MCID: CTR142
MIFTS: 28

Citrullinemia, Adult-Onset Type Ii malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Citrullinemia, Adult-Onset Type Ii

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

Name: Citrullinemia, Adult-Onset Type Ii 50 12
Citrin Deficiency 22 46 23 68 25 66
Ctln2 46 23 52 68 48
Citrullinemia Type Ii 46 23 52 68
Adult-Onset Citrullinemia Type 2 46 68 66
Adult-Onset Type Ii Citrullinemia 23 52
 
Citrullinemia Type 2 46 52
Citrullinemia 2 68 25
Citrullinemia, Type Ii, Adult-Onset 50
Adult-Onset Citrullinemia Type Ii 46
Adult-Onset Type 2 Citrullinemia 52
Adult-Onset Citrin Deficiency 52

Characteristics:

Orphanet epidemiological data:

52
ctln2:
Inheritance: Autosomal recessive; Age of onset: Adult

HPO:

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


Classifications:



External Ids:

OMIM50 603471
Orphanet52 ORPHA247585
ICD10 via Orphanet29 E72.2
MedGen35 C1863844
MeSH37 D056806

Summaries for Citrullinemia, Adult-Onset Type Ii

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NIH Rare Diseases:46 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 failure to thrive and dyslipidemia caused by citrin deficiency and citrullinemia, type ii, neonatal-onset, and has symptoms including disturbance of consciousness, disturbance of consciousness and coma. An important gene associated with Citrullinemia, Adult-Onset Type Ii is SLC25A13 (Solute Carrier Family 25 Member 13). Affiliated tissues include liver and brain.

UniProtKB/Swiss-Prot:68 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.

OMIM:50 Adult-onset type II citrullinemia is an autosomal recessive metabolic disorder characterized clinically by the sudden... (603471) more...

GeneReviews summary for NBK1181

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:

idRelated DiseaseScoreTop Affiliating Genes
1failure to thrive and dyslipidemia caused by citrin deficiency12.1
2citrullinemia, type ii, neonatal-onset11.8
3cholestasis10.6
4intrahepatic cholestasis10.6
5hepatitis10.3
6citrullinemia10.0

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

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


disturbance of consciousness

Drugs & Therapeutics for Citrullinemia, Adult-Onset Type Ii

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Citrullinemia, Adult-Onset Type Ii

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 Deficiency25 23 SLC25A13
2 Citrullinemia Type Ii25 23 SLC25A13

Anatomical Context for Citrullinemia, Adult-Onset Type Ii

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

34
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.852_855delTATG (p.Met285Profs)deletionPathogenicrs80338720GRCh37Chr 7, 95818684: 95818687
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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Sources for Citrullinemia, Adult-Onset Type Ii

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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