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 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 Adrenocorticotropic hormone (ACTH) was a treatment of choice, and even in relapse of WS after ACTH therapy, the patients well responded to antiepileptic drugs. 11701255 2001
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
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 CTD_human ACTH-induced seizures in an infant with West syndrome. 2554740 1989
CUI: C0037769
Disease: West Syndrome
West Syndrome
0.400 Therapeutic disease CTD_human ACTH-induced seizures in an infant with West syndrome. 2554740 1989
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 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 Therapeutic disease CTD_human ACTH therapy in infantile spasms: side effects. 6254450 1980
CUI: C0037769
Disease: West Syndrome
West Syndrome
0.400 Biomarker disease CTD_human ACTH therapy in infantile spasms: side effects. 6254450 1980
CUI: C0037769
Disease: West Syndrome
West Syndrome
0.400 Therapeutic disease CTD_human A fatal incident during combined anticonvulsive therapy with ACTH and Dexamethason prompted us to reevaluate our treatment results in 19 children suffering from infantile spasms. 2983143 1985
CUI: C0037769
Disease: West Syndrome
West Syndrome
0.400 Biomarker disease CTD_human A fatal incident during combined anticonvulsive therapy with ACTH and Dexamethason prompted us to reevaluate our treatment results in 19 children suffering from infantile spasms. 2983143 1985
CUI: C0037769
Disease: West Syndrome
West Syndrome
0.400 Therapeutic disease CTD_human A one-year-old boy presented with hypercalciuria and nephrolithiasis following a course of ACTH therapy for infantile spasms. 1324751 1992
CUI: C0037769
Disease: West Syndrome
West Syndrome
0.400 Biomarker disease CTD_human A one-year-old boy presented with hypercalciuria and nephrolithiasis following a course of ACTH therapy for infantile spasms. 1324751 1992
CUI: C0037769
Disease: West Syndrome
West Syndrome
0.400 Biomarker disease BEFREE At age 6 months, the infant demonstrated infantile spasms and craniosynostosis and was operated on for craniosynostosis and treated with adrenocorticotropic hormone (ACTH) for the infantile spasms. 14636357 2003
CUI: C0037769
Disease: West Syndrome
West Syndrome
0.400 Therapeutic 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 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 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 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 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 Therapeutic 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
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
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 Therapeutic disease CTD_human Hormonal background of the hypertension and fluid derangements associated with adrenocorticotrophic hormone treatment of infants. 2551692 1989
CUI: C0037769
Disease: West Syndrome
West Syndrome
0.400 Biomarker disease CTD_human Hormonal background of the hypertension and fluid derangements associated with adrenocorticotrophic hormone treatment of infants. 2551692 1989