MCID: CTR003
MIFTS: 35

Citrin Deficiency malady

Summaries for Citrin Deficiency

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63Wikipedia, 19GeneReviews, 32MalaCards
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Wikipedia:63 Citrin also known as solute carrier family 25, member 13 (citrin) or SLC25A13 is a protein which in... more...

MalaCards: Citrin Deficiency is related to cholestasis and intrahepatic cholestasis. An important gene associated with Citrin Deficiency is SLC25A13 (solute carrier family 25 (aspartate/glutamate carrier), member 13), and among its related pathways are Alanine and aspartate metabolism and Alanine, aspartate and glutamate metabolism. The compounds 5-hydroxytryptophol and alpha-hydroxybutyrate have been mentioned in the context of this disorder. Affiliated tissues include liver and testes, and related mouse phenotype homeostasis/metabolism.

GeneReviews summary for citrin

Aliases & Classifications for Citrin Deficiency

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19GeneReviews, 20GeneTests, 22GTR, 60UMLS
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Aliases & Descriptions:

citrin deficiency 19 20 22 60


Related Diseases for Citrin Deficiency

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17GeneCards, 18GeneDecks
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Diseases related to Citrin Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 66)
idRelated DiseaseScoreTop Affiliating Genes
1cholestasis31.2GPT, F2, SLC25A13, SLC17A5
2intrahepatic cholestasis31.2SLC17A5, SLC25A13
3hepatitis30.7SLC17A5, GPT
4citrullinemia30.4SLC25A13, ASS1
5adult-onset citrullinemia type ii30.4ASS1, SLC25A13
6hepatitis a30.1F2
7galactosemia30.1GALK1, SLC25A13
8fatty liver disease30.1GPT, SLC25A13, SLC17A5, ASS1
9hepatic encephalopathy30.1ASS1, SLC17A5, SLC25A13, F2, GPT
10hepatocellular carcinoma30.1AFP, GPT, F2, SLC25A13, SLC17A5, ASS1
11neonatal intrahepatic cholestasis caused by citrin deficiency10.7
12liver disease10.3
13failure to thrive and dyslipidemia caused by citrin deficiency10.2
14cryoglobulinemia10.0SLC17A5
15hepatitis e10.0GPT
16cholelithiasis10.0GPT
17hyperthyroidism10.0SLC17A5
18esophageal varix10.0F2
19hypertension10.0F2
20pancreatitis10.0SLC17A5
21neural tube defects10.0AFP
22peritonitis10.0F2
23tyrosinemia10.0AFP
24thromboembolism10.0F2
25gastroschisis10.0AFP
26cholangiocarcinoma10.0AFP
27neonatal hemochromatosis10.0SLC25A13, SLC17A5
28biliary atresia10.0GPT, SLC25A13
29acute pancreatitis10.0GPT, SLC17A5
30hypercholesterolemia10.0SLC17A5, GPT
31pyridoxine deficiency10.0GPT, SLC17A5
32hepatoblastoma10.0AFP
33hellp syndrome10.0GPT, SLC17A5
34wilson disease10.0GPT, SLC17A5
35obstructive jaundice10.0SLC17A5, GPT
36ovarian cancer10.0AFP
37cholangitis10.0SLC17A5, GPT
38choledocholithiasis10.0SLC17A5, GPT
39urea cycle disorder10.0ASS1
40scrub typhus10.0SLC17A5, GPT
41alcoholic liver cirrhosis10.0AFP, GPT
42cholecystitis10.0GPT
43vitamin k deficiency hemorrhagic disease10.0F2, AFP
44diabetes mellitus10.0GPT
45familial hyperlipidemia10.0GPT, SLC25A13, SLC17A5
46acute liver failure10.0GPT, F2, SLC17A5
47alcoholic hepatitis10.0GPT, F2, SLC17A5
48portal vein thrombosis10.0F2, AFP
49portal hypertension10.0GPT, F2, SLC17A5
50splenomegaly10.0GPT, SLC17A5

Graphical network of the top 20 diseases related to Citrin Deficiency:



Diseases related to citrin deficiency

Clinical Features for Citrin Deficiency

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Drugs & Therapeutics for Citrin Deficiency

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Citrin Deficiency

Search NIH Clinical Center for Citrin Deficiency

Search CenterWatch for Citrin Deficiency

Genetic Tests for Citrin Deficiency

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20GeneTests, 22GTR
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Genetic tests related to Citrin Deficiency:

id Genetic test Affiliating Genes
1 Citrin Deficiency20 22 SLC25A13

Anatomical Context for Citrin Deficiency

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32MalaCards
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MalaCards organs/tissues related to Citrin Deficiency:

32
Liver, Testes

Animal Models for Citrin Deficiency or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Citrin Deficiency:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.3ASS1, SLC17A5, SLC25A13, F2, AFP, GALK1

Publications for Citrin Deficiency

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50PubMed
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Articles related to Citrin Deficiency:

(show top 50)    (show all 76)
idTitleAuthorsYear
1
A novel mutation of the SLC25A13 gene in a Chinese patient with citrin deficiency detected by target next-generation sequencing. (24161253)
2014
2
SLC25A13 gene analysis in citrin deficiency: sixteen novel mutations in East Asian patients, and the mutation distribution in a large pediatric cohort in China. (24069319)
2013
3
Fatigue and quality of life in citrin deficiency during adaptation and compensation stage. (23453692)
2013
4
Molecular analysis of SLC25A13 gene in human peripheral blood lymphocytes: Marked transcript diversity, and the feasibility of cDNA cloning as a diagnostic tool for citrin deficiency. (23022256)
2012
5
Treatment with lactose (galactose)-restricted and medium-chain triglyceride-supplemented formula for neonatal intrahepatic cholestasis caused by citrin deficiency. (23430852)
2012
6
Biochemical characteristics of neonatal cholestasis induced by citrin deficiency. (23112554)
2012
7
Neonatal intrahepatic cholestasis caused by citrin deficiency: prevalence and SLC25A13 mutations among Thai infants. (23067347)
2012
8
Simple and rapid genetic testing for citrin deficiency by screening 11 prevalent mutations in SLC25A13. (22277121)
2012
9
A tribute to Keiko Kobayashi and her work on citrin deficiency. (22284267)
2012
10
Multiple ovarian antral follicles in a preterm infant with neonatal intrahepatic cholestasis caused by citrin deficiency: a clinical, genetic and transcriptional analysis. (22710133)
2012
11
Genotypic and phenotypic features of citrin deficiency: five-year experience in a Chinese pediatric center. (21424115)
2011
12
Prenatal diagnosis of citrin deficiency in a Chinese family with a fatal proband. (22095253)
2011
13
SLC25A13 gene analysis in neonates with intrahepatic cholestasis caused by citrin deficiency]. (21507300)
2011
14
A new Caucasian case of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD): a clinical, molecular, and functional study. (21914561)
2011
15
A GC/MS-based metabolomic approach for diagnosing citrin deficiency. (21365350)
2011
16
Hyperammonaemic encephalopathy in an adult patient with citrin deficiency associated with a novel mutation. (21979481)
2011
17
Citrin deficiency: learn more, and don't forget to add it to the list of neonatal cholestasis and the NASH trash bin. (20479677)
2010
18
Citrin deficiency is an important etiology for cholestatic liver disease in children]. (19951499)
2009
19
Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) as a cause of liver disease in infants in the UK. (19517266)
2009
20
Neonatal intrahepatic cholestasis caused by citrin deficiency: clinical and laboratory investigation of 13 subjects in mainland of China. (19185551)
2009
21
Citrin deficiency, a perplexing global disorder. (19036621)
2009
22
Identification and diagnosis of three novel mutations in SLC25A13 gene of neonatal intrahepatic cholestasis caused by citrin deficiency]. (19099775)
2008
23
Neonatal classical galactosaemia presenting as citrin deficiency. (18640739)
2008
24
Treatment of a citrin-deficient patient at the early stage of adult-onset type II citrullinaemia with arginine and sodium pyruvate. (18958581)
2008
25
Primary liver carcinoma exhibiting dual hepatocellular-biliary epithelial differentiations associated with citrin deficiency: a case report. (18385606)
2008
26
Citrin deficiency as a cause of chronic liver disorder mimicking non-alcoholic fatty liver disease. (18620775)
2008
27
Evidence of cataplerosis in a patient with neonatal classical galactosemia presenting as citrin deficiency. (18207281)
2008
28
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
29
SLC25A13 gene mutation analysis in a pedigree of neonatal intrahepatic cholestasis caused by citrin deficiency]. (17880783)
2007
30
Novel diagnostic approach to citrin deficiency: analysis of citrin protein in lymphocytes. (17092749)
2007
31
Neonatal intrahepatic cholestasis caused by citrin deficiency in Korean infants. (18162705)
2007
32
Six cases of citrin deficiency in Korea. (17982687)
2007
33
Citrin deficiency: a novel cause of failure to thrive that responds to a high-protein, low-carbohydrate diet. (17332192)
2007
34
Clinical pictures of 75 patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). (17323144)
2007
35
Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiency. (16736097)
2006
36
Pyruvate ameliorates the defect in ureogenesis from ammonia in citrin-deficient mice. (16458993)
2006
37
Hepatic steatosis and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in Taiwanese infants. (16737877)
2006
38
Progresses and perspectives in the study on citrin deficiency]. (17160946)
2006
39
Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency. (16059747)
2005
40
Metabolic derangements in deficiency of citrin, a liver-type mitochondrial aspartate-glutamate carrier. (16199199)
2005
41
A possible mechanism of neonatal intrahepatic cholestasis caused by citrin deficiency. (15777702)
2005
42
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
43
Molecular basis of citrin deficiency]. (15675368)
2004
44
Clinical heterogeneity of neonatal intrahepatic cholestasis caused by citrin deficiency: case reports from 16 patients. (15542392)
2004
45
Effects of citrin deficiency in the perinatal period: feasibility of newborn mass screening for citrin deficiency. (15295082)
2004
46
Screening of nine SLC25A13 mutations: their frequency in patients with citrin deficiency and high carrier rates in Asian populations. (14680984)
2003
47
Infantile citrullinemia caused by citrin deficiency with increased dibasic amino acids. (12409267)
2002
48
Neonatal intrahepatic cholestasis caused by citrin deficiency: severe hepatic dysfunction in an infant requiring liver transplantation. (12424587)
2002
49
Pathogenesis of adult-onset type II citrullinemia caused by deficiency of citrin, a mitochondrial solute carrier protein: tissue and subcellular localization of citrin. (11384753)
2001
50
Citrin Deficiency (20301360)
1993

Genetic Variations for Citrin Deficiency

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Expression for genes affiliated with Citrin Deficiency

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Citrin Deficiency

Search GEO for disease gene expression data for Citrin Deficiency.

Pathways for genes affiliated with Citrin Deficiency

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37NCBI BioSystems Database, 29KEGG
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Pathways related to Citrin Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4ASS1, GPT
29.4ASS1, GPT
39.2F2, AFP

Compounds for genes affiliated with Citrin Deficiency

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Sources:
44Novoseek, 49PharmGKB, 11DrugBank, 28IUPHAR, 24HMDB, 59Tocris Bioscience, 2BitterDB
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Compounds related to Citrin Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 71)
idCompoundScoreTop Affiliating Genes
15-hydroxytryptophol4410.1GPT, SLC17A5
2alpha-hydroxybutyrate4410.1SLC17A5, GPT
3d-galactosamine4410.0GPT, SLC17A5
4lactulose4410.0SLC17A5, GPT
5adefovir4410.0GPT, SLC17A5
6monoethylglycinexylidide4410.0GPT, F2
7glycocholate4410.0GPT, SLC17A5
8tenofovir44 49 1112.0GPT, SLC17A5
9ximelagatran44 1111.0GPT, F2
10glycyrrhizin44 2810.9SLC17A5, GPT
11nash449.9GPT, SLC17A5
12nevirapine44 49 1111.9SLC17A5, GPT
13cefoperazone44 1110.9F2, SLC22A7
14sevoflurane44 1110.8SLC17A5, GPT
15antipyrine44 1110.8F2, SLC17A5
16isoniazid49 44 1111.7SLC17A5, GPT
17hepaplastin449.7F2, GPT, SLC17A5
18aminopyrine449.7F2, SLC17A5, GPT
19lamivudine44 1110.7SLC17A5, GPT, F2
20ursodeoxycholic acid44 11 2411.7GPT, SLC17A5, F2
21silymarin449.7SLC17A5, GPT, F2
22amiodarone44 49 28 1112.6SLC17A5, F2
23pge1449.6SLC17A5, F2, GPT
24L-Aspartic Acid11 2410.6ASS1, SLC25A13
25zidovudine44 1110.6GPT, SLC22A7, SLC17A5
26levonorgestrel44 59 28 1112.5SLC17A5, F2
27clarithromycin44 1110.5GPT, SLC22A7, F2
28valproic acid44 49 11 2412.5SLC17A5, GPT, SLC22A7
29hyaluronic acid44 2410.5F2, SLC17A5, GPT
30ribavirin44 49 1111.3SLC17A5, GPT, AFP
31ccl444 2810.3SLC17A5, GPT, AFP
32vitamin b12449.3SLC17A5, AFP, GPT
33uric acid44 2410.3AFP, GPT, SLC17A5
34pyruvate449.2ASS1, SLC17A5, GPT
35polyethylene glycol449.2AFP, SLC17A5, F2
36galactose449.2GALK1, SLC25A13, AFP
37thyroxine44 2410.1SLC17A5, GPT, AFP
38acetaminophen44 2 49 11 2412.9F2, GPT, AFP, SLC17A5
39simvastatin44 49 59 28 11 2413.8AFP, F2, SLC17A5, GPT
40fibrinogen448.8SLC17A5, F2, GPT, AFP
41lactate448.7GPT, AFP, F2, SLC17A5
42glutamine448.7GPT, SLC17A5, AFP, GALK1
43sodium44 249.7AFP, SLC22A7, SLC17A5, GPT
44epinephrine44 11 2410.5AFP, F2, SLC17A5
45urea44 11 2410.4ASS1, SLC25A13, AFP, GPT, SLC17A5
46methotrexate44 49 1110.3SLC17A5, GPT, AFP, SLC22A7, F2
47glutamate448.3SLC25A13, AFP, ASS1, GPT, SLC17A5
48creatinine448.2SLC17A5, ASS1, F2, GPT, AFP
49alanine448.2ASS1, AFP, GPT, F2, SLC17A5
50aspartate447.9GPT, F2, SLC17A5, SLC25A13, ASS1, AFP

GO Terms for genes affiliated with Citrin Deficiency

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16Gene Ontology
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Biological processes related to Citrin Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1gluconeogenesisGO:0060949.7SLC25A13, GPT

Products for genes affiliated with Citrin Deficiency

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  • Antibodies
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Sources for Citrin Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet