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

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

Name: Citrullinemia, Adult-Onset Type Ii 52 12
Citrin Deficiency 23 48 24 70 27 68
Ctln2 48 24 54 70 50
Citrullinemia Type Ii 48 24 54 70
Adult-Onset Citrullinemia Type 2 48 70 68
Adult-Onset Type Ii Citrullinemia 24 54
 
Citrullinemia Type 2 48 54
Citrullinemia 2 70 27
Citrullinemia, Type Ii, Adult-Onset 52
Adult-Onset Citrullinemia Type Ii 48
Adult-Onset Type 2 Citrullinemia 54
Adult-Onset Citrin Deficiency 54

Characteristics:

Orphanet epidemiological data:

54
ctln2:
Inheritance: Autosomal recessive; Age of onset: Adult

HPO:

64
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:

OMIM52 603471
Orphanet54 ORPHA247585
ICD10 via Orphanet31 E72.2
MedGen37 C1863844
MeSH39 D056806

Summaries for Citrullinemia, Adult-Onset Type Ii

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NIH Rare Diseases:48 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 reduced consciousness/confusion, reduced consciousness/confusion 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.

OMIM:52 Adult-onset type II citrullinemia is an autosomal recessive metabolic disorder characterized clinically by the sudden... (603471) more...

UniProtKB/Swiss-Prot:70 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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Graphical network of diseases related to Citrullinemia, Adult-Onset Type Ii:



Diseases related to citrullinemia, adult-onset type ii

Symptoms & Phenotypes 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:

 64 (show all 9)
id Description HPO Frequency HPO Source Accession
1 coma64 HP:0001259
2 confusion64 HP:0001289
3 hepatic steatosis64 HP:0001397
4 hepatocellular carcinoma64 HP:0001402
5 pancreatitis64 HP:0001733
6 hyperammonemia64 HP:0001987
7 hypertriglyceridemia64 HP:0002155
8 cerebral edema64 HP:0002181
9 elevated hepatic transaminases64 HP:0002910

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


reduced consciousness/confusion

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 Deficiency27 24 SLC25A13
2 Citrullinemia Type Ii27 24 SLC25A13

Anatomical Context for Citrullinemia, Adult-Onset Type Ii

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

36
Liver, Brain

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.468+1G> CSNVLikely pathogenicrs1060499612GRCh37Chr 7, 95838149: 95838149
3SLC25A13NM_ 014251.2(SLC25A13): c.1177+1G> ASNVPathogenicrs80338722GRCh37Chr 7, 95813588: 95813588
4SLC25A13NM_ 014251.2(SLC25A13): c.1638_ 1660dup23 (p.Ala554Glyfs)duplicationPathogenicrs80338725GRCh37Chr 7, 95751241: 95751263
5SLC25A13NM_ 014251.2(SLC25A13): c.674C> A (p.Ser225Ter)SNVPathogenicrs80338719GRCh37Chr 7, 95820501: 95820501
6SLC25A13NM_ 014251.2(SLC25A13): c.1311+1G> ASNVPathogenicrs80338723GRCh37Chr 7, 95799356: 95799356
7SLC25A13NM_ 014251.2(SLC25A13): c.1799dupA (p.Tyr600Terfs)duplicationPathogenicrs80338726GRCh37Chr 7, 95751009: 95751009
8SLC25A13NM_ 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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Cellular components related to Citrullinemia, Adult-Onset Type Ii according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrionGO:00057399.1ASS1, SLC25A13

Sources for Citrullinemia, Adult-Onset Type Ii

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet