NICCD
MCID: NNT020
MIFTS: 44

Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (NICCD) malady

Genetic diseases, Rare diseases categories

Summaries for Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency

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44NIH Rare Diseases, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 Neonatal intrahepatic cholestasis caused by citrin deficiency (niccd) is a liver condition is also known as neonatal-onset type ii citrullinemia. niccd blocks the flow of bile (a digestive fluid produced by the liver) and prevents the body from processing certain nutrients properly. this leads to transient intrahepatic cholestasis and variable liver dysfunction in children younger than one year of age. niccd is generally not severe, and symptoms disappear by age one year with appropriate treatment. years or even decades later, however, some of these individuals develop the characteristic features of adult-onset type ii citrullinemia. niccd is caused by mutations in the slc25a13 gene. this condition is inherited in an autosomal recessive pattern. last updated: 7/11/2011

MalaCards: Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency, also known as citrullinemia, type ii, neonatal-onset, is related to citrin deficiency and intrahepatic cholestasis. An important gene associated with Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency is SLC25A13 (solute carrier family 25 (aspartate/glutamate carrier), member 13), and among its related pathways is FOXA2 and FOXA3 transcription factor networks. The compounds antipyrine and levonorgestrel have been mentioned in the context of this disorder. Affiliated tissues include liver, and related mouse phenotype homeostasis/metabolism.

Description from OMIM:48 605814

Aliases & Classifications for Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency

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44NIH Rare Diseases, 63UMLS, 21GeneTests, 23GTR, 50Orphanet, 48OMIM, 27ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
neonatal intrahepatic cholestasis caused by citrin deficiency:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

neonatal intrahepatic cholestasis caused by citrin deficiency 44 21 23 50
citrullinemia, type ii, neonatal-onset 48 63
citrin deficiency 44 63
niccd 44 50
neonatal intrahepatic cholestasis due to citrin deficiency 50
neonatal-onset citrullinemia type ii 44
neonatal-onset citrullinemia type 2 44


External Ids:

OMIM48 605814
ICD10 via Orphanet27 E72.2

Related Diseases for Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency

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

(show all 50)
idRelated DiseaseScoreTop Affiliating Genes
1citrin deficiency32.0SLC25A13
2intrahepatic cholestasis31.9SLC25A13, SLC17A5
3cholestasis31.7SLC25A13, F2, GPT, SLC17A5
4hepatitis31.1SLC17A5, GPT
5galactosemia30.3F2
6fatty liver disease30.1GPT, SLC25A13, SLC17A5
7hepatic encephalopathy30.1F2, SLC25A13, SLC17A5, GPT
8liver disease10.6
9adult-onset citrullinemia type ii10.6
10citrullinemia10.4
11failure to thrive and dyslipidemia caused by citrin deficiency10.4
12hepatitis a10.1F2
13gastroschisis10.1AFP
14hepatitis e10.1GPT
15pre-eclampsia10.1AFP
16neonatal hemochromatosis10.0SLC25A13, SLC17A5
17vitamin k deficiency hemorrhagic disease10.0AFP, F2
18portal vein thrombosis10.0F2, AFP
19placental abruption10.0AFP, F2
20choledocholithiasis10.0GPT, SLC17A5
21pyridoxine deficiency10.0SLC17A5, GPT
22obstructive jaundice10.0SLC17A5, GPT
23factor v leiden thrombophilia10.0SLC17A5, F2
24hellp syndrome10.0GPT, SLC17A5
25biliary atresia10.0GPT, SLC25A13
26alcoholic liver cirrhosis10.0GPT, AFP
27scrub typhus10.0GPT, SLC17A5
28cholangitis10.0GPT, SLC17A5
29alcohol abuse10.0SLC17A5, GPT
30splenomegaly10.0GPT, SLC17A5
31wilson disease10.0SLC17A5, GPT
32acute pancreatitis10.0GPT, SLC17A5
33acute liver failure10.0GPT, F2, SLC17A5
34familial hyperlipidemia10.0GPT, SLC25A13, SLC17A5
35hypercholesterolemia10.0SLC17A5, GPT
36bilirubin metabolic disorder10.0SLC17A5, GPT, F2
37alcoholic hepatitis10.0SLC17A5, F2, GPT
38portal hypertension10.0SLC17A5, GPT, F2
39autoimmune hepatitis10.0F2, GPT, SLC17A5
40leukopenia10.0GPT, SLC17A5, F2
41primary biliary cirrhosis10.0SLC17A5, GPT, F2
42thrombocytopenia10.0SLC17A5, F2, GPT
43congenital stationary night blindness, type 1f9.9AFP, SLC17A5, GPT
44myopathy9.9SLC17A5, GPT
45brain disease9.9GPT, SLC25A13, F2, SLC17A5
46viral hepatitis9.9SLC17A5, AFP, F2, GPT
47liver cirrhosis9.9SLC17A5, AFP, GPT, F2
48hepatitis b9.9SLC17A5, GPT, AFP, F2
49hepatitis c9.9GPT, SLC17A5, AFP, F2
50hepatocellular carcinoma9.8SLC25A13, GPT, SLC17A5, AFP, F2

Graphical network of the top 20 diseases related to Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency:



Diseases related to neonatal intrahepatic cholestasis caused by citrin deficiency

Symptoms for Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency

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48OMIM
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Symptoms by clinical synopsis from OMIM:

605814

Clinical features from OMIM:

605814

Drugs & Therapeutics for Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency

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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 Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency

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Genetic Tests for Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency

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21GeneTests, 23GTR
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Genetic tests related to Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency:

id Genetic test Affiliating Genes
1 Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency21 23

Anatomical Context for Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency

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34MalaCards
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MalaCards organs/tissues related to Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency:

34
Liver

Animal Models for Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053768.4SLC25A13, SLC17A5, AFP, F2

Publications for Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency

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53PubMed
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Articles related to Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency:

(show all 25)
idTitleAuthorsYear
1
Treatment with lactose (galactose)-restricted and medium-chain triglyceride-supplemented formula for neonatal intrahepatic cholestasis caused by citrin deficiency. (23430852)
2012
2
Neonatal intrahepatic cholestasis caused by citrin deficiency: prevalence and SLC25A13 mutations among Thai infants. (23067347)
2012
3
Utilization of high-resolution melting analysis to screen patients with neonatal intrahepatic cholestasis caused by citrin deficiency]. (22487826)
2012
4
Multiple ovarian antral follicles in a preterm infant with neonatal intrahepatic cholestasis caused by citrin deficiency: a clinical, genetic and transcriptional analysis. (22710133)
2012
5
Diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency using high-resolution melting analysis and a clinical scoring system. (22575253)
2012
6
A new Caucasian case of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD): a clinical, molecular, and functional study. (21914561)
2011
7
Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in three Malay children. (20614727)
2010
8
Neonatal intrahepatic cholestasis caused by citrin deficiency in two Malaysian siblings: outcome at one year of life. (20200759)
2010
9
Studies on the clinical manifestation and SLC25A13 gene mutation of Chinese patients with neonatal intrahepatic cholestasis caused by citrin deficiency]. (20376801)
2010
10
Histological findings in the livers of patients with neonatal intrahepatic cholestasis caused by citrin deficiency. (20070398)
2010
11
Liver transplantation for an infant with neonatal intrahepatic cholestasis caused by citrin deficiency using heterozygote living donor. (19413723)
2010
12
Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) as a cause of liver disease in infants in the UK. (19517266)
2009
13
Neonatal intrahepatic cholestasis caused by citrin deficiency: clinical and laboratory investigation of 13 subjects in mainland of China. (19185551)
2009
14
Identification and diagnosis of three novel mutations in SLC25A13 gene of neonatal intrahepatic cholestasis caused by citrin deficiency]. (19099775)
2008
15
Chubby face and the biochemical parameters for the early diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency. (18664871)
2008
16
SLC25A13 gene mutation analysis in a pedigree of neonatal intrahepatic cholestasis caused by citrin deficiency]. (17880783)
2007
17
Neonatal intrahepatic cholestasis caused by citrin deficiency in Korean infants. (18162705)
2007
18
Clinical pictures of 75 patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). (17323144)
2007
19
A difficult and complicated case study: neonatal intrahepatic cholestasis caused by citrin deficiency]. (16613706)
2006
20
Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiency. (16736097)
2006
21
Hepatic steatosis and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in Taiwanese infants. (16737877)
2006
22
A possible mechanism of neonatal intrahepatic cholestasis caused by citrin deficiency. (15777702)
2005
23
Clinical heterogeneity of neonatal intrahepatic cholestasis caused by citrin deficiency: case reports from 16 patients. (15542392)
2004
24
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
25
Neonatal intrahepatic cholestasis caused by citrin deficiency: severe hepatic dysfunction in an infant requiring liver transplantation. (12424587)
2002

Variations for Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency:

65
id Symbol AA change Variation ID SNP ID
1SLC25A13p.Glu601LysVAR_016601

Clinvar genetic disease variations for Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency:

1 (show all 13)
id Gene Name Type Significance SNP ID Assembly Location
1SLC25A13NM_014251.2(SLC25A13): c.1078C> T (p.Arg360Ter)single nucleotide variantPathogenicrs80338721GRCh37Chr 7, 95813688: 95813688
2SLC25A13NM_014251.2(SLC25A13): c.1592G> A (p.Gly531Asp)single nucleotide variantPathogenicrs80338724GRCh37Chr 7, 95751309: 95751309
3SLC25A13NM_014251.2(SLC25A13): c.15G> A (p.Lys5=)single nucleotide variantPathogenicrs80338715GRCh37Chr 7, 95951254: 95951254
4SLC25A13NM_014251.2: c.1750_1751[insNM_138459.3: 2672_24;1750+72_1751-4dup]duplicationPathogenic
5SLC25A13NM_014251.2(SLC25A13): c.1801G> A (p.Glu601Lys)single nucleotide variantPathogenicrs80338727GRCh37Chr 7, 95751007: 95751007
6SLC25A13NM_014251.2(SLC25A13): c.1801G> T (p.Glu601Ter)single nucleotide variantPathogenicrs80338727GRCh37Chr 7, 95751007: 95751007
7SLC25A13NM_014251.2(SLC25A13): c.1813C> T (p.Arg605Ter)single nucleotide variantPathogenicrs80338729GRCh37Chr 7, 95750995: 95750995
8SLC25A13NM_014251.2(SLC25A13): c.550C> T (p.Arg184Ter)single nucleotide variantPathogenicrs80338716GRCh37Chr 7, 95822414: 95822414
9SLC25A13NM_014251.2(SLC25A13): c.615+1G> Csingle nucleotide variantPathogenicrs80338718GRCh37Chr 7, 95822348: 95822348
10SLC25A13NM_014251.2(SLC25A13): c.615+5G> Asingle nucleotide variantPathogenicrs80338717GRCh37Chr 7, 95822344: 95822344
11SLC25A13NM_014251.2(SLC25A13): c.851_854delGTAT (p.Met285Profs)deletionPathogenicrs80338720GRCh37Chr 7, 95818685: 95818688
12SLC25A13NM_014251.2(SLC25A13): c.1177+1G> Asingle nucleotide variantPathogenicrs80338722GRCh37Chr 7, 95813588: 95813588
13SLC25A13NM_014251.2(SLC25A13): c.1799dupA (p.Tyr600Terfs)duplicationPathogenicrs80338726GRCh37Chr 7, 95751008: 95751009

Expression for genes affiliated with Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency

Search GEO for disease gene expression data for Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency.

Pathways for genes affiliated with Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency

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51PathCards, 39NCBI BioSystems Database
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Pathways related to Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3AFP, F2

Compounds for genes affiliated with Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency

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

(show top 50)    (show all 95)
idCompoundScoreTop Affiliating Genes
1antipyrine46 1210.7F2, SLC17A5
2levonorgestrel46 62 30 1212.6SLC17A5, F2
3amiodarone46 52 30 1212.5F2, SLC17A5
45-hydroxytryptophol469.5SLC17A5, GPT
5alpha-hydroxybutyrate469.5GPT, SLC17A5
6monoethylglycinexylidide469.5F2, GPT
7ximelagatran46 1210.5GPT, F2
8d-galactosamine469.5GPT, SLC17A5
9lactulose469.5SLC17A5, GPT
10glycocholate469.5SLC17A5, GPT
11adefovir469.5GPT, SLC17A5
12tenofovir46 52 1211.5SLC17A5, GPT
13glycyrrhizin46 3010.4SLC17A5, GPT
14nash469.4SLC17A5, GPT
15nevirapine46 52 1211.4SLC17A5, GPT
16clarithromycin46 1210.4GPT, F2
17sevoflurane52 46 1211.4SLC17A5, GPT
18isoniazid46 52 1211.3GPT, SLC17A5
19polyethylene glycol469.2AFP, F2, SLC17A5
20ezetimibe46 1210.2GPT, SLC17A5
21rosuvastatin46 52 30 1212.1GPT, SLC17A5
22epinephrine46 25 1211.1SLC17A5, F2, AFP
23hepaplastin469.1F2, SLC17A5, GPT
24aminopyrine469.1SLC17A5, GPT, F2
25lamivudine46 52 1211.0SLC17A5, GPT, F2
26ursodeoxycholic acid46 25 1211.0GPT, SLC17A5, F2
27silymarin469.0GPT, F2, SLC17A5
28isoflurane52 46 1211.0SLC17A5, GPT
29pge1469.0SLC17A5, F2, GPT
30hyaluronic acid46 2510.0GPT, SLC17A5, F2
31ribavirin46 52 1210.9GPT, AFP, SLC17A5
32ccl446 309.9AFP, GPT, SLC17A5
33vitamin b12468.9GPT, SLC17A5, AFP
34n acetylcysteine468.9F2, GPT, SLC17A5
35uric acid46 259.9GPT, AFP, SLC17A5
36thyroxine46 259.9GPT, AFP, SLC17A5
37flutamide46 62 1210.8GPT, SLC17A5
38ethanol46 52 25 1211.8GPT, SLC17A5, AFP
39glycogen46 259.7AFP, SLC17A5, GPT
40potassium46 25 1210.5SLC17A5, GPT, AFP
41urea46 25 1210.5SLC25A13, SLC17A5, AFP, GPT
42acetaminophen46 3 52 25 1212.4GPT, F2, AFP, SLC17A5
43simvastatin46 52 62 30 25 1213.4F2, GPT, AFP, SLC17A5
44methotrexate52 46 1210.4GPT, SLC17A5, AFP, F2
45fibrinogen468.4SLC17A5, F2, GPT, AFP
46glutamate468.4GPT, AFP, SLC17A5, SLC25A13
47lactate468.4AFP, SLC17A5, F2, GPT
48creatinine468.4SLC17A5, AFP, GPT, F2
49alanine468.3SLC17A5, AFP, GPT, F2
50aspartate468.0SLC17A5, AFP, SLC25A13, GPT, F2

GO Terms for genes affiliated with Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency

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Products for genes affiliated with Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency

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Sources for Neonatal Intrahepatic Cholestasis Caused by 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