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MCID: CNN003
MIFTS: 73

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
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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 77 15
Hyperaldosteronism 12 77 30 56 45 41 17 74
Cushing's Syndrome 12 77 54 55 30 6 44
Cushing Syndrome 12 54 38 56 45 17 74
Primary Hyperaldosteronism 12 54 30 6 15
Primary Aldosteronism 12 77 54 38 15
Hypercortisolism 54 55 30 56
Conn Syndrome 12 54 74
Acth Syndrome, Ectopic 17 74
Adrenal Hyperfunction Resulting from Pituitary Acth Excess 54
Ectopic Adrenocorticotropic Hormone Syndrome 54
Nodular Primary Adrenocortical Dysplasia 54
Adrenal Gland Hyperfunction 74
Adrenal Cushing's Syndrome 74
Adrenal Cortical Adenoma 74
Mineralocorticoid Excess 54
Adrenal Cortex Adenoma 54
Ectopic Acth Syndrome 54
Aldosteronism Primary 56
Acth Syndrome Ectopic 56
Hyperadrenocorticism 54
Cushing's Disease 15

Classifications:

MalaCards categories:
Global: Rare diseases Cancer diseases Metabolic diseases
Anatomical: Endocrine diseases Skin diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 34


Sources

Summaries for Conn's Syndrome

About this section
NINDS : 55 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 hyperaldosteronism, is related to primary pigmented nodular adrenocortical disease and acth-secreting pituitary adenoma, 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 Renin secretion. The drugs Racepinephrine and Epinephrine have been mentioned in the context of this disorder. Affiliated tissues include pituitary, adrenal gland and testes, and related phenotypes are thin skin and growth delay

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

NIH Rare Diseases : 54 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 : 44 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

Wikipedia : 77 Primary aldosteronism, also known as primary hyperaldosteronism or Conn''s syndrome, refers to the... more...

Sources

Related Diseases for Conn's Syndrome

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

(show top 50) (show all 579)
# Related Disease Score Top Affiliating Genes
1 primary pigmented nodular adrenocortical disease 33.1 GNAS POMC PRKAR1A
2 acth-secreting pituitary adenoma 32.8 CRH NR3C1 POMC PRL
3 familial hyperaldosteronism 32.4 AGTR1 CACNA1H CYP11B1 CYP11B2 KCNJ5
4 mccune-albright syndrome 32.2 GH1 GNAS PRL SST
5 ectopic cushing syndrome 32.2 CRH POMC SST
6 pituitary tumors 32.1 GH1 GNAS POMC PRL SST
7 adrenal cortical adenoma 31.9 CYP11B1 CYP17A1 CYP21A2 GIPR POMC PRKAR1A
8 nelson syndrome 31.1 CRH NR3C1 POMC PRL SST
9 bronchial adenomas/carcinoids childhood 30.8 POMC SST
10 adrenal gland disease 30.7 CRH CYP11B1 CYP11B2 HSD11B2 KCNJ5 NR3C1
11 renovascular hypertension 30.5 AGTR1 NPPA REN
12 bronchus adenoma 30.5 POMC SST
13 aldosterone-producing adenoma 30.5 CYP11B2 CYP21A2 KCNJ5
14 hypokalemia 30.4 HSD11B2 NR3C1 NR3C2 POMC REN
15 pituitary-dependent cushing's disease 30.3 CRH CYP21A2 POMC PRL SST
16 chromophobe adenoma 30.3 GH1 POMC PRL
17 mental depression 30.2 CRH NR3C1 POMC
18 arthrogryposis, distal, type 3 30.2 NR3C2 REN
19 renal artery disease 30.2 AGTR1 REN
20 multiple endocrine neoplasia, type i 30.2 GNAS PRKAR1A PRL SST
21 lipoid congenital adrenal hyperplasia 30.2 CYP11B1 CYP11B2 CYP17A1 CYP21A2 POMC REN
22 corticosteroid-binding globulin deficiency 30.2 HSD11B2 NR3C1 POMC
23 hypoadrenocorticism, familial 30.1 CRH CYP21A2 POMC
24 lymphocytic hypophysitis 30.1 GH1 POMC
25 hypoadrenalism 30.1 CRH GH1 POMC
26 pheochromocytoma 30.1 CRH POMC REN SST
27 acute adrenal insufficiency 30.1 CYP21A2 POMC REN
28 hypoaldosteronism 30.1 CYP11B2 NPPA POMC REN
29 gangliocytoma 30.1 CRH POMC
30 glucose metabolism disease 30.0 POMC REN SST
31 apparent mineralocorticoid excess 30.0 HSD11B2 NR3C1 NR3C2 REN
32 fibrous dysplasia 30.0 GH1 GNAS PRL SST
33 empty sella syndrome 30.0 GH1 POMC PRL
34 sheehan syndrome 29.9 CRH POMC PRL
35 hypothyroidism 29.9 GH1 GNAS POMC PRL
36 hyperinsulinism 29.9 GH1 KCNJ5 SST
37 hypopituitarism 29.9 CRH GH1 POMC PRL
38 adrenal cortical hypofunction 29.9 CRH CYP21A2 POMC REN
39 non-functioning pituitary adenoma 29.9 GH1 SST
40 pituitary apoplexy 29.9 POMC PRL
41 pituitary carcinoma 29.9 CRH POMC PRL SST
42 diabetes insipidus 29.9 CRH POMC PRL REN
43 amenorrhea 29.9 CRH POMC PRL
44 precocious puberty 29.9 CYP21A2 GH1 GNAS
45 adenoma 29.8 CYP11B2 CYP21A2 GH1 GNAS HSD11B2 KCNJ5
46 acromegaly 29.8 GH1 GNAS POMC PRL SST
47 mood disorder 29.8 CRH NR3C1 POMC
48 liddle syndrome 1 29.8 CYP11B2 HSD11B2 NR3C1 NR3C2 REN
49 hyperandrogenism 29.8 CYP17A1 CYP21A2 POMC PRL
50 anorexia nervosa 29.8 CRH GH1 POMC PRL

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

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Human phenotypes related to Conn's Syndrome:

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

UMLS symptoms related to Conn's Syndrome:


agitation, cushingoid facies

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.32 AGTR1 CYP11B1 CYP21A2 GIPR GNAS HSD11B2

MGI Mouse Phenotypes related to Conn's Syndrome:

47 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.34 AGTR1 CACNA1H CRH CYP11B1 CYP17A1 GNAS
2 cardiovascular system MP:0005385 10.29 AGTR1 CACNA1H CYP11B1 CYP11B2 GNAS HSD11B2
3 homeostasis/metabolism MP:0005376 10.27 AGTR1 CRH CYP11B1 CYP11B2 CYP17A1 GIPR
4 growth/size/body region MP:0005378 10.25 AGTR1 CACNA1H CRH CYP11B1 CYP11B2 CYP17A1
5 adipose tissue MP:0005375 10.11 AGTR1 CRH CYP11B2 CYP17A1 GNAS NR3C1
6 endocrine/exocrine gland MP:0005379 10.11 CRH CYP11B1 CYP11B2 GIPR GNAS NR3C1
7 hematopoietic system MP:0005397 10.1 AGTR1 CRH CYP11B2 GNAS NPPA NR3C1
8 immune system MP:0005387 10.02 AGTR1 CRH CYP11B2 GNAS NR3C1 POMC
9 muscle MP:0005369 9.81 CACNA1H CYP11B1 GNAS HSD11B2 NPPA NR3C1
10 liver/biliary system MP:0005370 9.8 CRH CYP11B2 GNAS NR3C1 POMC PRKAR1A
11 nervous system MP:0003631 9.7 AGTR1 CACNA1H CRH CYP11B2 GNAS NR3C1
12 renal/urinary system MP:0005367 9.36 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 191)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Racepinephrine Approved Phase 4,Phase 3,Phase 2,Not Applicable 329-65-7 838
2
Epinephrine Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 51-43-4 5816
3
Bromocriptine Approved, Investigational Phase 4 25614-03-3 31101
4
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
5
Captopril Approved Phase 4 62571-86-2 44093
6
Eplerenone Approved Phase 4,Phase 3,Not Applicable 107724-20-9 150310 443872
7
Angiotensin II Approved, Investigational Phase 4,Not Applicable 68521-88-0, 11128-99-7, 4474-91-3 172198 65143
8
Losartan Approved Phase 4 114798-26-4 3961
9
Mifepristone Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 84371-65-3 55245
10 Mydriatics Phase 4,Phase 3,Not Applicable
11 Adrenergic beta-Agonists Phase 4,Phase 3,Not Applicable
12 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Not Applicable
13 Adrenergic Agonists Phase 4,Phase 3,Not Applicable
14 Vasoconstrictor Agents Phase 4,Phase 3,Not Applicable
15 Anti-Asthmatic Agents Phase 4,Phase 3,Not Applicable
16 Autonomic Agents Phase 4,Phase 3,Phase 2,Not Applicable
17 Neurotransmitter Agents Phase 4,Phase 3,Not Applicable
18 Sympathomimetics Phase 4,Phase 3,Not Applicable
19 Adrenergic alpha-Agonists Phase 4,Phase 3,Not Applicable
20 Epinephryl borate Phase 4,Phase 3,Phase 2,Not Applicable
21 Bronchodilator Agents Phase 4,Phase 3,Not Applicable
22 Adrenergic Agents Phase 4,Phase 3,Not Applicable
23 Respiratory System Agents Phase 4,Phase 3,Not Applicable
24 Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
25 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
26 Hormones Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
27 Antiparkinson Agents Phase 4
28 Dopamine agonists Phase 4
29 Dopamine Agents Phase 4
30 HIV Protease Inhibitors Phase 4
31
protease inhibitors Phase 4
32 Angiotensin-Converting Enzyme Inhibitors Phase 4,Not Applicable
33 Antihypertensive Agents Phase 4,Phase 3,Not Applicable
34 glucocorticoids Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
35 Mineralocorticoids Phase 4,Phase 3,Not Applicable
36 Natriuretic Agents Phase 4,Phase 3,Not Applicable
37 Mineralocorticoid Receptor Antagonists Phase 4,Phase 3,Not Applicable
38 Diuretics, Potassium Sparing Phase 4,Phase 3,Not Applicable
39 diuretics Phase 4,Phase 3,Not Applicable
40 Insulin, Globin Zinc Phase 4,Phase 2,Not Applicable
41 insulin Phase 4,Phase 2,Not Applicable
42 Angiotensin Receptor Antagonists Phase 4
43 Coagulants Phase 4
44 Angiotensin II Type 1 Receptor Blockers Phase 4
45 Anti-Arrhythmia Agents Phase 4
46 Angiotensinogen Phase 4,Not Applicable
47 Giapreza Phase 4,Not Applicable
48 Fertility Agents Phase 4
49 Kallikreins Phase 4
50 Luteolytic Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable

Interventional clinical trials:

(show top 50) (show all 156)
# 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 Kallikrein-kinin (KKS) and Renin-angiotensin-aldosterone System (RAAS) in Primary Aldosteronism Completed NCT00155064 Phase 4 captopril, Losartan (drug)
4 Randomized Clinical Trial of Posterior Retroperitoneoscopic Adrenalectomy Versus Lateral Laparoscopic Adrenalectomy Completed NCT01959711 Phase 4
5 Glucocorticoid Receptor Blockade With Mifepristone in Patients With Mild Adrenal Hypercortisolism Completed NCT01990560 Phase 4 Mifepristone
6 Aldosterone Antagonism and Microvascular Function Terminated NCT01887119 Phase 4 Eplerenone
7 Effects of Metyrapone in Patients With Endogenous Cushing's Syndrome Unknown status NCT02297945 Phase 3 metyrapone
8 Prevention of Metabolic Complications of Glucocorticoid Excess Unknown status NCT01319994 Phase 2, Phase 3 Metformin;Placebo
9 SPARTACUS: Subtyping Primary Aldosteronism: a Randomized Trial Comparing Adrenal Vein Sampling and Computed Tomography Scan. Completed NCT01096654 Phase 3
10 Effectiveness of Eplerenone to Improve Target Organ Damage in Patients With Resistant Arterial Hypertension Completed NCT00138944 Phase 3 placebo;eplerenone
11 An Extension Study of CORLUX in the Treatment of Endogenous Cushing's Syndrome Completed NCT00936741 Phase 3 mifepristone
12 Treatment for Endogenous Cushing's Syndrome Completed NCT01838551 Phase 3 COR-003
13 A Study of the Efficacy and Safety of CORLUX in the Treatment of Endogenous Cushing's Syndrome Completed NCT00569582 Phase 3 mifepristone
14 Compassionate Use of CORLUX® (Mifepristone) in the Treatment of Signs and Symptoms of Endogenous Cushing's Syndrome Completed NCT01371565 Phase 3 Mifepristone
15 Effects of IL-1 Beta on the HPA-axis in Obese Persons Completed NCT02227420 Phase 3 Anakinra
16 Efficacy and Safety of Pasireotide Administered Monthly in Patients With Cushing's Disease Completed NCT01374906 Phase 3 pasireotide LAR;SOM230 LAR 30 mg;SOM230 LAR 10 mg
17 Safety and Efficacy of Different Dose Levels of Pasireotide in Patients With de Novo, Persistent or Recurrent Cushing's Disease Completed NCT00434148 Phase 3 Pasireotide
18 An Open-label, Multi-center, Expanded Access Study of Pasireotide s.c. in Patients With Cushing's Disease. Completed NCT01582061 Phase 3 Pasireotide sub-cutaneous
19 Adrenal Artery Ablation for Primary Aldosteronism Recruiting NCT03653845 Phase 3 Sequenced antihypertensvie drugs with titrated dosage
20 Adrenal Artery Ablation Treats Primary Aldosteronism Recruiting NCT03398785 Phase 3
21 Adrenal Artery Ablation for Uncontrolled Hypertension Recruiting NCT03660397 Phase 3 Traditional triple antihypertensive treatment
22 A Study of the Efficacy and Safety of Relacorilant in Patients With Endogenous Cushing Syndrome Recruiting NCT03697109 Phase 3 Relacorilant
23 A Study to Assess the Safety and Efficacy of Levoketoconazole in the Treatment of Endogenous Cushing's Syndrome. Recruiting NCT03277690 Phase 3 Levoketoconazole;Placebo
24 Open-label Treatment in Cushing's Syndrome Recruiting NCT03621280 Phase 3 Levoketoconazole
25 Mifepristone in Children With Refractory Cushing's Disease Withdrawn NCT01925092 Phase 3 mifepristone
26 Open-label Study on Treatment of Primary Aldosteronism With Everolimus Completed NCT03174171 Phase 2 Everolimus 0.75 mg
