ATP7A, ATPase copper transporting alpha, 538

N. diseases: 348; N. variants: 107
Disease: Cutis laxa, x-linked ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268353
Disease: Cutis laxa, x-linked
Cutis laxa, x-linked 		0.800 GeneticVariation disease BEFREE ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome. 11241493 2001
CUI: C0268353
Disease: Cutis laxa, x-linked
Cutis laxa, x-linked 		0.800 AlteredExpression disease BEFREE Small amounts of correctly spliced ATP7A transcript were sufficient to develop the milder OHS phenotype in this patient (OMIM 30001.0006). 11936860 2001
CUI: C0268353
Disease: Cutis laxa, x-linked
Cutis laxa, x-linked 		0.800 GeneticVariation disease UNIPROT The data from the present report support the concepts that (1) OHS results from lower levels of functional ATP7A and (2) ATP7A does not require the dileucine motif to function in copper efflux. 11431706 2001
CUI: C0268353
Disease: Cutis laxa, x-linked
Cutis laxa, x-linked 		0.800 GeneticVariation disease BEFREE Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome. 10739752 2000
CUI: C0268353
Disease: Cutis laxa, x-linked
Cutis laxa, x-linked 		0.800 GeneticVariation disease BEFREE We identified a single exon skipping in the ATP7A transcript in cells from the affected proband, affected cousins and obligate carriers in a family with OHS. 9467005 1998
CUI: C0268353
Disease: Cutis laxa, x-linked
Cutis laxa, x-linked 		0.800 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: C0268353
Disease: Cutis laxa, x-linked
Cutis laxa, x-linked 		0.800 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: C0268353
Disease: Cutis laxa, x-linked
Cutis laxa, x-linked 		0.800 GeneticVariation disease UNIPROT A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family. 9246006 1997
CUI: C0268353
Disease: Cutis laxa, x-linked
Cutis laxa, x-linked 		0.800 GeneticVariation disease BEFREE By Southern analysis we detected a small deletion in a region 5' to the MNK gene in one patient with OHS. 8923001 1996
CUI: C0268353
Disease: Cutis laxa, x-linked
Cutis laxa, x-linked 		0.800 CausalMutation disease CLINVAR
CUI: C0268353
Disease: Cutis laxa, x-linked
Cutis laxa, x-linked 		0.800 Biomarker disease CTD_human
CUI: C0268353
Disease: Cutis laxa, x-linked
Cutis laxa, x-linked 		0.800 GeneticVariation disease CLINVAR