MCID: CTR077
MIFTS: 22

Citrullinemia, Type Ii, Neonatal-Onset malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases

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

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

Name: Citrullinemia, Type Ii, Neonatal-Onset 49 11 65
Citrin Deficiency 45 67 65
Niccd 45 22 67
Cholestasis, Neonatal Intrahepatic, Caused by Citrin Deficiency 67 24
 
Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency 45 22
Neonatal-Onset Citrullinemia Type Ii 45 67
Neonatal-Onset Citrullinemia Type 2 45 67
Adult-Onset Citrullinemia Type 2 65

Characteristics:

HPO:

61
citrullinemia, type ii, neonatal-onset:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 605814
MedGen34 C1853942
MeSH36 D002780
UMLS65 C1863844, C1997910, C1853942

Summaries for Citrullinemia, Type Ii, Neonatal-Onset

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NIH Rare Diseases:45 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 citrin deficiency, is related to neonatal intrahepatic cholestasis due to citrin deficiency, and has symptoms including elevated plasma citrulline, hypermethioninemia and hypoalphalipoproteinemia. An important gene associated with Citrullinemia, Type Ii, Neonatal-Onset is SLC25A13 (Solute Carrier Family 25 Member 13). Affiliated tissues include liver.

OMIM:49 Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is an autosomal recessive metabolic disorder... (605814) more...

UniProtKB/Swiss-Prot:67 Cholestasis, neonatal intrahepatic, caused by citrin deficiency: A form of citrullinemia type 2 with neonatal onset, characterized by suppression of the bile flow, hepatic fibrosis, low birth weight, growth retardation, hypoproteinemia, variable liver dysfunction. Neonatal intrahepatic cholestasis due to citrin deficiency is generally not severe and symptoms disappear by one year of age with an appropriate diet. Years or even decades later, however, some individuals develop the characteristic features of citrullinemia type 2 with neuropsychiatric symptoms.

Related Diseases for Citrullinemia, Type Ii, Neonatal-Onset

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Diseases in the Citrullinemia, Type Ii, Neonatal-Onset family:

Acute Neonatal Citrullinemia Type I

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

idRelated DiseaseScoreTop Affiliating Genes
1neonatal intrahepatic cholestasis due to citrin deficiency11.7

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

Drugs & Therapeutics for Citrullinemia, Type Ii, Neonatal-Onset

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Interventional clinical trials:

Search ClinicalTrials, 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 Deficiency22

Anatomical Context for Citrullinemia, Type Ii, Neonatal-Onset

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

33
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:

67
id Symbol AA change Variation ID SNP ID
1SLC25A13p.Glu601LysVAR_016601

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

5 (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(SLC25A13): c.1750_1751[insNM_138459.3: 2672_24;1750+72_1751-4dup]insertionPathogenic
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, 95751009: 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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GO Terms for genes affiliated with Citrullinemia, Type Ii, Neonatal-Onset

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Sources for Citrullinemia, Type Ii, Neonatal-Onset

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet