MCID: CTR142
MIFTS: 32

Citrullinemia, Adult-Onset Type Ii malady

Genetic diseases, Rare diseases, Metabolic diseases categories

Aliases & Classifications for Citrullinemia, Adult-Onset Type Ii

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Sources:
49OMIM, 11diseasecard, 65UMLS, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 24GTR, 67UniProtKB/Swiss-Prot, 51Orphanet, 47Novoseek, 28ICD10 via Orphanet, 34MedGen, 36MeSH
See all sources

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

Name: Citrullinemia, Adult-Onset Type Ii 49 11
Citrin Deficiency 21 45 22 24 65 67
Adult-Onset Citrullinemia Type 2 45 22 51 65 67
Citrullinemia Type Ii 45 22 51 24 67
Ctln2 45 22 47 51 67
 
Adult-Onset Citrullinemia Type Ii 45 51
Citrullinemia Type 2 45 51
Adult-Onset Citrin Deficiency 51
Citrullinemia 2 67
Citrullinemia 65


Classifications:



Characteristics (Orphanet epidemiological data):

51
adult-onset citrullinemia type 2:
Inheritance: Autosomal recessive; Age of onset: Adult


External Ids:

OMIM49 603471
Orphanet51 247585
ICD10 via Orphanet28 E72.2
MedGen34 C1863844
MeSH36 D056806

Summaries for Citrullinemia, Adult-Onset Type Ii

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NIH Rare Diseases:45 Adult-onset citrullinemia type ii is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. the condition chiefly affects the nervous system, causing confusion, restlessness, memory loss, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures, and coma. these signs and symptoms can be life-threatening. the signs and symptoms appear during adulthood and are triggered by certain medications, infections, surgery, and alcohol intake. the features of adult-onset type ii citrullinemia may also develop in people who as infants had a liver disorder called neonatal intrahepatic cholestasis caused by citrin deficiency (niccd). in many cases, the signs and symptoms of niccd resolve within a year. years or even decades later, however, some of these people develop the characteristic features of adult-onset type ii citrullinemia. adult-onset citrullinemia type ii 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, Adult-Onset Type Ii, also known as citrin deficiency, is related to citrullinemia and cholestasis, and has symptoms including autosomal recessive inheritance, coma and confusion. An important gene associated with Citrullinemia, Adult-Onset Type Ii is SLC25A13 (Solute Carrier Family 25 (Aspartate/Glutamate Carrier), Member 13). Affiliated tissues include liver and brain.

OMIM:49 Adult-onset type II citrullinemia is an autosomal recessive metabolic disorder characterized clinically by the sudden... (603471) more...

UniProtKB/Swiss-Prot:67 Citrullinemia 2: A form of citrullinemia, an autosomal recessive disease characterized primarily by elevated serum and urine citrulline levels. Ammonia intoxication is another manifestation. Citrullinemia type 2 is characterized by neuropsychiatric symptoms including abnormal behaviors, loss of memory, seizures and coma. Death can result from brain edema. Onset is sudden and usually between the ages of 20 and 50 years.

GeneReviews summary for citrin

Related Diseases for Citrullinemia, Adult-Onset Type Ii

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Diseases in the Citrullinemia family:

citrullinemia, adult-onset type ii Adult-Onset Citrullinemia Type I

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

(show all 15)
idRelated DiseaseScoreTop Affiliating Genes
1citrullinemia30.6ASS1, SLC25A13
2cholestasis10.9
3intrahepatic cholestasis10.9
4citrullinemia, type ii, neonatal-onset10.8
5hepatitis10.6
6failure to thrive and dyslipidemia caused by citrin deficiency10.5
7neonatal intrahepatic cholestasis due to citrin deficiency10.5
8liver disease10.4
9encephalopathy10.3
10galactosemia10.2
11fatty liver disease10.2
12hepatic encephalopathy10.2
13hyperammonemia10.2
14citrullinemia, adult-onset type ii9.8ASS1, SLC25A13
15vocal cord scarring9.7ASS1, SLC25A13

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



Diseases related to citrullinemia, adult-onset type ii

Symptoms for Citrullinemia, Adult-Onset Type Ii

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Symptoms by clinical synopsis from OMIM:

603471

Clinical features from OMIM:

603471

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

(show all 10)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 coma HP:0001259
3 confusion HP:0001289
4 hepatic steatosis HP:0001397
5 hepatocellular carcinoma HP:0001402
6 pancreatitis HP:0001733
7 hyperammonemia HP:0001987
8 hypertriglyceridemia HP:0002155
9 cerebral edema HP:0002181
10 elevated hepatic transaminases HP:0002910

Drugs & Therapeutics for Citrullinemia, Adult-Onset Type Ii

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Drugs for Citrullinemia, Adult-Onset Type Ii (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

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Genetic Tests for Citrullinemia, Adult-Onset Type Ii

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

id Genetic test Affiliating Genes
1 Citrin Deficiency22 24 SLC25A13
2 Citrullinemia Type Ii22 24 SLC25A13

Anatomical Context for Citrullinemia, Adult-Onset Type Ii

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

33
Liver, Brain

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

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Publications for Citrullinemia, Adult-Onset Type Ii

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Variations for Citrullinemia, Adult-Onset Type Ii

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1SLC25A13NM_014251.2(SLC25A13): c.851_854delGTAT (p.Met285Profs)deletionPathogenicrs80338720GRCh37Chr 7, 95818685: 95818688
2SLC25A13NM_014251.2(SLC25A13): c.1177+1G> Asingle nucleotide variantPathogenicrs80338722GRCh37Chr 7, 95813588: 95813588
3SLC25A13NM_014251.2(SLC25A13): c.1638_1660dup23 (p.Ala554Glyfs)duplicationPathogenicrs80338725GRCh37Chr 7, 95751241: 95751263
4SLC25A13NM_014251.2(SLC25A13): c.674C> A (p.Ser225Ter)single nucleotide variantPathogenicrs80338719GRCh37Chr 7, 95820501: 95820501
5SLC25A13NM_014251.2(SLC25A13): c.1311+1G> Asingle nucleotide variantPathogenicrs80338723GRCh37Chr 7, 95799356: 95799356
6SLC25A13NM_014251.2(SLC25A13): c.1799dupA (p.Tyr600Terfs)duplicationPathogenicrs80338726GRCh37Chr 7, 95751009: 95751009
7SLC25A13NM_014251.2(SLC25A13): c.1763G> A (p.Arg588Gln)single nucleotide variantPathogenicrs121908532GRCh37Chr 7, 95751045: 95751045

Expression for genes affiliated with Citrullinemia, Adult-Onset Type Ii

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

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

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

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Biological processes related to Citrullinemia, Adult-Onset Type Ii according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1small molecule metabolic processGO:00442819.1ASS1, SLC25A13

Sources for Citrullinemia, Adult-Onset Type Ii

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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