MCID: CTR177
MIFTS: 35

Citrullinemia, Type Ii, Adult-Onset

Categories: Genetic diseases, Rare diseases, Liver diseases, Metabolic 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 24 53 75 29 6 73
Citrullinemia Type Ii 53 59 75 29 6
Ctln2 57 53 59 75 55
Adult-Onset Citrullinemia Type 2 53 59 75 73
Citrullinemia, Adult-Onset Type Ii 57 13
Adult-Onset Citrullinemia Type Ii 53 59
Citrullinemia Type 2 53 59
Adult-Onset Citrin Deficiency 59
Citrullinemia, Type Ii 40
Citrullinemia 2 75

Characteristics:

Orphanet epidemiological data:

59
citrullinemia type ii
Inheritance: Autosomal recessive; Age of onset: Adult;

OMIM:

57
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:

32
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:



External Ids:

OMIM 57 603471
Orphanet 59 ORPHA247585
ICD10 via Orphanet 34 E72.2
UMLS via Orphanet 74 C1863844
MedGen 42 C1863844
MeSH 44 D056806

Summaries for Citrullinemia, Type Ii, Adult-Onset

NIH Rare Diseases : 53 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 citrullinemia, type ii, neonatal-onset and cholestasis. An important gene associated with Citrullinemia, Type Ii, Adult-Onset is SLC25A13 (Solute Carrier Family 25 Member 13). Affiliated tissues include liver, brain and testes, and related phenotypes are hypertriglyceridemia and hepatic steatosis

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)

UniProtKB/Swiss-Prot : 75 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:

# Related Disease Score Top Affiliating Genes
1 citrullinemia, type ii, neonatal-onset 12.3
2 cholestasis 10.6
3 intrahepatic cholestasis 10.6
4 hepatitis 9.9
5 encephalopathy 9.9
6 citrullinemia, classic 9.4 ASS1 SLC25A13
7 urea cycle disorder 9.3 ASS1 SLC25A13
8 ornithine transcarbamylase deficiency, hyperammonemia due to 9.2 ASS1 SLC25A13
9 autosomal recessive disease 9.0 ASS1 SLC25A13

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

Symptoms via clinical synopsis from OMIM:

57
Abdomen Liver:
hepatic steatosis
fibrosis
nonalcoholic fatty liver disease
hepatocyte ballooning

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

Abdomen Pancreas:
pancreatitis

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

Clinical features from OMIM:

603471

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

32 (show all 9)
# 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

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.62 ASS1 SLC25A13

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

Anatomical Context for Citrullinemia, Type Ii, Adult-Onset

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

41
Liver, Brain, Testes

Publications for Citrullinemia, Type Ii, Adult-Onset

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

(show top 50) (show all 83)
# Title Authors Year
1
Analysis of islet beta cell functions and their correlations with liver dysfunction in patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). ( 29137101 )
2017
2
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<i>SLC25A13</i>allele. ( 29152073 )
2017
3
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. ( 27127784 )
2016
4
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. ( 27779681 )
2016
5
CITRIN DEFICIENCY: AN INFANT INCIDENTALLY DETECTED BY PHENYLKETONURIA SCREENING WITH A NOVEL MUTATION IN SLC25A13 GENE. ( 26852511 )
2015
6
A Novel Citrin Deficiency Mutation in a Cholestatic Infant. ( 25187103 )
2014
7
Screening for five prevalent mutations of SLC25A13 gene in Guangdong, China: a molecular epidemiologic survey of citrin deficiency. ( 25110155 )
2014
8
First Bulgarian case of citrin deficiency caused by one novel and one recurrent mutation in the SLC25A13 gene. ( 25365849 )
2014
9
A novel mutation of the SLC25A13 gene in a Chinese patient with citrin deficiency detected by target next-generation sequencing. ( 24161253 )
2014
10
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. ( 25216257 )
2014
11
Clinical, molecular and functional investigation on an infant with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). ( 24586645 )
2014
12
SLC25A13 gene analysis in citrin deficiency: sixteen novel mutations in East Asian patients, and the mutation distribution in a large pediatric cohort in China. ( 24069319 )
2013
13
Fatigue and quality of life in citrin deficiency during adaptation and compensation stage. ( 23453692 )
2013
14
Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests. ( 23394329 )
2013
15
Citrin deficiency in a Romanian child living in Spain highlights the worldwide distribution of this defect and illustrates the value of nutritional therapy. ( 23835251 )
2013
16
[Utilization of high-resolution melting analysis to screen patients with neonatal intrahepatic cholestasis caused by citrin deficiency]. ( 22487826 )
2012
17
Multiple ovarian antral follicles in a preterm infant with neonatal intrahepatic cholestasis caused by citrin deficiency: a clinical, genetic and transcriptional analysis. ( 22710133 )
2012
18
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. ( 23022256 )
2012
19
Neonatal intrahepatic cholestasis caused by citrin deficiency: prevalence and SLC25A13 mutations among Thai infants. ( 23067347 )
2012
20
Treatment with lactose (galactose)-restricted and medium-chain triglyceride-supplemented formula for neonatal intrahepatic cholestasis caused by citrin deficiency. ( 23430852 )
2012
21
Simple and rapid genetic testing for citrin deficiency by screening 11 prevalent mutations in SLC25A13. ( 22277121 )
2012
22
Biochemical characteristics of neonatal cholestasis induced by citrin deficiency. ( 23112554 )
2012
23
Effects of supplementation on food intake, body weight and hepatic metabolites in the citrin/mitochondrial glycerol-3-phosphate dehydrogenase double-knockout mouse model of human citrin deficiency. ( 22921887 )
2012
24
A tribute to Keiko Kobayashi and her work on citrin deficiency. ( 22284267 )
2012
25
Diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency using high-resolution melting analysis and a clinical scoring system. ( 22575253 )
2012
26
A GC/MS-based metabolomic approach for diagnosing citrin deficiency. ( 21365350 )
2011
27
Genotypic and phenotypic features of citrin deficiency: five-year experience in a Chinese pediatric center. ( 21424115 )
2011
28
Development of a galactose biosensor with galactose oxidase-immobilized epidermis of Solanum lycopersicum: potential point-of-care testing for citrin deficiency in high-prevalence areas. ( 20971103 )
2011
29
Prenatal diagnosis of citrin deficiency in a Chinese family with a fatal proband. ( 22095253 )
2011
30
Hyperammonaemic encephalopathy in an adult patient with citrin deficiency associated with a novel mutation. ( 21979481 )
2011
31
Metabolomic analysis reveals hepatic metabolite perturbations in citrin/mitochondrial glycerol-3-phosphate dehydrogenase double-knockout mice, a model of human citrin deficiency. ( 21908222 )
2011
32
[SLC25A13 gene analysis in neonates with intrahepatic cholestasis caused by citrin deficiency]. ( 21507300 )
2011
33
A new Caucasian case of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD): a clinical, molecular, and functional study. ( 21914561 )
2011
34
Neonatal intrahepatic cholestasis caused by citrin deficiency in two Malaysian siblings: outcome at one year of life. ( 20200759 )
2010
35
Citrin deficiency: learn more, and don't forget to add it to the list of neonatal cholestasis and the NASH trash bin. ( 20479677 )
2010
36
Citrin deficiency and current treatment concepts. ( 20233664 )
2010
37
[Studies on the clinical manifestation and SLC25A13 gene mutation of Chinese patients with neonatal intrahepatic cholestasis caused by citrin deficiency]. ( 20376801 )
2010
38
Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in three Malay children. ( 20614727 )
2010
39
Histological findings in the livers of patients with neonatal intrahepatic cholestasis caused by citrin deficiency. ( 20070398 )
2010
40
Conventional diet therapy for hyperammonemia is risky in the treatment of hepatic encephalopathy associated with citrin deficiency. ( 20118603 )
2010
41
Liver transplantation for an infant with neonatal intrahepatic cholestasis caused by citrin deficiency using heterozygote living donor. ( 19413723 )
2010
42
Neonatal intrahepatic cholestasis associated with citrin deficiency (NICCD): a case series of 11 Malaysian patients. ( 21161389 )
2010
43
Citrin deficiency, a perplexing global disorder. ( 19036621 )
2009
44
[Citrin deficiency is an important etiology for cholestatic liver disease in children]. ( 19951499 )
2009
45
Neonatal intrahepatic cholestasis caused by citrin deficiency: clinical and laboratory investigation of 13 subjects in mainland of China. ( 19185551 )
2009
46
[Failure to thrive and dyslipidemia caused by citrin deficiency: a novel clinical phenotype]. ( 19470249 )
2009
47
Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) as a cause of liver disease in infants in the UK. ( 19517266 )
2009
48
Neonatal classical galactosaemia presenting as citrin deficiency. ( 18640739 )
2008
49
[Identification and diagnosis of three novel mutations in SLC25A13 gene of neonatal intrahepatic cholestasis caused by citrin deficiency]. ( 19099775 )
2008
50
Evidence of cataplerosis in a patient with neonatal classical galactosemia presenting as citrin deficiency. ( 18207281 )
2008

Variations for Citrullinemia, Type Ii, Adult-Onset

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

6
(show top 50) (show all 101)
# 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.1177+1G> A single nucleotide variant Pathogenic rs80338722 GRCh38 Chromosome 7, 96184276: 96184276
3 SLC25A13 NM_014251.2(SLC25A13): c.1638_1660dup23 (p.Ala554Glyfs) duplication Pathogenic rs80338725 GRCh37 Chromosome 7, 95751241: 95751263
4 SLC25A13 NM_014251.2(SLC25A13): c.1638_1660dup23 (p.Ala554Glyfs) duplication Pathogenic rs80338725 GRCh38 Chromosome 7, 96121929: 96121951
5 SLC25A13 NM_014251.2(SLC25A13): c.674C> A (p.Ser225Ter) single nucleotide variant Pathogenic rs80338719 GRCh37 Chromosome 7, 95820501: 95820501
6 SLC25A13 NM_014251.2(SLC25A13): c.674C> A (p.Ser225Ter) single nucleotide variant Pathogenic rs80338719 GRCh38 Chromosome 7, 96191189: 96191189
7 SLC25A13 NM_014251.2(SLC25A13): c.1311+1G> A single nucleotide variant Pathogenic rs80338723 GRCh37 Chromosome 7, 95799356: 95799356
8 SLC25A13 NM_014251.2(SLC25A13): c.1311+1G> A single nucleotide variant Pathogenic rs80338723 GRCh38 Chromosome 7, 96170044: 96170044
9 SLC25A13 NM_014251.2(SLC25A13): c.1799dupA (p.Tyr600Terfs) duplication Pathogenic rs80338726 GRCh37 Chromosome 7, 95751009: 95751009
10 SLC25A13 NM_014251.2(SLC25A13): c.1799dupA (p.Tyr600Terfs) duplication Pathogenic rs80338726 GRCh38 Chromosome 7, 96121697: 96121697
11 SLC25A13 NM_014251.2(SLC25A13): c.1763G> A (p.Arg588Gln) single nucleotide variant Pathogenic rs121908532 GRCh37 Chromosome 7, 95751045: 95751045
12 SLC25A13 NM_014251.2(SLC25A13): c.1763G> A (p.Arg588Gln) single nucleotide variant Pathogenic rs121908532 GRCh38 Chromosome 7, 96121733: 96121733
13 SLC25A13 NM_014251.2(SLC25A13): c.2T> C (p.Met1Thr) single nucleotide variant Uncertain significance rs541276426 GRCh37 Chromosome 7, 95951267: 95951267
14 SLC25A13 NM_014251.2(SLC25A13): c.2T> C (p.Met1Thr) single nucleotide variant Uncertain significance rs541276426 GRCh38 Chromosome 7, 96321955: 96321955
15 SLC25A13 NM_014251.2(SLC25A13): c.1910T> C (p.Val637Ala) single nucleotide variant Uncertain significance rs148962110 GRCh37 Chromosome 7, 95750621: 95750621
16 SLC25A13 NM_014251.2(SLC25A13): c.1910T> C (p.Val637Ala) single nucleotide variant Uncertain significance rs148962110 GRCh38 Chromosome 7, 96121309: 96121309
17 SLC25A13 NM_014251.2(SLC25A13): c.852_855delTATG (p.Met285Profs) deletion Pathogenic rs80338720 GRCh37 Chromosome 7, 95818684: 95818687
18 SLC25A13 NM_014251.2(SLC25A13): c.852_855delTATG (p.Met285Profs) deletion Pathogenic rs80338720 GRCh38 Chromosome 7, 96189372: 96189375
19 SLC25A13 NM_014251.2(SLC25A13): c.1194A> G (p.Leu398=) single nucleotide variant Benign rs2301629 GRCh37 Chromosome 7, 95800820: 95800820
20 SLC25A13 NM_014251.2(SLC25A13): c.1194A> G (p.Leu398=) single nucleotide variant Benign rs2301629 GRCh38 Chromosome 7, 96171508: 96171508
21 SLC25A13 NM_014251.2(SLC25A13): c.328+6A> G single nucleotide variant Benign rs6957975 GRCh38 Chromosome 7, 96234796: 96234796
22 SLC25A13 NM_014251.2(SLC25A13): c.328+6A> G single nucleotide variant Benign rs6957975 GRCh37 Chromosome 7, 95864108: 95864108
23 SLC25A13 NM_014251.2(SLC25A13): c.1680C> T (p.Ser560=) single nucleotide variant Benign rs150082469 GRCh37 Chromosome 7, 95751221: 95751221
24 SLC25A13 NM_014251.2(SLC25A13): c.1680C> T (p.Ser560=) single nucleotide variant Benign rs150082469 GRCh38 Chromosome 7, 96121909: 96121909
25 SLC25A13 NM_014251.2(SLC25A13): c.*729G> A single nucleotide variant Uncertain significance rs373153995 GRCh37 Chromosome 7, 95749774: 95749774
26 SLC25A13 NM_014251.2(SLC25A13): c.*729G> A single nucleotide variant Uncertain significance rs373153995 GRCh38 Chromosome 7, 96120462: 96120462
27 SLC25A13 NM_014251.2(SLC25A13): c.*517A> G single nucleotide variant Uncertain significance rs886062523 GRCh37 Chromosome 7, 95749986: 95749986
28 SLC25A13 NM_014251.2(SLC25A13): c.*517A> G single nucleotide variant Uncertain significance rs886062523 GRCh38 Chromosome 7, 96120674: 96120674
29 SLC25A13 NM_014251.2(SLC25A13): c.*310C> T single nucleotide variant Uncertain significance rs530869704 GRCh37 Chromosome 7, 95750193: 95750193
30 SLC25A13 NM_014251.2(SLC25A13): c.*310C> T single nucleotide variant Uncertain significance rs530869704 GRCh38 Chromosome 7, 96120881: 96120881
31 SLC25A13 NM_014251.2(SLC25A13): c.*72G> A single nucleotide variant Uncertain significance rs755310327 GRCh37 Chromosome 7, 95750431: 95750431
32 SLC25A13 NM_014251.2(SLC25A13): c.*72G> A single nucleotide variant Uncertain significance rs755310327 GRCh38 Chromosome 7, 96121119: 96121119
33 SLC25A13 NM_014251.2(SLC25A13): c.1177+5G> A single nucleotide variant Uncertain significance rs886062527 GRCh38 Chromosome 7, 96184272: 96184272
34 SLC25A13 NM_014251.2(SLC25A13): c.1177+5G> A single nucleotide variant Uncertain significance rs886062527 GRCh37 Chromosome 7, 95813584: 95813584
35 SLC25A13 NM_014251.2(SLC25A13): c.1088G> T (p.Gly363Val) single nucleotide variant Uncertain significance rs35996658 GRCh38 Chromosome 7, 96184366: 96184366
36 SLC25A13 NM_014251.2(SLC25A13): c.1088G> T (p.Gly363Val) single nucleotide variant Uncertain significance rs35996658 GRCh37 Chromosome 7, 95813678: 95813678
37 SLC25A13 NM_014251.2(SLC25A13): c.421G> A (p.Glu141Lys) single nucleotide variant Uncertain significance rs1131697 GRCh38 Chromosome 7, 96208885: 96208885
38 SLC25A13 NM_014251.2(SLC25A13): c.421G> A (p.Glu141Lys) single nucleotide variant Uncertain significance rs1131697 GRCh37 Chromosome 7, 95838197: 95838197
39 SLC25A13 NM_014251.2(SLC25A13): c.-85_-83dupCCG duplication Uncertain significance rs759638459 GRCh38 Chromosome 7, 96322039: 96322041
40 SLC25A13 NM_014251.2(SLC25A13): c.-85_-83dupCCG duplication Uncertain significance rs759638459 GRCh37 Chromosome 7, 95951351: 95951353
41 SLC25A13 NM_014251.2(SLC25A13): c.-115G> T single nucleotide variant Uncertain significance rs543933601 GRCh37 Chromosome 7, 95951383: 95951383
42 SLC25A13 NM_014251.2(SLC25A13): c.-115G> T single nucleotide variant Uncertain significance rs543933601 GRCh38 Chromosome 7, 96322071: 96322071
43 SLC25A13 NM_014251.2(SLC25A13): c.-127G> A single nucleotide variant Uncertain significance rs886062532 GRCh37 Chromosome 7, 95951395: 95951395
44 SLC25A13 NM_014251.2(SLC25A13): c.-127G> A single nucleotide variant Uncertain significance rs886062532 GRCh38 Chromosome 7, 96322083: 96322083
45 SLC25A13 NM_014251.2(SLC25A13): c.*909C> G single nucleotide variant Uncertain significance rs550323481 GRCh37 Chromosome 7, 95749594: 95749594
46 SLC25A13 NM_014251.2(SLC25A13): c.*909C> G single nucleotide variant Uncertain significance rs550323481 GRCh38 Chromosome 7, 96120282: 96120282
47 SLC25A13 NM_014251.2(SLC25A13): c.*570G> A single nucleotide variant Uncertain significance rs147716687 GRCh37 Chromosome 7, 95749933: 95749933
48 SLC25A13 NM_014251.2(SLC25A13): c.*570G> A single nucleotide variant Uncertain significance rs147716687 GRCh38 Chromosome 7, 96120621: 96120621
49 SLC25A13 NM_014251.2(SLC25A13): c.1945G> C (p.Gly649Arg) single nucleotide variant Uncertain significance rs757317844 GRCh37 Chromosome 7, 95750586: 95750586
50 SLC25A13 NM_014251.2(SLC25A13): c.1945G> C (p.Gly649Arg) single nucleotide variant Uncertain significance rs757317844 GRCh38 Chromosome 7, 96121274: 96121274

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

GO Terms for Citrullinemia, Type Ii, Adult-Onset

Sources for Citrullinemia, Type Ii, Adult-Onset

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