MCID: ACT244
MIFTS: 33

Acth-Independent Cushing Syndrome

Categories: Cancer diseases, Endocrine diseases, Rare diseases, Reproductive diseases
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Aliases & Classifications for Acth-Independent Cushing Syndrome

MalaCards integrated aliases for Acth-Independent Cushing Syndrome:

Name: Acth-Independent Cushing Syndrome 58
Adrenocorticotropic Hormone-Independent Cushing Syndrome 58
Corticotropin-Independent Cushing Syndrome 58
Adrenal Cushing Syndrome 58

Classifications:

Orphanet: 58  
Rare infertility disorders
Rare endocrine diseases


External Ids:

ICD10 via Orphanet 32 E24.8
Orphanet 58 ORPHA99893

Summaries for Acth-Independent Cushing Syndrome

Orphanet: 58 A form of endogenous Cushing syndrome (CS) that may result from excess secretion of cortisol by either a unilateral and benign (adrenocortical adenoma: 55-60%) or malignant (adrenocortical carcinoma: 35-40 %) adrenocortical tumor or by bilateral adrenal secretion by macronodular adrenal hyperplasia (AIMAH), as an isolated disease or as part of McCune-Albright syndrome (MAS), or by primary pigmented nodular adrenocortical disease (PPNAD), as an isolated disease or as part of Carney complex (CNC).

MalaCards based summary: Acth-Independent Cushing Syndrome, also known as adrenocorticotropic hormone-independent cushing syndrome, is related to acth-independent macronodular adrenal hyperplasia and primary pigmented nodular adrenocortical disease. An important gene associated with Acth-Independent Cushing Syndrome is GNAS (GNAS Complex Locus), and among its related pathways/superpathways are Signal Transduction and GPCR downstream signalling. The drugs Racepinephrine and Hydrocortisone succinate have been mentioned in the context of this disorder. Affiliated tissues include adrenal cortex, cortex and pituitary, and related phenotype is endocrine/exocrine gland.

Related Diseases for Acth-Independent Cushing Syndrome

Diseases in the Acth-Independent Cushing Syndrome family:

Acth-Independent Cushing Syndrome Due to Rare Cortisol-Producing Adrenal Tumor

Diseases related to Acth-Independent Cushing Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 72)
# Related Disease Score Top Affiliating Genes
1 acth-independent macronodular adrenal hyperplasia 31.3 PRKAR1A PDE8B PDE11A GNAS ARMC5
2 primary pigmented nodular adrenocortical disease 30.5 PRKAR1A PRKACA PDE8B PDE11A GNAS ARMC5
3 adrenal adenoma 29.6 PRKAR1A GNAS ARMC5
4 multiple endocrine neoplasia, type i 29.4 PRKAR1A GNAS ARMC5
5 adrenal carcinoma 29.1 PRKAR1A PDE8B PDE11A ARMC5
6 conn's syndrome 29.0 PRKAR1A PRKACA PDE8B PDE11A GNAS ARMC5
7 mccune-albright syndrome 28.8 PRKAR1A PDE8B PDE11A GNAS ARMC5
8 adrenal gland disease 28.8 PRKAR1A PDE8B PDE11A GNAS ARMC5
9 adrenal cortical carcinoma 28.6 PRKAR1A PDE8B PDE11A GNAS ARMC5
10 acth-independent cushing syndrome due to rare cortisol-producing adrenal tumor 11.4
11 acth-independent macronodular adrenal hyperplasia 2 11.4
12 pigmented nodular adrenocortical disease, primary, 2 11.4
13 pigmented nodular adrenocortical disease, primary, 1 11.4
14 pigmented nodular adrenocortical disease, primary, 3 11.4
15 pigmented nodular adrenocortical disease, primary, 4 11.4
16 adenoma 10.3
17 pituitary-dependent cushing's disease 10.3
18 pituitary tumors 10.2
19 bilateral massive adrenal hemorrhage 10.2
20 pituitary adenoma 4, acth-secreting 10.2
21 premature ovarian failure 7 10.2
22 lipoid congenital adrenal hyperplasia 10.1
23 acne 10.1
24 pheochromocytoma 10.1
25 adrenal cortical adenoma 10.1
26 lipid metabolism disorder 10.1
27 pituitary adenoma 10.1
28 acth-secreting pituitary adenoma 10.1
29 multiple endocrine neoplasia 10.0 PRKAR1A GNAS
30 hypertension and brachydactyly syndrome 10.0 PRKAR1A GNAS
31 pseudopseudohypoparathyroidism 10.0 PRKAR1A GNAS
32 pseudohypoparathyroidism 10.0 PRKAR1A GNAS
33 hypoparathyroidism 10.0 PRKAR1A GNAS
34 hormone producing pituitary cancer 10.0 PRKAR1A GNAS
35 pituitary cancer 10.0 PRKAR1A GNAS
36 multiple endocrine neoplasia, type iv 10.0 PRKAR1A GNAS
37 hyperpituitarism 10.0 PRKAR1A GNAS
38 dicer1 syndrome 10.0 PRKAR1A GNAS
39 hypothyroidism, congenital, nongoitrous, 1 10.0 PRKAR1A GNAS
40 pseudohypoparathyroidism, type ia 10.0 PRKAR1A GNAS
41 acrodysostosis 10.0 PRKAR1A GNAS
42 lissencephaly, x-linked, 2 10.0 PRKAR1A GNAS
43 hyperaldosteronism, familial, type i 10.0
44 adrenocortical carcinoma, hereditary 10.0
45 myeloma, multiple 10.0
46 hyperaldosteronism, familial, type ii 10.0
47 hyperaldosteronism, familial, type iii 10.0
48 hyperaldosteronism, familial, type iv 10.0
49 ectopic cushing syndrome 10.0
50 glucose intolerance 10.0

Graphical network of the top 20 diseases related to Acth-Independent Cushing Syndrome:



Diseases related to Acth-Independent Cushing Syndrome

Symptoms & Phenotypes for Acth-Independent Cushing Syndrome

MGI Mouse Phenotypes related to Acth-Independent Cushing Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.02 ARMC5 GNAS PDE11A PRKACA PRKAR1A

Drugs & Therapeutics for Acth-Independent Cushing Syndrome

Drugs for Acth-Independent Cushing Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Racepinephrine Approved, Vet_approved Phase 2 51-43-4, 329-65-7 838 5816
2
Hydrocortisone succinate Approved Phase 2 2203-97-6 3643
3
Hydrocortisone acetate Approved, Vet_approved Phase 2 50-03-3
4
Hydrocortisone Approved, Vet_approved Phase 2 50-23-7 3640 5754
5 Epinephryl borate Phase 2
6 Hydrocortisone 17-butyrate 21-propionate Phase 2
7 Bronchodilator Agents
8 Adrenergic beta-Agonists
9 Neurotransmitter Agents
10 Adrenergic alpha-Agonists
11 Adrenergic Agonists
12 Adrenergic Agents
13 Anti-Asthmatic Agents
14 Vasoconstrictor Agents
15 Respiratory System Agents
16 Anti-Inflammatory Agents
17 Mydriatics
18 Sympathomimetics

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
2 Studies of 18F-CETO as a Tracer for Adrenal PET Diagnostics Completed NCT05361083 Early Phase 1 F18CETO
3 Postmortem Evaluation of Adrenal and Other Endocrine Tumors in Patients With Sudden Death Without Definitive Causative Diagnosis (PEA-SuddenDeath) Recruiting NCT05446779

Search NIH Clinical Center for Acth-Independent Cushing Syndrome

Genetic Tests for Acth-Independent Cushing Syndrome

Anatomical Context for Acth-Independent Cushing Syndrome

Organs/tissues related to Acth-Independent Cushing Syndrome:

MalaCards : Adrenal Cortex, Cortex, Pituitary

Publications for Acth-Independent Cushing Syndrome

Articles related to Acth-Independent Cushing Syndrome:

(show top 50) (show all 106)
# Title Authors PMID Year
1
68Ga-DOTATATE PET/CT of ACTH-Independent Cushing Syndrome Due to Ectopic Adrenocortical Adenoma. 62
36469068 2023
2
Eleven-Year Experience with Selective Adrenal Vein Sampling in Management of Primary Adrenal Hormonal Hypersecretion. 62
36318793 2022
3
Recurrent Cushing Syndrome From Metastatic Adrenocortical Carcinoma With Fumarate Hydratase Allelic Variant. 62
36447829 2022
4
A Novel Missense PRKAR1A Variant Causes Carney Complex. 62
36193716 2022
5
Simultaneous pituitary and adrenal adenomas in a patient with non ACTH dependent Cushing syndrome; a case report with literature review. 62
35413671 2022
6
An Overview of the Heterogeneous Causes of Cushing Syndrome Resulting From Primary Macronodular Adrenal Hyperplasia (PMAH). 62
35402764 2022
7
Metabolic profile differences in ACTH-dependent and ACTH-independent Cushing syndrome. 62
35620164 2022
8
Recent Advances in the Clinical Application of Adrenal Vein Sampling. 62
35222268 2022
9
Consideration triggered by the choice of heterophilic antibody interference detection tests in measuring ACTH for a teenager boy with a rare adrenal disease. 62
33991519 2021
10
Adrenal Cushing syndrome in a patient with corticosteroid-treated asthma and worsening diabetes mellitus. 62
34348911 2021
11
The importance of adrenal venous sampling in ACTH-independent Cushing syndrome: A case report and literature review. 62
34055071 2021
12
Cortisol-Producing Adrenal Adenomas With Intense Activity on 68Ga-Pentixafor PET/CT. 62
33492858 2021
13
First Somatic PRKAR1A Defect Associated With Mosaicism for Another PRKAR1A Mutation in a Patient With Cushing Syndrome. 62
33644619 2021
14
Epidemiology and Comorbidity of Adrenal Cushing Syndrome: A Nationwide Cohort Study. 62
33075802 2021
15
Adrenocorticotropic hormone (ACTH) independent Cushing's syndrome due to unilateral adrenocortical hyperplasia: two case reports. 62
34367446 2021
16
Adrenocorticotropic Hormone-Independent Cushing Syndrome with Right Adrenal Adenoma and HIV Infection: A Case Report. 62
34939910 2021
17
Adrenal Cushing Syndrome Diagnosed During Pregnancy: Successful Medical Management With Metyrapone. 62
33305159 2021
18
Radiologically defined lipid-poor adrenal adenomas: histopathological characteristics. 62
32062826 2020
19
Molecular Basis of Primary Aldosteronism and Adrenal Cushing Syndrome. 62
32783015 2020
20
PRIMARY PIGMENTED NODULAR ADRENOCORTICAL DISEASE (PPNAD) PRESENTING AS CUSHING SYNDROME IN A CHILD AND REVIEW OF LITERATURE. 62
33363661 2020
21
Inhibin A as a tumor marker for primary bilateral macronodular adrenal hyperplasia. 62
32478669 2020
22
[An Uncommon Cause of Arterial Hypertension]. 62
32456579 2020
23
Biochemical and clinical characteristics of patients with primary aldosteronism: Single centre experience. 62
33033458 2020
24
Mifepristone Treatment in Four Cases of Primary Bilateral Macronodular Adrenal Hyperplasia (BMAH). 62
31112270 2019
25
Somatic PRKACA Mutations: Association With Transition From Pituitary-Dependent to Adrenal-Dependent Cushing Syndrome. 62
31276155 2019
26
Plasma Steroid Profiles in Subclinical Compared With Overt Adrenal Cushing Syndrome. 62
30977834 2019
27
Aberrant DNA methylation of synaptophysin is involved in adrenal cortisol-producing adenoma. 62
31352437 2019
28
High expression of adrenal P450 aromatase (CYP19A1) in association with ARMC5-primary bilateral macronodular adrenocortical hyperplasia. 62
31014964 2019
29
Assay-Specific Spurious ACTH Results Lead to Misdiagnosis, Unnecessary Testing, and Surgical Misadventure-A Case Series. 62
30963134 2019
30
Cushing syndrome: uncovering Carney complex due to novel PRKAR1A mutation. 62
30897549 2019
31
Unilateral Adrenalectomy Could Be a Valid Option for Primary Nodular Adrenal Disease: Evidence From Twins. 62
30591956 2019
32
Primary pigmented nodular adrenocortical disease (PPNAD) as an underlying cause of symptoms in a patient presenting with hirsutism and secondary amenorrhea: case report and literature review. 62
30129786 2018
33
Adrenal Venous Sampling for Assessment of Autonomous Cortisol Secretion. 62
30137397 2018
34
Carney Syndrome Presented as a Pathological Spine Fracture in a 35-Year-Old Male. 62
30442879 2018
35
Multiple myeloma concealed by adrenal Cushing syndrome: a case report and review of the literature. 62
30103807 2018
36
Genetics of micronodular adrenal hyperplasia and Carney complex. 62
30093212 2018
37
Inflammatory myopathy in the context of an unusual overlapping laminopathy. 62
29791652 2018
38
Combined Ovarian and Adrenal Venous Sampling in the Localization of Adrenocorticotropic Hormone-Independent Ectopic Cushing Syndrome. 62
29161416 2018
39
Niche point-of-care endocrine testing - Reviews of intraoperative parathyroid hormone and cortisol monitoring. 62
29357735 2018
40
Successful Treatment of Estrogen Excess in Primary Bilateral Macronodular Adrenocortical Hyperplasia with Leuprolide Acetate. 62
29183089 2018
41
Efficacy of dexamethasone suppression test during the diagnosis of primary pigmented nodular adrenocortical disease in Chinese adrenocorticotropic hormone-independent Cushing syndrome. 62
29094256 2018
42
The Many Faces of Primary Aldosteronism and Cushing Syndrome: A Reflection of Adrenocortical Tumor Heterogeneity. 62
29594118 2018
43
The Eosinophil Count Tends to Be Negatively Associated with Levels of Serum Glucose in Patients with Adrenal Cushing Syndrome. 62
28956365 2017
44
Corticotropinoma as a Component of Carney Complex. 62
29264542 2017
45
Coagulation Profile in Patients with Different Etiologies for Cushing Syndrome: A Prospective Observational Study. 62
28226363 2017
46
A Novel PRKAR1A Mutation Identified in a Patient with Isolated Primary Pigmented Nodular Adrenocortical Disease. 62
28878664 2017
47
Steroid metabolome analysis reveals prevalent glucocorticoid excess in primary aldosteronism. 62
28422753 2017
48
Dyslipidemia, weight gain, and decreased growth velocity in a 14-year-old male. 62
28502514 2017
49
Factors predicting the duration of adrenal insufficiency in patients successfully treated for Cushing disease and nonmalignant primary adrenal Cushing syndrome. 62
27395418 2017
50
Maffucci Syndrome Associated With Adrenocorticotropic Hormone-Independent Bilateral Macronodular Adrenal Hyperplasia. 62
29264445 2017

Variations for Acth-Independent Cushing Syndrome

Expression for Acth-Independent Cushing Syndrome

Search GEO for disease gene expression data for Acth-Independent Cushing Syndrome.

Pathways for Acth-Independent Cushing Syndrome

Pathways related to Acth-Independent Cushing Syndrome according to GeneCards Suite gene sharing:

(show all 45)
# Super pathways Score Top Affiliating Genes
1 13.45 PRKAR1A PRKACA PDE8B PDE11A GNAS
2
Show member pathways
13.2 PRKAR1A PRKACA PDE8B PDE11A GNAS
3
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13.01 PRKAR1A PRKACA PDE11A GNAS
4
Show member pathways
12.97 PRKAR1A PRKACA PDE8B GNAS
5
Show member pathways
12.63 PRKAR1A PRKACA GNAS
6
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12.61 PRKAR1A PRKACA GNAS
7
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12.6 PRKAR1A PRKACA GNAS
8
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12.46 PRKAR1A PRKACA GNAS
9
Show member pathways
12.45 PRKAR1A PRKACA GNAS
10
Show member pathways
12.44 PRKAR1A PRKACA GNAS
11
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12.43 PRKAR1A PRKACA GNAS
12
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12.38 PRKAR1A PRKACA GNAS
13
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12.28 PRKAR1A PRKACA GNAS
14
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12.24 PRKAR1A PRKACA GNAS
15
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12.18 PRKAR1A PRKACA GNAS
16 12.1 PRKAR1A PRKACA GNAS
17
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12.04 PRKAR1A PRKACA GNAS
18
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11.91 PRKAR1A PRKACA GNAS
19
Show member pathways
11.89 GNAS PRKACA PRKAR1A
20 11.87 PRKAR1A PRKACA GNAS
21
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11.83 PRKAR1A PRKACA GNAS
22
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11.75 PRKACA GNAS
23
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11.7 PRKAR1A PRKACA GNAS
24
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11.63 PRKAR1A PRKACA GNAS
25
Show member pathways
11.59 PRKAR1A PRKACA GNAS
26 11.55 PRKAR1A PRKACA
27 11.49 PRKAR1A PRKACA GNAS
28
Show member pathways
11.45 PRKAR1A PRKACA GNAS
29 11.39 PRKAR1A PRKACA
30 11.37 PRKAR1A PRKACA GNAS
31 11.36 PRKACA GNAS
32 11.35 PRKACA PRKAR1A
33 11.35 PDE11A PDE8B
34 11.32 PRKAR1A PRKACA
35
Show member pathways
11.28 PRKACA GNAS
36 11.25 PRKAR1A PRKACA
37
Show member pathways
11.23 PRKAR1A PRKACA PDE8B PDE11A GNAS
38 11.14 PRKACA PRKAR1A
39 11.14 PRKACA PRKAR1A
40 11.1 PRKAR1A PRKACA
41 11.02 PRKACA GNAS
42 10.92 PRKACA GNAS
43 10.92 PRKAR1A PRKACA GNAS
44
Show member pathways
10.87 PRKAR1A PRKACA
45 10.49 PRKAR1A PRKACA GNAS

GO Terms for Acth-Independent Cushing Syndrome

Cellular components related to Acth-Independent Cushing Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ciliary base GO:0097546 9.56 PRKAR1A PRKACA
2 plasma membrane raft GO:0044853 9.46 PRKAR1A PRKACA
3 nucleotide-activated protein kinase complex GO:0031588 9.13 PRKAR1A PRKACA
4 cAMP-dependent protein kinase complex GO:0005952 8.92 PRKAR1A PRKACA

Biological processes related to Acth-Independent Cushing Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mesoderm formation GO:0001707 9.1 PRKAR1A PRKACA ARMC5

Molecular functions related to Acth-Independent Cushing Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 3',5'-cyclic-nucleotide phosphodiesterase activity GO:0004114 9.26 PDE8B PDE11A
2 phosphoric diester hydrolase activity GO:0008081 9.16 PDE8B PDE11A
3 3',5'-cyclic-AMP phosphodiesterase activity GO:0004115 8.92 PDE8B PDE11A

Sources for Acth-Independent Cushing Syndrome

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
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