Renal Tubulopathies and related disorders
Gene: NR3C1
Hurley et al. (1991) identified a heterozygous missense mutation in the GCR gene (D641V) in affected members of the kindred originally reported by Vingerhoeds et al. (1976) with generalized glucocorticoid deficiency.
Karl et al. (1993) identified heterozygosity for a 4-bp deletion in the GCR gene in all 3 affected members of a Dutch kindred with glucocorticoid resistance.
Bray and Cotton (2003) stated that a total of 15 missense, 3 nonsense, 3 frameshift, 1 splice site, and 2 alternatively spliced mutations had been reported in the NR3C1 gene to be associated with glucocorticoid resistance.
Hyperandrogenism also presents with features of ambiguous genitalia, precocious puberty, advanced bone age, infertility, amenorrhea, clitoromegaly, oligospermia.Created: 10 Mar 2021, 9:56 a.m. | Last Modified: 10 Mar 2021, 9:56 a.m.
Panel Version: 0.6653
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Glucocorticoid resistance, OMIM # 615962
Publications
Hurley et al. (1991) identified a heterozygous missense mutation in the GCR gene (D641V) in affected members of the kindred originally reported by Vingerhoeds et al. (1976) with generalized glucocorticoid deficiency.
Karl et al. (1993) identified heterozygosity for a 4-bp deletion in the GCR gene in all 3 affected members of a Dutch kindred with glucocorticoid resistance.
Bray and Cotton (2003) stated that a total of 15 missense, 3 nonsense, 3 frameshift, 1 splice site, and 2 alternatively spliced mutations had been reported in the NR3C1 gene to be associated with glucocorticoid resistance. Sixteen polymorphisms in the gene had also been reported.
Sources: LiteratureCreated: 10 Mar 2021, 4:12 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Glucocorticoid resistance, OMIM # 615962
Publications
gene: NR3C1 was added gene: NR3C1 was added to Renal Tubulopathies and related disorders. Sources: Literature,Expert Review Green Mode of inheritance for gene: NR3C1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NR3C1 were set to 12754700, 1704018, 8445027, 31995340 Phenotypes for gene: NR3C1 were set to Glucocorticoid resistance, OMIM # 615962