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 CTD_human Hypertrophic cardiomyopathy during corticotropin therapy for infantile spasms. A clinical and echocardiographic study. 8381257 1993
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 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 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 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 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 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 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 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 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 ACTH-induced seizures in an infant with West syndrome. 2554740 1989
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 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 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 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 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 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 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 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 Biomarker 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 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 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 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 Therapeutic 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 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