Familial Glucocorticoid Deficiency
What's New
Last Posted: Mar 15, 2023
- A rare homozygous variant of MC2R gene identified in a Chinese family with familial glucocorticoid deficiency type 1: A case report.
Liu ShuPing, et al. Frontiers in endocrinology 2023 0 1113234 - Two siblings with non-classic P450scc deficiency resulted from a novel mutation in CYP11A1 gene misdiagnosed as familial glucocorticoid deficiency.
Le Binh Thanh et al. BMJ case reports 2023 15(12) - Familial glucocorticoid deficiency
From NCATS Genetic and Rare Diseases Information Center - Isolated Addison's disease is unlikely to be caused by mutations in MC2R, MRAP or STAR, three genes responsible for familial glucocorticoid deficiency.
Dias R P, et al. European journal of endocrinology / European Federation of Endocrine Societies 2010 2 (2) 357-9 - Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2.
Chung Teng-Teng L L, et al. Clinical endocrinology 2010 5 (5) 589-94 - Novel polymorphisms and lack of mutations in the ACD gene in patients with ACTH resistance syndromes.
Keegan Catherine E, et al. Clinical endocrinology 2007 8 (2) 168-74
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Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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- Page last reviewed:Feb 1, 2024
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