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 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 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 GeneticVariation disease BEFREE This study was to elucidate the possible associations between the variations of the MC2R gene and ACTH responsiveness in patients with infantile spasms. 19024088 2008
CUI: C0037769
Disease: West Syndrome
West Syndrome
0.400 Biomarker disease CTD_human [Treatment of infantile spasms with long-term low dose ACTH]. 1327015 1992
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 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 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 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 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 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 CTD_human In spite of conflicting views as to the long-term effects of ACTH, prompt treatment seems to be mandatory, at least in cryptogenic cases of infantile spasms. 6259007 1981
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 CTD_human Cardiac vagal activation by adrenocorticotropic hormone treatment in infants with West syndrome. 17287597 2007
CUI: C0037769
Disease: West Syndrome
West Syndrome
0.400 Biomarker disease CTD_human [Lethal side effects from ACTH-therapy in infantile spasm (author's transl)]. 6107850 1980
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 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 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 CTD_human [Hypertrophic myocardiopathy during the corticotropin treatment of infantile spasms]. 8928979 1996
CUI: C0037769
Disease: West Syndrome
West Syndrome
0.400 Biomarker disease CTD_human Images in cardiology. Enlargement of cardiac rhabdomyoma and myocardial ischaemia during corticotropin treatment for infantile spasm. 10908253 2000
CUI: C0037769
Disease: West Syndrome
West Syndrome
0.400 Biomarker disease CTD_human Renal and pancreatic calcification during treatment of infantile spasms with ACTH. 6143199 1984
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 CTD_human The CSF levels of beta-EP and ACTH were significantly lower in patients with IS than those in the controls. 11341487 2001
CUI: C0037769
Disease: West Syndrome
West Syndrome
0.400 Biomarker disease CTD_human Pediatricians should be aware that cardiac dysfunction could be associated with ACTH therapy for West syndrome. 19039989 2008
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 CTD_human Given the very poor prognosis of infantile spasms especially in such conditions as cerebral palsy, the combination of ACTH and vigabatrin appears to be an interesting therapy advance with very few side effects. 8980841 1997