27 Proof-of-concept for the Aldosterone Synthase Inhibitor LCI699 in Patients With Primary Hyperaldosteronism Completed NCT00732771 Phase 2 LCI699
28 Study to Evaluate CORT125134 in Patients With Cushing's Syndrome Completed NCT02804750 Phase 2 CORT125134
29 Study of Efficacy and Safety of Osilodrostat in Cushing's Syndrome Completed NCT02468193 Phase 2 Osilodrostat
30 A Study to Assess SOM230 in Patients With Pituitary Cushing's Disease Completed NCT00088608 Phase 2 SOM230 s.c.
31 Glucocorticoid Receptor Antagonism in Subclinical Cushings Completed NCT00721201 Phase 1, Phase 2 Mifepristone
32 Mifepristone for Metabolic Syndrome Completed NCT01419535 Phase 1, Phase 2 Mifepristone
33 A Study of ATR-101 for the Treatment of Endogenous Cushing's Syndrome Recruiting NCT03053271 Phase 2 ATR-101;Placebo
34 Extension Study to Evaluate the Safety and Clinical Benefit of Long-Term Use of Relacorilant in Patients With Cushing Syndrome Recruiting NCT03604198 Phase 2 relacorilant
35 Endocrine Cardiomyopathy in Cushing Syndrome: Response to Cyclic GMP PDE5 inhibitOrs Recruiting NCT02611258 Phase 2 Tadalafil
36 Evaluation of 68Ga-DOTATATE PET/CT, Octreotide and F-DOPA PET Imaging in Patients With Ectopic Cushing Syndrome Recruiting NCT02019706 Phase 2 F-DOPA PET Scan;Mifepristone;Ga-DOTATATE;Octreoscan
37 Roll-over Study in Patients With Endogenous Cushing's Syndrome for LCI699 Recruiting NCT03606408 Phase 2 osilodrostat
38 New Imaging Techniques in the Evaluation of Patients With Ectopic Cushing Syndrome Recruiting NCT00001849 Phase 1, Phase 2 Pentetreotide;18-F-fluorodeoxyglucose;(18F)-L-3,4-dihydroxyophenylalanine (18F-DOPA)
39 Targeting Iatrogenic Cushing's Syndrome With 11β-hydroxysteroid Dehydrogenase Type 1 Inhibition Recruiting NCT03111810 Phase 2 AZD4017 and prednisolone;Placebo Oral Tablet and prednisolone
40 Efficacy of Mifepristone in Males With Type 2 Diabetes Mellitus Recruiting NCT03052400 Phase 2 Mifepristone 600 mg daily;Placebo
41 Activity of Abiraterone Acetate in the Management of Cushing's Syndrome in Patients With Adrenocortical Carcinoma Active, not recruiting NCT03145285 Phase 2 Abiraterone Acetate
42 Prospective, Open-Label, Multicenter, International Study of Mifepristone for Symptomatic Treatment of Cushing's Syndrome Caused by Ectopic Adrenal Corticotrophin Hormone (ACTH) Secretion Terminated NCT00422201 Phase 2 Mifepristone
43 Study of Adrenalectomy Versus Observation for Subclinical Hypercortisolism Terminated NCT02001051 Phase 2
44 Study of Pasireotide in Patients With Rare Tumors of Neuroendocrine Origin Terminated NCT00958841 Phase 2 pasireotide LAR
45 Treatment of Cushing's Disease With R-roscovitine Terminated NCT02160730 Phase 2 R-roscovitine
46 SOM230 Ectopic ACTH-producing Tumors Withdrawn NCT02780882 Phase 2 Pasireotide
47 Evaluation of Cerebral Small Vessel Disease in Patient With Primary Aldosteronism Not yet recruiting NCT03821571 Phase 1
48 Primary Aldosteronism in Malaysia: A Nationwide Multicentre Study Unknown status NCT02257450
49 Prevalence of Primary Aldosteronism in Hypertensive Patients Presenting With Atrial Flutter or Fibrillation Unknown status NCT01267747
50 Metabolic Syndrome and Insulin Resistance in Primary Aldosteronism Unknown status NCT00173082

Search NIH Clinical Center for Conn's Syndrome

Inferred drug relations via UMLS 74 / NDF-RT 52 :


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 30 GNAS
2 Primary Hyperaldosteronism 30
3 Hyperaldosteronism 30
4 Hypercortisolism 30
Sources

Anatomical Context for Conn's Syndrome

About this section

MalaCards organs/tissues related to Conn's Syndrome:

42
Pituitary, Adrenal Gland, Testes, Skin, Kidney, Heart, Bone
Sources

Publications for Conn's Syndrome

About this section

Articles related to Conn's Syndrome:

(show top 50) (show all 1764)
# Title Authors Year
1
Exacerbation of Cushing's syndrome during pregnancy: stimulation of a cortisol-secreting adrenocortical adenoma by ACTH originating from the foeto-placental unit. ( 30738017 )
2019
2
Perioperative management of patient with Conn's syndrome and severe hypokalaemia: How low is too low? ( 30745619 )
2019
3
Intractable Hypokalemia: a Red Herring for Rapidly Evolving Ectopic Cushing's Syndrome. ( 30685911 )
2019
4
A unique case of ectopic Cushing's syndrome from a thymic neuroendocrine carcinoma. ( 30802210 )
2019
5
Arterial thrombosis as primary presentation of endogenous Cushing's syndrome. ( 30733248 )
2019
6
Unmasking of Sarcoidosis After Successful Management of Cushing's Syndrome. ( 30911452 )
2019
7
Frequency of Primary Hyperaldosteronism in Young Hypertensives in a Tertiary Care Setting of Rawalpindi. ( 30630571 )
2019
8
Na/K pump mutations associated with primary hyperaldosteronism cause loss of function. ( 30811176 )
2019
9
A Novel Clinical Nomogram to Predict Bilateral Hyperaldosteronism in Chinese Patients with Primary Aldosteronism. ( 30820995 )
2019
10
PTH Modulation by Aldosterone and Angiotensin II is Blunted in Hyperaldosteronism and Rescued by Adrenalectomy. ( 30865228 )
2019
11
Peripheral primitive neuroectodermal tumor associated with paraneoplastic Cushing's syndrome: The rare case. ( 30581565 )
2019
12
Ectopic Cushing's syndrome secondary to olfactory neuroblastoma. ( 29340776 )
2018
13
Hypokalemia associated with pseudo-Cushing's syndrome and magnesium deficiency induced by chronic alcohol abuse. ( 29450857 )
2018
14
Glucocorticoid-remediable aldosteronism in a young adult with a family history of Conn's syndrome. ( 29445488 )
2018
15
An ectopic adrenocortical adenoma in renal hilum presenting with Cushing's syndrome: A case report and literature review. ( 30557981 )
2018
16
PREOPERATIVE TREATMENT WITH METYRAPONE IN PATIENTS WITH CUSHING'S SYNDROME DUE TO ADRENAL ADENOMA. ( 30352400 )
2018
17
Primary hyperaldosteronism induced by aldosterone-producing adenoma co-existing with a left suprarenal accessory spleen: two case reports and a review of the literature. ( 30120761 )
2018
18
Cushing's Syndrome and Hypothalamic-Pituitary-Adrenal Axis Hyperactivity in Chronic Central Serous Chorioretinopathy. ( 29515517 )
2018
19
Robot-assisted Partial Adrenalectomy for the Treatment of Conn's Syndrome: Surgical Technique, and Perioperative and Functional Outcomes. ( 30077398 )
2018
20
Short- and long-term results of laparoscopic adrenalectomy for Conn's syndrome. ( 30302141 )
2018
21
Increased myocardial sodium signal intensity in Conn's syndrome detected by 23Na magnetic resonance imaging. ( 30307545 )
2018
22
23-Sodium magnetic resonance imaging of the human heart revisited: new insights in patients with Conn's syndrome. ( 30329027 )
2018
23
Lesson of the month 2: An unusual cause of depression in an older man: Cushing's syndrome resulting from metastatic small cell cancer of the prostate. ( 30287444 )
2018
24
Familial hyperaldosteronism type III a novel case and review of literature. ( 30569443 )
2018
25
Cushing's syndrome caused by a neuroendocrine carcinoma of the ampulla of Vater with ectopic adrenocorticotropic hormone secretion. ( 29150120 )
2018
26
Etomidate in the control of severe Cushing's syndrome by neuroendocrine carcinoma. ( 29744071 )
2018
27
Cyclic Cushing's syndrome caused by neuroendocrine tumor: a case report. ( 30568069 )
2018
28
Sinonasal paraganglioma and Cushing's syndrome: A rare association. ( 30249912 )
2018
29
Villus Growth, Increased Intestinal Epithelial Sodium Selectivity, and Hyperaldosteronism Are Mechanisms of Adaptation in a Murine Model of Short Bowel Syndrome. ( 30569336 )
2018
30
Somatic mutations in adrenocortical carcinoma with hyperaldosteronism. ( 30475217 )
2018
31
Comparison of adipose tissue derived genes in endogenous Cushing's syndrome versus diet-induced obesity. ( 30480750 )
2018
32
Cushing's syndrome with no clinical stigmata - a variant of glucocorticoid resistance syndrome. ( 30598838 )
2018
33
Sustaining the momentum: Negative cross-sectional imaging for primary hyperaldosteronism should not preclude endocrine surgical referral. ( 30343950 )
2018
34
Cellular and Genetic Causes of Idiopathic Hyperaldosteronism. ( 30354720 )
2018
35
Idiopathic Hyperaldosteronism. ( 30354730 )
2018
36
Predictors of confirmatory test results for the diagnosis of primary hyperaldosteronism in hypertensive patients with an aldosterone-to-renin ratio greater than 20. The SHRIMP study. ( 30401909 )
2018
37
Eplerenone improves endothelial function and arterial stiffness and inhibits Rho-associated kinase activity in patients with idiopathic hyperaldosteronism: a pilot study. ( 30418321 )
2018
38
Resistant hypertension secondary to coexisting primary hyperaldosteronism and renal artery stenosis. ( 30430513 )
2018
39
Effects of hypoestrogenism and/or hyperaldosteronism on myocardial remodeling in female mice. ( 30430766 )
2018
40
Risk of severe erectile dysfunction in primary hyperaldosteronism: A population-based propensity score matching cohort study. ( 30473204 )
2018
41
Family hyperaldosteronism type I: a clinical case and review of literature. ( 30701745 )
2018
42
Histone deacetylase inhibition attenuates hepatic steatosis in rats with experimental Cushing's syndrome. ( 29302209 )
2018
43
Adding metyrapone to chemotherapy plus mitotane for Cushing's syndrome due to advanced adrenocortical carcinoma. ( 29019062 )
2018
44
Cement pulmonary embolism after percutaneous vertebroplasty in a patient with cushing's syndrome: A case report. ( 30073141 )
2018
45
An Unusual Case of Takotsubo Syndrome With Hyperaldosteronism as the Potential Cause. ( 29095987 )
2018
46
Anomalous adrenal vein anatomy complicating the evaluation of primary hyperaldosteronism. ( 29487649 )
2018
47
Genetic aspects of primary hyperaldosteronism. ( 29938936 )
2018
48
'Malignant' hypertension from hyperaldosteronism: a case report. ( 30123413 )
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49
Obesity as a Key Factor Underlying Idiopathic Hyperaldosteronism. ( 30165444 )
2018
50
Inherited Forms of Primary Hyperaldosteronism: New Genes, New Phenotypes and Proposition of A New Classification. ( 30199917 )
2018
Sources

