MCID: CNN003
MIFTS: 79

Conn's Syndrome

Categories: Blood diseases, Cancer diseases, Endocrine diseases, Metabolic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Conn's Syndrome

MalaCards integrated aliases for Conn's Syndrome:

Name: Conn's Syndrome 12 74 15
Cushing Syndrome 12 52 58 36 54 43 17 71 32
Hyperaldosteronism 12 74 54 43 39 17 71 32
Cushing's Syndrome 12 74 52 53 29 6 42
Primary Hyperaldosteronism 12 52 6 15 32
Primary Aldosteronism 12 74 52 36 15
Hypercortisolism 52 53 58 29 54
Conn Syndrome 12 52 71
Acth Syndrome, Ectopic 17 71
Ectopic Acth Syndrome 52 32
Hyperadrenocorticism 52 58
Adrenal Hyperfunction Resulting from Pituitary Acth Excess 52
Ectopic Adrenocorticotropic Hormone Syndrome 52
Nodular Primary Adrenocortical Dysplasia 52
Adrenal Gland Hyperfunction 71
Adrenal Cushing's Syndrome 71
Adrenal Cortical Adenoma 71
Mineralocorticoid Excess 52
Adrenal Cortex Adenoma 52
Aldosteronism Primary 54
Acth Syndrome Ectopic 54
Cushing's Disease 15

Characteristics:

Orphanet epidemiological data:

58
cushing syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (Europe),1-9/1000000 (Europe),1-9/100000 (Spain),1-9/1000000 (Denmark),1-9/1000000 (Spain),1-9/1000000 (New Zealand),1-9/100000 (New Zealand),<1/1000000 (Italy),1-9/100000 (Worldwide); Age of onset: All ages; Age of death: any age;

Classifications:

Orphanet: 58  
Rare endocrine diseases


Summaries for Conn's Syndrome

NINDS : 53 Cushing's syndrome, also called hypercortisolism, is a rare endocrine disorder caused by chronic exposure of the body's tissues to excess levels of cortisol - a hormone naturally produced by the adrenal gland. Exposure to too much cortisol can occur from long-term use of synthetic glucocorticoid hormones to treat inflammatory illnesses. Pituitary adenomas (benign tumors of the pituitary gland) that secrete increased amounts of ACTH (adrenocorticotropic hormone, a substance that controls the release of cortisol) can also spur overproduction of cortisol. Tumors of the adrenal gland and ectopic ACTH syndrome (a condition in which ACTH is produced by various types of potentially malignant tumors that occur in different parts of the body) can cause similar problems with cortisol balance. Common symptoms of Cushing's syndrome include upper body obesity, severe fatigue and muscle weakness, high blood pressure, backache, elevated blood sugar, easy bruising, and bluish-red stretch marks on the skin. In women, there may be increased growth of facial and body hair, and menstrual periods may become irregular or stop completely. Neurological symptoms include difficulties with memory and neuromuscular disorders.

MalaCards based summary : Conn's Syndrome, also known as cushing syndrome, is related to acth-dependent cushing syndrome and acth-independent cushing syndrome, and has symptoms including agitation and cushingoid facies. An important gene associated with Conn's Syndrome is GNAS (GNAS Complex Locus), and among its related pathways/superpathways are Calcium signaling pathway and Cushing syndrome. The drugs Metyrapone and Bromocriptine have been mentioned in the context of this disorder. Affiliated tissues include pituitary, adrenal gland and testes, and related phenotypes are thin skin and erectile abnormalities

Disease Ontology : 12 An adrenal gland hyperfunction disease that results in the overproduction of aldosterone by the adrenal glands.

NIH Rare Diseases : 52 Cushing's syndrome is an endocrine disorder caused by prolonged exposure of the body's tissues to high levels of cortisol (a hormone produced by the adrenal gland). It most commonly affects adults between age 20 and 50 years. Signs and symptoms of Cushing's syndrome include upper body obesity , fatigue, muscle weakness, high blood pressure , backache, high blood sugar, easy bruising and bluish-red stretch marks on the skin. Affected women may also experience irregular menstrual periods and increased growth of body and facial hair. This condition may be caused by a variety of factors including long-term use of corticosteroid medications , tumors in the pituitary gland or adrenal adenomas .Treatment depends on the underlying cause, but may include decreasing the dosage of corticosteroids or surgery to remove tumors.

MedlinePlus : 42 Cushing's syndrome is a hormonal disorder. The cause is long-term exposure to too much cortisol, a hormone that your adrenal gland makes. Sometimes, taking synthetic hormone medicine to treat an inflammatory disease leads to Cushing's. Some kinds of tumors produce a hormone that can cause your body to make too much cortisol. Cushing's syndrome is rare. Some symptoms are Upper body obesity Thin arms and legs Severe fatigue and muscle weakness High blood pressure High blood sugar Easy bruising Lab tests can show if you have it and find the cause. Your treatment will depend on why you have too much cortisol. If it is because you have been taking synthetic hormones, a lower dose may control your symptoms. If the cause is a tumor, surgery and other therapies may be needed. NIH: National Institute of Diabetes and Digestive and Kidney Diseases

KEGG : 36 Primary aldosteronism is a clinical syndrome characterized by excess secretion of aldosterone from the adrenal gland. It is manifested by hypertension and hyporeninemia. In the past, hypokalemia was thought to be a mandatory finding in primary aldosteronism. However, later studies confirmed that most patients with primary aldosteronism are normokalemic. The prevalence of primary aldosteronism among nonselected hypertensive persons is between 5% and 13%, and it is now recognized to be the most common form of secondary hypertension. There are the seven subtypes of primary aldosteronism. Aldosterone-producing adenoma (APA) and bilateral idiopathic hyperaldosteronism (IHA) are the most common subtypes of primary aldosteronism. Unilateral adrenal hyperplasia, aldosterone-producing adrenocortical carcinoma, ectopic aldosterone-producing adenoma, and familial hyperaldosteronism (type I and typeII) are unusual subtypes. Somatic mutations in KCNJ5, ATP1A1, ATP2B3, and CACNA1D have been described in APAs. Usually, adenomas are managed surgically and bilateral hyperplasia, medically.

Wikipedia : 74 Primary aldosteronism, also known as primary hyperaldosteronism or Conn's syndrome, refers to the excess... more...

Related Diseases for Conn's Syndrome

Diseases related to Conn's Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1070)
# Related Disease Score Top Affiliating Genes
1 acth-dependent cushing syndrome 34.8 PRL POMC CRH
2 acth-independent cushing syndrome 34.6 PRKAR1A PDE11A GNAS CYP21A2 CYP11B1
3 aldosterone-producing adenoma 33.5 KCNJ5 CYP21A2 CYP11B2
4 primary pigmented nodular adrenocortical disease 33.5 PRKAR1A POMC PDE11A NR3C1 MEN1 GNAS
5 mccune-albright syndrome 33.3 SST PRL PRKAR1A PDE11A MEN1 GNAS
6 familial hyperaldosteronism 33.2 MEN1 KCNJ5 CYP11B2 CYP11B1 CACNA1H AGTR1
7 adrenal cortical adenoma 32.9 REN PRKAR1A POMC MEN1 GIPR CYP21A2
8 ectopic cushing syndrome 32.9 SST POMC CRH
9 carney complex variant 32.7 SST PRL PRKAR1A POMC PDE11A MEN1
10 nelson syndrome 32.1 SST PRL POMC NR3C1 CRH
11 pituitary-dependent cushing's disease 32.0 SST PRL POMC NR3C1 CRH
12 hypokalemia 31.4 REN POMC NR3C2 NR3C1 KCNJ5 HSD11B2
13 hypoaldosteronism 31.4 REN POMC CYP11B2
14 adrenocortical carcinoma, hereditary 31.4 PRKAR1A GNAS CYP17A1
15 neurofibromatosis, type ii 31.3 PRL POMC CYP21A2
16 adenoma 31.3 SST REN PRL PRKAR1A POMC MEN1
17 hypoadrenalism 31.3 POMC CRH
18 bronchial adenomas/carcinoids childhood 31.2 SST POMC
19 carcinoid tumors, intestinal 31.2 SST MEN1
20 pituitary tumors 31.2 SST PRL POMC MEN1 GNAS
21 amenorrhea 31.1 PRL POMC CYP17A1 CRH
22 congestive heart failure 31.1 REN NR3C2 CYP11B2 AGTR1
23 acute adrenal insufficiency 31.1 REN POMC CYP21A2
24 thyroid gland medullary carcinoma 31.1 SST POMC MEN1
25 chromophobe adenoma 31.0 PRL POMC
26 pheochromocytoma 31.0 SST REN PRL POMC MEN1 CRH
27 thyroid carcinoma, familial medullary 31.0 SST PRKAR1A MEN1
28 atrial fibrillation 31.0 REN NR3C2 CYP11B2 AGTR1
29 chronic kidney disease 31.0 REN POMC NR3C2 HSD11B2 GNAS CYP11B2
30 pseudohypoaldosteronism 31.0 REN NR3C2 NR3C1
31 adrenal adenoma 30.9 REN PRKAR1A POMC MEN1 KCNJ5 HSD11B2
32 cortisone reductase deficiency 30.9 POMC HSD11B2 CYP21A2
33 gynecomastia 30.9 PRL POMC NR3C2 CYP21A2
34 benign essential hypertension 30.8 REN PRL POMC
35 parathyroid adenoma 30.8 PRKAR1A MEN1 GNAS
36 fibrous dysplasia 30.8 SST PRL GNAS
37 hypoadrenocorticism, familial 30.8 REN POMC CYP21A2 CYP17A1 CYP11B2 CRH
38 hyperthyroidism 30.8 SST REN PRL POMC GNAS
39 multiple endocrine neoplasia, type i 30.8 SST PRL PRKAR1A POMC MEN1 GNAS
40 atypical depressive disorder 30.7 POMC NR3C1 CRH
41 diabetes insipidus 30.7 REN PRL POMC CRH
42 corticosteroid-binding globulin deficiency 30.7 POMC NR3C1 HSD11B2
43 leydig cell tumor 30.7 PRL GNAS CYP21A2 CYP17A1
44 pulmonary edema 30.7 REN NR3C2 NR3C1 AGTR1
45 anxiety 30.7 PRL POMC NR3C1 CRH
46 goiter 30.7 SST PRL GNAS
47 premenstrual tension 30.7 REN POMC
48 pancreatic cystadenoma 30.7 SST POMC MEN1
49 personality disorder 30.7 PRL NR3C1 CRH
50 primary hyperparathyroidism 30.7 PRL PRKAR1A POMC MEN1 GNAS

Comorbidity relations with Conn's Syndrome via Phenotypic Disease Network (PDN): (show all 17)


Acute Cystitis Anxiety
Bronchitis Chronic Pulmonary Heart Disease
Deficiency Anemia Esophagitis
Heart Disease Hypertension, Essential
Hypothyroidism Oral Candidiasis
Osteoporosis Postinflammatory Pulmonary Fibrosis
Premature Ovarian Failure 7 Respiratory Failure
Rheumatoid Arthritis Status Asthmaticus
Temporal Arteritis

Graphical network of the top 20 diseases related to Conn's Syndrome:



Diseases related to Conn's Syndrome

Symptoms & Phenotypes for Conn's Syndrome

Human phenotypes related to Conn's Syndrome:

58 31 (show all 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 thin skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000963
2 erectile abnormalities 58 31 hallmark (90%) Very frequent (99-80%) HP:0100639
3 growth delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001510
4 round face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000311
5 truncal obesity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001956
6 abnormal subcutaneous fat tissue distribution 58 31 hallmark (90%) Very frequent (99-80%) HP:0007552
7 depressivity 58 31 frequent (33%) Frequent (79-30%) HP:0000716
8 diabetes mellitus 58 31 frequent (33%) Frequent (79-30%) HP:0000819
9 hypertension 58 31 frequent (33%) Frequent (79-30%) HP:0000822
10 muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0001324
11 hypokalemia 58 31 frequent (33%) Frequent (79-30%) HP:0002900
12 fatigue 58 31 frequent (33%) Frequent (79-30%) HP:0012378
13 osteoporosis 58 31 frequent (33%) Frequent (79-30%) HP:0000939
14 irritability 58 31 frequent (33%) Frequent (79-30%) HP:0000737
15 generalized hirsutism 58 31 frequent (33%) Frequent (79-30%) HP:0002230
16 acne 58 31 frequent (33%) Frequent (79-30%) HP:0001061
17 anxiety 58 31 frequent (33%) Frequent (79-30%) HP:0000739
18 striae distensae 58 31 frequent (33%) Frequent (79-30%) HP:0001065
19 decreased fertility 58 31 frequent (33%) Frequent (79-30%) HP:0000144
20 purpura 58 31 frequent (33%) Frequent (79-30%) HP:0000979
21 nephrolithiasis 58 31 frequent (33%) Frequent (79-30%) HP:0000787
22 recurrent fractures 58 31 frequent (33%) Frequent (79-30%) HP:0002757
23 bruising susceptibility 58 31 frequent (33%) Frequent (79-30%) HP:0000978
24 sleep disturbance 58 31 occasional (7.5%) Occasional (29-5%) HP:0002360
25 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
26 reduced consciousness/confusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0004372
27 myopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003198
28 abdominal pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0002027
29 telangiectasia of the skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0100585
30 secondary amenorrhea 58 31 occasional (7.5%) Occasional (29-5%) HP:0000869
31 dilated cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001644
32 psychosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000709
33 hyponatremia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002902
34 hypercholesterolemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003124
35 hypercalcemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003072
36 abnormality of the gastric mucosa 58 31 occasional (7.5%) Occasional (29-5%) HP:0004295
37 neoplasm of the adrenal gland 58 31 occasional (7.5%) Occasional (29-5%) HP:0100631
38 increased circulating cortisol level 31 occasional (7.5%) HP:0003118
39 avascular necrosis 31 occasional (7.5%) HP:0010885
40 aseptic necrosis 58 Occasional (29-5%)
41 abnormality of immune system physiology 58 Frequent (79-30%)
42 hypercortisolism 58 Occasional (29-5%)
43 menstrual irregularities 58 Frequent (79-30%)

UMLS symptoms related to Conn's Syndrome:


agitation, cushingoid facies

GenomeRNAi Phenotypes related to Conn's Syndrome according to GeneCards Suite gene sharing:

26 (show all 23)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-111 10.29 CYP17A1 MEN1 NR3C1 PDE11A
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 10.29 CYP11B2 GIPR
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 10.29 CYP11B2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 10.29 NR3C1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-141 10.29 PDE11A
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 10.29 CYP17A1 MEN1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 10.29 GIPR
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 10.29 NR3C1 CYP11B2
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 10.29 CYP17A1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-187 10.29 PDE11A CYP11B2
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-195 10.29 GIPR
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 10.29 GIPR
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-55 10.29 MEN1
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-59 10.29 GIPR
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-66 10.29 PDE11A GIPR
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 10.29 CYP17A1
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-71 10.29 CYP11B2
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 10.29 CYP11B2
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-79 10.29 NR3C1 PDE11A
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-87 10.29 GIPR
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 10.29 CYP17A1
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-98 10.29 MEN1 NR3C1 CYP11B2 GIPR
23 Reduced mammosphere formation GR00396-S 9.36 AGTR1 CYP11B1 CYP21A2 GIPR GNAS HSD11B2

MGI Mouse Phenotypes related to Conn's Syndrome:

45 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.4 AGTR1 CACNA1H CRH CYP11B1 CYP17A1 CYP21A2
2 cardiovascular system MP:0005385 10.32 AGTR1 CACNA1H CYP11B1 CYP11B2 CYP17A1 GNAS
3 homeostasis/metabolism MP:0005376 10.31 AGTR1 CRH CYP11B1 CYP11B2 CYP17A1 GIPR
4 growth/size/body region MP:0005378 10.28 AGTR1 CACNA1H CRH CYP11B1 CYP11B2 CYP17A1
5 endocrine/exocrine gland MP:0005379 10.16 CRH CYP11B1 CYP11B2 GIPR GNAS MEN1
6 immune system MP:0005387 10.15 AGTR1 CRH CYP11B2 CYP21A2 GNAS MEN1
7 adipose tissue MP:0005375 10.11 AGTR1 CRH CYP11B2 CYP17A1 GNAS NR3C1
8 mortality/aging MP:0010768 10.07 AGTR1 CYP11B1 CYP17A1 CYP21A2 GNAS HSD11B2
9 liver/biliary system MP:0005370 9.92 CRH CYP11B2 GNAS MEN1 NR3C1 POMC
10 muscle MP:0005369 9.81 CACNA1H CYP11B1 GNAS HSD11B2 MEN1 NR3C1
11 nervous system MP:0003631 9.77 AGTR1 CACNA1H CRH CYP11B2 GNAS MEN1
12 renal/urinary system MP:0005367 9.32 AGTR1 CRH CYP11B1 CYP11B2 GNAS HSD11B2

Drugs & Therapeutics for Conn's Syndrome

Drugs for Conn's Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 293)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metyrapone Approved, Investigational Phase 4 54-36-4 4174
2
Bromocriptine Approved, Investigational Phase 4 25614-03-3 31101
3
Orlistat Approved, Investigational Phase 4 96829-58-2 3034010
4
Darunavir Approved Phase 4 635728-49-3, 206361-99-1 213039
5
Rilpivirine Approved Phase 4 500287-72-9
6
Cobicistat Approved Phase 4 1004316-88-4
7
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
8
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
9
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
10 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
11
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
12
Captopril Approved Phase 4 62571-86-2 44093
13
Losartan Approved Phase 4 114798-26-4 3961
14
Bisoprolol Approved Phase 4 66722-44-9 2405
15
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
16
Liraglutide Approved Phase 4 204656-20-2 44147092
17
Cyclophosphamide Approved, Investigational Phase 4 50-18-0, 6055-19-2 2907
18
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
19
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
20
Zinc Approved, Investigational Phase 4 7440-66-6 32051
21
Nitric Oxide Approved Phase 4 10102-43-9 145068
22
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
23
Chlorthalidone Approved Phase 4 77-36-1 2732
24
Methyltestosterone Approved Phase 4 58-18-4 6010
25
Testosterone Approved, Experimental, Investigational Phase 4 58-22-0, 481-30-1 6013 10204
26
Testosterone undecanoate Approved, Investigational Phase 4 5949-44-0
27
Testosterone enanthate Approved Phase 4 315-37-7 9416
28
Eplerenone Approved Phase 4 107724-20-9 150310 443872
29
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
30
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
31
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 6221 5280795
32
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
33
Lactitol Investigational Phase 4 585-86-4, 585-88-6 493591
34
Canrenone Investigational Phase 4 976-71-6 13789
35 Anti-Infective Agents Phase 4
36 Cytochrome P-450 Enzyme Inhibitors Phase 4
37
protease inhibitors Phase 4
38 HIV Protease Inhibitors Phase 4
39 Cytochrome P-450 CYP3A Inhibitors Phase 4
40 Antiviral Agents Phase 4
41 Lipid Regulating Agents Phase 4
42 Anti-Obesity Agents Phase 4
43 Psychotropic Drugs Phase 4
44 Appetite Depressants Phase 4
45 Antidepressive Agents Phase 4
46 Reverse Transcriptase Inhibitors Phase 4
47 Anti-HIV Agents Phase 4
48 Adrenocorticotropic Hormone Phase 4
49 glucocorticoids Phase 4
50 Corticotropin-Releasing Hormone Phase 4

