NUCLEAR RECEPTOR SUBFAMILY 3, GROUP C, MEMBER 1

General Information (adopted from Orphanet):

Synonyms, Signs: GRL DEFICIENCY, INCLUDED
GCR DEFICIENCY, INCLUDED
NR3C1 GLUCOCORTICOID RECEPTOR DEFICIENCY, INCLUDED
NUCLEAR RECEPTOR SUBFAMILY 3, GROUP C, MEMBER 1
PSEUDOHERMAPHRODITISM, FEMALE, WITH HYPOKALEMIA, DUE TO GLUCOCORTICOID RESISTANCE, INCLUDED
GCCR DEFICIENCY, INCLUDED
GLUCOCORTICOID RESISTANCE, INCLUDED
CORTISOL RESISTANCE FROM GLUCOCORTICOID RECEPTOR DEFECT, INCLUDED
BODY COMPOSITION, BENEFICIAL, INCLUDED
GRL
GCCR
GCR
Number of Symptoms 7
OrphanetNr:
OMIM Id: 138040
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0012030) Increased urinary cortisol level 1 / 7739
2
(HPO:0000822) Hypertension 224 / 7739
3
(HPO:0001949) Hypokalemic alkalosis 5 / 7739
4
(OMIM) Increased urinary free cortisol 1 / 7739
5
(OMIM) Slightly elevated 24-hour mean plasma cortisol 1 / 7739
6
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
7
(OMIM) Glucocorticoid receptor defect 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Vingerhoeds et al. (1976) reported a case of cortisol resistance. High levels of cortisol (without stigmata of Cushing syndrome), resistance of the hypothalamic-pituitary-adrenal axis to dexamethasone, and an affinity defect of the glucocorticoid receptor characterized the disorder. Chrousos ...
Molecular genetics OMIM Bray and Cotton (2003) reported 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 associated with glucocorticoid resistance, as well as 16 ...