MCID: CNN003
MIFTS: 70

Conn's Syndrome

Categories: Rare diseases, Endocrine diseases, Cancer diseases

Aliases & Classifications for Conn's Syndrome

MalaCards integrated aliases for Conn's Syndrome:

Name: Conn's Syndrome 12 72 14
Cushing's Syndrome 12 72 49 50 36 28 40
Hyperaldosteronism 12 72 28 51 41 14 69
Cushing Syndrome 12 49 51 41 69
Primary Aldosteronism 12 72 49 36
Primary Hyperaldosteronism 12 49 28
Conn Syndrome 12 49 69
Adrenal Hyperfunction Resulting from Pituitary Acth Excess 49
Ectopic Adrenocorticotropic Hormone Syndrome 49
Nodular Primary Adrenocortical Dysplasia 49
Adrenal Gland Hyperfunction 69
Adrenal Cushing's Syndrome 69
Adrenal Cortical Adenoma 69
Mineralocorticoid Excess 49
Adrenal Cortex Adenoma 49
Acth Syndrome, Ectopic 69
Ectopic Acth Syndrome 49
Aldosteronism Primary 51
Acth Syndrome Ectopic 51
Hyperadrenocorticism 49
Hypercortisolism 49

Classifications:



Summaries for Conn's Syndrome

NINDS : 50 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's syndrome, is related to apparent mineralocorticoid excess and ectopic cushing syndrome, and has symptoms including decreased fertility, round face and cataract. 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 Epinephrine and Racepinephrine have been mentioned in the context of this disorder. Affiliated tissues include adrenal gland, pituitary and skin, and related phenotypes are Increased transferrin (TF) endocytosis and cardiovascular system

NIH Rare Diseases : 49 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. Last updated: 11/28/2014

MedlinePlus : 40 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

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

Wikipedia : 72 Primary aldosteronism, also known as primary hyperaldosteronism or Conn\'s syndrome, is excess... more...

Related Diseases for Conn's Syndrome

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

(show top 50) (show all 128)
# Related Disease Score Top Affiliating Genes
1 apparent mineralocorticoid excess 33.7 CLCNKB HSD11B2 NR3C1 NR3C2 POMC REN
2 ectopic cushing syndrome 33.6 CRH MEN1 POMC
3 hyperaldosteronism, familial, type i 33.4 CYP11B1 CYP11B2 HSD11B2 NR3C1 NR3C2 POMC
4 aldosterone-producing adenoma 33.0 CYP11B2 CYP21A2 KCNJ5 REN
5 acth-secreting pituitary adenoma 32.0 CRH GNAS NR3C1 POMC
6 adrenal gland hyperfunction 31.7 CRH CYP21A2 NR3C1 NR3C2 POMC
7 familial hyperaldosteronism 31.5 AGTR1 CACNA1H CYP11B1 CYP11B2 KCNJ5 MEN1
8 nelson syndrome 31.3 CRH NR3C1 POMC
9 adrenocortical carcinoma, hereditary 30.1 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 MC2R
10 liddle syndrome 30.0 CYP11B2 HSD11B2 NR3C1 NR3C2 REN
11 adenoma 29.8 CYP11B2 GNAS HSD11B2 MEN1 POMC
12 acromegaly 29.7 GNAS MEN1 POMC
13 adrenal adenoma 27.3 CRH CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2
14 hyperaldosteronism, familial, type iii 12.6
15 hyperaldosteronism, familial, type ii 12.5
16 primary aldosteronism, seizures, and neurologic abnormalities 12.3
17 cushing syndrome due to macronodular adrenal hyperplasia 12.0
18 cushing syndrome, familial 11.9
19 pituitary adenoma 4, acth-secreting 11.9
20 acth-independent macronodular adrenal hyperplasia 11.8
21 pigmented nodular adrenocortical disease, primary, 4 11.7
22 pigmented nodular adrenocortical disease, primary, 1 11.6
23 pigmented nodular adrenocortical disease, primary, 2 11.6
24 pigmented nodular adrenocortical disease, primary, 3 11.6
25 primary pigmented nodular adrenocortical disease 11.6
26 acth-independent macronodular adrenal hyperplasia 2 11.5
27 mccune-albright syndrome 11.3
28 hyperaldosteronism, familial, type iv 11.0
29 glucocorticoid resistance, generalized 11.0
30 suprasellar meningioma 10.5 POMC REN
31 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 10.4 CYP21A2 POMC
32 inappropriate adh syndrome 10.4 POMC REN
33 pituitary carcinoma 10.4 CRH GNAS POMC
34 premenstrual tension 10.4 CRH POMC REN
35 postural hypotension 10.4 NPPA REN
36 hypothalamic disease 10.4 CRH POMC
37 arthrogryposis, distal, type 3 10.3 NR3C2 REN SLC12A3
38 cytochrome p450 oxidoreductase deficiency 10.3 CYP17A1 CYP21A2 POMC
39 diabetes insipidus 10.3 CRH POMC REN
40 persistent fetal circulation syndrome 10.3 CRH HSD11B2 POMC
41 hypertensive heart disease 10.3 AGTR1 CYP11B2 NR3C2
42 corticosteroid-binding globulin deficiency 10.3 HSD11B2 NR3C1 POMC
43 pseudohypoaldosteronism, type i, autosomal dominant 10.3 NR3C2 REN
44 sex differentiation disease 10.3 CYP17A1 CYP21A2 POMC
45 urinary system disease 10.3 CRH POMC REN
46 allergic urticaria 10.3 CRH NR3C1
47 pseudohyperkalemia, familial, 2, due to red cell leak 10.3 CYP11B2 CYP21A2 NR3C2 REN
48 hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy 10.3 MEN1 NR3C2
49 pituitary-dependent cushing's disease 10.3 CRH CYP21A2 POMC
50 renal fibrosis 10.3 AGTR1 NR3C2 REN

