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MCID: CNN003
MIFTS: 79

Conn's Syndrome

Categories: Blood diseases, Cancer diseases, Endocrine diseases, Metabolic diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Conn's Syndrome

About this section

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:

MalaCards categories:
Global: Rare diseases Cancer diseases Metabolic diseases
Anatomical: Endocrine diseases Skin diseases Blood 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-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 growth delay and round face

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 (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 1074)
# Related Disease Score Top Affiliating Genes
1 acth-dependent cushing syndrome 34.8 PRL POMC CRH
2 acth-independent cushing syndrome 34.7 PRKAR1A PDE11A GNAS CYP21A2 CYP11B1
3 primary pigmented nodular adrenocortical disease 33.6 PRKAR1A POMC PDE11A NR3C1 MEN1 GNAS
4 aldosterone-producing adenoma 33.5 KCNJ5 CYP21A2 CYP11B2
5 mccune-albright syndrome 33.4 SST PRL PRKAR1A PDE11A MEN1 GNAS
6 familial hyperaldosteronism 33.3 MEN1 KCNJ5 CYP11B2 CYP11B1 CACNA1H AGTR1
7 adrenal cortical adenoma 33.0 REN PRKAR1A POMC MEN1 GIPR CYP21A2
8 ectopic cushing syndrome 32.9 SST POMC CRH
9 carney complex variant 32.8 SST PRL PRKAR1A POMC PDE11A MEN1
10 acth-independent macronodular adrenal hyperplasia 32.5 PRKAR1A POMC PDE11A GNAS GIPR CYP11B1
11 nelson syndrome 32.2 SST PRL POMC NR3C1 CRH
12 pituitary-dependent cushing's disease 32.0 SST PRL POMC NR3C1 CRH
13 hypokalemia 31.5 REN POMC NR3C2 NR3C1 KCNJ5 HSD11B2
14 hypoaldosteronism 31.4 REN POMC CYP11B2
15 adrenocortical carcinoma, hereditary 31.4 PRKAR1A GNAS CYP17A1
16 adenoma 31.4 SST REN PRL PRKAR1A POMC MEN1
17 carcinoid tumors, intestinal 31.3 SST MEN1
18 bronchial adenomas/carcinoids childhood 31.2 SST POMC
19 pituitary tumors 31.2 SST PRL POMC MEN1 GNAS
20 amenorrhea 31.1 PRL POMC CYP17A1 CRH
21 chromophobe adenoma 31.1 PRL POMC
22 acute adrenal insufficiency 31.1 REN POMC CYP21A2
23 congestive heart failure 31.1 REN NR3C2 CYP11B2 AGTR1
24 pheochromocytoma 31.1 SST REN PRL POMC MEN1 CRH
25 atrial fibrillation 31.0 REN NR3C2 KCNJ5 CYP11B2 AGTR1
26 thyroid carcinoma, familial medullary 31.0 SST PRKAR1A POMC MEN1
27 chronic kidney disease 31.0 REN POMC NR3C2 HSD11B2 GNAS CYP11B2
28 adrenal adenoma 31.0 REN PRKAR1A POMC NR3C2 MEN1 KCNJ5
29 lentigines 30.9 PRKAR1A POMC MEN1
30 cortisone reductase deficiency 30.9 POMC HSD11B2 CYP21A2
31 gynecomastia 30.9 PRL POMC NR3C2 CYP21A2
32 leydig cell tumor 30.9 GNAS CYP21A2 CYP17A1
33 hyperthyroidism 30.8 SST PRL POMC GNAS
34 hypoadrenocorticism, familial 30.8 REN POMC CYP21A2 CYP17A1 CYP11B2 CRH
35 parathyroid adenoma 30.8 PRKAR1A MEN1 GNAS
36 multiple endocrine neoplasia, type i 30.8 SST PRL PRKAR1A POMC MEN1 GNAS
37 diabetes mellitus 30.8 SST REN PRL POMC NR3C2 NR3C1
38 fibrous dysplasia 30.8 SST PRL GNAS
39 primary hyperparathyroidism 30.8 PRL PRKAR1A POMC MEN1
40 inappropriate adh syndrome 30.8 REN POMC CRH
41 liddle syndrome 1 30.8 REN NR3C2 NR3C1 HSD11B2 CYP11B2 CYP11B1
42 gastrinoma 30.8 SST POMC MEN1
43 anxiety 30.8 PRL POMC NR3C1 CRH
44 diabetes insipidus 30.8 REN PRL POMC CRH
45 pulmonary edema 30.7 REN NR3C2 AGTR1
46 goiter 30.7 SST PRL GNAS
47 premenstrual tension 30.7 REN POMC
48 pancreatic cystadenoma 30.7 SST POMC MEN1
49 atypical depressive disorder 30.7 POMC NR3C2 NR3C1 CRH
50 familial hypertension 30.7 REN NR3C2 HSD11B2 CYP11B2 AGTR1

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:

58 31 (show all 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 growth delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001510
2 round face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000311
3 truncal obesity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001956
4 abnormal subcutaneous fat tissue distribution 58 31 hallmark (90%) Very frequent (99-80%) HP:0007552
5 thin skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000963
6 erectile dysfunction 31 hallmark (90%) HP:0100639
7 muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0001324
8 hypokalemia 58 31 frequent (33%) Frequent (79-30%) HP:0002900
9 fatigue 58 31 frequent (33%) Frequent (79-30%) HP:0012378
10 irritability 58 31 frequent (33%) Frequent (79-30%) HP:0000737
11 acne 58 31 frequent (33%) Frequent (79-30%) HP:0001061
12 osteoporosis 58 31 frequent (33%) Frequent (79-30%) HP:0000939
13 anxiety 58 31 frequent (33%) Frequent (79-30%) HP:0000739
14 hypertension 58 31 frequent (33%) Frequent (79-30%) HP:0000822
15 depressivity 58 31 frequent (33%) Frequent (79-30%) HP:0000716
16 striae distensae 58 31 frequent (33%) Frequent (79-30%) HP:0001065
17 diabetes mellitus 58 31 frequent (33%) Frequent (79-30%) HP:0000819
18 decreased fertility 58 31 frequent (33%) Frequent (79-30%) HP:0000144
19 nephrolithiasis 58 31 frequent (33%) Frequent (79-30%) HP:0000787
20 recurrent fractures 58 31 frequent (33%) Frequent (79-30%) HP:0002757
21 generalized hirsutism 58 31 frequent (33%) Frequent (79-30%) HP:0002230
22 purpura 58 31 frequent (33%) Frequent (79-30%) HP:0000979
23 bruising susceptibility 58 31 frequent (33%) Frequent (79-30%) HP:0000978
24 irregular menstruation 58 31 frequent (33%) Frequent (79-30%) HP:0000858
25 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
26 avascular necrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0010885
27 sleep disturbance 58 31 occasional (7.5%) Occasional (29-5%) HP:0002360
28 reduced consciousness/confusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0004372
29 myopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003198
30 telangiectasia of the skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0100585
31 abdominal pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0002027
32 secondary amenorrhea 58 31 occasional (7.5%) Occasional (29-5%) HP:0000869
33 dilated cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001644
34 hyponatremia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002902
35 hypercholesterolemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003124
36 hypercalcemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003072
37 abnormality of the gastric mucosa 58 31 occasional (7.5%) Occasional (29-5%) HP:0004295
38 psychosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000709
39 neoplasm of the adrenal gland 58 31 occasional (7.5%) Occasional (29-5%) HP:0100631
40 increased circulating cortisol level 31 occasional (7.5%) HP:0003118
41 erectile abnormalities 58 Very frequent (99-80%)
42 abnormality of immune system physiology 58 Frequent (79-30%)
43 hypercortisolism 58 Occasional (29-5%)

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 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:

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
Sources

Drugs & Therapeutics for Conn's Syndrome

About this section

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

(show top 50) (show all 326)
# 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
Rilpivirine Approved Phase 4 500287-72-9
5
Darunavir Approved Phase 4 206361-99-1, 635728-49-3 213039
6
Cobicistat Approved Phase 4 1004316-88-4
7
Chlorthalidone Approved Phase 4 77-36-1 2732
8
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
9
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
10
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
11
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
12 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
13
Captopril Approved Phase 4 62571-86-2 44093
14
Losartan Approved Phase 4 114798-26-4 3961
15
Bisoprolol Approved Phase 4 66722-44-9 2405
16
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
17
Liraglutide Approved Phase 4 204656-20-2 44147092
18
Cyclophosphamide Approved, Investigational Phase 4 50-18-0, 6055-19-2 2907
19
Nitric Oxide Approved Phase 4 10102-43-9 145068
20
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
21
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
22
Lactitol Approved, Investigational Phase 4 585-88-6, 585-86-4 493591
23
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
24
Cabergoline Approved Phase 4 81409-90-7 54746
25
Testosterone Approved, Experimental, Investigational Phase 4 58-22-0, 481-30-1 10204 6013
26
Testosterone enanthate Approved Phase 4 315-37-7 9416
27
Testosterone undecanoate Approved, Investigational Phase 4 5949-44-0
28
Methyltestosterone Approved Phase 4 58-18-4 6010
29
Eplerenone Approved Phase 4 107724-20-9 150310 443872
30
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
31
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 5280795 6221
32
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
33
Canrenone Investigational Phase 4 976-71-6 13789
34 Cytochrome P-450 Enzyme Inhibitors Phase 4
35
protease inhibitors Phase 4
36 HIV Protease Inhibitors Phase 4
37 Anti-Infective Agents Phase 4
38 Cytochrome P-450 CYP3A Inhibitors Phase 4
39 Anti-HIV Agents Phase 4
40 Psychotropic Drugs Phase 4
41 Antiviral Agents Phase 4
42 Lipid Regulating Agents Phase 4
43 Anti-Obesity Agents Phase 4
44 Appetite Depressants Phase 4
45 Reverse Transcriptase Inhibitors Phase 4
46 Sodium Chloride Symporter Inhibitors Phase 4
47 Adrenocorticotropic Hormone Phase 4
48 glucocorticoids Phase 4
49 Corticotropin-Releasing Hormone Phase 4
50 Methylprednisolone Acetate Phase 4

Interventional clinical trials:

(show top 50) (show all 303)
# 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 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) Unknown status NCT02502981 Phase 4 Spironolactone;Chlortalidone
8 Glucocorticoid Receptor Blockade With Mifepristone in Patients With Mild Adrenal Hypercortisolism Completed NCT01990560 Phase 4 Mifepristone
9 Kallikrein-kinin (KKS) and Renin-angiotensin-aldosterone System (RAAS) in Primary Aldosteronism Completed NCT00155064 Phase 4 captopril, Losartan (drug)
10 Randomized Clinical Trial of Posterior Retroperitoneoscopic Adrenalectomy Versus Lateral Transperitoneal Laparoscopic Adrenalectomy With a Five-year Follow-up Completed NCT01959711 Phase 4
11 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
12 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
13 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
14 Effects of Eplerenone on Left Ventricular Hypertrophy in Patients With Resistant Hypertension and Obstructive Sleep Apnoea Completed NCT03186742 Phase 4 Eplerenone 50 mg Tab
15 The Effect of Corticotrophin-releasing Hormone (CRH) on Esophageal Motility in Healthy Volunteers Completed NCT02736734 Phase 4 CRH
16 Bisoprolol Versus Corticosteroid and Bisoprolol Combination for Prophylaxis Against Atrial Fibrillation After on Pump Coronary Artery Bypass Surgery Completed NCT03800264 Phase 4 Bisoprolol
17 Efficacy of Lower Dose Prednisolone in the Induction of Remission of Lupus Nephritis Completed NCT04146220 Phase 4 Prednisolone
18 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
19 Acetaminophen for Mood and Memory Changes Associated With Prednisone Therapy Completed NCT00377364 Phase 4 Drug: Acetaminophen, Drug: Placebo
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 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
22 Exploring the Effects of Corticosteroids on the Human Hippocampus Using Neurocognitive Testing and High Resolution Neuroimaging Active, not recruiting NCT03896659 Phase 4 Hydrocortisone Oral;Placebo Oral Tablet
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 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
38 Study of Cabergoline in Treatment of Corticotroph Pituitary Tumor Completed NCT00889525 Phase 3 Cabergoline
39 Effects of IL-1 Beta on the Hypothalamic-pituitary-adrenal (HPA) Axis in Obese Persons - the CortIL-Study Completed NCT02227420 Phase 3 Anakinra
40 Effectiveness of Eplerenone to Improve Target Organ Damage in Patients With Resistant Arterial Hypertension Completed NCT00138944 Phase 3 placebo;eplerenone
41 Induction of Ovulation With Raloxifene or Clomiphene Citrate in Polycystic Ovarian Syndrome Completed NCT00427700 Phase 3 clomiphene citrate;raloxifene
42 Prevention of Metabolic Complications of Glucocorticoid Excess - a Randomised, Doubleblind,Placebo Controlled Study Completed NCT01319994 Phase 2, Phase 3 Metformin;Placebo
43 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
44 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
45 An Open-label Extension Study of Levoketoconazole (2S,4R-ketoconazole) in the Treatment of Endogenous Cushing's Syndrome Recruiting NCT03621280 Phase 3 Levoketoconazole
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 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
48 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
49 Safety and Efficacy of Prednisolone in Adrenal Insufficiency Disease (PRED-AID Study) Recruiting NCT03936517 Phase 3 Prednisolone;Hydrocortisone
50 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

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

Sources

Genetic Tests for Conn's Syndrome

About this section

Genetic tests related to Conn's Syndrome:

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

Anatomical Context for Conn's Syndrome

About this section

MalaCards organs/tissues related to Conn's Syndrome:

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

Publications for Conn's Syndrome

About this section

Articles related to Conn's Syndrome:

(show top 50) (show all 2765)
# Title Authors PMID Year
1
ENDOCRINOLOGY IN THE TIME OF COVID-19: Management of Cushing's syndrome. 42
32380475 2020
2
Reference intervals of salivary cortisol and cortisone and their diagnostic accuracy in Cushing's syndrome. 42
32213657 2020
3
MANAGEMENT OF ENDOCRINE DISEASE: Cushing's syndrome due to ectopic ACTH secretion: an expert operational opinion. 42
31999619 2020
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]. 61 54
20401992 2010
7
Cushing syndrome in a young woman due to primary pigmented nodular adrenal disease. 61 54
19703806 2010
8
[Phylogenetic, pathogenetic fundamentals and a role of clinical biochemistry in classification of arterial hypertension]. 61 54
20050074 2009
9
Mineralocorticoid and glucocorticoid receptors stimulate epithelial sodium channel activity in a mouse model of Cushing syndrome. 61 54
19635986 2009
10
New genes and/or molecular pathways associated with adrenal hyperplasias and related adrenocortical tumors. 61 54
19063937 2009
11
[Conn's syndrome]. 54 61
19099278 2009
12
Hormonal and metabolic evaluation of adrenal incidentalomas. 61 54
19728761 2009
13
Vitamin D-mediated hypercalcemia and Cushing syndrome as manifestations of malignant pleural mesothelioma. 61 54
19095601 2008
14
Paraneoplastic Cushing syndrome because of corticotrophin-releasing hormone-secreting Wilms' tumor. 61 54
18970948 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. 61 54
18996816 2008
17
Detection of somatic beta-catenin mutations in primary pigmented nodular adrenocortical disease (PPNAD). 61 54
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. 61 54
18753104 2008
19
Operative management of Cushing syndrome secondary to micronodular adrenal hyperplasia. 54 61
18549891 2008
20
[Inferior petrosal sinus catheterization: technical aspects]. 54 61
18604383 2008
21
Phosphodiesterase 11A (PDE11A) and genetic predisposition to adrenocortical tumors. 54 61
18559625 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]. 61 54
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. 61 54
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
Stress and the female reproductive system. 61 54
15288182 2004
32
Protein kinase A and its role in human neoplasia: the Carney complex paradigm. 54 61
15163302 2004
33
Human tumors associated with Carney complex and germline PRKAR1A mutations: a protein kinase A disease! 61 54
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. 61 54
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. 61 54
11592817 2001
37
Expression of adrenocorticotropin receptor gene in adrenocortical adenomas from patients with Cushing syndrome: possible contribution for the autonomous production of cortisol. 61 54
11420487 2001
38
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
39
Adrenocorticotropin-independent macronodular adrenal hyperplasia: an uncommon cause of primary adrenal hypercortisolism. 61 54
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. 61 54
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. 61 54
9696732 1998
45
Alterations of RET oncogene in human adrenal tumors. 61 54
9703361 1998
46
Corticotropin-independent macronodular adrenal hyperplasia: a clinicopathologic correlation. 61 54
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]. 61 54
10453563 1997
49
Primary hyperaldosteronism. 61 54
15251493 1997
50
[Food-dependent Cushing syndrome: a new entity of organic hypercorticism]. 54 61
8758532 1996
Sources

Variations for Conn's Syndrome

About this section

ClinVar genetic disease variations for Conn's Syndrome:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GNAS NM_001077488.4(GNAS):c.604C>A (p.Arg202Ser)SNV Pathogenic 15937 rs11554273 20:57484420-57484420 20:58909365-58909365
2 CACNA1H NM_021098.3(CACNA1H):c.4645A>G (p.Met1549Val)SNV Pathogenic 189779 rs786205050 16:1262024-1262024 16:1212024-1212024
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 COSM130830317 KCNJ5 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.433G>C p.E145Q 11:128911706-128911706 21
19 COSM130829678 KCNJ5 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.472A>G p.T158A 11:128911745-128911745 21
20 COSM130828728 KCNJ5 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.451G>C p.G151R 11:128911724-128911724 21
21 COSM130828673 KCNJ5 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.503T>G p.L168R 11:128911776-128911776 21
22 COSM130828655 KCNJ5 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.451G>A p.G151R 11:128911724-128911724 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 COSM93760866 GNAS adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.2530C>T p.R844C 20:58909365-58909365 21
30 COSM93760887 GNAS adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.2531G>A p.R844H 20:58909366-58909366 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 COSM150924907 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.137T>C p.L46P 3:41224649-41224649 21
34 COSM150913745 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.134C>G p.S45C 3:41224646-41224646 21
35 COSM150913552 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.100G>A p.G34R 3:41224612-41224612 21
36 COSM150913593 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.95A>G p.D32G 3:41224607-41224607 21
37 COSM150913536 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.121A>G p.T41A 3:41224633-41224633 21
38 COSM150913542 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.134C>T p.S45F 3:41224646-41224646 21
39 COSM150913545 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.133T>C p.S45P 3:41224645-41224645 21
40 COSM150914950 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.130C>G p.P44A 3:41224642-41224642 21
41 COSM150913731 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.110C>G p.S37C 3:41224622-41224622 21
42 COSM150913524 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.98C>G p.S33C 3:41224610-41224610 21
43 COSM150913963 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.107A>C p.H36P 3:41224619-41224619 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 COSM88348224 CACNA1D adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.3511G>T p.V1171F 3:53749404-53749404 21
49 COSM88345689 CACNA1D adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.1207G>C p.G403R 3:53673803-53673803 21
50 COSM88345969 CACNA1D adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.2299T>C p.F767L 3:53730459-53730459 21
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
 12.8 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
 11.61 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
 11.38 POMC HSD11B2 CYP21A2 CYP17A1 CYP11B2 CYP11B1
12
superpathway of steroid hormone biosynthesis 1
Show member pathways
 10.97 CYP21A2 CYP17A1 CYP11B2 CYP11B1
13
Glucocorticoid Pathway (HPA Axis), Pharmacodynamics 60
10.28 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 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 9.8 CYP21A2 CYP17A1 CYP11B2 CRH
5 regulation of blood pressure GO:0008217 9.77 REN POMC CYP11B1
6 cellular response to hormone stimulus GO:0032870 9.74 CYP11B2 CYP11B1 CACNA1H
7 female pregnancy GO:0007565 9.73 PRL HSD11B2 GNAS CRH
8 renal water homeostasis GO:0003091 9.7 PRKAR1A GNAS CYP11B2
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 hormone-mediated apoptotic signaling pathway GO:0008628 9.58 SST CRH
13 cellular response to peptide hormone stimulus GO:0071375 9.58 MEN1 CYP11B2 CYP11B1
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 9.51 CYP11B2 CYP11B1
18 regulation of blood volume by renal aldosterone GO:0002017 9.48 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 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

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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
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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