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MCID: CNN003
MIFTS: 83

Conn's Syndrome

Categories: Cancer diseases, Endocrine diseases, Rare diseases, Reproductive diseases
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Aliases & Classifications for Conn's Syndrome

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MalaCards integrated aliases for Conn's Syndrome:

Name: Conn's Syndrome 11 75 14 75
Cushing Syndrome 11 19 58 28 53 5 43 16 71 31 33
Hyperaldosteronism 11 75 53 5 43 38 16 71 31 33
Hypercortisolism 19 42 58 28 53 33
Primary Hyperaldosteronism 11 19 14 31 33
Primary Aldosteronism 11 75 5 14 33
Cushing's Syndrome 11 19 52 75 41
Adrenal Gland Hyperfunction 19 75 16 71
Ectopic Acth Syndrome 19 31 33
Hyperadrenocorticism 19 58 33
Cushing Disease 19 42 58
Conn Syndrome 11 71 33
Pituitary Corticotroph Micro-Adenoma 19 58
Pituitary-Dependent Cushing Syndrome 19 58
Corticotroph Pituitary Adenoma 19 58
Pituitary Acth Hypersecretion 42 5
Adrenal Cortex Adenoma 19 5
Acth Syndrome, Ectopic 16 71
Cushing's Disease 19 14
Hyperadrenalism 19 75
Ectopic Acth - [adrenocorticotropic Hormone] Secretion Causing Cushing Syndrome 33
Adrenal Hyperfunction Resulting from Pituitary Acth Excess 19
Primary Aldosteronism Due to Bilateral Adrenal Hyperplasia 33
Ectopic Acth - [adrenocorticotropic Hormone] Secretion 33
Cushing Syndrome Secondary to Ectopic Acth-Secretion 33
Primary Aldosteronism Due to Adrenal Hyperplasia 33
Pituitary-Dependant Hypercortisolism Disorder 42
Ectopic Adrenocorticotropic Hormone Syndrome 19
Hypercortisolism Due to Nonpituitary Tumour 33
Nodular Primary Adrenocortical Dysplasia 19
Pituitary Dependent Cushing Syndrome 19
Pituitary-Dependant Cushing Syndrome 42
Pituitary-Dependant Hypercortisolism 42
Acth-Secreting Pituitary Adenoma 19
Corticoadrenal Hypersecretion 33
Pituitary Cushing Syndrome 42
Adrenal Cushing's Syndrome 71
Adrenal Cortical Adenoma 71
Ectopic Cushing Syndrome 33
Idiopathic Aldosteronism 33
Cortisol Hypersecretion 33
Aldosteronism Primary 53
Acth Syndrome Ectopic 53
Cushing Syndrome Nos 33
Aldosteronism 33

Characteristics:


Inheritance:

Cushing Syndrome: Autosomal dominant 58

Prevelance:

Cushing Syndrome: 1-9/100000 (Europe, Spain, New Zealand, Worldwide) 1-9/1000000 (Europe, Denmark, Spain, New Zealand) <1/1000000 (Italy) 58
Cushing Disease: 1-9/100000 (Europe) 58

Age Of Onset:

Cushing Syndrome: All ages 58
Cushing Disease: Adult 58

Classifications:

MalaCards categories:
Global: Rare diseases Cancer diseases
Anatomical: Endocrine diseases Reproductive diseases
See all MalaCards categories (disease lists)
ICD10: 31 32
ICD11: 33
Orphanet: 58  
Rare infertility disorders
Rare endocrine diseases


Sources

Summaries for Conn's Syndrome

About this section

MedlinePlus Genetics: 42 Cushing disease is caused by elevated levels of a hormone called cortisol, which leads to a wide variety of signs and symptoms. This condition usually occurs in adults between the ages of 20 and 50; however, children may also be affected. The first sign of this condition is usually weight gain around the trunk and in the face. Affected individuals may get stretch marks (striae) on their thighs and abdomen and bruise easily. Individuals with Cushing disease can develop a hump on their upper back caused by abnormal deposits of fat. People with this condition can have muscle weakness, severe tiredness, and progressively thin and brittle bones that are prone to fracture (osteoporosis). They also have a weakened immune system and are at an increased risk of infections. Cushing disease can cause mood disorders such as anxiety, irritability, and depression. This condition can also affect a person's concentration and memory. People with Cushing disease have an increased chance of developing high blood pressure (hypertension) and diabetes. Women with Cushing disease may experience irregular menstruation and have excessive hair growth (hirsutism) on their face, abdomen, and legs. Men with Cushing disease may have erectile dysfunction. Children with Cushing disease typically experience slow growth.

MalaCards based summary: Conn's Syndrome, also known as cushing syndrome, is related to ectopic cushing syndrome and adrenal cortical adenoma, and has symptoms including cushingoid facies An important gene associated with Conn's Syndrome is USP8 (Ubiquitin Specific Peptidase 8), and among its related pathways/superpathways are Signal Transduction and Disease. The drugs Bromocriptine and Metformin have been mentioned in the context of this disorder. Affiliated tissues include pituitary, adrenal gland and adrenal cortex, and related phenotypes are increased circulating cortisol level and paradoxical increased cortisol secretion on dexamethasone suppression test

NINDS: 52 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.

MedlinePlus: 41 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

GARD: 19 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). 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.

Orphanet 58 Cushing syndrome: Cushing's syndrome (CS) encompasses a group of hormonal disorders caused by prolonged and high exposure levels to glucocorticoids that can be of either endogenous (adrenal cortex production) or exogenous (iatrogenic) origin.

Cushing disease: Cushing disease (CD) is the most common cause of endogenous Cushing syndrome (CS; see this term) and is due to pituitary chronic over-secretion of ACTH by a pituitary corticotroph adenoma.

Disease Ontology 11 Conn's syndrome: An adrenal adenoma characterized by the over production of aldosterone.

Primary hyperaldosteronism: An adrenal gland hyperfunction disease that results in the overproduction of aldosterone by the adrenal glands.

Wikipedia 75 Conn's syndrome: Primary aldosteronism (PA), also known as primary hyperaldosteronism or Conn's syndrome, refers to the... more...

Adrenal gland hyperfunction: Adrenocortical hyperfunction is a condition where there is an overexpression of products of the adrenal... more...

Cushing's syndrome: Cushing's syndrome is a collection of signs and symptoms due to prolonged exposure to glucocorticoids... more...

Hyperaldosteronism: Hyperaldosteronism is a medical condition wherein too much aldosterone is produced by the adrenal... 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 1344)
# Related Disease Score Top Affiliating Genes
1 ectopic cushing syndrome 33.3 SST POMC NR3C1 CRH
2 adrenal cortical adenoma 32.7 REN PRKAR1A POMC MEN1 CYP21A2 CYP17A1
3 acth-secreting pituitary adenoma 32.6 USP8 USP48 SST PRKAR1A POMC NR3C1
4 adenoma 32.1 USP8 TP53 SST REN PRKAR1A POMC
5 adrenal adenoma 32.0 REN PRKAR1A POMC NR3C2 MEN1 GNAS
6 hypokalemia 32.0 REN POMC NR3C2 NR3C1 CYP17A1 CYP11B2
7 apnea, obstructive sleep 31.7 REN POMC NR3C2
8 hypertension, essential 31.6 TP53 SST REN POMC NR3C2 NR3C1
9 lipid metabolism disorder 31.6 REN POMC CYP21A2 CYP17A1 CYP11B1
10 type 2 diabetes mellitus 31.5 TP53 SST REN POMC NR3C2 NR3C1
11 diabetes mellitus 31.5 TP53 SST REN POMC NR3C2 NR3C1
12 carcinoid tumors, intestinal 31.5 SST MEN1
13 pheochromocytoma 31.4 SST REN POMC MEN1 CRH ATRX
14 liddle syndrome 1 31.4 REN POMC NR3C2 NR3C1 CYP11B2 CYP11B1
15 adrenal cortical carcinoma 31.4 TP53 REN PRKAR1A POMC MEN1 GNAS
16 pancreatic endocrine carcinoma 31.4 SST POMC MEN1 ATRX
17 pituitary tumors 31.4 SST MEN1 GNAS
18 acth-independent macronodular adrenal hyperplasia 31.3 PRKAR1A POMC MEN1 GNAS CYP11B2 CYP11B1
19 islet cell tumor 31.3 SST POMC MEN1 ATRX
20 thyroid carcinoma, familial medullary 31.3 SST PRKAR1A MEN1 BRAF
21 small cell cancer of the lung 31.3 TP53 SST POMC
22 mood disorder 31.3 POMC NR3C2 NR3C1 CRH
23 amenorrhea 31.3 POMC CYP17A1 CRH
24 pituitary adenoma 4, acth-secreting 31.2 USP8 GNAI2
25 pituitary gland disease 31.2 USP8 SST PRKAR1A POMC MEN1 GNAS
26 multiple endocrine neoplasia 31.1 SST PRKAR1A POMC MEN1 GNAS
27 apparent mineralocorticoid excess 31.1 REN POMC NR3C2 CYP11B2 CYP11B1
28 acne 31.1 POMC CYP21A2 CYP17A1 CRH
29 thyroid gland medullary carcinoma 31.1 SST POMC MEN1
30 pituitary-dependent cushing's disease 31.1 USP8 USP48 SST POMC NR3C1 CRH
31 gastrinoma 31.1 SST POMC MEN1
32 premature ovarian failure 7 31.1 POMC CRH
33 hypoadrenocorticism, familial 31.1 REN POMC CYP21A2 CYP17A1 CYP11B2 CRH
34 hypothyroidism 31.0 SST REN POMC GNAS BRAF
35 hypoaldosteronism 31.0 REN POMC CYP11B2
36 lipoid congenital adrenal hyperplasia 31.0 REN POMC NR3C2 NR3C1 CYP21A2 CYP17A1
37 pituitary adenoma 31.0 USP8 SST PRKAR1A POMC NR3C1 MEN1
38 meningioma, familial 30.9 TP53 SST PRKAR1A POMC MEN1 ATRX
39 prolactinoma 30.9 SST PRKAR1A POMC MEN1 GNAS
40 paraganglioma 30.9 SST REN POMC MEN1 ATRX
41 thyroid gland cancer 30.9 TP53 SST POMC MEN1 BRAF
42 nelson syndrome 30.9 USP8 USP48 SST POMC NR3C1 CRH
43 multiple endocrine neoplasia, type i 30.9 SST PRKAR1A POMC MEN1 GNAS ATRX
44 beckwith-wiedemann syndrome 30.9 TP53 PRKAR1A MEN1 GNAS
45 adrenal carcinoma 30.9 TP53 SST REN PRKAR1A POMC NR3C2
46 functioning pituitary adenoma 30.9 USP8 USP48 SST PRKAR1A POMC MEN1
47 basophil adenoma 30.9 PRKAR1A POMC GNAS
48 hypertensive heart disease 30.9 REN NR3C2 CYP11B2
49 hyperaldosteronism, familial, type i 30.9 REN POMC NR3C2 NR3C1 CYP21A2 CYP17A1
50 mediastinal lipomatosis 30.9 POMC NR3C1 CRH

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


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

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



Diseases related to Conn's Syndrome
Sources

Symptoms & Phenotypes for Conn's Syndrome

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Human phenotypes related to Conn's Syndrome:

58 30 (show top 50) (show all 64)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 increased circulating cortisol level 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0003118
2 paradoxical increased cortisol secretion on dexamethasone suppression test 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0003466
3 increased urinary cortisol level 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0012030
4 pituitary corticotropic cell adenoma 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0008291
5 emotional lability 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000712
6 diabetes mellitus 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000819
7 hypertension 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000822
8 immunodeficiency 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002721
9 acne 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001061
10 osteoporosis 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000939
11 striae distensae 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001065
12 lymphopenia 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001888
13 bruising susceptibility 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000978
14 truncal obesity 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001956
15 hirsutism 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001007
16 leukocytosis 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001974
17 thin skin 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000963
18 adrenal hyperplasia 58 30 Frequent (33%) Frequent (79-30%)
 HP:0008221
19 poor wound healing 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001058
20 hyperpigmentation of the skin 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000953
21 increased circulating acth level 58 30 Frequent (33%) Frequent (79-30%)
 HP:0003154
22 fatiguable weakness of proximal limb muscles 58 30 Frequent (33%) Frequent (79-30%)
 HP:0030200
23 plethora 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001050
24 proximal amyotrophy 58 30 Frequent (33%) Frequent (79-30%)
 HP:0007126
25 intra-oral hyperpigmentation 58 30 Frequent (33%) Frequent (79-30%)
 HP:0010284
26 abdominal obesity 58 30 Frequent (33%) Frequent (79-30%)
 HP:0012743
27 capillary fragility 58 30 Frequent (33%) Frequent (79-30%)
 HP:0025017
28 dorsocervical fat pad 58 30 Frequent (33%) Frequent (79-30%)
 HP:0025383
29 decreased eosinophil count 58 30 Frequent (33%) Frequent (79-30%)
 HP:0031891
30 moon facies 58 30 Frequent (33%) Frequent (79-30%)
 HP:0500011
31 impaired glucose tolerance 58 30 Frequent (33%) Frequent (79-30%)
 HP:0040270
32 depression 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000716
33 secondary amenorrhea 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000869
34 myocardial infarction 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001658
35 skin ulcer 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0200042
36 sparse scalp hair 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002209
37 stroke 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001297
38 headache 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002315
39 memory impairment 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002354
40 abnormality of the respiratory system 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002086
41 large sella turcica 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002690
42 ecchymosis 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0031364
43 abnormal libido 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0031845
44 psychotic episodes 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000725
45 oligomenorrhea 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000876
46 recurrent cutaneous fungal infections 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0011370
47 flushing 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0031284
48 suicidal ideation 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0031589
49 vertebral compression fracture 30 Occasional (7.5%) HP:0002953
50 avascular necrosis 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0010885

UMLS symptoms related to Conn's Syndrome:


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 no effect GR00402-S-1 10.2 ATRX BRAF CACNA1H CRH CYP11B1 CYP11B2
2 no effect GR00402-S-2 10.2 ATRX BRAF CACNA1H CRH CYP11B1 CYP17A1
3 Reduced mammosphere formation GR00396-S 9.65 ATRX BRAF CYP11B1 CYP21A2 GNAI2 GNAS

MGI Mouse Phenotypes related to Conn's Syndrome:

45 (show all 20)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.49 ATRX BRAF CACNA1H CRH CYP11B1 CYP11B2
2 nervous system MP:0003631 10.45 ATRX BRAF CACNA1H CRH CYP11B1 CYP11B2
3 homeostasis/metabolism MP:0005376 10.43 BRAF CRH CYP11B1 CYP11B2 CYP17A1 GNAI2
4 behavior/neurological MP:0005386 10.36 ATRX BRAF CACNA1H CRH CYP11B1 CYP11B2
5 cardiovascular system MP:0005385 10.34 ATRX BRAF CACNA1H CYP11B1 CYP11B2 CYP17A1
6 liver/biliary system MP:0005370 10.33 BRAF CRH CYP11B1 CYP11B2 GNAI2 GNAS
7 cellular MP:0005384 10.33 ATRX BRAF CRH CYP11B1 CYP11B2 CYP17A1
8 renal/urinary system MP:0005367 10.31 BRAF CRH CYP11B1 CYP11B2 GNAS NR3C1
9 muscle MP:0005369 10.3 BRAF CACNA1H CYP11B1 CYP11B2 GNAS MEN1
10 normal MP:0002873 10.28 BRAF CRH GNAI2 GNAS MEN1 NR3C1
11 adipose tissue MP:0005375 10.28 BRAF CRH CYP11B1 CYP11B2 CYP17A1 GNAS
12 endocrine/exocrine gland MP:0005379 10.24 BRAF CRH CYP11B1 CYP11B2 GNAI2 GNAS
13 immune system MP:0005387 10.21 BRAF CRH CYP11B1 CYP11B2 CYP21A2 GNAI2
14 neoplasm MP:0002006 10.14 BRAF GNAI2 GNAS MEN1 POMC PRKAR1A
15 digestive/alimentary MP:0005381 10.08 BRAF GNAI2 GNAS MEN1 NR3C1 PRKAR1A
16 respiratory system MP:0005388 9.97 BRAF CACNA1H CRH GNAI2 GNAS MEN1
17 reproductive system MP:0005389 9.96 ATRX BRAF CYP11B1 CYP11B2 CYP17A1 MEN1
18 skeleton MP:0005390 9.9 BRAF CACNA1H CRH CYP17A1 GNAI2 GNAS
19 hematopoietic system MP:0005397 9.77 BRAF CRH CYP11B1 CYP11B2 CYP21A2 GNAI2
20 mortality/aging MP:0010768 9.55 ATRX BRAF CYP11B1 CYP11B2 CYP17A1 CYP21A2
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 292)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bromocriptine Approved, Investigational, Withdrawn Phase 4 25614-03-3 31101
2
Metformin Approved Phase 4 1115-70-4, 657-24-9 4091
3
Losartan Approved Phase 4 114798-26-4 3961
4
Angiotensin II Approved, Investigational Phase 4 68521-88-0, 11128-99-7, 4474-91-3 172198
5
Captopril Approved Phase 4 62571-86-2 44093
6
Liraglutide Approved Phase 4 204656-20-2 44147092 16134956
7
Nutmeg Approved Phase 4
8
Amlodipine Approved Phase 4 88150-42-9 2162
9
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
10
Somatostatin Approved, Investigational Phase 4 38916-34-6, 51110-01-1 53481605 16129706
11
Pasireotide Approved Phase 4 396091-73-9 56841596 9941444
12
Lactitol Approved, Investigational Phase 4 585-86-4 157355
13
Cabergoline Approved Phase 4 81409-90-7 54746
14
Eplerenone Approved Phase 4 107724-20-9 443872
15 Insulin, Globin Zinc Phase 4
16
Insulin Phase 4
17 HIV Protease Inhibitors Phase 4
18
protease inhibitors Phase 4
19 Anti-Arrhythmia Agents Phase 4
20
Angiotensinogen Phase 4 16133225
21 Angiotensin-Converting Enzyme Inhibitors Phase 4
22 Angiotensin Receptor Antagonists Phase 4
23 Angiotensin II Type 1 Receptor Blockers Phase 4
24 Giapreza Phase 4
25 Kallikreins Phase 4
26
Sitagliptin Phosphate Phase 4 654671-77-9
27 Dipeptidyl-Peptidase IV Inhibitors Phase 4
28 Incretins Phase 4
29 Calcium, Dietary Phase 4
30 Vasodilator Agents Phase 4
31 Mace Phase 4
32 calcium channel blockers Phase 4
33 Hormones Phase 4
34 Hormone Antagonists Phase 4
35 Dopamine Agents Phase 4
36 Dopamine agonists Phase 4
37 Antiparkinson Agents Phase 4
38 Mineralocorticoids Phase 4
39 Diuretics, Potassium Sparing Phase 4
40 diuretics Phase 4
41 Mineralocorticoid Receptor Antagonists Phase 4
42 Antihypertensive Agents Phase 4
43
Calcium Nutraceutical Phase 4 7440-70-2 271
44
Terazosin Approved Phase 3 63590-64-7 5401
45
Licorice Approved Phase 2, Phase 3
46
Ketoconazole Approved, Investigational Phase 3 65277-42-1, 142128-57-2 47576 3823 638701
47
Diphenhydramine Approved, Investigational Phase 2, Phase 3 147-24-0, 58-73-1 3100
48
Promethazine Approved, Investigational Phase 2, Phase 3 60-87-7 4927
49
Ethanol Approved Phase 2, Phase 3 64-17-5 702
50
Suvorexant Approved, Investigational Phase 2, Phase 3 1030377-33-3 57505028 24965990

