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 Biomarker disease BEFREE ATPase copper transporting α (ATP7A), also known as Menkes disease protein, is a P-type ATPase that transports copper across cell membranes. 31396659 2019
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 Biomarker disease BEFREE The phenotype we report represents a further example of this rare genotype-phenotype correlation and highlights the possible occurrence in SMAX3 of autonomic disturbances, as described for Menkes disease and Occipital Horn Syndrome. 31558336 2019
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome
1.000 GeneticVariation disease BEFREE Menkes disease (MD) is a lethal infantile neurodegenerative disorder with X-linked inheritance, characterized by progressive neurodegenerative symptoms caused by pathogenic variants in the ATP7A. 31279518 2019
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome
1.000 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: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome
1.000 GeneticVariation disease BEFREE Mutations in the ATP7A gene may lead to infantile-onset cerebral degeneration (Menkes disease); occipital horn syndrome (OHS), a related but much milder illness; or an adult-onset isolated distal motor neuropathy. 29599289 2018
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome
1.000 Biomarker disease BEFREE Indeed, mutations in the central copper exporter ATP7A contribute to a spectrum of diseases, including Menkes disease, with symptoms ranging from neurodegeneration to lax connective tissue. 29507920 2018
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome
1.000 GeneticVariation disease BEFREE Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease. 28389643 2017
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome
1.000 GeneticVariation disease BEFREE Identification of novel ATP7A mutations and prenatal diagnosis in Chinese patients with Menkes disease. 28397151 2017
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome
1.000 AlteredExpression disease BEFREE We determined in silico that all the mutations leading to the classical Menkes disease leave no residual activity of ATP7A including the apparently less severe in-frame deletions. 28451781 2017
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome
1.000 Biomarker disease CLINGEN Menkes disease is a rare neurodegenerative disorder caused by mutations in ATP7A gene. 25771438 2017
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome
1.000 GeneticVariation disease BEFREE A 37-year-old Menkes disease patient-Residual ATP7A activity and early copper administration as key factors in beneficial treatment. 28657131 2017
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome
1.000 Biomarker disease BEFREE Mosaic mutant mice displaying functional dysfunction of Atp7a copper transporter (the Menkes ATPase) are an established animal model of Menkes disease and constitute a convenient tool for investigating connections between copper and iron metabolisms. 28219768 2017
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome
1.000 Biomarker disease GENOMICS_ENGLAND Neuroimaging Changes in Menkes Disease, Part 2. 28495940 2017
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 Menkes disease (MD) is caused by mutations in ATP7A gene. 27629586 2016
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome
1.000 AlteredExpression disease BEFREE Loss of ATP7A activity is associated with fatal Menkes disease and various other pathologies. 27226607 2016
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome
1.000 GeneticVariation disease BEFREE Loss-of-function ATP7A mutations causing systemic Cu deficiency are associated with severe Menkes disease or its milder allelic variant, occipital horn syndrome. 27293072 2016
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 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 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 Biomarker disease CTD_human Mutations in ATP7A result in Menkes disease, a disorder of copper metabolism. 26199316 2015
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome
1.000 GeneticVariation disease BEFREE Menkes disease in Korea: ATP7A mutation and epilepsy phenotype. 24882692 2015
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome
1.000 Biomarker disease BEFREE Our findings indicate that ATP7A dysfunction contributes to retardation in MSC development and impairs osteogenesis in MD. 26347346 2015
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