{"orpha":289548,"name":"Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency is a rare, genetic, chronic, primary adrenal insufficiency disorder, due to partial loss-of-function CYP11A1 mutations, characterized by early-onset adrenal insufficiency without associated abnormal external male genitalia. Patients present with signs of adrenal crisis, including electrolite abnormalities, severe weakness, recurrent vomiting and seizures. Ultrasound reveals absent (or very small) adrenal glands.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-289548/","orphanet_url":"https://www.orpha.net/en/disease/detail/289548","names":{"fr":{"name":"Insuffisance surrénalienne héréditaire isolée par déficit partiel en CYP11A1","definition":"Un trouble génétique rare d'insuffisance surrénalienne primaire chronique, causé par des mutations perte de fonction partielle en CYP11A1. Il se caractérise par un insuffisance surrénalienne précoce, sans anomalie des organes génitaux sexuels masculins. Les patients présentent des signes de crise surrénalienne, incluant des anomalies des électrolytes, une faiblesse sévère, des vomissements récurrents et des convulsions. L'échographie révèle des glandes surrénales absentes (ou très petites)."},"de":{"name":"Nebenniereninsuffizienz, isolierte vererbte, durch CYP11A1-Mangel","synonyms":["CYP11A1-Mangel, partieller"],"definition":"Die vererbte isolierte Nebenniereninsuffizienz aufgrund eines partiellen CYP11A1-Mangels ist eine seltene, genetisch bedingte, chronisch primäre Nebenniereninsuffizienz, die aus partiellen Loss-of-function-Mutationen im <i>CYP11A1</i>-Gen resultiert und durch eine früh einsetzende Nebenniereninsuffizienz ohne damit verbundene äußere männliche Genitalanomalien gekennzeichnet ist. Die Patienten präsentieren sich mit Anzeichen einer Nebennierenkrise, einschließlich Störungen des Elektrolythaushalts, schwerer Schwäche, wiederkehrendem Erbrechen und Krampfanfällen. Die Ultraschalluntersuchung zeigt fehlende (oder sehr kleine) Nebennieren."},"es":{"name":"Insuficiencia suprarrenal hereditaria aislada por deficiencia de CYP11A1","definition":"La insuficiencia suprarrenal hereditaria aislada por deficiencia de CYP11A1 es un trastorno de insuficiencia suprarrenal crónica primaria, genético y poco frecuente, debido a mutaciones en CYP11A1 con pérdida parcial de función. Está caracterizada por insuficiencia suprarrenal de inicio temprano, sin genitales masculinos externos anómalos. Los afectados presentan signos de crisis suprarrenal, que incluyen alteraciones electrolíticas, debilidad grave, vómitos y convulsiones recurrentes. La ecografía revela glándulas suprarrenales ausentes (o muy pequeñas)."},"it":{"name":"Insufficienza isolata ereditaria del surrene da deficit parziale di CYP11A1","definition":"L'insufficienza surrenale isolata ereditaria da deficit parziale di CYP11A1 è una malattia rara e cronica, di origine genetica, con insufficienza primitiva del surrene. È causata dalle mutazioni con parziale perdita di funzione del gene CYP11A1. È caratterizzata da insufficienza surrenalica ad esordio precoce, in assenza di anomalie dei genitali maschili esterni. I pazienti presentano i segni clinici caratteristici della crisi surrenalica, che comprendono anomalie degli elettroliti, significativa debolezza, vomito ricorrente e crisi epilettiche. L'esame ecografico evidenzia l'assenza (o una riduzione del volume) delle ghiandole surrenali."},"nl":{"name":"Overgeërfde geïsoleerde adrenale insufficiëntie door CYP11A1-deficiëntie","synonyms":["Overgeërfde geïsoleerde bijnierinsufficiëntie door CYP11A1-deficiëntie"],"definition":"Overgeërfde geïsoleerde adrenale insufficiëntie door partiële CYP11A1-deficiëntie is een zeldzame, genetische, chronische, primaire bijnierschorsinsufficiëntie als gevolg van mutaties met gedeeltelijk functieverlies in CYP11A1, en wordt gekarakteriseerd door vroeg aanvangende bijnierschorsinsufficiëntie, zonder associatie met abnormale externe mannelijke genitaliën. Patiënten vertonen tekenen van adrenale crisis, waaronder afwijkingen van elektrolyten, ernstige zwakheid, terugkerend braken en insulten. Echografie toont afwezige (of hele kleine) bijnieren."},"pt":{"name":"Insuficiência supra-renal isolada hereditária por deficiência parcial de CYP11A1"},"pl":{"name":"Dziedziczna izolowana niedoczynność nadnerczy z powodu niedoboru CYP11A1"},"cs":{"name":"Dědičná izolovaná insuficience nadledvin způsobená deficitem CYP11A1"},"uk":{"name":"Спадкова ізольована недостатність надниркових залоз внаслідок часткового дефіциту CYP11A1","definition":"Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency is a rare, genetic, chronic, primary adrenal insufficiency disorder, due to partial loss-of-function CYP11A1 mutations, characterized by early-onset adrenal insufficiency without associated abnormal external male genitalia. Patients present with signs of adrenal crisis, including electrolite abnormalities, severe weakness, recurrent vomiting and seizures. Ultrasound reveals absent (or very small) adrenal glands."},"zh":{"name":"Cyp11a1基因部分缺陷所致遗传性孤立性肾上腺功能不全","definition":"CYP11A1基因部分缺陷所致遗传性孤立性肾上腺功能不全是一种CYP11A1基因突变引起部分功能丧失的罕见遗传性慢性原发性肾上腺功能不全，其特点是早发性肾上腺功能不全，与男性外生殖器异常无关。