ATP7A, ATPase copper transporting alpha, 538

N. diseases: 348; N. variants: 107
Disease: Menkes Kinky Hair Syndrome ×
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 CLINVAR
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 Biomarker disease MGD Urate oxidase activity and copper content in the liver of macular mutant mouse, a model animal for human congenital copper deficiency, Menkes' kinky hair disease. 1819648 1991
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 Biomarker disease MGD A sex-linked defect in the cross-linking of collagen and elastin associated with the mottled locus in mice. 4808708 1974
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 Biomarker disease MGD Primary defect in copper transport underlies mottled mutants in the mouse. 4858102 1974
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 Biomarker disease MGD Cadmium, zinc, and copper metabolism in the mottled mouse, an animal model for Menkes' kinky hair syndrome. 6685755 1983
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 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 Biomarker disease CLINGEN 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 On yeast artificial chromosomes from this region we have identified a sequence, similar to that coding for the proposed copper binding regions of the putative ATPase gene (MNK) defective in Menkes disease. 8298639 1993
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 Biomarker disease CLINGEN Genomic DNA of 41 unrelated patients affected with the classical severe form of Menkes disease was investigated for point mutations in the ATP7A gene (previously designated as the "MNK" gene). 8981948 1997
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 GeneticVariation disease UNIPROT Genomic DNA of 41 unrelated patients affected with the classical severe form of Menkes disease was investigated for point mutations in the ATP7A gene (previously designated as the "MNK" gene). 8981948 1997
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 GeneticVariation disease BEFREE Genomic DNA of 41 unrelated patients affected with the classical severe form of Menkes disease was investigated for point mutations in the ATP7A gene (previously designated as the "MNK" gene). 8981948 1997
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 GeneticVariation disease BEFREE As the only causal mutation in Atp7a has been reported in one very mild allele thought to be a model for OHS, Atp7aMo-blo (mottled blotchy), we sequenced the entire 4.5 kb coding region of three other mottled mutants, two of which are thought to be models for classical MD (AtpaMo-br, AtpaMo-13H) and one with a slightly milder phenotype (Atp7aMo-vbr). 9147645 1997
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 Biomarker disease MGD 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 We have investigated the cDNA sequence of the copper-transporting P-type ATPase (Atp7a) gene of the macular mouse, a model for human Menkes disease. 9166584 1997
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 Biomarker disease BEFREE The nature of the mutation in the brindled mouse is of importance in our understanding of the role of MNK and for devising treatment strategies for Menkes disease. 9215672 1997
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 Biomarker disease MGD A 31P-magnetic resonance spectroscopy and biochemical study of the mo(vbr) mouse: potential model for the mitochondrial encephalomyopathies. 9342151 1997
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 GeneticVariation disease BEFREE Patients with Menkes syndrome are predicted to have little or no MNK activity, whereas patients with occipital horn syndrome have less severe mutations and some residual MNK activity is predicted. 9587146 1998
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 Biomarker disease BEFREE The Menkes protein (MNK or ATP7A) is an important component of the mammalian copper transport pathway and is defective in Menkes disease, a fatal X-linked disorder of copper transport. 9668172 1998
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 GeneticVariation disease UNIPROT Mutation spectrum of ATP7A, the gene defective in Menkes disease. 10079817 1999
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 GeneticVariation disease BEFREE Mutation spectrum of ATP7A, the gene defective in Menkes disease. 10079817 1999
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 Biomarker disease MGD Metabolic consequences of the cytochrome c oxidase deficiency in brain of copper-deficient Mo(vbr) mice. 10098864 1999
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 GeneticVariation disease UNIPROT We identified three novel mutations of the MNK gene in three unrelated Japanese patients with classical Menkes disease by analyzing reverse-transcriptase polymerase chain reaction products and genomic DNA of the MNK gene. 10319589 1999
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		1.000 GeneticVariation disease BEFREE We identified three novel mutations of the MNK gene in three unrelated Japanese patients with classical Menkes disease by analyzing reverse-transcriptase polymerase chain reaction products and genomic DNA of the MNK gene. 10319589 1999