MCID: ECT093
MIFTS: 52

Ectopic Cushing Syndrome

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

Aliases & Classifications for Ectopic Cushing Syndrome

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 pancreatoblastoma and small cell cancer of the lung. An important gene associated with Ectopic Cushing Syndrome is POMC (Proopiomelanocortin), and among its related pathways/superpathways are Cushing syndrome and G alpha (s) signalling events. The drugs Octreotide and Mifepristone have been mentioned in the context of this disorder. Affiliated tissues include pituitary, thyroid and lung, and related phenotypes are depressivity and diabetes mellitus

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 117)
# Related Disease Score Top Affiliating Genes
1 pancreatoblastoma 30.1 SST SYP
2 small cell cancer of the lung 30.1 POMC SST SYP
3 neuroendocrine tumor 30.0 MEN1 SST SYP
4 carcinoid syndrome 30.0 MEN1 SST SYP
5 bronchus adenoma 10.3 POMC SST
6 bronchial adenomas/carcinoids childhood 10.3 POMC SST
7 acidophil adenoma 10.3 POMC SST
8 pituitary infarct 10.3 POMC SST
9 chiasmal syndrome 10.3 POMC SST
10 malignant glandular tumor of peripheral nerve sheath 10.3 SST SYP
11 adenoma of the pancreas 10.3 SST SYP
12 non-functioning pituitary adenoma 10.3 S100B SST
13 primary hepatic neuroendocrine carcinoma 10.3 S100B SYP
14 sella turcica neoplasm 10.3 POMC SYP
15 mixed type thymoma 10.3 S100B SYP
16 tuberculum sellae meningioma 10.3 POMC SYP
17 chordoid meningioma 10.3 S100B SYP
18 olfactory nerve neoplasm 10.3 POMC SYP
19 dysembryoplastic neuroepithelial tumor 10.3 S100B SYP
20 male reproductive organ benign neoplasm 10.3 POMC SYP
21 rosette-forming glioneuronal tumor 10.3 S100B SYP
22 hypothalamic disease 10.3 CRH POMC
23 supratentorial primitive neuroectodermal tumor 10.3 S100B SYP
24 hyperpituitarism 10.2 POMC SST
25 angiocentric glioma 10.2 S100B SYP
26 hormone producing pituitary cancer 10.2 MEN1 SST
27 acth deficiency, isolated 10.2 CRH POMC
28 pancreatic endocrine carcinoma 10.2 POMC SST SYP
29 pineocytoma 10.2 S100B SYP
30 sheehan syndrome 10.2 CRH POMC
31 partial motor epilepsy 10.2 SMUG1 SYP
32 hypoadrenalism 10.2 CRH POMC
33 intestinal neuroendocrine benign tumor 10.2 MEN1 SSTR1
34 cerebral lymphoma 10.2 SMUG1 SST
35 cellular ependymoma 10.2 SMUG1 SYP
36 small intestine neuroendocrine neoplasm 10.2 MEN1 SSTR1
37 gallbladder small cell carcinoma 10.2 SMUG1 SYP
38 clear cell adenoma 10.2 MEN1 S100B
39 hyperparathyroidism 2 with jaw tumors 10.2 MEN1 RET
40 laurence-moon syndrome 10.2 POMC RET
41 benign struma ovarii 10.2 RET SMUG1
42 intestinal pseudo-obstruction 10.2 RET SST SYP
43 paraganglioma 10.2 RET SST SYP
44 tuberculous empyema 10.2 AVPR2 POMC
45 hypoganglionosis 10.2 RET S100B SYP
46 anaplastic ependymoma 10.2 S100B SYP
47 pituitary carcinoma 10.2 CRH POMC SST
48 inappropriate adh syndrome 10.2 AVPR2 POMC
49 nelson syndrome 10.2 CRH POMC SST
50 gangliocytoma 10.2 CRH POMC SYP

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:

59 32 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 depressivity 59 32 frequent (33%) Frequent (79-30%) HP:0000716
2 diabetes mellitus 59 32 frequent (33%) Frequent (79-30%) HP:0000819
3 muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001324
4 hypokalemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002900
5 fatigue 59 32 hallmark (90%) Very frequent (99-80%) HP:0012378
6 osteoporosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000939
7 immunodeficiency 59 32 frequent (33%) Frequent (79-30%) HP:0002721
8 skeletal muscle atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003202
9 weight loss 59 32 occasional (7.5%) Occasional (29-5%) HP:0001824
10 thin skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000963
11 generalized hirsutism 59 32 frequent (33%) Frequent (79-30%) HP:0002230
12 acne 59 32 frequent (33%) Frequent (79-30%) HP:0001061
13 anxiety 59 32 frequent (33%) Frequent (79-30%) HP:0000739
14 pheochromocytoma 59 32 frequent (33%) Frequent (79-30%) HP:0002666
15 striae distensae 59 32 hallmark (90%) Very frequent (99-80%) HP:0001065
16 round face 59 32 frequent (33%) Frequent (79-30%) HP:0000311
17 hypertensive crisis 59 32 occasional (7.5%) Occasional (29-5%) HP:0100735
18 nephrolithiasis 59 32 frequent (33%) Frequent (79-30%) HP:0000787
19 recurrent fractures 59 32 frequent (33%) Frequent (79-30%) HP:0002757
20 diarrhea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002014
21 thymoma 59 32 frequent (33%) Frequent (79-30%) HP:0100522
22 bruising susceptibility 59 32 hallmark (90%) Very frequent (99-80%) HP:0000978
23 infertility 59 32 frequent (33%) Frequent (79-30%) HP:0000789
24 generalized hyperpigmentation 59 32 occasional (7.5%) Occasional (29-5%) HP:0007440
25 truncal obesity 59 32 frequent (33%) Frequent (79-30%) HP:0001956
26 thyroid carcinoma 59 32 frequent (33%) Frequent (79-30%) HP:0002890
27 menometrorrhagia 59 32 frequent (33%) Frequent (79-30%) HP:0400008
28 small cell lung carcinoma 59 32 frequent (33%) Frequent (79-30%) HP:0030357
29 hypertension 59 Frequent (79-30%)
30 neuroendocrine neoplasm 59 Frequent (79-30%)

MGI Mouse Phenotypes related to Ectopic Cushing Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.14 AVPR2 CRH DNMT1 E2F1 GHRL POMC
2 homeostasis/metabolism MP:0005376 10.1 AVPR2 CRH E2F1 GHRL MEN1 POMC
3 endocrine/exocrine gland MP:0005379 9.97 BCL10 CRH E2F1 GHRL MEN1 POMC
4 immune system MP:0005387 9.91 BCL10 CRH DNMT1 E2F1 MEN1 POMC
5 nervous system MP:0003631 9.7 BCL10 CRH DNMT1 E2F1 MEN1 POMC
6 neoplasm MP:0002006 9.63 DNMT1 E2F1 MEN1 POMC RET SMUG1
7 normal MP:0002873 9.23 CRH DNMT1 E2F1 GHRL RET S100B

Drugs & Therapeutics for Ectopic Cushing Syndrome

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

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Octreotide Approved, Investigational Phase 1, Phase 2,Phase 2 83150-76-9 383414 6400441
2
Mifepristone Approved, Investigational Phase 2 84371-65-3 55245
3 Fluorodeoxyglucose F18 Phase 1, Phase 2
4 Radiopharmaceuticals Phase 1, Phase 2
5 Dihydroxyphenylalanine Phase 1, Phase 2,Phase 2
6 Antineoplastic Agents, Hormonal Phase 2
7 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
8 Contraceptives, Postcoital Phase 2
9 Contraceptive Agents Phase 2
10 Contraceptives, Oral Phase 2
11 Hormones Phase 2
12 Luteolytic Agents Phase 2
13 Hormone Antagonists Phase 2
14 Gastrointestinal Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 New Imaging Techniques in the Evaluation of Patients With Ectopic Cushing Syndrome Recruiting NCT00001849 Phase 1, Phase 2 Pentetreotide;18-F-fluorodeoxyglucose;(18F)-L-3,4-dihydroxyophenylalanine (18F-DOPA)
2 Evaluation of 68Ga-DOTATATE PET/CT, Octreotide and F-DOPA PET Imaging in Patients With Ectopic Cushing Syndrome Recruiting NCT02019706 Phase 2 F-DOPA PET Scan;Mifepristone;Ga-DOTATATE;Octreoscan

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:

41
Pituitary, Thyroid, Lung, Skeletal Muscle, Prostate, Adrenal Gland, Cortex

Publications for Ectopic Cushing Syndrome

Articles related to Ectopic Cushing Syndrome:

(show all 23)
# Title Authors Year
1
Two types of ectopic Cushing syndrome or a continuum? Review. ( 29766359 )
2018
2
Combined Ovarian and Adrenal Venous Sampling in the Localization of Adrenocorticotropic Hormone-Independent Ectopic Cushing Syndrome. ( 29161416 )
2018
3
Ectopic Cushing syndrome: Report of 9 cases. ( 29655957 )
2018
4
Ectopic Cushing Syndrome (ECS): 68Ga-DOTANOC PET/CT Localizes the Site of Ectopic Adrenocorticotropic Hormone Production. ( 30036246 )
2018
5
Ectopic Cushing syndrome in small cell lung cancer: A case report and literature review. ( 28102935 )
2017
6
ECTOPIC CUSHING SYNDROME: A 10-YEAR EXPERIENCE FROM A TERTIARY CARE CENTER IN SOUTHERN INDIA. ( 28614007 )
2017
7
Successful percutaneous CT-guided microwave ablation of adrenal gland for ectopic Cushing syndrome. ( 27919009 )
2017
8
Ectopic Cushing syndrome due to neuroendocrine prostatic cancer. ( 27170243 )
2016
9
Ectopic Cushing syndrome secondary to recurrent pancreatoblastoma in a child: Lessons learnt. ( 26881602 )
2015
10
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. ( 25168486 )
2015
11
Rapid response of hypercortisolism to vandetanib treatment in a patient with advanced medullary thyroid cancer and ectopic Cushing syndrome. ( 26331322 )
2015
12
PET imaging in ectopic Cushing syndrome: a systematic review. ( 26206753 )
2015
13
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. ( 24859505 )
2014
14
Ectopic Cushing syndrome associated with thymic carcinoid tumor as the first presentation of MEN1 syndrome-report of a family with MEN1 gene mutation. ( 24218143 )
2014
15
A challenging case of an ectopic cushing syndrome. ( 25431598 )
2014
16
Tumor localization in ectopic Cushing syndrome using combined PET/CT imaging. ( 23816940 )
2013
17
Severe ectopic cushing syndrome caused by adenoid cystic carcinoma of a salivary gland. ( 23757606 )
2013
18
18F-DOPA PET/CT but not 68Ga-DOTA-TOC PET/CT revealed the underlying cause of ectopic Cushing syndrome. ( 22889786 )
2012
19
Fulminant ectopic Cushing syndrome in a patient with metastatic neuroendocrine carcinoma and Crohn's disease. ( 22286792 )
2011
20
Spared adrenals: transient florid ectopic Cushing syndrome associated with necrosis of metastatic carcinoid. ( 20564793 )
2010
21
Difficulties in diagnosis and management of ectopic Cushing syndrome. ( 18379368 )
2008
22
Multidisciplinary approach including receptor radionuclide therapy with 90Y-DOTATOC ([90Y-DOTA0, Tyr3]-octreotide) and 177Lu-DOTATATE ([177Lu-DOTA0, Tyr3]-octreotate) in ectopic cushing syndrome from a metastatic gastrinoma: a promising proposal. ( 18308661 )
2008
23
Strongyloides hyperinfection syndrome complicating (ectopic) Cushing syndrome. ( 18580721 )
2008

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

Pathways related to Ectopic Cushing Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.86 CRH E2F1 MEN1 POMC
2 11.6 AVPR2 CRH POMC
3 11.56 POMC RET S100B SSTR1 SYP
4 9.8 CRH POMC

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 cell body GO:0043025 8.92 CRH RET S100B SST

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

# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor signaling pathway GO:0007186 9.85 AVPR2 CRH GHRL POMC SST SSTR1
2 positive regulation of gene expression GO:0010628 9.72 AVPR2 CRH DNMT1 E2F1 RET
3 decidualization GO:0046697 9.46 GHRL MEN1
4 regulation of neuronal synaptic plasticity GO:0048168 9.43 S100B SYP
5 response to pain GO:0048265 9.4 CRH RET
6 hormone-mediated apoptotic signaling pathway GO:0008628 9.26 CRH SST
7 positive regulation of corticotropin secretion GO:0051461 9.16 CRH GHRL
8 positive regulation of cortisol secretion GO:0051464 8.96 CRH GHRL
9 negative regulation of circadian sleep/wake cycle, REM sleep GO:0042322 8.62 CRH GHRL

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 8.92 CRH GHRL POMC SST

Sources for Ectopic Cushing Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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