MCID: ECT093
MIFTS: 50

Ectopic Cushing Syndrome

Categories: Endocrine diseases, Reproductive diseases, Rare diseases

Aliases & Classifications for Ectopic Cushing Syndrome

MalaCards integrated aliases for Ectopic Cushing Syndrome:

Name: Ectopic Cushing Syndrome 12 55 14
Cushing Syndrome Due to Ectopic Acth Secretion 12 55
Ectopic Acth Secreting Tumor 12 55
Adrenocorticotropic Hormone Secretion Syndrome 55
Paraneoplastic Cushing Syndrome 55
Occult Ectopic Acth Secretion 55

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 small cell cancer of the lung and neuroendocrine tumor, and has symptoms including round face, anxiety and nephrolithiasis. An important gene associated with Ectopic Cushing Syndrome is POMC (Proopiomelanocortin), and among its related pathways/superpathways are Neuroscience and Glucocorticoid Pathway (HPA Axis), Pharmacodynamics. The drugs Mifepristone and Octreotide have been mentioned in the context of this disorder. Affiliated tissues include pituitary, thyroid and lung, and related phenotypes are behavior/neurological and homeostasis/metabolism

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 107)
# Related Disease Score Top Affiliating Genes
1 small cell cancer of the lung 30.1 POMC SST SYP
2 neuroendocrine tumor 30.0 MEN1 SST SYP
3 pancreatoblastoma 29.8 SST SYP
4 adrenal gland hyperfunction 29.5 CRH GHRL POMC SST
5 bronchus adenoma 10.6 POMC SST
6 bronchial adenomas/carcinoids childhood 10.6 POMC SST
7 acidophil adenoma 10.6 POMC SST
8 pituitary infarct 10.6 POMC SST
9 malignant glandular tumor of peripheral nerve sheath 10.6 SST SYP
10 adenoma of the pancreas 10.6 SST SYP
11 chiasmal syndrome 10.6 POMC SST
12 pancreatic endocrine carcinoma 10.5 SST SYP
13 non-functioning pituitary adenoma 10.5 S100B SST
14 primary hepatic neuroendocrine carcinoma 10.5 S100B SYP
15 mixed type thymoma 10.5 S100B SYP
16 sella turcica neoplasm 10.5 POMC SYP
17 multiple endocrine neoplasia type 1 and type 2 10.5 MEN1 RET
18 chordoid meningioma 10.5 S100B SYP
19 tuberculum sellae meningioma 10.5 POMC SYP
20 gangliocytoma 10.5 CRH SYP
21 hypothalamic disease 10.5 CRH POMC
22 pancreatic islet cell tumors 10.5 MEN1 SST
23 hormone producing pituitary cancer 10.5 MEN1 SST
24 dysembryoplastic neuroepithelial tumor 10.5 S100B SYP
25 phaeochromocytoma 10.4 POMC RET SST
26 acth deficiency, isolated 10.4 CRH POMC
27 cellular ependymoma 10.4 SMUG1 SYP
28 supratentorial primitive neuroectodermal tumor 10.4 S100B SYP
29 gallbladder small cell carcinoma 10.4 SMUG1 SYP
30 benign struma ovarii 10.4 RET SMUG1
31 gastrointestinal neuroendocrine tumor 10.4 SMUG1 SYP
32 cerebral lymphoma 10.4 SMUG1 SST
33 paraganglioma 10.4 RET SST SYP
34 hyperparathyroidism 2 with jaw tumors 10.4 MEN1 RET
35 hypoganglionosis 10.4 RET S100B SYP
36 pituitary carcinoma 10.4 CRH POMC SST
37 nelson syndrome 10.4 CRH POMC SST
38 adrenal cortex disease 10.4 CRH POMC SST
39 adrenal gland disease 10.4 CRH POMC SST
40 pituitary-dependent cushing's disease 10.4 CRH POMC SST
41 primary pigmented nodular adrenocortical disease 10.4 POMC SSTR1 SYP
42 anaplastic ependymoma 10.4 S100B SYP
43 binswanger's disease 10.4 CRH SST SYP
44 clear cell adenoma 10.4 MEN1 S100B
45 sheehan syndrome 10.4 CRH POMC
46 pancreatic somatostatinoma 10.4 MEN1 SST SYP
47 pituitary tumors 10.4 MEN1 POMC SST
48 tuberculous empyema 10.4 AVPR2 POMC
49 adrenal carcinoma 10.4 CRH POMC SYP
50 carcinoid tumors, intestinal 10.4 MEN1 SST 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:

55 31 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 round face 55 31 frequent (33%) Frequent (79-30%) HP:0000311
2 anxiety 55 31 frequent (33%) Frequent (79-30%) HP:0000739
3 nephrolithiasis 55 31 frequent (33%) Frequent (79-30%) HP:0000787
4 infertility 55 31 frequent (33%) Frequent (79-30%) HP:0000789
5 diabetes mellitus 55 31 frequent (33%) Frequent (79-30%) HP:0000819
6 osteoporosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000939
7 thin skin 55 31 hallmark (90%) Very frequent (99-80%) HP:0000963
8 bruising susceptibility 55 31 hallmark (90%) Very frequent (99-80%) HP:0000978
9 acne 55 31 frequent (33%) Frequent (79-30%) HP:0001061
10 striae distensae 55 31 hallmark (90%) Very frequent (99-80%) HP:0001065
11 muscle weakness 55 31 hallmark (90%) Very frequent (99-80%) HP:0001324
12 weight loss 55 31 occasional (7.5%) Occasional (29-5%) HP:0001824
13 truncal obesity 55 31 frequent (33%) Frequent (79-30%) HP:0001956
14 diarrhea 55 31 occasional (7.5%) Occasional (29-5%) HP:0002014
15 generalized hirsutism 55 31 frequent (33%) Frequent (79-30%) HP:0002230
16 pheochromocytoma 55 31 frequent (33%) Frequent (79-30%) HP:0002666
17 immunodeficiency 55 31 frequent (33%) Frequent (79-30%) HP:0002721
18 recurrent fractures 55 31 frequent (33%) Frequent (79-30%) HP:0002757
19 thyroid carcinoma 55 31 frequent (33%) Frequent (79-30%) HP:0002890
20 hypokalemia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002900
21 skeletal muscle atrophy 55 31 hallmark (90%) Very frequent (99-80%) HP:0003202
22 generalized hyperpigmentation 55 31 occasional (7.5%) Occasional (29-5%) HP:0007440
23 fatigue 55 31 hallmark (90%) Very frequent (99-80%) HP:0012378
24 small cell lung carcinoma 55 31 frequent (33%) Frequent (79-30%) HP:0030357
25 thymoma 55 31 frequent (33%) Frequent (79-30%) HP:0100522
26 hypertensive crisis 55 31 occasional (7.5%) Occasional (29-5%) HP:0100735
27 menometrorrhagia 55 31 frequent (33%) Frequent (79-30%) HP:0400008
28 depression 55 Frequent (79-30%)
29 hypertension 55 Frequent (79-30%)
30 neuroendocrine neoplasm 55 Frequent (79-30%)
31 depressivity 31 frequent (33%) HP:0000716

MGI Mouse Phenotypes related to Ectopic Cushing Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.11 CRH DNMT1 E2F1 GHRL POMC RET
2 homeostasis/metabolism MP:0005376 10.03 S100B SMUG1 SSR2 SST SSTR1 AVPR2
3 endocrine/exocrine gland MP:0005379 9.92 BCL10 CRH E2F1 GHRL MEN1 POMC
4 nervous system MP:0003631 9.7 BCL10 CRH DNMT1 E2F1 MEN1 POMC
5 neoplasm MP:0002006 9.63 DNMT1 E2F1 MEN1 POMC RET SMUG1
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 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mifepristone Approved, Investigational Phase 2 84371-65-3 55245
2
Octreotide Approved, Investigational Phase 2,Phase 1 83150-76-9 6400441 383414
3 Fluorodeoxyglucose F18 Phase 1, Phase 2
4 Gastrointestinal Agents Phase 2
5 Contraceptive Agents Phase 2
6 Contraceptives, Oral Phase 2
7 Contraceptives, Postcoital Phase 2
8 Hormone Antagonists Phase 2
9 Dihydroxyphenylalanine Phase 2,Phase 1
10 Hormones Phase 2
11 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
12 Antineoplastic Agents, Hormonal Phase 2
13 Luteolytic Agents Phase 2
14 Radiopharmaceuticals Phase 1, 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 F-DOPA PET Scan;Mifepristone;Ga-DOTATATE;Octreoscan
2 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)

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:

38
Pituitary, Thyroid, Lung, Skin, Skeletal Muscle, Prostate, Salivary Gland

Publications for Ectopic Cushing Syndrome

Articles related to Ectopic Cushing Syndrome:

(show all 19)
# Title Authors Year
1
Successful percutaneous CT-guided microwave ablation of adrenal gland for ectopic Cushing syndrome. ( 27919009 )
2017
2
ECTOPIC CUSHING SYNDROME: A 10-YEAR EXPERIENCE FROM A TERTIARY CARE CENTER IN SOUTHERN INDIA. ( 28614007 )
2017
3
Ectopic Cushing syndrome in small cell lung cancer: A case report and literature review. ( 28102935 )
2017
4
Ectopic Cushing syndrome due to neuroendocrine prostatic cancer. ( 27170243 )
2016
5
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
6
PET imaging in ectopic Cushing syndrome: a systematic review. ( 26206753 )
2015
7
Rapid response of hypercortisolism to vandetanib treatment in a patient with advanced medullary thyroid cancer and ectopic Cushing syndrome. ( 26331322 )
2015
8
Ectopic Cushing syndrome secondary to recurrent pancreatoblastoma in a child: Lessons learnt. ( 26881602 )
2015
9
A challenging case of an ectopic cushing syndrome. ( 25431598 )
2014
10
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
11
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
12
Tumor localization in ectopic Cushing syndrome using combined PET/CT imaging. ( 23816940 )
2013
13
Severe ectopic cushing syndrome caused by adenoid cystic carcinoma of a salivary gland. ( 23757606 )
2013
14
18F-DOPA PET/CT but not 68Ga-DOTA-TOC PET/CT revealed the underlying cause of ectopic Cushing syndrome. ( 22889786 )
2012
15
Fulminant ectopic Cushing syndrome in a patient with metastatic neuroendocrine carcinoma and Crohn's disease. ( 22286792 )
2011
16
Spared adrenals: transient florid ectopic Cushing syndrome associated with necrosis of metastatic carcinoid. ( 20564793 )
2010
17
Strongyloides hyperinfection syndrome complicating (ectopic) Cushing syndrome. ( 18580721 )
2008
18
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
19
Difficulties in diagnosis and management of ectopic Cushing syndrome. ( 18379368 )
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 11.55 POMC RET S100B SSTR1 SYP
2 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 9.91 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 9.4 S100B SYP
5 response to pain GO:0048265 9.37 CRH RET
6 positive regulation of corticotropin secretion GO:0051461 9.26 CRH GHRL
7 hormone-mediated apoptotic signaling pathway GO:0008628 9.16 CRH SST
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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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