Interventional clinical trials:

(show top 50) (show all 284)
# Name Status NCT ID Phase Drugs
1 Influence of Synacthen Infusion on the Results of Adrenal Venous Sampling in Patient With Primary Aldosteronism Unknown status NCT02127840 Phase 4 Synacthen infusion during adrenal venous sampling
2 The Therapeutic Effect of Bromocriptin in Patients With Primary Aldosteronism Unknown status NCT00451672 Phase 4 bromocriptine
3 Does Aldosterone Cause Hypertension by a Non-Renal Mechanism? Unknown status NCT00553722 Phase 4 Eplerenone;Placebo
4 The Effects of Cortisol Blockade on Nutritional Sympathetic Nervous System Responsiveness in Overweight and Obese Subjects With Metabolic Syndrome Unknown status NCT01620684 Phase 4 metyrapone;placebo
5 The Effect of Weight Loss With Orlistat or Sibutramine Administration , Hypocaloric Diet and Physical Exercise , on AMH Levels, in Women With Polycystic Ovary Syndrome Unknown status NCT01475019 Phase 4 Orlistat;Sibutramine
6 A Phase IV 48 Week, Open Label, Pilot Study of Darunavir Boosted by Cobicistat in Combination With Rilpivirine to Treat HIV+ Naïve Subjects (PREZENT) Unknown status NCT02404233 Phase 4 darunavir/cobicistat;rilpivirine
7 Glucocorticoid Receptor Blockade With Mifepristone in Patients With Mild Adrenal Hypercortisolism Completed NCT01990560 Phase 4 Mifepristone
8 Kallikrein-kinin (KKS) and Renin-angiotensin-aldosterone System (RAAS) in Primary Aldosteronism Completed NCT00155064 Phase 4 captopril, Losartan (drug)
9 Randomized Clinical Trial of Posterior Retroperitoneoscopic Adrenalectomy Versus Lateral Transperitoneal Laparoscopic Adrenalectomy With a Five-year Follow-up Completed NCT01959711 Phase 4
10 A Randomized, Double-blind, Placebo-controlled Study of the Effect of Mineralocorticoid Receptor Antagonists in Type 2 Diabetes Patients on Myocardial Function, Glucose and Fat Metabolism (The MIRAD-study) Completed NCT02809963 Phase 4 Eplerenone;Placebo
11 Adipokine Profile in Patients With Cushing's Disease on Pasireotide Treatment: Correlation With Disease Activity, Insulin Sensitivity and Secretion Parameters Completed NCT03080181 Phase 4 Pasireotide 0.6 MG/ML
12 A Multi-center, Randomized, Open-label, Phase IV Study to Investigate the Management of Pasireotide-induced Hyperglycemia With Incretin Based Therapy or Insulin in Adult Patients With Cushing's Disease or Acromegaly Completed NCT02060383 Phase 4 Pasireotide s.c.;Sitagliptin;Liraglutide;Insulin;Pasireotide LAR;Metformin
13 Effects of Eplerenone on Left Ventricular Hypertrophy in Patients With Resistant Hypertension and Obstructive Sleep Apnoea Completed NCT03186742 Phase 4 Eplerenone 50 mg Tab
14 The Effect of Corticotrophin-releasing Hormone (CRH) on Esophageal Motility in Healthy Volunteers Completed NCT02736734 Phase 4 CRH
15 Bisoprolol Versus Corticosteroid and Bisoprolol Combination for Prophylaxis Against Atrial Fibrillation After on Pump Coronary Artery Bypass Surgery Completed NCT03800264 Phase 4 Bisoprolol
16 Efficacy of Lower Dose Prednisolone in the Induction of Remission of Lupus Nephritis Completed NCT04146220 Phase 4 Prednisolone
17 The Effects of Vitamin D Supplementation on Transforming Growth Factor-beta1 and Vascular Endothelial Growth Factor in Vitamin D-Deficient Women With Polycystic Ovary Syndrome: A Randomized Placebo-Controlled Trial Completed NCT02460380 Phase 4 Vitamin D3
18 Acetaminophen for Mood and Memory Changes Associated With Prednisone Therapy Completed NCT00377364 Phase 4 Drug: Acetaminophen, Drug: Placebo
19 An Open Label, Multi-center Pasireotide Roll-over Protocol for Patients Who Have Completed a Previous Novartis-sponsored Pasireotide Study and Are Judged by the Investigator to Benefit From Continued Pasireotide Treatment Recruiting NCT01794793 Phase 4 Pasireotide;Cabergoline;Pasireotide
20 The Role of Aldosterone on Sympathetic Nerve Activity and Insulin Sensitivity Recruiting NCT02102243 Phase 4 DEFINITY® infusion;Human Recombinant Regular Insulin infusion;Dextrose infusion
21 Exploring the Effects of Corticosteroids on the Human Hippocampus Using Neurocognitive Testing and High Resolution Neuroimaging Recruiting NCT03896659 Phase 4 Hydrocortisone Oral;Placebo Oral Tablet
22 A Randomised Open Label, Blinded End Point Trial to Compare the Effects of Spironolactone With Chlortalidone on LV Mass in Stage 3 Chronic Kidney Disease (SPIRO-CKD) Active, not recruiting NCT02502981 Phase 4 Spironolactone;Chlortalidone
23 Muscle Strength and -Mass After Bariatric Surgery - a Possible Effect of Testosterone Replacement Therapy? Randomized, Placebo-controlled and Double-blinded Study Not yet recruiting NCT03721497 Phase 4 Testosterone Undecanoate
24 Clinical Efficacy of Potassium Canrenoate - Canrenone in Sinus Rhythm Restoration Among Patients With Atrial Fibrillation and Elevated Blood Pressure - a Pilot Randomized Controlled Trial. Not yet recruiting NCT03536806 Phase 4 Saline 0.9%;Canrenone
25 Effects of Aldosterone Antagonism on Insulin-mediated Microvascular Function in Subjects With the Metabolic Syndrome Terminated NCT01887119 Phase 4 Eplerenone
26 A Prospective, Controlled, Randomized, Multicentric Study: Correction of Metabolic Acidosis With Use of Bicarbonate in Chronic Renal Insufficiency (CKD3b-4) Unknown status NCT01640119 Phase 3
27 Compassionate Use Protocol for the Administration of CORLUX® (Mifepristone) in the Treatment of the Signs and Symptoms of Endogenous Cushing's Syndrome Completed NCT01371565 Phase 3 Mifepristone
28 An Open-label Study of the Efficacy and Safety of CORLUX (Mifepristone) in the Treatment of the Signs and Symptoms of Endogenous Cushing's Syndrome Completed NCT00569582 Phase 3 mifepristone
29 An Open Label Extension Study of the Efficacy and Safety of CORLUX® (Mifepristone) in the Treatment of the Signs and Symptoms of Endogenous Cushing's Syndrome Completed NCT00936741 Phase 3 mifepristone
30 Towards Cost-effective Management of Patients With Hypertension Due to Primary Aldosteronism: Adrenal Vein Sampling or Ct-scan? Completed NCT01096654 Phase 3
31 An Open-label, Prospective, Controlled Clinical Trial on Effects and Safety of Adrenal Artery Ablation (Triple A) for Primary Aldosteronism Completed NCT03398785 Phase 3
32 A Randomized, Double-blind, Multicenter, Phase III Study to Evaluate the Efficacy and Safety of Pasireotide LAR in Patients With Cushing's Disease Completed NCT01374906 Phase 3 pasireotide LAR;SOM230 LAR 30 mg;SOM230 LAR 10 mg
33 An Open Label Study to Assess the Safety and Efficacy of COR-003 (Levoketoconazole) in the Treatment of Endogenous Cushing's Syndrome Completed NCT01838551 Phase 3 COR-003
34 The Role of Mineralocorticoid Receptors in Vascular Function Completed NCT00759525 Phase 2, Phase 3 Glycyrrhetic Acid;Placebo
35 A Randomized, Double-blind Study to Assess the Safety and Efficacy of Different Dose Levels of Pasireotide (SOM230) Subcutaneous (sc) Over a 6 Month Treatment Period in Patients With de Novo, Persistent or Recurrent Cushing's Disease Completed NCT00434148 Phase 3 Pasireotide
36 An Open-label, Multi-center, Expanded Access Study of Pasireotide s.c. in Patients With Cushing's Disease (Seascape). Completed NCT01582061 Phase 3 Pasireotide sub-cutaneous
37 Study of Cabergoline in Treatment of Corticotroph Pituitary Tumor Completed NCT00889525 Phase 3 Cabergoline
38 Effects of IL-1 Beta on the Hypothalamic-pituitary-adrenal (HPA) Axis in Obese Persons - the CortIL-Study Completed NCT02227420 Phase 3 Anakinra
39 Effectiveness of Eplerenone to Improve Target Organ Damage in Patients With Resistant Arterial Hypertension Completed NCT00138944 Phase 3 placebo;eplerenone
40 Induction of Ovulation With Raloxifene or Clomiphene Citrate in Polycystic Ovarian Syndrome Completed NCT00427700 Phase 3 clomiphene citrate;raloxifene
41 Prevention of Metabolic Complications of Glucocorticoid Excess - a Randomised, Doubleblind,Placebo Controlled Study Completed NCT01319994 Phase 2, Phase 3 Metformin;Placebo
42 Pilot Study of Natriuretic Versus Standard Doses of Mineralocorticoid Receptor Antagonists in Heart Failure and Loop Diuretic Resistance in Outpatients Completed NCT02585843 Phase 2, Phase 3 Spironolactone 100mg;Spironolactone 25mg
43 Prospective and Open Label Study With Blind End Point Evaluation on the Effect of Mineralocorticoid Receptor Inhibition on Endothelial Function of the Micro- and Macrovasculature in Patients With Metabolic Syndrome Completed NCT01319344 Phase 3 Eplerenone
44 An Open-label Extension Study of Levoketoconazole (2S,4R-ketoconazole) in the Treatment of Endogenous Cushing's Syndrome Recruiting NCT03621280 Phase 3 Levoketoconazole
45 A Double-blind, Placebo-Controlled, Randomized Withdrawal Following Open Label Therapy Study to Assess the Safety and Efficacy of Levoketoconazole (2S, 4R-ketoconazole) in the Treatment of Endogenous Cushing's Syndrome Recruiting NCT03277690 Phase 3 Levoketoconazole;Placebo
46 Adrenal Artery Ablation for Primary Aldosteronism:A Randomized, Parallel, Active-controlled Clinical Trial to Evaluate the Efficacy and Safety of Adrenal Artery Ablation(AAA)in the Treatment of Primary Aldosteronism Recruiting NCT03653845 Phase 3 Sequenced antihypertensvie drugs with titrated dosage
47 Glucocorticoid Receptor Antagonism in the Treatment of Cushing Syndrome (GRACE): A Phase 3, Double-Blind, Placebo-Controlled, Randomized-Withdrawal Study of the Efficacy and Safety of Relacorilant Recruiting NCT03697109 Phase 3 Relacorilant
48 Safety and Efficacy of Prednisolone in Adrenal Insufficiency Disease (PRED-AID Study) Recruiting NCT03936517 Phase 3 Prednisolone;Hydrocortisone
49 Efficacy and Safety of Adrenal Artery Ablation(AAA)in the Treatment of Uncontrolled Hypertension: A Randomized, Parallel, Active-controlled Clinical Trial Recruiting NCT03660397 Phase 3 Traditional triple antihypertensive treatment
50 Ga-68-DOTATOC -PET in the Management of Pituitary Tumours Recruiting NCT02419664 Phase 3

Search NIH Clinical Center for Conn's Syndrome

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Aminoglutethimide
Fludrocortisone
fluorocortisol acetate
Mitotane
pasireotide
Spironolactone
SPIRONOLACTONE PWDR

Cochrane evidence based reviews: cushing syndrome

Genetic Tests for Conn's Syndrome

Genetic tests related to Conn's Syndrome:

# Genetic test Affiliating Genes
1 Cushing's Syndrome 29 GNAS
2 Hypercortisolism 29

Anatomical Context for Conn's Syndrome

MalaCards organs/tissues related to Conn's Syndrome:

40
Pituitary, Adrenal Gland, Testes, Kidney, Heart, Skin, Cortex

Publications for Conn's Syndrome

Articles related to Conn's Syndrome:

(show top 50) (show all 2714)
# Title Authors PMID Year
1
Pediatric Cushing Syndrome; an Overview. 61 42
31763802 2019
2
Experience of an endocrine surgeon in laparoscopic transperitoneal adrenalectomy. 61 42
31510984 2019
3
Investigating cortisol excess or deficiency: a practical approach. 42
31771937 2019
4
Familial micronodular adrenocortical disease, Cushing syndrome, and mutations of the gene encoding phosphodiesterase 11A4 (PDE11A). 54 61
20351491 2010
5
A novel PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease and the Carney complex. 54 61
19833579 2010
6
[The postanalytical stage of clinical biochemistry. Pathogenetic bases of the classification of arterial hypertension]. 54 61
20401992 2010
7
Cushing syndrome in a young woman due to primary pigmented nodular adrenal disease. 54 61
19703806 2010
8
[Phylogenetic, pathogenetic fundamentals and a role of clinical biochemistry in classification of arterial hypertension]. 54 61
20050074 2009
9
Mineralocorticoid and glucocorticoid receptors stimulate epithelial sodium channel activity in a mouse model of Cushing syndrome. 54 61
19635986 2009
10
New genes and/or molecular pathways associated with adrenal hyperplasias and related adrenocortical tumors. 54 61
19063937 2009
11
Hormonal and metabolic evaluation of adrenal incidentalomas. 54 61
19728761 2009
12
[Conn's syndrome]. 54 61
19099278 2009
13
Paraneoplastic Cushing syndrome because of corticotrophin-releasing hormone-secreting Wilms' tumor. 54 61
18970948 2008
14
Vitamin D-mediated hypercalcemia and Cushing syndrome as manifestations of malignant pleural mesothelioma. 54 61
19095601 2008
15
A cAMP-specific phosphodiesterase (PDE8B) that is mutated in adrenal hyperplasia is expressed widely in human and mouse tissues: a novel PDE8B isoform in human adrenal cortex. 54 61
18431404 2008
16
Corticotropin-independent cushing syndrome in a child with an ovarian tumor misdiagnosed as nonclassic congenital adrenal hyperplasia. 54 61
18996816 2008
17
Detection of somatic beta-catenin mutations in primary pigmented nodular adrenocortical disease (PPNAD). 54 61
18419788 2008
18
Diagnosis by serendipity: Cushing syndrome attributable to cortisol-producing adrenal adenoma as the initial manifestation of multiple endocrine neoplasia type 1 due to a rare splicing site MEN1 gene mutation. 54 61
18753104 2008
19
Operative management of Cushing syndrome secondary to micronodular adrenal hyperplasia. 54 61
18549891 2008
20
Phosphodiesterase 11A (PDE11A) and genetic predisposition to adrenocortical tumors. 54 61
18559625 2008
21
[Inferior petrosal sinus catheterization: technical aspects]. 54 61
18604383 2008
22
Evaluation of proopiomelanocortin mRNA in the peripheral blood from patients with Cushing's syndrome of different origin. 54 61
18075284 2007
23
[Pseudo-Cushing states]. 54 61
18209868 2007
24
[Modern pharmacological aspects of hyperaldosteronism therapy]. 54 61
16823578 2006
25
A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia. 54 61
16767104 2006
26
A PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease in 12 kindreds. 54 61
16464939 2006
27
[Giant bilateral adrenal myelolipoma associated with congenital adrenal hyperplasia]. 54 61
16485216 2006
28
[Adrenal myelolipoma]. 54 61
15859562 2005
29
Safety of medications and hormones used in pediatric endocrinology: adrenal. 54 61
16456492 2004
30
Cyclical Cushing syndrome presenting in infancy: an early form of primary pigmented nodular adrenocortical disease, or a new entity? 54 61
15240590 2004
31
Protein kinase A and its role in human neoplasia: the Carney complex paradigm. 54 61
15163302 2004
32
Stress and the female reproductive system. 54 61
15288182 2004
33
Human tumors associated with Carney complex and germline PRKAR1A mutations: a protein kinase A disease! 54 61
12829237 2003
34
Role of ketoconazole treatment in urinary-free cortisol-to-cortisone and tetrahydrocortisol-to-tetrahydrocortisone ratios in nonectopic Cushing's syndrome. 54 61
12450320 2002
35
Ratio of serum aldosterone to plasma renin concentration in essential hypertension and primary aldosteronism. 54 61
11928071 2002
36
Expression profiles of COUP-TF, DAX-1, and SF-1 in the human adrenal gland and adrenocortical tumors: possible implications in steroidogenesis. 54 61
11592817 2001
37
Expression of adrenocorticotropin receptor gene in adrenocortical adenomas from patients with Cushing syndrome: possible contribution for the autonomous production of cortisol. 54 61
11420487 2001
38
Polymorphic differences from normal in the aldosterone synthase gene (CYP11B2) in patients with primary hyperaldosteronism and adrenal tumour (Conn's syndrome). 54 61
11422106 2001
39
Adrenocorticotropin-independent macronodular adrenal hyperplasia: an uncommon cause of primary adrenal hypercortisolism. 54 61
10966714 2000
40
[Pseudo-Cushing syndrome. Physiopathologic aspects and differential diagnosis]. 54 61
11189791 2000
41
[Cushing syndrome. The diagnostic and therapeutic challenges]. 54 61
10815323 2000
42
Cortisolemic indices predict severe infections in Cushing syndrome due to ectopic production of adrenocorticotropin. 54 61
10634361 2000
43
Adrenocortical tumors: recent advances in basic concepts and clinical management. 54 61
10357696 1999
44
Interactions between the hypothalamic-pituitary-adrenal axis and the female reproductive system: clinical implications. 54 61
9696732 1998
45
Alterations of RET oncogene in human adrenal tumors. 54 61
9703361 1998
46
Corticotropin-independent macronodular adrenal hyperplasia: a clinicopathologic correlation. 54 61
9605918 1998
47
Bilateral sampling of the internal jugular vein to distinguish between mechanisms of adrenocorticotropic hormone-dependent Cushing syndrome. 54 61
9424979 1998
48
[Separation and purefied of calf osteocalcin, set up radioimmunoassay for osteocalcin]. 54 61
10453563 1997
49
Primary hyperaldosteronism. 54 61
15251493 1997
50
[Food-dependent Cushing syndrome: a new entity of organic hypercorticism]. 54 61
8758532 1996

