CTLN2
MCID: CTR177
MIFTS: 55

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 57
Citrin Deficiency 57 12 25 20 58 72 29 6 70
Citrullinemia Type Ii 20 58 72 29 6
Ctln2 57 20 58 72 54
Citrullinemia, Adult-Onset Type Ii 57 29 13 6
Adult-Onset Citrullinemia Type 2 20 58 72 70
Adult-Onset Type Ii Citrullinemia 12 20 15
Adult-Onset Citrullinemia Type Ii 20 58
Adult-Onset Citrin Deficiency 20 58
Citrullinemia Type 2 20 58
Citrullinemia, Type Ii 39
Citrullinemia 2 72

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®:

57 (Updated 05-Apr-2021)
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:

25
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

GARD : 20 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 cholestasis, intrahepatic, of pregnancy, 1 and carbonic anhydrase va deficiency, hyperammonemia due to. 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 Carbon metabolism. Affiliated tissues include liver and brain, 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® : 57 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) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 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 102)
# Related Disease Score Top Affiliating Genes
1 cholestasis, intrahepatic, of pregnancy, 1 30.8 SLC25A13 ABCB11
2 carbonic anhydrase va deficiency, hyperammonemia due to 29.9 SLC25A15 SLC25A13 NAGS CPS1 ASS1
3 bilirubin metabolic disorder 29.7 SLC25A13 HSD3B7 AFP ABCB11
4 cholestasis 29.7 SLC25A13 HSD3B7 ABCB11
5 tyrosinemia, type i 29.6 NAGS ASL AFP
6 liver disease 29.1 SLC25A13 HSD3B7 AFP ABCB11
7 urea cycle disorder 28.5 SLC25A2 SLC25A15 SLC25A13 SLC25A12 NAGS CPS1
8 citrullinemia, classic 26.9 SPINK1 SLC25A37 SLC25A2 SLC25A15 SLC25A13 SLC25A12
9 biliary atresia 10.4
10 galactosemia i 10.3
11 non-alcoholic steatohepatitis 10.3
12 pancreatitis 10.3
13 non-alcoholic fatty liver disease 10.2
14 tyrosinemia 10.2
15 hepatocellular carcinoma 10.2
16 fatty liver disease, nonalcoholic 1 10.2
17 neonatal jaundice 10.2
18 subacute delirium 10.2
19 schizophrenia 10.1
20 down syndrome 10.1
21 microvascular complications of diabetes 3 10.1
22 microvascular complications of diabetes 4 10.1
23 microvascular complications of diabetes 6 10.1
24 microvascular complications of diabetes 7 10.1
25 gastric cancer 10.1
26 alacrima, achalasia, and mental retardation syndrome 10.1
27 hypermethioninemia 10.1
28 polycystic kidney disease 10.1
29 polyneuropathy 10.1
30 epilepsy 10.1
31 temporal lobe epilepsy 10.1
32 somatostatinoma 10.1
33 kidney disease 10.1
34 duodenal somatostatinoma 10.1
35 chronic kidney disease 10.1
36 spastic paraparesis 10.1
37 syncope 10.1
38 tyrosinemia, type ii 10.1 NAGS CPS1
39 isovaleric acidemia 10.1 NAGS CPS1
40 hypercholesterolemia, familial, 1 10.1
41 ocular motor apraxia 10.1
42 phenylketonuria 10.1
43 abdominal obesity-metabolic syndrome 1 10.1
44 syphilis 10.1
45 hyperglycemia 10.1
46 hemolytic anemia 10.1
47 inherited metabolic disorder 10.1
48 hyperphenylalaninemia 10.1
49 tremor 10.1
50 propionic acidemia 10.0 NAGS CPS1 ASS1

