MCID: CTR077
MIFTS: 24

Citrullinemia, Type Ii, Neonatal-Onset malady

Genetic diseases, Rare diseases categories

Aliases & Classifications for Citrullinemia, Type Ii, Neonatal-Onset

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Citrullinemia, Type Ii, Neonatal-Onset, Aliases & Descriptions:

Name: Citrullinemia, Type Ii, Neonatal-Onset 45 10 60
Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency 41 20 22
Citrin Deficiency 41 60
Neonatal-Onset Citrullinemia Type Ii 41
 
Neonatal-Onset Citrullinemia Type 2 41
Adult-Onset Citrullinemia Type 2 60
Niccd 41


Classifications:

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


External Ids:

OMIM45 605814

Summaries for Citrullinemia, Type Ii, Neonatal-Onset

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NIH Rare Diseases:41 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: Citrullinemia, Type Ii, Neonatal-Onset, also known as neonatal intrahepatic cholestasis caused by citrin deficiency, is related to intrahepatic cholestasis and cholestasis, and has symptoms including autosomal recessive inheritance, cirrhosis and intrahepatic cholestasis. An important gene associated with Citrullinemia, Type Ii, Neonatal-Onset is SLC25A13 (solute carrier family 25 (aspartate/glutamate carrier), member 13). Affiliated tissues include liver.

OMIM:45 Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is an autosomal recessive metabolic disorder... (605814) more...

Related Diseases for Citrullinemia, Type Ii, Neonatal-Onset

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Diseases related to Citrullinemia, Type Ii, Neonatal-Onset via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1intrahepatic cholestasis11.3
2cholestasis11.3
3hepatitis10.7
4citrullinemia, adult-onset type ii10.6
5liver disease10.6
6failure to thrive and dyslipidemia caused by citrin deficiency10.4
7citrullinemia10.4
8neonatal intrahepatic cholestasis due to citrin deficiency10.4
9galactosemia10.1
10fatty liver disease10.1
11hepatic encephalopathy10.1

Graphical network of diseases related to Citrullinemia, Type Ii, Neonatal-Onset:



Diseases related to citrullinemia, type ii, neonatal-onset

Symptoms for Citrullinemia, Type Ii, Neonatal-Onset

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Symptoms by clinical synopsis from OMIM:

605814

Clinical features from OMIM:

605814

HPO human phenotypes related to Citrullinemia, Type Ii, Neonatal-Onset:

(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 Citrullinemia, Type Ii, Neonatal-Onset

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Drug clinical trials:

Search ClinicalTrials for Citrullinemia, Type Ii, Neonatal-Onset

Search NIH Clinical Center for Citrullinemia, Type Ii, Neonatal-Onset

Genetic Tests for Citrullinemia, Type Ii, Neonatal-Onset

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Genetic tests related to Citrullinemia, Type Ii, Neonatal-Onset:

id Genetic test Affiliating Genes
1 Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency20 22

Anatomical Context for Citrullinemia, Type Ii, Neonatal-Onset

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MalaCards organs/tissues related to Citrullinemia, Type Ii, Neonatal-Onset:

31
Liver

Animal Models for Citrullinemia, Type Ii, Neonatal-Onset or affiliated genes

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Publications for Citrullinemia, Type Ii, Neonatal-Onset

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Variations for Citrullinemia, Type Ii, Neonatal-Onset

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UniProtKB/Swiss-Prot genetic disease variations for Citrullinemia, Type Ii, Neonatal-Onset:

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

Clinvar genetic disease variations for Citrullinemia, Type Ii, Neonatal-Onset:

6 (show all 13)
id Gene Variation 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 Citrullinemia, Type Ii, Neonatal-Onset

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Search GEO for disease gene expression data for Citrullinemia, Type Ii, Neonatal-Onset.

Pathways for genes affiliated with Citrullinemia, Type Ii, Neonatal-Onset

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Compounds for genes affiliated with Citrullinemia, Type Ii, Neonatal-Onset

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GO Terms for genes affiliated with Citrullinemia, Type Ii, Neonatal-Onset

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Products for genes affiliated with Citrullinemia, Type Ii, Neonatal-Onset

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Citrullinemia, Type Ii, Neonatal-Onset

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet