MCID: CTR077
MIFTS: 27

Citrullinemia, Type Ii, Neonatal-Onset malady

Genetic diseases, Rare diseases, Metabolic diseases categories

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


Classifications:



External Ids:

OMIM49 605814
MedGen34 C1853942
MeSH36 D002780

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 neonatal intrahepatic cholestasis caused by citrin deficiency, is related to cholestasis and intrahepatic 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: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:

(show all 13)
idRelated DiseaseScoreTop Affiliating Genes
1cholestasis10.9
2intrahepatic cholestasis10.9
3citrullinemia, adult-onset type ii10.6
4hepatitis10.6
5failure to thrive and dyslipidemia caused by citrin deficiency10.5
6citrullinemia10.4
7liver disease10.4
8neonatal intrahepatic cholestasis due to citrin deficiency10.4
9encephalopathy10.3
10galactosemia10.2
11fatty liver disease10.2
12hepatic encephalopathy10.2
13hyperammonemia10.2

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 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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Drugs for Citrullinemia, Type Ii, Neonatal-Onset (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Ornithineapproved, nutraceuticalPhase 2, Phase 13170-26-86262
Synonyms:
(+)-S-Ornithine
(S)-2,5-Diaminopentanoate
(S)-2,5-Diaminopentanoic acid
(S)-2,5-diaminovaleric acid
(S)-Ornithine
(S)-a,D-Diaminovalerate
 
(S)-a,D-Diaminovaleric acid
(S)-alpha,delta-Diaminovaleric acid
(S)-ornithine
(S)-α,δ-diaminovaleric acid
5-Amino-L-Norvaline
L-(-)-Ornithine
L-Ornithine
2
Nitric Oxideapproved54010102-43-9145068
Synonyms:
(.)NO
(NO)(.)
10102-43-9
14332-28-6
295566_ALDRICH
51005-20-0
51005-21-1
53851-19-7
90452-29-2
AC1L1ADQ
AC1L3QHF
AC1Q6QZ0
AR-1K7463
Bioxyde d'azote
Bioxyde d'azote [French]
C00533
CCRIS 4319
CHEMBL1200689
CHEMBL1234765
CID145068
CID945
D00074
D009569
DB00435
EDRF
EINECS 233-271-0
Endogenous Nitrate Vasodilator
Endothelium-Derived Nitric Oxide
HNO
HSDB 1246
INOmax
INOmax (TN)
Inomax
LS-192158
LS-7547
MolPort-003-929-452
Mononitrogen monoxide
Monoxide, Mononitrogen
Monoxide, Nitrogen
Monoxido de nitrogeno
Monoxyde d'azote
NITRIC-OXIDE
NO
NO(.)
Nitrate Vasodilator, Endogenous
Nitric Oxide, Endothelium Derived
 
Nitric Oxide, Endothelium-Derived
Nitric oxide
Nitric oxide (JAN)
Nitric oxide 10% by volume or more
Nitric oxide trimer
Nitric oxide, compressed [UN1660] [Poison gas]
Nitric oxide, compressed [UN1660] [Poison gas]
Nitrogen monoxide
Nitrogen oxide
Nitrogen oxide (NO)
Nitrogen protoxide
Nitrosyl
Nitrosyl hydride
Nitrosyl hydride ((NO)H)
Nitrosyl radical
Nitroxide radical
Nitroxyl
OHM 11771
Oxide, Nitric
Oxido de nitrogeno(ii)
Oxido nitrico
Oxyde azotique
Oxyde nitrique
Oxyde nitrique [French]
RCRA waste no. P076
Stickmonoxyd
Stickmonoxyd [German]
Stickstoff(II)-oxid
Stickstoff(ii)-oxid
Stickstoffmonoxid
UN 1660
UN1660
UNII-31C4KY9ESH
Vasodilator, Endogenous Nitrate
[NO]
endothelium-derived relaxing factor
monoxido de nitrogeno
monoxyde d'azote
nitric oxide
nitrogen monooxide
nitrogen monoxide
nitrosyl
oxido de nitrogeno(II)
oxido nitrico
oxidonitrogen(.)
oxoazanyl
oxyde azotique
3arginineNutraceutical346

Interventional clinical trials:

idNameStatusNCT IDPhase
1Human Heterologous Liver Cells for Infusion in Children With Urea Cycle DisordersCompletedNCT00718627Phase 2
2Pilot Study For Hypothermia Treatment In Hyperammonemic Encephalopathy In Neonates And Very Young InfantsCompletedNCT01624311Phase 2
3Urease Inhibitor Drug Treatment for Urea Cycle DisordersNot yet recruitingNCT02670889Phase 1, Phase 2
4Hepatocyte Transplantation for Liver Based Metabolic DisordersRecruitingNCT01345578Phase 1
5Nitric Oxide Flux and Ureagenesis in Argininosuccinate Synthetase Deficiency (ASSD)(Citrullinemia I)CompletedNCT01610089
6Microcirculation During Extracorporeal CirculationCompletedNCT01389947
7Citrulline Allo. Evaluation of Citrullinemia as a Marker of Bowel Damage After Allogeneic Bone Marrow Transplantation in ChildrenRecruitingNCT00751452
8The NIH UNI Study: Urea Cycle Disorders, Nutrition and ImmunityTerminatedNCT01421888

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 Deficiency22 24

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