Variations for Conn's Syndrome

ClinVar genetic disease variations for Conn's Syndrome:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CACNA1H NM_021098.3(CACNA1H):c.4645A>G (p.Met1549Val)SNV Pathogenic 189779 rs786205050 16:1262024-1262024 16:1212024-1212024
2 GNAS NM_001077488.4(GNAS):c.604C>A (p.Arg202Ser)SNV Pathogenic 15937 rs11554273 20:57484420-57484420 20:58909365-58909365
3 GNAS NM_001077488.4(GNAS):c.85C>T (p.Gln29Ter)SNV Pathogenic 374113 rs1057518907 20:57466866-57466866 20:58891811-58891811
4 GNAS NM_001077488.4(GNAS):c.1A>G (p.Met1Val)SNV Pathogenic/Likely pathogenic 15927 rs137854530 20:57466782-57466782 20:58891727-58891727
5 GNAS NM_001077488.4(GNAS):c.604C>T (p.Arg202Cys)SNV Pathogenic/Likely pathogenic 15933 rs11554273 20:57484420-57484420 20:58909365-58909365
6 GNAS NM_001077488.4(GNAS):c.605G>A (p.Arg202His)SNV Pathogenic/Likely pathogenic 15934 rs121913495 20:57484421-57484421 20:58909366-58909366
7 GNAS NM_080425.3(GNAS):c.1200C>A (p.Ala400=)SNV Uncertain significance 417934 rs908810796 20:57429520-57429520 20:58854465-58854465
8 GNAS NM_080425.3(GNAS):c.1455C>A (p.Ala485=)SNV Benign 417936 rs55890501 20:57429775-57429775 20:58854720-58854720

Cosmic variations for Conn's Syndrome:

9 (show top 50) (show all 1452)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM87955161 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.305C>T p.T102I 17:7676064-7676064 21
2 COSM87905712 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.775G>T p.D259Y 17:7674188-7674188 21
3 COSM87900180 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.736A>G p.M246V 17:7674227-7674227 21
4 COSM87901804 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.587G>T p.R196L 17:7674944-7674944 21
5 COSM86654810 RB1 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.2094G>T p.R698S 13:48459821-48459821 21
6 COSM86630707 RB1 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.1960G>A p.V654M 13:48456349-48456349 21
7 COSM98837139 PRKAR1A adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.664A>G p.K222E 17:68525868-68525868 21
8 COSM98836801 PRKAR1A adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.892-1G>A p.? 17:68529919-68529919 21
9 COSM89095988 PRKACA adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.617T>G p.L206R 19:14097604-14097604 21
10 COSM89097069 PRKACA adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.262C>G p.H88D 19:14102890-14102890 21
11 COSM135349779 PLCG2 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.615C>A p.F205L 16:81870902-81870902 21
12 COSM88525815 NUP93 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.2172G>T p.Q724H 16:56839556-56839556 21
13 COSM97107359 NRAS adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.182A>G p.Q61R 1:114713908-114713908 21
14 COSM93700036 NF1 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.3265G>T p.E1089* 17:31232140-31232140 21
15 COSM92076463 MEN1 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.1669A>T p.T557S 11:64804513-64804513 21
16 COSM92077345 MEN1 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.325G>T p.E109* 11:64809785-64809785 21
17 COSM129144084 KMT2A adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.8417C>A p.S2806* 11:118504309-118504309 21
18 COSM130828655 KCNJ5 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.451G>A p.G151R 11:128911724-128911724 21
19 COSM130828673 KCNJ5 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.503T>G p.L168R 11:128911776-128911776 21
20 COSM130828728 KCNJ5 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.451G>C p.G151R 11:128911724-128911724 21
21 COSM130829678 KCNJ5 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.472A>G p.T158A 11:128911745-128911745 21
22 COSM130830317 KCNJ5 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.433G>C p.E145Q 11:128911706-128911706 21
23 COSM130830947 KCNJ5 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.343C>T p.R115W 11:128911616-128911616 21
24 COSM130834933 KCNJ5 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.461T>G p.F154C 11:128911734-128911734 21
25 COSM130830046 KCNJ5 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.737A>G p.E246G 11:128912010-128912010 21
26 COSM130830249 KCNJ5 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.376T>C p.W126R 11:128911649-128911649 21
27 COSM130835720 KCNJ5 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.439G>C p.E147Q 11:128911712-128911712 21
28 COSM151686106 IKZF1 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.1219C>A p.Q407K 7:50400286-50400286 21
29 COSM93760887 GNAS adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.2531G>A p.R844H 20:58909366-58909366 21
30 COSM93760866 GNAS adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.2530C>T p.R844C 20:58909365-58909365 21
31 COSM93761140 GNAS adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.2530C>A p.R844S 20:58909365-58909365 21
32 COSM93769401 GNAS adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.2608C>G p.Q870E 20:58909540-58909540 21
33 COSM150913545 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.133T>C p.S45P 3:41224645-41224645 21
34 COSM150913542 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.134C>T p.S45F 3:41224646-41224646 21
35 COSM150913536 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.121A>G p.T41A 3:41224633-41224633 21
36 COSM150913593 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.95A>G p.D32G 3:41224607-41224607 21
37 COSM150913552 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.100G>A p.G34R 3:41224612-41224612 21
38 COSM150913745 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.134C>G p.S45C 3:41224646-41224646 21
39 COSM150924907 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.137T>C p.L46P 3:41224649-41224649 21
40 COSM150913731 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.110C>G p.S37C 3:41224622-41224622 21
41 COSM150913524 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.98C>G p.S33C 3:41224610-41224610 21
42 COSM150913963 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.107A>C p.H36P 3:41224619-41224619 21
43 COSM150914950 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.130C>G p.P44A 3:41224642-41224642 21
44 COSM150915382 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.101G>C p.G34A 3:41224613-41224613 21
45 COSM150914444 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.134C>A p.S45Y 3:41224646-41224646 21
46 COSM93958426 CDC73 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.790G>T p.A264S 1:193147927-193147927 21
47 COSM88367327 CACNA1D adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.2282A>G p.Y761C 3:53730442-53730442 21
48 COSM88347166 CACNA1D adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.4112C>G p.P1371R 3:53772840-53772840 21
49 COSM88344954 CACNA1D adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.1117-600G>C p.? 3:53673113-53673113 21
50 COSM88345969 CACNA1D adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.2299T>C p.F767L 3:53730459-53730459 21

Expression for Conn's Syndrome

Search GEO for disease gene expression data for Conn's Syndrome.

Pathways for Conn's Syndrome

Pathways related to Conn's Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Calcium signaling pathway hsa04020
2 Cushing syndrome hsa04934

Pathways related to Conn's Syndrome according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.41 SST PRL POMC NR3C1 GNAS GIPR
2
Show member pathways
12.8 PRKAR1A POMC KCNJ5 GNAS CRH CACNA1H
3
Show member pathways
12.17 POMC PDE11A MEN1 KCNJ5 GNAS CYP21A2
4 12.13 SST POMC GNAS GIPR
5 11.93 POMC PDE11A GNAS GIPR CRH
6
Show member pathways
11.61 REN NR3C2 CYP11B2 AGTR1
7 11.6 PRL POMC NR3C1
8 11.6 POMC GNAS CYP21A2 CYP11B1 CRH CACNA1H
9 11.49 REN GNAS AGTR1
10
Show member pathways
11.47 HSD11B2 CYP21A2 CYP17A1 CYP11B2 CYP11B1
11
Show member pathways
11.38 POMC HSD11B2 CYP21A2 CYP17A1 CYP11B2 CYP11B1
12
Show member pathways
10.97 CYP21A2 CYP17A1 CYP11B2 CYP11B1
13 10.28 POMC CRH

GO Terms for Conn's Syndrome

Biological processes related to Conn's Syndrome according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.24 PRL POMC PDE11A NR3C2 NR3C1 GNAS
2 G protein-coupled receptor signaling pathway GO:0007186 10.14 SST POMC PDE11A GNAS GIPR CRH
3 response to drug GO:0042493 9.93 SST REN HSD11B2 GNAS CRH
4 steroid metabolic process GO:0008202 9.83 CYP21A2 CYP17A1 CYP11B2 CRH
5 regulation of blood pressure GO:0008217 9.77 REN POMC CYP11B1
6 cellular response to hormone stimulus GO:0032870 9.75 CYP11B2 CYP11B1 CACNA1H
7 female pregnancy GO:0007565 9.73 PRL HSD11B2 GNAS CRH
8 renal water homeostasis GO:0003091 9.69 PRKAR1A GNAS CYP11B2
9 sterol metabolic process GO:0016125 9.65 CYP21A2 CYP11B2 CYP11B1
10 steroid biosynthetic process GO:0006694 9.62 CYP21A2 CYP17A1 CYP11B2 CYP11B1
11 C21-steroid hormone biosynthetic process GO:0006700 9.61 CYP11B2 CYP11B1
12 cellular response to peptide hormone stimulus GO:0071375 9.58 MEN1 CYP11B2 CYP11B1
13 hormone-mediated apoptotic signaling pathway GO:0008628 9.57 SST CRH
14 mineralocorticoid biosynthetic process GO:0006705 9.56 CYP21A2 CYP11B2
15 renin-angiotensin regulation of aldosterone production GO:0002018 9.55 REN AGTR1
16 positive regulation of cAMP-mediated signaling GO:0043950 9.54 GNAS GIPR CRH
17 cortisol metabolic process GO:0034650 9.49 CYP11B2 CYP11B1
18 regulation of blood volume by renal aldosterone GO:0002017 9.46 HSD11B2 CYP11B2
19 cellular response to potassium ion GO:0035865 9.43 CYP11B2 CYP11B1 CACNA1H
20 cortisol biosynthetic process GO:0034651 9.33 CYP11B2 CYP11B1 CACNA1H
21 aldosterone biosynthetic process GO:0032342 9.13 CYP11B2 CYP11B1 CACNA1H
22 glucocorticoid biosynthetic process GO:0006704 9.1 HSD11B2 CYP21A2 CYP17A1 CYP11B2 CYP11B1 CRH

Molecular functions related to Conn's Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.88 HSD11B2 CYP21A2 CYP17A1 CYP11B2 CYP11B1
2 heme binding GO:0020037 9.71 CYP21A2 CYP17A1 CYP11B2 CYP11B1
3 iron ion binding GO:0005506 9.67 CYP21A2 CYP17A1 CYP11B2 CYP11B1
4 hormone activity GO:0005179 9.62 SST PRL POMC CRH
5 insulin-like growth factor receptor binding GO:0005159 9.46 REN GNAS
6 corticotropin-releasing hormone receptor 1 binding GO:0051430 9.43 GNAS CRH
7 corticosterone 18-monooxygenase activity GO:0047783 9.26 CYP11B2 CYP11B1
8 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.26 CYP21A2 CYP17A1 CYP11B2 CYP11B1
9 steroid 11-beta-monooxygenase activity GO:0004507 9.16 CYP11B2 CYP11B1
10 steroid binding GO:0005496 8.92 NR3C2 NR3C1 HSD11B2 CYP21A2

Sources for Conn's Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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