MCID: CTR077
MIFTS: 26

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 50 12 66
Niccd 46 23 52 68
Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency 46 23 52
Citrin Deficiency 46 68 66
Cholestasis, Neonatal Intrahepatic, Caused by Citrin Deficiency 68 25
 
Neonatal-Onset Citrullinemia Type Ii 46 68
Neonatal-Onset Citrullinemia Type 2 46 68
Neonatal Intrahepatic Cholestasis Due to Citrin Deficiency 52
Adult-Onset Citrullinemia Type 2 66

Characteristics:

Orphanet epidemiological data:

52
niccd:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal

HPO:

62
citrullinemia, type ii, neonatal-onset:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 605814
Orphanet52 ORPHA247598
ICD10 via Orphanet29 E72.2
MedGen35 C1853942
MeSH37 D002780

Summaries for Citrullinemia, Type Ii, Neonatal-Onset

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NIH Rare Diseases:46 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 niccd, is related to failure to thrive and dyslipidemia caused by citrin deficiency and cholestasis, and has symptoms including disturbance of consciousness, cirrhosis and intrahepatic cholestasis. An important gene associated with Citrullinemia, Type Ii, Neonatal-Onset is SLC25A13 (Solute Carrier Family 25 Member 13). Affiliated tissues include liver.

UniProtKB/Swiss-Prot:68 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.

OMIM:50 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 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
1failure to thrive and dyslipidemia caused by citrin deficiency12.1
2cholestasis10.9
3intrahepatic cholestasis10.9
4citrullinemia, adult-onset type ii10.4
5hepatitis10.3
6liver disease10.2

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

UMLS symptoms related to Citrullinemia, Type Ii, Neonatal-Onset:


disturbance of consciousness

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 Deficiency25 23

Anatomical Context for Citrullinemia, Type Ii, Neonatal-Onset

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

34
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:

68
id Symbol AA change Variation ID SNP ID
1SLC25A13p.Glu601LysVAR_016601rs80338727

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

5 (show all 16)
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.852_855delTATG (p.Met285Profs)deletionPathogenicrs80338720GRCh37Chr 7, 95818684: 95818687
12SLC25A13NM_014251.2(SLC25A13): c.775C> T (p.Gln259Ter)single nucleotide variantPathogenicrs746155190GRCh38Chr 7, 96189654: 96189654
13SLC25A13NM_014251.2(SLC25A13): c.1505C> T (p.Pro502Leu)single nucleotide variantLikely pathogenicrs139149160GRCh38Chr 7, 96131829: 96131829
14SLC25A13NM_014251.2(SLC25A13): c.495delA (p.Ala166Profs)deletionPathogenicrs879255504GRCh38Chr 7, 96193157: 96193157
15SLC25A13NM_014251.2(SLC25A13): c.1177+1G> Asingle nucleotide variantPathogenicrs80338722GRCh37Chr 7, 95813588: 95813588
16SLC25A13NM_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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet