NICCD
MCID: NNT020
MIFTS: 38

Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (NICCD) malady

Metabolic diseases category

Summaries for Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency

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42NIH Rare Diseases, 46OMIM, 32MalaCards
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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: 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 5-hydroxytryptophol and alpha-hydroxybutyrate have been mentioned in the context of this disorder. Affiliated tissues include liver.

Description from OMIM:46 605814

Aliases & Classifications for Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency

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42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 48Orphanet, 60UMLS, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

neonatal intrahepatic cholestasis caused by citrin deficiency 42 20 22 48
citrullinemia, type ii, neonatal-onset 46 60
citrin deficiency 42 60
niccd 42 48
neonatal intrahepatic cholestasis due to citrin deficiency 48
neonatal-onset citrullinemia type ii 42
neonatal-onset citrullinemia type 2 42


External Ids:

OMIM46 605814
ICD10 via Orphanet26 E72.2

Related Diseases for Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency

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17GeneCards, 18GeneDecks
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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 top 50)    (show all 63)
idRelated DiseaseScoreTop Affiliating Genes
1citrin deficiency31.8SLC25A13
2intrahepatic cholestasis31.8SLC25A13, SLC17A5
3cholestasis31.8SLC17A5, SLC25A13, F2, GPT
4hepatitis30.9SLC17A5, F2, GPT, AFP
5hepatitis a30.1F2
6galactosemia30.1F2
7fatty liver disease30.1GPT, SLC25A13, SLC17A5
8hepatic encephalopathy30.1GPT, F2, SLC25A13, SLC17A5
9hepatocellular carcinoma30.1AFP, GPT, F2, SLC25A13, SLC17A5
10liver disease10.5
11adult-onset citrullinemia type ii10.5
12citrullinemia10.3
13failure to thrive and dyslipidemia caused by citrin deficiency10.2
14cryoglobulinemia10.0SLC17A5
15neural tube defects10.0AFP
16cholangiocarcinoma10.0AFP
17hyperthyroidism10.0SLC17A5
18hepatitis e10.0GPT
19tyrosinemia10.0AFP
20cholelithiasis10.0GPT
21gastroschisis10.0AFP
22pancreatitis10.0SLC17A5
23diabetes mellitus10.0GPT
24esophageal varix10.0F2
25peritonitis10.0F2
26thromboembolism10.0F2
27stomach cancer10.0AFP
28neonatal hemochromatosis10.0SLC25A13, SLC17A5
29biliary atresia10.0GPT, SLC25A13
30cholecystitis10.0GPT
31hypertension10.0F2
32acute pancreatitis10.0SLC17A5, GPT
33hypercholesterolemia10.0SLC17A5, GPT
34hellp syndrome10.0GPT, SLC17A5
35alcoholic liver cirrhosis10.0AFP, GPT
36pyridoxine deficiency10.0GPT, SLC17A5
37wilson disease10.0SLC17A5, GPT
38cholangitis10.0SLC17A5, GPT
39obstructive jaundice10.0SLC17A5, GPT
40choledocholithiasis10.0SLC17A5, GPT
41scrub typhus10.0GPT, SLC17A5
42vitamin k deficiency hemorrhagic disease10.0F2, AFP
43splenomegaly10.0SLC17A5, GPT
44portal vein thrombosis10.0F2, AFP
45disseminated intravascular coagulation10.0F2
46familial hyperlipidemia10.0GPT, SLC25A13, SLC17A5
47placental abruption10.0F2, AFP
48congenital stationary night blindness, type 1f10.0SLC17A5, GPT, AFP
49alcohol abuse10.0GPT, SLC17A5
50acute liver failure10.0SLC17A5, F2, GPT

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

Clinical Features for Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency

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46OMIM
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Clinical features from OMIM:

605814

Clinical synopsis from OMIM:

605814

Drugs & Therapeutics for Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency

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

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Drug clinical trials:

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Genetic Tests for Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency

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20GeneTests, 22GTR
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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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32MalaCards
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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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Publications for Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency

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Genetic Variations for Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency:

62
id Symbol AA change Variation ID SNP ID
1SLC25A13p.Glu601LysVAR_016601

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

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1BioGPS, 15Gene 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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37NCBI 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
19.1F2, AFP

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

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

(show top 50)    (show all 78)
idCompoundScoreTop Affiliating Genes
15-hydroxytryptophol449.7SLC17A5, GPT
2alpha-hydroxybutyrate449.7SLC17A5, GPT
3d-galactosamine449.7GPT, SLC17A5
4lactulose449.7SLC17A5, GPT
5adefovir449.7SLC17A5, GPT
6glycocholate449.7GPT, SLC17A5
7tenofovir44 49 1111.7SLC17A5, GPT
8glycyrrhizin44 2810.7GPT, SLC17A5
9nash449.6GPT, SLC17A5
10nevirapine44 49 1111.6SLC17A5, GPT
11sevoflurane44 1110.6SLC17A5, GPT
12lamivudine44 1110.6SLC17A5, F2
13isoniazid49 44 1111.6SLC17A5, GPT
14ezetimibe44 1110.4SLC17A5, GPT
15monoethylglycinexylidide449.4F2, GPT
16ximelagatran44 1110.4F2, GPT
17antipyrine44 1110.4SLC17A5, F2
18isoflurane44 1110.4GPT, SLC17A5
19flutamide44 59 1111.3GPT, SLC17A5
20levonorgestrel44 59 28 1112.3F2, SLC17A5
21amiodarone44 49 28 1112.3SLC17A5, F2
22clarithromycin44 1110.3GPT, F2
23ribavirin44 49 1111.2SLC17A5, AFP, GPT
24ccl444 2810.2SLC17A5, GPT, AFP
25vitamin b12449.2SLC17A5, GPT, AFP
26uric acid44 2410.2GPT, SLC17A5, AFP
27thyroxine44 2410.2AFP, SLC17A5, GPT
28rosuvastatin44 49 28 1112.0GPT, SLC17A5
29ethanol44 49 11 2412.0SLC17A5, AFP, GPT
30polyethylene glycol449.0SLC17A5, AFP, F2
31hepaplastin449.0SLC17A5, F2, GPT
32aminopyrine449.0GPT, SLC17A5, F2
33ursodeoxycholic acid44 11 2410.9SLC17A5, F2, GPT
34silymarin448.9SLC17A5, GPT, F2
35pge1448.9GPT, SLC17A5, F2
36epinephrine44 11 2410.9AFP, SLC17A5, F2
37hyaluronic acid44 249.9SLC17A5, GPT, F2
38potassium44 11 2410.8SLC17A5, GPT, AFP
39urea44 11 2410.8AFP, GPT, SLC25A13, SLC17A5
40n acetylcysteine448.8GPT, F2, SLC17A5
41glycogen44 249.7AFP, GPT, SLC17A5
42glutamate448.7AFP, SLC17A5, SLC25A13, GPT
43acetaminophen44 2 49 11 2412.4F2, SLC17A5, AFP, GPT
44simvastatin44 49 59 28 11 2413.4SLC17A5, GPT, AFP, F2
45methotrexate44 49 1110.4F2, SLC17A5, GPT, AFP
46fibrinogen448.4F2, SLC17A5, GPT, AFP
47lactate448.4SLC17A5, AFP, GPT, F2
48creatinine448.4AFP, GPT, F2, SLC17A5
49alanine448.3F2, AFP, SLC17A5, GPT
50aspartate448.0SLC25A13, SLC17A5, F2, AFP, GPT

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

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16Gene Ontology
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Biological processes related to Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1gluconeogenesisGO:0060949.4SLC25A13, GPT

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet