilità parziale generalizzata dei tessuti ai glucocorticoidi, che esita in un fenotipo variabile, che comprende i soggetti asintomatici (che presentano solo alterazioni biochimiche) e i pazienti di sesso femminile con genitali ambigui alla nascita, ipertensione, acne, irsutismo, pubertà precoce, perdita dei capelli con aspetto maschile, ansia e depressione in entrambi i sessi, irregolarità del ciclo mestruale nelle femmine, e oligospermia nei maschi."},"nl":{"name":"Gegeneraliseerde glucocorticoïdresistentie-syndroom","definition":"Een zeldzaam adrenogenitaal syndroom, gekarakteriseerd door gegeneraliseerde, partiële ongevoeligheid van weefsels voor glucocorticoïden, wat leidt tot een variabel fenotype met onder meer asymptomatische individuen met louter biochemische veranderingen of patiënten met ambigue geslachtsorganen bij de geboorte bij vrouwen, hypertensie, acne, hirsutisme, vroegtijdige puberteit, haarverlies volgens mannelijk patroon, angst en depressie bij beide geslachten, menstruele onregelmatigheden bij vrouwen, en oligospermie bij mannen."},"pt":{"name":"Síndrome de resistência a glucocorticóides generalizada","definition":"Uma síndrome adrenogenital rara caracterizada por insensibilidade tecidular generalizada e parcial aos glicocorticóides, levando a um fenótipo variável, incluindo indivíduos assintomáticos com apenas alterações bioquímicas ou doentes com genitais ambíguos ao nascimento nos indivíduos femininos, hipertensão, acne, hirsutismo, puberdade precoce, alopécia androgenética (calvície de padrão masculino), ansiedade e depressão em ambos os sexos, irregularidades menstruais em indivíduos femininos e oligospermia nos indivíduos masculinos."},"pl":{"name":"Niewrażliwość na glikokortykosteroidy"},"cs":{"name":"Rezistence ke glukokortikoidům"},"uk":{"name":"Синдром генералізованої глюкокортикоїдної резистентності","definition":"A rare, adrenogenital syndrome characterized by generalized, partial tissue insensitivity to glucocorticoids leading to variable phenotype, including asymptomatic individuals with only biochemical alterations or patients with ambiguous genitalia at birth in females, hypertension, acne, hirsutism, precocious puberty, male-pattern hair loss, anxiety and depression in both sexes, menstrual irregularities in women, and oligospermia in men."},"zh":{"name":"全身性糖皮质激素抵抗综合征"},"tr":{"name":"Jeneralize glukokortikoid direnç sendromu"}},"xrefs":[{"source":"OMIM","code":"615962","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E25.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A71.00","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"125216923"},{"source":"UMLS","code":"C5231034","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2499","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":90776,"name":"46,XX difference of sex development induced by fetal androgens excess","classifications":[147,156,185,193,205]},{"orpha":181412,"name":"Adrenogenital syndrome","classifications":[156,193]}],"children":[],"genes":[{"symbol":"NR3C1","name":"nuclear receptor subfamily 3 group C member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23076843[PMID]_19933394[PMID]","hgnc":"7978","ensembl":"ENSG00000113580","omim":"138040","loci":["5q31.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"23392096[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-09-05","source":"6282933[PMID]_3771797[PMID]_24483153[PMID]_8239231[PMID]_18319312[PMID]_11932321[PMID]","terms":[{"hpo":"HP:0004319","label":"Decreased circulating aldosterone level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001007","label":"Hirsutism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003154","label":"Increased circulating ACTH level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012030","label":"Increased urinary cortisol level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030087","label":"Abnormal testosterone level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001061","label":"Acne","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008221","label":"Adrenal hyperplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002900","label":"Hypokalemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200114","label":"Metabolic alkalosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000876","label":"Oligomenorrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000062","label":"Ambiguous genitalia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010458","label":"Female pseudohermaphroditism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002292","label":"Frontal balding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001943","label":"Hypoglycemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003118","label":"Increased circulating cortisol level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000789","label":"Infertility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000798","label":"Oligozoospermia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000826","label":"Precocious puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001297","label":"Stroke","frequency":"Very rare (<4-1%)","criteria":null}]}}