NICCD
MCID: NNT020
MIFTS: 33

Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (NICCD) malady

Metabolic category

Summaries for Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency

Sources:
43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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:47 605814

Aliases & Classifications for Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency

Sources:
43NIH Rare Diseases, 61UMLS, 20GeneTests, 22GTR, 49Orphanet, 47OMIM, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Metabolic


Characteristics (Orphanet epidemiological data):

49
neonatal intrahepatic cholestasis caused by citrin deficiency:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

neonatal intrahepatic cholestasis caused by citrin deficiency 43 20 22 49
citrullinemia, type ii, neonatal-onset 47 61
citrin deficiency 43 61
niccd 43 49
neonatal intrahepatic cholestasis due to citrin deficiency 49
neonatal-onset citrullinemia type ii 43
neonatal-onset citrullinemia type 2 43


External Ids:

OMIM47 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 68)
idRelated DiseaseScoreTop Affiliating Genes
1citrin deficiency31.8SLC25A13
2intrahepatic cholestasis31.8SLC17A5, SLC25A13
3hepatitis a30.3F2
4hepatitis c30.3AFP, GPT, SLC17A5, F2
5fatty liver disease30.1SLC25A13, GPT, SLC17A5
6adult-onset citrullinemia type ii10.5
7citrullinemia10.3
8hepatitis d10.2
9protein c deficiency10.2
10citrullinemia type i10.2
11failure to thrive and dyslipidemia caused by citrin deficiency10.2
12adult-onset citrullinemia type i10.2
13t lymphocyte deficiency10.1
14protein r deficiency10.1
15cryoglobulinemia10.0SLC17A5
16neural tube defects10.0AFP
17cholangiocarcinoma10.0AFP
18hyperthyroidism10.0SLC17A5
19hepatitis e10.0GPT
20tyrosinemia10.0AFP
21cholelithiasis10.0GPT
22gastroschisis10.0AFP
23pancreatitis10.0SLC17A5
24diabetes mellitus10.0GPT
25galactosemia10.0F2
26esophageal varix10.0F2
27peritonitis10.0F2
28thromboembolism10.0F2
29stomach cancer10.0AFP
30neonatal hemochromatosis10.0SLC17A5, SLC25A13
31biliary atresia10.0GPT, SLC25A13
32cholecystitis10.0GPT
33hypertension10.0F2
34acute pancreatitis10.0GPT, SLC17A5
35hypercholesterolemia10.0GPT, SLC17A5
36hellp syndrome10.0GPT, SLC17A5
37alcoholic liver cirrhosis10.0AFP, GPT
38pyridoxine deficiency10.0SLC17A5, GPT
39wilson disease10.0GPT, SLC17A5
40cholangitis10.0GPT, SLC17A5
41obstructive jaundice10.0GPT, SLC17A5
42choledocholithiasis10.0SLC17A5, GPT
43scrub typhus10.0SLC17A5, GPT
44vitamin k deficiency hemorrhagic disease10.0AFP, F2
45splenomegaly10.0GPT, SLC17A5
46portal vein thrombosis10.0AFP, F2
47disseminated intravascular coagulation10.0F2
48familial hyperlipidemia10.0SLC17A5, SLC25A13, GPT
49placental abruption10.0AFP, F2
50congenital generalized lipodystrophy type 310.0AFP, SLC17A5, 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

Sources:
47OMIM
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Clinical features from OMIM:

605814

Clinical synopsis from OMIM:

605814

Drugs & Therapeutics for Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency

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

Search CenterWatch for Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency

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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33MalaCards
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MalaCards organs/tissues related to Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency:

33
Liver

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

Sources:
28inGenious Targeting Laboratory
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Publications for Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency

Genetic Variations for Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency:

63
id Symbol AA change Variation SNP ID
1SLC25A13p.Glu601LysVAR_016601

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

Sources:
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

Sources:
38NCBI 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

Sources:
45Novoseek, 50PharmGKB, 11DrugBank, 29IUPHAR, 60Tocris 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-hydroxytryptophol459.7SLC17A5, GPT
2alpha-hydroxybutyrate459.7SLC17A5, GPT
3d-galactosamine459.7GPT, SLC17A5
4lactulose459.7SLC17A5, GPT
5adefovir459.7SLC17A5, GPT
6glycocholate459.7GPT, SLC17A5
7tenofovir45 50 1111.7SLC17A5, GPT
8glycyrrhizin45 2910.7GPT, SLC17A5
9nash459.6GPT, SLC17A5
10nevirapine45 50 1111.6SLC17A5, GPT
11sevoflurane45 1110.6SLC17A5, GPT
12lamivudine45 1110.6SLC17A5, F2
13isoniazid50 45 1111.6SLC17A5, GPT
14ezetimibe45 1110.4SLC17A5, GPT
15monoethylglycinexylidide459.4F2, GPT
16ximelagatran45 1110.4F2, GPT
17antipyrine45 1110.4SLC17A5, F2
18isoflurane45 1110.4GPT, SLC17A5
19flutamide45 60 1111.3GPT, SLC17A5
20levonorgestrel45 60 29 1112.3F2, SLC17A5
21amiodarone45 50 29 1112.3SLC17A5, F2
22clarithromycin45 1110.3GPT, F2
23ribavirin45 50 1111.2SLC17A5, AFP, GPT
24ccl445 2910.2SLC17A5, GPT, AFP
25vitamin b12459.2SLC17A5, GPT, AFP
26uric acid45 2410.2GPT, SLC17A5, AFP
27thyroxine45 2410.2AFP, SLC17A5, GPT
28rosuvastatin45 50 29 1112.0GPT, SLC17A5
29ethanol45 50 11 2412.0SLC17A5, AFP, GPT
30polyethylene glycol459.0SLC17A5, AFP, F2
31hepaplastin459.0SLC17A5, F2, GPT
32aminopyrine459.0GPT, SLC17A5, F2
33ursodeoxycholic acid45 11 2410.9SLC17A5, F2, GPT
34silymarin458.9SLC17A5, GPT, F2
35pge1458.9GPT, SLC17A5, F2
36epinephrine45 11 2410.9AFP, SLC17A5, F2
37hyaluronic acid45 249.9SLC17A5, GPT, F2
38potassium45 11 2410.8SLC17A5, GPT, AFP
39urea45 11 2410.8AFP, GPT, SLC25A13, SLC17A5
40n acetylcysteine458.8GPT, F2, SLC17A5
41glycogen45 249.7AFP, GPT, SLC17A5
42glutamate458.7AFP, SLC17A5, SLC25A13, GPT
43acetaminophen45 2 50 11 2412.4F2, SLC17A5, AFP, GPT
44simvastatin45 50 60 29 11 2413.4SLC17A5, GPT, AFP, F2
45methotrexate45 50 1110.4F2, SLC17A5, GPT, AFP
46fibrinogen458.4F2, SLC17A5, GPT, AFP
47lactate458.4SLC17A5, AFP, GPT, F2
48creatinine458.4AFP, GPT, F2, SLC17A5
49alanine458.3F2, AFP, SLC17A5, GPT
50aspartate458.0SLC25A13, SLC17A5, F2, AFP, GPT

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

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet