MCID: ACT245
MIFTS: 39

Acth-Dependent Cushing Syndrome

Categories: Endocrine diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Acth-Dependent Cushing Syndrome

MalaCards integrated aliases for Acth-Dependent Cushing Syndrome:

Name: Acth-Dependent Cushing Syndrome 58
Adrenocorticotropic Hormone-Dependent Cushing Syndrome 58
Corticotropin-Dependent Cushing Syndrome 58
Acth-Dependent Cs 58

Classifications:

Orphanet: 58  
Rare infertility disorders
Rare endocrine diseases


Summaries for Acth-Dependent Cushing Syndrome

MalaCards based summary : Acth-Dependent Cushing Syndrome, also known as adrenocorticotropic hormone-dependent cushing syndrome, is related to acth-independent macronodular adrenal hyperplasia and pituitary tumors. An important gene associated with Acth-Dependent Cushing Syndrome is USP8 (Ubiquitin Specific Peptidase 8), and among its related pathways/superpathways are Peptide ligand-binding receptors and G alpha (s) signalling events. The drugs Hydrocortisone and Hydrocortisone acetate have been mentioned in the context of this disorder. Affiliated tissues include pituitary, skin and testes, and related phenotypes are muscle weakness and failure to thrive

Related Diseases for Acth-Dependent Cushing Syndrome

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

(show top 50) (show all 110)
# Related Disease Score Top Affiliating Genes
1 acth-independent macronodular adrenal hyperplasia 31.6 POMC CRH AVPR2 AVPR1B
2 pituitary tumors 30.4 PRL POMC
3 conn's syndrome 29.8 PRL POMC CRH AVPR1B
4 adenoma 29.5 USP8 PRL POMC CRH
5 acth-secreting pituitary adenoma 29.4 USP8 PRL POMC CRH
6 pituitary adenoma 28.6 USP8 PRL POMC GHSR CRH
7 pituitary adenoma 4, acth-secreting 11.9
8 primary pigmented nodular adrenocortical disease 11.7
9 olfactory neuroblastoma 10.3
10 kaposi sarcoma 10.2
11 human herpesvirus 8 10.2
12 sarcoma 10.2
13 spindle cell sarcoma 10.2
14 neuroblastoma 10.2
15 thyroiditis 10.1
16 bronchial adenomas/carcinoids childhood 10.1
17 salpingitis isthmica nodosa 10.1 PRL AVPR2
18 diabetes insipidus, nephrogenic, autosomal 10.1 AVPR2 AVPR1B
19 spinocerebellar degeneration 10.1 PRL CRH
20 fasting hypoglycemia 10.1 POMC CRH
21 ectopic cushing syndrome 10.1 POMC CRH
22 atypical depressive disorder 10.1 POMC CRH
23 acute stress disorder 10.1 POMC CRH
24 adenohypophysitis 10.1 PRL POMC
25 tuberculum sellae meningioma 10.0 PRL POMC
26 sella turcica neoplasm 10.0 PRL POMC
27 adrenal cortical hypofunction 10.0 POMC CRH
28 withdrawal disorder 10.0 POMC CRH
29 phobic disorder 10.0 POMC CRH
30 prolactin producing pituitary tumor 10.0 PRL POMC
31 chromophobe adenoma 10.0 PRL POMC
32 hypothyroidism, congenital, nongoitrous, 4 10.0 PRL POMC
33 acidophil adenoma 10.0 PRL POMC
34 persistent fetal circulation syndrome 10.0 POMC CRH
35 abducens nerve disease 10.0 PRL POMC
36 opiate dependence 10.0 POMC CRH
37 hormone producing pituitary cancer 10.0 PRL POMC
38 adult syndrome 10.0 POMC CRH
39 pituitary apoplexy 10.0 PRL POMC
40 adrenal cortex disease 10.0 POMC CRH
41 cranial nerve palsy 10.0 PRL POMC
42 empty sella syndrome 10.0 PRL POMC
43 van maldergem syndrome 1 10.0 PRL POMC
44 steroid inherited metabolic disorder 10.0 PRL POMC
45 hypoadrenocorticism, familial 10.0 POMC CRH
46 borderline personality disorder 10.0 PRL CRH
47 pituitary hormone deficiency, combined, 2 10.0 PRL POMC
48 personality disorder 10.0 PRL CRH
49 sebaceous gland disease 10.0 PRL POMC
50 anovulation 10.0 PRL CRH

Graphical network of the top 20 diseases related to Acth-Dependent Cushing Syndrome:



Diseases related to Acth-Dependent Cushing Syndrome

Symptoms & Phenotypes for Acth-Dependent Cushing Syndrome

Human phenotypes related to Acth-Dependent Cushing Syndrome:

58 31 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001324
2 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
3 fatigue 58 31 hallmark (90%) Very frequent (99-80%) HP:0012378
4 striae distensae 58 31 hallmark (90%) Very frequent (99-80%) HP:0001065
5 bruising susceptibility 58 31 hallmark (90%) Very frequent (99-80%) HP:0000978
6 thin skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000963
7 pituitary adenoma 58 31 hallmark (90%) Very frequent (99-80%) HP:0002893
8 hypokalemia 58 31 frequent (33%) Frequent (79-30%) HP:0002900
9 immunodeficiency 58 31 frequent (33%) Frequent (79-30%) HP:0002721
10 acne 58 31 frequent (33%) Frequent (79-30%) HP:0001061
11 osteoporosis 58 31 frequent (33%) Frequent (79-30%) HP:0000939
12 anxiety 58 31 frequent (33%) Frequent (79-30%) HP:0000739
13 hypertension 58 31 frequent (33%) Frequent (79-30%) HP:0000822
14 depressivity 58 31 frequent (33%) Frequent (79-30%) HP:0000716
15 lipodystrophy 58 31 frequent (33%) Frequent (79-30%) HP:0009125
16 diabetes mellitus 58 31 frequent (33%) Frequent (79-30%) HP:0000819
17 nephrolithiasis 58 31 frequent (33%) Frequent (79-30%) HP:0000787
18 generalized hirsutism 58 31 frequent (33%) Frequent (79-30%) HP:0002230
19 generalized hyperpigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0007440
20 round face 58 31 frequent (33%) Frequent (79-30%) HP:0000311
21 infertility 58 31 frequent (33%) Frequent (79-30%) HP:0000789
22 menometrorrhagia 58 31 frequent (33%) Frequent (79-30%) HP:0400008

GenomeRNAi Phenotypes related to Acth-Dependent Cushing Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased Salmonella enterica Typhimurium invasion GR00133-A-1 8.8 AVPR1B AVPR2 USP8

MGI Mouse Phenotypes related to Acth-Dependent Cushing Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.7 AGRP AVPR1B AVPR2 CRH GHSR POMC
2 homeostasis/metabolism MP:0005376 9.56 AGRP AVPR1B AVPR2 CRH GHSR POMC
3 liver/biliary system MP:0005370 9.02 AGRP CRH POMC PRL USP8

Drugs & Therapeutics for Acth-Dependent Cushing Syndrome

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydrocortisone Approved, Vet_approved 50-23-7 5754
2
Hydrocortisone acetate Approved, Vet_approved 50-03-3
3 Hydrocortisone 17-butyrate 21-propionate
4 Hydrocortisone hemisuccinate

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Accuracy of Late Night Urinary Free Cortisol/Creatinine and Hair Cortisol in Cushing's Syndrome Diagnosis Recruiting NCT02791698

Search NIH Clinical Center for Acth-Dependent Cushing Syndrome

Genetic Tests for Acth-Dependent Cushing Syndrome

Anatomical Context for Acth-Dependent Cushing Syndrome

MalaCards organs/tissues related to Acth-Dependent Cushing Syndrome:

40
Pituitary, Skin, Testes, Lung

Publications for Acth-Dependent Cushing Syndrome

Articles related to Acth-Dependent Cushing Syndrome:

(show all 34)
# Title Authors PMID Year
1
Bilateral Adrenalectomy: Differences between Cushing Disease and Ectopic ACTH-Producing Tumors. 61
32388739 2020
2
68Ga-DOTATATE PET/CT of Ectopic Cushing Syndrome Due to Appendicular Carcinoid. 61
31524683 2019
3
Postoperative expression of Cushing disease in a young male: metamorphosis of silent corticotroph adenoma? 61
31671410 2019
4
Challenges in diagnosis of disease reported 100 years back: Cushing syndrome; recent advances. 61
31201401 2019
5
Value of fluorine-18-fluorodeoxyglucose PET/CT in localizing the primary lesion in adrenocorticotropic hormone-dependent Cushing syndrome. 61
30973841 2019
6
Adrenocorticotropic Hormone-Dependent Cushing Syndrome Caused by an Olfactory Neuroblastoma. 61
30728732 2019
7
Severe Cushing Syndrome Due to an ACTH-Producing Pheochromocytoma: A Case Presentation and Review of the Literature. 61
29942926 2018
8
Case-series of paraneoplastic Cushing syndrome in small-cell lung cancer. 61
29535866 2018
9
Case report of a bilateral adrenal myelolipoma associated with Cushing disease. 61
29384929 2017
10
Transient pituitary ACTH-dependent Cushing syndrome caused by an immune checkpoint inhibitor combination. 61
29036015 2017
11
A Case of Pulmonary Carcinoid Tumor with a Superimposed Aspergilloma Presenting As a Covert Ectopic Adrenocorticotropic Hormone Syndrome. 61
28642733 2017
12
VENOUS SAMPLING FOR CUSHING DISEASE: COMPARISON OF INTERNAL JUGULAR VEIN AND INFERIOR PETROSAL SINUS SAMPLING. 61
27214296 2016
13
The first description of metyrapone use in severe Cushing Syndrome due to ectopic ACTH secretion in an infant with immature sacrococcygeal teratoma. Case Report. 61
26859587 2015
14
A Case of Ectopic Adrenocorticotropic Hormone Syndrome in Small Cell Lung Cancer. 61
26508941 2015
15
PITUITARY MRI FINDINGS IN PATIENTS WITH PITUITARY AND ECTOPIC ACTH-DEPENDENT CUSHING SYNDROME: DOES A 6-MM PITUITARY TUMOR SIZE CUT-OFF VALUE EXCLUDE ECTOPIC ACTH SYNDROME? 61
26121435 2015
16
Cushing syndrome: update on testing. 61
25732641 2015
17
Ectopic ACTH-secreting pituitary adenoma of the sphenoid sinus: case report of endoscopic endonasal resection and systematic review of the literature. 61
25639312 2015
18
A pediatric patient with Cushing syndrome caused by ectopic ACTH syndrome and concomitant pituitary incidentalomas. 61
23945121 2014
19
Cushing disease revealed by bilateral atypical central serous chorioretinopathy: case report. 61
24013974 2013
20
Cushing syndrome related to leukemic infiltration of the central nervous system: a case report and a possible role of LIF. 61
23729555 2013
21
A rare case of Cushing syndrome by cyclic ectopic-ACTH. 61
22911286 2012
22
Bilateral adrenalectomy: lifesaving procedure in severe Cushing syndrome. 61
22441001 2012
23
ACTH-dependent Cushing syndrome: The potential benefits of simultaneous bilateral posterior retroperitoneoscopic adrenalectomy. 61
21238714 2011
24
Reduction of false-negative results in inferior petrosal sinus sampling with simultaneous prolactin and corticotropin measurement. 61
20713347 2011
25
[ACTH-dependent Cushing syndrome, a diagnostic challenge]. 61
19627738 2009
26
[Bilateral inferior petrosal sinus sampling in the differential diagnosis of ACTH-dependent Cushing's syndrome]. 61
18064362 2007
27
Cutaneous manifestations in a patient with a long-term history of untreated ACTH-dependent Cushing's syndrome. 61
16603099 2006
28
An assessment of petrosal sinus sampling for localization of pituitary microadenomas in children with Cushing disease. 61
16219718 2006
29
[ACTH-dependent Cushing's syndrome: a revision of 43 cases]. 61
16197843 2004
30
[Ectopic ACTH syndrome]. 61
15148825 2004
31
Case report: cushing disease caused by an ectopic intracavernous pituitary microadenoma: case report and review of the literature. 61
12794610 2003
32
Corticotropin-releasing hormone test: improvement of the diagnostic accuracy of simultaneous and bilateral inferior petrosal sinus sampling in patients with Cushing syndrome. 61
7740803 1995
33
The metyrapone and dexamethasone suppression tests for the differential diagnosis of the adrenocorticotropin-dependent Cushing syndrome: a comparison. 61
8042820 1994
34
[Adrenostatic treatment of ACTH-dependent Cushing syndrome using metyrapone and aminoglutethimide]. 61
2820688 1987

Variations for Acth-Dependent Cushing Syndrome

Expression for Acth-Dependent Cushing Syndrome

Search GEO for disease gene expression data for Acth-Dependent Cushing Syndrome.

Pathways for Acth-Dependent Cushing Syndrome

GO Terms for Acth-Dependent Cushing Syndrome

Biological processes related to Acth-Dependent Cushing Syndrome according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.85 PRL POMC GHSR CRH AVPR2 AVPR1B
2 G protein-coupled receptor signaling pathway GO:0007186 9.8 POMC GHSR CRH AVPR2 AVPR1B
3 learning or memory GO:0007611 9.51 GHSR CRH
4 hormone-mediated signaling pathway GO:0009755 9.49 GHSR AGRP
5 cellular response to hormone stimulus GO:0032870 9.48 AVPR2 AVPR1B
6 positive regulation of vasoconstriction GO:0045907 9.46 AVPR2 AVPR1B
7 cellular response to dexamethasone stimulus GO:0071549 9.43 USP8 CRH
8 female pregnancy GO:0007565 9.33 PRL GHSR CRH
9 regulation of feeding behavior GO:0060259 9.32 GHSR AGRP
10 adult feeding behavior GO:0008343 9.26 GHSR AGRP
11 negative regulation of norepinephrine secretion GO:0010700 8.96 GHSR CRH
12 regulation of systemic arterial blood pressure by vasopressin GO:0001992 8.62 AVPR2 AVPR1B

Molecular functions related to Acth-Dependent Cushing Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 9.5 POMC CRH AGRP
2 peptide binding GO:0042277 9.37 AVPR2 AVPR1B
3 hormone activity GO:0005179 9.33 PRL POMC CRH
4 neuropeptide hormone activity GO:0005184 9.26 CRH AGRP
5 vasopressin receptor activity GO:0005000 8.96 AVPR2 AVPR1B
6 type 1 melanocortin receptor binding GO:0070996 8.62 POMC AGRP

Sources for Acth-Dependent Cushing Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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