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


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

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



Diseases related to Conn's Syndrome

Symptoms & Phenotypes for Conn's Syndrome

Human phenotypes related to Conn's Syndrome:

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

UMLS symptoms related to Conn's Syndrome:


agitation, cushingoid facies

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased transferrin (TF) endocytosis GR00363-A 9.4 CLCNKB CRH CYP11A1 CYP11B1 CYP11B2 CYP21A2

MGI Mouse Phenotypes related to Conn's Syndrome:

43 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.36 NPPA NR3C1 HSD11B2 KCNJ5 MC2R NR3C2
2 behavior/neurological MP:0005386 10.29 GNAS NR3C1 HSD11B2 MC2R NR3C2 CYP11A1
3 growth/size/body region MP:0005378 10.25 NR3C1 MC2R NR3C2 MEN1 GNAS CYP11A1
4 homeostasis/metabolism MP:0005376 10.25 NPPA NR3C1 HSD11B2 MC2R NR3C2 MEN1
5 hematopoietic system MP:0005397 10.11 NPPA GNAS NR3C1 MC2R NR3C2 CYP11A1
6 adipose tissue MP:0005375 10.1 GNAS NR3C1 MC2R AGTR1 CYP11B2 CRH
7 endocrine/exocrine gland MP:0005379 10.09 GNAS NR3C1 MC2R MEN1 CYP11A1 CYP11B1
8 muscle MP:0005369 9.85 NPPA NR3C1 HSD11B2 NR3C2 MEN1 GNAS
9 liver/biliary system MP:0005370 9.8 GNAS NR3C1 MEN1 CYP11A1 CYP11B2 CRH
10 nervous system MP:0003631 9.73 GNAS NR3C1 MC2R NR3C2 MEN1 CYP11A1
11 renal/urinary system MP:0005367 9.47 NR3C1 HSD11B2 NR3C2 POMC NPPA GNAS

Drugs & Therapeutics for Conn's Syndrome

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

(show top 50) (show all 92)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Epinephrine Approved, Vet_approved Phase 4,Phase 3 51-43-4 5816
2 Racepinephrine Approved Phase 4,Phase 3 329-65-7
3
Bromocriptine Approved, Investigational Phase 4 25614-03-3 31101
4
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
5
Captopril Approved Phase 4 62571-86-2 44093
6
Eplerenone Approved Phase 4,Phase 3 107724-20-9 443872 150310
7
Spironolactone Approved Phase 4,Phase 3 1952-01-7, 52-01-7 5833
8
Angiotensin II Approved, Investigational Phase 4 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
9
Losartan Approved Phase 4 114798-26-4 3961
10 Adrenergic Agents Phase 4,Phase 3
11 Adrenergic Agonists Phase 4,Phase 3
12 Adrenergic alpha-Agonists Phase 4,Phase 3
13 Adrenergic beta-Agonists Phase 4,Phase 3
14 Anti-Asthmatic Agents Phase 4,Phase 3
15 Autonomic Agents Phase 4,Phase 3
16 Bronchodilator Agents Phase 4,Phase 3
17 Epinephryl borate Phase 4,Phase 3
18 Mydriatics Phase 4,Phase 3
19 Neurotransmitter Agents Phase 4,Phase 3
20 Peripheral Nervous System Agents Phase 4,Phase 3
21 Respiratory System Agents Phase 4,Phase 3
22 Vasoconstrictor Agents Phase 4,Phase 3
23 Antiparkinson Agents Phase 4
24 Dopamine Agents Phase 4
25 Dopamine agonists Phase 4
26 Hormone Antagonists Phase 4,Phase 3
27 Hormones Phase 4,Phase 3
28 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3
29 Angiotensin-Converting Enzyme Inhibitors Phase 4
30 Antihypertensive Agents Phase 4,Phase 3
31 HIV Protease Inhibitors Phase 4
32
protease inhibitors Phase 4
33 diuretics Phase 4,Phase 3
34 Diuretics, Potassium Sparing Phase 4,Phase 3
35 insulin Phase 4
36 Insulin, Globin Zinc Phase 4
37 Mineralocorticoid Receptor Antagonists Phase 4,Phase 3
38 Mineralocorticoids Phase 4,Phase 3
39 Natriuretic Agents Phase 4,Phase 3
40 Angiotensin II Type 1 Receptor Blockers Phase 4
41 Angiotensin Receptor Antagonists Phase 4
42 Angiotensinogen Phase 4
43 Anti-Arrhythmia Agents Phase 4
44 Coagulants Phase 4
45 Fertility Agents Phase 4
46 Kallikreins Phase 4
47
Hydrocortisone Approved, Vet_approved Phase 3 50-23-7 657311 5754
48
Ethanol Approved Phase 3 64-17-5 702
49 Kava Approved, Investigational, Nutraceutical Phase 3 9000-38-8
50 Adrenocorticotropic Hormone Phase 3

Interventional clinical trials:

(show top 50) (show all 54)

# 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 Aldosterone Antagonism and Microvascular Function Recruiting NCT01887119 Phase 4 Eplerenone
6 SPARTACUS: Subtyping Primary Aldosteronism: a Randomized Trial Comparing Adrenal Vein Sampling and Computed Tomography Scan. Completed NCT01096654 Phase 3
7 Effectiveness of Eplerenone to Improve Target Organ Damage in Patients With Resistant Arterial Hypertension Completed NCT00138944 Phase 3 placebo;eplerenone
8 Adrenal Artery Ablation Treats Primary Aldosteronism Recruiting NCT03398785 Phase 3
9 Proof-of-concept for the Aldosterone Synthase Inhibitor LCI699 in Patients With Primary Hyperaldosteronism Completed NCT00732771 Phase 2 LCI699
10 Open-label Study on Treatment of Primary Aldosteronism With Everolimus Recruiting NCT03174171 Phase 2 Everolimus 0.75 mg
11 Metabolic Syndrome and Insulin Resistance in Primary Aldosteronism Unknown status NCT00173082
12 Prevalence of Primary Aldosteronism in Hypertensive Patients Presenting With Atrial Flutter or Fibrillation Unknown status NCT01267747
13 Postoperative Cardiovascular Index Change of Primary Aldosteronism Unknown status NCT00746070
14 Diagnosis of Primary Aldosteronism: Comparison of Post Captopril Active Renin Concentration and Plasma Renin Activity Unknown status NCT00917345 captopril test
15 Diagnostic Properties of Aldosterone-Renin Ratio in Primary Aldosteronism Among Hypertensives. Unknown status NCT00407784 eplerenone
16 D2 Dopamine Receptor on Human Aldosterone-Producing Adenoma and Its Role in Aldosterone Secretion and Cell Proliferation Unknown status NCT00173446
17 Anesthesia Management of Retroperitoneal Adrenalectomies Unknown status NCT00894335
18 Optimizing Diagnosis Of Primary Aldosteronism Completed NCT02755519
19 Primary Hyperaldosteronism and Ischemia-reperfusion Injury Completed NCT01978132
20 The Effect of Disease-specific Treatment on Bone Turnover Markers in Patients With Primary Aldosteronism Completed NCT02216721
21 Primary Aldosteronism in General Practice: Organ Damage, Epidemiology and Treatment Completed NCT01728493
22 Study of CS-3150 in Patients With Primary Aldosteronism Completed NCT02885662 CS-3150
23 Prevalence of Primary Aldosteronism in Patients With Resistant Hypertension in China Completed NCT01459042
24 Intraoperative Analysis of Cortisol During Adrenal Vein Sampling Completed NCT01761344
25 Arterial Stiffness Index as a Predictor of Surgically Correctable Primary Aldosteronism Completed NCT01190501
26 Study of Myocardial Interstitial Fibrosis in Hyperaldosteronism Completed NCT02938910
27 Adrenal Vein Sampling International Study (AVIS Study) Completed NCT01234220
28 ARBITRAGE : cARdiotoxicity Profile of aBIraTeRone in prostAte Cancer : a pharmacoviGilancE Study Completed NCT03243604 L02 (sex hormones used in treatment of neoplastic diseases) and G03 (sex hormones)
29 Aldosterone, Microvascular Function and Salt-sensitivity Completed NCT02068781
30 Etiology of Sleep Apnea-related Hyperaldosteronism - BP Treatment Completed NCT01897727 Spironolactone;BP medication uptitration
31 Comparison Between Posterior Retroperitoneoscopic Adrenalectomy and Laparoscopic Adrenalectomy Completed NCT01676025
32 Effects of Salt Intake on the Nervous Systems of Patients With Salt-Sensitive High Blood Pressure Completed NCT00001176
33 Screening for Primary Aldosteronism in a Population of Patients With Hypertension Recruiting NCT03105531
34 Chongqing Primary Aldosteronism Study Recruiting NCT03224312
35 Primary Aldosteronism In Hypertensive Patients in China Recruiting NCT03155139
36 Clinical and Molecular Characteristics of Primary Aldosteronism in Blacks Recruiting NCT03374215
37 Prospective Study Assessing Blood Pressure and Other Outcomes Post-treatment in Patients With Primary Aldosteronism Recruiting NCT03174847 Mineralocorticoid Receptor Antagonists
38 Radiofrequency Ablation for Aldosterone-producting Adenoma in Patients With Primary Aldosteronism Recruiting NCT02756754
39 Primary Aldosteronism in Western Norway Recruiting NCT02832388
40 Glucose Metabolism in Subjects With Aldosterone-Producing Adenomas Recruiting NCT02362308 mineralocorticoid receptor antagonist
41 Renal Sympathetic Denervation From The Adventitia on Hypertension Recruiting NCT02642445
42 Dynamic Hormone Diagnostics in Endocrine Disease Recruiting NCT02934399
43 Plasma Aldosterone Levels and Atrial Fibrillation Reduction (ALDO-AF Study) Recruiting NCT02804321
44 Adrenal Tumors - Pathogenesis and Therapy Recruiting NCT00669266
45 Omics Signature in the Diagnosis of Hypertension Recruiting NCT02772315
46 The Role of Aldosterone on Augmented Exercise Pressor Reflex in Hypertension Recruiting NCT01996449 Eplerenone;Amlodipine
47 11C-Metomidate PET Versus Adrenal Vein Sampling in Primary Aldosteronism Active, not recruiting NCT01567111
48 Laparoscopic Adrenalectomy Versus Radiofrequency Ablation Active, not recruiting NCT02030587
49 Primary Aldosteronism in Malaysia: A Nationwide Multicentre Study Enrolling by invitation NCT02257450
50 IS Metomidate PET-CT Superior to Adrenal Venous Sampling in Predicting Outcome From Adrenalectomy in Patients With Primary Hyperaldosteronism Not yet recruiting NCT02945904

