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: C0036572
Disease: Seizures
Seizures
0.400 Biomarker phenotype BEFREE She developed tonic seizures and epileptic spasms at 6 months of age and was diagnosed with symptomatic West syndrome and underwent adrenocorticotropic hormone therapy but her seizures were refractory. 31492455 2020
CUI: C0036572
Disease: Seizures
Seizures
0.400 Biomarker phenotype BEFREE However, relapse rates were 16% (KD) and 43% (ACTH, P = 0.09), and seizure freedom at last follow-up was 40% (KD) and 27% (ACTH, P = 0.18). 30801699 2019
CUI: C0036572
Disease: Seizures
Seizures
0.400 Biomarker phenotype BEFREE Antiepileptic drugs, namely oxcarbazepine, phenytoin, valproate, levetiracetam, and clonazepam, as well as adrenocorticotropic hormone therapy failed to reduce the severity of the seizures. 29625812 2018
CUI: C0036572
Disease: Seizures
Seizures
0.400 Biomarker phenotype BEFREE Adrenocorticotropic hormone therapy may achieve partial or complete remission of seizures, but the effect is usually temporary. 30194038 2018
CUI: C0036572
Disease: Seizures
Seizures
0.400 Biomarker phenotype BEFREE Administration of adrenocorticotropic hormone (ACTH) for seizure control was statistically significant compared to other antiepileptic drugs (p < 0.05). 28140735 2017
CUI: C0036572
Disease: Seizures
Seizures
0.400 Biomarker phenotype BEFREE Seizures were controlled in a few weeks with intramuscular synthetic ACTH, followed by valproic acid. 25500573 2015
CUI: C0036572
Disease: Seizures
Seizures
0.400 Biomarker phenotype BEFREE To maintain efficacy, we treated two children with intractable epilepsy with weekly ACTH therapy for 1 year and described the changes in clinical seizures, electroencephalograms, developmental assessments and side effects. 25149137 2015
CUI: C0036572
Disease: Seizures
Seizures
0.400 AlteredExpression phenotype BEFREE ACTH therapy was introduced, resulting in a significant improvement in EEG activity and gradual reduction in seizure frequency, with cessation at age 13 weeks.[Published with video sequences]. 23774309 2013
CUI: C0036572
Disease: Seizures
Seizures
0.400 Biomarker phenotype BEFREE The administration of adrenocorticotropic hormone was partially effective for stopping the condition, and the seizure type evolved into brief tonic seizures at 6 months. 22656320 2013
CUI: C0036572
Disease: Seizures
Seizures
0.400 Biomarker phenotype BEFREE Despite trials of antiepileptic drugs (mean, 5; range, 3-7), steroids/adrenocorticotropic hormone (4/6; 67%), and the ketogenic diet (6/6; 100%), all children manifested refractory seizures at last follow-up. 22264704 2012
CUI: C0036572
Disease: Seizures
Seizures
0.400 Biomarker phenotype BEFREE Adrenocorticotropic hormone (ACTH) has been used as the major therapy for infantile spasms since 1958 because it effectively suppresses seizures; it also normalizes the electroencephalogram in the short-term treatment of infantile spasms. 20722663 2010
CUI: C0036572
Disease: Seizures
Seizures
0.400 Biomarker phenotype BEFREE ACTH completely controlled the seizures, but was halted because of the progression of ventricular hypertrophy. 14636357 2003
CUI: C0036572
Disease: Seizures
Seizures
0.400 Biomarker phenotype BEFREE ACTH therapy resulted in prompt remission of seizures and resolution of EEG abnormalities. 8888053 1996
CUI: C0036572
Disease: Seizures
Seizures
0.400 Therapeutic phenotype 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: C0036572
Disease: Seizures
Seizures
0.400 Biomarker phenotype 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: C0036572
Disease: Seizures
Seizures
0.400 Biomarker phenotype CTD_human The features of these are 1) late onset of seizures, 2) good response to ACTH therapy, 3) no significant abnormalities of brain except for agenesis of corpus callosum. 2169275 1990
CUI: C0036572
Disease: Seizures
Seizures
0.400 Therapeutic phenotype CTD_human The features of these are 1) late onset of seizures, 2) good response to ACTH therapy, 3) no significant abnormalities of brain except for agenesis of corpus callosum. 2169275 1990
CUI: C0036572
Disease: Seizures
Seizures
0.400 Therapeutic phenotype CTD_human Therefore, we considered that the new brief tonic seizures, which appeared only during sleep in the course of ACTH therapy, were ACTH-induced seizures. 2554740 1989
CUI: C0036572
Disease: Seizures
Seizures
0.400 Biomarker phenotype CTD_human Therefore, we considered that the new brief tonic seizures, which appeared only during sleep in the course of ACTH therapy, were ACTH-induced seizures. 2554740 1989
CUI: C0036572
Disease: Seizures
Seizures
0.400 Biomarker phenotype CTD_human Cardiac hypertrophy associated with ACTH therapy for childhood seizure disorder. 2821097 1987
CUI: C0036572
Disease: Seizures
Seizures
0.400 Therapeutic phenotype CTD_human Cardiac hypertrophy associated with ACTH therapy for childhood seizure disorder. 2821097 1987
CUI: C0036572
Disease: Seizures
Seizures
0.400 Biomarker phenotype CTD_human [Modalities and side effects of ACTH therapy of diffuse epilepsy in children]. 6324019 1984
CUI: C0036572
Disease: Seizures
Seizures
0.400 Therapeutic phenotype CTD_human [Modalities and side effects of ACTH therapy of diffuse epilepsy in children]. 6324019 1984
CUI: C0036572
Disease: Seizures
Seizures
0.400 Therapeutic phenotype CTD_human Lower doses of systemic morphine (50 mg/kg) were necessary to block i.c.v. morphine seizures than the dose (100 mg/kg) necessary to block seizures induced by i.c.v.Leu-enkephalin and beta-endorphin. 7127082 1982
CUI: C0036572
Disease: Seizures
Seizures
0.400 Biomarker phenotype CTD_human Lower doses of systemic morphine (50 mg/kg) were necessary to block i.c.v. morphine seizures than the dose (100 mg/kg) necessary to block seizures induced by i.c.v.Leu-enkephalin and beta-endorphin. 7127082 1982