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 tremor 58 31 frequent (33%) Frequent (79-30%) HP:0001337
6 hepatomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002240
7 hallucinations 58 31 frequent (33%) Frequent (79-30%) HP:0000738
8 hypertriglyceridemia 58 31 frequent (33%) Frequent (79-30%) HP:0002155
9 elevated hepatic transaminase 58 31 frequent (33%) Frequent (79-30%) HP:0002910
10 irritability 58 31 frequent (33%) Frequent (79-30%) HP:0000737
11 memory impairment 58 31 frequent (33%) Frequent (79-30%) HP:0002354
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 coma 58 31 occasional (7.5%) Occasional (29-5%) HP:0001259
34 diarrhea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002014
35 hyperactivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000752
36 pancreatitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001733
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®:

57 (Updated 05-Apr-2021)
Abdomen Liver:
hepatic steatosis
fibrosis
nonalcoholic fatty liver disease
hepatocyte ballooning

Neurologic Central Nervous System:
coma
confusion
disorientation
sudden onset of neuropsychiatric symptoms
disturbance of consciousness
more
Neoplasia:
hepatocellular carcinoma

Laboratory Abnormalities:
hyperammonemia
increased serum triglycerides
abnormal liver enzymes
citrullinemia
low serum albumin
more
Abdomen Pancreas:
pancreatitis

Clinical features from OMIM®:

603471 (Updated 05-Apr-2021)

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

26 (show all 29)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-112 9.91 GALE
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-114 9.91 AFP
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-120 9.91 AFP
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 9.91 ABCB11
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-15 9.91 GALE
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-16 9.91 GALE
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-163 9.91 GALE
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-166 9.91 GALE
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 9.91 ABCB11
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-29 9.91 AFP
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-63 9.91 AFP
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-65 9.91 AFP
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.91 GALE
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-74 9.91 GALE
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-75 9.91 ABCB11 AFP GALE
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-9 9.91 ABCB11
17 Increased shRNA abundance (Z-score > 2) GR00366-A-117 9.62 AFP
18 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.62 SLC25A15
19 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.62 SLC25A15
20 Increased shRNA abundance (Z-score > 2) GR00366-A-192 9.62 AFP
21 Increased shRNA abundance (Z-score > 2) GR00366-A-211 9.62 SLC25A15
22 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.62 SPINK1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.62 SLC25A15
24 Increased shRNA abundance (Z-score > 2) GR00366-A-48 9.62 AFP SLC25A22
25 Increased shRNA abundance (Z-score > 2) GR00366-A-62 9.62 SLC25A15
26 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.62 SPINK1 SLC25A15
27 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.62 SLC25A22
28 Increased shRNA abundance (Z-score > 2) GR00366-A-89 9.62 AFP
29 Increased shRNA abundance (Z-score > 2) GR00366-A-96 9.62 SLC25A22

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.7 ABCB11 AFP ASL ASS1 CPS1 HSD3B7
2 mortality/aging MP:0010768 9.4 ABCB11 AFP ASL ASS1 CPS1 HSD3B7

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

Search Clinical Trials , 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
3 Citrullinemia, Adult-Onset Type Ii 29

Anatomical Context for Citrullinemia, Type Ii, Adult-Onset

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

40
Liver, Brain

Publications for Citrullinemia, Type Ii, Adult-Onset

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

(show top 50) (show all 247)
# Title Authors PMID Year
1
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. 6 61 54 25 57
11793471 2002
2
Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia. 54 57 6 25
11153906 2000
3
The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein. 54 57 6 25
10369257 1999
4
An adult with type 2 citrullinemia presenting in Europe. 25 57 6
18367750 2008
5
[Failure to thrive and dyslipidemia caused by citrin deficiency: a novel clinical phenotype]. 25 6 54 61
19470249 2009
6
Citrin deficiency as a cause of chronic liver disorder mimicking non-alcoholic fatty liver disease. 54 61 57 25
18620775 2008
7
Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency. 61 6 54 25
18392553 2008
8
Citrin/mitochondrial glycerol-3-phosphate dehydrogenase double knock-out mice recapitulate features of human citrin deficiency. 54 61 57 25
17591776 2007
9
Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency. 57 25 61 54
16059747 2005
10
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. 54 61 25 6
15050970 2004
11
Neonatal intrahepatic cholestasis caused by citrin deficiency: severe hepatic dysfunction in an infant requiring liver transplantation. 6 25 54 61
12424587 2002
12
Molecular diagnosis of pediatric patients with citrin deficiency in China: SLC25A13 mutation spectrum and the geographic distribution. 6 25 61
27405544 2016
13
Clinical, molecular and functional investigation on an infant with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). 6 61 25
24586645 2014
14
SLC25A13 gene analysis in citrin deficiency: sixteen novel mutations in East Asian patients, and the mutation distribution in a large pediatric cohort in China. 25 6 61
24069319 2013
15
Multiple ovarian antral follicles in a preterm infant with neonatal intrahepatic cholestasis caused by citrin deficiency: a clinical, genetic and transcriptional analysis. 61 6 25
22710133 2012
16
Treatment with lactose (galactose)-restricted and medium-chain triglyceride-supplemented formula for neonatal intrahepatic cholestasis caused by citrin deficiency. 25 6 61
23430852 2012
17
Genotypic and phenotypic features of citrin deficiency: five-year experience in a Chinese pediatric center. 25 6 61
21424115 2011
18
The mutation spectrum of the SLC25A13 gene in Chinese infants with intrahepatic cholestasis and aminoacidemia. 6 25 61
20927635 2011
19
[Studies on the clinical manifestation and SLC25A13 gene mutation of Chinese patients with neonatal intrahepatic cholestasis caused by citrin deficiency]. 25 6 61
20376801 2010
20
Citrin deficiency and current treatment concepts. 61 25 57
20233664 2010
21
Citrin deficiency, a perplexing global disorder. 25 6 61
19036621 2009
22
Utility of oligonucleotide array-based comparative genomic hybridization for detection of target gene deletions. 61 25 6
18487280 2008
23
A case of adult-onset type II citrullinemia--deterioration of clinical course after infusion of hyperosmotic and high sugar solutions. 25 6 54
16449956 2006
24
Application of mutation analysis for the previously uncertain cases of adult-onset type II citrullinemia (CTLN2) and their clinical profiles. 54 25 6
12512993 2002
25
Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD). 25 61 57
12111366 2002
26
Screening of nine SLC25A13 mutations: their frequency in patients with citrin deficiency and high carrier rates in Asian populations. 61 6 54
14680984 2003
27
Possible clinical and histologic manifestations of adult-onset type II citrullinemia in early infancy. 25 6
11343053 2001
28
Medium-chain triglycerides supplement therapy with a low-carbohydrate formula can supply energy and enhance ammonia detoxification in the hepatocytes of patients with adult-onset type II citrullinemia. 6 61
29651749 2018
29
Cholesterol Metabolism Is Enhanced in the Liver and Brain of Children With Citrin Deficiency. 61 6
29659898 2018
30
[Analysis of clinical features and SLC25A13 gene mutations in a family affected with neonatal intrahepatic cholestasis]. 61 6
27577219 2016
31
Case report: An adult-onset type II citrin deficiency patient in the emergency department. 61 6
27347070 2016
32
CITRIN DEFICIENCY: AN INFANT INCIDENTALLY DETECTED BY PHENYLKETONURIA SCREENING WITH A NOVEL MUTATION IN SLC25A13 GENE. 6 61
26852511 2015
33
A novel mutation of the SLC25A13 gene in a Chinese patient with citrin deficiency detected by target next-generation sequencing. 61 6
24161253 2014
34
First Bulgarian case of citrin deficiency caused by one novel and one recurrent mutation in the SLC25A13 gene. 61 6
25365849 2014
35
Prediction of the functional effect of novel SLC25A13 variants using a S. cerevisiae model of AGC2 deficiency. 61 6
23053473 2013
36
Molecular analysis of SLC25A13 gene in human peripheral blood lymphocytes: Marked transcript diversity, and the feasibility of cDNA cloning as a diagnostic tool for citrin deficiency. 61 6
23022256 2012
37
Neonatal intrahepatic cholestasis caused by citrin deficiency: prevalence and SLC25A13 mutations among Thai infants. 6 61
23067347 2012
38
[SLC25A13 gene analysis in neonates with intrahepatic cholestasis caused by citrin deficiency]. 6 61
21507300 2011
39
High resolution melting analysis for the detection of SLC25A13 gene mutations in Taiwan. 6 61
21134364 2011
40
Primary liver carcinoma exhibiting dual hepatocellular-biliary epithelial differentiations associated with citrin deficiency: a case report. 54 61 25
18385606 2008
41
Reduced carbohydrate intake in citrin-deficient subjects. 25 61 54
18415701 2008
42
Neonatal intrahepatic cholestasis caused by citrin deficiency in Korean infants. 61 54 25
18162705 2007
43
Six cases of citrin deficiency in Korea. 25 54 61
17982687 2007
44
[SLC25A13 gene mutation analysis in a pedigree of neonatal intrahepatic cholestasis caused by citrin deficiency]. 61 6
17880783 2007
45
Novel diagnostic approach to citrin deficiency: analysis of citrin protein in lymphocytes. 61 54 25
17092749 2007
46
Homozygous SLC25A13 mutation in a Taiwanese patient with adult-onset citrullinemia complicated with steatosis and hepatocellular carcinoma. 61 25 54
17000460 2006
47
Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiency. 25 54 61
16736097 2006
48
Variant clinical courses of 2 patients with neonatal intrahepatic cholestasis who have a novel mutation of SLC25A13. 54 25 61
16311094 2005
49
Citrin Deficiency 61 6
20301360 2005
50
Risk of worsened encephalopathy after intravenous glycerol therapy in patients with adult-onset type II citrullinemia (CTLN2). 25 54 61
15805705 2005

Variations for Citrullinemia, Type Ii, Adult-Onset

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

6 (show top 50) (show all 175)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC25A13 NM_014251.3(SLC25A13):c.1712del (p.Arg571fs) Deletion Pathogenic 469032 rs1554335461 GRCh37: 7:95751189-95751189
GRCh38: 7:96121877-96121877
2 SLC25A13 NM_014251.3(SLC25A13):c.1375del (p.Ala459fs) Deletion Pathogenic 638891 rs1178306013 GRCh37: 7:95775945-95775945
GRCh38: 7:96146633-96146633
3 SLC25A13 NM_014251.3(SLC25A13):c.978_979AG[1] (p.Glu327fs) Microsatellite Pathogenic 643067 rs764401478 GRCh37: 7:95814276-95814277
GRCh38: 7:96184964-96184965
4 SLC25A13 NM_014251.3(SLC25A13):c.1762C>T (p.Arg588Ter) SNV Pathogenic 664925 rs1261058897 GRCh37: 7:95751046-95751046
GRCh38: 7:96121734-96121734
5 SLC25A13 NC_000007.14:g.(?_96234792)_(96234927_?)del Deletion Pathogenic 830502 GRCh37: 7:95864104-95864239
GRCh38:
6 SLC25A13 NC_000007.14:g.(?_96191099)_(96193193_?)del Deletion Pathogenic 831578 GRCh37: 7:95820411-95822505
GRCh38:
7 SLC25A13 NM_014251.3(SLC25A13):c.571del (p.Arg191fs) Deletion Pathogenic 838520 GRCh37: 7:95822393-95822393
GRCh38: 7:96193081-96193081
8 SLC25A13 NM_014251.3(SLC25A13):c.1196T>A (p.Leu399Ter) SNV Pathogenic 860951 GRCh37: 7:95800818-95800818
GRCh38: 7:96171506-96171506
9 SLC25A13 NM_014251.3(SLC25A13):c.848+3A>C SNV Pathogenic 850379 GRCh37: 7:95818890-95818890
GRCh38: 7:96189578-96189578
10 SLC25A13 NM_014251.3(SLC25A13):c.1801G>T (p.Glu601Ter) SNV Pathogenic 21513 rs80338727 GRCh37: 7:95751007-95751007
GRCh38: 7:96121695-96121695
11 SLC25A13 NM_014251.3(SLC25A13):c.607_611dup (p.Ala205_Ala206insTer) Duplication Pathogenic 948894 GRCh37: 7:95822352-95822353
GRCh38: 7:96193040-96193041
12 SLC25A13 NM_014251.3(SLC25A13):c.1449C>A (p.Tyr483Ter) SNV Pathogenic 958810 GRCh37: 7:95775871-95775871
GRCh38: 7:96146559-96146559
13 SLC25A13 NM_014251.3(SLC25A13):c.1177+1G>A SNV Pathogenic 6002 rs80338722 GRCh37: 7:95813588-95813588
GRCh38: 7:96184276-96184276
14 SLC25A13 NM_014251.3(SLC25A13):c.1638_1660dup (p.Ala554fs) Duplication Pathogenic 6003 rs80338725 GRCh37: 7:95751240-95751241
GRCh38: 7:96121928-96121929
15 SLC25A13 NM_014251.3(SLC25A13):c.674C>A (p.Ser225Ter) SNV Pathogenic 6004 rs80338719 GRCh37: 7:95820501-95820501
GRCh38: 7:96191189-96191189
16 SLC25A13 NM_014251.3(SLC25A13):c.1311+1G>A SNV Pathogenic 6005 rs80338723 GRCh37: 7:95799356-95799356
GRCh38: 7:96170044-96170044
17 SLC25A13 NM_014251.3(SLC25A13):c.1763G>A (p.Arg588Gln) SNV Pathogenic 6007 rs121908532 GRCh37: 7:95751045-95751045
GRCh38: 7:96121733-96121733
18 SLC25A13 NM_014251.3(SLC25A13):c.615+5G>A SNV Pathogenic 21517 rs80338717 GRCh37: 7:95822344-95822344
GRCh38: 7:96193032-96193032
19 SLC25A13 NM_014251.3(SLC25A13):c.1311+1G>A SNV Pathogenic 6005 rs80338723 GRCh37: 7:95799356-95799356
GRCh38: 7:96170044-96170044
20 SLC25A13 NM_014251.3(SLC25A13):c.1177+1G>A SNV Pathogenic 6002 rs80338722 GRCh37: 7:95813588-95813588
GRCh38: 7:96184276-96184276
21 SLC25A13 NM_014251.3(SLC25A13):c.615+5G>A SNV Pathogenic 21517 rs80338717 GRCh37: 7:95822344-95822344
GRCh38: 7:96193032-96193032
22 SLC25A13 NM_014251.3(SLC25A13):c.1638_1660dup (p.Ala554fs) Duplication Pathogenic 6003 rs80338725 GRCh37: 7:95751240-95751241
GRCh38: 7:96121928-96121929
23 SLC25A13 NM_014251.3(SLC25A13):c.1078C>T (p.Arg360Ter) SNV Pathogenic 21508 rs80338721 GRCh37: 7:95813688-95813688
GRCh38: 7:96184376-96184376
24 SLC25A13 NM_014251.3(SLC25A13):c.674C>A (p.Ser225Ter) SNV Pathogenic 6004 rs80338719 GRCh37: 7:95820501-95820501
GRCh38: 7:96191189-96191189
25 SLC25A13 NM_014251.3(SLC25A13):c.955C>T (p.Arg319Ter) SNV Pathogenic 372748 rs763191789 GRCh37: 7:95814302-95814302
GRCh38: 7:96184990-96184990
26 SLC25A13 NM_014251.3(SLC25A13):c.1063C>T (p.Arg355Ter) SNV Pathogenic 449394 rs758827458 GRCh37: 7:95813703-95813703
GRCh38: 7:96184391-96184391
27 SLC25A13 NM_014251.3(SLC25A13):c.1399C>T (p.Arg467Ter) SNV Pathogenic 939098 GRCh37: 7:95775921-95775921
GRCh38: 7:96146609-96146609
28 SLC25A13 NM_014251.3(SLC25A13):c.1799dup (p.Tyr600Ter) Duplication Pathogenic 6006 rs80338726 GRCh37: 7:95751008-95751009
GRCh38: 7:96121696-96121697
29 SLC25A13 NM_014251.3(SLC25A13):c.852_855del (p.Met285fs) Deletion Pathogenic 225472 rs80338720 GRCh37: 7:95818684-95818687
GRCh38: 7:96189372-96189375
30 SLC25A13 NM_014251.3(SLC25A13):c.852_855del (p.Met285fs) Deletion Pathogenic 225472 rs80338720 GRCh37: 7:95818684-95818687
GRCh38: 7:96189372-96189375
31 SLC25A13 NM_014251.3(SLC25A13):c.550C>T (p.Arg184Ter) SNV Pathogenic 21515 rs80338716 GRCh37: 7:95822414-95822414
GRCh38: 7:96193102-96193102
32 SLC25A13 NM_014251.3(SLC25A13):c.1799dup (p.Tyr600Ter) Duplication Pathogenic 6006 rs80338726 GRCh37: 7:95751008-95751009
GRCh38: 7:96121696-96121697
33 SLC25A13 NM_014251.3(SLC25A13):c.550C>T (p.Arg184Ter) SNV Pathogenic 21515 rs80338716 GRCh37: 7:95822414-95822414
GRCh38: 7:96193102-96193102
34 SLC25A13 NM_014251.3(SLC25A13):c.852_855del (p.Met285fs) Deletion Pathogenic 225472 rs80338720 GRCh37: 7:95818684-95818687
GRCh38: 7:96189372-96189375
35 SLC25A13 NM_014251.3(SLC25A13):c.1799dup (p.Tyr600Ter) Duplication Pathogenic 6006 rs80338726 GRCh37: 7:95751008-95751009
GRCh38: 7:96121696-96121697
36 SLC25A13 NM_014251.3(SLC25A13):c.1947_1948del (p.Gly649_Ile650insTer) Deletion Pathogenic 1030313 GRCh37: 7:95750583-95750584
GRCh38: 7:96121271-96121272
37 SLC25A13 NM_014251.3(SLC25A13):c.1078C>T (p.Arg360Ter) SNV Likely pathogenic 21508 rs80338721 GRCh37: 7:95813688-95813688
GRCh38: 7:96184376-96184376
38 SLC25A13 NM_014251.3(SLC25A13):c.468+1G>C SNV Likely pathogenic 417947 rs1060499612 GRCh37: 7:95838149-95838149
GRCh38: 7:96208837-96208837
39 SLC25A13 NM_014251.3(SLC25A13):c.70-1G>A SNV Likely pathogenic 593512 rs962082210 GRCh37: 7:95906651-95906651
GRCh38: 7:96277339-96277339
40 SLC25A13 NM_014251.3(SLC25A13):c.1048G>A (p.Asp350Asn) SNV Likely pathogenic 855835 GRCh37: 7:95813718-95813718
GRCh38: 7:96184406-96184406
41 SLC25A13 NM_014251.3(SLC25A13):c.1453-1G>A SNV Likely pathogenic 850244 GRCh37: 7:95761194-95761194
GRCh38: 7:96131882-96131882
42 SLC25A13 NM_014251.3(SLC25A13):c.1637C>T (p.Thr546Met) SNV Likely pathogenic 934709 GRCh37: 7:95751264-95751264
GRCh38: 7:96121952-96121952
43 SLC25A13 NM_014251.3(SLC25A13):c.1801G>A (p.Glu601Lys) SNV Likely pathogenic 21512 rs80338727 GRCh37: 7:95751007-95751007
GRCh38: 7:96121695-96121695
44 SLC25A13 NM_014251.3(SLC25A13):c.328+1G>T SNV Likely pathogenic 839429 GRCh37: 7:95864113-95864113
GRCh38: 7:96234801-96234801
45 SLC25A13 NM_014251.3(SLC25A13):c.848+1G>T SNV Likely pathogenic 802338 rs761370420 GRCh37: 7:95818892-95818892
GRCh38: 7:96189580-96189580
46 SLC25A13 NM_014251.3(SLC25A13):c.135G>C (p.Leu45Phe) SNV Uncertain significance 849656 GRCh37: 7:95906585-95906585
GRCh38: 7:96277273-96277273
47 SLC25A13 NM_014251.3(SLC25A13):c.15+5C>T SNV Uncertain significance 952163 GRCh37: 7:95951249-95951249
GRCh38: 7:96321937-96321937
48 SLC25A13 NM_014251.3(SLC25A13):c.79A>G (p.Ile27Val) SNV Uncertain significance 949176 GRCh37: 7:95906641-95906641
GRCh38: 7:96277329-96277329
49 SLC25A13 NC_000007.14:g.(?_96121171)_(96321976_?)dup Duplication Uncertain significance 833215 GRCh37: 7:95750483-95951288
GRCh38:
50 SLC25A13 NM_014251.3(SLC25A13):c.1618C>T (p.Pro540Ser) SNV Uncertain significance 501902 rs75622628 GRCh37: 7:95751283-95751283
GRCh38: 7:96121971-96121971

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
13.59 SLC25A37 SLC25A2 SLC25A15 SLC25A13 SLC25A12 NAGS
2
Show member pathways
11.95 NAGS CPS1 ASS1 ASL
3 11 CPS1 ASS1 ASL
4
Show member pathways
10.69 NAGS CPS1 ASS1 ASL
5
Show member pathways
10.48 ASS1 ASL
6
Show member pathways
10.3 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 9.61 SLC25A37 SLC25A22 SLC25A2 SLC25A15 SLC25A13 SLC25A12
2 mitochondrial inner membrane GO:0005743 9.17 SLC25A37 SLC25A22 SLC25A2 SLC25A15 SLC25A13 SLC25A12

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 gluconeogenesis GO:0006094 9.58 SLC25A13 SLC25A12
2 response to amino acid GO:0043200 9.58 CPS1 ASS1
3 L-glutamate transmembrane transport GO:0015813 9.58 SLC25A22 SLC25A13 SLC25A12
4 response to zinc ion GO:0010043 9.57 CPS1 ASS1
5 response to steroid hormone GO:0048545 9.56 CPS1 ASS1
6 bile acid biosynthetic process GO:0006699 9.55 HSD3B7 ABCB11
7 cellular response to glucagon stimulus GO:0071377 9.54 CPS1 ASS1
8 aspartate transmembrane transport GO:0015810 9.54 SLC25A22 SLC25A13 SLC25A12
9 response to growth hormone GO:0060416 9.52 CPS1 ASS1
10 response to amine GO:0014075 9.51 CPS1 ASS1
11 L-aspartate transmembrane transport GO:0070778 9.5 SLC25A22 SLC25A13 SLC25A12
12 midgut development GO:0007494 9.49 CPS1 ASS1
13 cellular response to ammonium ion GO:0071242 9.48 CPS1 ASS1
14 mitochondrial L-ornithine transmembrane transport GO:1990575 9.46 SLC25A2 SLC25A15
15 cellular response to oleic acid GO:0071400 9.43 CPS1 ASS1
16 arginine biosynthetic process GO:0006526 9.43 NAGS ASS1 ASL
17 malate-aspartate shuttle GO:0043490 9.33 SLC25A22 SLC25A13 SLC25A12
18 transport GO:0006810 9.26 SLC25A22 SLC25A13 SLC25A12 AFP
19 urea cycle GO:0000050 9.1 SLC25A2 SLC25A15 NAGS CPS1 ASS1 ASL

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

# Name GO ID Score Top Affiliating Genes
1 transmembrane transporter activity GO:0022857 9.5 SLC25A22 SLC25A13 SLC25A12
2 ATP transmembrane transporter activity GO:0005347 9.33 SLC25A22 SLC25A13 SLC25A12
3 L-ornithine transmembrane transporter activity GO:0000064 9.26 SLC25A2 SLC25A15
4 L-glutamate transmembrane transporter activity GO:0005313 9.13 SLC25A22 SLC25A13 SLC25A12
5 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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