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 51 12
Citrin Deficiency 23 47 24 69 26 67
Ctln2 47 24 53 69 49
Citrullinemia Type Ii 47 24 53 69
Adult-Onset Citrullinemia Type 2 47 69 67
Adult-Onset Type Ii Citrullinemia 24 53
 
Citrullinemia Type 2 47 53
Citrullinemia 2 69 26
Citrullinemia, Type Ii, Adult-Onset 51
Adult-Onset Citrullinemia Type Ii 47
Adult-Onset Type 2 Citrullinemia 53
Adult-Onset Citrin Deficiency 53

Characteristics:

Orphanet epidemiological data:

53
ctln2:
Inheritance: Autosomal recessive; Age of onset: Adult

HPO:

63
citrullinemia, adult-onset type ii:
Inheritance: autosomal recessive inheritance

GeneReviews:

23
Penetrance: the male-to-female ratio in niccd is roughly equal (73:80) [kobayashi & saheki 2004]...


Classifications:



External Ids:

OMIM51 603471
Orphanet53 ORPHA247585
ICD10 via Orphanet30 E72.2
MedGen36 C1863844
MeSH38 D056806

Summaries for Citrullinemia, Adult-Onset Type Ii

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NIH Rare Diseases:47 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 coma, confusion and hepatic steatosis. An important gene associated with Citrullinemia, Adult-Onset Type Ii is SLC25A13 (Solute Carrier Family 25 Member 13). Affiliated tissues include liver and brain.

OMIM:51 Adult-onset type II citrullinemia is an autosomal recessive metabolic disorder characterized clinically by the sudden... (603471) more...

UniProtKB/Swiss-Prot:69 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 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 deficiency12.0
2citrullinemia, type ii, neonatal-onset11.9
3cholestasis10.5
4intrahepatic cholestasis10.5
5hepatitis10.2
6citrullinemia10.2
7liver disease10.0
8autosomal genetic disease9.5ASS1, SLC25A13
9wagr syndrome9.5ASS1, SLC25A13
10leukemia, chronic lymphocytic 39.3ASS1, 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

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

 63 (show all 9)
id Description HPO Frequency HPO Source Accession
1 coma63 HP:0001259
2 confusion63 HP:0001289
3 hepatic steatosis63 HP:0001397
4 hepatocellular carcinoma63 HP:0001402
5 pancreatitis63 HP:0001733
6 hyperammonemia63 HP:0001987
7 hypertriglyceridemia63 HP:0002155
8 cerebral edema63 HP:0002181
9 elevated hepatic transaminases63 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 Deficiency26 24 SLC25A13
2 Citrullinemia Type Ii26 24 SLC25A13

Anatomical Context for Citrullinemia, Adult-Onset Type Ii

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

35
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> ASNVPathogenicrs80338722GRCh37Chr 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)SNVPathogenicrs80338719GRCh37Chr 7, 95820501: 95820501
5SLC25A13NM_014251.2(SLC25A13): c.1311+1G> ASNVPathogenicrs80338723GRCh37Chr 7, 95799356: 95799356
6SLC25A13NM_014251.2(SLC25A13): c.1799dupA (p.Tyr600Terfs)duplicationPathogenicrs80338726GRCh37Chr 7, 95751009: 95751009
7SLC25A13NM_014251.2(SLC25A13): c.1763G> A (p.Arg588Gln)SNVPathogenicrs121908532GRCh37Chr 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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet