|
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 |
|
Adult-onset citrullinemia type 2
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Screening for five prevalent mutations of SLC25A13 gene in Guangdong, China: a molecular epidemiologic survey of citrin deficiency.
|
25110155 |
2014 |
|
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 |
|
Adult-onset citrullinemia type 2
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Analysis of SLC25A13 mutations, identification of dysmorphic erythrocytes, hepatobiliary scintigraphic imaging and investigation of post-NICCD clinical presentations were performed in a citrin-deficient cohort comprised of 51 cases of children diagnosed with citrin deficiency in a Chinese pediatric center.
|
21424115 |
2011 |
|
Adult-onset citrullinemia type 2
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutation(s) of human SLC25A13 gene encoding a mitochondrial aspartate/glutamate carrier isoform 2 (AGC2), can lead to AGC2 deficiency, resulting in NICCD and an adult-onset fatal disease namely citrullinemia type II (CTLN2).
|
23067347 |
2012 |
|
Adult-onset citrullinemia type 2
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
SLC25A13 mutations cause two phenotypes, adult-onset type II citrullinemia and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD).
|
21134364 |
2011 |
|
Adult-onset citrullinemia type 2
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Two of them have NICCD (neonatal intrahepatic cholestasis caused by citrin deficiency); three of them have CTLN2 (adult-onset type II citrullinemia).
|
31809266 |
2020 |
|
Adult-onset citrullinemia type 2
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Citrin deficiency was suspected, and genomic DNA analysis revealed a mutation (IVS16ins3kb) in SLC25A13, which encodes a mitochondrial aspartate-glutamate carrier protein.
|
26109823 |
2015 |
|
Adult-onset citrullinemia type 2
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Adult-onset type II citrullinemia (CTLN2), characterized by a liver-specific deficiency of urea cycle enzyme, argininosuccinate synthetase, is caused by mutations in SLC25A13 that encodes a calcium binding mitochondrial solute carrier protein, citrin.
|
12602510 |
2002 |
|
Adult-onset citrullinemia type 2
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Inspissated bile syndrome in an infant with citrin deficiency and congenital anomalies of the biliary tract and esophagus: identification and pathogenicity analysis of a novel SLC25A13 mutation with incomplete penetrance.
|
25216257 |
2014 |
|
Adult-onset citrullinemia type 2
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A genetic analysis of solute carrier family 25, member 13 revealed the presence of a homozygous 851del4 mutation, and a diagnosis of citrin deficiency was made.
|
30591617 |
2019 |
|
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 |
|
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 |
|
Adult-onset citrullinemia type 2
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
These methods have shown that more than 90% of the patients diagnosed as suffering from CTLN2 by enzymatic analysis carry SLC25A13 mutations in both alleles, indicating that CTLN2 is caused by citrin deficiency.
|
12111366 |
2002 |
|
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 |
|
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 |
|
Adult-onset citrullinemia type 2
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This study aims to investigate the effect of a novel missense mutation on the aspartate/glutamate carrier (AGC) function of citrin protein, and to explore the aberrant transcript from c.615+5G>A in the same CD infant.
|
24586645 |
2014 |
|
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 |
|
Adult-onset citrullinemia type 2
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
DNA analysis for citrin deficiency revealed that SLC25A13 mutations are the cause of a particular type of neonatal intrahepatic cholestasis.
|
12692712 |
2003 |
|
Adult-onset citrullinemia type 2
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Eleven SLC25A13 mutations account for 95% of the mutant alleles in Japanese patients with citrin deficiency.
|
22277121 |
2012 |
|
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 |
|
Adult-onset citrullinemia type 2
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Citrullinemia is caused by either deficiency of argininosuccinate synthetase (ASS, citrullinemia type 1) or a defect of the SLC25A13 gene encoding a mitochondrial aspartate-glutamate transporter (citrullinemia type II).
|
14680976 |
2003 |
|
Adult-onset citrullinemia type 2
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutation analysis of the SLC25A13 gene, which is responsible for CTLN2, provides a rapid and accurate diagnosis.
|
12512993 |
2002 |
|
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 |
|
Adult-onset citrullinemia type 2
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A deficiency of citrin, which is encoded by the SLC25A13 gene, causes both adult-onset type II citrullinemia (CTLN2) and neonatal intrahepatic cholestasis (NICCD).
|
15542392 |
2004 |