Familial Glucocorticoid Deficiency
Last Posted: Jan 01, 2011
- 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
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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