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 |
Citrullinemia type II (CTLN-II) is an inherited disorder caused by germline mutations in SLC25A13, manifesting clinically in growth failure that can be alleviated by dietary restriction of carbohydrates.
|
31462712 |
2020 |
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 |
Biomarker
|
disease |
BEFREE |
In contrast, the estimated carrier frequencies for SLC25A13, which causes citrin deficiency, were much higher compared with the incidence rate.
|
30887117 |
2019 |
Adult-onset citrullinemia type 2
|
0.700 |
Biomarker
|
disease |
BEFREE |
Identification of the genes responsible for adult-onset type II citrullinemia (CTLN2) and citrin protein function have enhanced our understanding of citrin deficiency.
|
31255436 |
2019 |
Adult-onset citrullinemia type 2
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Biallelic SLC25A13 mutations result in Citrin deficiency (CD).
|
30708027 |
2019 |
Adult-onset citrullinemia type 2
|
0.700 |
Biomarker
|
disease |
BEFREE |
Pivotal role of inter-organ aspartate metabolism for treatment of mitochondrial aspartate-glutamate carrier 2 (citrin) deficiency, based on the mouse model.
|
30862943 |
2019 |
Adult-onset citrullinemia type 2
|
0.700 |
Biomarker
|
disease |
BEFREE |
Two subjects did not present with NICCD, and were subsequently diagnosed later in life after their siblings presented with symptoms of citrin deficiency at one month of age and subsequently received a molecular diagnosis.
|
30181955 |
2018 |
Adult-onset citrullinemia type 2
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
SLC25A13 c.1610_1612delinsAT mutation in an Indian patient and literature review of 79 cases of citrin deficiency for genotype-phenotype associations.
|
29787821 |
2018 |
Adult-onset citrullinemia type 2
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in SLC25A13 cause citrin deficiency, which has three phenotypes: neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD), failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD) and adult-onset type 2 citrullinemia (CTLN2).
|
27829683 |
2017 |
Adult-onset citrullinemia type 2
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Molecular diagnosis of pediatric patients with citrin deficiency in China: SLC25A13 mutation spectrum and the geographic distribution.
|
27405544 |
2016 |
Adult-onset citrullinemia type 2
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
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 |
Biomarker
|
disease |
BEFREE |
SLC25A13 (citrin or aspartate-glutamate carrier 2) is located in the mitochondrial membrane in the liver and its genetic deficiency causes adult-onset type II citrullinemia (CTLN2).
|
25533124 |
2015 |
Adult-onset citrullinemia type 2
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
A novel mutation of the SLC25A13 gene in a Chinese patient with citrin deficiency detected by target next-generation sequencing.
|
24161253 |
2014 |
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 |
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
Clinical, molecular and functional investigation on an infant with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD).
|
24586645 |
2014 |
Adult-onset citrullinemia type 2
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation of the SLC25A13 gene in a Chinese patient with citrin deficiency detected by target next-generation sequencing.
|
24161253 |
2014 |
Adult-onset citrullinemia type 2
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in SLC25A13, the gene encoding AGC2, result in two age dependent disorders: neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) and type II citrullinemia (CTLN2).
|
23053473 |
2013 |
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 |
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 |
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 |
SLC25A13 mutations cause two phenotypes, adult-onset type II citrullinemia and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD).
|
21134364 |
2011 |