Search NIH Clinical Center for Conn's Syndrome

Inferred drug relations via UMLS 69 / NDF-RT 47 :


Cochrane evidence based reviews: cushing syndrome

Genetic Tests for Conn's Syndrome

Genetic tests related to Conn's Syndrome:

# Genetic test Affiliating Genes
1 Cushing's Syndrome 28 GNAS
2 Hyperaldosteronism 28
3 Primary Hyperaldosteronism 28

Anatomical Context for Conn's Syndrome

MalaCards organs/tissues related to Conn's Syndrome:

38
Adrenal Gland, Pituitary, Skin, Kidney, Testes, Cortex, Adrenal Cortex

Publications for Conn's Syndrome

Articles related to Conn's Syndrome:

(show top 50) (show all 1190)
# Title Authors Year
1
Glucocorticoid-remediable aldosteronism in a young adult with a family history of Conn's syndrome. ( 29445488 )
2018
2
Hypokalemia associated with pseudo-Cushing's syndrome and magnesium deficiency induced by chronic alcohol abuse. ( 29450857 )
2018
3
Ectopic Cushing's syndrome secondary to olfactory neuroblastoma. ( 29340776 )
2018
4
An unusual case of Cushing's syndrome due to bihormonal ACTH-prolactin secreting pituitary macroadenoma with rapid response to cabergoline. ( 28784879 )
2017
5
Diagnosis and Differential Diagnosis of Cushing's Syndrome. ( 28700850 )
2017
6
Ritonavir and Topical Ocular Corticosteroid Induced Cushing's Syndrome in an Adolescent with HIV-1 Infection. ( 28060049 )
2017
7
Body composition in pituitary, adrenal and iatrogenic Cushing's syndrome and effects of DHEAS levels. ( 27696526 )
2017
8
Adrenal Cushing's syndrome during pregnancy. ( 28819015 )
2017
9
Cushing's syndrome managed by endoscopic ultrasound-guided radiofrequency ablation of adrenal gland adenoma. ( 28068682 )
2017
10
Primary bilateral adrenal nodular disease with Cushing's syndrome: varying aetiology. ( 28739615 )
2017
11
Characteristics and Mortality of Pneumocystis Pneumonia in Patients With Cushing's Syndrome: A Plea for Timely Initiation of Chemoprophylaxis. ( 28480275 )
2017
12
Acute mesenteric ischemia and hepatic infarction after treatment of ectopic Cushing's syndrome. ( 28480039 )
2017
13
Psychiatric Symptoms in Patients with Cushing's Syndrome: Prevalence, Diagnosis and Management. ( 28393326 )
2017
14
White matter involvement on DTI-MRI in Cushing's syndrome relates to mood disturbances and processing speed: a case-control study. ( 28332051 )
2017
15
Diagnostic tests for Cushing's syndrome differ from published guidelines: data from ERCUSYN. ( 28377460 )
2017
16
Risk of obstructive sleep apnea among patients with Cushing's syndrome: a nationwide longitudinal study. ( 28735920 )
2017
17
Portal Vein Thrombosis in the Setting of Newly Diagnosed Cushing's Syndrome. ( 28491882 )
2017
18
Exogenous Cushing's syndrome due to a Chinese herbalist's prescription of ointment containing dexamethasone. ( 28432185 )
2017
19
Hypertensive crisis in pregnancy due to a metamorphosing pheochromocytoma with postdelivery Cushing's syndrome. ( 28937294 )
2017
20
Acromegaly and Cushing's syndrome caused by a neuroendocrine tumor arising within a sacrococcygeal teratoma. ( 29152267 )
2017
21
Adrenal GIPR expression and chromosome 19q13 microduplications in GIP-dependent Cushing's syndrome. ( 28931750 )
2017
22
Laparoscopic Adrenalectomy for Conn's Syndrome is Beneficial to Patients and is Cost Effective in England. ( 28498785 )
2017
23
Clobetasol, Acitretin, and Cushing's Syndrome. ( 28297151 )
