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 acetate and Hydrocortisone have been mentioned in the context of this disorder. Affiliated tissues include pituitary, skin and testes, and related phenotypes are failure to thrive and muscle weakness

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 105)
# Related Disease Score Top Affiliating Genes
1 acth-independent macronodular adrenal hyperplasia 32.6 AVPR2 AVPR1B
2 pituitary tumors 30.4 PRL POMC
3 adenoma 30.0 USP8 PRL POMC
4 conn's syndrome 29.8 PRL POMC CRH AVPR1B
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 11.8
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 salpingitis isthmica nodosa 10.1 PRL AVPR2
16 inappropriate adh syndrome 10.1 POMC AVPR2
17 thyroiditis 10.1
18 bronchial adenomas/carcinoids childhood 10.1
19 hypoadrenalism 10.1 POMC CRH
20 spinocerebellar degeneration 10.1 PRL CRH
21 fasting hypoglycemia 10.1 POMC CRH
22 ectopic cushing syndrome 10.1 POMC CRH
23 atypical depressive disorder 10.1 POMC CRH
24 mixed cerebral palsy 10.1 PRL CRH
25 adenohypophysitis 10.1 PRL POMC
26 acute stress disorder 10.1 POMC CRH
27 tuberculum sellae meningioma 10.0 PRL POMC
28 sella turcica neoplasm 10.0 PRL POMC
29 prolactin producing pituitary tumor 10.0 PRL POMC
30 adrenal cortical hypofunction 10.0 POMC CRH
31 chromophobe adenoma 10.0 PRL POMC
32 hypothyroidism, congenital, nongoitrous, 4 10.0 PRL POMC
33 acidophil adenoma 10.0 PRL POMC
34 withdrawal disorder 10.0 POMC CRH
35 abducens nerve disease 10.0 PRL POMC
36 hormone producing pituitary cancer 10.0 PRL POMC
37 persistent fetal circulation syndrome 10.0 POMC CRH
38 opiate dependence 10.0 POMC CRH
39 pituitary apoplexy 10.0 PRL POMC
40 benign essential hypertension 10.0 PRL POMC
41 cranial nerve palsy 10.0 PRL POMC
42 postpartum depression 10.0 PRL CRH
43 empty sella syndrome 10.0 PRL POMC
44 steroid inherited metabolic disorder 10.0 PRL POMC
45 hypoadrenocorticism, familial 10.0 POMC CRH
46 sex development disorder 10.0 PRL POMC
47 borderline personality disorder 10.0 PRL CRH
48 sexual disorder 10.0 PRL POMC
49 personality disorder 10.0 PRL CRH
50 central nervous system benign neoplasm 10.0 PRL POMC

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

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydrocortisone acetate Approved, Vet_approved 50-03-3
2
Hydrocortisone Approved, Vet_approved 50-23-7 5754
3 Anti-Inflammatory Agents
4 Hydrocortisone hemisuccinate
5 Hydrocortisone-17-butyrate
6 Hydrocortisone 17-butyrate 21-propionate

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, Cortex, Pancreas, Thyroid

Publications for Acth-Dependent Cushing Syndrome

Articles related to Acth-Dependent Cushing Syndrome:

(show all 33)
# Title Authors PMID Year
1
68Ga-DOTATATE PET/CT of Ectopic Cushing Syndrome Due to Appendicular Carcinoid. 61
31524683 2019
2
Postoperative expression of Cushing disease in a young male: metamorphosis of silent corticotroph adenoma? 61
31671410 2019
3
Challenges in diagnosis of disease reported 100 years back: Cushing syndrome; recent advances. 61
31201401 2019
4
Value of fluorine-18-fluorodeoxyglucose PET/CT in localizing the primary lesion in adrenocorticotropic hormone-dependent Cushing syndrome. 61
30973841 2019
5
Adrenocorticotropic Hormone-Dependent Cushing Syndrome Caused by an Olfactory Neuroblastoma. 61
30728732 2019
6
Severe Cushing Syndrome Due to an ACTH-Producing Pheochromocytoma: A Case Presentation and Review of the Literature. 61
29942926 2018
7
Case-series of paraneoplastic Cushing syndrome in small-cell lung cancer. 61
29535866 2018
8
Case report of a bilateral adrenal myelolipoma associated with Cushing disease. 61
29384929 2017
9
Transient pituitary ACTH-dependent Cushing syndrome caused by an immune checkpoint inhibitor combination. 61
29036015 2017
10
A Case of Pulmonary Carcinoid Tumor with a Superimposed Aspergilloma Presenting As a Covert Ectopic Adrenocorticotropic Hormone Syndrome. 61
28642733 2017
11
VENOUS SAMPLING FOR CUSHING DISEASE: COMPARISON OF INTERNAL JUGULAR VEIN AND INFERIOR PETROSAL SINUS SAMPLING. 61
27214296 2016
12
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
13
A Case of Ectopic Adrenocorticotropic Hormone Syndrome in Small Cell Lung Cancer. 61
26508941 2015
14
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
15
Cushing syndrome: update on testing. 61
25732641 2015
16
Ectopic ACTH-secreting pituitary adenoma of the sphenoid sinus: case report of endoscopic endonasal resection and systematic review of the literature. 61
25639312 2015
17
A pediatric patient with Cushing syndrome caused by ectopic ACTH syndrome and concomitant pituitary incidentalomas. 61
23945121 2014
18
Cushing disease revealed by bilateral atypical central serous chorioretinopathy: case report. 61
24013974 2013
19
Cushing syndrome related to leukemic infiltration of the central nervous system: a case report and a possible role of LIF. 61
23729555 2013
20
A rare case of Cushing syndrome by cyclic ectopic-ACTH. 61
22911286 2012
21
Bilateral adrenalectomy: lifesaving procedure in severe Cushing syndrome. 61
22441001 2012
22
ACTH-dependent Cushing syndrome: The potential benefits of simultaneous bilateral posterior retroperitoneoscopic adrenalectomy. 61
21238714 2011
23
Reduction of false-negative results in inferior petrosal sinus sampling with simultaneous prolactin and corticotropin measurement. 61
20713347 2011
24
[ACTH-dependent Cushing syndrome, a diagnostic challenge]. 61
19627738 2009
25
[Bilateral inferior petrosal sinus sampling in the differential diagnosis of ACTH-dependent Cushing's syndrome]. 61
18064362 2007
26
Cutaneous manifestations in a patient with a long-term history of untreated ACTH-dependent Cushing's syndrome. 61
16603099 2006
27
An assessment of petrosal sinus sampling for localization of pituitary microadenomas in children with Cushing disease. 61
16219718 2006
28
[ACTH-dependent Cushing's syndrome: a revision of 43 cases]. 61
16197843 2004
29
[Ectopic ACTH syndrome]. 61
15148825 2004
30
Case report: cushing disease caused by an ectopic intracavernous pituitary microadenoma: case report and review of the literature. 61
12794610 2003
31
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
32
The metyrapone and dexamethasone suppression tests for the differential diagnosis of the adrenocorticotropin-dependent Cushing syndrome: a comparison. 61
8042820 1994
33
[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 G protein-coupled receptor signaling pathway GO:0007186 9.8 POMC GHSR CRH AVPR2 AVPR1B
2 signal transduction GO:0007165 9.8 PRL 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 cellular response to dexamethasone stimulus GO:0071549 9.46 USP8 CRH
7 positive regulation of vasoconstriction GO:0045907 9.43 AVPR2 AVPR1B
8 regulation of feeding behavior GO:0060259 9.37 GHSR AGRP
9 female pregnancy GO:0007565 9.33 PRL GHSR CRH
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 9.43 POMC CRH AGRP
2 neuropeptide hormone activity GO:0005184 9.16 CRH AGRP
3 hormone activity GO:0005179 9.13 PRL POMC CRH
4 vasopressin receptor activity GO:0005000 8.62 AVPR2 AVPR1B

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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