ATP7A, ATPase copper transporting alpha, 538

N. diseases: 348; N. variants: 107
Disease: Neurologic Symptoms ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0235031
Disease: Neurologic Symptoms
Neurologic Symptoms 		0.320 GeneticVariation group BEFREE He has few neurological symptoms without connective tissue disturbances; and a missense ATP7A variant, p.(Pro852Leu), which results in impaired protein trafficking while the copper transport function is spared. 28657131 2017
CUI: C0235031
Disease: Neurologic Symptoms
Neurologic Symptoms 		0.320 Biomarker group CTD_human Maternofetal and neonatal copper requirements revealed by enterocyte-specific deletion of the Menkes disease protein. 23064757 2012
CUI: C0235031
Disease: Neurologic Symptoms
Neurologic Symptoms 		0.320 Biomarker group CTD_human Prenatal treatment of mosaic mice (Atp7a mo-ms) mouse model for Menkes disease, with copper combined by dimethyldithiocarbamate (DMDTC). 22815746 2012
CUI: C0235031
Disease: Neurologic Symptoms
Neurologic Symptoms 		0.320 GeneticVariation group BEFREE Based on review of X-inactivation patterns in female carriers of other X-linked recessive diseases, our findings imply that substantial expression of a mutant ATP7A at the expense of the normal allele could be associated with neurologic symptoms in female carriers of Menkes disease and its allelic variants, occipital horn syndrome, and ATP7A-related distal motor neuropathy. 20497190 2011