ATP7A, ATPase copper transporting alpha, 538

N. diseases: 348; N. variants: 107
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 GeneticVariation disease BEFREE Mutations in ATP7A lead to at least three allelic disorders: Menkes disease (MD), Occipital horn syndrome and X-linked distal motor neuropathy. 25172213 2015
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 GeneticVariation disease BEFREE While the spectrum of mutations detected in the Atp7a murine gene provides an explanation for at least part of the wide phenotypic variation observed in mottled mutant mice, there is a singular absence of deletions which are associated with a sizeable fraction of human Menkes syndrome cases. 9147646 1997
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 GeneticVariation disease BEFREE Disturbed copper transport in humans. Part 1: mutations of the ATP7A gene lead to Menkes disease and occipital horn syndrome. 11936860 2001
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 GeneticVariation disease BEFREE Here, we analyzed changes in the systemic iron metabolism using an animal model of Menkes disease: copper-deficient mosaic mutant mice with dysfunction of the ATP7A copper transporter. 25247420 2014
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 GeneticVariation disease BEFREE Solution structures of the reduced and Cu(I) bound forms of the first metal binding sequence of ATP7A associated with Menkes disease. 16211579 2005
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 GeneticVariation disease 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
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 GeneticVariation disease LHGDN Clinical outcomes in Menkes disease patients with a copper-responsive ATP7A mutation, G727R. 18752978 2008
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 GeneticVariation disease BEFREE Molecular analysis revealed hemizygous deletion mutation of ATP7A previously reported in classical MD. 31109608 2019
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 GeneticVariation disease BEFREE Menkes disease is caused by mutations in the copper-transporting P(1B)-type ATPase ATP7A. 17989919 2008
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 GeneticVariation disease BEFREE Menkes disease (MD) is a rare X-linked recessive disorder caused by mutations in the ATP7A gene. 26239182 2015
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 GeneticVariation disease BEFREE We describe a child with classical Menkes disease with a novel ATP7A mutation, intractable seizures, severe hypotonia and developmental delay, hypopigmentation of the skin and hair, and failure to thrive, who was treated with daily subcutaneous copper histidine injections for 2(1/2) years, beginning at 15 months of age. 16098018 2005
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 GeneticVariation disease BEFREE Despite the deletion, eliminating the first of six metal-binding domains in ATP7A, no signs for Menkes disease or occipital horn syndrome associated with ATP7A mutations were found in male carriers. 26242992 2016
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 GeneticVariation disease BEFREE A candidate gene for WD (ATP7B) has recently been identified based upon apparent disease-specific mutations and a striking amino acid homology to the gene (ATP7A) responsible for another human copper transport disorder, X-linked Menkes disease (MNK). 7833924 1994
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 GeneticVariation disease BEFREE Impaired intestinal transport of copper, resulting from mutations in the ATP7A gene, lead to Menkes disease in humans. 12539960 2002
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 GeneticVariation disease BEFREE In utero copper treatment for Menkes disease associated with a severe ATP7A mutation. 22695177 2012
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 GeneticVariation disease BEFREE Menkes disease (MD) is caused by mutations in the ATP7A gene. 21494555 2011
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 GeneticVariation disease CLINVAR
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 GeneticVariation disease BEFREE Menkes disease is an X-linked copper deficiency disorder that results from mutations in the ATP7A ( MNK ) gene. 10332039 1999
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 GeneticVariation disease BEFREE In all these patients, an identical missense mutation in the ATP7A gene was found and confirmed Menkes' disease. 15238919 2004
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 GeneticVariation disease BEFREE Severe ATP7A loss-of-function alleles trigger Menkes disease, a copper deficiency condition where systemic and neurodegenerative phenotypes dominate clinical outcomes. 25583185 2015
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 GeneticVariation disease BEFREE Mutations in ATP7A may cause three distinct X-linked conditions in infants, children, or adolescents: Menkes disease, occipital horn syndrome (OHS), and a newly identified allelic variant restricted to motor neurons called X-linked distal hereditary motor neuropathy. 23622398 2013
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 GeneticVariation disease UNIPROT Defective copper-induced trafficking and localization of the Menkes protein in patients with mild and copper-treated classical Menkes disease. 10401004 1999
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 GeneticVariation disease UNIPROT ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome. 11241493 2001
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 GeneticVariation disease UNIPROT Fibroblast cultures from 12 unrelated patients with classical Menkes disease were analyzed for mutations in the MNK gene, by reverse transcription-PCR (RT-PCR) and chemical cleavage mismatch detection. 7977350 1994
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 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