ATP7B, ATPase copper transporting beta, 540

N. diseases: 182; N. variants: 333
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
1.000 GeneticVariation disease BEFREE The present study provided additional information on the genotypic spectrum of the ATP7B gene, particularly with regard to early onset hepatic disease, as observed in the present patient with WD. 31746411 2020
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
1.000 Biomarker disease BEFREE Plasma ceruloplasmin was investigated in both the Atp7b-/- mouse model and human patients; it was significantly decreased in the human form of WD only. 31815268 2020
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
1.000 GeneticVariation disease BEFREE The objective of the present study was estimation of the frequency of ATP7B gene mutations in the Russian population of WD patients. 31708252 2020
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
1.000 GeneticVariation disease BEFREE Some patients with clinical Wilson's disease symptoms exhibit no or only heterozygous pathogenic variants in the coding region of the disease-causing ATP7B gene. 31596515 2020
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
1.000 GeneticVariation disease BEFREE These results will be helpful in establishing early diagnosis of WD at the gene level, offering beneficial information for genetic counseling and providing clues to genotype/phenotype correlation of ATP7B mutations. 31172689 2019
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
1.000 GeneticVariation disease BEFREE In particular, non-random occurrence was revealed for SERPINA1 c.1096G > A (alpha-1 antitrypsin deficiency), C8B c.1282C > T and c.1653G > A (complement component 8B deficiency), ATP7B c.3207C > A (Wilson disease), PROP1 c.301_302delAG (combined pituitary hormone deficiency), CYP21A2 c.844G > T (non-classical form of adrenogenital syndrome), EYS c.1155T > A (retinitis pigmentosa), HADHA c.1528G > C (LCHAD deficiency), SCO2 c.418G > A (cytochrome c oxidase deficiency), OTOA c.2359G > T (sensorineural deafness), C2 c.839_866del (complement component 2 deficiency), ACADVL c.848T > C (VLCAD deficiency), TGM5 c.337G > T (acral peeling skin syndrome) and VWF c.2561 G > A (von Willebrand disease, type 2N). 31028847 2019
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
1.000 GeneticVariation disease BEFREE Interestingly, p.(Gly14Ser) was seen with an early onset age, reduced serum ceruloplasmin level and manifestations of liver and brain in a WD patient unlike the other having identical ATP7B mutation but normal ATOX1 alleles. 30980273 2019
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
1.000 GeneticVariation disease BEFREE Our study revealed the complex ATP7B mutation patterns in WD patients and the applicability of a yeast model system to the evaluation of the functional consequences of ATP7B variants, which is essential for WD cases that are difficult to interpret. 30702195 2019
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
1.000 Biomarker disease BEFREE Tetrathiomolybdate (TM) is used in the clinic for the treatment of Wilson's disease by targeting the cellular copper efflux protein ATP7B (WLN). 30643139 2019
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
1.000 Biomarker disease BEFREE Wilson's disease (WD) is an autosomal recessive disorder of copper metabolism caused by defects in the ATPase gene (ATP7B). 31547461 2019
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
1.000 GeneticVariation disease BEFREE Novel mutations found in the ATP7B gene in Chinese patients with Wilson's disease. 30884209 2019
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
1.000 GeneticVariation disease CLINVAR Age and Sex but Not ATP7B Genotype Effectively Influence the Clinical Phenotype of Wilson Disease. 30232804 2019
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
1.000 GeneticVariation disease BEFREE To begin to assess mechanisms of dysfunction, we investigated four proposed WD-causing missense mutations in metal-binding domains 5 and 6 of ATP7B. 31598802 2019
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
1.000 GeneticVariation disease BEFREE Wilson's disease (WD) is a rare autosomal recessive disorder of copper metabolism caused by an ATP7B gene mutation. 30967268 2019
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
1.000 Biomarker disease BEFREE Of these, the Cu-transporting ATPase ATP7B (known as Wilson disease protein) plays a key role in the maintenance of the Cu balance in the body via the supply of essential Cu to the systemic circulation and via elimination of excess Cu into the bile. 31408533 2019
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
1.000 GeneticVariation disease BEFREE SHED and SHED-Heps were transplanted into WD model Atp7b-mutated Long-Evans Cinnamon (LEC) rats received copper overloading to induce a lethal fulminant liver failure. 30733544 2019
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
1.000 Biomarker disease BEFREE In contrast to AAV8-ATP7B, AAV8-miniATP7B could be produced at high titers and was able to restore copper homeostasis in 6- and 12-week-old male and female WD mice. 30706949 2019
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
1.000 Biomarker disease BEFREE Mutation in ATP7B gene might disturb the structural conformation and catalytic function of the ATP7B protein may be inducing WD. 31286540 2019
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
1.000 GeneticVariation disease BEFREE We demonstrated that, in contrast to the current dogma, the most frequent yet enigmatic Wilson disease-causing ATP7B-H1069Q mutation per se did not preclude trafficking of ATP7B to the trans-Golgi Network. 30965071 2019
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
1.000 GeneticVariation disease BEFREE In a Polish population, genetic screening for WD may help genotype for four variants (p.His1069Gln, p.Gln1351Ter, p.Trp779Ter and c.3402delC), with direct sequencing of all ATP7B amplicons as a second diagnostic step. 30230192 2019
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
1.000 GeneticVariation disease BEFREE Wilson disease (WD) is an autosomal recessive disease of copper excess due to pathogenic variants in the ATP7B gene coding for a copper-transporting ATPase. 30723317 2019
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
1.000 GeneticVariation disease BEFREE Genetic analysis of ATP7B in 102 south Indian families with Wilson disease. 31059521 2019
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
1.000 Biomarker disease BEFREE We studied ATP7B-deficient cells and animals to identify strategies to decrease copper toxicity in patients with WD. 30452922 2019
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
1.000 CausalMutation disease CLINVAR The global prevalence of Wilson disease from next-generation sequencing data. 30254379 2019
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
1.000 GeneticVariation disease BEFREE 1.WTX101 (bis-choline tetrathiomolybdate) is an investigational copper (Cu)-protein-binding agent developed for the treatment of Wilson disease (WD), a rare genetic disorder caused by mutations in the ATP7B Cu-transporter and resulting in toxic Cu accumulation.2. 29460662 2019