CIT
MCID: CTR001
MIFTS: 50

Citrullinemia (CIT) malady

Metabolic category

Summaries for Citrullinemia

Sources:
8Disease Ontology, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
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Genetics Home Reference:21 Citrullinemia is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. Two forms of citrullinemia have been described; they have different signs and symptoms and are caused by mutations in different genes.

MalaCards: Citrullinemia, also known as ass deficiency, is related to adult-onset citrullinemia type ii and reye syndrome. An important gene associated with Citrullinemia is ASS1 (argininosuccinate synthase 1), and among its related pathways are glutamine degradation I and Alanine, aspartate and glutamate metabolism. The compounds argininosuccinic acid and guanidinoacetate have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and brain, and related mouse phenotypes are integument and mortality/aging.

Disease Ontology:8 An urea cycle disorder that involves the accumulation of ammonia in the blood.

Wikipedia:64 Citrullinemia is an autosomal recessive urea cycle disorder that causes ammonia and other toxic... more...

Description from OMIM:47 215700

Aliases & Classifications for Citrullinemia

Sources:
8Disease Ontology, 9diseasecard, 21Genetics Home Reference, 47OMIM, 45Novoseek, 49Orphanet, 61UMLS, 57SNOMED-CT, 35MeSH, 40NCIt, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Metabolic


Characteristics (Orphanet epidemiological data):

49
citrullinemia:
Inheritance: Autosomal recessive; Age of onset: Childhood
ass deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Variable


Aliases & Descriptions:

citrullinemia 8 9 21 47 45 49 61
ass deficiency 8 49
citrullinuria 8 21
argininosuccinic acid synthetase deficiency 49
deficiency of citrulline-aspartate ligase 8
argininosuccinic acid synthase deficiency 49
argininosuccinate synthetase deficiency 49
argininosuccinate synthase deficiency 49
classic citrullinemia 49
citrullinemia type 1 49
citrullinemia type i 49
ctln1 49
cit 21


External Ids:

Disease Ontology8 DOID:9273
MeSH35 D020159
NCIt40 C84639
OMIM47 215700
MESH via Orphanet36 D020159
ICD10 via Orphanet26 E72.2
SNOMED-CT via Orphanet58 398630005, 398680004
UMLS via Orphanet62 C0175683

Related Diseases for Citrullinemia

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the adult-onset citrullinemia type ii family:

citrullinemia citrullinemia type i
adult-onset citrullinemia type i

Diseases related to Citrullinemia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 85)
idRelated DiseaseScoreTop Affiliating Genes
1adult-onset citrullinemia type ii30.9SLC25A13, ASS1
2reye syndrome30.3OTC, PC
3citrin deficiency30.3SLC25A13
4argininosuccinic aciduria30.3OTC, ASL
5brain disease30.0OTC, SLC25A13, PC
6ornithine carbamoyltransferase deficiency29.9OTC
7urea cycle disorder29.9ASL, ASS1
8carbamoyl phosphate synthetase i deficiency disease29.9OTC, ASS1
9hyperargininemia29.9ASL, ASS1, OTC
10fatty liver disease29.9PC, SLC25A13, ASS1
11citrullinemia type i10.7
12parkinson's disease10.7
13parkinson disease 110.6
14parkinson disease 1210.6
15adult-onset citrullinemia type i10.5
16tremor10.4
17neonatal intrahepatic cholestasis caused by citrin deficiency10.3
18essential tremor10.3
19acute neonatal citrullinemia type i10.3
20dystonia 110.2
21dystonia 1210.2
22neuronitis10.1
23progressive supranuclear palsy10.1
24bipolar disorder10.1
25hepatitis c10.1
26hepatitis d10.1
27hepatitis a10.1
28obsessive-compulsive disorder10.1
29down syndrome10.1
30vascular disease10.1
31propionic acidemia10.0OTC, ASS1
32cholestasis10.0SLC25A13
33ornithine translocase deficiency10.0OTC, SLC25A2
34hepatitis10.0ASL, OTC
35intrahepatic cholestasis10.0SLC25A13, SLC25A37
36orotic aciduria10.0ASL, ASS1, OTC
37hyperlysinemia10.0PC, OTC
38lysinuric protein intolerance10.0OTC, ASS1, ASL
39brain edema10.0OTC, SLC25A13
40hepatic encephalopathy10.0SLC25A13, ASS1
41multiple carboxylase deficiency10.0OTC, PC
42methylmalonic acidemia10.0PC, OTC
43liver cirrhosis10.0SLC25A13, OTC, ASS1
44galactosemia10.0OTC, SLC25A13
45metabolic syndrome x10.0PC, SLC25A13, OTC, ASS1
46hyperammonemia multi-gene panels10.0PC, SLC25A13, OTC, ASS1, ASL
47status epilepticus9.9
48somatostatinoma9.9
49maple syrup urine disease9.9
50protein s deficiency9.9

