CTLN2
MCID: CTR142
MIFTS: 30

Citrullinemia, Adult-Onset Type Ii (CTLN2) malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Citrullinemia, Adult-Onset Type Ii

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

Name: Citrullinemia, Adult-Onset Type Ii 54 13
Citrin Deficiency 23 50 24 66 29 69
Ctln2 50 24 56 66 52
Citrullinemia Type Ii 50 24 56 66
Adult-Onset Citrullinemia Type 2 50 66 69
Adult-Onset Type Ii Citrullinemia 24 56
Citrullinemia Type 2 50 56
Citrullinemia 2 66 29
Citrullinemia, Type Ii, Adult-Onset 54
Adult-Onset Citrullinemia Type Ii 50
Adult-Onset Type 2 Citrullinemia 56
Adult-Onset Citrin Deficiency 56

Characteristics:

Orphanet epidemiological data:

56
citrullinemia type ii
Inheritance: Autosomal recessive; Age of onset: Adult;

GeneReviews:

23
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:

Orphanet: 56  
Inborn errors of metabolism


External Ids:

OMIM 54 603471
Orphanet 56 ORPHA247585
ICD10 via Orphanet 34 E72.2
MedGen 40 C1863844
MeSH 42 D056806

Summaries for Citrullinemia, Adult-Onset Type Ii

NIH Rare Diseases : 50 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 hypertriglyceridemia, hepatic steatosis and elevated hepatic transaminases. 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 : 54 Adult-onset type II citrullinemia is an autosomal recessive metabolic disorder characterized clinically by the sudden... (603471) more...

UniProtKB/Swiss-Prot : 66 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: NBK1181

Related Diseases for Citrullinemia, Adult-Onset Type Ii

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 17)
id Related Disease Score Top Affiliating Genes
1 failure to thrive and dyslipidemia caused by citrin deficiency 12.0
2 citrullinemia, type ii, neonatal-onset 11.9
3 cholestasis 10.5
4 intrahepatic cholestasis 10.5
5 hepatitis 10.2
6 citrullinemia 10.0
7 liver disease 10.0
8 encephalopathy 9.9
9 plasminogen activator inhibitor-1 deficiency 9.8 ASS1 SLC25A13
10 qazi markouizos syndrome 9.8 ASS1 SLC25A13
11 carnitine acetyltransferase deficiency 9.8 ASS1 SLC25A13
12 galactosemia 9.8
13 phenylketonuria 9.8
14 hepatic encephalopathy 9.8
15 fatty liver disease 9.8
16 hyperammonemia 9.8
17 waldenstrom macroglobulinemia 9.7 ASS1 SLC25A13

Graphical network of the top 20 diseases related to Citrullinemia, Adult-Onset Type Ii:



Diseases related to Citrullinemia, Adult-Onset Type Ii

Symptoms & Phenotypes for Citrullinemia, Adult-Onset Type Ii

Symptoms by clinical synopsis from OMIM:

603471

Clinical features from OMIM:

603471

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

32 (show all 9)
id Description HPO Frequency HPO Source Accession
1 hypertriglyceridemia 32 HP:0002155
2 hepatic steatosis 32 HP:0001397
3 elevated hepatic transaminases 32 HP:0002910
4 pancreatitis 32 HP:0001733
5 coma 32 HP:0001259
6 hyperammonemia 32 HP:0001987
7 cerebral edema 32 HP:0002181
8 confusion 32 HP:0001289
9 hepatocellular carcinoma 32 HP:0001402

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


reduced consciousness/confusion

Drugs & Therapeutics for Citrullinemia, Adult-Onset Type Ii

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

Genetic Tests for Citrullinemia, Adult-Onset Type Ii

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

id Genetic test Affiliating Genes
1 Citrin Deficiency 29 24 SLC25A13
2 Citrullinemia Type Ii 29 24 SLC25A13

Anatomical Context for Citrullinemia, Adult-Onset Type Ii

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

39
Liver, Brain

Publications for Citrullinemia, Adult-Onset Type Ii

Variations for Citrullinemia, Adult-Onset Type Ii

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 SLC25A13 NM_014251.2(SLC25A13): c.1177+1G> A single nucleotide variant Pathogenic rs80338722 GRCh37 Chromosome 7, 95813588: 95813588
2 SLC25A13 NM_014251.2(SLC25A13): c.1638_1660dup23 (p.Ala554Glyfs) duplication Pathogenic rs80338725 GRCh37 Chromosome 7, 95751241: 95751263
3 SLC25A13 NM_014251.2(SLC25A13): c.674C> A (p.Ser225Ter) single nucleotide variant Pathogenic rs80338719 GRCh37 Chromosome 7, 95820501: 95820501
4 SLC25A13 NM_014251.2(SLC25A13): c.1311+1G> A single nucleotide variant Pathogenic rs80338723 GRCh37 Chromosome 7, 95799356: 95799356
5 SLC25A13 NM_014251.2(SLC25A13): c.1799dupA (p.Tyr600Terfs) duplication Pathogenic rs80338726 GRCh37 Chromosome 7, 95751009: 95751009
6 SLC25A13 NM_014251.2(SLC25A13): c.1763G> A (p.Arg588Gln) single nucleotide variant Pathogenic rs121908532 GRCh37 Chromosome 7, 95751045: 95751045
7 SLC25A13 NM_014251.2(SLC25A13): c.852_855delTATG (p.Met285Profs) deletion Pathogenic rs80338720 GRCh37 Chromosome 7, 95818684: 95818687
8 SLC25A13 NM_014251.2(SLC25A13): c.468+1G> C single nucleotide variant Likely pathogenic rs1060499612 GRCh37 Chromosome 7, 95838149: 95838149

Expression for Citrullinemia, Adult-Onset Type Ii

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

Pathways for Citrullinemia, Adult-Onset Type Ii

GO Terms for Citrullinemia, Adult-Onset Type Ii

Cellular components related to Citrullinemia, Adult-Onset Type Ii according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 8.62 ASS1 SLC25A13

Sources for Citrullinemia, Adult-Onset Type Ii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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30 HGMD
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60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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