2017
24
Adrenal myelolipoma(s) as presenting manifestation of subclinical Cushing's disease (eutopic ACTH-dependent Cushing's syndrome). ( 28814582 )
2017
25
Cushing's syndrome secondary to typical pulmonary carcinoid with mutation in BCOR gene: A case report. ( 28834902 )
2017
26
Cushing's syndrome: a practical approach to diagnosis and differential diagnoses. ( 28069628 )
2017
27
Local Injection of Triamcinolone Acetonide: A Forgotten Aetiology of Cushing's Syndrome. ( 28764237 )
2017
28
The importance of recognizing paraneoplastic symptoms: a case report of Neuroendocrine Small Cell Carcinoma of the Endometrium presenting as Paraneoplastic Cushing's Syndrome. ( 29209490 )
2017
29
An approach to screening for Cushing's syndrome in non-specialized health care settings. ( 28895535 )
2017
30
Staged Bilateral Laparoscopic Adrenalectomy for Infantile ACTH-independent Cushing's Syndrome (Bilateral Micronodular Non-pigmented Adrenal Hyperplasia): A Case Report. ( 28853111 )
2017
31
Cushing's Syndrome, Cortisol, and Cognitive Competency: A Case Report. ( 28512418 )
2017
32
Cushing's syndrome in infancy due to ectopic ACTH secretion by a sacro-coccygeal teratoma. ( 28328532 )
2017
33
Diagnosis and Differential Diagnosis of Cushing's Syndrome. ( 28704025 )
2017
34
Extended low-dose dexamethasone suppression test for diagnosis of atypical Cushing's syndrome in dogs. ( 28371654 )
2017
35
Histone Deacetylase Inhibition Ameliorates Hypertension and Hyperglycemia in a model of Cushing's Syndrome. ( 28928236 )
2017
36
Zinc alpha-2 glycoprotein is overproduced in Cushing's syndrome. ( 28440767 )
2017
37
Bronchopulmonary carcinoid with a single lymph node metastasis causing ectopic Cushing's syndrome. ( 28449502 )
2017
38
Intraocular pressure and its correlation with midnight plasma cortisol level in Cushing's disease and other endogenous Cushing's syndrome. ( 28905825 )
2017
39
Cushing's syndrome: a model for sarcopenic obesity. ( 28702888 )
2017
40
Combined dexamethasone and desmopressin test in the differential diagnosis of ACTH-dependent Cushing's syndrome and pseudo-cushing's states. ( 28871364 )
2017
41
Which type 2 diabetes mellitus patients should be screened for subclinical Cushing's syndrome? ( 28500825 )
2017
42
Case of diabetic ketoacidosis as an initial presentation of Cushing's syndrome. ( 28458895 )
2017
43
Diagnosis and Differential Diagnosis of Cushing's Syndrome. ( 28402781 )
2017
44
Affective alterations in patients with Cushing's syndrome in remission are associated with decreased BDNF and cortisone levels. ( 27932530 )
2017
45
Increased prevalence of obstructive sleep apnea in patients with Cushing's syndrome compared with weight- and age-matched controls. ( 27932409 )
2017
46
Body Composition is Different After Surgical or Pharmacological Remission of Cushing's Syndrome: A Prospective DXA Study. ( 28718178 )
2017
47
Peptide Receptor Radionuclide Therapy with (177)Lu-DOTATATE for Metastatic Neuroendocrine Tumor Occurring in Association with Multiple Endocrine Neoplasia Type 1 and Cushing's Syndrome. ( 28553179 )
2017
48
Cushing's Syndrome and Treatment-Resistant Depression. ( 28515565 )
2017
49
Growth hormone deficiency in treated acromegaly and active Cushing's syndrome. ( 28477735 )
2017
50
Cushing's syndrome mutant PKA(L)(205R) exhibits altered substrate specificity. ( 28100013 )
2017

Variations for Conn's Syndrome

ClinVar genetic disease variations for Conn's Syndrome:

6
# 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.602G> A (p.Arg201His) single nucleotide variant Pathogenic/Likely pathogenic rs121913495 GRCh37 Chromosome 20, 57484421: 57484421
3 GNAS NM_000516.5(GNAS): c.601C> A (p.Arg201Ser) single nucleotide variant Pathogenic rs11554273 GRCh37 Chromosome 20, 57484420: 57484420
4 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 62)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1 COSM43678 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.305C>T p.T102I 13
2 COSM45444 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.587G>T p.R196L 13
3 COSM43555 TP53 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.736A>G p.M246V 13
4 COSM225014 RB1 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.1960G>A p.V654M 13
5 COSM26707 PRKAR1A adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.664A>G p.K222E 13
6 COSM26708 PRKAR1A adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.892-1G>A p.? 13
7 COSM4167506 PRKACA adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.617T>G p.L206R 13
8 COSM5885970 PRKACA adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.262C>G p.H88D 13
9 COSM584 NRAS adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.182A>G p.Q61R 13
10 COSM23025 MEN1 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.1654A>T p.T552S 13
11 COSM22568 MEN1 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.325G>T p.E109* 13
12 COSM1684718 KCNJ5 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.503T>G p.L168R 13
13 COSM1684720 KCNJ5 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.451G>C p.G151R 13
14 COSM1684717 KCNJ5 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.451G>A p.G151R 13
15 COSM4745631 KCNJ5 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.737A>G p.E246G 13
16 COSM1717390 KCNJ5 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.433G>C p.E145Q 13
17 COSM4745630 KCNJ5 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.343C>T p.R115W 13
18 COSM5546565 KCNJ5 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.439G>C p.E147Q 13
19 COSM1684719 KCNJ5 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.472A>G p.T158A 13
20 COSM5990170 KCNJ5 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.461T>G p.F154C 13
21 COSM1732665 KCNJ5 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.376T>C p.W126R 13
22 COSM27887 GNAS adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.601C>T p.R201C 13
23 COSM27895 GNAS adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.602G>A p.R201H 13
24 COSM4962873 GNAS adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.679C>G p.Q227E 13
25 COSM27899 GNAS adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.601C>A p.R201S 13
26 COSM5663 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.133T>C p.S45P 13
27 COSM5667 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.134C>T p.S45F 13
28 COSM1423013 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.137T>C p.L46P 13
29 COSM17661 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.130C>G p.P44A 13
30 COSM5988492 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.101G>C p.G34A 13
31 COSM5681 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.95A>G p.D32G 13
32 COSM5677 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.98C>G p.S33C 13
33 COSM5664 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.121A>G p.T41A 13
34 COSM5686 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.100G>A p.G34R 13
35 COSM5692 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.134C>A p.S45Y 13
36 COSM5689 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.134C>G p.S45C 13
37 COSM5678 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.107A>C p.H36P 13
38 COSM5679 CTNNB1 adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.110C>G p.S37C 13
39 COSM2780796 CACNA1D adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.2015C>T p.S672L 13
40 COSM4745616 CACNA1D adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.3003G>C p.K1001N 13
41 COSM1717733 CACNA1D adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.2310C>G p.I770M 13
42 COSM4745615 CACNA1D adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.2996T>A p.V999D 13
43 COSM4745620 CACNA1D adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.3515T>A p.I1172N 13
44 COSM1738073 CACNA1D adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.1207G>C p.G403R 13
45 COSM1738070 CACNA1D adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.2299T>C p.F767L 13
46 COSM4745618 CACNA1D adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.3053C>T p.A1018V 13
47 COSM1738072 CACNA1D adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.2301C>G p.F767L 13
48 COSM4745611 CACNA1D adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.2024T>C p.L675P 13
49 COSM1717766 CACNA1D adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.4112C>G p.P1371R 13
50 COSM4745614 CACNA1D adrenal gland,adrenal gland,adrenal cortical adenoma,NS c.2308A>T p.I770F 13

