ATP7A, ATPase copper transporting alpha, 538

N. diseases: 348; N. variants: 107
Disease: Hypocupremia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268070
Disease: Hypocupremia
Hypocupremia 		0.100 GeneticVariation disease BEFREE Menkes disease is an X-linked recessive inherited disease caused by pathogenic variants in ATP7A, which leads to profound copper deficiency. 31250568 2019
CUI: C0268070
Disease: Hypocupremia
Hypocupremia 		0.100 Biomarker disease BEFREE Moreover, LC dysfunction caused by copper deficiency from ATP7A disruption can be rescued by restoring synaptic levels of NE, establishing a molecular CTR1-ATP7A-DBH-NE axis for copper-dependent LC function. 29867144 2018
CUI: C0268070
Disease: Hypocupremia
Hypocupremia 		0.100 GeneticVariation disease BEFREE This model allows to explore changes in iron metabolism in suckling mutant mice suffering from systemic copper deficiency as well as in young and adult ones undergone copper therapy, which reduces lethal effect of the Atp7a gene mutation. 28219768 2017
CUI: C0268070
Disease: Hypocupremia
Hypocupremia 		0.100 Biomarker disease BEFREE Here, we identify a mechanism by which organismal copper homeostasis is maintained by intestinal copper exporter trafficking that is coordinated with extraintestinal copper levels in Caenorhabditis elegans Specifically, we show that CUA-1, the C. elegans homolog of ATP7A/B, localizes to lysosome-like organelles (gut granules) in the intestine under copper overload conditions for copper detoxification, whereas copper deficiency results in a redistribution of CUA-1 to basolateral membranes for copper efflux to peripheral tissues. 27881675 2017
CUI: C0268070
Disease: Hypocupremia
Hypocupremia 		0.100 Biomarker disease BEFREE Menkes disease, involving ATP7A, is a fatal neurodegenerative disorder of copper deficiency. 26747866 2016
CUI: C0268070
Disease: Hypocupremia
Hypocupremia 		0.100 Biomarker disease BEFREE Copper disorders are divided into two classes: ATP7A- or ATP7B-related inherited copper transport disorders (Menkes disease, occipital horn syndrome, ATP7A-related distal motor neuropathy, and Wilson disease) and acquired diseases associated with copper deficiency or copper excess. 24365357 2014
CUI: C0268070
Disease: Hypocupremia
Hypocupremia 		0.100 GeneticVariation disease BEFREE Mutations in the genes encoding ATP7A and ATP7B lead to copper deficiency and copper toxicity disorders, Menkes and Wilson diseases, respectively. 22130675 2012
CUI: C0268070
Disease: Hypocupremia
Hypocupremia 		0.100 GeneticVariation disease BEFREE Menkes disease (MD) and occipital horn syndrome (OHS) are allelic X-linked recessive copper deficiency disorders resulting from ATP7A gene mutations. 21208200 2011
CUI: C0268070
Disease: Hypocupremia
Hypocupremia 		0.100 Biomarker disease BEFREE L1373 at the end of transmembrane domain 8 is required for protein stability and Golgi retention in low copper, the trileucine motif (L1454-L1456) is required for retrograde trafficking, and the COOH terminus of ATP7B exhibits a higher sensitivity to copper than does ATP7A. 21454443 2011
CUI: C0268070
Disease: Hypocupremia
Hypocupremia 		0.100 GeneticVariation disease BEFREE Mutations in the genes encoding ATP7A and ATP7B lead to copper deficiency and toxicity disorders, Menkes and Wilson diseases, respectively. 21242307 2011
CUI: C0268070
Disease: Hypocupremia
Hypocupremia 		0.100 GeneticVariation disease BEFREE Although ATP7A mutations are typically associated with severe Menkes disease or its milder allelic variant, occipital horn syndrome, we demonstrate here that certain missense mutations at this locus can cause a syndrome restricted to progressive distal motor neuropathy without overt signs of systemic copper deficiency. 20170900 2010
CUI: C0268070
Disease: Hypocupremia
Hypocupremia 		0.100 GeneticVariation disease BEFREE Mutations in ATP7A can lead to Menkes disease which is an X-linked disorder of copper deficiency. 18688737 2008
CUI: C0268070
Disease: Hypocupremia
Hypocupremia 		0.100 GeneticVariation disease BEFREE The first contains a viable hypomorphic allele of atp7a and results in a loss of pigmentation when exposed to mild nutritional copper deficiency. 19008952 2008
CUI: C0268070
Disease: Hypocupremia
Hypocupremia 		0.100 GeneticVariation disease BEFREE Mutations in ATP7A or ATP7B disrupt the homeostatic copper balance, resulting in copper deficiency (Menkes disease) or copper overload (Wilson disease), respectively. 17717039 2007
CUI: C0268070
Disease: Hypocupremia
Hypocupremia 		0.100 GeneticVariation disease BEFREE We hypothesized that gene expression changes in a MD patient with a lethal ATP7A mutation would indicate pathophysiological cascades relevant to the effects of copper deficiency in the developing brain. 15923132 2005
CUI: C0268070
Disease: Hypocupremia
Hypocupremia 		0.100 GeneticVariation disease BEFREE Adequate supplies of copper are particularly important in developing animals, and in humans this is illustrated by mutations of ATP7A that cause the copper deficiency condition Menkes disease, which is fatal in early childhood. 12730448 2003
CUI: C0268070
Disease: Hypocupremia
Hypocupremia 		0.100 GeneticVariation disease BEFREE Menkes disease is an X-linked recessive copper deficiency disorder caused by mutations in the ATP7A (MNK) gene. 11092760 2000
CUI: C0268070
Disease: Hypocupremia
Hypocupremia 		0.100 GeneticVariation disease BEFREE Menkes disease is an X-linked recessive copper deficiency disorder caused by mutations in the ATP7A ( MNK ) gene which encodes a copper transporting P-type ATPase (MNK). 10484781 1999