MCID: CTR003
MIFTS: 37

Citrin Deficiency malady

Genetic diseases (common) category

Summaries for Citrin Deficiency

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66Wikipedia, 20GeneReviews, 34MalaCards
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Wikipedia:66 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 intrahepatic cholestasis and 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 FOXA2 and FOXA3 transcription factor networks 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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20GeneReviews, 21GeneTests, 23GTR, 63UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Aliases & Descriptions:

citrin deficiency 20 21 23 63


Related Diseases for Citrin Deficiency

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18GeneCards, 19GeneDecks
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Diseases related to Citrin Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 50)
idRelated DiseaseScoreTop Affiliating Genes
1intrahepatic cholestasis31.4SLC25A13, SLC17A5
2cholestasis31.3SLC25A13, SLC17A5, GPT, F2
3hepatitis30.9SLC17A5, GPT
4citrullinemia30.6SLC25A13, ASS1
5adult-onset citrullinemia type ii30.6ASS1, SLC25A13
6galactosemia30.2GALK1, SLC25A13
7fatty liver disease30.2SLC25A13, SLC17A5, ASS1, GPT
8hepatic encephalopathy30.1SLC25A13, SLC17A5, ASS1, GPT, F2
9neonatal intrahepatic cholestasis caused by citrin deficiency10.9
10liver disease10.4
11failure to thrive and dyslipidemia caused by citrin deficiency10.4
12hepatitis a10.1F2
13hepatitis e10.1GPT
14gastroschisis10.1AFP
15neonatal hemochromatosis10.1SLC17A5, SLC25A13
16choledocholithiasis10.1GPT, SLC17A5
17pyridoxine deficiency10.1GPT, SLC17A5
18alcoholic liver cirrhosis10.1GPT, AFP
19obstructive jaundice10.1SLC17A5, GPT
20pre-eclampsia10.1AFP
21hellp syndrome10.1GPT, SLC17A5
22scrub typhus10.1SLC17A5, GPT
23vitamin k deficiency hemorrhagic disease10.0AFP, F2
24portal vein thrombosis10.0AFP, F2
25biliary atresia10.0GPT, SLC25A13
26alcohol abuse10.0GPT, SLC17A5
27placental abruption10.0F2, AFP
28cholangitis10.0GPT, SLC17A5
29splenomegaly10.0SLC17A5, GPT
30wilson disease10.0SLC17A5, GPT
31familial hyperlipidemia10.0GPT, SLC17A5, SLC25A13
32congenital stationary night blindness, type 1f10.0GPT, AFP, SLC17A5
33hypercholesterolemia10.0SLC17A5, GPT
34hyperammonemia multi-gene panels10.0SLC25A13, ASS1
35acute liver failure10.0SLC17A5, GPT, F2
36alcoholic hepatitis10.0F2, GPT, SLC17A5
37portal hypertension10.0F2, GPT, SLC17A5
38autoimmune hepatitis10.0F2, GPT, SLC17A5
39leukopenia10.0SLC17A5, GPT, F2
40primary biliary cirrhosis10.0SLC17A5, GPT, F2
41thrombocytopenia10.0F2, GPT, SLC17A5
42acute pancreatitis10.0SLC17A5, GPT
43brain disease10.0F2, GPT, SLC17A5, SLC25A13
44viral hepatitis10.0F2, GPT, AFP, SLC17A5
45liver cirrhosis10.0SLC17A5, AFP, GPT, F2
46hepatitis b10.0SLC17A5, AFP, GPT, F2
47hepatitis c10.0SLC17A5, AFP, GPT, F2
48metabolic syndrome x10.0SLC25A13, GALK1, ASS1
49bilirubin metabolic disorder10.0SLC22A7, SLC17A5, GPT, F2
50hepatocellular carcinoma9.9F2, GPT, AFP, ASS1, SLC17A5, SLC25A13

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



Diseases related to citrin deficiency

Symptoms for Citrin Deficiency

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Drugs & Therapeutics for Citrin Deficiency

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Citrin Deficiency

Search CenterWatch for Citrin Deficiency

Genetic Tests for Citrin Deficiency

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21GeneTests, 23GTR
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Genetic tests related to Citrin Deficiency:

id Genetic test Affiliating Genes
1 Citrin Deficiency21 23 SLC25A13

Anatomical Context for Citrin Deficiency

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34MalaCards
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MalaCards organs/tissues related to Citrin Deficiency:

34
Liver, Testes

Animal Models for Citrin Deficiency or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Citrin Deficiency:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.4SLC25A13, SLC17A5, GALK1, ASS1, AFP, F2

Publications for Citrin Deficiency

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53PubMed
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Articles related to Citrin Deficiency:

(show top 50)    (show all 73)
idTitleAuthorsYear
1
Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests. (23394329)
2013
2
Citrin deficiency in a Romanian child living in Spain highlights the worldwide distribution of this defect and illustrates the value of nutritional therapy. (23835251)
2013
3
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
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
Effects of supplementation on food intake, body weight and hepatic metabolites in the citrin/mitochondrial glycerol-3-phosphate dehydrogenase double-knockout mouse model of human citrin deficiency. (22921887)
2012
7
Biochemical characteristics of neonatal cholestasis induced by citrin deficiency. (23112554)
2012
8
Neonatal intrahepatic cholestasis caused by citrin deficiency: prevalence and SLC25A13 mutations among Thai infants. (23067347)
2012
9
Simple and rapid genetic testing for citrin deficiency by screening 11 prevalent mutations in SLC25A13. (22277121)
2012
10
A tribute to Keiko Kobayashi and her work on citrin deficiency. (22284267)
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
Metabolomic analysis reveals hepatic metabolite perturbations in citrin/mitochondrial glycerol-3-phosphate dehydrogenase double-knockout mice, a model of human citrin deficiency. (21908222)
2011
15
A new Caucasian case of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD): a clinical, molecular, and functional study. (21914561)
2011
16
A GC/MS-based metabolomic approach for diagnosing citrin deficiency. (21365350)
2011
17
Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in three Malay children. (20614727)
2010
18
Neonatal intrahepatic cholestasis caused by citrin deficiency in two Malaysian siblings: outcome at one year of life. (20200759)
2010
19
Studies on the clinical manifestation and SLC25A13 gene mutation of Chinese patients with neonatal intrahepatic cholestasis caused by citrin deficiency]. (20376801)
2010
20
Citrin deficiency and current treatment concepts. (20233664)
2010
21
Citrin deficiency: learn more, and don't forget to add it to the list of neonatal cholestasis and the NASH trash bin. (20479677)
2010
22
Histological findings in the livers of patients with neonatal intrahepatic cholestasis caused by citrin deficiency. (20070398)
2010
23
Citrin deficiency is an important etiology for cholestatic liver disease in children]. (19951499)
2009
24
Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) as a cause of liver disease in infants in the UK. (19517266)
2009
25
Failure to thrive and dyslipidemia caused by citrin deficiency: a novel clinical phenotype]. (19470249)
2009
26
Neonatal intrahepatic cholestasis caused by citrin deficiency: clinical and laboratory investigation of 13 subjects in mainland of China. (19185551)
2009
27
Identification and diagnosis of three novel mutations in SLC25A13 gene of neonatal intrahepatic cholestasis caused by citrin deficiency]. (19099775)
2008
28
Neonatal classical galactosaemia presenting as citrin deficiency. (18640739)
2008
29
Treatment of a citrin-deficient patient at the early stage of adult-onset type II citrullinaemia with arginine and sodium pyruvate. (18958581)
2008
30
Primary liver carcinoma exhibiting dual hepatocellular-biliary epithelial differentiations associated with citrin deficiency: a case report. (18385606)
2008
31
Citrin deficiency as a cause of chronic liver disorder mimicking non-alcoholic fatty liver disease. (18620775)
2008
32
SLC25A13 gene mutation analysis in a pedigree of neonatal intrahepatic cholestasis caused by citrin deficiency]. (17880783)
2007
33
Novel diagnostic approach to citrin deficiency: analysis of citrin protein in lymphocytes. (17092749)
2007
34
Neonatal intrahepatic cholestasis caused by citrin deficiency in Korean infants. (18162705)
2007
35
Six cases of citrin deficiency in Korea. (17982687)
2007
36
A difficult and complicated case study: neonatal intrahepatic cholestasis caused by citrin deficiency]. (16613706)
2006
37
Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiency. (16736097)
2006
38
Pyruvate ameliorates the defect in ureogenesis from ammonia in citrin-deficient mice. (16458993)
2006
39
Hepatic steatosis and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in Taiwanese infants. (16737877)
2006
40
Citrin deficiency presenting with ketotic hypoglycaemia and hepatomegaly in childhood. (15592876)
2005
41
Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency. (16059747)
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
Screening of nine SLC25A13 mutations: their frequency in patients with citrin deficiency and high carrier rates in Asian populations. (14680984)
2003
46
A novel inborn error of metabolism detected by elevated methionine and/or galactose in newborn screening: neonatal intrahepatic cholestasis caused by citrin deficiency. (12692712)
2003
47
Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations. (11793471)
2002
48
Infantile citrullinemia caused by citrin deficiency with increased dibasic amino acids. (12409267)
2002
49
Neonatal intrahepatic cholestasis caused by citrin deficiency: severe hepatic dysfunction in an infant requiring liver transplantation. (12424587)
2002
50
Type II citrullinaemia (citrin deficiency) in a neonate with hypergalactosaemia detected by mass screening. (11999983)
2002

Variations for Citrin Deficiency

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Expression for genes affiliated with Citrin Deficiency

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2BioGPS, 16Gene 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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Sources:
51PathCards, 39NCBI BioSystems Database, 31KEGG
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Pathways related to Citrin Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5AFP, F2
29.2ASS1, GPT
39.2ASS1, GPT

Compounds for genes affiliated with Citrin Deficiency

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Sources:
46Novoseek, 52PharmGKB, 12DrugBank, 30IUPHAR, 25HMDB, 62Tocris Bioscience, 3BitterDB
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Compounds related to Citrin Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 92)
idCompoundScoreTop Affiliating Genes
15-hydroxytryptophol4610.0SLC17A5, GPT
2alpha-hydroxybutyrate4610.0SLC17A5, GPT
3d-galactosamine4610.0SLC17A5, GPT
4lactulose4610.0GPT, SLC17A5
5adefovir469.9SLC17A5, GPT
6glycocholate469.9SLC17A5, GPT
7tenofovir46 52 1211.9SLC17A5, GPT
8glycyrrhizin46 3010.9SLC17A5, GPT
9monoethylglycinexylidide469.9GPT, F2
10nash469.8GPT, SLC17A5
11ximelagatran46 1210.8GPT, F2
12nevirapine46 52 1211.8SLC17A5, GPT
13antipyrine46 1210.8SLC17A5, F2
14cefoperazone46 1210.8SLC22A7, F2
15sevoflurane52 46 1211.7GPT, SLC17A5
16ribavirin46 52 1211.6SLC17A5, AFP, GPT
17ccl446 3010.6GPT, AFP, SLC17A5
18vitamin b12469.6SLC17A5, AFP, GPT
19uric acid46 2510.6SLC17A5, AFP, GPT
20levonorgestrel46 62 30 1212.6SLC17A5, F2
21hepaplastin469.6F2, GPT, SLC17A5
22aminopyrine469.6F2, GPT, SLC17A5
23lamivudine46 52 1211.6SLC17A5, GPT, F2
24ursodeoxycholic acid46 25 1211.6SLC17A5, GPT, F2
25silymarin469.5F2, GPT, SLC17A5
26isoniazid46 52 1211.5SLC17A5, GPT
27polyethylene glycol469.5SLC17A5, AFP, F2
28thyroxine46 2510.5SLC17A5, AFP, GPT
29pge1469.5F2, GPT, SLC17A5
30zidovudine46 52 1211.5SLC22A7, SLC17A5, GPT
31valproic acid46 52 25 1212.5SLC22A7, SLC17A5, GPT
32galactose469.5AFP, GALK1, SLC25A13
33L-Aspartic acid25 1210.4ASS1, SLC25A13
34clarithromycin46 1210.4SLC22A7, GPT, F2
35hyaluronic acid46 2510.4F2, GPT, SLC17A5
36epinephrine46 25 1211.2F2, AFP, SLC17A5
37acetaminophen46 3 52 25 1213.2SLC17A5, AFP, GPT, F2
38simvastatin46 52 62 30 25 1214.1F2, GPT, AFP, SLC17A5
39fibrinogen469.1F2, GPT, AFP, SLC17A5
40lactate469.1F2, GPT, AFP, SLC17A5
41pyruvate469.1SLC17A5, ASS1, GPT
42sodium46 2510.1GPT, AFP, SLC17A5, SLC22A7
43glutamine469.0GPT, AFP, GALK1, SLC17A5
44n acetylcysteine468.8SLC17A5, GPT, F2
45methotrexate52 46 1210.6SLC22A7, SLC17A5, AFP, GPT, F2
46urea46 25 1210.5SLC25A13, SLC17A5, ASS1, AFP, GPT
47glutamate468.5SLC25A13, SLC17A5, ASS1, AFP, GPT
48creatinine468.3F2, GPT, AFP, ASS1, SLC17A5
49alanine468.3F2, GPT, AFP, ASS1, SLC17A5
50aspartate468.0F2, GPT, AFP, ASS1, SLC17A5, SLC25A13

GO Terms for genes affiliated with Citrin Deficiency

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17Gene Ontology
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Biological processes related to Citrin Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1small molecule metabolic processGO:0442818.2SLC25A13, GALK1, ASS1, GPT

Products for genes affiliated with Citrin Deficiency

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Sources for Citrin Deficiency

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet