MCID: CTR142
MIFTS: 31

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

Characteristics:

Orphanet epidemiological data:

51
ctln2:
Inheritance: Autosomal recessive; Age of onset: Adult

HPO:

61
citrullinemia, adult-onset type ii:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 603471
Orphanet51 247585
ICD10 via Orphanet28 E72.2
MedGen34 C1863844
MeSH36 D056806
UMLS65 C1863844, C1997910

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, type ii, neonatal-onset and failure to thrive and dyslipidemia caused by citrin deficiency, and has symptoms including elevated hepatic transaminases, cerebral edema and hypertriglyceridemia. An important gene associated with Citrullinemia, Adult-Onset Type Ii is SLC25A13 (Solute Carrier Family 25 Member 13). Affiliated tissues include liver, brain and breast.

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.

OMIM:49 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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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 elevated hepatic transaminases HP:0002910
2 cerebral edema HP:0002181
3 hypertriglyceridemia HP:0002155
4 hyperammonemia HP:0001987
5 pancreatitis HP:0001733
6 hepatocellular carcinoma HP:0001402
7 hepatic steatosis HP:0001397
8 confusion HP:0001289
9 coma HP:0001259

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 Deficiency22 SLC25A13
2 Citrullinemia Type Ii22 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, Breast, Prostate, Lung, Myeloid

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