SLC25A13, solute carrier family 25 member 13, 10165

N. diseases: 109; N. variants: 23
Disease: Adult-onset citrullinemia type 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1863844
Disease: Adult-onset citrullinemia type 2
Adult-onset citrullinemia type 2 		0.700 CausalMutation disease CLINVAR [SLC25A13 gene analysis in neonates with intrahepatic cholestasis caused by citrin deficiency]. 21507300 2011
CUI: C1863844
Disease: Adult-onset citrullinemia type 2
Adult-onset citrullinemia type 2 		0.700 Biomarker disease BEFREE Citrin deficiency (CD) is an autosomal recessive disorder with SLC25A13 as causative gene that encodes citrin, the liver-type aspartate/glutamate carrier isoform 2 (AGC2). 22095253 2011
CUI: C1863844
Disease: Adult-onset citrullinemia type 2
Adult-onset citrullinemia type 2 		0.700 GeneticVariation disease BEFREE Because CTLN2 has been associated with hepatocellular carcinoma (HCC) and may be involved in hepatocarcinogenesis, the objective of this study was to assess the frequency of SLC25A13 mutations in patients with non-viral HCC. 21470889 2011
CUI: C1863844
Disease: Adult-onset citrullinemia type 2
Adult-onset citrullinemia type 2 		0.700 CausalMutation disease CLINVAR High resolution melting analysis for the detection of SLC25A13 gene mutations in Taiwan. 21134364 2011
CUI: C1863844
Disease: Adult-onset citrullinemia type 2
Adult-onset citrullinemia type 2 		0.700 CausalMutation disease CLINVAR Genotypic and phenotypic features of citrin deficiency: five-year experience in a Chinese pediatric center. 21424115 2011
CUI: C1863844
Disease: Adult-onset citrullinemia type 2
Adult-onset citrullinemia type 2 		0.700 GeneticVariation disease BEFREE SLC25A13 gene mutations cause citrin deficiency, which leads to neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). 20927635 2011
CUI: C1863844
Disease: Adult-onset citrullinemia type 2
Adult-onset citrullinemia type 2 		0.700 GeneticVariation disease BEFREE AGC2 deficiency is an autosomal recessive disorder with two age related phenotypes: neonatal intrahepatic cholestasis (NICCD, OMIM#605814) and adult-onset type II citrullinemia (CTLN2, OMIM#603471). 21914561 2011
CUI: C1863844
Disease: Adult-onset citrullinemia type 2
Adult-onset citrullinemia type 2 		0.700 GeneticVariation disease BEFREE Diagnosis of NICCD was established before transplantation, and donor evaluation included mutation in the SLC25A13 gene for exclusion of individuals with citrin deficiency citrullinemia. 19413723 2010
CUI: C1863844
Disease: Adult-onset citrullinemia type 2
Adult-onset citrullinemia type 2 		0.700 GeneticVariation disease BEFREE Citrin deficiency, aetiologically linked to mutations of SLC25A13 gene, has two clinical phenotypes, namely adult-onset type II citrullinaemia (CTLN2) and neonatal/infantile intrahepatic cholestasis, caused by citrin deficiency (NICCD). 21161389 2010
CUI: C1863844
Disease: Adult-onset citrullinemia type 2
Adult-onset citrullinemia type 2 		0.700 CausalMutation disease CLINVAR [Failure to thrive and dyslipidemia caused by citrin deficiency: a novel clinical phenotype]. 19470249 2009
CUI: C1863844
Disease: Adult-onset citrullinemia type 2
Adult-onset citrullinemia type 2 		0.700 CausalMutation disease CLINVAR Citrin deficiency, a perplexing global disorder. 19036621 2009
CUI: C1863844
Disease: Adult-onset citrullinemia type 2
Adult-onset citrullinemia type 2 		0.700 GeneticVariation disease BEFREE oligonucleotide array CGH identified intragenic exonic deletions in 2 cases: a heterozygous single-exon deletion of 4.5 kb in the SLC25A13 gene [solute carrier family 25, member 13 (citrin)] in an individual with citrin deficiency and a homozygous 10.5-kb deletion of exons 13-17 in the ABCB11 gene [PFIC2, ATP-binding cassette, sub-family B (MDR/TAP), member 11] in a patient with progressive familial intrahepatic cholestasis. 18487280 2008
CUI: C1863844
Disease: Adult-onset citrullinemia type 2
Adult-onset citrullinemia type 2 		0.700 GeneticVariation disease BEFREE Citrin deficiency caused by SLC25A13 gene mutations develops into adult-onset type II citrullinemia (CTLN2) and may be accompanied with hepatic steatosis and steatohepatitis. 18620775 2008
CUI: C1863844
Disease: Adult-onset citrullinemia type 2
Adult-onset citrullinemia type 2 		0.700 CausalMutation disease CLINVAR Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency. 18392553 2008
CUI: C1863844
Disease: Adult-onset citrullinemia type 2
Adult-onset citrullinemia type 2 		0.700 GeneticVariation disease BEFREE Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency. 18392553 2008
CUI: C1863844
Disease: Adult-onset citrullinemia type 2
Adult-onset citrullinemia type 2 		0.700 GeneticVariation disease BEFREE Citrin is a liver-type mitochondrial aspartate-glutamate carrier encoded by the SLC25A13 gene, and its deficiency causes adult-onset type II citrullinemia and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). 18162705 2007
CUI: C1863844
Disease: Adult-onset citrullinemia type 2
Adult-onset citrullinemia type 2 		0.700 CausalMutation disease CLINVAR [SLC25A13 gene mutation analysis in a pedigree of neonatal intrahepatic cholestasis caused by citrin deficiency]. 17880783 2007
CUI: C1863844
Disease: Adult-onset citrullinemia type 2
Adult-onset citrullinemia type 2 		0.700 Biomarker disease BEFREE Novel diagnostic approach to citrin deficiency: analysis of citrin protein in lymphocytes. 17092749 2007
CUI: C1863844
Disease: Adult-onset citrullinemia type 2
Adult-onset citrullinemia type 2 		0.700 GeneticVariation disease BEFREE This report describes the clinical characteristics, biochemical findings and molecular analysis of the SLC25A13 gene of patients with citrin deficiency in Korea. 17982687 2007
CUI: C1863844
Disease: Adult-onset citrullinemia type 2
Adult-onset citrullinemia type 2 		0.700 GeneticVariation disease BEFREE Adult-onset citrullinemia (type II, CTLN2) has been attributed to citrin deficiency caused by mutations in the SLC25A13 gene. 17000460 2006
CUI: C1863844
Disease: Adult-onset citrullinemia type 2
Adult-onset citrullinemia type 2 		0.700 Biomarker disease CTD_human A case of adult-onset type II citrullinemia--deterioration of clinical course after infusion of hyperosmotic and high sugar solutions. 16449956 2006
CUI: C1863844
Disease: Adult-onset citrullinemia type 2
Adult-onset citrullinemia type 2 		0.700 GeneticVariation disease BEFREE The diagnosis of CTLN2 was confirmed by elevations of plasma citrulline level (384.3 nmol/mL; normal 17-43 nmol/mL) and serum pancreatic secretory trypsin inhibitor (PSTI) (110 ng/mL; normal 4.6-12.2 ng/mL), decrease in hepatic argininosuccinate synthetase activity (5.5% of control), lack of hepatic citrin protein expression and mutations in SLC25A13 gene (compound heterozygote with S225X and Ex1-1G>A). 16449956 2006
CUI: C1863844
Disease: Adult-onset citrullinemia type 2
Adult-onset citrullinemia type 2 		0.700 GeneticVariation disease BEFREE Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency. 16059747 2005
CUI: C1863844
Disease: Adult-onset citrullinemia type 2
Adult-onset citrullinemia type 2 		0.700 GeneticVariation disease BEFREE Deficiency of citrin due to mutations of the SLC25A13 gene causes not only adult-onset type II citrullinemia, but also neonatal intrahepatic cholestasis. 16311094 2005
CUI: C1863844
Disease: Adult-onset citrullinemia type 2
Adult-onset citrullinemia type 2 		0.700 CausalMutation disease CLINVAR Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle. 15050970 2004