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Summary
CORTISONE REDUCTASE DEFICIENCY 2 CORTRD2
11-BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE I HSD11B1
614662
OMIM = Online Medalian Inheritance of Men
168588
1q32.2
rare
autosomal dominant
mutation in the HSD11B1 gene
symptoms
adrenal hyperplasia
bone age, advanced
obesity
polycystic ovaries
premature pubarche
virilisation
laboratory finding
Adrenocorticotropic hormone (ACTH) increasedplasma
Adrenal androgens (DHEAS, androstenedione) increasedplasma
Literature
Lanthaler B,et al.Genotype-based databases for variants causing rare diseasesGene5501136-1402014
da Rosa MS,et al.Redox homeostasis is compromised in vivo by the metabolites accumulating in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency in rat cerebral cortex and liverFree Radic Res47121066-10752013
Hong F,et al.A family study of 3-hydroxy-3-methylglutaric aciduria with 3 cases of sudden infant death.Zhonghua Er Ke Za Zhi525397-3992014
Fukao T,et al.Ketone body metabolism and its defectsJ Inherit Metab Dis374541-5512014
Pitt JJ,et al.Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: urinary organic acid profiles and expanded spectrum of mutationsJ Inherit Metab Dis383459-4662015
Santarelli F,et al.A neonatal case of 3-hydroxy-3-methylglutaric-coenzyme A lyase deficiencyItal J Pediatr390332013