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Glucocorticoid resistance
1 associated gene
91 connected diseases
No signs/symptoms info
Disease Type of connection
Acute promyelocytic leukemia
Coffin-Siris syndrome
Papillary or follicular thyroid carcinoma
Essential thrombocythemia
Precursor B-cell acute lymphoblastic leukemia
Giant cell glioblastoma
Gliosarcoma
Familial rhabdoid tumor
Amyotrophic lateral sclerosis
Familial multiple meningioma
Retinitis pigmentosa
Translocation renal cell carcinoma
Anaplastic ependymoma
Laron syndrome with immunodeficiency
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Aneurysm - osteoarthritis syndrome
Autosomal dominant hyper-IgE syndrome
Familial thoracic aortic aneurysm and aortic dissection
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Familial pancreatic carcinoma
Li-Fraumeni syndrome
Papilloma of choroid plexus
Acute myeloid leukemia with CEBPA somatic mutations
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Inherited acute myeloid leukemia
Melanoma of soft part
Myelofibrosis with myeloid metaplasia
Fraser syndrome
Omenn syndrome
Severe combined immunodeficiency due to adenosine deaminase deficiency
Spinocerebellar ataxia type 17
LEOPARD syndrome
Noonan syndrome
Pilocytic astrocytoma
Pseudohyperaldosteronism type 2
Renal pseudohypoaldosteronism type 1
46,XX gonadal dysgenesis
Common variable immunodeficiency
Cowden syndrome
Intellectual deficit - sparse hair - brachydactyly
Proteus syndrome
Combined pituitary hormone deficiencies, genetic forms
Complete androgen insensitivity syndrome
Dedifferentiated liposarcoma
Familial hypospadias
Hypothyroidism due to deficient transcription factors involved in pituitary development or function
Kennedy disease
Partial androgen insensitivity syndrome
Severe combined immunodeficiency due to LCK deficiency
Well-differentiated liposarcoma
Cerebellar ataxia - hypogonadism
Congenital hereditary facial paralysis with variable hearing loss
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
Catecholaminergic polymorphic ventricular tachycardia
Distal 22q11.2 microdeletion syndrome
Autosomal dominant spastic paraplegia type 13
Bohring-Opitz syndrome
Charcot-Marie-Tooth disease type 2B2
Combined immunodeficiency due to CD3gamma deficiency
Craniosynostosis, Boston type
FTH1-related iron overload
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Familial partial lipodystrophy associated with PPARG mutations
Goldmann-Favre syndrome
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Microcephalic primordial dwarfism, Alazami type
Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism
Parietal foramina
Parietal foramina with cleidocranial dysplasia
Pelizaeus-Merzbacher-like due to HSPD1 mutation
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
T-B+ severe combined immunodeficiency due to CD3delta / CD3epsilon / CD3zeta
Treacher-Collins syndrome
Autosomal dominant progressive external ophthalmoplegia
Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
Atypical teratoid tumor
Neurofibromatosis type 3
Severe combined immunodeficiency due to DNA-PKcs deficiency
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency
4-hydroxybutyric aciduria
46,XY complete gonadal dysgenesis
46,XY partial gonadal dysgenesis
Angelman syndrome
Cytomegalic congenital adrenal hypoplasia
Inflammatory myofibroblastic tumor
Sterile multifocal osteomyelitis with periostitis and pustulosis
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare urogenital disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
NR3C1 P04150138040
No signs/symptoms info available.