Gene: ATP6V0A2 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23545
Gene Symbol: ATP6V0A2
ATP6V0A2 		0.200 Biomarker disease BEFREE Our data will affect clinical management of patients with ATP6V0A2-related cutis laxa. 29952037 2019
Entrez Id: 23545
Gene Symbol: ATP6V0A2
ATP6V0A2 		0.200 GeneticVariation disease BEFREE By studying molecular mechanisms of human disease-causing missense mutations within <i>a</i> subunit isoforms, we may identify domains critical for V-ATPase targeting, activity and/or regulation. cDNA-encoded FLAG-tagged human wildtype ATP6V0A2 (<i>a</i>2) and ATP6V0A4 (<i>a</i>4) subunits and their mutants, <i>a</i>2<sup>P405L</sup> (causing cutis laxa), and <i>a</i>4<sup>R449H</sup> and <i>a</i>4<sup>G820R</sup> (causing renal tubular acidosis, dRTA), were transiently expressed in HEK 293 cells. 29311258 2018
Entrez Id: 23545
Gene Symbol: ATP6V0A2
ATP6V0A2 		0.200 GeneticVariation disease BEFREE Three of the autosomal recessive cutis laxa syndromes, namely cutis laxa IIA (ARCL2A), cutis laxa IIB (ARCL2B), and geroderma osteodysplastica (GO), have very similar clinical features, complicating accurate diagnosis. 28294978 2017
Entrez Id: 23545
Gene Symbol: ATP6V0A2
ATP6V0A2 		0.200 GeneticVariation disease BEFREE Some of these conditions, including PMM2-CDG, frequently present with recognizable skin abnormalities such as abnormal fat distribution, skin wrinkling, or peau d'orange, whereas others, such as COG7-CDG and ATP6V0A2-CDG, have been described in association with cutis laxa: wrinkled, inelastic, and sagging skin. 24555185 2014
Entrez Id: 23545
Gene Symbol: ATP6V0A2
ATP6V0A2 		0.200 GeneticVariation disease BEFREE Through a survey of more than 20 patients with a specific subgroup of autosomal recessive congenital cutis laxa (ARCL), namely ATP6V0A2-related cutis laxa, we noted that the clinical findings on three patients included pretibial pseudo-ecchymotic skin lesions very similar to those found in classical Ehlers-Danlos syndrome. 24478233 2014
Entrez Id: 23545
Gene Symbol: ATP6V0A2
ATP6V0A2 		0.200 GeneticVariation disease BEFREE Autosomal recessive cutis laxa type I (ARCL type I) is characterized by generalized cutis laxa with pulmonary emphysema and/or vascular complications. 22829427 2013
Entrez Id: 23545
Gene Symbol: ATP6V0A2
ATP6V0A2 		0.200 GeneticVariation disease BEFREE The autosomal recessive form of type II cutis laxa (ARCL II) is characterized by the appearance of redundant, inelastic skin with wrinkling, an aged look and additional variable systemic involvement including intrauterine growth retardation, failure to thrive, developmental delay, dysmorphism, osseous abnormality, and CNS manifestations. 21567914 2011
Entrez Id: 23545
Gene Symbol: ATP6V0A2
ATP6V0A2 		0.200 Biomarker disease BEFREE A clinical overview of cutis laxa syndromes is presented with a focus on ARCL II. 19171192 2009
Entrez Id: 23545
Gene Symbol: ATP6V0A2
ATP6V0A2 		0.200 Biomarker disease BEFREE We present morphological and molecular genetic studies in a cutis laxa kindred with a previously undescribed highly variable phenotype caused by a novel ELN mutation c.1621 C > T. The proband presented with severe cutis laxa, severe congenital lung disease previously undescribed in ADCL and pulmonary artery disease, which is often seen in ARCL but rare in ADCL. 18348261 2008
Entrez Id: 23545
Gene Symbol: ATP6V0A2
ATP6V0A2 		0.200 GeneticVariation disease LHGDN Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. 18157129 2008
Entrez Id: 23545
Gene Symbol: ATP6V0A2
ATP6V0A2 		0.200 Biomarker disease HPO