MCID: CTR142
MIFTS: 30

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:
46OMIM, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 44Novoseek, 48Orphanet, 22GTR, 61UMLS, 26ICD10 via Orphanet
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Aliases & Descriptions for Citrullinemia, Adult-Onset Type Ii:

Name: Citrullinemia, Adult-Onset Type Ii 46 9
Citrin Deficiency 19 42 20 22 61
Citrullinemia Type Ii 42 20 48 22
Adult-Onset Citrullinemia Type 2 42 48 61
Ctln2 42 44 48
 
Adult-Onset Citrin Deficiency 42 48
Citrullinemia Type 2 42 48
Citrullinemia 42 61
Citrullinemia, Type Ii, Adult-Onset 46
Adult-Onset Citrullinemia Type Ii 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
citrullinemia type ii:
Inheritance: Autosomal recessive; Age of onset: Adult


External Ids:

OMIM46 603471
Orphanet48 247585
ICD10 via Orphanet26 E72.2

Summaries for Citrullinemia, Adult-Onset Type Ii

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NIH Rare Diseases:42 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 cholestasis and intrahepatic 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:46 Adult-onset type II citrullinemia is an autosomal recessive metabolic disorder characterized clinically by the sudden... (603471) more...

GeneReviews summary for citrin

Related Diseases for Citrullinemia, Adult-Onset Type Ii

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Graphical network of the top 20 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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Drug clinical trials:

Search ClinicalTrials for Citrullinemia, Adult-Onset Type Ii

Search 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 Deficiency20 22 SLC25A13
2 Citrullinemia Type Ii20 22 SLC25A13

Anatomical Context for Citrullinemia, Adult-Onset Type Ii

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

31
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, 95751240: 95751241
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, 95751008: 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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Compounds 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
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet