MCID: ECT093
MIFTS: 50

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 60 15
Cushing Syndrome Due to Ectopic Acth Secretion 12 60
Ectopic Acth Secreting Tumor 12 60
Adrenocorticotropic Hormone Secretion Syndrome 60
Paraneoplastic Cushing Syndrome 60
Occult Ectopic Acth Secretion 60

Classifications:



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 acth-secreting pituitary adenoma. An important gene associated with Ectopic Cushing Syndrome is POMC (Proopiomelanocortin), and among its related pathways/superpathways are Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways and Neuroscience. The drugs Somatostatin and Octreotide have been mentioned in the context of this disorder. Affiliated tissues include pituitary, thyroid and prostate, 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 121)
# Related Disease Score Top Affiliating Genes
1 pancreatoblastoma 30.4 SST SYP
2 acth-secreting pituitary adenoma 30.4 CRH POMC
3 small cell cancer of the lung 30.3 POMC SST SYP
4 carcinoid syndrome 30.3 MEN1 SST SYP
5 neuroendocrine tumor 30.2 MEN1 SST SYP
6 conn's syndrome 30.2 CRH MEN1 POMC SST
7 bronchus adenoma 10.5 POMC SST
8 bronchial adenomas/carcinoids childhood 10.5 POMC SST
9 acidophil adenoma 10.5 POMC SST
10 pituitary infarct 10.5 POMC SST
11 chiasmal syndrome 10.5 POMC SST
12 malignant glandular tumor of peripheral nerve sheath 10.4 SST SYP
13 gastrointestinal neuroendocrine tumor 10.4 SST SYP
14 sella turcica neoplasm 10.4 POMC SYP
15 non-functioning pituitary adenoma 10.4 S100B SST
16 tuberculum sellae meningioma 10.4 POMC SYP
17 primary hepatic neuroendocrine carcinoma 10.4 S100B SYP
18 olfactory nerve neoplasm 10.4 POMC SYP
19 male reproductive organ benign neoplasm 10.4 POMC SYP
20 allergic encephalomyelitis 10.4 CRH POMC
21 mixed type thymoma 10.4 S100B SYP
22 chordoid meningioma 10.4 S100B SYP
23 hypothalamic disease 10.4 CRH POMC
24 hyperpituitarism 10.4 POMC SST
25 dysembryoplastic neuroepithelial tumor 10.4 S100B SYP
26 rosette-forming glioneuronal tumor 10.4 S100B SYP
27 supratentorial primitive neuroectodermal tumor 10.4 S100B SYP
28 acth deficiency, isolated 10.4 CRH POMC
29 hormone producing pituitary cancer 10.4 MEN1 SST
30 laurence-moon syndrome 10.4 POMC RET
31 angiocentric glioma 10.4 S100B SYP
32 sheehan syndrome 10.4 CRH POMC
33 pineocytoma 10.4 S100B SYP
34 hypoadrenalism 10.4 CRH POMC
35 pancreatic endocrine carcinoma 10.3 POMC SST SYP
36 hyperparathyroidism 2 with jaw tumors 10.3 MEN1 RET
37 tsh producing pituitary tumor 10.3 POMC SST
38 anaplastic ependymoma 10.3 S100B SYP
39 clear cell adenoma 10.3 MEN1 S100B
40 thyroid gland disease 10.3 POMC RET SST
41 tuberculous empyema 10.3 AVPR2 POMC
42 inappropriate adh syndrome 10.3 AVPR2 POMC
43 intestinal pseudo-obstruction 10.3 RET SST SYP
44 fasting hypoglycemia 10.3 CRH POMC
45 pituitary carcinoma 10.3 CRH POMC SST
46 paraganglioma 10.3 RET SST SYP
47 nelson syndrome 10.3 CRH POMC SST
48 papillary ependymoma 10.3 S100B SYP
49 gangliocytoma 10.3 CRH POMC SYP
50 adrenal cortex disease 10.3 CRH POMC SST

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:

60 33 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0001324
2 hypokalemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002900
3 fatigue 60 33 hallmark (90%) Very frequent (99-80%) HP:0012378
4 osteoporosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000939
5 skeletal muscle atrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0003202
6 thin skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0000963
7 striae distensae 60 33 hallmark (90%) Very frequent (99-80%) HP:0001065
8 bruising susceptibility 60 33 hallmark (90%) Very frequent (99-80%) HP:0000978
9 depressivity 60 33 frequent (33%) Frequent (79-30%) HP:0000716
10 diabetes mellitus 60 33 frequent (33%) Frequent (79-30%) HP:0000819
11 immunodeficiency 60 33 frequent (33%) Frequent (79-30%) HP:0002721
12 generalized hirsutism 60 33 frequent (33%) Frequent (79-30%) HP:0002230
13 acne 60 33 frequent (33%) Frequent (79-30%) HP:0001061
14 anxiety 60 33 frequent (33%) Frequent (79-30%) HP:0000739
15 pheochromocytoma 60 33 frequent (33%) Frequent (79-30%) HP:0002666
16 round face 60 33 frequent (33%) Frequent (79-30%) HP:0000311
17 nephrolithiasis 60 33 frequent (33%) Frequent (79-30%) HP:0000787
18 recurrent fractures 60 33 frequent (33%) Frequent (79-30%) HP:0002757
19 thymoma 60 33 frequent (33%) Frequent (79-30%) HP:0100522
20 infertility 60 33 frequent (33%) Frequent (79-30%) HP:0000789
21 truncal obesity 60 33 frequent (33%) Frequent (79-30%) HP:0001956
22 thyroid carcinoma 60 33 frequent (33%) Frequent (79-30%) HP:0002890
23 menometrorrhagia 60 33 frequent (33%) Frequent (79-30%) HP:0400008
24 small cell lung carcinoma 60 33 frequent (33%) Frequent (79-30%) HP:0030357
25 weight loss 60 33 occasional (7.5%) Occasional (29-5%) HP:0001824
26 hypertensive crisis 60 33 occasional (7.5%) Occasional (29-5%) HP:0100735
27 diarrhea 60 33 occasional (7.5%) Occasional (29-5%) HP:0002014
28 generalized hyperpigmentation 60 33 occasional (7.5%) Occasional (29-5%) HP:0007440
29 hypertension 60 Frequent (79-30%)
30 neuroendocrine neoplasm 60 Frequent (79-30%)

MGI Mouse Phenotypes related to Ectopic Cushing Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.11 AVPR2 CRH DNMT1 E2F1 GHRL POMC
2 homeostasis/metabolism MP:0005376 10 AVPR2 CRH E2F1 GHRL MEN1 POMC
3 endocrine/exocrine gland MP:0005379 9.92 BCL10 CRH E2F1 GHRL MEN1 POMC
4 immune system MP:0005387 9.81 BCL10 CRH DNMT1 E2F1 MEN1 POMC
5 nervous system MP:0003631 9.7 BCL10 CRH DNMT1 E2F1 MEN1 POMC
6 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 23)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Somatostatin Approved, Investigational Phase 1, Phase 2 38916-34-6, 51110-01-1 53481605
2
Octreotide Approved, Investigational Phase 1, Phase 2,Phase 2 83150-76-9 6400441 383414
3
Mifepristone Approved, Investigational Phase 2 84371-65-3 55245
4
Hydrocortisone acetate Approved, Vet_approved Phase 2 50-03-3
5
Hydrocortisone Approved, Vet_approved Phase 2 50-23-7 5754
6
Racepinephrine Approved Phase 2 329-65-7 838
7
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
8 Dihydroxyphenylalanine Phase 1, Phase 2,Phase 2
9 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
10 Gastrointestinal Agents Phase 2
11 Antineoplastic Agents, Hormonal Phase 2
12 Hormone Antagonists Phase 2
13 Contraceptives, Oral Phase 2
14 Contraceptives, Postcoital Phase 2
15 Contraceptive Agents Phase 2
16 Luteolytic Agents Phase 2
17 Hormones Phase 2
18 Epinephryl borate Phase 2
19 Adrenocorticotropic Hormone Phase 2
20 Hydrocortisone 17-butyrate 21-propionate Phase 2
21 Hydrocortisone hemisuccinate Phase 2
22 Melanocyte-Stimulating Hormones Phase 2
23 beta-endorphin Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 New Imaging Techniques in the Evaluation of Patients With Ectopic Cushing Syndrome Completed NCT00001849 Phase 1, Phase 2 Pentetreotide;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
3 Prospective, Open-Label, Multicenter, International Study of Mifepristone for Symptomatic Treatment of Cushing's Syndrome Caused by Ectopic Adrenal Corticotrophin Hormone (ACTH) Secretion Terminated NCT00422201 Phase 2 Mifepristone

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:

42
Pituitary, Thyroid, Prostate, Skin, Skeletal Muscle, Liver, Salivary Gland

Publications for Ectopic Cushing Syndrome

Articles related to Ectopic Cushing Syndrome:

(show all 25)
# Title Authors Year
1
Combined Ovarian and Adrenal Venous Sampling in the Localization of Adrenocorticotropic Hormone-Independent Ectopic Cushing Syndrome. ( 29161416 )
2018
2
Ectopic Cushing syndrome: Report of 9 cases. ( 29655957 )
2018
3
Two types of ectopic Cushing syndrome or a continuum? Review. ( 29766359 )
2018
4
Ectopic Cushing Syndrome (ECS): 68Ga-DOTANOC PET/CT Localizes the Site of Ectopic Adrenocorticotropic Hormone Production. ( 30036246 )
2018
5
Severe Hypercortisolism with Hypokalemic Alkalosis Mimicking Ectopic Cushing Syndrome in a Patient with Cushing Disease Due to Pituitary Microadenoma. ( 30766837 )
2018
6
Successful percutaneous CT-guided microwave ablation of adrenal gland for ectopic Cushing syndrome. ( 27919009 )
2017
7
Ectopic Cushing syndrome in small cell lung cancer: A case report and literature review. ( 28102935 )
2017
8
ECTOPIC CUSHING SYNDROME: A 10-YEAR EXPERIENCE FROM A TERTIARY CARE CENTER IN SOUTHERN INDIA. ( 28614007 )
2017
9
Ectopic Cushing syndrome due to neuroendocrine prostatic cancer. ( 27170243 )
2016
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
PET imaging in ectopic Cushing syndrome: a systematic review. ( 26206753 )
2015
12
Rapid response of hypercortisolism to vandetanib treatment in a patient with advanced medullary thyroid cancer and ectopic Cushing syndrome. ( 26331322 )
2015
13
Ectopic Cushing syndrome secondary to recurrent pancreatoblastoma in a child: Lessons learnt. ( 26881602 )
2015
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
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
16
A challenging case of an ectopic cushing syndrome. ( 25431598 )
2014
17
Severe ectopic cushing syndrome caused by adenoid cystic carcinoma of a salivary gland. ( 23757606 )
2013
18
Tumor localization in ectopic Cushing syndrome using combined PET/CT imaging. ( 23816940 )
2013
19
18F-DOPA PET/CT but not 68Ga-DOTA-TOC PET/CT revealed the underlying cause of ectopic Cushing syndrome. ( 22889786 )
2012
20
Fulminant ectopic Cushing syndrome in a patient with metastatic neuroendocrine carcinoma and Crohn's disease. ( 22286792 )
2011
21
Spared adrenals: transient florid ectopic Cushing syndrome associated with necrosis of metastatic carcinoid. ( 20564793 )
2010
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
Difficulties in diagnosis and management of ectopic Cushing syndrome. ( 18379368 )
2008
24
Strongyloides hyperinfection syndrome complicating (ectopic) Cushing syndrome. ( 18580721 )
2008
25
Ectopic Cushing' syndrome caused by a neuroendocrine carcinoma of the mesentery. ( 16643652 )
2006

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 11.65 RET SST SSTR1
2 11.56 POMC RET S100B SSTR1 SYP
3 11.5 AVPR2 CRH POMC
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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