CTLN2
MCID: CTR177
MIFTS: 57

Citrullinemia, Type Ii, Adult-Onset (CTLN2)

Categories: Genetic diseases, Liver diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Citrullinemia, Type Ii, Adult-Onset

MalaCards integrated aliases for Citrullinemia, Type Ii, Adult-Onset:

Name: Citrullinemia, Type Ii, Adult-Onset 56
Citrin Deficiency 56 12 24 52 58 73 29 6 71
Citrullinemia Type Ii 52 58 73 29 6
Ctln2 56 52 58 73 54
Adult-Onset Citrullinemia Type 2 52 58 73 71
Citrullinemia, Adult-Onset Type Ii 56 13
Adult-Onset Type Ii Citrullinemia 12 15
Adult-Onset Citrullinemia Type Ii 52 58
Adult-Onset Citrin Deficiency 52 58
Citrullinemia Type 2 52 58
Adult-Onset Type Ii Citrullinemia, 52
Citrullinemia, Type Ii 39
Citrullinemia 2 73

Characteristics:

Orphanet epidemiological data:

58
citrullinemia type ii
Inheritance: Autosomal recessive; Age of onset: Adult;
citrin deficiency
Inheritance: Autosomal recessive; Age of onset: All ages;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
some patients may be asymptomatic
mean age of diagnosis is 40 years (range 11 to 79 years)
natural aversion to carbohydrates
favoring of fat and protein
increased frequency in individuals of asian descent
1 in 19,000 in japan
1 in 50,000 in korea
1 in 17,000 in china


HPO:

31
citrullinemia, type ii, adult-onset:
Inheritance autosomal recessive inheritance


GeneReviews:

24
Penetrance There appears to be a difference in penetrance of the ctln2 phenotype related to the sex of the individual....

Classifications:

Orphanet: 58  
Rare hepatic diseases
Inborn errors of metabolism


Summaries for Citrullinemia, Type Ii, Adult-Onset

NIH Rare Diseases : 52 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.

MalaCards based summary : Citrullinemia, Type Ii, Adult-Onset, also known as citrin deficiency, is related to galactosemia iii and hepatic encephalopathy. An important gene associated with Citrullinemia, Type Ii, Adult-Onset is SLC25A13 (Solute Carrier Family 25 Member 13), and among its related pathways/superpathways are Metabolism and Viral mRNA Translation. The drugs carbamide peroxide and Liver Extracts have been mentioned in the context of this disorder. Affiliated tissues include liver, brain and testes, and related phenotypes are hepatic steatosis and acute hyperammonemia

Disease Ontology : 12 A citrullinemia that has material basis in homozygous or compound heterozygous mutation in the SLC25A13 gene on chromosome 7q21.

OMIM : 56 Adult-onset type II citrullinemia is an autosomal recessive metabolic disorder characterized clinically by the sudden onset of various neuropsychologic symptoms such as disorientation, abnormal behavior, convulsions, and coma due to hyperammonemia. In some cases, rapid progression can lead to brain edema and death if liver transplantation is not possible. Some patients may present with nonalcoholic hepatic steatosis or may develop hepatic fibrosis or hepatocellular carcinoma. Patients with this disorder have a natural aversion to carbohydrates and favor protein, which is in contrast to protein aversion usually observed in patients with urea cycle defects (summary by Komatsu et al., 2008). (603471)

UniProtKB/Swiss-Prot : 73 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, Type Ii, Adult-Onset

Diseases in the Citrullinemia, Type Ii, Adult-Onset family:

Adult-Onset Citrullinemia Type I

Diseases related to Citrullinemia, Type Ii, Adult-Onset via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 94)
# Related Disease Score Top Affiliating Genes
1 galactosemia iii 30.4 SLC25A13 GALE
2 hepatic encephalopathy 30.3 SLC25A13 ASS1 AFP
3 tyrosinemia 30.1 SLC25A13 OTC AFP
4 hypermethioninemia 29.8 SLC25A13 AHCY
5 carbonic anhydrase va deficiency, hyperammonemia due to 29.3 SLC25A15 SLC25A13 OTC NAGS CPS1 ASS1
6 argininosuccinic aciduria 28.6 SLC25A15 SLC25A13 OTC NAGS CPS1 ASS1
7 tyrosinemia, type i 28.4 OTC NAGS ASL AHCY AFP
8 glycogen storage disease 28.3 OTC AHCY AFP
9 urea cycle disorder 28.0 SLC25A2 SLC25A15 SLC25A13 SLC25A12 OTC NAGS
10 citrullinemia, classic 26.4 SPINK1 SLC25A37 SLC25A2 SLC25A15 SLC25A13 SLC25A12
11 cholestasis, intrahepatic, of pregnancy, 1 10.7
12 biliary atresia 10.5
13 liver disease 10.5
14 galactosemia i 10.4
15 bilirubin metabolic disorder 10.3
16 encephalopathy 10.3
17 non-alcoholic steatohepatitis 10.3
18 pancreatitis 10.3
19 fatty liver disease, nonalcoholic 1 10.3
20 citrullinemia, type ii, neonatal-onset 10.2
21 hepatic coma 10.2
22 cholestasis 10.2
23 hepatocellular carcinoma 10.2
24 neonatal jaundice 10.2
25 subacute delirium 10.2
26 schizophrenia 10.2
27 down syndrome 10.2
28 microvascular complications of diabetes 3 10.2
29 microvascular complications of diabetes 4 10.2
30 microvascular complications of diabetes 6 10.2
31 microvascular complications of diabetes 7 10.2
32 gastric cancer 10.2
33 polycystic kidney disease 10.2
34 polyneuropathy 10.2
35 temporal lobe epilepsy 10.2
36 somatostatinoma 10.2
37 duodenal somatostatinoma 10.2
38 end stage renal disease 10.2
39 47,xyy 10.2
40 spastic paraparesis 10.2
41 syncope 10.2
42 ocular motor apraxia 10.1
43 phenylketonuria 10.1
44 abdominal obesity-metabolic syndrome 1 10.1
45 non-alcoholic fatty liver disease 10.1
46 syphilis 10.1
47 hemolytic anemia 10.1
48 inherited metabolic disorder 10.1
49 hyperphenylalaninemia 10.1
50 tremor 10.1

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



Diseases related to Citrullinemia, Type Ii, Adult-Onset

Symptoms & Phenotypes for Citrullinemia, Type Ii, Adult-Onset

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

58 31 (show all 48)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hepatic steatosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001397
2 acute hyperammonemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008281
3 elevated plasma citrulline 58 31 hallmark (90%) Very frequent (99-80%) HP:0011966
4 decreased body mass index 58 31 hallmark (90%) Very frequent (99-80%) HP:0045082
5 hepatomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002240
6 hallucinations 58 31 frequent (33%) Frequent (79-30%) HP:0000738
7 hypertriglyceridemia 58 31 frequent (33%) Frequent (79-30%) HP:0002155
8 irritability 58 31 frequent (33%) Frequent (79-30%) HP:0000737
9 tremor 58 31 frequent (33%) Frequent (79-30%) HP:0001337
10 memory impairment 58 31 frequent (33%) Frequent (79-30%) HP:0002354
11 elevated hepatic transaminase 58 31 frequent (33%) Frequent (79-30%) HP:0002910
12 lethargy 58 31 frequent (33%) Frequent (79-30%) HP:0001254
13 hypoalbuminemia 58 31 frequent (33%) Frequent (79-30%) HP:0003073
14 restlessness 58 31 frequent (33%) Frequent (79-30%) HP:0000711
15 aggressive behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000718
16 hypoproteinemia 58 31 frequent (33%) Frequent (79-30%) HP:0003075
17 drowsiness 58 31 frequent (33%) Frequent (79-30%) HP:0002329
18 night sweats 58 31 frequent (33%) Frequent (79-30%) HP:0030166
19 abnormal eating behavior 58 31 frequent (33%) Frequent (79-30%) HP:0100738
20 fluctuations in consciousness 58 31 frequent (33%) Frequent (79-30%) HP:0007159
21 delusions 58 31 frequent (33%) Frequent (79-30%) HP:0000746
22 delirium 58 31 frequent (33%) Frequent (79-30%) HP:0031258
23 asterixis 58 31 frequent (33%) Frequent (79-30%) HP:0012164
24 sleep terror 58 31 frequent (33%) Frequent (79-30%) HP:0030765
25 seizure 31 frequent (33%) HP:0001250
26 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
27 vomiting 58 31 occasional (7.5%) Occasional (29-5%) HP:0002013
28 hepatic fibrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001395
29 hypercholesterolemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003124
30 insomnia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100785
31 psychosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000709
32 decreased hdl cholesterol concentration 58 31 occasional (7.5%) Occasional (29-5%) HP:0003233
33 diarrhea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002014
34 hyperactivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000752
35 pancreatitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001733
36 coma 58 31 occasional (7.5%) Occasional (29-5%) HP:0001259
37 echolalia 58 31 occasional (7.5%) Occasional (29-5%) HP:0010529
38 enuresis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000805
39 hepatocellular carcinoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0001402
40 cerebral edema 58 31 occasional (7.5%) Occasional (29-5%) HP:0002181
41 delayed menarche 58 31 occasional (7.5%) Occasional (29-5%) HP:0012569
42 hepatic encephalopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002480
43 mania 58 31 occasional (7.5%) Occasional (29-5%) HP:0100754
44 confusion 58 31 Frequent (79-30%) HP:0001289
45 seizures 58 Frequent (79-30%)
46 sleep disturbance 58 Frequent (79-30%)
47 hyperlipidemia 58 Frequent (79-30%)
48 hyperammonemia 31 HP:0001987

Symptoms via clinical synopsis from OMIM:

56
Abdomen Liver:
hepatic steatosis
fibrosis
nonalcoholic fatty liver disease
hepatocyte ballooning

Abdomen Pancreas:
pancreatitis

Neoplasia:
hepatocellular carcinoma

Laboratory Abnormalities:
hyperammonemia
increased serum triglycerides
abnormal liver enzymes
citrullinemia
low serum albumin
more
Neurologic Central Nervous System:
confusion
coma
disorientation
sudden onset of neuropsychiatric symptoms
disturbance of consciousness
more

Clinical features from OMIM:

603471

GenomeRNAi Phenotypes related to Citrullinemia, Type Ii, Adult-Onset according to GeneCards Suite gene sharing:

26 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-117 9.62 AFP
2 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.62 SLC25A15
3 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.62 SLC25A15
4 Increased shRNA abundance (Z-score > 2) GR00366-A-192 9.62 AFP
5 Increased shRNA abundance (Z-score > 2) GR00366-A-211 9.62 SLC25A15
6 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.62 SPINK1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.62 SLC25A15
8 Increased shRNA abundance (Z-score > 2) GR00366-A-48 9.62 AFP SLC25A22
9 Increased shRNA abundance (Z-score > 2) GR00366-A-62 9.62 SLC25A15
10 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.62 SPINK1 SLC25A15
11 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.62 SLC25A22
12 Increased shRNA abundance (Z-score > 2) GR00366-A-89 9.62 AFP
13 Increased shRNA abundance (Z-score > 2) GR00366-A-96 9.62 SLC25A22

MGI Mouse Phenotypes related to Citrullinemia, Type Ii, Adult-Onset:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.65 AFP ASL ASS1 CPS1 NAGS OTC
2 mortality/aging MP:0010768 9.4 AFP AHCY ASL ASS1 CPS1 NAGS

Drugs & Therapeutics for Citrullinemia, Type Ii, Adult-Onset

Drugs for Citrullinemia, Type Ii, Adult-Onset (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
carbamide peroxide Approved 124-43-6
2 Liver Extracts

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Prospective Cross-Sectional Non-invasive Assessment of Chronic Liver Disease in Urea Cycle Disorders Recruiting NCT03721367

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

Genetic Tests for Citrullinemia, Type Ii, Adult-Onset

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

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

Anatomical Context for Citrullinemia, Type Ii, Adult-Onset

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

40
Liver, Brain, Testes

Publications for Citrullinemia, Type Ii, Adult-Onset

Articles related to Citrullinemia, Type Ii, Adult-Onset:

(show top 50) (show all 232)
# Title Authors PMID Year
1
Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia. 24 56 6 54
11153906 2000
2
The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein. 56 54 24 6
10369257 1999
3
An adult with type 2 citrullinemia presenting in Europe. 6 56 24
18367750 2008
4
Citrin deficiency as a cause of chronic liver disorder mimicking non-alcoholic fatty liver disease. 61 56 24 54
18620775 2008
5
Citrin/mitochondrial glycerol-3-phosphate dehydrogenase double knock-out mice recapitulate features of human citrin deficiency. 61 56 54 24
17591776 2007
6
Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency. 56 54 24 61
16059747 2005
7
Neonatal intrahepatic cholestasis caused by citrin deficiency: severe hepatic dysfunction in an infant requiring liver transplantation. 54 24 61 6
12424587 2002
8
Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: Identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations. 56 54 24 61
11793471 2002
9
Citrin deficiency and current treatment concepts. 24 61 56
20233664 2010
10
Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD). 56 24 61
12111366 2002
11
Possible clinical and histologic manifestations of adult-onset type II citrullinemia in early infancy. 24 6
11343053 2001
12
[Failure to thrive and dyslipidemia caused by citrin deficiency: a novel clinical phenotype]. 54 24 61
19470249 2009
13
Primary liver carcinoma exhibiting dual hepatocellular-biliary epithelial differentiations associated with citrin deficiency: a case report. 54 61 24
18385606 2008
14
Reduced carbohydrate intake in citrin-deficient subjects. 24 61 54
18415701 2008
15
Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency. 54 61 24
18392553 2008
16
Neonatal intrahepatic cholestasis caused by citrin deficiency in Korean infants. 61 24 54
18162705 2007
17
Six cases of citrin deficiency in Korea. 61 24 54
17982687 2007
18
Novel diagnostic approach to citrin deficiency: analysis of citrin protein in lymphocytes. 61 24 54
17092749 2007
19
Homozygous SLC25A13 mutation in a Taiwanese patient with adult-onset citrullinemia complicated with steatosis and hepatocellular carcinoma. 61 54 24
17000460 2006
20
Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiency. 61 54 24
16736097 2006
21
Variant clinical courses of 2 patients with neonatal intrahepatic cholestasis who have a novel mutation of SLC25A13. 24 61 54
16311094 2005
22
Citrin Deficiency 61 6
20301360 2005
23
Risk of worsened encephalopathy after intravenous glycerol therapy in patients with adult-onset type II citrullinemia (CTLN2). 61 24 54
15805705 2005
24
Effects of citrin deficiency in the perinatal period: feasibility of newborn mass screening for citrin deficiency. 54 24 61
15295082 2004
25
Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle. 24 61 54
15050970 2004
26
Infantile cholestatic jaundice associated with adult-onset type II citrullinemia. 54 6
11343052 2001
27
Neonatal presentation of adult-onset type II citrullinemia. 6 54
11281457 2001
28
Molecular diagnosis of citrin deficiency in an infant with intrahepatic cholestasis: identification of a 21.7kb gross deletion that completely silences the transcriptional and translational expression of the affected SLC25A13 allele. 61 24
29152073 2017
29
