MCID: ECT093
MIFTS: 45

Ectopic Cushing Syndrome

Categories: Endocrine diseases, Gastrointestinal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Ectopic Cushing Syndrome

MalaCards integrated aliases for Ectopic Cushing Syndrome:

Name: Ectopic Cushing Syndrome 12 58 15
Cushing Syndrome Due to Ectopic Acth Secretion 12 58
Ectopic Acth Secreting Tumor 12 58
Adrenocorticotropic Hormone Secretion Syndrome 58
Paraneoplastic Cushing Syndrome 58
Occult Ectopic Acth Secretion 58

Classifications:

Orphanet: 58  
Rare gastroenterological diseases
Rare infertility disorders
Rare endocrine diseases


Summaries for Ectopic Cushing Syndrome

Disease Ontology : 12 A primary hyperaldosteronism that is characterized by a tumor outside the pituitary gland produces a hormone called adrenocorticotropic hormone.

MalaCards based summary : Ectopic Cushing Syndrome, also known as cushing syndrome due to ectopic acth secretion, is related to hypokalemia and bronchial adenomas/carcinoids childhood. An important gene associated with Ectopic Cushing Syndrome is SST (Somatostatin), and among its related pathways/superpathways are Peptide ligand-binding receptors and G alpha (s) signalling events. The drugs Iron and Edetic Acid have been mentioned in the context of this disorder. Affiliated tissues include pituitary, thyroid and lung, and related phenotypes are muscle weakness and hypokalemia

Related Diseases for Ectopic Cushing Syndrome

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

(show top 50) (show all 228)
# Related Disease Score Top Affiliating Genes
1 hypokalemia 30.5 POMC NR3C1 CRH
2 bronchial adenomas/carcinoids childhood 30.4 SST POMC
3 zollinger-ellison syndrome 30.3 SST CHGA
4 neuroendocrine tumor 30.2 SST POMC CHGA CALCA
5 gastrinoma 30.2 SST POMC CHGA
6 islet cell tumor 30.2 SST CHGA CALCA
7 pulmonary neuroendocrine tumor 30.2 SST CHGA
8 pancreatoblastoma 30.1 SST CHGA
9 carcinoid syndrome 30.0 SST CHGA CALCA
10 neuroendocrine carcinoma 29.9 SST CHGA CALCA
11 adrenal cortical adenoma 29.9 POMC CHGA
12 diarrhea 29.8 SST POMC CALCA
13 thyroid gland medullary carcinoma 29.7 SST POMC CHGA CALCA
14 thyroid carcinoma, familial medullary 29.7 SST POMC CHGA CALCA
15 small cell cancer of the lung 29.7 SST POMC CHGA CALCA
16 multiple endocrine neoplasia 29.7 SST POMC CHGA CALCA
17 multiple endocrine neoplasia, type i 29.3 SST PRL POMC CHGA
18 conn's syndrome 29.2 SST PRL POMC NR3C1 CRH CHGA
19 pituitary adenoma 29.0 SST PRL POMC CRH CHGA
20 adenoma 29.0 SST PRL POMC CRH CHGA
21 nelson syndrome 29.0 SST PRL POMC NR3C1 CRH
22 pheochromocytoma 28.5 SST PRL POMC CRH CHGA CALCA
23 dowling-degos disease 1 10.3
24 chiasmal syndrome 10.3 SST POMC
25 functionless pituitary adenoma 10.3 SST POMC
26 thymic carcinoma 10.3
27 teratoma 10.3
28 sacrococcygeal teratoma 10.3
29 hyperpigmentation of the skin 10.3
30 thyroid carcinoma 10.2
31 somatization disorder 10.2 POMC CRH
32 fasting hypoglycemia 10.2 POMC CRH
33 adjustment disorder 10.2 POMC CRH
34 lymphocytic hypophysitis 10.2 TBX19 POMC
35 inappropriate adh syndrome 10.2 POMC CRH
36 dysthymic disorder 10.2 POMC CRH
37 gastrointestinal neuroendocrine benign tumor 10.2 SST CHGA
38 ampulla of vater benign neoplasm 10.2 SST CHGA
39 abnormality of glucagon secretion 10.2 SST NR3C1
40 adrenal cortical hypofunction 10.2 POMC CRH
41 lung cancer 10.2
42 hyperglycemia 10.2
43 paraneoplastic syndromes 10.2
44 withdrawal disorder 10.2 POMC CRH
45 non-functioning pancreatic endocrine tumor 10.2 SST CHGA
46 duodenal benign neoplasm 10.2 SST CHGA
47 phobic disorder 10.2 POMC CRH
48 olivopontocerebellar atrophy 10.2 SST CRH
49 duodenal gastrinoma 10.2 SST CHGA
50 alzheimer disease 16 10.2 POMC NR3C1

Graphical network of the top 20 diseases related to Ectopic Cushing Syndrome:



Diseases related to Ectopic Cushing Syndrome

Symptoms & Phenotypes for Ectopic Cushing Syndrome

Human phenotypes related to Ectopic Cushing Syndrome:

58 31 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001324
2 hypokalemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002900
3 fatigue 58 31 hallmark (90%) Very frequent (99-80%) HP:0012378
4 skeletal muscle atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003202
5 osteoporosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000939
6 striae distensae 58 31 hallmark (90%) Very frequent (99-80%) HP:0001065
7 bruising susceptibility 58 31 hallmark (90%) Very frequent (99-80%) HP:0000978
8 thin skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000963
9 depressivity 58 31 frequent (33%) Frequent (79-30%) HP:0000716
10 diabetes mellitus 58 31 frequent (33%) Frequent (79-30%) HP:0000819
11 immunodeficiency 58 31 frequent (33%) Frequent (79-30%) HP:0002721
12 acne 58 31 frequent (33%) Frequent (79-30%) HP:0001061
13 anxiety 58 31 frequent (33%) Frequent (79-30%) HP:0000739
14 nephrolithiasis 58 31 frequent (33%) Frequent (79-30%) HP:0000787
15 recurrent fractures 58 31 frequent (33%) Frequent (79-30%) HP:0002757
16 generalized hirsutism 58 31 frequent (33%) Frequent (79-30%) HP:0002230
17 pheochromocytoma 58 31 frequent (33%) Frequent (79-30%) HP:0002666
18 round face 58 31 frequent (33%) Frequent (79-30%) HP:0000311
19 infertility 58 31 frequent (33%) Frequent (79-30%) HP:0000789
20 truncal obesity 58 31 frequent (33%) Frequent (79-30%) HP:0001956
21 thyroid carcinoma 58 31 frequent (33%) Frequent (79-30%) HP:0002890
22 thymoma 58 31 frequent (33%) Frequent (79-30%) HP:0100522
23 menometrorrhagia 58 31 frequent (33%) Frequent (79-30%) HP:0400008
24 small cell lung carcinoma 58 31 frequent (33%) Frequent (79-30%) HP:0030357
25 hypertensive crisis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100735
26 weight loss 58 31 occasional (7.5%) Occasional (29-5%) HP:0001824
27 generalized hyperpigmentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0007440
28 diarrhea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002014
29 hypertension 58 Frequent (79-30%)
30 neuroendocrine neoplasm 58 Frequent (79-30%)

MGI Mouse Phenotypes related to Ectopic Cushing Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.92 CHGA CRH NR3C1 POMC PRL SSR2
2 endocrine/exocrine gland MP:0005379 9.91 CHGA CRH NR3C1 POMC PRL SSR2
3 integument MP:0010771 9.73 CRH NR3C1 POMC PRL SSR2 TBX19
4 nervous system MP:0003631 9.56 CHGA CRH NR3C1 POMC PRL SSR2
5 liver/biliary system MP:0005370 9.55 CRH NR3C1 POMC PRL SSR2
6 no phenotypic analysis MP:0003012 9.02 CHGA CRH NR3C1 POMC SST

Drugs & Therapeutics for Ectopic Cushing Syndrome

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

(show all 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved Phase 2 7439-89-6 23925 29936
2
Edetic Acid Approved, Vet_approved Phase 2 60-00-4, 62-33-9 6049
3
Somatostatin Approved, Investigational Phase 2 51110-01-1, 38916-34-6 53481605
4
Pentetic acid Approved Phase 2 67-43-6
5
Levodopa Approved Phase 2 59-92-7 6047
6
Octreotide Approved, Investigational Phase 1, Phase 2 83150-76-9 383414 6400441
7
Phenylalanine Approved, Investigational, Nutraceutical Phase 2 63-91-2 6140
8 Antidotes Phase 2
9 Chelating Agents Phase 2
10 Fluorodeoxyglucose F18 Phase 2
11 Fluorides Phase 2
12 Iron Chelating Agents Phase 2
13 Protective Agents Phase 2
14 Calcium, Dietary Phase 2
15 Anticoagulants Phase 2
16 Dihydroxyphenylalanine Phase 1, Phase 2
17
Calcium Nutraceutical Phase 2 7440-70-2 271

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 New Imaging Modalities in the Evaluation of Patients With Ectopic Cushing's Syndrome Completed NCT00001849 Phase 2 Pentetreotide;18F-DOPA;18-FDG
2 Evaluation of 68Ga -DOTATATE PET/CT, Octreotide and F-DOPA PET Imaging in Patients With Ectopic Cushing Syndrome Recruiting NCT02019706 Phase 1, Phase 2

Search NIH Clinical Center for Ectopic Cushing Syndrome

Genetic Tests for Ectopic Cushing Syndrome

Anatomical Context for Ectopic Cushing Syndrome

MalaCards organs/tissues related to Ectopic Cushing Syndrome:

40
Pituitary, Thyroid, Lung, Skeletal Muscle, Pancreas, Adrenal Gland, Liver

Publications for Ectopic Cushing Syndrome

Articles related to Ectopic Cushing Syndrome:

(show top 50) (show all 66)
# Title Authors PMID Year
1
To determine the efficacy of bilateral inferior petrosal sinus sampling in differentiating Cushing disease from ectopic Cushing syndrome. 61
33484548 2021
2
Diagnosis and management of small pulmonary atypical carcinoid tumor associated with Cushing syndrome. 61
33318759 2020
3
Ectopic Cushing syndrome caused by a pancreatic neuroendocrine tumor: A case report. 61
32547669 2020
4
Ectopic Cushing syndrome in Colombia. 61
32609152 2020
5
Functional imaging in ectopic Cushing syndrome. 61
32250975 2020
6
Ectopic Cushing Syndrome: A Rare Cause of Electrolyte Derangements. 61
31606493 2020
7
A case of gastrinoma associated with ectopic Cushing syndrome. 61
32077445 2020
8
Ectopic Corticotropin-Releasing Hormone-Secreting Pancreatic Neuroendocrine Tumor: Excellent Response of Liver Metastases to Peptide Receptor Radionuclide Therapy as Demonstrated by 68Ga-DOTATOC and 18F-FDG PET/CT Imaging. 61
31714276 2020
9
Ectopic ACTH syndrome of different origin-Diagnostic approach and clinical outcome. Experience of one Clinical Centre. 61
33237923 2020
10
ACTH-producing tumorlets and carcinoids of the lung: clinico-pathologic study of 63 cases and review of the literature. 61
31264037 2019
11
68Ga-DOTATATE PET/CT of Ectopic Cushing Syndrome Due to Appendicular Carcinoid. 61
31524683 2019
12
Acute Liver Failure Due to Severe Hepatic Metastasis of Small-cell Lung Cancer Producing Adrenocorticotropic Hormone Complicating Ectopic Cushing Syndrome. 61
31243230 2019
13
Fluconazole treatment in severe ectopic Cushing syndrome 61
31373475 2019
14
Ectopic ACTH Syndrome With Association of Multiple Pulmonary Sclerosing Pneumocytomas and Multiple Carcinoid Tumorlets. 61
31020057 2019
15
Severe Hypercortisolism with Hypokalemic Alkalosis Mimicking Ectopic Cushing Syndrome in a Patient with Cushing Disease Due to Pituitary Microadenoma. 61
30766837 2018
16
Ectopic Cushing Syndrome (ECS): 68Ga-DOTANOC PET/CT Localizes the Site of Ectopic Adrenocorticotropic Hormone Production. 61
30036246 2018
17
Two types of ectopic Cushing syndrome or a continuum? Review. 61
29766359 2018
18
THYMIC CARCINOID WITH ADRENOCORTICOTROPIC HORMONE-PRODUCING ECTOPIC CUSHING SYNDROME AND EMPTY SELLA. 61
31897433 2018
19
Ectopic Cushing syndrome: Report of 9 cases. 61
29655957 2018
20
Combined Ovarian and Adrenal Venous Sampling in the Localization of Adrenocorticotropic Hormone-Independent Ectopic Cushing Syndrome. 61
29161416 2018
21
Case report: Ectopic Cushing's syndrome in a young male with hidden lung carcinoid tumor. 61
29202350 2018
22
Case-series of paraneoplastic Cushing syndrome in small-cell lung cancer. 61
29535866 2018
23
Psychosis as a sequelae of paraneoplastic syndrome in Small- Cell Lung Carcinoma: A psycho-neuroendocrine interface. 61
29164929 2017
24
ECTOPIC CUSHING SYNDROME: A 10-YEAR EXPERIENCE FROM A TERTIARY CARE CENTER IN SOUTHERN INDIA. 61
28614007 2017
25
Ectopic Cushing syndrome in small cell lung cancer: A case report and literature review. 61
28102935 2017
26
Successful percutaneous CT-guided microwave ablation of adrenal gland for ectopic Cushing syndrome. 61
27919009 2017
27
Adrenal Cushing syndrome with detectable ACTH from an unexpected source. 61
27903577 2016
28
Ectopic Cushing syndrome due to neuroendocrine prostatic cancer. 61
27170243 2016
29
Hypercortisolism Manifesting as Severe Weight Loss, Hypokalemia, and Hyperglycemia in the Emergency Department. 61
26896288 2016
30
Ectopic Corticotropin-Producing Neuroendocrine Tumor of the Pancreas Treated With 177Lu DOTATATE Induction and Maintenance Peptide Receptor Radionuclide Therapy. 61
26359569 2016
31
Small cell carcinoma of the prostate presenting with Cushing Syndrome. A narrative review of an uncommon condition. 61
27068390 2016
32
PET imaging in ectopic Cushing syndrome: a systematic review. 61
26206753 2015
33
Ectopic Cushing syndrome secondary to recurrent pancreatoblastoma in a child: Lessons learnt. 61
26881602 2015
34
Rapid response of hypercortisolism to vandetanib treatment in a patient with advanced medullary thyroid cancer and ectopic Cushing syndrome. 61
26331322 2015
35
Positive (68)Ga-DOTATOC-PET/CT after cortisol level control during ketoconazole treatment in a patient with liver metastases from a pancreatic neuroendocrine tumor and ectopic Cushing syndrome. 61
25168486 2015
36
ACTH-secreting pancreatic neoplasms associated with Cushing syndrome: clinicopathologic study of 11 cases and review of the literature. 61
25353285 2015
37
Ectopic Cushing syndrome secondary to metastatic medullary thyroid cancer in a child with multiple endocrine neoplasia syndrome type 2B: clues to early diagnosis of the paraneoplastic syndromes. 61
24859505 2014
38
Vandetanib successfully controls medullary thyroid cancer-related Cushing syndrome in an adolescent patient. 61
24617713 2014
39
Ectopic Cushing syndrome associated with thymic carcinoid tumor as the first presentation of MEN1 syndrome-report of a family with MEN1 gene mutation. 61
24218143 2014
40
A challenging case of an ectopic cushing syndrome. 61
25431598 2014
41
Tumor localization in ectopic Cushing syndrome using combined PET/CT imaging. 61
23816940 2013
42
Severe ectopic cushing syndrome caused by adenoid cystic carcinoma of a salivary gland. 61
23757606 2013
43
Physiological and tumoral uptake of (68)Ga-DOTATATE: standardized uptake values and challenges in interpretation. 61
23543506 2013
44
Alterations in polyadenylation and its implications for endocrine disease. 61
23658553 2013
45
18F-DOPA PET/CT but not 68Ga-DOTA-TOC PET/CT revealed the underlying cause of ectopic Cushing syndrome. 61
22889786 2012
46
Bilateral adrenalectomy: lifesaving procedure in severe Cushing syndrome. 61
22441001 2012
47
Cushing syndrome secondary to a thymic carcinoid tumor due to multiple endocrine neoplasia type 1. 61
21550948 2011
48
Fulminant ectopic Cushing syndrome in a patient with metastatic neuroendocrine carcinoma and Crohn's disease. 61
22286792 2011
49
Long-term management with octreotide or cabergoline in ectopic corticotropin hypersecretion: case report and literature review. 61
20497940 2010
50
Spared adrenals: transient florid ectopic Cushing syndrome associated with necrosis of metastatic carcinoid. 61
20564793 2010

Variations for Ectopic Cushing Syndrome

Expression for Ectopic Cushing Syndrome

Search GEO for disease gene expression data for Ectopic Cushing Syndrome.

GO Terms for Ectopic Cushing Syndrome

Cellular components related to Ectopic Cushing Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.43 SST PRL POMC CRH CHGA CALCA
2 extracellular space GO:0005615 9.1 SST PRL POMC CRH CHGA CALCA

Biological processes related to Ectopic Cushing Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell-cell signaling GO:0007267 9.5 SST POMC CALCA
2 response to heat GO:0009408 9.4 SST CALCA
3 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.37 PRL NR3C1
4 cellular response to dexamethasone stimulus GO:0071549 9.26 NR3C1 CRH
5 response to pain GO:0048265 9.16 CRH CALCA
6 regulation of blood pressure GO:0008217 9.13 POMC CHGA CALCA
7 hormone-mediated apoptotic signaling pathway GO:0008628 8.62 SST CRH

Molecular functions related to Ectopic Cushing Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.02 SST PRL POMC CRH CALCA

Sources for Ectopic Cushing Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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