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MCID: CNN003
MIFTS: 77

Conn's Syndrome

Categories: Cancer diseases, Endocrine diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Conn's Syndrome

About this section

MalaCards integrated aliases for Conn's Syndrome:

Name: Conn's Syndrome 12 73 15
Cushing Syndrome 12 20 58 36 29 54 6 44 17 70 32
Hyperaldosteronism 12 73 54 6 44 39 17 70 32
Primary Hyperaldosteronism 12 20 6 15 32
Primary Aldosteronism 12 73 20 36 15
Cushing's Syndrome 12 73 20 53 42
Hypercortisolism 20 53 58 29 54
Conn Syndrome 12 20 70
Acth Syndrome, Ectopic 17 70
Ectopic Acth Syndrome 20 32
Hyperadrenocorticism 20 58
Adrenal Hyperfunction Resulting from Pituitary Acth Excess 20
Ectopic Adrenocorticotropic Hormone Syndrome 20
Nodular Primary Adrenocortical Dysplasia 20
Adrenal Gland Hyperfunction 70
Adrenal Cushing's Syndrome 70
Adrenal Cortical Adenoma 70
Mineralocorticoid Excess 20
Adrenal Cortex Adenoma 20
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:

MalaCards categories:
Global: Rare diseases Cancer diseases
Anatomical: Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare endocrine diseases


Sources

Summaries for Conn's Syndrome

About this section
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-independent cushing syndrome and familial hyperaldosteronism, and has symptoms including 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 Bromocriptine and Captopril have been mentioned in the context of this disorder. Affiliated tissues include adrenal gland, pituitary and cortex, and related phenotypes are growth delay and erectile dysfunction

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

GARD : 20 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 : 73 Primary aldosteronism (PA), also known as primary hyperaldosteronism or Conn's syndrome, refers to the... more...

Sources

Related Diseases for Conn's Syndrome

About this section

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

(show top 50) (show all 1089)
# Related Disease Score Top Affiliating Genes
1 acth-independent cushing syndrome 32.8 PRKAR1A PDE11A GNAS
2 familial hyperaldosteronism 32.4 MEN1 KCNJ5 CYP11B2 CYP11B1 CACNA1H AGTR1
3 aldosterone-producing adenoma 32.4 KCNJ5 CYP21A2 CYP11B2 AGTR1
4 acth-secreting pituitary adenoma 32.4 SST PRL PRKAR1A POMC NR3C1 MEN1
5 ectopic cushing syndrome 32.1 SST PRL POMC NR3C1 CRH
6 acth-independent macronodular adrenal hyperplasia 32.0 PRKAR1A POMC PDE11A GNAS GIPR CRH
7 adrenal cortical adenoma 32.0 REN PRKAR1A POMC MEN1 GIPR CYP21A2
8 nelson syndrome 31.3 SST PRL POMC NR3C1 CRH
9 hypokalemia 31.2 REN POMC NR3C2 NR3C1 KCNJ5 HSD11B2
10 adrenal gland disease 31.1 SST REN PRL PRKAR1A POMC PDE11A
11 carcinoid tumors, intestinal 31.1 SST MEN1
12 pituitary-dependent cushing's disease 31.1 SST PRL POMC NR3C1 CRH
13 adenoma 31.0 SST REN PRL PRKAR1A POMC MEN1
14 multiple endocrine neoplasia 31.0 SST PRKAR1A POMC MEN1 GNAS
15 pituitary tumors 31.0 SST PRL POMC MEN1 GNAS
16 chronic kidney disease 31.0 REN POMC NR3C2 HSD11B2 GNAS CYP11B2
17 bronchial adenomas/carcinoids childhood 31.0 SST POMC
18 chromophobe adenoma 30.9 PRL POMC
19 amenorrhea 30.9 PRL POMC CYP17A1 CRH
20 congestive heart failure 30.9 REN NR3C2 CYP11B2 AGTR1
21 acute adrenal insufficiency 30.9 REN POMC CYP21A2
22 gynecomastia 30.9 PRL POMC NR3C2 CYP21A2
23 hypoaldosteronism 30.9 REN POMC CYP11B2
24 thyroid gland medullary carcinoma 30.9 SST POMC MEN1
25 depression 30.8 PRL NR3C1 CRH
26 anxiety 30.8 PRL POMC NR3C1 CRH
27 thyroid carcinoma, familial medullary 30.8 SST PRKAR1A POMC MEN1
28 adrenal adenoma 30.8 REN PRKAR1A POMC NR3C2 MEN1 KCNJ5
29 multiple endocrine neoplasia, type i 30.7 SST PRL PRKAR1A POMC MEN1 GNAS
30 pheochromocytoma 30.7 SST REN PRL POMC MEN1 CRH
31 hyperthyroidism 30.7 SST PRL POMC GNAS
32 benign essential hypertension 30.7 REN PRL POMC
33 renal hypertension 30.7 REN NR3C2 AGTR1
34 liddle syndrome 1 30.7 REN NR3C2 NR3C1 HSD11B2 CYP11B2 CYP11B1
35 hypertensive heart disease 30.7 REN NR3C2 CYP11B2 AGTR1
36 diabetes insipidus 30.6 REN PRL POMC CRH
37 familial hypertension 30.6 REN NR3C2 HSD11B2 CYP11B2 AGTR1
38 adrenal cortical carcinoma 30.6 PRKAR1A POMC HSD11B2 GNAS CYP21A2 CYP17A1
39 fibrous dysplasia 30.6 SST PRL GNAS
40 atypical depressive disorder 30.6 POMC NR3C1 CRH
41 corticosteroid-binding globulin deficiency 30.6 POMC NR3C1 HSD11B2
42 hypoadrenocorticism, familial 30.6 REN POMC CYP21A2 CYP17A1 CYP11B2 CRH
43 personality disorder 30.6 PRL NR3C1 CRH
44 gastrinoma 30.5 SST POMC MEN1
45 apparent mineralocorticoid excess 30.5 REN NR3C2 NR3C1 HSD11B2 CYP11B2 CYP11B1
46 leydig cell tumor 30.5 PRL GNAS CYP21A2 CYP17A1
47 hypopituitarism 30.5 PRL POMC CRH
48 diabetes mellitus 30.5 SST REN PRL POMC NR3C2 NR3C1
49 ileus 30.5 SST POMC CRH
50 anovulation 30.5 PRL CYP21A2 CRH

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
Sources

Symptoms & Phenotypes for Conn's Syndrome

About this section

Human phenotypes related to Conn's Syndrome:

31 (show all 40)
# Description HPO Frequency HPO Source Accession
1 growth delay 31 hallmark (90%) HP:0001510
2 erectile dysfunction 31 hallmark (90%) HP:0100639
3 round face 31 hallmark (90%) HP:0000311
4 truncal obesity 31 hallmark (90%) HP:0001956
5 abnormal subcutaneous fat tissue distribution 31 hallmark (90%) HP:0007552
6 thin skin 31 hallmark (90%) HP:0000963
7 depressivity 31 frequent (33%) HP:0000716
8 diabetes mellitus 31 frequent (33%) HP:0000819
9 hypertension 31 frequent (33%) HP:0000822
10 muscle weakness 31 frequent (33%) HP:0001324
11 hypokalemia 31 frequent (33%) HP:0002900
12 fatigue 31 frequent (33%) HP:0012378
13 acne 31 frequent (33%) HP:0001061
14 osteoporosis 31 frequent (33%) HP:0000939
15 anxiety 31 frequent (33%) HP:0000739
16 irritability 31 frequent (33%) HP:0000737
17 striae distensae 31 frequent (33%) HP:0001065
18 decreased fertility 31 frequent (33%) HP:0000144
19 nephrolithiasis 31 frequent (33%) HP:0000787
20 recurrent fractures 31 frequent (33%) HP:0002757
21 generalized hirsutism 31 frequent (33%) HP:0002230
22 purpura 31 frequent (33%) HP:0000979
23 bruising susceptibility 31 frequent (33%) HP:0000978
24 irregular menstruation 31 frequent (33%) HP:0000858
25 sleep disturbance 31 occasional (7.5%) HP:0002360
26 cataract 31 occasional (7.5%) HP:0000518
27 avascular necrosis 31 occasional (7.5%) HP:0010885
28 reduced consciousness/confusion 31 occasional (7.5%) HP:0004372
29 myopathy 31 occasional (7.5%) HP:0003198
30 secondary amenorrhea 31 occasional (7.5%) HP:0000869
31 dilated cardiomyopathy 31 occasional (7.5%) HP:0001644
32 abdominal pain 31 occasional (7.5%) HP:0002027
33 telangiectasia of the skin 31 occasional (7.5%) HP:0100585
34 hyponatremia 31 occasional (7.5%) HP:0002902
35 hypercholesterolemia 31 occasional (7.5%) HP:0003124
36 hypercalcemia 31 occasional (7.5%) HP:0003072
37 abnormality of the gastric mucosa 31 occasional (7.5%) HP:0004295
38 psychosis 31 occasional (7.5%) HP:0000709
39 neoplasm of the adrenal gland 31 occasional (7.5%) HP:0100631
40 increased circulating cortisol level 31 occasional (7.5%) HP:0003118

UMLS symptoms related to Conn's Syndrome:


cushingoid facies

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

26 (show top 50) (show all 52)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 10.43 CYP17A1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.43 GIPR
3 Increased shRNA abundance (Z-score > 2) GR00366-A-111 10.43 CYP17A1 MEN1 NR3C1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-113 10.43 GIPR
5 Increased shRNA abundance (Z-score > 2) GR00366-A-114 10.43 GIPR
6 Increased shRNA abundance (Z-score > 2) GR00366-A-119 10.43 CYP11B2 GIPR
7 Increased shRNA abundance (Z-score > 2) GR00366-A-121 10.43 GIPR
8 Increased shRNA abundance (Z-score > 2) GR00366-A-125 10.43 CYP11B2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-128 10.43 MEN1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-14 10.43 NR3C1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-153 10.43 CYP17A1 MEN1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-157 10.43 NR3C1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.43 GIPR
14 Increased shRNA abundance (Z-score > 2) GR00366-A-179 10.43 GIPR
15 Increased shRNA abundance (Z-score > 2) GR00366-A-18 10.43 NR3C1 CYP11B2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-181 10.43 CYP17A1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-186 10.43 CYP11B2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-187 10.43 PDE11A CYP11B2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-195 10.43 GIPR
20 Increased shRNA abundance (Z-score > 2) GR00366-A-199 10.43 GIPR
21 Increased shRNA abundance (Z-score > 2) GR00366-A-21 10.43 NR3C1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.43 NR3C1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-216 10.43 GIPR
24 Increased shRNA abundance (Z-score > 2) GR00366-A-29 10.43 GIPR
25 Increased shRNA abundance (Z-score > 2) GR00366-A-30 10.43 GIPR
26 Increased shRNA abundance (Z-score > 2) GR00366-A-32 10.43 PDE11A
27 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.43 GIPR
28 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.43 MEN1
29 Increased shRNA abundance (Z-score > 2) GR00366-A-51 10.43 GIPR
30 Increased shRNA abundance (Z-score > 2) GR00366-A-59 10.43 GIPR
31 Increased shRNA abundance (Z-score > 2) GR00366-A-66 10.43 GIPR
32 Increased shRNA abundance (Z-score > 2) GR00366-A-68 10.43 CYP17A1
33 Increased shRNA abundance (Z-score > 2) GR00366-A-71 10.43 CYP11B2
34 Increased shRNA abundance (Z-score > 2) GR00366-A-76 10.43 CYP17A1
35 Increased shRNA abundance (Z-score > 2) GR00366-A-79 10.43 NR3C1 PDE11A
36 Increased shRNA abundance (Z-score > 2) GR00366-A-81 10.43 CYP11B2
37 Increased shRNA abundance (Z-score > 2) GR00366-A-82 10.43 CYP11B2
38 Increased shRNA abundance (Z-score > 2) GR00366-A-87 10.43 GIPR
39 Increased shRNA abundance (Z-score > 2) GR00366-A-91 10.43 CYP17A1
40 Increased shRNA abundance (Z-score > 2) GR00366-A-98 10.43 MEN1 GIPR
41 Decreased viability GR00106-A-0 10.16 MEN1 NR3C1
42 Decreased viability GR00221-A-1 10.16 PRKAR1A
43 Decreased viability GR00221-A-2 10.16 PRKAR1A
44 Decreased viability GR00221-A-3 10.16 PRKAR1A
45 Decreased viability GR00221-A-4 10.16 PRKAR1A
46 Decreased viability GR00240-S-1 10.16 CYP11B1 SST
47 Decreased viability GR00249-S 10.16 CYP17A1 HSD11B2 PDE11A
48 Decreased viability GR00381-A-1 10.16 GNAS HSD11B2 KCNJ5
49 Decreased viability GR00381-A-3 10.16 KCNJ5
50 Decreased viability GR00386-A-1 10.16 GNAS NR3C2 POMC

MGI Mouse Phenotypes related to Conn's Syndrome:

46 (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 growth/size/body region MP:0005378 10.31 AGTR1 CACNA1H CRH CYP11B1 CYP11B2 CYP17A1
4 homeostasis/metabolism MP:0005376 10.31 AGTR1 CRH CYP11B1 CYP11B2 CYP17A1 GIPR
5 endocrine/exocrine gland MP:0005379 10.2 CRH CYP11B1 CYP11B2 GIPR GNAS MEN1
6 adipose tissue MP:0005375 10.16 AGTR1 CRH CYP11B2 CYP17A1 GNAS NR3C1
7 immune system MP:0005387 10.15 AGTR1 CRH CYP11B2 CYP21A2 GNAS MEN1
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
Sources

Drugs & Therapeutics for Conn's Syndrome

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

(show top 50) (show all 270)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bromocriptine Approved, Investigational Phase 4 25614-03-3 31101
2
Captopril Approved Phase 4 62571-86-2 44093
3
Angiotensin II Approved, Investigational Phase 4 68521-88-0, 4474-91-3, 11128-99-7 172198
4
Losartan Approved Phase 4 114798-26-4 3961
5
Liraglutide Approved Phase 4 204656-20-2 44147092
6
Somatostatin Approved, Investigational Phase 4 51110-01-1, 38916-34-6 53481605
7
Lactitol Approved, Investigational Phase 4 585-86-4 157355
8 Angiotensin-Converting Enzyme Inhibitors Phase 4
9 insulin Phase 4
10 Insulin, Globin Zinc Phase 4
11 Angiotensin II Type 1 Receptor Blockers Phase 4
12 Angiotensin Receptor Antagonists Phase 4
13 Giapreza Phase 4
14 Angiotensinogen Phase 4
15 Kallikreins Phase 4
16 Sitagliptin Phosphate Phase 4
17 Dipeptidyl-Peptidase IV Inhibitors Phase 4
18 Incretins Phase 4
19
Terazosin Approved Phase 3 63590-64-7 5401
20
Metyrapone Approved, Investigational Phase 3 54-36-4 4174
21 Orange Approved Phase 3
22
Ketoconazole Approved, Investigational Phase 3 65277-42-1 47576
23 Kava Approved, Investigational, Nutraceutical Phase 3 9000-38-8
24
Enoxolone Investigational Phase 2, Phase 3 471-53-4 18526330
25 Pharmaceutical Solutions Phase 3
26
Tadalafil Approved, Investigational Phase 2 171596-29-5 110635
27
Bexarotene Approved, Investigational Phase 1, Phase 2 153559-49-0 82146
28
Gefitinib Approved, Investigational Phase 2 184475-35-2 123631
29
Iron Approved Phase 2 7439-89-6 23925 29936
30
Edetic Acid Approved, Vet_approved Phase 2 60-00-4, 62-33-9 6049
31
Pentetic acid Approved Phase 2 67-43-6
32
Levodopa Approved Phase 2 59-92-7 6047
33
Everolimus Approved Phase 2 159351-69-6 6442177 70789204
34
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030
35
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
36
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
37
Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
38
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
39
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
40
Octreotide Approved, Investigational Phase 1, Phase 2 83150-76-9 383414 6400441
41
Amlodipine Approved Phase 2 88150-42-9 2162
42
Vorinostat Approved, Investigational Phase 2 149647-78-9 5311
43
Mitotane Approved Phase 2 53-19-0 4211
44
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
45
Hydrocortisone Approved, Vet_approved Phase 2 50-23-7 5754
46
Hydrocortisone acetate Approved, Vet_approved Phase 2 50-03-3
47
Pasireotide Approved Phase 2 396091-73-9 9941444
48
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
49
Cabergoline Approved Phase 2 81409-90-7 54746
50
Rosiglitazone Approved, Investigational Phase 2 122320-73-4 77999

Interventional clinical trials:

(show top 50) (show all 198)
# Name Status NCT ID Phase Drugs
1 Does Aldosterone Cause Hypertension by a Non-Renal Mechanism? Unknown status NCT00553722 Phase 4 Eplerenone;Placebo
2 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
3 The Therapeutic Effect of Bromocriptin in Patients With Primary Aldosteronism Unknown status NCT00451672 Phase 4 bromocriptine
4 Kallikrein-kinin (KKS) and Renin-angiotensin-aldosterone System (RAAS) in Primary Aldosteronism Completed NCT00155064 Phase 4 captopril, Losartan (drug)
5 Glucocorticoid Receptor Blockade With Mifepristone in Patients With Mild Adrenal Hypercortisolism Completed NCT01990560 Phase 4 Mifepristone
6 Randomized Clinical Trial of Posterior Retroperitoneoscopic Adrenalectomy Versus Lateral Transperitoneal Laparoscopic Adrenalectomy With a Five-year Follow-up Completed NCT01959711 Phase 4
7 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
8 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
9 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 Active, not recruiting NCT01794793 Phase 4 Pasireotide;Cabergoline;Pasireotide
10 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 Unknown status NCT03653845 Phase 3 Sequenced antihypertensvie drugs with titrated dosage
11 Towards Cost-effective Management of Patients With Hypertension Due to Primary Aldosteronism: Adrenal Vein Sampling or Ct-scan? Completed NCT01096654 Phase 3
12 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
13 The Role of Mineralocorticoid Receptors in Vascular Function Completed NCT00759525 Phase 2, Phase 3 Glycyrrhetic Acid;Placebo
14 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
15 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
16 Prospective, Single Arm, Open-label, Multicenter, International Study to Assess the Effects of Metyrapone in Patients With Endogenous Cushing's Syndrome During a 12-week Treatment Period Followed by an Extension Period of 24 Weeks Completed NCT02297945 Phase 3 metyrapone
17 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 Levoketoconazole
18 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 Completed NCT03277690 Phase 3 Levoketoconazole;Placebo
19 An Open-label, Prospective, Controlled Clinical Trial on Effects and Safety of Adrenal Artery Ablation (Triple A) for Primary Aldosteronism Completed NCT03398785 Phase 3
20 A Phase III, Multi-center, Randomized, Double-blind, 48 Week Study With an Initial 12 Week Placebo-controlled Period to Evaluate the Safety and Efficacy of Osilodrostat in Patients With Cushing's Disease Completed NCT02697734 Phase 3 osilodrostat;osilodrostat Placebo
21 Study of Cabergoline in Treatment of Corticotroph Pituitary Tumor Completed NCT00889525 Phase 3 Cabergoline
22 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
23 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
24 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
25 Phase III, Multi-center, Double-blind, Randomized Withdrawal Study of LCI699 Following a 24 Week, Single-arm, Open-label Dose Titration and Treatment Period to Evaluate the Safety and Efficacy of LCI699 for the Treatment of Patients With Cushing's Disease Completed NCT02180217 Phase 3 osilodrostat;LCI699 matching placebo
26 Prevention of Metabolic Complications of Glucocorticoid Excess - a Randomised, Doubleblind,Placebo Controlled Study Completed NCT01319994 Phase 2, Phase 3 Metformin;Placebo
27 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
28 Glucocorticoid Receptor Antagonism in the Treatment of Hypercortisolism in Patients With Cortisol-Secreting Adrenal Adenomas or Hyperplasia: A Phase 3, Randomized, Double-Blind, Placebo-Controlled Study of the Efficacy and Safety of Relacorilant Recruiting NCT04308590 Phase 3 relacorilant
29 An Open-label Extension Study of Levoketoconazole (2S,4R-ketoconazole) in the Treatment of Endogenous Cushing's Syndrome Active, not recruiting NCT03621280 Phase 3 Levoketoconazole
30 An Open-label Study of the Safety, Pharmacokinetics and Pharmacodynamics of Mifepristone in Children With Refractory Cushing's Disease Withdrawn NCT01925092 Phase 3 mifepristone
31 Study on New Insights in Remodeling of Endocrine Cardiomyopathies: Intramyocardial, Molecular and Neuroendocrine Assessment in Response to Chronic Inhibition of Cyclic GMP Phosphodiesterase 5A in Cushing's Syndrome Unknown status NCT02611258 Phase 2 Tadalafil
32 Preoperative Bexarotene Treatment for Cushing's Disease Unknown status NCT00845351 Phase 1, Phase 2 Bexarotene
33 Targeted Therapy With Gefitinib in Patients With USP8-mutated Cushing's Disease Unknown status NCT02484755 Phase 2 Gefitinib
34 A Pilot, Single-blind, Forced-titration Study to Assess the Hemodynamic and Hormonal Effects, Safety and Tolerability of the Aldosterone Synthase Inhibitor LCI699 in Patients With Primary Hyperaldosteronism Completed NCT00732771 Phase 2 LCI699
35 A Phase II, Open-label, Dose Titration, Multi-center Study to Assess the Safety/Tolerability and Efficacy of Osilodrostat in Patients With All Types of Endogenous Cushing's Syndrome Except Cushing's Disease Completed NCT02468193 Phase 2 Osilodrostat
36 A Multicenter, Open Label Study to Assess the Safety and Efficacy of 600 µg SOM230, Administered Subcutaneously, b.i.d. in Patients With Cushing's Disease Completed NCT00088608 Phase 2 SOM230 s.c.
37 New Imaging Modalities in the Evaluation of Patients With Ectopic Cushing's Syndrome Completed NCT00001849 Phase 2 Pentetreotide;18F-DOPA;18-FDG
38 Phase 2 Study of the Safety and Efficacy of CORT125134 in the Treatment of Endogenous Cushing's Syndrome Completed NCT02804750 Phase 2 CORT125134
39 Open-label Study on Treatment of Primary Aldosteronism With Everolimus Completed NCT03174171 Phase 2 Everolimus 0.75 mg
40 A Randomized Phase 2 Study Evaluating Abiraterone Acetate With Different Steroid Regimens for Preventing Symptoms Associated With Mineralocorticoid Excess in Asymptomatic, Chemotherapy-naïve and Metastatic Castration-resistant Prostate Cancer (mCRPC) Patients Completed NCT01867710 Phase 2 Abiraterone Acetate;Prednisone 5 mg twice daily;Prednisone 5 mg once daily;Prednisone 2.5 mg twice daily;Dexamethasone 0.5 mg once daily
41 A Proof of Concept, Open-label, Forced Titration, Multi-center Study to Assess the Safety/Tolerability and Efficacy of 10-weeks Treatment of LCI699 in Patients With Cushing's Disease Completed NCT01331239 Phase 2 LCI699
42 Extension Study to Assess the Safety and Efficacy of Pasireotide in Patients With Cushing's Disease Completed NCT00171951 Phase 2 Pasireotide
43 Targeting Iatrogenic Cushing's Syndrome With 11β-hydroxysteroid Dehydrogenase Type 1 Inhibition (TICSI) Recruiting NCT03111810 Phase 2 AZD4017 and prednisolone;Placebo Oral Tablet and prednisolone
44 Evaluation of 68Ga -DOTATATE PET/CT, Octreotide and F-DOPA PET Imaging in Patients With Ectopic Cushing Syndrome Recruiting NCT02019706 Phase 1, Phase 2
45 An Open-label, Multi-center, Roll-over Study to Assess Long Term Safety in Patients With Endogenous Cushing's Syndrome Who Have Completed a Prior Novartis-sponsored Osilodrostat (LCI699) Study and Are Judged by the Investigator to Benefit From Continued Treatment With Osilodrostat Recruiting NCT03606408 Phase 2 osilodrostat
46 Calcium Channel Blockade in Primary Aldosteronism Recruiting NCT04179019 Phase 2 Amlodipine
47 A Randomized, Double-Blind, Placebo-Controlled, Multicenter, Parallel-Group, Dose-Ranging Study to Evaluate the Efficacy and Safety of CIN-107 for the Treatment of Patients With Primary Aldosteronism (PA) Recruiting NCT04605549 Phase 2 CIN-107 Dose 1;CIN-107 Dose 2;CIN-107 Dose 3;Placebo for CIN-107
48 DP13 - A Phase II Study in Patients With Primary Aldosteronism to Evaluate the Efficacy, Safety and Tolerability of DP13, Over an 8-week Treatment Period Recruiting NCT04007406 Phase 2 DP13
49 A Phase II, Multicenter, Open-label, Non-comparative Study to Evaluate the Pharmacokinetics, Pharmacodynamics, and Tolerability of Osilodrostat in Children and Adolescent Patients With Cushing's Disease Recruiting NCT03708900 Phase 2 LCI699
50 The Effect of Vorinostat on ACTH Producing Pituitary Adenomas in Cushing s Disease Recruiting NCT04339751 Phase 2 Vorinostat

Search NIH Clinical Center for Conn's Syndrome

Inferred drug relations via UMLS 70 / NDF-RT 51 :


Aminoglutethimide
Fludrocortisone
fluorocortisol acetate
Mitotane
pasireotide
Spironolactone
SPIRONOLACTONE PWDR

Cochrane evidence based reviews: cushing syndrome

Sources

Genetic Tests for Conn's Syndrome

About this section

Genetic tests related to Conn's Syndrome:

# Genetic test Affiliating Genes
1 Cushing Syndrome 29
2 Hypercortisolism 29
Sources

Anatomical Context for Conn's Syndrome

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MalaCards organs/tissues related to Conn's Syndrome:

40
Adrenal Gland, Pituitary, Cortex, Adrenal Cortex, Kidney, Bone, Thyroid
Sources

Publications for Conn's Syndrome

About this section

Articles related to Conn's Syndrome:

(show top 50) (show all 2878)
# Title Authors PMID Year
1
Cushing's syndrome secondary to adrenocorticotropin-independent macronodular adrenocortical hyperplasia due to activating mutations of GNAS1 gene. 6 54
12727968 2003
2
Recurrent somatic mutations underlie corticotropin-independent Cushing's syndrome. 6
24855271 2014
3
Activating mutations of the stimulatory g protein in juvenile ovarian granulosa cell tumors: a new prognostic factor? 6
16507630 2006
4
Thyroid carcinoma in the McCune-Albright syndrome: contributory role of activating Gs alpha mutations. 6
12970318 2003
5
Activating mutation of the stimulatory G protein (gsp) as a putative cause of ovarian and testicular human stromal Leydig cell tumors. 6
9626141 1998
6
Polymerase chain reaction-based technique for the selective enrichment and analysis of mosaic arg201 mutations in G alpha s from patients with fibrous dysplasia of bone. 6
9267696 1997
7
Characteristics of gsp-positive growth hormone-secreting pituitary tumors in Korean acromegalic patients. 6
8766942 1996
8
Increased expression of the c-fos proto-oncogene in bone from patients with fibrous dysplasia. 6
7739708 1995
9
Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome. 6
1594625 1992
10
Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. 6
1944469 1991
11
GTPase inhibiting mutations activate the alpha chain of Gs and stimulate adenylyl cyclase in human pituitary tumours. 6
2549426 1989
12
The McCune-Albright syndrome: a lethal gene surviving by mosaicism. 6
3720010 1986
13
Persisting Muscle Dysfunction in Cushing's Syndrome Despite Biochemical Remission. 42
32882010 2020
14
The Mechanisms Underlying Autonomous Adrenocorticotropic Hormone Secretion in Cushing's Disease. 42
33266265 2020
15
High positive predictive value of the combined pituitary dynamic enhanced MRI and high-dose dexamethasone suppression tests in the diagnosis of Cushing's disease bypassing bilateral inferior petrosal sinus sampling. 42
32895443 2020
16
Familial micronodular adrenocortical disease, Cushing syndrome, and mutations of the gene encoding phosphodiesterase 11A4 (PDE11A). 61 54
20351491 2010
17
A novel PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease and the Carney complex. 54 61
19833579 2010
18
[The postanalytical stage of clinical biochemistry. Pathogenetic bases of the classification of arterial hypertension]. 61 54
20401992 2010
19
Cushing syndrome in a young woman due to primary pigmented nodular adrenal disease. 54 61
19703806 2010
20
[Phylogenetic, pathogenetic fundamentals and a role of clinical biochemistry in classification of arterial hypertension]. 61 54
20050074 2009
21
Mineralocorticoid and glucocorticoid receptors stimulate epithelial sodium channel activity in a mouse model of Cushing syndrome. 54 61
19635986 2009
22
New genes and/or molecular pathways associated with adrenal hyperplasias and related adrenocortical tumors. 61 54
19063937 2009
23
[Conn's syndrome]. 61 54
19099278 2009
24
Hormonal and metabolic evaluation of adrenal incidentalomas. 61 54
19728761 2009
25
Vitamin D-mediated hypercalcemia and Cushing syndrome as manifestations of malignant pleural mesothelioma. 54 61
19095601 2008
26
Paraneoplastic Cushing syndrome because of corticotrophin-releasing hormone-secreting Wilms' tumor. 54 61
18970948 2008
27
Corticotropin-independent cushing syndrome in a child with an ovarian tumor misdiagnosed as nonclassic congenital adrenal hyperplasia. 61 54
18996816 2008
28
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. 61 54
18431404 2008
29
Detection of somatic beta-catenin mutations in primary pigmented nodular adrenocortical disease (PPNAD). 61 54
18419788 2008
30
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. 61 54
18753104 2008
31
[Inferior petrosal sinus catheterization: technical aspects]. 54 61
18604383 2008
32
Operative management of Cushing syndrome secondary to micronodular adrenal hyperplasia. 61 54
18549891 2008
33
Phosphodiesterase 11A (PDE11A) and genetic predisposition to adrenocortical tumors. 61 54
18559625 2008
34
Evaluation of proopiomelanocortin mRNA in the peripheral blood from patients with Cushing's syndrome of different origin. 61 54
18075284 2007
35
[Pseudo-Cushing states]. 54 61
18209868 2007
36
[Modern pharmacological aspects of hyperaldosteronism therapy]. 54 61
16823578 2006
37
A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia. 61 54
16767104 2006
38
A PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease in 12 kindreds. 54 61
16464939 2006
39
[Giant bilateral adrenal myelolipoma associated with congenital adrenal hyperplasia]. 61 54
16485216 2006
40
[Adrenal myelolipoma]. 54 61
15859562 2005
41
Safety of medications and hormones used in pediatric endocrinology: adrenal. 54 61
16456492 2004
42
Cyclical Cushing syndrome presenting in infancy: an early form of primary pigmented nodular adrenocortical disease, or a new entity? 54 61
15240590 2004
43
Stress and the female reproductive system. 61 54
15288182 2004
44
Protein kinase A and its role in human neoplasia: the Carney complex paradigm. 54 61
15163302 2004
45
Human tumors associated with Carney complex and germline PRKAR1A mutations: a protein kinase A disease! 54 61
12829237 2003
46
Role of ketoconazole treatment in urinary-free cortisol-to-cortisone and tetrahydrocortisol-to-tetrahydrocortisone ratios in nonectopic Cushing's syndrome. 61 54
12450320 2002
47
Ratio of serum aldosterone to plasma renin concentration in essential hypertension and primary aldosteronism. 61 54
11928071 2002
48
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
49
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
50
Polymorphic differences from normal in the aldosterone synthase gene (CYP11B2) in patients with primary hyperaldosteronism and adrenal tumour (Conn's syndrome). 61 54
11422106 2001
Sources

Variations for Conn's Syndrome

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ClinVar genetic disease variations for Conn's Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CACNA1H NM_021098.3(CACNA1H):c.4645A>G (p.Met1549Val) SNV Pathogenic 189779 rs786205050 GRCh37: 16:1262024-1262024
GRCh38: 16:1212024-1212024
2 GNAS NM_000516.6(GNAS):c.1A>G (p.Met1Val) SNV Pathogenic 15927 rs137854530 GRCh37: 20:57466782-57466782
GRCh38: 20:58891727-58891727
3 GNAS NM_000516.6(GNAS):c.85C>T (p.Gln29Ter) SNV Pathogenic 374113 rs1057518907 GRCh37: 20:57466866-57466866
GRCh38: 20:58891811-58891811
4 GNAS NM_000516.5:c.(?_-424)_(257_?)dup Duplication Pathogenic 987921 GRCh37:
GRCh38:
5 GNAS NM_000516.6(GNAS):c.602G>A (p.Arg201His) SNV Pathogenic 15934 rs121913495 GRCh37: 20:57484421-57484421
GRCh38: 20:58909366-58909366
6 GNAS NM_000516.6(GNAS):c.601C>A (p.Arg201Ser) SNV Pathogenic 15937 rs11554273 GRCh37: 20:57484420-57484420
GRCh38: 20:58909365-58909365
7 GNAS NM_000516.6(GNAS):c.601C>T (p.Arg201Cys) SNV Pathogenic 15933 rs11554273 GRCh37: 20:57484420-57484420
GRCh38: 20:58909365-58909365
8 GNAS NM_080425.3(GNAS):c.1200C>A (p.Ala400=) SNV Uncertain significance 417934 rs908810796 GRCh37: 20:57429520-57429520
GRCh38: 20:58854465-58854465
9 GNAS NM_080425.4(GNAS):c.1455C>A (p.Ala485=) SNV Uncertain significance 417936 rs55890501 GRCh37: 20:57429775-57429775
GRCh38: 20:58854720-58854720
10 CACNA1H NM_021098.3(CACNA1H):c.4714C>T (p.Arg1572Trp) SNV Benign 783259 rs199693105 GRCh37: 16:1262093-1262093
GRCh38: 16:1212093-1212093

Cosmic variations for Conn's Syndrome:

9 (show top 50) (show all 1492)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)		 Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM142561722 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.619A>G p.M207V 17:7674227-7674227 18
2 COSM142839625 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.587G>T p.R196L 17:7674944-7674944 18
3 COSM112301864 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.305C>T p.T102I 17:7676064-7676064 18
4 COSM142838509 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.736A>G p.M246V 17:7674227-7674227 18
5 COSM111765171 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.775G>T p.D259Y 17:7674188-7674188 18
6 COSM144658124 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.658G>T p.D220Y 17:7674188-7674188 18
7 COSM93233747 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.305C>T p.T102I 17:7676064-7676064 18
8 COSM105679498 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.305C>T p.T102I 17:7676064-7676064 18
9 COSM145062246 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.188C>T p.T63I 17:7676064-7676064 18
10 COSM93186843 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.587G>T p.R196L 17:7674944-7674944 18
11 COSM121883757 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.379G>T p.D127Y 17:7674188-7674188 18
12 COSM144058329 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.305C>T p.T102I 17:7676064-7676064 18
13 COSM143159410 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.110G>T p.R37L 17:7674944-7674944 18
14 COSM144654685 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.470G>T p.R157L 17:7674944-7674944 18
15 COSM106100323 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.305C>T p.T102I 17:7676064-7676064 18
16 COSM112256303 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.587G>T p.R196L 17:7674944-7674944 18
17 COSM143417242 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.188C>T p.T63I 17:7676064-7676064 18
18 COSM112255048 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.736A>G p.M246V 17:7674227-7674227 18
19 COSM144701288 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.188C>T p.T63I 17:7676064-7676064 18
20 COSM122277678 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.379G>T p.D127Y 17:7674188-7674188 18
21 COSM144313019 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.470G>T p.R157L 17:7674944-7674944 18
22 COSM111807159 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.305C>T p.T102I 17:7676064-7676064 18
23 COSM122740139 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.379G>T p.D127Y 17:7674188-7674188 18
24 COSM143162027 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.298G>T p.D100Y 17:7674188-7674188 18
25 COSM93185288 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.736A>G p.M246V 17:7674227-7674227 18
26 COSM144315359 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.658G>T p.D220Y 17:7674188-7674188 18
27 COSM87955161 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.305C>T p.T102I 17:7676064-7676064 18
28 COSM121878377 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.340A>G p.M114V 17:7674227-7674227 18
29 COSM112259562 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.775G>T p.D259Y 17:7674188-7674188 18
30 COSM144349981 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.188C>T p.T63I 17:7676064-7676064 18
31 COSM144089266 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.110G>T p.R37L 17:7674944-7674944 18
32 COSM122274519 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.191G>T p.R64L 17:7674944-7674944 18
33 COSM122273238 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.340A>G p.M114V 17:7674227-7674227 18
34 COSM144311602 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.619A>G p.M207V 17:7674227-7674227 18
35 COSM143949177 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.298G>T p.D100Y 17:7674188-7674188 18
36 COSM106059381 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.775G>T p.D259Y 17:7674188-7674188 18
37 COSM142876232 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.305C>T p.T102I 17:7676064-7676064 18
38 COSM143374128 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.470G>T p.R157L 17:7674944-7674944 18
39 COSM111762017 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.587G>T p.R196L 17:7674944-7674944 18
40 COSM142610553 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.188C>T p.T63I 17:7676064-7676064 18
41 COSM87905712 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.775G>T p.D259Y 17:7674188-7674188 18
42 COSM105627143 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.775G>T p.D259Y 17:7674188-7674188 18
43 COSM142562947 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.470G>T p.R157L 17:7674944-7674944 18
44 COSM144088172 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.259A>G p.M87V 17:7674227-7674227 18
45 COSM145024418 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.658G>T p.D220Y 17:7674188-7674188 18
46 COSM144015059 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.703A>G p.M235V 17:7674227-7674227 18
47 COSM111760179 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.736A>G p.M246V 17:7674227-7674227 18
48 COSM144016557 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.554G>T p.R185L 17:7674944-7674944 18
49 COSM143945685 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.259A>G p.M87V 17:7674227-7674227 18
50 COSM145021138 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.470G>T p.R157L 17:7674944-7674944 18
Sources

Expression for Conn's Syndrome

About this section
Search GEO for disease gene expression data for Conn's Syndrome.
Sources

Pathways for Conn's Syndrome

About this section

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
Peptide ligand-binding receptors 65
Show member pathways
 13.41 SST PRL POMC NR3C1 GNAS GIPR
2
G-Beta Gamma Signaling 63
Show member pathways
 12.47 PRKAR1A POMC KCNJ5 GNAS CRH CACNA1H
3
Aldosterone synthesis and secretion 36
Show member pathways
 12.17 POMC PDE11A MEN1 KCNJ5 GNAS CYP21A2
4
cAMP signaling pathway 36
12.11 SST POMC GNAS GIPR
5
G alpha (s) signalling events 65
11.93 POMC PDE11A GNAS GIPR CRH
6
Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics 60
Show member pathways
 11.64 REN NR3C2 CYP11B2 AGTR1
7
Glucocorticoid receptor regulatory network 1
11.6 PRL POMC NR3C1
8
Corticotropin-releasing hormone signaling pathway 1
11.6 POMC GNAS CYP21A2 CYP11B1 CRH CACNA1H
9
Renin secretion 36
11.51 REN GNAS AGTR1
10
Steroid hormone biosynthesis 36
Show member pathways
 11.48 HSD11B2 CYP21A2 CYP17A1 CYP11B2 CYP11B1
11
Metabolism of steroid hormones 65
Show member pathways
 11.34 POMC HSD11B2 CYP21A2 CYP17A1 CYP11B2 CYP11B1
12
superpathway of steroid hormone biosynthesis 1
Show member pathways
 10.94 CYP21A2 CYP17A1 CYP11B2 CYP11B1
13
Glucocorticoid Pathway (HPA Axis), Pharmacodynamics 60
10.3 POMC CRH
Sources

GO Terms for Conn's Syndrome

About this section

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

(show all 23)
# 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 female pregnancy GO:0007565 9.73 PRL HSD11B2 GNAS CRH
7 renal water homeostasis GO:0003091 9.72 PRKAR1A GNAS CYP11B2
8 cellular response to hormone stimulus GO:0032870 9.67 CYP11B2 CYP11B1 CACNA1H
9 sterol metabolic process GO:0016125 9.63 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 intracellular steroid hormone receptor signaling pathway GO:0030518 9.61 NR3C2 NR3C1
13 hormone-mediated apoptotic signaling pathway GO:0008628 9.58 SST CRH
14 cellular response to peptide hormone stimulus GO:0071375 9.58 MEN1 CYP11B2 CYP11B1
15 mineralocorticoid biosynthetic process GO:0006705 9.57 CYP21A2 CYP11B2
16 renin-angiotensin regulation of aldosterone production GO:0002018 9.56 REN AGTR1
17 positive regulation of cAMP-mediated signaling GO:0043950 9.54 GNAS GIPR CRH
18 cortisol metabolic process GO:0034650 9.51 CYP11B2 CYP11B1
19 regulation of blood volume by renal aldosterone GO:0002017 9.48 HSD11B2 CYP11B2
20 cellular response to potassium ion GO:0035865 9.43 CYP11B2 CYP11B1 CACNA1H
21 cortisol biosynthetic process GO:0034651 9.33 CYP11B2 CYP11B1 CACNA1H
22 aldosterone biosynthetic process GO:0032342 9.13 CYP11B2 CYP11B1 CACNA1H
23 glucocorticoid biosynthetic process GO:0006704 9.02 HSD11B2 CYP21A2 CYP17A1 CYP11B2 CYP11B1

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

# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 9.73 CYP21A2 CYP17A1 CYP11B2 CYP11B1
2 iron ion binding GO:0005506 9.71 CYP21A2 CYP17A1 CYP11B2 CYP11B1
3 hormone activity GO:0005179 9.67 SST PRL POMC CRH
4 insulin-like growth factor receptor binding GO:0005159 9.48 REN GNAS
5 corticotropin-releasing hormone receptor 1 binding GO:0051430 9.46 GNAS CRH
6 monooxygenase activity GO:0004497 9.46 CYP21A2 CYP17A1 CYP11B2 CYP11B1
7 corticosterone 18-monooxygenase activity GO:0047783 9.32 CYP11B2 CYP11B1
8 steroid 11-beta-monooxygenase activity GO:0004507 9.26 CYP11B2 CYP11B1
9 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.26 CYP21A2 CYP17A1 CYP11B2 CYP11B1
10 steroid binding GO:0005496 8.92 NR3C2 NR3C1 HSD11B2 CYP21A2
Sources

Sources for Conn's Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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