Interventional clinical trials:

(show top 50) (show all 236)
# Name Status NCT ID Phase Drugs
1 The Therapeutic Effect of Bromocriptin in Patients With Primary Aldosteronism Unknown status NCT00451672 Phase 4 bromocriptine
2 Does Aldosterone Cause Hypertension by a Non-Renal Mechanism? Unknown status NCT00553722 Phase 4 Eplerenone;Placebo
3 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
4 Randomized Clinical Trial of Posterior Retroperitoneoscopic Adrenalectomy Versus Lateral Transperitoneal Laparoscopic Adrenalectomy With a Five-year Follow-up Completed NCT01959711 Phase 4
5 Glucocorticoid Receptor Blockade With Mifepristone in Patients With Mild Adrenal Hypercortisolism Completed NCT01990560 Phase 4 Mifepristone
6 Kallikrein-kinin (KKS) and Renin-angiotensin-aldosterone System (RAAS) in Primary Aldosteronism Completed NCT00155064 Phase 4 captopril, Losartan (drug)
7 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
8 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
9 An Oral GnRH Antagonist to Treat Mild Autonomous Cortisol Excess (MACE) Due to Adrenal Adenomas in Postmenopausal Women Recruiting NCT05038878 Phase 4 Elagolix
10 Role of LSD1 in Hypertension in Blacks Recruiting NCT04840342 Phase 4 Eplerenone;Amlodipine
11 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
12 Cardiovascular Manifestations of MR Activation in Primary Aldosteronism: Pilot Clinical Study Not yet recruiting NCT05030545 Phase 4 Eplerenone
13 Adrenal Artery Ablation for Primary Aldosteronism：A Randomized, Parallel, Active-controlled Clinical Trial to Evaluate the Efficacy and Safety of Adrenal Artery Ablation（AAA）in the Treatment of Primary Aldosteronism Unknown status NCT03653845 Phase 3 Sequenced antihypertensvie drugs with titrated dosage
14 An Open Label Study to Assess the Safety and Efficacy of COR-003 (Levoketoconazole) in the Treatment of Endogenous Cushing's Syndrome Completed NCT01838551 Phase 3 Levoketoconazole
15 Prospective, Single Arm, Open-label, Multicenter, International Study to Assess the Effects of Metyrapone in Patients With Endogenous Cushing's Syndrome During a 12-week Treatment Period Followed by an Extension Period of 24 Weeks Completed NCT02297945 Phase 3 metyrapone
16 A Double-blind, Placebo-Controlled, Randomized Withdrawal Following Open Label Therapy Study to Assess the Safety and Efficacy of Levoketoconazole (2S, 4R-ketoconazole) in the Treatment of Endogenous Cushing's Syndrome Completed NCT03277690 Phase 3 Levoketoconazole;Placebo
17 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
18 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
19 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
20 Towards Cost-effective Management of Patients With Hypertension Due to Primary Aldosteronism: Adrenal Vein Sampling or Ct-scan? Completed NCT01096654 Phase 3
21 The Role of Mineralocorticoid Receptors in Vascular Function Completed NCT00759525 Phase 2, Phase 3 Glycyrrhetic Acid;Placebo
22 An Open-label, Prospective, Controlled Clinical Trial on Effects and Safety of Adrenal Artery Ablation (Triple A) for Primary Aldosteronism Completed NCT03398785 Phase 3
23 Prevention of Metabolic Complications of Glucocorticoid Excess - a Randomised, Doubleblind,Placebo Controlled Study Completed NCT01319994 Phase 2, Phase 3 Metformin;Placebo
24 A Phase III, Multi-center, Randomized, Double-blind, 48 Week Study With an Initial 12 Week Placebo-controlled Period to Evaluate the Safety and Efficacy of Osilodrostat in Patients With Cushing's Disease Completed NCT02697734 Phase 3 osilodrostat;osilodrostat Placebo
25 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
26 Study of Cabergoline in Treatment of Corticotroph Pituitary Tumor Completed NCT00889525 Phase 3 Cabergoline
27 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
28 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
29 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
30 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
31 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
32 An Open-label Extension Study of Levoketoconazole (2S,4R-ketoconazole) in the Treatment of Endogenous Cushing's Syndrome Active, not recruiting NCT03621280 Phase 3 Levoketoconazole
33 The Efficacy of Suvorexant in the Residential Treatment of Patients With Substance Use Disorder and Insomnia: A Pilot Open Trial Enrolling by invitation NCT03412591 Phase 2, Phase 3 Suvorexant 20 mg
34 An Open-label Study of the Safety, Pharmacokinetics and Pharmacodynamics of Mifepristone in Children With Refractory Cushing's Disease Withdrawn NCT01925092 Phase 3 mifepristone
35 Activity of Abiraterone Acetate in the Management of Cushing's Syndrome in Patients With Adrenocortical Carcinoma Unknown status NCT03145285 Phase 2 Abiraterone Acetate
36 Study on New Insights in Remodeling of Endocrine Cardiomyopathies: Intramyocardial, Molecular and Neuroendocrine Assessment in Response to Chronic Inhibition of Cyclic GMP Phosphodiesterase 5A in Cushing's Syndrome Unknown status NCT02611258 Phase 2 Tadalafil
37 Preoperative Bexarotene Treatment for Cushing's Disease Unknown status NCT00845351 Phase 1, Phase 2 Bexarotene
38 Targeted Therapy With Gefitinib in Patients With USP8-mutated Cushing's Disease Unknown status NCT02484755 Phase 2 Gefitinib
39 New Imaging Modalities in the Evaluation of Patients With Ectopic Cushing's Syndrome Completed NCT00001849 Phase 2 Pentetreotide;18F-DOPA;18-FDG
40 Targeting Iatrogenic Cushing's Syndrome With 11β-hydroxysteroid Dehydrogenase Type 1 Inhibition (TICSI) Completed NCT03111810 Phase 2 AZD4017 and prednisolone;Placebo Oral Tablet and prednisolone
41 A Multicenter, Open Label Study to Assess the Safety and Efficacy of 600 µg SOM230, Administered Subcutaneously, b.i.d. in Patients With Cushing's Disease Completed NCT00088608 Phase 2 SOM230 s.c.
42 A Phase II, Open-label, Dose Titration, Multi-center Study to Assess the Safety/Tolerability and Efficacy of Osilodrostat in Patients With All Types of Endogenous Cushing's Syndrome Except Cushing's Disease Completed NCT02468193 Phase 2 Osilodrostat
43 Phase 2 Study of the Safety and Efficacy of CORT125134 in the Treatment of Endogenous Cushing's Syndrome Completed NCT02804750 Phase 2 CORT125134
44 A Pilot, Single-blind, Forced-titration Study to Assess the Hemodynamic and Hormonal Effects, Safety and Tolerability of the Aldosterone Synthase Inhibitor LCI699 in Patients With Primary Hyperaldosteronism Completed NCT00732771 Phase 2 LCI699
45 Open-label Study on Treatment of Primary Aldosteronism With Everolimus Completed NCT03174171 Phase 2 Everolimus 0.75 mg
46 DP13 - A Phase II Study in Patients With Primary Aldosteronism to Evaluate the Efficacy, Safety and Tolerability of DP13, Over an 8-week Treatment Period Completed NCT04007406 Phase 2 DP13
47 Extension to a Multicenter, Open-label Study to Assess the Safety and Efficacy of 600 μg SOM230, Administered Subcutaneously, Bid in Patients With Cushing's Disease Completed NCT00171951 Phase 2 Pasireotide
48 A Proof of Concept, Open-label, Forced Titration, Multi-center Study to Assess the Safety/Tolerability and Efficacy of 10-weeks Treatment of LCI699 in Patients With Cushing's Disease Completed NCT01331239 Phase 2 LCI699
49 SPI-62 as a Treatment for Hypercortisolism Related to a Benign Adrenal Tumor Recruiting NCT05436639 Phase 2 SPI-62 dose1;SPI-62 dose 2;SPI-62 dose 3;SPI-62 dose 4;Placebo
50 Evaluation of 68Ga-DOTATATE PET/CT, Octreotide and F-DOPA PET Imaging in Patients With Ectopic Cushing Syndrome Recruiting NCT02019706 Phase 2 68Ga-DOTATATE;18F-DOPA

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 Syndrome 28
2 Hypercortisolism 28
Sources

Anatomical Context for Conn's Syndrome

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Organs/tissues related to Conn's Syndrome:

MalaCards : Pituitary, Adrenal Gland, Adrenal Cortex, Cortex, Skin, Kidney, Heart
Sources

Publications for Conn's Syndrome

About this section

Articles related to Conn's Syndrome:

(show top 50) (show all 23285)
# Title Authors PMID Year
1
Cushing's syndrome secondary to adrenocorticotropin-independent macronodular adrenocortical hyperplasia due to activating mutations of GNAS1 gene. 53 62 5
12727968 2003
2
The Gene of the Ubiquitin-Specific Protease 8 Is Frequently Mutated in Adenomas Causing Cushing's Disease. 62 5
25942478 2015
3
Recurrent gain-of-function USP8 mutations in Cushing's disease. 62 5
25675982 2015
4
Recurrent somatic mutations underlie corticotropin-independent Cushing's syndrome. 62 5
24855271 2014
5
Thyroid carcinoma in the McCune-Albright syndrome: contributory role of activating Gs alpha mutations. 62 5
12970318 2003
6
MEN I gene mutations in sporadic adrenal adenomas. 62 5
10647896 1999
7
Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome. 62 5
1594625 1992
8
Relationship between osteoporosis and Cushing syndrome based on bioinformatics. 62 41
36316863 2022
9
Outcome of CRH stimulation test and overnight 8 mg dexamethasone suppression test in 469 patients with ACTH-dependent Cushing's syndrome. 62 41
36277711 2022
10
Evaluation of ketoconazole as a treatment for Cushing's disease in a retrospective cohort. 62 41
36277689 2022
11
Activating mutations of the stimulatory g protein in juvenile ovarian granulosa cell tumors: a new prognostic factor? 5
16507630 2006
12
Activating mutation of the stimulatory G protein (gsp) as a putative cause of ovarian and testicular human stromal Leydig cell tumors. 5
9626141 1998
13
Polymerase chain reaction-based technique for the selective enrichment and analysis of mosaic arg201 mutations in G alpha s from patients with fibrous dysplasia of bone. 5
9267696 1997
14
Characteristics of gsp-positive growth hormone-secreting pituitary tumors in Korean acromegalic patients. 5
8766942 1996
15
Increased expression of the c-fos proto-oncogene in bone from patients with fibrous dysplasia. 5
7739708 1995
16
G-protein mutations in human pituitary adrenocorticotrophic hormone-secreting adenomas. 5
7737262 1995
17
Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. 5
1944469 1991
18
GTPase inhibiting mutations activate the alpha chain of Gs and stimulate adenylyl cyclase in human pituitary tumours. 5
2549426 1989
19
The McCune-Albright syndrome: a lethal gene surviving by mosaicism. 5
3720010 1986
20
Aldosterone to renin ratio--a reliable screening tool for primary aldosteronism? 53 62
20225167 2010
21
Aberrant hormone receptors in primary aldosteronism. 53 62
20503136 2010
22
Inferior petrosal sinus ACTH and prolactin responses to CRH in ACTH-dependent Cushing's syndrome: a single centre experience from the United Kingdom. 53 62
19768550 2010
23
A screening procedure for primary aldosteronism based on the Diasorin Liaison automated chemiluminescent immunoassay for direct renin. 53 62
20392751 2010
24
Diagnosis of primary aldosteronism: comparison of post-captopril active renin concentration and plasma renin activity. 53 62
20117105 2010
25
Laboratory investigation of primary aldosteronism. 53 62
20498828 2010
26
Polymorphisms in CYP11B2 and CYP11B1 genes associated with primary hyperaldosteronism. 53 62
20339375 2010
27
Adrenocortical zonation in humans under normal and pathological conditions. 53 62
20200334 2010
28
First report of ectopic ACTH syndrome and PTHrP-induced hypercalcemia due to a hepatoblastoma in a child. 53 62
20133447 2010
29
Familial micronodular adrenocortical disease, Cushing syndrome, and mutations of the gene encoding phosphodiesterase 11A4 (PDE11A). 53 62
20351491 2010
30
Aldosterone antisecretagogue and antihypertensive actions of adrenomedullin in patients with primary aldosteronism. 53 62
20150911 2010
31
Assessment of serum-free cortisol levels in patients with adrenocortical carcinoma treated with mitotane: a pilot study. 53 62
19473175 2010
32
A novel PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease and the Carney complex. 53 62
19833579 2010
33
Glucocorticoid receptor over-expression promotes human small cell lung cancer apoptosis in vivo and thereby slows tumor growth. 53 62
20015838 2010
34
[The postanalytical stage of clinical biochemistry. Pathogenetic bases of the classification of arterial hypertension]. 53 62
20401992 2010
35
Identification and functional analysis of novel mutations of the CLCNKB gene in Chinese patients with classic Bartter syndrome. 53 62
19807735 2010
36
Small-cell carcinoma of the endometrium presenting as Cushing's syndrome. 53 62
19834252 2010
37
Cushing syndrome in a young woman due to primary pigmented nodular adrenal disease. 53 62
19703806 2010
38
Familial isolated primary pigmented nodular adrenocortical disease associated with a novel low penetrance PRKAR1A gene splice site mutation. 53 62
20190548 2010
39
Association of the M1V PRKAR1A mutation with primary pigmented nodular adrenocortical disease in two large families. 53 62
19915019 2010
40
Within-patient reproducibility of the aldosterone: renin ratio in primary aldosteronism. 53 62
19933925 2010
41
Effects of female sex hormones and contraceptive pill on the diagnostic work-up for primary aldosteronism. 53 62
19952782 2010
42
Persistent increase of osteoprotegerin levels after cortisol normalization in patients with Cushing's syndrome. 53 62
19793762 2010
43
Juxtaglomerular cell tumor of the kidney--a new classification scheme. 53 62
19914097 2010
44
Characterization of a novel non-steroidal glucocorticoid receptor antagonist. 53 62
20035723 2010
45
Synaptophysin immunoreactivity in adrenocortical adenomas: a correlation between synaptophysin and CYP17A1 expression. 53 62
19755404 2009
46
Pre-analytical and analytical considerations for the determination of plasma renin activity. 53 62
19766575 2009
47
Cushing's syndrome associated with a nested stromal epithelial tumor of the liver: hormonal, immunohistochemical, and molecular studies. 53 62
19690085 2009
48
Familial and phenotypic associations of the aldosterone Renin ratio. 53 62
19820005 2009
49
Increased ratio of mRNA expression of the genes CYP17 and CYP11B1 indicates autonomous cortisol production in adrenocortical tumors. 53 62
19564722 2009
50
Mineralocorticoid and glucocorticoid receptors stimulate epithelial sodium channel activity in a mouse model of Cushing syndrome. 53 62
19635986 2009
Sources

Variations for Conn's Syndrome

About this section

ClinVar genetic disease variations for Conn's Syndrome:

5 (show all 21)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GNAS NM_000516.5:c.(?_-424)_(257_?)dup DUP Pathogenic
 987921 GRCh37:
GRCh38:
2 GNAS NM_000516.7(GNAS):c.1A>G (p.Met1Val) SNV Pathogenic
 15927 rs137854530 GRCh37: 20:57466782-57466782
GRCh38: 20:58891727-58891727
3 GNAS NM_000516.7(GNAS):c.85C>T (p.Gln29Ter) SNV Pathogenic
 374113 rs1057518907 GRCh37: 20:57466866-57466866
GRCh38: 20:58891811-58891811
4 MEN1 NM_001370259.2(MEN1):c.1654A>T (p.Thr552Ser) SNV Pathogenic
 16698 rs121913035 GRCh37: 11:64571985-64571985
GRCh38: 11:64804513-64804513
5 GNAS NM_000516.7(GNAS):c.602G>A (p.Arg201His) SNV Pathogenic
 15934 rs121913495 GRCh37: 20:57484421-57484421
GRCh38: 20:58909366-58909366
6 GNAS NM_000516.7(GNAS):c.601C>A (p.Arg201Ser) SNV Pathogenic
 15937 rs11554273 GRCh37: 20:57484420-57484420
GRCh38: 20:58909365-58909365
7 GNAS NM_000516.7(GNAS):c.601C>T (p.Arg201Cys) SNV Pathogenic
 15933 rs11554273 GRCh37: 20:57484420-57484420
GRCh38: 20:58909365-58909365
8 USP8 NM_005154.5(USP8):c.2159C>G (p.Pro720Arg) SNV Pathogenic
 161995 rs672601311 GRCh37: 15:50782647-50782647
GRCh38: 15:50490450-50490450
9 USP8 NM_005154.5(USP8):c.2138T>G (p.Leu713Arg) SNV Pathogenic
 161994 rs672601309 GRCh37: 15:50782626-50782626
GRCh38: 15:50490429-50490429
10 USP8 NM_005154.5(USP8):c.2153C>G (p.Ser718Cys) SNV Pathogenic
 161993 rs672601308 GRCh37: 15:50782641-50782641
GRCh38: 15:50490444-50490444
11 USP8 NM_005154.5(USP8):c.2152T>C (p.Ser718Pro) SNV Pathogenic
 161992 rs672601307 GRCh37: 15:50782640-50782640
GRCh38: 15:50490443-50490443
12 USP8 NM_005154.5(USP8):c.2152TCC[1] (p.Ser719del) MICROSAT Pathogenic
 161991 rs672601306 GRCh37: 15:50782639-50782641
GRCh38: 15:50490442-50490444
13 GNAI2 NM_002070.4(GNAI2):c.535C>G (p.Arg179Gly) SNV Pathogenic
 15905 rs137853226 GRCh37: 3:50293694-50293694
GRCh38: 3:50256262-50256262
14 CACNA1H NM_021098.3(CACNA1H):c.4645A>G (p.Met1549Val) SNV Pathogenic
 189779 rs786205050 GRCh37: 16:1262024-1262024
GRCh38: 16:1212024-1212024
15 CACNA1H NM_021098.3(CACNA1H):c.5809G>A (p.Val1937Met) SNV Likely Pathogenic
 279726 rs60040113 GRCh37: 16:1268573-1268573
GRCh38: 16:1218573-1218573
16 GNAS NM_016592.5(GNAS):c.*42+13579C>A SNV Uncertain Significance
 417934 rs908810796 GRCh37: 20:57429520-57429520
GRCh38: 20:58854465-58854465
17 GNAS NM_016592.5(GNAS):c.*42+13834C>A SNV Uncertain Significance
 417936 rs55890501 GRCh37: 20:57429775-57429775
GRCh38: 20:58854720-58854720
18 AIP NM_003977.4(AIP):c.26G>A (p.Arg9Gln) SNV Uncertain Significance
 485052 rs139459091 GRCh37: 11:67250655-67250655
GRCh38: 11:67483184-67483184
19 AIP NM_003977.4(AIP):c.827C>T (p.Ala276Val) SNV Uncertain Significance
 485056 rs61741147 GRCh37: 11:67258298-67258298
GRCh38: 11:67490827-67490827
20 CACNA1H NM_021098.3(CACNA1H):c.4714C>T (p.Arg1572Trp) SNV Benign
 783259 rs199693105 GRCh37: 16:1262093-1262093
GRCh38: 16:1212093-1212093
21 AIP NM_003977.4(AIP):c.911G>A (p.Arg304Gln) SNV Not Provided
 4893 rs104894190 GRCh37: 11:67258382-67258382
GRCh38: 11:67490911-67490911

Cosmic variations for Conn's Syndrome:

8 (show top 50) (show all 971)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)		 Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM86624499 RB1 pituitary,NS,adenoma,ACTH-FSH-GH-LH-PRL c.1861C>A p.R621S 13:48456250-48456250 32
2 COSM150337228 CTNNB1 pituitary,NS,adenoma,ACTH-FSH c.127G>C p.A43P 3:41224639-41224639 32
3 COSM151605250 CTNNB1 pituitary,NS,adenoma,ACTH-FSH c.127G>C p.A43P 3:41224639-41224639 32
4 COSM150962042 CTNNB1 pituitary,NS,adenoma,ACTH-FSH-LH-alpha SU c.113C>A p.S38Y 3:41224646-41224646 32
5 COSM150547790 CTNNB1 pituitary,NS,adenoma,ACTH-FSH c.127G>C p.A43P 3:41224639-41224639 32
6 COSM111910236 CTNNB1 pituitary,NS,adenoma,ACTH-FSH c.127G>C p.A43P 3:41224639-41224639 32
7 COSM102452270 CTNNB1 pituitary,NS,adenoma,ACTH-FSH-LH-alpha SU c.134C>A p.S45Y 3:41224646-41224646 32
8 COSM151827775 CTNNB1 pituitary,NS,adenoma,ACTH-FSH-LH-alpha SU c.134C>A p.S45Y 3:41224646-41224646 32
9 COSM102412283 CTNNB1 pituitary,NS,adenoma,ACTH-FSH c.127G>C p.A43P 3:41224639-41224639 32
10 COSM110181025 CTNNB1 pituitary,NS,adenoma,ACTH-FSH-LH-alpha SU c.134C>A p.S45Y 3:41224646-41224646 32
11 COSM150300123 CTNNB1 pituitary,NS,adenoma,ACTH-FSH c.127G>C p.A43P 3:41224639-41224639 32
12 COSM146902958 CTNNB1 pituitary,NS,adenoma,ACTH-FSH c.127G>C p.A43P 3:41224639-41224639 32
13 COSM151356165 CTNNB1 pituitary,NS,adenoma,ACTH-FSH c.106G>C p.A36P 3:41224639-41224639 32
14 COSM150480970 CTNNB1 pituitary,NS,adenoma,ACTH-FSH c.127G>C p.A43P 3:41224639-41224639 32
15 COSM151979920 CTNNB1 pituitary,NS,adenoma,ACTH-FSH-LH-alpha SU c.134C>A p.S45Y 3:41224646-41224646 32
16 COSM151836221 CTNNB1 pituitary,NS,adenoma,ACTH-FSH c.127G>C p.A43P 3:41224639-41224639 32
17 COSM150660304 CTNNB1 pituitary,NS,adenoma,ACTH-FSH-LH-alpha SU c.134C>A p.S45Y 3:41224646-41224646 32
18 COSM111894601 CTNNB1 pituitary,NS,adenoma,ACTH-FSH-LH-alpha SU c.113C>A p.S38Y 3:41224646-41224646 32
19 COSM151353823 CTNNB1 pituitary,NS,adenoma,ACTH-FSH c.106G>C p.A36P 3:41224639-41224639 32
20 COSM111038093 CTNNB1 pituitary,NS,adenoma,ACTH-FSH-LH-alpha SU c.134C>A p.S45Y 3:41224646-41224646 32
21 COSM102485110 CTNNB1 pituitary,NS,adenoma,ACTH-FSH c.127G>C p.A43P 3:41224639-41224639 32
22 COSM151345590 CTNNB1 pituitary,NS,adenoma,ACTH-FSH-LH-alpha SU c.113C>A p.S38Y 3:41224646-41224646 32
23 COSM150868805 CTNNB1 pituitary,NS,adenoma,ACTH-FSH-LH-alpha SU c.113C>A p.S38Y 3:41224646-41224646 32
24 COSM102380394 CTNNB1 pituitary,NS,adenoma,ACTH-FSH-LH-alpha SU c.134C>A p.S45Y 3:41224646-41224646 32
25 COSM150827985 CTNNB1 pituitary,NS,adenoma,ACTH-FSH c.127G>C p.A43P 3:41224639-41224639 32
26 COSM151559313 CTNNB1 pituitary,NS,adenoma,ACTH-FSH-LH-alpha SU c.134C>A p.S45Y 3:41224646-41224646 32
27 COSM110212608 CTNNB1 pituitary,NS,adenoma,ACTH-FSH c.127G>C p.A43P 3:41224639-41224639 32
28 COSM151344333 CTNNB1 pituitary,NS,adenoma,ACTH-FSH-LH-alpha SU c.113C>A p.S38Y 3:41224646-41224646 32
29 COSM151570765 CTNNB1 pituitary,NS,adenoma,ACTH-FSH c.127G>C p.A43P 3:41224639-41224639 32
30 COSM149991639 CTNNB1 pituitary,NS,adenoma,ACTH-FSH c.106G>C p.A36P 3:41224639-41224639 32
31 COSM149959645 CTNNB1 pituitary,NS,adenoma,ACTH-FSH-LH-alpha SU c.113C>A p.S38Y 3:41224646-41224646 32
32 COSM111917881 CTNNB1 pituitary,NS,adenoma,ACTH-FSH c.106G>C p.A36P 3:41224639-41224639 32
33 COSM89400777 CTNNB1 pituitary,NS,adenoma,ACTH-FSH c.127G>C p.A43P 3:41224639-41224639 32
34 COSM151749628 CTNNB1 pituitary,NS,adenoma,ACTH-FSH-LH-alpha SU c.134C>A p.S45Y 3:41224646-41224646 32
35 COSM150914444 CTNNB1 pituitary,NS,adenoma,ACTH-FSH-LH-alpha SU c.134C>A p.S45Y 3:41224646-41224646 32
36 COSM150123989 CTNNB1 pituitary,NS,adenoma,ACTH-FSH c.106G>C p.A36P 3:41224639-41224639 32
37 COSM109723418 CTNNB1 pituitary,NS,adenoma,ACTH-FSH c.127G>C p.A43P 3:41224639-41224639 32
38 COSM150143565 CTNNB1 pituitary,NS,adenoma,ACTH-FSH-LH-alpha SU c.134C>A p.S45Y 3:41224646-41224646 32
39 COSM149622803 CTNNB1 pituitary,NS,adenoma,ACTH-FSH c.127G>C p.A43P 3:41224639-41224639 32
40 COSM151980739 CTNNB1 pituitary,NS,adenoma,ACTH-FSH c.127G>C p.A43P 3:41224639-41224639 32
41 COSM146869746 CTNNB1 pituitary,NS,adenoma,ACTH-FSH-LH-alpha SU c.134C>A p.S45Y 3:41224646-41224646 32
42 COSM105914838 CTNNB1 pituitary,NS,adenoma,ACTH-FSH c.127G>C p.A43P 3:41224639-41224639 32
43 COSM150972830 CTNNB1 pituitary,NS,adenoma,ACTH-FSH c.106G>C p.A36P 3:41224639-41224639 32
44 COSM151337543 CTNNB1 pituitary,NS,adenoma,ACTH-FSH c.106G>C p.A36P 3:41224639-41224639 32
45 COSM111066143 CTNNB1 pituitary,NS,adenoma,ACTH-FSH c.127G>C p.A43P 3:41224639-41224639 32
46 COSM151764396 CTNNB1 pituitary,NS,adenoma,ACTH-FSH c.127G>C p.A43P 3:41224639-41224639 32
47 COSM149416720 CTNNB1 pituitary,NS,adenoma,ACTH-FSH c.127G>C p.A43P 3:41224639-41224639 32
48 COSM149504302 CTNNB1 pituitary,NS,adenoma,ACTH-FSH c.127G>C p.A43P 3:41224639-41224639 32
49 COSM150171677 CTNNB1 pituitary,NS,adenoma,ACTH-FSH c.127G>C p.A43P 3:41224639-41224639 32
50 COSM151505463 CTNNB1 pituitary,NS,adenoma,ACTH-FSH c.106G>C p.A36P 3:41224639-41224639 32
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 GeneCards Suite gene sharing:

(show all 22)
# Super pathways Score Top Affiliating Genes
1
Signal Transduction 66
13.56 USP8 TP53 SST PRKAR1A POMC NR3C1
2
Disease 66
Show member pathways
 13.53 ATRX BRAF CYP11B1 CYP11B2 CYP17A1 CYP21A2
3
NFAT and Cardiac Hypertrophy 64
Show member pathways
 12.73 PRKAR1A GNAS GNAI2 CACNA1H BRAF
4
CCR5 Pathway in Macrophages 64
Show member pathways
 12.71 PRKAR1A GNAS GNAI2 CACNA1H BRAF
5
Diseases of glycosylation 66
Show member pathways
 12.58 POMC CYP21A2 CYP17A1 CYP11B2 CYP11B1
6
Oxidation by cytochrome P450 74
Show member pathways
 12.55 POMC CYP21A2 CYP17A1 CYP11B2 CYP11B1
7
Myometrial relaxation and contraction pathways 74
Show member pathways
 12.39 PRKAR1A GNAS GNAI2 CRH
8
Metabolism of steroids 66
Show member pathways
 12.39 CYP11B1 CYP11B2 CYP17A1 CYP21A2 POMC
9
G-Beta Gamma Signaling 64
Show member pathways
 12.08 PRKAR1A POMC GNAS GNAI2 CRH CACNA1H
10
Colorectal Cancer Metastasis 64
11.98 TP53 PRKAR1A GNAS BRAF
11
G alpha (s) signalling events 66
Show member pathways
 11.97 PRKAR1A POMC GNAS GNAI2 CRH
12
Signal transduction_PKA signaling 22
11.7 PRKAR1A GNAS GNAI2
13
Glucocorticoid receptor regulatory network 61
11.62 TP53 POMC NR3C1
14
G-protein signaling_RhoA regulation pathway 22
11.6 PRKAR1A GNAS CACNA1H BRAF
15
Metabolism of steroid hormones 66
Show member pathways
 11.54 POMC CYP21A2 CYP17A1 CYP11B2 CYP11B1
16
Serotonin HTR1 group and FOS pathway 74
Show member pathways
 11.49 NR3C1 GNAS BRAF
17
Thyroid stimulating hormone (TSH) signaling pathway 74
11.43 GNAS GNAI2 BRAF
18
G-protein signaling_Rap1A regulation pathway 22
11.35 GNAS GNAI2 BRAF
19
Corticotropin-releasing hormone signaling pathway 74
11.18 POMC GNAS GNAI2 CYP21A2 CYP11B1 CRH
20
Metabolic disorders of biological oxidation enzymes 66
11.09 CYP21A2 CYP17A1 CYP11B2 CYP11B1
21
TCA cycle in senescence 74
10.57 TP53 BRAF
22
Glucocorticoid Pathway (HPA Axis), Pharmacodynamics 60
10.39 CRH POMC
Sources

GO Terms for Conn's Syndrome

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cellular response to hormone stimulus GO:0032870 9.95 CYP11B2 CYP11B1 CACNA1H
2 steroid metabolic process GO:0008202 9.93 CYP21A2 CYP17A1 CYP11B2 CYP11B1
3 sterol metabolic process GO:0016125 9.91 CYP21A2 CYP11B2 CYP11B1
4 cellular response to peptide hormone stimulus GO:0071375 9.85 CYP11B1 CYP11B2 MEN1
5 C21-steroid hormone biosynthetic process GO:0006700 9.81 CYP11B2 CYP11B1
6 cortisol metabolic process GO:0034650 9.8 CYP11B2 CYP11B1
7 cellular response to potassium ion GO:0035865 9.8 CACNA1H CYP11B1 CYP11B2
8 steroid biosynthetic process GO:0006694 9.73 CYP21A2 CYP17A1 CYP11B2 CYP11B1
9 mineralocorticoid biosynthetic process GO:0006705 9.71 CYP21A2 CYP11B2
10 cortisol biosynthetic process GO:0034651 9.63 CYP11B2 CYP11B1 CACNA1H
11 aldosterone biosynthetic process GO:0032342 9.43 CACNA1H CYP11B1 CYP11B2
12 glucocorticoid biosynthetic process GO:0006704 9.32 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 10.01 CYP21A2 CYP17A1 CYP11B2 CYP11B1
2 iron ion binding GO:0005506 9.97 CYP21A2 CYP17A1 CYP11B2 CYP11B1
3 steroid binding GO:0005496 9.8 NR3C2 NR3C1 CYP21A2
4 corticosterone 18-monooxygenase activity GO:0047783 9.56 CYP11B2 CYP11B1
5 steroid 11-beta-monooxygenase activity GO:0004507 9.46 CYP11B2 CYP11B1
6 monooxygenase activity GO:0004497 9.26 CYP21A2 CYP17A1 CYP11B2 CYP11B1
7 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 8.92 CYP21A2 CYP17A1 CYP11B2 CYP11B1
Sources

Sources for Conn's Syndrome

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2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
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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