Primary Pigmented Nodular Adrenocortical Disease
Last Posted: Sep 08, 2020
- Predicting the risk of cardiac myxoma in Carney complex.
Pitsava Georgia et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Sep
- Differences in adiposity in Cushing syndrome caused by PRKAR1A mutations: clues for the role of cyclic AMP signaling in obesity and diagnostic implications.
London Edra, et al. The Journal of clinical endocrinology and metabolism 2014 2 (2) E303-10
- Primary pigmented nodular adrenocortical disease
From NCATS Genetic and Rare Diseases Information Center
- Frequent phosphodiesterase 11A gene (PDE11A) defects in patients with Carney complex (CNC) caused by PRKAR1A mutations: PDE11A may contribute to adrenal and testicular tumors in CNC as a modifier of the phenotype.
Libé Rossella, et al. The Journal of clinical endocrinology and metabolism 2011 1 (1) E208-14
- Mutations in regulatory subunit type 1A of cyclic adenosine 5'-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes.
Bertherat Jérôme, et al. The Journal of clinical endocrinology and metabolism 2009 6 (6) 2085-91
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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