MCID: ECT093
MIFTS: 45

Ectopic Cushing Syndrome

Categories: Endocrine diseases, Gastrointestinal diseases, Rare diseases, Reproductive diseases
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Aliases & Classifications for Ectopic Cushing Syndrome

MalaCards integrated aliases for Ectopic Cushing Syndrome:

Name: Ectopic Cushing Syndrome 11 58 14
Cushing Syndrome Due to Ectopic Acth Secretion 11 58
Ectopic Acth Secreting Tumor 11 58
Adrenocorticotropic Hormone Secretion Syndrome 58
Paraneoplastic Cushing Syndrome 58
Occult Ectopic Acth Secretion 58

Characteristics:


Age Of Onset:

Cushing Syndrome Due to Ectopic Acth Secretion: Adult,Elderly 58

Classifications:

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


Summaries for Ectopic Cushing Syndrome

Orphanet: 58 Cushing syndrome due to ectopic (adrenocorticotropic hormone) ACTH secretion (EAS) is a form of ACTH-dependent Cushing syndrome (see this term) caused by excess secretion of ACTH by a benign or, more often, malignant non-pituitary tumor.

MalaCards based summary: Ectopic Cushing Syndrome, also known as cushing syndrome due to ectopic acth secretion, is related to hypokalemia and carcinoid tumors, intestinal. An important gene associated with Ectopic Cushing Syndrome is POMC (Proopiomelanocortin), and among its related pathways/superpathways are G alpha (s) signalling events and Corticotropin-releasing hormone signaling pathway. The drugs Dopamine and Octreotide have been mentioned in the context of this disorder. Affiliated tissues include pituitary, small intestine and prostate, and related phenotypes are diabetes mellitus and increased circulating cortisol level

Disease Ontology: 11 A primary hyperaldosteronism that is characterized by a tumor outside the pituitary gland produces a hormone called adrenocorticotropic hormone.

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 335)
# Related Disease Score Top Affiliating Genes
1 hypokalemia 30.6 POMC NR3C1 CRH
2 carcinoid tumors, intestinal 30.4 SYP SST CHGA
3 bronchial adenomas/carcinoids childhood 30.4 SST POMC
4 premature ovarian failure 7 30.3 POMC CRH
5 thyroid carcinoma, familial medullary 30.3 SST CHGA CALCA
6 zollinger-ellison syndrome 30.3 SST CHGA
7 lung oat cell carcinoma 30.1 SYP POMC CHGA
8 acne 30.1 PRL POMC CRH
9 teratoma 30.1 SYP SST CHGA
10 empty sella syndrome 30.0 PRL POMC
11 neuroendocrine tumor 29.9 SYP SST POMC CHGA CALCA
12 adrenal neuroblastoma 29.9 SYP CHGA
13 carcinoid syndrome 29.8 SYP SST CHGA CALCA
14 pancreatoblastoma 29.8 SYP CHGA
15 mediastinal cancer 29.8 SYP CHGA
16 conn's syndrome 29.7 TBX19 SYP SST PRL POMC NR3C1
17 pituitary-dependent cushing's disease 29.7 SST PRL POMC NR3C1 CRH
18 gastrointestinal neuroendocrine tumor 29.7 SYP SST CHGA
19 adrenal cortical adenoma 29.6 SYP POMC CHGA
20 gastrinoma 29.6 SYP SST POMC CHGA
21 pulmonary neuroendocrine tumor 29.6 SYP SST CHGA
22 large cell neuroendocrine carcinoma 29.6 SYP SST CHGA
23 neuroendocrine carcinoma 29.6 SYP SST CHGA CALCA
24 small cell cancer of the lung 29.5 SYP SST POMC CHGA CALCA
25 islet cell tumor 29.5 SYP SST POMC CHGA CALCA
26 endocrine gland cancer 29.4 SYP SST CHGA
27 mediastinal lipomatosis 29.4 SYP POMC NR3C1 CRH
28 thyroid gland medullary carcinoma 29.2 SYP SST POMC CHGA CALCA
29 nelson syndrome 29.0 TBX19 SST PRL POMC NR3C1 CRH
30 multiple endocrine neoplasia, type i 28.9 SYP SST PRL POMC CHGA
31 pituitary adenoma 28.9 SST PRL POMC NR3C1 CRH CHGA
32 multiple endocrine neoplasia 28.8 SYP SST PRL POMC CHGA CALCA
33 pheochromocytoma 28.5 SYP SST PRL POMC CRH CHGA
34 thyroid carcinoma 10.3
35 colon adenocarcinoma 10.3
36 thymic carcinoma 10.3
37 sacrococcygeal teratoma 10.3
38 hyperpigmentation of the skin 10.3
39 waterhouse-friderichsen syndrome 10.3 POMC CRH
40 functionless pituitary adenoma 10.3 SST POMC
41 paraneoplastic syndromes 10.3
42 somatization disorder 10.3 POMC CRH
43 neurotic disorder 10.2 POMC CRH
44 retrograde amnesia 10.2 POMC CRH
45 adjustment disorder 10.2 POMC CRH
46 adamantinous craniopharyngioma 10.2 TBX19 POMC
47 dysthymic disorder 10.2 POMC CRH
48 pituitary adenoma 4, acth-secreting 10.2
49 pancreatic cancer 10.2
50 hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome 10.2

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 30 (show top 50) (show all 84)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 diabetes mellitus 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000819
2 increased circulating cortisol level 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003118
3 increased circulating acth level 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003154
4 paradoxical increased cortisol secretion on dexamethasone suppression test 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003466
5 increased urinary cortisol level 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0012030
6 fatiguable weakness of proximal limb muscles 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0030200
7 emotional lability 58 30 Frequent (33%) Frequent (79-30%)
HP:0000712
8 hypertension 58 30 Frequent (33%) Frequent (79-30%)
HP:0000822
9 immunodeficiency 58 30 Frequent (33%) Frequent (79-30%)
HP:0002721
10 acne 58 30 Frequent (33%) Frequent (79-30%)
HP:0001061
11 osteoporosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000939
12 anxiety 58 30 Frequent (33%) Frequent (79-30%)
HP:0000739
13 striae distensae 58 30 Frequent (33%) Frequent (79-30%)
HP:0001065
14 lymphopenia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001888
15 insomnia 58 30 Frequent (33%) Frequent (79-30%)
HP:0100785
16 bruising susceptibility 58 30 Frequent (33%) Frequent (79-30%)
HP:0000978
17 truncal obesity 58 30 Frequent (33%) Frequent (79-30%)
HP:0001956
18 hirsutism 58 30 Frequent (33%) Frequent (79-30%)
HP:0001007
19 leukocytosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0001974
20 thin skin 58 30 Frequent (33%) Frequent (79-30%)
HP:0000963
21 adrenal hyperplasia 58 30 Frequent (33%) Frequent (79-30%)
HP:0008221
22 poor wound healing 58 30 Frequent (33%) Frequent (79-30%)
HP:0001058
23 hyperpigmentation of the skin 58 30 Frequent (33%) Frequent (79-30%)
HP:0000953
24 plethora 58 30 Frequent (33%) Frequent (79-30%)
HP:0001050
25 proximal amyotrophy 58 30 Frequent (33%) Frequent (79-30%)
HP:0007126
26 intra-oral hyperpigmentation 58 30 Frequent (33%) Frequent (79-30%)
HP:0010284
27 abdominal obesity 58 30 Frequent (33%) Frequent (79-30%)
HP:0012743
28 capillary fragility 58 30 Frequent (33%) Frequent (79-30%)
HP:0025017
29 dorsocervical fat pad 58 30 Frequent (33%) Frequent (79-30%)
HP:0025383
30 asthenia 58 30 Frequent (33%) Frequent (79-30%)
HP:0025406
31 increased circulating androgen concentration 58 30 Frequent (33%) Frequent (79-30%)
HP:0030348
32 ecchymosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0031364
33 abnormal libido 58 30 Frequent (33%) Frequent (79-30%)
HP:0031845
34 decreased eosinophil count 58 30 Frequent (33%) Frequent (79-30%)
HP:0031891
35 moon facies 58 30 Frequent (33%) Frequent (79-30%)
HP:0500011
36 depression 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000716
37 secondary amenorrhea 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000869
38 myocardial infarction 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001658
39 skin ulcer 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0200042
40 anorexia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002039
41 sparse scalp hair 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002209
42 stroke 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001297
43 weight loss 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001824
44 memory impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002354
45 diarrhea 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002014
46 neoplasm of the thymus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100521
47 peripheral edema 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012398
48 psychotic episodes 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000725
49 oligomenorrhea 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000876
50 abnormality of the lymph nodes 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002733

MGI Mouse Phenotypes related to Ectopic Cushing Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.96 CALCA CHGA CRH NR3C1 POMC PRL
2 homeostasis/metabolism MP:0005376 9.81 CALCA CHGA CRH NR3C1 POMC PRL
3 no phenotypic analysis MP:0003012 9.72 CHGA CRH NR3C1 POMC SST
4 endocrine/exocrine gland MP:0005379 9.5 CHGA CRH NR3C1 POMC PRL SSR2
5 integument MP:0010771 9.17 CALCA CRH NR3C1 POMC PRL SSR2

Drugs & Therapeutics for Ectopic Cushing Syndrome

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 2 62-31-7, 51-61-6 681
2
Octreotide Approved, Investigational Phase 2 83150-76-9 383414 6400441
3 Dihydroxyphenylalanine Phase 2
4 Neurotransmitter Agents Phase 2
5 Dopamine Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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 Ectopic Cushing Syndrome

Genetic Tests for Ectopic Cushing Syndrome

Anatomical Context for Ectopic Cushing Syndrome

Organs/tissues related to Ectopic Cushing Syndrome:

MalaCards : Pituitary, Small Intestine, Prostate, Thymus, Thyroid, Lung, Skin

Publications for Ectopic Cushing Syndrome

Articles related to Ectopic Cushing Syndrome:

(show top 50) (show all 118)
# Title Authors PMID Year
1
Combined large-cell neuroendocrine carcinoma and atypical carcinoid of the thymus presenting as ectopic Cushing syndrome. 62
35930234 2022
2
Abiraterone acetate for treatment of ectopic Cushing syndrome caused by ACTH-producing neuroendocrine tumor: a case report. 62
36388644 2022
3
Ectopic Cushing's syndrome in a patient with metastatic Merkel cell carcinoma: A case report. 62
36158508 2022
4
Limited Invasive Protocol: Optimizing Diagnostic Modalities in Corticotropin Mediated Cushing Syndrome. 62
35525501 2022
5
Management of adrenocorticotropic hormone-secreting neuroendocrine tumors and the role of bilateral adrenalectomy in ectopic Cushing syndrome. 62
35437162 2022
6
Successful resolution of ectopic Cushing syndrome by minimally invasive thoracoscopic resection of the neuroendocrine tumor of the thymus: a rare case report. 62
35690804 2022
7
Rare case of renal Ewing sarcoma presenting as ectopic Cushing syndrome in a 12-year-old girl. 62
35131789 2022
8
Acute elevation of interleukin 6 and matrix metalloproteinase 9 during the onset of pituitary apoplexy in Cushing's disease. 62
34041660 2021
9
Medullary thyroid carcinoma with diabetic ketoacidosis: an autopsy case report and literature review. 62
34383239 2021
10
Neuroendocrine neoplasia and bone (Review). 62
34584564 2021
11
Median 10 years follow-up of patients with covert Cushing's syndrome: a case series. 62
34635153 2021
12
Paraneoplastic Cushing Syndrome in Gastrointestinal Neuroendocrine Tumour. 62
34720949 2021
13
[Current role of bilateral adrenalectomy in Ectopic Cushing syndrome.] 62
34219061 2021
14
The value of [68Ga]Ga-DOTA-TATE PET/CT in diagnosis and management of suspected pituitary tumors. 62
34181114 2021
15
Usefulness of imaging modalities in providing timely optimal treatment in atypical clinical course of ectopic Cushing syndrome caused by phreochromocytoma. 62
33720642 2021
16
Ectopic Cushing syndrome in Colombia. 62
34033277 2021
17
Ectopic Cushing Syndrome in Adenocarcinoma of the Lung: Case Report and Literature Review. 62
34079679 2021
18
Somatostatin receptor PET beyond the neuroendocrine tumors of the gastrointestinal tract - the review of literature. 62
34905930 2021
19
Case Report: A Challenging Localization of a Pulmonary Ectopic ACTH-Secreting Tumor in a Patient With Severe Cushing's Syndrome. 62
34305814 2021
20
To determine the efficacy of bilateral inferior petrosal sinus sampling in differentiating Cushing disease from ectopic Cushing syndrome. 62
33484548 2021
21
Use of 18F-FDG PET/CT to Differentiate Ectopic Adrenocorticotropic Hormone-Secreting Lung Tumors From Tumor-Like Pulmonary Infections in Patients With Ectopic Cushing Syndrome. 62
34692551 2021
22
Diagnosis and management of small pulmonary atypical carcinoid tumor associated with Cushing syndrome. 62
33318759 2020
23
Ectopic Cushing syndrome caused by a pancreatic neuroendocrine tumor: A case report. 62
32547669 2020
24
Functional imaging in ectopic Cushing syndrome. 62
32250975 2020
25
Ectopic Cushing Syndrome: A Rare Cause of Electrolyte Derangements. 62
31606493 2020
26
A case of gastrinoma associated with ectopic Cushing syndrome. 62
32077445 2020
27
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. 62
31714276 2020
28
Ectopic ACTH syndrome of different origin-Diagnostic approach and clinical outcome. Experience of one Clinical Centre. 62
33237923 2020
29
68Ga-DOTATATE PET/CT of Ectopic Cushing Syndrome Due to Appendicular Carcinoid. 62
31524683 2019
30
ACTH-producing tumorlets and carcinoids of the lung: clinico-pathologic study of 63 cases and review of the literature. 62
31264037 2019
31
Illicit Upregulation of Serotonin Signaling Pathway in Adrenals of Patients With High Plasma or Intra-Adrenal ACTH Levels. 62
31074783 2019
32
Acute Liver Failure Due to Severe Hepatic Metastasis of Small-cell Lung Cancer Producing Adrenocorticotropic Hormone Complicating Ectopic Cushing Syndrome. 62
31243230 2019
33
Fluconazole treatment in severe ectopic Cushing syndrome 62
31373475 2019
34
Ectopic ACTH Syndrome With Association of Multiple Pulmonary Sclerosing Pneumocytomas and Multiple Carcinoid Tumorlets. 62
31020057 2019
35
Sporadic Medullary Thyroid Carcinoma with Paraneoplastic Cushing Syndrome. 62
31885947 2019
36
Severe Hypercortisolism with Hypokalemic Alkalosis Mimicking Ectopic Cushing Syndrome in a Patient with Cushing Disease Due to Pituitary Microadenoma. 62
30766837 2018
37
Two types of ectopic Cushing syndrome or a continuum? Review. 62
29766359 2018
38
Ectopic Cushing Syndrome (ECS): 68Ga-DOTANOC PET/CT Localizes the Site of Ectopic Adrenocorticotropic Hormone Production. 62
30036246 2018
39
THYMIC CARCINOID WITH ADRENOCORTICOTROPIC HORMONE-PRODUCING ECTOPIC CUSHING SYNDROME AND EMPTY SELLA. 62
31897433 2018
40
Paraneoplastic Cushing syndrome, case-series and review of the literature. 62
28895465 2018
41
Ectopic Cushing syndrome: Report of 9 cases. 62
29655957 2018
42
Combined Ovarian and Adrenal Venous Sampling in the Localization of Adrenocorticotropic Hormone-Independent Ectopic Cushing Syndrome. 62
29161416 2018
43
Case report: Ectopic Cushing's syndrome in a young male with hidden lung carcinoid tumor. 62
29202350 2018
44
Case-series of paraneoplastic Cushing syndrome in small-cell lung cancer. 62
29535866 2018
45
Psychosis as a sequelae of paraneoplastic syndrome in Small- Cell Lung Carcinoma: A psycho-neuroendocrine interface. 62
29164929 2017
46
ECTOPIC CUSHING SYNDROME: A 10-YEAR EXPERIENCE FROM A TERTIARY CARE CENTER IN SOUTHERN INDIA. 62
28614007 2017
47
Paraneoplastic Cushing Syndrome Due To Wilm's Tumor. 62
28599697 2017
48
Successful percutaneous CT-guided microwave ablation of adrenal gland for ectopic Cushing syndrome. 62
27919009 2017
49
Ectopic Cushing syndrome in small cell lung cancer: A case report and literature review. 62
28102935 2017
50
A Case of Paraneoplastic Cushing Syndrome Presenting as Hyperglycemic Hyperosmolar Nonketotic Syndrome. 62
28512417 2017

Variations for Ectopic Cushing Syndrome

Expression for Ectopic Cushing Syndrome

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

Pathways 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 neuronal dense core vesicle GO:0098992 8.92 SST CHGA CALCA

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

# Name GO ID Score Top Affiliating Genes
1 regulation of blood pressure GO:0008217 9.02 POMC CHGA CALCA

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 9.32 SST PRL POMC CRH CALCA

Sources for Ectopic 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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