{"orpha":361,"name":"Familial glucocorticoid deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Familial glucocorticoid deficiency (FGD) is a group of primary adrenal insufficiencies characterized clinically by neonatal hyperpigmentation, hypoglycemia, failure to thrive, and recurrent infections, and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-361/","orphanet_url":"https://www.orpha.net/en/disease/detail/361","names":{"fr":{"name":"Déficit isolé familial en glucocorticoïdes","definition":"Groupe d'insuffisances surrénaliennes primaires caractérisées sur le plan clinique par une hyperpigmentation néonatale, une hypoglycémie, un retard de croissance et des infections récurrentes, et sur le plan biochimique par un déficit en glucocorticoïdes sans déficit en minéralocorticoïdes."},"de":{"name":"Glukokortikoid-Mangel, familiärer"},"es":{"name":"Deficiencia familiar de glucocorticoides","definition":"Es un grupo de insuficiencias suprarrenales primarias caracterizado clínicamente por hiperpigmentación neonatal, hipoglucemia, fallo de medro e infecciones recurrentes, y bioquímicamente por deficiencia de glucocorticoides sin déficit de mineralocorticoides."},"it":{"name":"Deficit familiare di glucocorticoidi"},"nl":{"name":"Familiale glucocorticoïddeficiëntie","definition":"Familiale glucocorticoïddeficiëntie (FGD) is een groep van primaire bijnierschorsinsufficiënties die klinisch gekarakteriseerd worden door neonatale hyperpigmentatie, hypoglycemie, groeiachterstand en recurrente infecties, en biochemisch door glucocorticoïddeficiëntie zonder mineralocorticoïddeficiëntie."},"pt":{"name":"Deficiência de glucocorticóides familiar"},"pl":{"name":"Rodzinny Niedobór glikokortykoidów"},"cs":{"name":"Familiární deficit glukokortikoidů"},"uk":{"name":"Сімейний дефіцит глюкокортикоїдів","definition":"Familial glucocorticoid deficiency (FGD) is a group of primary adrenal insufficiencies characterized clinically by neonatal hyperpigmentation, hypoglycemia, failure to thrive, and recurrent infections, and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency."},"zh":{"name":"家族性糖皮质激素缺乏症"},"tr":{"name":"Ailesel glukokortikoid eksikliği"}},"xrefs":[{"source":"OMIM","code":"202200","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"202355","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"607398","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"609197","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614736","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617825","qualifier":"BTNT","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":"index","validated":true,"icd11_uri":"861297039"},{"source":"MONDO","code":"0008733","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4054695","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2498","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10082603","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]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"STAR","name":"steroidogenic acute regulatory protein","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"19773404[PMID]","hgnc":"11359","ensembl":"ENSG00000147465","omim":"600617","loci":["8p11.23"]},{"symbol":"TXNRD2","name":"thioredoxin reductase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24601690[PMID]","hgnc":"18155","ensembl":"ENSG00000184470","omim":"606448","loci":["22q11.21"]},{"symbol":"MC2R","name":"melanocortin 2 receptor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"8069303[PMID]_17128564[PMID]_18492762[PMID]","hgnc":"6930","ensembl":"ENSG00000185231","omim":"607397","loci":["18p11.21"]},{"symbol":"MRAP","name":"melanocortin 2 receptor accessory protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15654338[PMID]_17893271[PMID]_20427498[PMID]","hgnc":"1304","ensembl":"ENSG00000170262","omim":"609196","loci":["21q22.11"]},{"symbol":"NNT","name":"nicotinamide nucleotide transhydrogenase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22634753[PMID]","hgnc":"7863","ensembl":"ENSG00000112992","omim":"607878","loci":["5p12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.4953,"area":"Ireland","status":"Validated","source":"18430777[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-05-13","source":"4302512[PMID]_7627261[PMID]_1320052[PMID]_15654338[PMID]_12384787[PMID]_22634753[PMID]_27129361[PMID]_24601690[PMID]","terms":[{"hpo":"HP:0000846","label":"Adrenal insufficiency","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0008163","label":"Decreased circulating cortisol level","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0011043","label":"Abnormality of circulating adrenocorticotropin level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031214","label":"Decreased circulating dehydroepiandrosterone concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007440","label":"Generalized hyperpigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002615","label":"Hypotension","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031076","label":"Impaired cortisol response to insulin stimulation test","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012734","label":"Ketotic hypoglycemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002039","label":"Anorexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012432","label":"Chronic fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002574","label":"Episodic abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002153","label":"Hyperkalemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012605","label":"Hypernatriuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002173","label":"Hypoglycemic seizures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002902","label":"Hyponatremia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000127","label":"Renal salt wasting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004319","label":"Decreased circulating aldosterone level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000826","label":"Precocious puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000098","label":"Tall stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025451","label":"Testicular adrenal rest tumor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000027","label":"Azoospermia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000851","label":"Congenital hypothyroidism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001639","label":"Hypertrophic cardiomyopathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001325","label":"Hypoglycemic coma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100618","label":"Leydig cell neoplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000010","label":"Recurrent urinary tract infections","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002445","label":"Tetraplegia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Excluded (0%)","criteria":null}]}}