Expression for Conn's Syndrome

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

Pathways for Conn's Syndrome

Pathways related to Conn's Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Calcium signaling pathway hsa04020
2 Renin secretion hsa04924
3 Aldosterone-regulated sodium reabsorption hsa04960
4 Adrenergic signaling in cardiomyocytes hsa04261

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

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.04 AGTR1 CACNA1H CYP11A1 CYP11B1 CYP11B2 CYP17A1
2 11.87 CRH GNAS MC2R POMC
3 11.67 CACNA1H CRH CYP11A1 CYP11B1 CYP21A2 GNAS
4
Show member pathways
11.65 CYP11A1 MC2R POMC
5
Show member pathways
11.57 AGTR1 CYP11B2 NR3C2 REN
6
Show member pathways
11.55 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 HSD11B2
7 11.47 AGTR1 GNAS REN
8
Show member pathways
11.44 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 HSD11B2
9 11.31 CYP11A1 CYP17A1 GNAS
10
Show member pathways
10.97 CYP11B1 CYP11B2 CYP17A1 CYP21A2
11 10.79 GNAS NR3C1
12 10.3 CRH POMC

GO Terms for Conn's Syndrome

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 female pregnancy GO:0007565 9.78 CRH GNAS HSD11B2 NPPA
2 neuropeptide signaling pathway GO:0007218 9.76 MC2R NPPA POMC
3 regulation of blood pressure GO:0008217 9.76 CYP11B1 NPPA POMC REN
4 cellular response to hormone stimulus GO:0032870 9.72 CACNA1H CYP11B1 CYP11B2
5 positive regulation of cAMP biosynthetic process GO:0030819 9.71 CRH GNAS MC2R
6 steroid biosynthetic process GO:0006694 9.65 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2
7 steroid metabolic process GO:0008202 9.63 CRH CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2
8 C21-steroid hormone biosynthetic process GO:0006700 9.61 CYP11A1 CYP11B1 CYP11B2
9 positive regulation of cAMP-mediated signaling GO:0043950 9.58 CRH GNAS
10 cellular response to potassium ion GO:0035865 9.58 CACNA1H CYP11B1 CYP11B2
11 negative regulation of systemic arterial blood pressure GO:0003085 9.57 CRH NPPA
12 cortisol biosynthetic process GO:0034651 9.54 CACNA1H CYP11B1 CYP11B2
13 renin-angiotensin regulation of aldosterone production GO:0002018 9.52 AGTR1 REN
14 mineralocorticoid biosynthetic process GO:0006705 9.51 CYP11B2 CYP21A2
15 aldosterone biosynthetic process GO:0032342 9.5 CACNA1H CYP11B1 CYP11B2
16 regulation of blood volume by renal aldosterone GO:0002017 9.49 CYP11B2 HSD11B2
17 sterol metabolic process GO:0016125 9.35 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2
18 glucocorticoid biosynthetic process GO:0006704 9.02 CRH CYP11B1 CYP17A1 CYP21A2 HSD11B2
19 oxidation-reduction process GO:0055114 10.03 CYP11A1 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 9.93 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 HSD11B2
2 hormone activity GO:0005179 9.67 CRH NPPA POMC
3 iron ion binding GO:0005506 9.65 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2
4 neuropeptide hormone activity GO:0005184 9.58 CRH NPPA POMC
5 heme binding GO:0020037 9.55 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2
6 insulin-like growth factor receptor binding GO:0005159 9.48 GNAS REN
7 corticotropin-releasing hormone receptor 1 binding GO:0051430 9.43 CRH GNAS
8 corticosterone 18-monooxygenase activity GO:0047783 9.37 CYP11B1 CYP11B2
9 steroid 11-beta-monooxygenase activity GO:0004507 9.32 CYP11B1 CYP11B2
10 steroid binding GO:0005496 9.26 CYP21A2 HSD11B2 NR3C1 NR3C2
11 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.02 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2

Sources for Conn's Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....