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Glucocorticoid deficiency 1 is an adrenocortical failure characterized by low levels of plasma cortisol produced by the adrenal gland despite high levels of plasma ACTH. This is an inherited disorder with several different causes which define the type. FGD type 1 (FGD1 or GCCD1) is caused by mutations in the ACTH receptor (melanocortin 2 receptor; MC2R). FGD type 2 is caused by mutations in the MC2R accessory protein (MRAP). These two types account for 45% of all cases of FGD.

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rdfs:label
  • Glucocorticoid deficiency 1 (en)
  • 腎上腺皮促素抗性症候群 (zh)
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  • 腎上腺皮促素抗性症候群是由數種罕見病徵所組成的症候群，有時抗性成為唯一單獨存在的表徵。腎上腺皮促素抗性症候群其中包括家族性糖皮素缺乏症與Triple A症候群。 家族性糖皮素缺乏症患者於ACTH接受器的位置有數個，但並非所有患者皆會發生此突變。Triple A症候群典型特徵為腎上腺缺失，不能與淚液減少三種組合，並伴隨一些較為多變的神經學症狀。 其發生率若為1/4。 遺傳方面，其遺傳方式為一體染色體隱性遺傳。 (zh)
  • Glucocorticoid deficiency 1 is an adrenocortical failure characterized by low levels of plasma cortisol produced by the adrenal gland despite high levels of plasma ACTH. This is an inherited disorder with several different causes which define the type. FGD type 1 (FGD1 or GCCD1) is caused by mutations in the ACTH receptor (melanocortin 2 receptor; MC2R). FGD type 2 is caused by mutations in the MC2R accessory protein (MRAP). These two types account for 45% of all cases of FGD. (en)
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  • http://commons.wikimedia.org/wiki/Special:FilePath/Autosomal_recessive_-_en.svg
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ICD
  • E27.1 (en)
OMIM
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  • Glucocorticoid deficiency 1 is inherited in an autosomal recessive manner (en)
synonyms
  • FGD or GCCD (en)
has abstract
  • Glucocorticoid deficiency 1 is an adrenocortical failure characterized by low levels of plasma cortisol produced by the adrenal gland despite high levels of plasma ACTH. This is an inherited disorder with several different causes which define the type. FGD type 1 (FGD1 or GCCD1) is caused by mutations in the ACTH receptor (melanocortin 2 receptor; MC2R). FGD type 2 is caused by mutations in the MC2R accessory protein (MRAP). These two types account for 45% of all cases of FGD. Some cases of FGD type 3 are caused by mutations in the steroidogenic acute regulatory protein (StAR), with similarity to the nonclassic form of lipoid congenital adrenal hyperplasia. In this case, a general impairment in not just adrenal steroid production, but gonadal steroid production can affect sexual development and fertility. The causes of other cases of FGD type 3 not due to StAR are currently unknown. (en)
  • 腎上腺皮促素抗性症候群是由數種罕見病徵所組成的症候群，有時抗性成為唯一單獨存在的表徵。腎上腺皮促素抗性症候群其中包括家族性糖皮素缺乏症與Triple A症候群。 家族性糖皮素缺乏症患者於ACTH接受器的位置有數個，但並非所有患者皆會發生此突變。Triple A症候群典型特徵為腎上腺缺失，不能與淚液減少三種組合，並伴隨一些較為多變的神經學症狀。 其發生率若為1/4。 遺傳方面，其遺傳方式為一體染色體隱性遺傳。 (zh)
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ICD10
  • E27.1
OMIM id
ORPHA
  • 361
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