POMC, proopiomelanocortin, 5443

N. diseases: 873; N. variants: 39
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037769
Disease: West Syndrome
West Syndrome
0.400 Biomarker disease BEFREE Incidence of Hypertension Among Children Treated With Adrenocorticotropic Hormone (ACTH) or Prednisolone for Infantile Spasms. 31769329 2020
CUI: C0037769
Disease: West Syndrome
West Syndrome
0.400 Biomarker disease BEFREE Comparison of efficacies of zonisamide versus adrenocorticotropic hormone was as following: the cessation of epileptic spasms (27% vs. 40%, p = 0.70), resolution of hypsarrhythmia at 14 days (20% vs. 33%, p = 0.68) and resolution of hypsarrhythmia at 6 weeks (36% vs. 71%, p = 0.14). 30293931 2019
CUI: C0037769
Disease: West Syndrome
West Syndrome
0.400 Biomarker disease BEFREE Thus, AQB-565 may represent a novel treatment of infantile spasms similarly effective as ACTH but with potentially limited side effects. 30875634 2019
CUI: C0037769
Disease: West Syndrome
West Syndrome
0.400 Biomarker disease BEFREE West Syndrome pharmacological treatment usually consists in antiepileptic drugs and/or ACTH. 31724502 2019
CUI: C0037769
Disease: West Syndrome
West Syndrome
0.400 Biomarker disease BEFREE Efficacy and tolerability of the ketogenic diet versus high-dose adrenocorticotropic hormone for infantile spasms: A single-center parallel-cohort randomized controlled trial. 30801699 2019
CUI: C0037769
Disease: West Syndrome
West Syndrome
0.400 Biomarker disease BEFREE Very-High-Dose Prednisolone Before ACTH for Treatment of Infantile Spasms: Evaluation of a Standardized Protocol. 31331669 2019
CUI: C0037769
Disease: West Syndrome
West Syndrome
0.400 Biomarker disease BEFREE Effectiveness of corticosteroids versus adrenocorticotropic hormone for infantile spasms: a systematic review and meta-analysis. 31657133 2019
CUI: C0037769
Disease: West Syndrome
West Syndrome
0.400 Biomarker disease BEFREE The OR point estimate showed the superiority of adrenocorticotropic hormone over all comparators in infantile spasms. 29270989 2018
CUI: C0037769
Disease: West Syndrome
West Syndrome
0.400 Biomarker disease BEFREE Serial Analysis of Multiple Serum Cytokine Responses to Adrenocorticotropic Hormone Therapy in Patients With West Syndrome. 29724126 2018
CUI: C0037769
Disease: West Syndrome
West Syndrome
0.400 Biomarker disease BEFREE Since ACTH, the first line treatment for IS, has inconsistent efficacy and potential harsh side effects, PMX53, a potent complement C5ar1 antagonist, was suggested as a therapeutic alternative given its effects in other epilepsy models. 29636502 2018
CUI: C0037769
Disease: West Syndrome
West Syndrome
0.400 Biomarker disease BEFREE Adrenocorticotropic hormone (ACTH), vigabatrin (VGB) and corticosteroids are the first-line treatments for WS. 29086890 2018
CUI: C0037769
Disease: West Syndrome
West Syndrome
0.400 Biomarker disease BEFREE Topiramate, levetiracetam, zonisamide, and sodium valproate with benzodiazepine (clonazepam or nitrazepam) were found to be potential drugs for treating West syndrome besides adrenocorticotropic hormone, steroids, and vigabatrin. 28288483 2017
CUI: C0037769
Disease: West Syndrome
West Syndrome
0.400 Biomarker disease BEFREE The current treatment options include hormonal treatment (adrenocorticotropic hormone and high-dose steroids) and the GABA aminotransferase inhibitor vigabatrin, while ketogenic diet can be given as add-on treatment in refractory IS. 28427564 2017
CUI: C0037769
Disease: West Syndrome
West Syndrome
0.400 Biomarker disease BEFREE Adrenocorticotropic hormone (ACTH) is the only medicine for treating infantile spasms, however, it is catabolized rapidly. 28127707 2017
CUI: C0037769
Disease: West Syndrome
West Syndrome
0.400 Biomarker disease BEFREE Infants with hypsarrhythmia were more likely to receive standard treatment (adrenocorticotropic hormone, prednisolone, or vigabatrin [odds ratio (OR) 2.6, 95% confidence interval (CI) 1.4-4.7] and preexisting epilepsy reduced the likelihood of standard treatment (OR 3.2, 95% CI 1.9-5.4). 29105055 2017
CUI: C0037769
Disease: West Syndrome
West Syndrome
0.400 Biomarker disease BEFREE We encountered a 2-month-old boy with infantile spasms that had been treated with ACTH and had developed complicating Fournier's gangrene. 28007393 2017
CUI: C0037769
Disease: West Syndrome
West Syndrome
0.400 GeneticVariation disease BEFREE Infants with untreated West syndrome were randomized to receive 14 days of prednisolone (40 to 60 mg/day) or intramuscular long-acting ACTH (40 to 60 IU every other day). 28927673 2017
CUI: C0037769
Disease: West Syndrome
West Syndrome
0.400 Biomarker disease BEFREE Her infantile spasms and hypsarrhythmia disappeared promptly by adrenocorticotropic hormone therapy (CORTROSYN®Z, 0.0125mg/kg/day daily for 2weeks intramuscularly), though the administration of pyridoxal phosphate and valproic acid had poor efficacy. 28551038 2017
CUI: C0037769
Disease: West Syndrome
West Syndrome
0.400 AlteredExpression disease BEFREE We conducted a retrospective, chart review of IS cases that were treated with biologic short-acting ACTH and followed up for at least 6 months at a single center in China between June 2010 and June 2016. 28421469 2017
CUI: C0037769
Disease: West Syndrome
West Syndrome
0.400 Biomarker disease BEFREE Adrenocorticotropic hormone (ACTH) therapy is the first-line therapy for infantile spasms, and is effective for many other intractable epilepsies. 25149137 2015
CUI: C0037769
Disease: West Syndrome
West Syndrome
0.400 Biomarker disease BEFREE In addition, we also found that a 4-SNP haplotype (CAGC) which contains the aforementioned 2 SNPs, was associated with increased responsiveness to ACTH therapy in IS (p = 0.018, OR = 4.8) under recessive model. 25268096 2014
CUI: C0037769
Disease: West Syndrome
West Syndrome
0.400 GeneticVariation disease BEFREE In the present study, the contribution of 5-HTT polymorphisms to the risk of infantile spasm (IS) and the responsiveness to adrenocorticotropic hormone (ACTH) were investigated. 23775678 2013
CUI: C0037769
Disease: West Syndrome
West Syndrome
0.400 Therapeutic disease CTD_human Vigabatrin and ACTH showed no significant difference in the initial treatment of infantile spasms. 20078871 2010
CUI: C0037769
Disease: West Syndrome
West Syndrome
0.400 Biomarker disease BEFREE Thus, it may be a candidate gene to be tested for responsiveness to ACTH in infantile spasms. 20722663 2010
CUI: C0037769
Disease: West Syndrome
West Syndrome
0.400 Biomarker disease BEFREE Adrenocorticotropin hormone (ACTH) has been the standard treatment to infantile spasms (IS). 20042918 2010