NICCD
MCID: CTR077
MIFTS: 25

Citrullinemia, Type Ii, Neonatal-Onset (NICCD) malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases

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

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

Name: Citrullinemia, Type Ii, Neonatal-Onset 54 13 69
Niccd 50 24 56 66
Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency 50 24 56
Citrin Deficiency 50 66 69
Cholestasis, Neonatal Intrahepatic, Caused by Citrin Deficiency 66 29
Neonatal-Onset Citrullinemia Type Ii 50 66
Neonatal-Onset Citrullinemia Type 2 50 66
Neonatal Intrahepatic Cholestasis Due to Citrin Deficiency 56
Adult-Onset Citrullinemia Type 2 69

Characteristics:

Orphanet epidemiological data:

56
neonatal intrahepatic cholestasis due to citrin deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

HPO:

32
citrullinemia, type ii, neonatal-onset:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Inborn errors of metabolism


External Ids:

OMIM 54 605814
Orphanet 56 ORPHA247598
ICD10 via Orphanet 34 E72.2
MedGen 40 C1853942
MeSH 42 D002780

Summaries for Citrullinemia, Type Ii, Neonatal-Onset

NIH Rare Diseases : 50 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 citrullinemia, adult-onset type ii, and has symptoms including failure to thrive, hypertriglyceridemia and growth delay. An important gene associated with Citrullinemia, Type Ii, Neonatal-Onset is SLC25A13 (Solute Carrier Family 25 Member 13). Affiliated tissues include liver.

OMIM : 54 Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is an autosomal recessive metabolic disorder... (605814) more...

UniProtKB/Swiss-Prot : 66 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

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:

id Related Disease Score Top Affiliating Genes
1 failure to thrive and dyslipidemia caused by citrin deficiency 12.0
2 citrullinemia, adult-onset type ii 11.3
3 cholestasis 10.8
4 intrahepatic cholestasis 10.8
5 hepatitis 10.2
6 liver disease 10.1

Graphical network of the top 20 diseases related to Citrullinemia, Type Ii, Neonatal-Onset:



Diseases related to Citrullinemia, Type Ii, Neonatal-Onset

Symptoms & Phenotypes for Citrullinemia, Type Ii, Neonatal-Onset

Symptoms by clinical synopsis from OMIM:

605814

Clinical features from OMIM:

605814

Human phenotypes related to Citrullinemia, Type Ii, Neonatal-Onset:

32 (show all 10)
id Description HPO Frequency HPO Source Accession
1 failure to thrive 32 HP:0001508
2 hypertriglyceridemia 32 HP:0002155
3 growth delay 32 HP:0001510
4 cirrhosis 32 HP:0001394
5 hypercholesterolemia 32 HP:0003124
6 hyperbilirubinemia 32 HP:0002904
7 intrahepatic cholestasis 32 HP:0001406
8 hypoalphalipoproteinemia 32 HP:0003233
9 hypermethioninemia 32 HP:0003235
10 elevated plasma citrulline 32 HP:0011966

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


reduced consciousness/confusion

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

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

Genetic Tests for Citrullinemia, Type Ii, Neonatal-Onset

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

id Genetic test Affiliating Genes
1 Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency 29 24

Anatomical Context for Citrullinemia, Type Ii, Neonatal-Onset

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

39
Liver

Publications for Citrullinemia, Type Ii, Neonatal-Onset

Variations for Citrullinemia, Type Ii, Neonatal-Onset

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

66
id Symbol AA change Variation ID SNP ID
1 SLC25A13 p.Glu601Lys VAR_016601 rs80338727

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

6 (show all 17)
id Gene Variation Type Significance SNP ID Assembly Location
1 SLC25A13 NM_014251.2(SLC25A13): c.1177+1G> A single nucleotide variant Pathogenic rs80338722 GRCh37 Chromosome 7, 95813588: 95813588
2 SLC25A13 NM_014251.2(SLC25A13): c.1799dupA (p.Tyr600Terfs) duplication Pathogenic rs80338726 GRCh37 Chromosome 7, 95751009: 95751009
3 SLC25A13 NM_014251.2(SLC25A13): c.1078C> T (p.Arg360Ter) single nucleotide variant Pathogenic rs80338721 GRCh37 Chromosome 7, 95813688: 95813688
4 SLC25A13 NM_014251.2(SLC25A13): c.1592G> A (p.Gly531Asp) single nucleotide variant Pathogenic rs80338724 GRCh37 Chromosome 7, 95751309: 95751309
5 SLC25A13 NM_014251.2(SLC25A13): c.15G> A (p.Lys5=) single nucleotide variant Pathogenic rs80338715 GRCh37 Chromosome 7, 95951254: 95951254
6 SLC25A13 NM_014251.2(SLC25A13): c.1750_1751[insNM_138459.3: 2672_24;1750+72_1751-4dup] insertion Pathogenic
7 SLC25A13 NM_014251.2(SLC25A13): c.1801G> A (p.Glu601Lys) single nucleotide variant Pathogenic rs80338727 GRCh37 Chromosome 7, 95751007: 95751007
8 SLC25A13 NM_014251.2(SLC25A13): c.1801G> T (p.Glu601Ter) single nucleotide variant Pathogenic rs80338727 GRCh37 Chromosome 7, 95751007: 95751007
9 SLC25A13 NM_014251.2(SLC25A13): c.1813C> T (p.Arg605Ter) single nucleotide variant Pathogenic rs80338729 GRCh37 Chromosome 7, 95750995: 95750995
10 SLC25A13 NM_014251.2(SLC25A13): c.550C> T (p.Arg184Ter) single nucleotide variant Pathogenic rs80338716 GRCh37 Chromosome 7, 95822414: 95822414
11 SLC25A13 NM_014251.2(SLC25A13): c.615+1G> C single nucleotide variant Pathogenic rs80338718 GRCh37 Chromosome 7, 95822348: 95822348
12 SLC25A13 NM_014251.2(SLC25A13): c.615+5G> A single nucleotide variant Pathogenic rs80338717 GRCh37 Chromosome 7, 95822344: 95822344
13 SLC25A13 NM_014251.2(SLC25A13): c.852_855delTATG (p.Met285Profs) deletion Pathogenic rs80338720 GRCh37 Chromosome 7, 95818684: 95818687
14 SLC25A13 NM_014251.2(SLC25A13): c.1505C> T (p.Pro502Leu) single nucleotide variant Likely pathogenic rs139149160 GRCh38 Chromosome 7, 96131829: 96131829
15 SLC25A13 NM_014251.2(SLC25A13): c.775C> T (p.Gln259Ter) single nucleotide variant Pathogenic rs746155190 GRCh38 Chromosome 7, 96189654: 96189654
16 SLC25A13 NM_014251.2(SLC25A13): c.495delA (p.Ala166Profs) deletion Pathogenic rs879255504 GRCh38 Chromosome 7, 96193157: 96193157
17 SLC25A13 NM_014251.2(SLC25A13): c.468+1G> C single nucleotide variant Likely pathogenic rs1060499612 GRCh37 Chromosome 7, 95838149: 95838149

Expression for Citrullinemia, Type Ii, Neonatal-Onset

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

Pathways for Citrullinemia, Type Ii, Neonatal-Onset

GO Terms for Citrullinemia, Type Ii, Neonatal-Onset

Sources for Citrullinemia, Type Ii, Neonatal-Onset

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