|
Adult-onset citrullinemia type 2
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Adult-onset citrullinemia type 2
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Adult-onset citrullinemia type 2
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Adult-onset citrullinemia type 2
|
0.700 |
Biomarker
|
disease |
BEFREE |
Adult-onset type 2 citrullinaemia (CTLN2) is caused by a deficiency of the citrin protein encoded by the SLC25A13 gene.
|
12424587 |
2002 |
|
Adult-onset citrullinemia type 2
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Adult-onset type 2 citrullinaemia (CTLN2) is caused by a deficiency of the citrin protein encoded by the SLC25A13 gene.
|
12424587 |
2002 |
|
Adult-onset citrullinemia type 2
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Adult-onset type 2 citrullinaemia (CTLN2) is caused by a deficiency of the citrin protein encoded by the SLC25A13 gene.
|
12424587 |
2002 |
|
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 |
|
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 |
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 |
Biomarker
|
disease |
BEFREE |
Slc25a13-knockout mice harbor metabolic deficits but fail to display hallmarks of adult-onset type II citrullinemia.
|
14701727 |
2004 |
|
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 |
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 |
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 |
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 |
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 |
|
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 |
|
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 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
Adult-onset type II citrullinemia (CTLN2) is characterized by a liver-specific argininosuccinate synthetase deficiency caused by a deficiency of the citrin protein encoded by the SLC25A13 gene.
|
11281457 |
2001 |
|
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 |
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 |
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 |
|
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 |
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 |