{"orpha":90790,"name":"Congenital lipoid adrenal hyperplasia due to STAR deficency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CLAH","LCAH","Lipoid CAH"],"definition":"A severe form of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-90790/","orphanet_url":"https://www.orpha.net/en/disease/detail/90790","names":{"fr":{"name":"Hyperplasie congénitale lipoïde des surrénales par déficit en STAR","synonyms":["LCAH","Lipoid CAH","CLAH"],"definition":"Forme sévère d'hyperplasie congénitale des surrénales (HCS) caractérisée par une insuffisance surrénale sévère et une différence de développement sexuel chez les garçons."},"de":{"name":"Nebennierenhyperplasie, kongenitale lipoide, durch STAR-Mangel","synonyms":["CLAH","LCAH"],"definition":"Eine schwere Form der kongenitalen Nebennierenhyperplasie (CAH), die durch schwere Nebenniereninsuffizienz und Geschlechtsumkehr im männlichen Geschlecht gekennzeichnet ist."},"es":{"name":"Hiperplasia suprarrenal congénita lipoide por deficiencia de STAR","synonyms":["HSC lipoide"],"definition":"Es una forma grave de hiperplasia suprarrenal congénita (HSC) caracterizada por insuficiencia suprarrenal grave y síndrome del sexo inverso varones."},"it":{"name":"Iperplasia surrenalica lipoide congenita da deficit di STAR","synonyms":["LCAH","Lipoid CAH","CLAH"],"definition":"Si tratta di una forma grave di iperplasia congenita dei surreni (CAH), caratterizzata da grave insufficienza surrenalica e inversione sessuale nei maschi."},"nl":{"name":"Congenitale lipoïde adrenale hyperplasie door STAR-deficiëntie","synonyms":["CLAH","Congenitale lipoïde bijnierhyperplasie door STAR-deficiëntie","LCAH","Lipoïde CAH"],"definition":"Een ernstige vorm van congenitale adrenale hyperplasie (CAH), gekenmerkt door ernstige bijnierschorsinsufficiëntie en geslachtsomkering bij mannen."},"pt":{"name":"Hiperplasia supra-renal lipóide congénita por deficiência de STAR","synonyms":["CAH lipóide","CLAH","LCAH"],"definition":"Forma grave de hiperplasia supra-renal congénita (HCSR) caracterizada por insuficiência supra-renal grave e reversão sexual em indivíduos masculinos."},"pl":{"name":"Wrodzony lipoidowy przerost nadnerczy spowodowany niedoborem STAR","synonyms":["CLAH"]},"cs":{"name":"Vrozená lipoidní adrenální hyperplázie způsobená deficitem STAR","synonyms":["CLAH"]},"uk":{"name":"Вроджена ліпоїдна гіперплазія надниркових залоз внаслідок дефіциту STAR","synonyms":["CLAH"],"definition":"A severe form of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males."},"zh":{"name":"STAR缺乏所致先天性类脂性肾上腺皮质增生症","synonyms":["CLAH"]},"tr":{"name":"STAR eksikliğine bağlı doğumsal lipoid adrenal hiperplazi","synonyms":["CLAH"]}},"xrefs":[{"source":"OMIM","code":"201710","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E25.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A71.01","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"832786122"},{"source":"MONDO","code":"0008725","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537027","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0342474","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1465","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":90786,"name":"46,XY difference of sex development due to adrenal and testicular steroidogenesis defect","classifications":[147,156,185,193,205,233]},{"orpha":418,"name":"Congenital adrenal hyperplasia","classifications":[156,193]},{"orpha":400018,"name":"Rare female infertility due to adrenal disorder of genetic origin","classifications":[156]},{"orpha":399849,"name":"Rare female infertility due to an adrenal disorder","classifications":[201]},{"orpha":485382,"name":"Rare genetic premature ovarian failure","classifications":[156]},{"orpha":95710,"name":"Rare non-acquired premature ovarian failure","classifications":[193,205]}],"children":[{"orpha":325524,"name":"Classic congenital lipoid adrenal hyperplasia due to STAR deficency","type":"Clinical subtype"},{"orpha":325529,"name":"Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"STAR","name":"steroidogenic acute regulatory protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20444910[PMID]","hgnc":"11359","ensembl":"ENSG00000147465","omim":"600617","loci":["8p11.23"],"via":{"orpha":325524,"name":"Classic congenital lipoid adrenal hyperplasia due to STAR deficency"}},{"symbol":"STAR","name":"steroidogenic acute regulatory protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20444910[PMID]","hgnc":"11359","ensembl":"ENSG00000147465","omim":"600617","loci":["8p11.23"],"via":{"orpha":325529,"name":"Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency"}}],"inheritance":["Autosomal recessive"],"onset":["Childhood","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":"2021-03-23","source":"32835366[PMID]_33227378[PMID]","terms":[{"hpo":"HP:0008730","label":"Female external genitalia in individual with 46,XY karyotype","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000953","label":"Hyperpigmentation of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003154","label":"Increased circulating ACTH level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030347","label":"Abnormal circulating androgen level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000055","label":"Abnormality of female external genitalia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008221","label":"Adrenal hyperplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008163","label":"Decreased circulating cortisol level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000841","label":"Hyperactive renin-angiotensin system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002153","label":"Hyperkalemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002902","label":"Hyponatremia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010885","label":"Avascular necrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001298","label":"Encephalopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001943","label":"Hypoglycemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000053","label":"Macroorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000037","label":"Male pseudohermaphroditism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002090","label":"Pneumonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003002","label":"Breast carcinoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012114","label":"Endometrial carcinoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0040187","label":"Neonatal sepsis","frequency":"Very rare (<4-1%)","criteria":null}]}}