NICCD
MCID: NNT020
MIFTS: 45

Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (NICCD) malady

Genetic diseases, Rare diseases, Metabolic diseases categories
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Summaries for Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency

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NIH Rare Diseases:42 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 based summary: Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency, also known as citrullinemia, type ii, neonatal-onset, is related to citrin deficiency and intrahepatic cholestasis, and has symptoms including 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:46 605814

Aliases & Classifications for Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency

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Sources:
42NIH Rare Diseases, 62UMLS, 20GeneTests, 22GTR, 48Orphanet, 46OMIM, 26ICD10 via Orphanet
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Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency, Aliases & Descriptions:

Name: Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency 42 20 22 48
Citrullinemia, Type Ii, Neonatal-Onset 46 62
Citrin Deficiency 42 62
Niccd 42 48
 
Neonatal Intrahepatic Cholestasis Due to Citrin Deficiency 48
Neonatal-Onset Citrullinemia Type Ii 42
Neonatal-Onset Citrullinemia Type 2 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
neonatal intrahepatic cholestasis caused by citrin deficiency:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


External Ids:

OMIM46 605814
ICD10 via Orphanet26 E72.2

Related Diseases for Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency

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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 deficiency32.6SLC25A13
2intrahepatic cholestasis32.1SLC17A5, SLC25A13
3cholestasis31.4SLC25A13, SLC17A5, GPT, F2
4galactosemia30.9F2
5hepatitis30.4SLC17A5, AFP, GPT, F2
6fatty liver disease30.0SLC25A13, SLC17A5, GPT
7hepatic encephalopathy29.7SLC25A13, SLC17A5, GPT, F2
8liver disease10.6
9adult-onset citrullinemia type ii10.6
10hepatitis a10.4F2
11citrullinemia10.4
12failure to thrive and dyslipidemia caused by citrin deficiency10.4
13gastroschisis10.3AFP
14hepatitis e10.2GPT
15pre-eclampsia10.2AFP
16neonatal hemochromatosis10.2SLC17A5, SLC25A13
17vitamin k deficiency hemorrhagic disease10.1AFP, F2
18portal vein thrombosis10.1F2, AFP
19placental abruption10.1F2, AFP
20choledocholithiasis10.1GPT, SLC17A5
21pyridoxine deficiency10.0GPT, SLC17A5
22obstructive jaundice10.0GPT, SLC17A5
23hellp syndrome10.0GPT, SLC17A5
24alcoholic liver cirrhosis10.0GPT, AFP
25scrub typhus10.0SLC17A5, GPT
26biliary atresia10.0GPT, SLC25A13
27alcohol abuse10.0GPT, SLC17A5
28cholangitis10.0GPT, SLC17A5
29splenomegaly9.9GPT, SLC17A5
30wilson disease9.9SLC17A5, GPT
31acute pancreatitis9.9SLC17A5, GPT
32myopathy9.9SLC17A5, GPT
33factor v leiden thrombophilia9.9SLC17A5, F2
34acute liver failure9.8F2, GPT, SLC17A5
35hypercholesterolemia9.8GPT, SLC17A5
36familial hyperlipidemia9.8SLC25A13, SLC17A5, GPT
37alcoholic hepatitis9.8F2, GPT, SLC17A5
38bilirubin metabolic disorder9.8F2, GPT, SLC17A5
39portal hypertension9.8F2, GPT, SLC17A5
40autoimmune hepatitis9.8SLC17A5, GPT, F2
41leukopenia9.8F2, GPT, SLC17A5
42primary biliary cirrhosis9.8F2, GPT, SLC17A5
43thrombocytopenia9.8F2, GPT, SLC17A5
4421-hydroxylase deficiency9.8GPT, AFP, SLC17A5
45brain disease9.6F2, GPT, SLC17A5, SLC25A13
46viral hepatitis9.6SLC17A5, AFP, GPT, F2
47liver cirrhosis9.6F2, GPT, AFP, SLC17A5
48hepatitis b9.6F2, GPT, AFP, SLC17A5
49hepatitis c9.6SLC17A5, AFP, GPT, F2
50liver cancer9.4F2, GPT, AFP, SLC17A5, SLC25A13

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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Symptoms by clinical synopsis from OMIM:

605814

Clinical features from OMIM:

605814

HPO human phenotypes related to Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency:

(show all 11)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 cirrhosis HP:0001394
3 intrahepatic cholestasis HP:0001406
4 failure to thrive HP:0001508
5 growth delay HP:0001510
6 hypertriglyceridemia HP:0002155
7 hyperbilirubinemia HP:0002904
8 hypercholesterolemia HP:0003124
9 hypoalphalipoproteinemia HP:0003233
10 hypermethioninemia HP:0003235
11 elevated plasma citrulline HP:0011966

Drugs & Therapeutics for Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency

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Drug clinical trials:

Search ClinicalTrials for Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency

Search NIH Clinical Center for Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency

Genetic Tests for Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency

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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 Deficiency20 22

Anatomical Context for Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency

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

32
Liver

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

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

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053768.4SLC25A13, SLC17A5, AFP, F2

Publications for Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency

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Articles related to Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency:

(show all 26)
idTitleAuthorsYear
1
Clinical, molecular and functional investigation on an infant with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). (24586645)
2014
2
Treatment with lactose (galactose)-restricted and medium-chain triglyceride-supplemented formula for neonatal intrahepatic cholestasis caused by citrin deficiency. (23430852)
2012
3
Neonatal intrahepatic cholestasis caused by citrin deficiency: prevalence and SLC25A13 mutations among Thai infants. (23067347)
2012
4
Utilization of high-resolution melting analysis to screen patients with neonatal intrahepatic cholestasis caused by citrin deficiency]. (22487826)
2012
5
Multiple ovarian antral follicles in a preterm infant with neonatal intrahepatic cholestasis caused by citrin deficiency: a clinical, genetic and transcriptional analysis. (22710133)
2012
6
Diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency using high-resolution melting analysis and a clinical scoring system. (22575253)
2012
7
A new Caucasian case of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD): a clinical, molecular, and functional study. (21914561)
2011
8
Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in three Malay children. (20614727)
2010
9
Neonatal intrahepatic cholestasis caused by citrin deficiency in two Malaysian siblings: outcome at one year of life. (20200759)
2010
10
Studies on the clinical manifestation and SLC25A13 gene mutation of Chinese patients with neonatal intrahepatic cholestasis caused by citrin deficiency]. (20376801)
2010
11
Histological findings in the livers of patients with neonatal intrahepatic cholestasis caused by citrin deficiency. (20070398)
2010
12
Liver transplantation for an infant with neonatal intrahepatic cholestasis caused by citrin deficiency using heterozygote living donor. (19413723)
2010
13
Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) as a cause of liver disease in infants in the UK. (19517266)
2009
14
Neonatal intrahepatic cholestasis caused by citrin deficiency: clinical and laboratory investigation of 13 subjects in mainland of China. (19185551)
2009
15
Identification and diagnosis of three novel mutations in SLC25A13 gene of neonatal intrahepatic cholestasis caused by citrin deficiency]. (19099775)
2008
16
Chubby face and the biochemical parameters for the early diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency. (18664871)
2008
17
SLC25A13 gene mutation analysis in a pedigree of neonatal intrahepatic cholestasis caused by citrin deficiency]. (17880783)
2007
18
Neonatal intrahepatic cholestasis caused by citrin deficiency in Korean infants. (18162705)
2007
19
Clinical pictures of 75 patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). (17323144)
2007
20
A difficult and complicated case study: neonatal intrahepatic cholestasis caused by citrin deficiency]. (16613706)
2006
21
Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiency. (16736097)
2006
22
Hepatic steatosis and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in Taiwanese infants. (16737877)
2006
23
A possible mechanism of neonatal intrahepatic cholestasis caused by citrin deficiency. (15777702)
2005
24
Clinical heterogeneity of neonatal intrahepatic cholestasis caused by citrin deficiency: case reports from 16 patients. (15542392)
2004
25
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
26
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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UniProtKB/Swiss-Prot genetic disease variations for Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency:

64
id Symbol AA change Variation ID SNP ID
1SLC25A13p.Glu601LysVAR_016601

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

6 (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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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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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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Compounds related to Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 95)
idCompoundScoreTop Affiliating Genes
1antipyrine44 1110.7F2, SLC17A5
2levonorgestrel44 61 28 1112.6SLC17A5, F2
3amiodarone44 50 28 1112.5F2, SLC17A5
45-hydroxytryptophol449.5SLC17A5, GPT
5alpha-hydroxybutyrate449.5GPT, SLC17A5
6monoethylglycinexylidide449.5F2, GPT
7ximelagatran44 1110.5GPT, F2
8d-galactosamine449.5GPT, SLC17A5
9lactulose449.5SLC17A5, GPT
10glycocholate449.5SLC17A5, GPT
11adefovir449.5GPT, SLC17A5
12tenofovir44 50 1111.5SLC17A5, GPT
13glycyrrhizin44 2810.4SLC17A5, GPT
14nash449.4SLC17A5, GPT
15nevirapine44 50 1111.4SLC17A5, GPT
16clarithromycin44 1110.4GPT, F2
17sevoflurane50 44 1111.4SLC17A5, GPT
18isoniazid44 50 1111.3GPT, SLC17A5
19polyethylene glycol449.2AFP, F2, SLC17A5
20ezetimibe44 1110.2GPT, SLC17A5
21rosuvastatin44 50 28 1112.1GPT, SLC17A5
22epinephrine44 24 1111.1SLC17A5, F2, AFP
23hepaplastin449.1F2, SLC17A5, GPT
24aminopyrine449.1SLC17A5, GPT, F2
25lamivudine44 50 1111.0SLC17A5, GPT, F2
26ursodeoxycholic acid44 24 1111.0GPT, SLC17A5, F2
27silymarin449.0GPT, F2, SLC17A5
28isoflurane50 44 1111.0SLC17A5, GPT
29pge1449.0SLC17A5, F2, GPT
30hyaluronic acid44 2410.0GPT, SLC17A5, F2
31ribavirin44 50 1110.9GPT, AFP, SLC17A5
32ccl444 289.9AFP, GPT, SLC17A5
33vitamin b12448.9GPT, SLC17A5, AFP
34n acetylcysteine448.9F2, GPT, SLC17A5
35uric acid44 249.9GPT, AFP, SLC17A5
36thyroxine44 249.9GPT, AFP, SLC17A5
37flutamide44 61 1110.8GPT, SLC17A5
38ethanol44 50 24 1111.8GPT, SLC17A5, AFP
39glycogen44 249.7AFP, SLC17A5, GPT
40potassium44 24 1110.5SLC17A5, GPT, AFP
41urea44 24 1110.5SLC25A13, SLC17A5, AFP, GPT
42acetaminophen44 2 50 24 1112.4GPT, F2, AFP, SLC17A5
43simvastatin44 50 61 28 24 1113.4F2, GPT, AFP, SLC17A5
44methotrexate50 44 1110.4GPT, SLC17A5, AFP, F2
45fibrinogen448.4SLC17A5, F2, GPT, AFP
46glutamate448.4GPT, AFP, SLC17A5, SLC25A13
47lactate448.4AFP, SLC17A5, F2, GPT
48creatinine448.4SLC17A5, AFP, GPT, F2
49alanine448.3SLC17A5, AFP, GPT, F2
50aspartate448.0SLC17A5, 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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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet