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Pediatric Disease Annotations & Medicines



   glucocorticoid resistance
  

Disease ID 608
Disease glucocorticoid resistance
Definition
An autosomal dominant condition due to mutation(s) in the NR3C1 gene, encoding the glucocorticoid receptor, resulting in decreased receptor affinity to glucocorticoids. Compensatory activation of the hypothalamic- pituitary-adrenal (HPA) axis results in increased mineralocorticoid and androgen production; clinical manifestations of glucocorticoid deficiency are rare.
Synonym
cortisol resistance from glucocorticoid receptor defect
gccr deficiency
gcr deficiency
glucocorticoid receptor deficiency
glucocorticoid resistance, generalized
grl deficiency
Orphanet
OMIM
UMLS
C1841972
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:18)
C0023448  |  lymphoblastic leukemia  |  2
C0004096  |  bronchial asthma  |  2
C0004096  |  asthma  |  2
C0023449  |  acute lymphoblastic leukemia  |  2
C0021390  |  inflammatory bowel disease  |  2
C0272286  |  immune thrombocytopenia  |  1
C0023434  |  chronic lymphocytic leukaemia  |  1
C0011615  |  atopic dermatitis  |  1
C0001622  |  hypercortisolism  |  1
C0040034  |  thrombocytopenia  |  1
C0041696  |  major depression  |  1
C0023418  |  leukemia  |  1
C0010346  |  crohn's disease  |  1
C0001430  |  adenoma  |  1
C0024141  |  systemic lupus erythematosus  |  1
C0011570  |  depression  |  1
C0206667  |  adrenocortical adenoma  |  1
C0023434  |  chronic lymphocytic leukemia  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:1)
NR3C1  |  2908  |  ORPHANET;UNIPROT
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:1)
2908  |  NR3C1  |  infer
Text Mined Gene(Waiting for update.)
Locus
Symbol | Locus(Total Locus:1)
NR3C1  |  5q31.3
Disease ID 608
Disease glucocorticoid resistance
Integrated Phenotype
HPO | Name(Total Integrated Phenotypes:22)
HP:0001578  |  Hypercortisolism
HP:0008221  |  Adrenal hyperplasia
HP:0200114  |  Metabolic alkalosis
HP:0000789  |  Infertility
HP:0003154  |  Increased circulating ACTH level
HP:0012030  |  Increased urinary cortisol level
HP:0000798  |  Oligospermia
HP:0000822  |  Hypertension
HP:0003118  |  Increased circulating cortisol level
HP:0002292  |  Frontal balding
HP:0001007  |  Hirsutism
HP:0001943  |  Hypoglycemia
HP:0002900  |  Hypokalemia
HP:0012378  |  Fatigue
HP:0001061  |  Acne
HP:0030087  |  Abnormal testosterone level
HP:0000876  |  Oligomenorrhea
HP:0000062  |  Ambiguous genitalia
HP:0002924  |  Decreased circulating aldosterone level
HP:0001297  |  Stroke
HP:0010458  |  Female pseudohermaphroditism
HP:0000826  |  Precocious puberty
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:15)
HP:0002099  |  Asthma  |  4
HP:0006721  |  Acute lymphocytic leukemia  |  2
HP:0001873  |  Low platelet count  |  1
HP:0000716  |  Depression  |  1
HP:0001047  |  Atopic dermatitis  |  1
HP:0002664  |  Neoplasia  |  1
HP:0012649  |  Increased inflammatory response  |  1
HP:0100280  |  Morbus Crohn  |  1
HP:0008256  |  Adrenocortical adenomas  |  1
HP:0001909  |  Leukemia  |  1
HP:0001578  |  Hypercortisolism  |  1
HP:0001973  |  Autoimmune thrombocytopenia  |  1
HP:0005550  |  Chronic lymphatic leukemia  |  1
HP:0002725  |  Systemic lupus erythematosus  |  1
HP:0000855  |  Insulin resistance  |  1
Disease ID 608
Disease glucocorticoid resistance
Manually Symptom
UMLS  | Name(Total Manually Symptoms:1)
C0221406  |  cushing's disease
Text Mined Symptom(Waiting for update.)
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:4)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs104893913233912712908NR3C1umls:C1841972BeFreeFurther characterization of human glucocorticoid receptor mutants, R477H and G679S, associated with primary generalized glucocorticoid resistance.0.2557436292013NR3C15143310135CT
rs104893914233912712908NR3C1umls:C1841972BeFreeFurther characterization of human glucocorticoid receptor mutants, R477H and G679S, associated with primary generalized glucocorticoid resistance.0.2557436292013NR3C1;LOC1053782065143282714CT
rs2845161722445700115ADCY9umls:C1841972BeFreeMultivariable analysis revealed that respiratory distress syndrome was associated with maternal single nucleotide polymorphisms in CYP3A5 (odds ratio [OR], 1.63; 95% confidence interval [CI], 1.16-2.30) and the glucocorticoid resistance (OR, 0.28; 95% CI, 0.08-0.95) and fetal single nucleotide polymorphisms in ADCY9 (OR, 0.17; 95% CI, 0.03-0.80) and CYP3A7*1E (rs28451617; OR, 23.68; 95% CI, 1.33-420.6).0.0002714422012CYP3A7;ZSCAN25;CYP3A7-CYP3A51P799735142CT
rs28451617224457001577CYP3A5umls:C1841972BeFreeMultivariable analysis revealed that respiratory distress syndrome was associated with maternal single nucleotide polymorphisms in CYP3A5 (odds ratio [OR], 1.63; 95% confidence interval [CI], 1.16-2.30) and the glucocorticoid resistance (OR, 0.28; 95% CI, 0.08-0.95) and fetal single nucleotide polymorphisms in ADCY9 (OR, 0.17; 95% CI, 0.03-0.80) and CYP3A7*1E (rs28451617; OR, 23.68; 95% CI, 1.33-420.6).0.0002714422012CYP3A7;ZSCAN25;CYP3A7-CYP3A51P799735142CT
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Chemical(Total Drugs:0)
(Waiting for update.)
FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)
FDA labeling changes(Total Drugs:0)
(Waiting for update.)