Circulating tricarboxylic acid cycle metabolite levels in citrin-deficient children with metabolic adaptation, with and without sodium pyruvate treatment. 61 24
28041819 2017
30
Biochemical and molecular characteristics of citrin deficiency in Korean children. 61 24
27829683 2017
31
SLC25A13 cDNA cloning analysis using peripheral blood lymphocytes facilitates the identification of a large deletion mutation: Molecular diagnosis of an infant with neonatal intrahepatic cholestasis caused by citrin deficiency. 24 61
27779681 2016
32
Molecular diagnosis of pediatric patients with citrin deficiency in China: SLC25A13 mutation spectrum and the geographic distribution. 24 61
27405544 2016
33
Identification of a Large SLC25A13 Deletion via Sophisticated Molecular Analyses Using Peripheral Blood Lymphocytes in an Infant with Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (NICCD): A Clinical and Molecular Study. 24 61
27127784 2016
34
Novel mutations in the SLC25A13 gene in a patient with NICCD and severe manifestations. 61 24
25381944 2015
35
Citrin deficiency: A treatable cause of acute psychosis in adults. 61 24
25947987 2015
36
Inspissated bile syndrome in an infant with citrin deficiency and congenital anomalies of the biliary tract and esophagus: identification and pathogenicity analysis of a novel SLC25A13 mutation with incomplete penetrance. 61 24
25216257 2014
37
A longitudinal study of urea cycle disorders. 56
25135652 2014
38
Screening for five prevalent mutations of SLC25A13 gene in Guangdong, China: a molecular epidemiologic survey of citrin deficiency. 24 61
25110155 2014
39
Clinical, molecular and functional investigation on an infant with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). 61 24
24586645 2014
40
Medium-chain triglyceride supplementation under a low-carbohydrate formula is a promising therapy for adult-onset type II citrullinemia. 24 61
27896073 2014
41
[Clinical investigation and mutation analysis of a child with citrin deficiency complicated with purpura, convulsive seizures and methioninemia]. 24 61
24327139 2013
42
[A case of neonatal intrahepatic cholestasis caused by citrin deficiency complicated with congenital biliary atresia]. 24 61
24484564 2013
43
Fatigue and quality of life in citrin deficiency during adaptation and compensation stage. 61 24
23453692 2013
44
SLC25A13 gene analysis in citrin deficiency: sixteen novel mutations in East Asian patients, and the mutation distribution in a large pediatric cohort in China. 61 24
24069319 2013
45
Multiple ovarian antral follicles in a preterm infant with neonatal intrahepatic cholestasis caused by citrin deficiency: a clinical, genetic and transcriptional analysis. 24 61
22710133 2012
46
An elderly Japanese patient with adult-onset type II citrullinemia with a novel D493G mutation in the SLC25A13 gene. 61 24
22892490 2012
47
Treatment with lactose (galactose)-restricted and medium-chain triglyceride-supplemented formula for neonatal intrahepatic cholestasis caused by citrin deficiency. 61 24
23430852 2012
48
Genotypic and phenotypic features of citrin deficiency: five-year experience in a Chinese pediatric center. 24 61
21424115 2011
49
Analysis of inborn errors of metabolism: disease spectrum for expanded newborn screening in Hong Kong. 24 61
21542954 2011
50
The mutation spectrum of the SLC25A13 gene in Chinese infants with intrahepatic cholestasis and aminoacidemia. 24 61
20927635 2011

Variations for Citrullinemia, Type Ii, Adult-Onset

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

6 (show top 50) (show all 120) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC25A13 NM_014251.3(SLC25A13):c.1712del (p.Arg571fs)deletion Pathogenic 469032 rs1554335461 7:95751189-95751189 7:96121877-96121877
2 SLC25A13 NM_014251.3(SLC25A13):c.1762C>T (p.Arg588Ter)SNV Pathogenic 664925 7:95751046-95751046 7:96121734-96121734
3 SLC25A13 NM_014251.3(SLC25A13):c.1375del (p.Ala459fs)deletion Pathogenic 638891 7:95775945-95775945 7:96146633-96146633
4 SLC25A13 NM_014251.3(SLC25A13):c.978_979AG[1] (p.Glu327fs)short repeat Pathogenic 643067 7:95814276-95814277 7:96184964-96184965
5 SLC25A13 NC_000007.14:g.(?_96191099)_(96193193_?)deldeletion Pathogenic 831578 7:95820411-95822505
6 SLC25A13 NC_000007.14:g.(?_96234792)_(96234927_?)deldeletion Pathogenic 830502 7:95864104-95864239
7 SLC25A13 NM_014251.3(SLC25A13):c.1196T>A (p.Leu399Ter)SNV Pathogenic 860951 7:95800818-95800818 7:96171506-96171506
8 SLC25A13 NM_014251.3(SLC25A13):c.571del (p.Arg191fs)deletion Pathogenic 838520 7:95822393-95822393 7:96193081-96193081
9 SLC25A13 NM_014251.3(SLC25A13):c.848+3A>CSNV Pathogenic 850379 7:95818890-95818890 7:96189578-96189578
10 SLC25A13 NM_014251.3(SLC25A13):c.1177+1G>ASNV Pathogenic 6002 rs80338722 7:95813588-95813588 7:96184276-96184276
11 SLC25A13 NM_014251.3(SLC25A13):c.1638_1660dup (p.Ala554fs)duplication Pathogenic 6003 rs80338725 7:95751240-95751241 7:96121928-96121929
12 SLC25A13 NM_014251.3(SLC25A13):c.674C>A (p.Ser225Ter)SNV Pathogenic 6004 rs80338719 7:95820501-95820501 7:96191189-96191189
13 SLC25A13 NM_014251.3(SLC25A13):c.1311+1G>ASNV Pathogenic 6005 rs80338723 7:95799356-95799356 7:96170044-96170044
14 SLC25A13 NM_014251.3(SLC25A13):c.1799dup (p.Tyr600Ter)duplication Pathogenic 6006 rs80338726 7:95751008-95751009 7:96121696-96121697
15 SLC25A13 NM_014251.3(SLC25A13):c.550C>T (p.Arg184Ter)SNV Pathogenic 21515 rs80338716 7:95822414-95822414 7:96193102-96193102
16 SLC25A13 NM_014251.3(SLC25A13):c.615+5G>ASNV Pathogenic 21517 rs80338717 7:95822344-95822344 7:96193032-96193032
17 SLC25A13 NM_014251.3(SLC25A13):c.1078C>T (p.Arg360Ter)SNV Pathogenic 21508 rs80338721 7:95813688-95813688 7:96184376-96184376
18 SLC25A13 NM_014251.3(SLC25A13):c.852_855del (p.Met285fs)deletion Pathogenic 225472 rs80338720 7:95818684-95818687 7:96189372-96189375
19 SLC25A13 NM_014251.3(SLC25A13):c.955C>T (p.Arg319Ter)SNV Pathogenic 372748 rs763191789 7:95814302-95814302 7:96184990-96184990
20 SLC25A13 NM_014251.3(SLC25A13):c.848+1G>TSNV Pathogenic/Likely pathogenic 802338 7:95818892-95818892 7:96189580-96189580
21 SLC25A13 NM_014251.3(SLC25A13):c.1048G>A (p.Asp350Asn)SNV Likely pathogenic 855835 7:95813718-95813718 7:96184406-96184406
22 SLC25A13 NM_014251.3(SLC25A13):c.468+1G>CSNV Likely pathogenic 417947 rs1060499612 7:95838149-95838149 7:96208837-96208837
23 SLC25A13 NM_014251.3(SLC25A13):c.1801G>A (p.Glu601Lys)SNV Likely pathogenic 21512 rs80338727 7:95751007-95751007 7:96121695-96121695
24 SLC25A13 NM_014251.3(SLC25A13):c.328+1G>TSNV Likely pathogenic 839429 7:95864113-95864113 7:96234801-96234801
25 SLC25A13 NM_014251.3(SLC25A13):c.1453-1G>ASNV Likely pathogenic 850244 7:95761194-95761194 7:96131882-96131882
26 SLC25A13 NM_014251.3(SLC25A13):c.6G>T (p.Ala2=)SNV Conflicting interpretations of pathogenicity 361027 rs774562949 7:95951263-95951263 7:96321951-96321951
27 SLC25A13 NM_014251.3(SLC25A13):c.1230A>C (p.Thr410=)SNV Conflicting interpretations of pathogenicity 361020 rs150021522 7:95800784-95800784 7:96171472-96171472
28 SLC25A13 NM_014251.3(SLC25A13):c.*792C>TSNV Conflicting interpretations of pathogenicity 361000 rs574119069 7:95749711-95749711 7:96120399-96120399
29 SLC25A13 NM_014251.3(SLC25A13):c.1088G>T (p.Gly363Val)SNV Conflicting interpretations of pathogenicity 361022 rs35996658 7:95813678-95813678 7:96184366-96184366
30 SLC25A13 NM_014251.3(SLC25A13):c.*570G>ASNV Conflicting interpretations of pathogenicity 361002 rs147716687 7:95749933-95749933 7:96120621-96120621
31 SLC25A13 NM_014251.3(SLC25A13):c.1275G>A (p.Ser425=)SNV Conflicting interpretations of pathogenicity 361018 rs376416252 7:95799393-95799393 7:96170081-96170081
32 SLC25A13 NM_014251.3(SLC25A13):c.882T>C (p.Ala294=)SNV Conflicting interpretations of pathogenicity 287001 rs138094550 7:95818657-95818657 7:96189345-96189345
33 SLC25A13 NM_014251.3(SLC25A13):c.1680C>T (p.Ser560=)SNV Conflicting interpretations of pathogenicity 290076 rs150082469 7:95751221-95751221 7:96121909-96121909
34 SLC25A13 NM_014251.3(SLC25A13):c.1506G>A (p.Pro502=)SNV Conflicting interpretations of pathogenicity 290112 rs144494809 7:95761140-95761140 7:96131828-96131828
35 SLC25A13 NM_014251.3(SLC25A13):c.1311+3A>GSNV Conflicting interpretations of pathogenicity 361017 rs180844972 7:95799354-95799354 7:96170042-96170042
36 SLC25A13 NM_014251.3(SLC25A13):c.1236C>T (p.Asn412=)SNV Conflicting interpretations of pathogenicity 385583 rs747257110 7:95799432-95799432 7:96170120-96170120
37 SLC25A13 NM_014251.3(SLC25A13):c.848+9G>TSNV Conflicting interpretations of pathogenicity 384766 rs201395793 7:95818884-95818884 7:96189572-96189572
38 SLC25A13 NM_014251.3(SLC25A13):c.1434G>T (p.Gly478=)SNV Conflicting interpretations of pathogenicity 194403 rs146111714 7:95775886-95775886 7:96146574-96146574
39 SLC25A13 NM_014251.3(SLC25A13):c.1910T>C (p.Val637Ala)SNV Conflicting interpretations of pathogenicity 203938 rs148962110 7:95750621-95750621 7:96121309-96121309
40 SLC25A13 NM_014251.3(SLC25A13):c.1063C>T (p.Arg355Ter)SNV Conflicting interpretations of pathogenicity 449394 rs758827458 7:95813703-95813703 7:96184391-96184391
41 SLC25A13 NM_014251.3(SLC25A13):c.408A>G (p.Leu136=)SNV Conflicting interpretations of pathogenicity 703307 7:95838210-95838210 7:96208898-96208898
42 SLC25A13 NM_014251.3(SLC25A13):c.666A>C (p.Gly222=)SNV Conflicting interpretations of pathogenicity 751781 7:95820509-95820509 7:96191197-96191197
43 SLC25A13 NM_014251.3(SLC25A13):c.1354G>A (p.Val452Ile)SNV Conflicting interpretations of pathogenicity 596092 rs143877538 7:95775966-95775966 7:96146654-96146654
44 SLC25A13 NM_014251.3(SLC25A13):c.960A>G (p.Pro320=)SNV Conflicting interpretations of pathogenicity 499617 rs765358773 7:95814297-95814297 7:96184985-96184985
45 SLC25A13 NM_014251.3(SLC25A13):c.756G>A (p.Glu252=)SNV Conflicting interpretations of pathogenicity 501535 rs141152495 7:95818985-95818985 7:96189673-96189673
46 SLC25A13 NM_014251.3(SLC25A13):c.1665C>T (p.Gly555=)SNV Conflicting interpretations of pathogenicity 501938 rs199735534 7:95751236-95751236 7:96121924-96121924
47 SLC25A13 NM_014251.3(SLC25A13):c.571C>T (p.Arg191Cys)SNV Uncertain significance 501946 rs199744651 7:95822393-95822393 7:96193081-96193081
48 SLC25A13 NM_014251.3(SLC25A13):c.614C>T (p.Ala205Val)SNV Uncertain significance 583136 rs1562831497 7:95822350-95822350 7:96193038-96193038
49 SLC25A13 NM_014251.3(SLC25A13):c.158C>T (p.Pro53Leu)SNV Uncertain significance 581785 rs753950441 7:95906562-95906562 7:96277250-96277250
50 SLC25A13 NM_014251.3(SLC25A13):c.1267G>A (p.Asp423Asn)SNV Uncertain significance 587600 rs553863381 7:95799401-95799401 7:96170089-96170089