Variations for Conn's Syndrome

About this section

ClinVar genetic disease variations for Conn's Syndrome:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 GNAS NM_000516.5(GNAS): c.601C> T (p.Arg201Cys) single nucleotide variant Pathogenic/Likely pathogenic rs11554273 GRCh37 Chromosome 20, 57484420: 57484420
2 GNAS NM_000516.5(GNAS): c.601C> T (p.Arg201Cys) single nucleotide variant Pathogenic/Likely pathogenic rs11554273 GRCh38 Chromosome 20, 58909365: 58909365
3 GNAS NM_000516.5(GNAS): c.602G> A (p.Arg201His) single nucleotide variant Pathogenic/Likely pathogenic rs121913495 GRCh37 Chromosome 20, 57484421: 57484421
4 GNAS NM_000516.5(GNAS): c.602G> A (p.Arg201His) single nucleotide variant Pathogenic/Likely pathogenic rs121913495 GRCh38 Chromosome 20, 58909366: 58909366
5 GNAS NM_000516.5(GNAS): c.601C> A (p.Arg201Ser) single nucleotide variant Pathogenic rs11554273 GRCh37 Chromosome 20, 57484420: 57484420
6 GNAS NM_000516.5(GNAS): c.601C> A (p.Arg201Ser) single nucleotide variant Pathogenic rs11554273 GRCh38 Chromosome 20, 58909365: 58909365
7 GNAS NM_080425.3(GNAS): c.1200C> A (p.Ala400=) single nucleotide variant Uncertain significance rs908810796 GRCh37 Chromosome 20, 57429520: 57429520
8 GNAS NM_080425.3(GNAS): c.1200C> A (p.Ala400=) single nucleotide variant Uncertain significance rs908810796 GRCh38 Chromosome 20, 58854465: 58854465
9 GNAS NM_080425.3(GNAS): c.1455C> A (p.Ala485=) single nucleotide variant Uncertain significance rs55890501 GRCh37 Chromosome 20, 57429775: 57429775
10 GNAS NM_080425.3(GNAS): c.1455C> A (p.Ala485=) single nucleotide variant Uncertain significance rs55890501 GRCh38 Chromosome 20, 58854720: 58854720
11 CACNA1H NM_021098.2(CACNA1H): c.4645A> G (p.Met1549Val) single nucleotide variant Pathogenic rs786205050 GRCh38 Chromosome 16, 1212024: 1212024
12 CACNA1H NM_021098.2(CACNA1H): c.4645A> G (p.Met1549Val) single nucleotide variant Pathogenic rs786205050 GRCh37 Chromosome 16, 1262024: 1262024

Cosmic variations for Conn's Syndrome:

9 (show top 50) (show all 82)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)		 Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM11552 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.775G>T p.D259Y 17:7674188-7674188 0
2 COSM43678 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.305C>T p.T102I 17:7676064-7676064 0
3 COSM45444 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.587G>T p.R196L 17:7674944-7674944 0
4 COSM43555 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.736A>G p.M246V 17:7674227-7674227 0
5 COSM1367296 RB1 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.2094G>T p.R698S 13:48459821-48459821 0
6 COSM225014 RB1 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.1960G>A p.V654M 13:48456349-48456349 0
7 COSM326321 RB1 adrenal gland,adrenal gland,adrenal cortical carcinoma,cortisol producing c.1994T>G p.L665R 13:48459721-48459721 0
8 COSM26707 PRKAR1A adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.664A>G p.K222E 17:68525868-68525868 0
9 COSM26708 PRKAR1A adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.892-1G>A p.? 17:68529919-68529919 0
10 COSM4167506 PRKACA adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.617T>G p.L206R 19:14097604-14097604 0
11 COSM5885970 PRKACA adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.262C>G p.H88D 19:14102890-14102890 0
12 COSM6944239 PLCG2 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.615C>A p.F205L 16:81870902-81870902 0
13 COSM6944237 NUP93 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.2172G>T p.Q724H 16:56839556-56839556 0
14 COSM584 NRAS adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.182A>G p.Q61R 1:114713908-114713908 0
15 COSM6944241 NF1 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.3265G>T p.E1089* 17:31232140-31232140 0
16 COSM22568 MEN1 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.325G>T p.E109* 11:64809785-64809785 0
17 COSM23025 MEN1 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.1654A>T p.T552S 11:64804513-64804513 0
18 COSM6944234 KMT2A adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.8408C>A p.S2803* 11:118504309-118504309 0
19 COSM1684717 KCNJ5 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.451G>A p.G151R 11:128911724-128911724 0
20 COSM1684718 KCNJ5 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.503T>G p.L168R 11:128911776-128911776 0
21 COSM1684720 KCNJ5 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.451G>C p.G151R 11:128911724-128911724 0
22 COSM4745630 KCNJ5 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.343C>T p.R115W 11:128911616-128911616 0
23 COSM1732665 KCNJ5 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.376T>C p.W126R 11:128911649-128911649 0
24 COSM1717390 KCNJ5 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.433G>C p.E145Q 11:128911706-128911706 0
25 COSM1684719 KCNJ5 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.472A>G p.T158A 11:128911745-128911745 0
26 COSM4745631 KCNJ5 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.737A>G p.E246G 11:128912010-128912010 0
27 COSM5546565 KCNJ5 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.439G>C p.E147Q 11:128911712-128911712 0
28 COSM5990170 KCNJ5 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.461T>G p.F154C 11:128911734-128911734 0
29 COSM27887 GNAS adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.601C>T p.R201C 20:58909365-58909365 0
30 COSM27899 GNAS adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.601C>A p.R201S 20:58909365-58909365 0
31 COSM27895 GNAS adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.602G>A p.R201H 20:58909366-58909366 0
32 COSM4962873 GNAS adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.679C>G p.Q227E 20:58909540-58909540 0
33 COSM5663 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.133T>C p.S45P 3:41224645-41224645 0
34 COSM5692 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.134C>A p.S45Y 3:41224646-41224646 0
35 COSM5667 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.134C>T p.S45F 3:41224646-41224646 0
36 COSM5689 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.134C>G p.S45C 3:41224646-41224646 0
37 COSM17661 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.130C>G p.P44A 3:41224642-41224642 0
38 COSM5678 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.107A>C p.H36P 3:41224619-41224619 0
39 COSM5664 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.121A>G p.T41A 3:41224633-41224633 0
40 COSM5686 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.100G>A p.G34R 3:41224612-41224612 0
41 COSM5679 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.110C>G p.S37C 3:41224622-41224622 0
42 COSM1423013 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.137T>C p.L46P 3:41224649-41224649 0
43 COSM5988492 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.101G>C p.G34A 3:41224613-41224613 0
44 COSM5681 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.95A>G p.D32G 3:41224607-41224607 0
45 COSM5677 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.98C>G p.S33C 3:41224610-41224610 0
46 COSM5693 CTNNB1 adrenal gland,adrenal gland,adrenal cortical carcinoma,cortisol producing c.118A>G p.T40A 3:41224630-41224630 0
47 COSM6944226 CDC73 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.790G>T p.A264S 1:193147927-193147927 0
48 COSM1717762 CACNA1D adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.776T>A p.V259D 3:53665669-53665669 0
49 COSM1738073 CACNA1D adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.1207G>C p.G403R 3:53673803-53673803 0
50 COSM1717766 CACNA1D adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.4112C>G p.P1371R 3:53772840-53772840 0
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

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Pathways related to Conn's Syndrome according to KEGG:

38
# Name Kegg Source Accession
1 Calcium signaling pathway hsa04020
2 Renin secretion hsa04924
3 Aldosterone-regulated sodium reabsorption hsa04960
4 Adrenergic signaling in cardiomyocytes hsa04261
5 Cushing syndrome hsa04934

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

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Peptide ligand-binding receptors 67
Show member pathways
 13.37 AGTR1 CRH GH1 GIPR GNAS NR3C1
2
G-Beta Gamma Signaling 65
Show member pathways
 12.87 CACNA1H CRH GH1 GNAS KCNJ5 POMC
3
Myometrial Relaxation and Contraction Pathways 1
Show member pathways
 12.34 CRH GNAS KCNJ5 PRKAR1A
4
Prolactin Signaling Pathway 1 38
Show member pathways
 12.28 CYP17A1 GH1 NR3C1 PRL
5
Aldosterone synthesis and secretion 38
Show member pathways
 12.14 AGTR1 CACNA1H CYP11B1 CYP11B2 CYP17A1 CYP21A2
6
G alpha (s) signalling events 67
11.92 CRH GIPR GNAS POMC
7
Glucocorticoid receptor regulatory network 1
11.6 NR3C1 POMC PRL
8
Corticotropin-releasing hormone signaling pathway 1
11.6 CACNA1H CRH CYP11B1 CYP21A2 GNAS POMC
9
Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics 62
Show member pathways
 11.57 AGTR1 CYP11B2 NR3C2 REN
10
G-protein signaling_RhoA regulation pathway 23
11.53 CACNA1H GH1 GNAS PRKAR1A
11
Renin secretion 38
11.51 AGTR1 GNAS REN
12
Steroid hormone biosynthesis 38
Show member pathways
 11.47 CYP11B1 CYP11B2 CYP17A1 CYP21A2 HSD11B2
13
Metabolism of steroid hormones 67
Show member pathways
 11.38 CYP11B1 CYP11B2 CYP17A1 CYP21A2 HSD11B2 POMC
14
superpathway of steroid hormone biosynthesis 1
Show member pathways
 10.97 CYP11B1 CYP11B2 CYP17A1 CYP21A2
15
Glucocorticoid Pathway (HPA Axis), Pharmacodynamics 62
10.32 CRH POMC
Sources

GO Terms for Conn's Syndrome

About this section

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

# Name GO ID Score Top Affiliating Genes
1 endosome lumen GO:0031904 8.62 GH1 PRL

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 regulation of signaling receptor activity GO:0010469 9.97 GH1 NPPA POMC PRL SST
2 response to drug GO:0042493 9.85 CRH GNAS HSD11B2 REN SST
3 regulation of blood pressure GO:0008217 9.8 CYP11B1 NPPA POMC REN
4 steroid biosynthetic process GO:0006694 9.78 CYP11B1 CYP11B2 CYP17A1 CYP21A2
5 steroid metabolic process GO:0008202 9.77 CRH CYP11B1 CYP11B2 CYP17A1 CYP21A2
6 female pregnancy GO:0007565 9.72 CRH GNAS HSD11B2 NPPA PRL
7 renal water homeostasis GO:0003091 9.71 CYP11B2 GNAS PRKAR1A
8 positive regulation of cAMP-mediated signaling GO:0043950 9.69 CRH GIPR GNAS
9 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.61 GH1 PRL
10 C21-steroid hormone biosynthetic process GO:0006700 9.61 CYP11B1 CYP11B2
11 cellular response to potassium ion GO:0035865 9.61 CACNA1H CYP11B1 CYP11B2
12 response to nutrient GO:0007584 9.6 GIPR SST
13 negative regulation of systemic arterial blood pressure GO:0003085 9.59 CRH NPPA
14 cellular response to hormone stimulus GO:0032870 9.58 CACNA1H CYP11B1 CYP11B2
15 hormone-mediated apoptotic signaling pathway GO:0008628 9.57 CRH SST
16 mineralocorticoid biosynthetic process GO:0006705 9.56 CYP11B2 CYP21A2
17 sterol metabolic process GO:0016125 9.56 CYP11B1 CYP11B2 CYP17A1 CYP21A2
18 renin-angiotensin regulation of aldosterone production GO:0002018 9.55 AGTR1 REN
19 regulation of blood volume by renal aldosterone GO:0002017 9.52 CYP11B2 HSD11B2
20 aldosterone biosynthetic process GO:0032342 9.33 CACNA1H CYP11B1 CYP11B2
21 parturition GO:0007567 9.28 CRH
22 cortisol biosynthetic process GO:0034651 9.13 CACNA1H CYP11B1 CYP11B2
23 glucocorticoid biosynthetic process GO:0006704 9.1 CRH CYP11B1 CYP11B2 CYP17A1 CYP21A2 HSD11B2

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.89 CYP11B1 CYP11B2 CYP17A1 CYP21A2 HSD11B2
2 heme binding GO:0020037 9.73 CYP11B1 CYP11B2 CYP17A1 CYP21A2
3 iron ion binding GO:0005506 9.71 CYP11B1 CYP11B2 CYP17A1 CYP21A2
4 insulin-like growth factor receptor binding GO:0005159 9.48 GNAS REN
5 corticotropin-releasing hormone receptor 1 binding GO:0051430 9.46 CRH GNAS
6 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.46 CYP11B1 CYP11B2 CYP17A1 CYP21A2
7 corticosterone 18-monooxygenase activity GO:0047783 9.37 CYP11B1 CYP11B2
8 prolactin receptor binding GO:0005148 9.32 GH1 PRL
9 steroid 11-beta-monooxygenase activity GO:0004507 9.26 CYP11B1 CYP11B2
10 steroid binding GO:0005496 9.26 CYP21A2 HSD11B2 NR3C1 NR3C2
11 hormone activity GO:0005179 9.1 CRH GH1 NPPA POMC PRL SST
Sources

Sources for Conn's Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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