POMC, proopiomelanocortin, 5443

N. diseases: 873; N. variants: 39
Disease: West Syndrome ×
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 CTD_human [Treatment of infantile spasms with long-term low dose ACTH]. 1327015 1992
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.400 Therapeutic 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 CTD_human [Secondary myocardial hypertrophy in newborn infants and infants without congenital heart defect]. 2853496 1988
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.400 Therapeutic disease CTD_human [Secondary myocardial hypertrophy in newborn infants and infants without congenital heart defect]. 2853496 1988
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 Therapeutic 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 CTD_human [Hypertrophic myocardiopathy during the corticotropin treatment of infantile spasms]. 8928979 1996
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.400 Therapeutic 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 [Cardiac hypertrophy associated with subaortic obstruction induced by adrenocorticotropic hormone treatment]. 1965992 1990
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.400 Therapeutic disease CTD_human [Cardiac hypertrophy associated with subaortic obstruction induced by adrenocorticotropic hormone treatment]. 1965992 1990
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 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 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 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 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 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, 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 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 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 AlteredExpression disease BEFREE These results suggest that ACTH(1-24) administrated in West syndrome may influence the expression of neurotrophic factors in astrocytes in vivo. 12438675 2002
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.400 Therapeutic disease CTD_human The seizures occurred following the suppression of infantile spasms with adrenocorticotropic hormone therapy and disappeared following the cessation of clonazepam administration. 1656808 1991
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.400 Biomarker disease CTD_human The seizures occurred following the suppression of infantile spasms with adrenocorticotropic hormone therapy and disappeared following the cessation of clonazepam administration. 1656808 1991
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.400 Biomarker disease BEFREE The patient's spasms and hypsarrhythmia disappeared after a course of adrenocorticotropic hormone therapy, but focal seizures reappeared at the age of 3 years and 3 months. 19264735 2009
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 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