| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (21.2%) |
30158362 |
Glucocorticoid resistance syndrome caused by a novel NR3C1 point mutation. Al Argan R, Saskin A, Yang JW, D'Agostino MD, Rivera J. Endocr J. 2018;65(11):1139-1146. |
| Anxiety Osteoporosis | ||
| NR3C1 | ||
| Adenofibroma Adrenalectomy Cushing Syndrome Females Glucocorticoid Receptor Homo sapiens Inborn Errors of Metabolism Magnetic Resonance Imaging Middle Aged Osteoporosis Point Mutation Syndrome | ||
| 2 (4.0%) |
30598838 |
Cushing's syndrome with no clinical stigmata - a variant of glucocorticoid resistance syndrome. Gossain VV, El-Rifai M, Krishnan P, Bhavsar B. Clin Diabetes Endocrinol. 2018;4:23. |
| Hirsutism | ||
| NR3C1 POMC | ||
| 2 (4.0%) |
29510671 (5840839) |
An unexpected, mild phenotype of glucocorticoid resistance associated with glucocorticoid receptor gene mutation case report and review of the literature. Molnar A, Patocs A, Liko I, Nyir G, Racz K, Toth M, Sarman B. BMC Med Genet. 2018;19(1):37. |
| Infertility | ||
| Adult Circadian Rhythms Dehydroepiandrosterone Sulfate Females Genetic Counseling Glucocorticoid Receptor Glucocorticoids Heterozygote Homo sapiens Inborn Errors of Metabolism Infertility Missense Mutation Mutation Phenotype Protein Conformation Whole Exome Sequencing | ||
| 2 (4.0%) |
28918421 |
Macrophage activation syndrome at the onset of glucocorticoid-resistant systemic lupus erythematosus: a case report. Tulba D, Balea M, Baicus C. Rom J Intern Med. 2018;56(1):67-70. |
| Proteinuria | ||
| CRP | ||
| Adult Differential Diagnosis Glucocorticoids Homo sapiens Immunosuppressive Agents Lupus Erythematosus, Systemic Macrophage Activation Syndrome Male Remission Induction | ||
| 2 (4.0%) |
27531249 |
[Asteatotic eczema as paraneoplastic syndrome]. Koks N, Assen YJ, Libourel EJ, Eskes SA. Ned Tijdschr Geneeskd. 2016;160:D391. |
| Eczema | ||
| ALK | ||
| Axilla Biopsy Eczema Females Homo sapiens Paraneoplastic Syndromes X-Ray Computed Tomography | ||
| 2 (4.0%) |
26436215 (4597855) |
A Rare Mechanism of Hyponatremia in HIV Disease. Madariaga H, Kumar A, Khanna A. Am J Case Rep. 2015;16:707-10. |
| Adrenal insufficiency | ||
| Differential Diagnosis HIV HIV Infections Homo sapiens Hyponatremia Inappropriate ADH Syndrome Male Young Adult | ||
| 2 (4.0%) |
23923995 |
Glucocorticoid-resistant asthma: more than meets the eye. Reddy D, Little FF. J Asthma. 2013;50(10):1036-44. |
| Asthma | ||
| Adult Asthma Glucocorticoids Homo sapiens Lung Male | ||
| 2 (4.0%) |
23076843 |
Generalized glucocorticoid resistance caused by a novel two-nucleotide deletion in the hormone-binding domain of the glucocorticoid receptor gene NR3C1. Donner KM, Hiltunen TP, Janne OA, Sane T, Kontula K. Eur J Endocrinol. 2013;168(1):K9-K18. |
| Hypertension | ||
| NR3C1 REN | ||
| p|FS|L|773|V|25 | ||
| Adult Animals Base Sequence COS Cells Coronary Artery Disease Females Glucocorticoid Receptor Homo sapiens Inborn Errors of Metabolism Male Renin Sequence Deletion | ||
| 2 (4.0%) |
22570980 (5590677) |
Lack of mutations in the gene coding for the hGR (NR3C1) in a pediatric patient with ACTH-secreting pituitary adenoma, absence of stigmata of Cushing's syndrome and unusual histologic features. Briassoulis G, Horvath A, Christoforou P, Lodish M, Xekouki P, Quezado M, Patronas N, Keil MF, Stratakis CA. J Pediatr Endocrinol Metab. 2012;25(1-2):213-9. |
| Hypertension | ||
| NR3C1 | ||
| ACTH-Secreting Pituitary Adenoma Adenoma Cushing Syndrome Females Glucocorticoid Receptor Homo sapiens Male Mutation | ||
| 2 (4.0%) |
21362280 |
Generalized glucocorticoid resistance accompanied with an adrenocortical adenoma and caused by a novel point mutation of human glucocorticoid receptor gene. Zhu HJ, Dai YF, Wang O, Li M, Lu L, Zhao WG, Xing XP, Pan H, Li NS, Gong FY. Chin Med J (Engl). 2011;124(4):551-5. |
| Hypertension | ||
| NR3C1 | ||
| c|SUB|ACT||ATT c|SUB|C|1667|T | ||
| Adrenal Cortical Adenoma Endocrine System Diseases Glucocorticoid Receptor Glucocorticoids Homo sapiens Male Middle Aged Point Mutation Reverse Transcriptase Polymerase Chain Reaction |
Total: 22
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001007 | Hirsutism | Very frequent (99-80%) |
| HP:0002924 | obsolete Decreased circulating aldosterone level | Very frequent (99-80%) |
| HP:0003118 | Increased circulating cortisol level | Very frequent (99-80%) |
| HP:0003154 | Increased circulating ACTH level | Very frequent (99-80%) |
| HP:0012030 | Increased urinary cortisol level | Very frequent (99-80%) |
| HP:0012378 | Fatigue | Very frequent (99-80%) |
| HP:0000822 | Hypertension | Frequent (79-30%) |
| HP:0000876 | Oligomenorrhea | Frequent (79-30%) |
| HP:0001061 | Acne | Frequent (79-30%) |
| HP:0002900 | Hypokalemia | Frequent (79-30%) |
| HP:0008221 | Adrenal hyperplasia | Frequent (79-30%) |
| HP:0030087 | Abnormal serum testosterone level | Frequent (79-30%) |
| HP:0200114 | Metabolic alkalosis | Frequent (79-30%) |
| HP:0000062 | Ambiguous genitalia | Occasional (29-5%) |
| HP:0000789 | Infertility | Occasional (29-5%) |
| HP:0000798 | Oligospermia | Occasional (29-5%) |
| HP:0000826 | Precocious puberty | Occasional (29-5%) |
| HP:0001578 | None | Occasional (29-5%) |
| HP:0001943 | Hypoglycemia | Occasional (29-5%) |
| HP:0002292 | Frontal balding | Occasional (29-5%) |
| HP:0010458 | Female pseudohermaphroditism | Occasional (29-5%) |
| HP:0001297 | Stroke | Very rare (4-1%) |
Total: 15
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000822 | Hypertension | 5 |
| HP:0001007 | Hirsutism | 2 |
| HP:0012378 | Fatigue | 2 |
| HP:0000739 | Anxiety | 1 |
| HP:0000789 | Infertility | 1 |
| HP:0000824 | Growth hormone deficiency | 1 |
| HP:0000876 | Oligomenorrhea | 1 |
| HP:0001047 | Atopic dermatitis | 1 |
| HP:0001050 | Plethora | 1 |
| HP:0001909 | Leukemia | 1 |
| HP:0001949 | Hypokalemic alkalosis | 1 |
| HP:0002099 | Asthma | 1 |
| HP:0002900 | Hypokalemia | 1 |
| HP:0002902 | Hyponatremia | 1 |
| HP:0008256 | Adrenocortical adenoma | 1 |