患者表现为肾上腺危象，包括电石异常、严重萎靡、反复呕吐和癫痫发作。超声显示肾上腺缺失（或极小）。"},"tr":{"name":"Kısmi CYP11A1 eksikliğine bağlı kalıtsal izole adrenal yetersizlik"}},"xrefs":[{"source":"OMIM","code":"613743","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E27.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A74.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017337","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707238","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":101960,"name":"Genetic chronic primary adrenal insufficiency","classifications":[156,193]}],"children":[],"genes":[{"symbol":"CYP11A1","name":"cytochrome P450 family 11 subfamily A member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"21880796[PMID]","hgnc":"2590","ensembl":"ENSG00000140459","omim":"118485","loci":["15q24.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2015-11-02","source":"21159840[PMID]_19116240[PMID]_16705068[PMID]_18182448[PMID]_11502818[PMID]_12161514[PMID]_15507506[PMID]","terms":[{"hpo":"HP:0012244","label":"Abnormal sex determination","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012598","label":"Abnormal urine potassium concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003107","label":"Abnormality of cholesterol metabolism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001197","label":"Abnormality of prenatal development or birth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010789","label":"Abnormality of the Leydig cells","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008187","label":"Absence of secondary sex characteristics","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001941","label":"Acidosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011749","label":"Adrenocorticotropic hormone excess","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000033","label":"Ambiguous genitalia, male","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000151","label":"Aplasia of the uterus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004319","label":"Decreased circulating aldosterone level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030349","label":"Decreased circulating androgen level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008163","label":"Decreased circulating cortisol level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000144","label":"Decreased fertility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008734","label":"Decreased testicular size","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001944","label":"Dehydration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008730","label":"Female external genitalia in individual with 46,XY karyotype","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007574","label":"Generalized bronze hyperpigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007440","label":"Generalized hyperpigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000771","label":"Gynecomastia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002153","label":"Hyperkalemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012605","label":"Hypernatriuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002902","label":"Hyponatremia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002615","label":"Hypotension","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011106","label":"Hypovolemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003154","label":"Increased circulating ACTH level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000848","label":"Increased circulating renin level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030369","label":"Induced vaginal delivery","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008073","label":"Low maternal serum estriol","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000037","label":"Male pseudohermaphroditism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001998","label":"Neonatal hypoglycemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008207","label":"Primary adrenal insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004349","label":"Reduced bone mineral density","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000127","label":"Renal salt wasting","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012245","label":"Sex reversal","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100779","label":"Urogenital sinus anomaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000835","label":"Adrenal hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008232","label":"Elevated circulating follicle stimulating hormone level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011969","label":"Elevated circulating luteinizing hormone level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000142","label":"Abnormality of the vagina","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010512","label":"Adrenal calcification","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008665","label":"Clitoral hypertrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012854","label":"Midshaft hypospadias","frequency":"Occasional (29-5%)","criteria":null}]}}