MCID: ACT245
MIFTS: 38

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 59
Adrenocorticotropic Hormone-Dependent Cushing Syndrome 59
Corticotropin-Dependent Cushing Syndrome 59
Acth-Dependent Cs 59

Classifications:



External Ids:

ICD10 via Orphanet 34 E24.0
UMLS via Orphanet 73 C0342442
Orphanet 59 ORPHA99892

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 81)
# Related Disease Score Top Affiliating Genes
1 acth-independent macronodular adrenal hyperplasia 32.8 AVPR2 AVPR1B
2 pituitary tumors 30.4 PRL POMC
3 conn's syndrome 30.3 PRL POMC CRH
4 adenoma 30.1 USP8 PRL POMC
5 acth-secreting pituitary adenoma 29.3 USP8 PRL POMC CRH
6 pituitary adenoma 4, acth-secreting 11.8
7 primary pigmented nodular adrenocortical disease 11.7
8 olfactory neuroblastoma 10.3
9 inappropriate adh syndrome 10.3 POMC AVPR2
10 tuberculous empyema 10.3 POMC AVPR2
11 allergic encephalomyelitis 10.2 POMC CRH
12 syndrome of inappropriate antidiuretic hormone 10.2 POMC AVPR2
13 gangliocytoma 10.2 POMC CRH
14 acth deficiency, isolated 10.2 POMC CRH
15 hypoadrenalism 10.2 POMC CRH
16 kaposi sarcoma 10.2
17 neuroblastoma 1 10.2
18 human herpesvirus 8 10.2
19 sarcoma 10.2
20 pituitary adenoma 10.2
21 spindle cell sarcoma 10.2
22 fasting hypoglycemia 10.2 POMC CRH
23 pituitary infarct 10.2 PRL POMC
24 chiasmal syndrome 10.2 PRL POMC
25 adenohypophysitis 10.2 PRL POMC
26 spinocerebellar degeneration 10.2 PRL CRH
27 adrenal cortical hypofunction 10.2 POMC CRH
28 pituitary apoplexy 10.2 PRL POMC
29 tuberculum sellae meningioma 10.1 PRL POMC
30 withdrawal disorder 10.1 POMC CRH
31 sella turcica neoplasm 10.1 PRL POMC
32 empty sella syndrome 10.1 PRL POMC
33 fibromyalgia 10.1 PRL CRH
34 persistent fetal circulation syndrome 10.1 POMC CRH
35 hyperpituitarism 10.1 PRL POMC
36 adrenal gland disease 10.1 POMC CRH
37 tsh producing pituitary tumor 10.1 PRL POMC
38 postpartum depression 10.1 PRL CRH
39 thyroiditis 10.1
40 bronchial adenomas/carcinoids childhood 10.1
41 functioning pituitary adenoma 10.1 PRL POMC
42 abducens nerve disease 10.1 PRL POMC
43 hypoadrenocorticism, familial 10.1 POMC CRH
44 chromophobe adenoma 10.1 PRL POMC
45 adrenal rest tumor 10.0 PRL POMC
46 mental depression 10.0 POMC CRH
47 adrenal adenoma 10.0 POMC CRH
48 endocrine organ benign neoplasm 10.0 PRL POMC
49 gynecomastia 10.0 PRL POMC
50 pituitary hormone deficiency, combined, 2 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:

59 32 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001324
2 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
3 fatigue 59 32 hallmark (90%) Very frequent (99-80%) HP:0012378
4 thin skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000963
5 striae distensae 59 32 hallmark (90%) Very frequent (99-80%) HP:0001065
6 pituitary adenoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0002893
7 bruising susceptibility 59 32 hallmark (90%) Very frequent (99-80%) HP:0000978
8 depressivity 59 32 frequent (33%) Frequent (79-30%) HP:0000716
9 diabetes mellitus 59 32 frequent (33%) Frequent (79-30%) HP:0000819
10 hypertension 59 32 frequent (33%) Frequent (79-30%) HP:0000822
11 hypokalemia 59 32 frequent (33%) Frequent (79-30%) HP:0002900
12 osteoporosis 59 32 frequent (33%) Frequent (79-30%) HP:0000939
13 immunodeficiency 59 32 frequent (33%) Frequent (79-30%) HP:0002721
14 generalized hirsutism 59 32 frequent (33%) Frequent (79-30%) HP:0002230
15 acne 59 32 frequent (33%) Frequent (79-30%) HP:0001061
16 anxiety 59 32 frequent (33%) Frequent (79-30%) HP:0000739
17 lipodystrophy 59 32 frequent (33%) Frequent (79-30%) HP:0009125
18 round face 59 32 frequent (33%) Frequent (79-30%) HP:0000311
19 nephrolithiasis 59 32 frequent (33%) Frequent (79-30%) HP:0000787
20 generalized hyperpigmentation 59 32 frequent (33%) Frequent (79-30%) HP:0007440
21 infertility 59 32 frequent (33%) Frequent (79-30%) HP:0000789
22 menometrorrhagia 59 32 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.7 AGRP AVPR1B AVPR2 CRH GHSR POMC
2 adipose tissue MP:0005375 9.56 AGRP CRH GHSR POMC
3 homeostasis/metabolism MP:0005376 9.56 AGRP AVPR1B AVPR2 CRH GHSR POMC
4 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 Approved, Vet_approved 50-23-7 5754
2
Hydrocortisone acetate Approved, Vet_approved 50-03-3
3 Anti-Inflammatory Agents
4 Hydrocortisone-17-butyrate
5 Hydrocortisone 17-butyrate 21-propionate
6 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:

41
Pituitary, Skin, Testes, Lung

Publications for Acth-Dependent Cushing Syndrome

Articles related to Acth-Dependent Cushing Syndrome:

(show all 31)
# Title Authors PMID Year
1
Challenges in diagnosis of disease reported 100 years back: Cushing syndrome; recent advances. 38
31201401 2019
2
Value of fluorine-18-fluorodeoxyglucose PET/CT in localizing the primary lesion in adrenocorticotropic hormone-dependent Cushing syndrome. 38
30973841 2019
3
Adrenocorticotropic Hormone-Dependent Cushing Syndrome Caused by an Olfactory Neuroblastoma. 38
30728732 2019
4
Severe Cushing Syndrome Due to an ACTH-Producing Pheochromocytoma: A Case Presentation and Review of the Literature. 38
29942926 2018
5
Case-series of paraneoplastic Cushing syndrome in small-cell lung cancer. 38
29535866 2018
6
Case report of a bilateral adrenal myelolipoma associated with Cushing disease. 38
29384929 2017
7
Transient pituitary ACTH-dependent Cushing syndrome caused by an immune checkpoint inhibitor combination. 38
29036015 2017
8
A Case of Pulmonary Carcinoid Tumor with a Superimposed Aspergilloma Presenting As a Covert Ectopic Adrenocorticotropic Hormone Syndrome. 38
28642733 2017
9
VENOUS SAMPLING FOR CUSHING DISEASE: COMPARISON OF INTERNAL JUGULAR VEIN AND INFERIOR PETROSAL SINUS SAMPLING. 38
27214296 2016
10
The first description of metyrapone use in severe Cushing Syndrome due to ectopic ACTH secretion in an infant with immature sacrococcygeal teratoma. Case Report. 38
26859587 2015
11
A Case of Ectopic Adrenocorticotropic Hormone Syndrome in Small Cell Lung Cancer. 38
26508941 2015
12
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? 38
26121435 2015
13
Cushing syndrome: update on testing. 38
25732641 2015
14
Ectopic ACTH-secreting pituitary adenoma of the sphenoid sinus: case report of endoscopic endonasal resection and systematic review of the literature. 38
25639312 2015
15
A pediatric patient with Cushing syndrome caused by ectopic ACTH syndrome and concomitant pituitary incidentalomas. 38
23945121 2014
16
Cushing disease revealed by bilateral atypical central serous chorioretinopathy: case report. 38
24013974 2013
17
Cushing syndrome related to leukemic infiltration of the central nervous system: a case report and a possible role of LIF. 38
23729555 2013
18
A rare case of Cushing syndrome by cyclic ectopic-ACTH. 38
22911286 2012
19
Bilateral adrenalectomy: lifesaving procedure in severe Cushing syndrome. 38
22441001 2012
20
ACTH-dependent Cushing syndrome: The potential benefits of simultaneous bilateral posterior retroperitoneoscopic adrenalectomy. 38
21238714 2011
21
Reduction of false-negative results in inferior petrosal sinus sampling with simultaneous prolactin and corticotropin measurement. 38
20713347 2011
22
[ACTH-dependent Cushing syndrome, a diagnostic challenge]. 38
19627738 2009
23
[Bilateral inferior petrosal sinus sampling in the differential diagnosis of ACTH-dependent Cushing's syndrome]. 38
18064362 2007
24
Cutaneous manifestations in a patient with a long-term history of untreated ACTH-dependent Cushing's syndrome. 38
16603099 2006
25
An assessment of petrosal sinus sampling for localization of pituitary microadenomas in children with Cushing disease. 38
16219718 2006
26
[ACTH-dependent Cushing's syndrome: a revision of 43 cases]. 38
16197843 2004
27
[Ectopic ACTH syndrome]. 38
15148825 2004
28
Case report: cushing disease caused by an ectopic intracavernous pituitary microadenoma: case report and review of the literature. 38
12794610 2003
29
Corticotropin-releasing hormone test: improvement of the diagnostic accuracy of simultaneous and bilateral inferior petrosal sinus sampling in patients with Cushing syndrome. 38
7740803 1995
30
The metyrapone and dexamethasone suppression tests for the differential diagnosis of the adrenocorticotropin-dependent Cushing syndrome: a comparison. 38
8042820 1994
31
[Adrenostatic treatment of ACTH-dependent Cushing syndrome using metyrapone and aminoglutethimide]. 38
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 13)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.89 POMC GHSR CRH AVPR2 AVPR1B
2 G protein-coupled receptor signaling pathway GO:0007186 9.83 POMC GHSR CRH AVPR2 AVPR1B
3 learning or memory GO:0007611 9.52 GHSR CRH
4 hormone-mediated signaling pathway GO:0009755 9.51 GHSR AGRP
5 cellular response to dexamethasone stimulus GO:0071549 9.48 USP8 CRH
6 positive regulation of vasoconstriction GO:0045907 9.46 AVPR2 AVPR1B
7 female pregnancy GO:0007565 9.43 PRL GHSR CRH
8 regulation of feeding behavior GO:0060259 9.4 GHSR AGRP
9 adult feeding behavior GO:0008343 9.32 GHSR AGRP
10 negative regulation of norepinephrine secretion GO:0010700 9.16 GHSR CRH
11 parturition GO:0007567 9.07 CRH
12 regulation of systemic arterial blood pressure by vasopressin GO:0001992 8.96 AVPR2 AVPR1B
13 cellular response to hormone stimulus GO:0032870 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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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