Expression for Citrullinemia, Type Ii, Adult-Onset

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

Pathways for Citrullinemia, Type Ii, Adult-Onset

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.69 SLC25A37 SLC25A2 SLC25A15 SLC25A13 SLC25A12 OTC
2
Show member pathways
13.41 SLC25A2 SLC25A15 OTC NAGS CPS1 ASS1
3
Show member pathways
11.88 OTC NAGS CPS1 ASS1 ASL
4 11.5 OTC CPS1 ASS1
5 11.05 CPS1 ASS1 ASL
6
Show member pathways
10.77 OTC NAGS CPS1 ASS1 ASL
7
Show member pathways
10.55 ASS1 ASL
8
Show member pathways
10.4 OTC NAGS CPS1 ASS1 ASL

GO Terms for Citrullinemia, Type Ii, Adult-Onset

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.65 SLC25A37 SLC25A22 SLC25A2 SLC25A15 SLC25A13 SLC25A12
2 mitochondrial inner membrane GO:0005743 9.23 SLC25A37 SLC25A22 SLC25A2 SLC25A15 SLC25A13 SLC25A12

Biological processes related to Citrullinemia, Type Ii, Adult-Onset according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 liver development GO:0001889 9.73 OTC CPS1 ASS1
2 cellular amino acid biosynthetic process GO:0008652 9.71 OTC ASS1 ASL
3 response to zinc ion GO:0010043 9.65 OTC CPS1 ASS1
4 ATP transport GO:0015867 9.61 SLC25A22 SLC25A13 SLC25A12
5 response to amino acid GO:0043200 9.6 CPS1 ASS1
6 response to steroid hormone GO:0048545 9.59 CPS1 ASS1
7 cellular response to glucagon stimulus GO:0071377 9.58 CPS1 ASS1
8 response to growth hormone GO:0060416 9.58 CPS1 ASS1
9 L-glutamate transmembrane transport GO:0015813 9.58 SLC25A22 SLC25A13 SLC25A12
10 response to amine GO:0014075 9.57 CPS1 ASS1
11 citrulline biosynthetic process GO:0019240 9.55 OTC CPS1
12 midgut development GO:0007494 9.54 OTC CPS1 ASS1
13 mitochondrial L-ornithine transmembrane transport GO:1990575 9.52 SLC25A2 SLC25A15
14 cellular response to oleic acid GO:0071400 9.51 CPS1 ASS1
15 aspartate transmembrane transport GO:0015810 9.5 SLC25A22 SLC25A13 SLC25A12
16 arginine biosynthetic process via ornithine GO:0042450 9.49 OTC ASL
17 anion homeostasis GO:0055081 9.46 OTC CPS1
18 L-aspartate transmembrane transport GO:0070778 9.43 SLC25A22 SLC25A13 SLC25A12
19 malate-aspartate shuttle GO:0043490 9.33 SLC25A22 SLC25A13 SLC25A12
20 arginine biosynthetic process GO:0006526 9.26 OTC NAGS ASS1 ASL
21 urea cycle GO:0000050 9.17 SLC25A2 SLC25A15 OTC NAGS CPS1 ASS1

Molecular functions related to Citrullinemia, Type Ii, Adult-Onset according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.87 SLC25A13 SLC25A12 OTC GALE ASS1 ASL
2 transmembrane transporter activity GO:0022857 9.58 SLC25A22 SLC25A13 SLC25A12
3 amino acid binding GO:0016597 9.37 OTC ASS1
4 ATP transmembrane transporter activity GO:0005347 9.33 SLC25A22 SLC25A13 SLC25A12
5 L-ornithine transmembrane transporter activity GO:0000064 9.26 SLC25A2 SLC25A15
6 L-glutamate transmembrane transporter activity GO:0005313 9.13 SLC25A22 SLC25A13 SLC25A12
7 L-aspartate transmembrane transporter activity GO:0015183 8.8 SLC25A22 SLC25A13 SLC25A12

Sources for Citrullinemia, Type Ii, Adult-Onset

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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