MCID: ACT087
MIFTS: 43

Acth Deficiency malady

Categories: Genetic diseases, Endocrine diseases

Aliases & Classifications for Acth Deficiency

Aliases & Descriptions for Acth Deficiency:

Name: Acth Deficiency 24 29 52
Adrenocorticotropic Hormone Deficiency 69
Adrenocorticotropic Hormone Deficiency 24

Classifications:



Summaries for Acth Deficiency

MalaCards based summary : Acth Deficiency, also known as adrenocorticotropic hormone deficiency, is related to late-onset isolated acth deficiency and adrenocorticotropic hormone deficiency. An important gene associated with Acth Deficiency is TBX19 (T-Box 19), and among its related pathways/superpathways are G alpha (s) signalling events and Corticotropin-releasing hormone signaling pathway. The drugs Epinephrine and Hydrocortisone have been mentioned in the context of this disorder. Affiliated tissues include pituitary, testes and thyroid, and related phenotypes are Increased shRNA abundance (Z-score > 2) and endocrine/exocrine gland

Related Diseases for Acth Deficiency

Diseases related to Acth Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 106)
id Related Disease Score Top Affiliating Genes
1 late-onset isolated acth deficiency 11.9
2 adrenocorticotropic hormone deficiency 11.7
3 grin2a-related speech disorders and epilepsy 10.3 GH1 PRL
4 african histoplasmosis 10.3 POMC PRL
5 cerebral hemisphere lipoma 10.3 GH1 PRL
6 gershoni-baruch syndrome 10.3 PRL TRH
7 endometrial mixed adenocarcinoma 10.3 POMC TRH
8 glaucoma, hereditary adult type 1a 10.3 GH1 PRL
9 vertebral artery occlusion 10.3 POMC PRL
10 extragonadal nonseminomatous germ cell tumor 10.2 POMC PRL
11 macrocephaly, benign familial 10.2 GH1 POMC TBX19
12 nonparalytic poliomyelitis 10.2 CRH POMC PRL
13 dacryoadenitis 10.2 CRH POMC PRL
14 merkel cell carcinoma 10.2 CRH POMC PRL
15 esophagus squamous cell papilloma 10.2 CRH POMC PRL
16 astroblastoma 10.2 CRH POMC PRL
17 wheat allergy 10.2 POMC PRL
18 fatty liver disease 10.2 CRH POMC PRL
19 pancreatic colloid cystadenoma 10.2 POMC PRL
20 breast secretory carcinoma 10.2 CRH POMC
21 aflatoxins-related hepatocellular carcinoma 10.2 POMC PRL TRH
22 vestibular gland benign neoplasm 10.2 POMC PRL TRH
23 early-onset parkinson disease 10.2 CRH POMC
24 glomangiomyoma 10.2 GH1 PRL TRH
25 bone benign neoplasm 10.2 POMC PRL PROP1
26 intermittent squint 10.2 CRH GH1 POMC PRL
27 capillary lymphangioma 10.1 CRH GH1 POMC PRL
28 sesame syndrome 10.1 PCSK1 POMC TBX19
29 immune system organ benign neoplasm 10.1 CRH POMC PRL TRH
30 acute gonococcal salpingitis 10.1 CRH POMC PRL TRH
31 potter's syndrome 10.1 LHX3 PROP1
32 endocrine organ benign neoplasm 10.1 CRH POMC PRL TRH
33 congenital tricuspid stenosis 10.1 GH1 POMC PRL TRH
34 hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy 10.1 CRH GH1 POMC PRL
35 olfactory nerve neoplasm 10.1 GH1 POMC PRL TRH
36 protein s deficiency 10.1 GH1 POMC PRL TRH
37 pulmonary neuroendocrine tumor 10.1 GH1 POMC PRL TRH
38 diencephalic neoplasm 10.1 GH1 POMC PRL TRH
39 bile acid synthesis defect, congenital, 4 10.1 GH1 POMC PRL TRH
40 cold-induced sweating syndrome 2 10.1 GH1 POMC PRL TRH
41 thrombophilia 10.1 GH1 POMC PRL TRH
42 papillary craniopharyngioma 10.1 POU1F1 PRL TRH
43 childhood optic tract astrocytoma 10.1 CRH HSD11B1 POMC
44 hemoglobin c disease 10.1 CRH PRL
45 hypogonadism cardiomyopathy 10.0 CRH GH1 PCSK1 POMC
46 microvascular complications of diabetes 3 10.0 GH1 HESX1 POU1F1
47 hypothyroidism 10.0
48 gynandroblastoma 10.0 GH1 HESX1 POU1F1
49 anisometropia 10.0 CRH GH1 HSD11B1 POMC
50 congenital amputation 10.0 HESX1 POU1F1 PROP1

Graphical network of the top 20 diseases related to Acth Deficiency:



Diseases related to Acth Deficiency

Symptoms & Phenotypes for Acth Deficiency

GenomeRNAi Phenotypes related to Acth Deficiency according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-101 9.72 POMC
2 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.72 POMC
3 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.72 MC4R
4 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.72 MC4R
5 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.72 POMC
6 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.72 HESX1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.72 PCSK1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.72 PCSK1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.72 MC4R
10 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.72 POMC
11 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.72 MC4R PCSK1 POMC HESX1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.72 PCSK1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.72 PCSK1 MC4R
14 Increased shRNA abundance (Z-score > 2) GR00366-A-7 9.72 HESX1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.72 PCSK1 MC4R
16 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.72 PCSK1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.72 MC4R
18 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.72 HESX1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-88 9.72 POMC
20 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.72 POMC

MGI Mouse Phenotypes related to Acth Deficiency:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.18 NEUROD1 HESX1 PCSK1 HSD11B1 PITX1 POMC
2 growth/size/body region MP:0005378 10.17 CRH NEUROD1 HESX1 PCSK1 HSD11B1 PITX1
3 behavior/neurological MP:0005386 10.06 CRH NEUROD1 PCSK1 HSD11B1 ASS1 MC4R
4 homeostasis/metabolism MP:0005376 9.97 CRH NEUROD1 PCSK1 HSD11B1 POMC LHX3
5 adipose tissue MP:0005375 9.91 CRH PCSK1 HSD11B1 PITX1 MC4R POMC
6 nervous system MP:0003631 9.8 CRH NEUROD1 HESX1 HSD11B1 PITX1 POMC
7 hearing/vestibular/ear MP:0005377 9.73 NEUROD1 HESX1 PITX1 LHX3 ASS1 POU1F1
8 respiratory system MP:0005388 9.1 CRH NEUROD1 HESX1 HSD11B1 MC4R PROP1

Drugs & Therapeutics for Acth Deficiency

Drugs for Acth Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 116)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Epinephrine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 51-43-4 5816
2
Hydrocortisone Approved, Vet_approved Phase 4,Phase 2,Phase 3 50-23-7 5754 657311
3
Cosyntropin Approved Phase 4 16960-16-0 16129617
4
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
5
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
6
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 11103-57-4, 68-26-8 445354
7
Butyric Acid Experimental Phase 4,Phase 2,Phase 3 107-92-6 264
8 beta-endorphin Phase 4,Phase 2
9 Adrenocorticotropic Hormone Phase 4,Phase 2,Phase 1
10 Cortisol succinate Phase 4,Phase 2,Phase 3
11 Hormone Antagonists Phase 4,Phase 2,Phase 3
12 Hormones Phase 4,Phase 2,Phase 3
13 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3
14 Hydrocortisone 17-butyrate 21-propionate Phase 4,Phase 2,Phase 3
15 Hydrocortisone acetate Phase 4,Phase 2,Phase 3
16 Epinephryl borate Phase 4,Phase 2,Phase 3,Phase 1
17 Vitamins Phase 4
18 Anti-Inflammatory Agents Phase 4,Phase 2,Phase 3
19 Racepinephrine Phase 4,Phase 2,Phase 3,Phase 1
20 Melanocyte-Stimulating Hormones Phase 4,Phase 2
21 Prednisolone acetate Phase 4
22 glucocorticoids Phase 4,Phase 2,Phase 3
23 Gastrointestinal Agents Phase 4
24 Neuroprotective Agents Phase 4
25 Trace Elements Phase 4
26 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Phase 1
27 Hydrocortisone-17-butyrate Phase 4,Phase 2,Phase 3
28 Immunoglobulin A Phase 4
29 Prednisolone hemisuccinate Phase 4
30 Prednisolone phosphate Phase 4
31 Protective Agents Phase 4
32 Antiemetics Phase 4
33 Retinol palmitate Phase 4
34 Methylprednisolone acetate Phase 4
35 Methylprednisolone Hemisuccinate Phase 4
36 Micronutrients Phase 4
37 Autonomic Agents Phase 4,Phase 2,Phase 3,Phase 1
38 Antineoplastic Agents, Hormonal Phase 4
39 Antioxidants Phase 4
40 retinol Nutraceutical Phase 4
41
Dexamethasone Approved, Investigational, Vet_approved Phase 2, Phase 3 50-02-2 5743
42
Testosterone Approved, Investigational Phase 3 58-22-0 6013
43
Methyltestosterone Approved Phase 3 58-18-4 6010
44
Prednisone Approved, Vet_approved Phase 2, Phase 3 53-03-2 5865
45
Lidocaine Approved, Vet_approved Phase 2, Phase 3 137-58-6 3676
46 Neurotransmitter Agents Phase 2, Phase 3,Phase 1
47 insulin Phase 2, Phase 3
48 Mydriatics Phase 2, Phase 3,Phase 1
49 Adrenergic Agents Phase 2, Phase 3,Phase 1
50 Adrenergic Agonists Phase 2, Phase 3,Phase 1

Interventional clinical trials:

(show all 35)
id Name Status NCT ID Phase
1 Determination of Method-specific Normal Cortisol and Adrenal Hormone Responses to the Short Synacthen Test Unknown status NCT00851942 Phase 4
2 Adrenal Cortical Function and Vitamin A Deficiency in Sepsis Completed NCT03152474 Phase 4
3 Treatment of Resistant Nephrotic Syndrome With ACTH Gel (ACTHAR) Completed NCT01129284 Phase 4
4 Modified-release Compared to Conventional Hydrocortisone on Diurnal Fatigue in Secondary Hypoadrenalism Enrolling by invitation NCT02282150 Phase 4
5 A Study to Evaluate the Efficacy of Somatropin in Adults With Growth Hormone Deficiency Caused by Trauma and/or Head Injury Terminated NCT00638053 Phase 4
6 Glucocorticoid Treatment in Addison's Disease Completed NCT01063569 Phase 2, Phase 3
7 Setmelanotide for the Treatment of Early-Onset POMC Deficiency Obesity Recruiting NCT02896192 Phase 2, Phase 3
8 Setmelanotide Phase 2 Treatment Trial in Patients With Rare Genetic Disorders of Obesity Recruiting NCT03013543 Phase 2, Phase 3
9 COrticosteroid in Congenital Adrenal Hyperplasia Recruiting NCT02552251 Phase 2, Phase 3
10 Effects of Interleukin-1 Beta on Low Testosterone Levels in Men With Obesity and Metabolic Syndrome Recruiting NCT02672592 Phase 3
11 Dynamic Hormone Diagnostics in Endocrine Disease Not yet recruiting NCT02934399 Phase 2, Phase 3
12 Leptin to Treat Lipodystrophy Completed NCT00005905 Phase 2
13 A Study to Explore the Safety and Tolerability of Acthar in Patients With Amyotrophic Lateral Sclerosis Completed NCT01906658 Phase 2
14 Role of Leptin in the Neuroendocrine and Immune Response to Fasting Completed NCT00140231 Phase 1, Phase 2
15 RM-493 Treatment Trial in Proopiomelanocortin (POMC) Deficient Patients Recruiting NCT02507492 Phase 2
16 A Study to Assess the Efficacy and Safety of H.P. Acthar® Gel in the Treatment of Subjects With Amyotrophic Lateral Sclerosis Not yet recruiting NCT03068754 Phase 2
17 Study to Evaluate Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of RM-493 Administered to Healthy, Obese, Non-diabetic Volunteers Completed NCT02431442 Phase 1
18 A Pilot Study of Potassium Supplementation for Adult Patients With Rheumatoid Arthritis Completed NCT00461448 Phase 1
19 Safety, Pharmacokinetics and Pharmacodynamics of NBI-77860 in Adolescent Females With Congenital Adrenal Hyperplasia Withdrawn NCT02349503 Phase 1
20 Cortisol Response to Adrenocorticotrophin (ACTH) in Acute Stress Unknown status NCT00493389
21 Epidural Analgesia, Beta-Endorphin Concentrations in Colostrum, and Infant Neurobehavior as Breast-Feeding Predictors Unknown status NCT01191970
22 Estromineral Serena Plus and Symptomatic Menopause Unknown status NCT01730989
23 Isolated ACTH Deficiency in Patients With Hashimoto Thyroiditis Completed NCT00552487
24 Adrenal Function in Critical Illness Completed NCT00156767
25 Drug Use Investigation of Somatropin for GHD-ADULTS. Completed NCT00601419
26 The Glucagon Stimulation Test for Evaluation of Adult Growth Hormone Deficiency and Adrenocorticotropic Axis Completed NCT01282164
27 Hypopituitarism After Aneurismal Subarachnoid Hemorrhage Completed NCT00962559
28 Ante-hypophyseal Dysfunctions in Children Following Moderate to Severe Traumatic Brain Injuries Recruiting NCT01250132
29 Mass Spectrometry Based Cutoffs for Cortisol After Stimulation Tests Recruiting NCT02818660
30 Inhalation/Nasal Corticosteroids and Prevalence of Hypothalamic-pituitary-adrenal (HPA) Axis Suppression in Human Immunodeficiency Virus (HIV)-Patients Recruiting NCT02501486
31 Chromosome 18 Clinical Research Center Recruiting NCT00227253
32 Adrenocortical Functions in Women With Nonclassical 21-hydroxylase Deficiency. Active, not recruiting NCT01862380
33 Maternal Serum Ferritin and Low Neonatal Birth Weight Active, not recruiting NCT02738463
34 Ascorbic Acid Treatment in Congenital Glucocorticoids and Mineralocorticoids Deficiency Due to NNT Mutation Enrolling by invitation NCT02838472
35 Cohort Study on Traditional Chinese Medicine Diagnosis and Treatment of Children With Henoch-Schonlein Purpura Nephritis Enrolling by invitation NCT02878018

Search NIH Clinical Center for Acth Deficiency

Genetic Tests for Acth Deficiency

Genetic tests related to Acth Deficiency:

id Genetic test Affiliating Genes
1 Acth Deficiency 29 24 TBX19

Anatomical Context for Acth Deficiency

MalaCards organs/tissues related to Acth Deficiency:

39
Pituitary, Testes, Thyroid, Brain, Hypothalamus, Bone

Publications for Acth Deficiency

Articles related to Acth Deficiency:

(show top 50) (show all 121)
id Title Authors Year
1
Hyponatremia can be a powerful predictor of the development of isolated ACTH deficiency associated with nivolumab treatment [Letter to the Editor]. ( 28070057 )
2017
2
Neonatal isolated ACTH deficiency (IAD): a potentially life-threatening but treatable cause of neonatal cholestasis. ( 27535729 )
2016
3
Isolated ACTH deficiency in a patient with empty sella as revealed by severe hyponatremia. ( 27176077 )
2016
4
Repeating ACTH Stimulation Test Is Necessary to Diagnose ACTH Deficiency in Neonatal Hypopituitarism With Initial False Negative Result. ( 27335928 )
2014
5
Acylated ghrelin as provocative test for the diagnosis of ACTH deficiency in patients with hypothalamus-pituitary disease. ( 25487034 )
2014
6
Sertraline alleviated osmophobia caused by partial hypopituitarism with isolated ACTH deficiency. ( 22902256 )
2013
7
Repeated hypoglycemia caused by the overproduction of anti-insulin antibodies and isolated ACTH deficiency in a type 2 diabetic patient receiving insulin therapy. ( 23349155 )
2013
8
Adult idiopathic isolated ACTH deficiency: a short series and literature review. ( 24463998 )
2013
9
Early-onset severe obesity with ACTH deficiency and red hair in a boy: the POMC deficiency. ( 23431750 )
2012
10
Phenotypic homogeneity and genotypic variability in a large series of congenital isolated ACTH-deficiency patients with TPIT gene mutations. ( 22170728 )
2012
11
Primary empty sella with isolated ACTH deficiency and microprolactinoma. ( 22329726 )
2012
12
Isolated ACTH deficiency presenting with a glucocorticoid-responsive triphasic wave coma. ( 22821112 )
2012
13
Isolated acquired ACTH deficiency and primary hypothyroidism: a short series and review. ( 19110973 )
2011
14
A novel mutation of LHX3 is associated with combined pituitary hormone deficiency including ACTH deficiency, sensorineural hearing loss, and short neck-a case report and review of the literature. ( 21249393 )
2011
15
Congenital ACTH deficiency as a cause of hypoglycemia in a newborn infant. ( 22121139 )
2011
16
Catecholamine-resistant shock and hypoglycemic coma after cardiotomy in a patient with unexpected isolated ACTH deficiency. ( 21400210 )
2011
17
ACTH deficiency and PGI(2) therapy in chronic thromboembolic pulmonary hypertension. ( 21093079 )
2011
18
Severe Hypoglycemia due to Isolated ACTH Deficiency in Children: A New Case Report and Review of the Literature. ( 21760815 )
2011
19
Patient with isolated adrenocorticotropic hormone (ACTH) deficiency who was depressive before glucocorticoid replacement, and exhibited stupor during continuous ACTH test. ( 21851467 )
2011
20
Clinical, biological and genetic analysis of 8 cases of congenital isolated adrenocorticotrophic hormone (ACTH) deficiency. ( 22028893 )
2011
21
A Case of Transient ACTH Deficiency Associated with Polymyalgia Rheumatica. ( 23946678 )
2010
22
Focal segmental glomerulosclerosis in a patient with isolated ACTH deficiency and reversible hypothyroidism. ( 19809785 )
2010
23
Pituicytoma and isolated ACTH deficiency. ( 19408127 )
2009
24
Torsade de pointes associated with recurrent ampulla cardiomyopathy in a patient with idiopathic ACTH deficiency. ( 19506326 )
2009
25
ACTH deficiency, higher doses of hydrocortisone replacement, and radiotherapy are independent predictors of mortality in patients with acromegaly. ( 19808848 )
2009
26
Gene symbol: TBX19. Disease: ACTH deficiency, isolated? ( 20960606 )
2008
27
Prevalence of maturity-onset isolated ACTH deficiency (IAD) in 2005: Japanese cohort studies. ( 18552459 )
2008
28
Isolated ACTH deficiency presenting as severe hypercalcaemia. ( 17371483 )
2007
29
May primary empty sella turcica be a cause of isolated ACTH deficiency? A case report and the review of related literature. ( 18063931 )
2007
30
A case of post-traumatic isolated ACTH deficiency with spontaneous recovery 9 months after the event. ( 16421141 )
2006
31
ACTH deficiency in childhood cancer survivors. ( 15700255 )
2005
32
Diagnosis and treatment of ACTH deficiency. ( 15711914 )
2005
33
An assessment of bone mineral density in patients with Addison's disease and isolated ACTH deficiency treated with glucocorticoid. ( 15256782 )
2004
34
[Tpit mutations reveal a new model of pituitary differentiation and account for isolated ACTH deficiency]. ( 15525497 )
2004
35
A syndrome with multiple malformations, mental retardation, and ACTH deficiency. ( 15054849 )
2004
36
A trial of intranasal ACTH(1-24) administration to a patient with isolated ACTH deficiency. ( 14737049 )
2004
37
Isolated ACTH deficiency with Graves' disease: a case report. ( 15004417 )
2004
38
A neonatal form of isolated ACTH deficiency frequently associated with Tpit gene mutations. ( 15666849 )
2004
39
TPIT mutations are associated with early-onset, but not late-onset isolated ACTH deficiency. ( 15476446 )
2004
40
Conventional glucocorticoid replacement overtreats adult hypopituitary patients with partial ACTH deficiency. ( 15163331 )
2004
41
Isolated ACTH deficiency associated with Crohn's disease. ( 15762046 )
2004
42
Expression of hypothalamic corticotropin-releasing hormone-like immunoreactivity in isolated ACTH deficiency: a report of an autopsied case. ( 12952371 )
2003
43
Human and mouse TPIT gene mutations cause early onset pituitary ACTH deficiency. ( 12651888 )
2003
44
Preclinical Cushing's syndrome presenting with isolated adrenocorticotropin (ACTH) deficiency-like manifestations and severe hypoalbuminemia without overt adrenal masses in a patient with Chilaiditi syndrome and mental retardation. ( 12793711 )
2003
45
T-box and isolated ACTH deficiency. ( 11916612 )
2002
46
Does radiation therapy for brain tumor affect pituitary function, resulting in isolated ACTH deficiency? ( 12135170 )
2002
47
Effect of ACTH on renal excretion of purine bases in a patient with isolated ACTH deficiency. ( 10727684 )
2000
48
A case of isolated ACTH deficiency who developed autoimmune-mediated hypothyroidism and impaired water diuresis during glucocorticoid replacement therapy. ( 11228040 )
2000
49
A case of isolated ACTH deficiency presenting with hypercalcaemia. ( 11220994 )
2000
50
Diagnosis of ACTH deficiency. Comparison of overnight metyrapone test to either low-dose or high-dose ACTH test. ( 10681636 )
1999

Variations for Acth Deficiency

ClinVar genetic disease variations for Acth Deficiency:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TBX19 NM_005149.2(TBX19): c.856C> T (p.Arg286Ter) single nucleotide variant Pathogenic rs74315376 GRCh37 Chromosome 1, 168274374: 168274374
2 TBX19 NM_005149.2(TBX19): c.383C> T (p.Ser128Phe) single nucleotide variant Pathogenic rs74315377 GRCh37 Chromosome 1, 168260577: 168260577
3 TBX19 NM_005149.2(TBX19): c.257T> G (p.Met86Arg) single nucleotide variant Pathogenic rs74315378 GRCh37 Chromosome 1, 168260451: 168260451
4 TBX19 NM_005149.2(TBX19): c.782delA (p.Asn261Ilefs) deletion Pathogenic rs730880274 GRCh37 Chromosome 1, 168274300: 168274300

Expression for Acth Deficiency

Search GEO for disease gene expression data for Acth Deficiency.

Pathways for Acth Deficiency

Pathways related to Acth Deficiency according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.66 CRH MC4R POMC
2 11.3 CRH POMC TBX19
3 11.05 POMC POU1F1 PRL
4 10.49 MC4R POMC
5 9.47 CRH POMC

GO Terms for Acth Deficiency

Cellular components related to Acth Deficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 endosome lumen GO:0031904 9.16 GH1 PRL
2 secretory granule GO:0030141 9.13 POMC PRL TRH
3 transcription factor complex GO:0005667 8.92 LHX3 PITX1 POU1F1 PROP1

Biological processes related to Acth Deficiency according to GeneCards Suite gene sharing:

(show all 14)
id Name GO ID Score Top Affiliating Genes
1 transcription from RNA polymerase II promoter GO:0006366 9.83 LHX3 NEUROD1 PITX1 POU1F1 PROP1
2 response to ethanol GO:0045471 9.69 CRH PRL TRH
3 lung development GO:0030324 9.63 CRH HSD11B1 LHX3
4 peptide hormone processing GO:0016486 9.54 PCSK1 POMC
5 positive regulation of JAK-STAT cascade GO:0046427 9.52 GH1 PRL
6 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.5 LHX3 NEUROD1 PITX1 POMC POU1F1 PROP1
7 response to corticosterone GO:0051412 9.49 CRH TRH
8 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.48 GH1 PRL
9 parturition GO:0007567 9.4 CRH PRL
10 adenohypophysis development GO:0021984 9.37 POU1F1 PROP1
11 glucocorticoid biosynthetic process GO:0006704 9.32 CRH HSD11B1
12 negative regulation of feeding behavior GO:2000252 9.26 MC4R TRH
13 somatotropin secreting cell differentiation GO:0060126 9.16 POU1F1 PROP1
14 pituitary gland development GO:0021983 9.02 HESX1 LHX3 PITX1 POU1F1 TBX19

Molecular functions related to Acth Deficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.71 HESX1 NEUROD1 POU1F1 PROP1
2 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0001077 9.67 LHX3 NEUROD1 PITX1 POU1F1
3 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000978 9.65 HESX1 LHX3 NEUROD1 PITX1 POU1F1
4 sequence-specific DNA binding GO:0043565 9.63 HESX1 LHX3 NEUROD1 PITX1 POU1F1 PROP1
5 RNA polymerase II transcription factor binding GO:0001085 9.5 LHX3 PITX1 POU1F1
6 hormone activity GO:0005179 9.02 CRH GH1 POMC PRL TRH
7 prolactin receptor binding GO:0005148 8.96 GH1 PRL

Sources for Acth Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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