Graphical network of the top 20 diseases related to Citrullinemia:



Diseases related to citrullinemia

Clinical Features for Citrullinemia

Sources:
47OMIM
See all sources

Clinical features from OMIM:

215700

Clinical synopsis from OMIM:

215700

Drugs & Therapeutics for Citrullinemia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Citrullinemia

Drug clinical trials:

Search ClinicalTrials for Citrullinemia

Search NIH Clinical Center for Citrullinemia

Search CenterWatch for Citrullinemia

Genetic Tests for Citrullinemia

Anatomical Context for Citrullinemia

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Citrullinemia:

33
Skin, Liver, Brain

Animal Models for Citrullinemia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Citrullinemia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.3ASL, ASS1, SPINK1, OTC, SLC25A37
2MP:00107687.9SLC25A12, SLC25A37, OTC, SPINK1, ASS1, ASL

Publications for Citrullinemia

Sources:
51PubMed
See all sources

Articles related to Citrullinemia:

(show top 50)    (show all 175)
idTitleAuthorsYear
1
Liver transplantation versus conservative treatment for adult-onset type II citrullinemia: our experience and a review of the literature. (24182831)
2013
2
An elderly Japanese patient with adult-onset type II citrullinemia with a novel D493G mutation in the SLC25A13 gene. (22892490)
2012
3
First two cases of adult-onset type II citrullinemia successfully treated by deceased-donor liver transplantation in Japan. (22882336)
2012
4
Auxiliary partial orthotopic liver transplantation for adult onset type II citrullinemia. (22066084)
2011
5
Two hypomorphic alleles of mouse Ass1 as a new animal model of citrullinemia type I and other hyperammonemic syndromes. (20724589)
2010
6
A case of adult-onset type II citrullinemia with comorbid epilepsy even after liver transplantation. (21204812)
2010
7
Citrullinemia type I: molecular screening of the ASS1 gene by exonic sequencing and targeted mutation analysis. (20690080)
2010
8
An adult with type 2 citrullinemia presenting in Europe. (18367750)
2008
9
A case of adult-onset type II citrullinemia having a liver histology of nonalcoholic steatohepatitis (NASH)]. (18250596)
2008
10
Investigation of citrullinemia type I variants by in vitro expression studies. (18473344)
2008
11
An autopsy case with adult onset type II citrullinemia showing myelopathy. (17196992)
2007
12
Homozygous SLC25A13 mutation in a Taiwanese patient with adult-onset citrullinemia complicated with steatosis and hepatocellular carcinoma. (17000460)
2006
13
Characterization of late-onset citrullinemia 1 in a Korean patient: confirmation by argininosuccinate synthetase gene mutation analysis. (16889683)
2006
14
MRI of adult-onset type II citrullinemia. (15942114)
2005
15
Hyperammonemia with citrullinemia. (15347874)
2004
16
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. (15050970)
2004
17
Chronic pancreatitis associated with adult-onset type II citrullinemia: clinical and pathologic findings. (15466765)
2004
18
Slc25a13-knockout mice harbor metabolic deficits but fail to display hallmarks of adult-onset type II citrullinemia. (14701727)
2004
19
A neonatal case of citrullinemia with urolithiasis. (15573861)
2004
20
Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients. (12815590)
2003
21
Infantile citrullinemia caused by citrin deficiency with increased dibasic amino acids. (12409267)
2002
22
Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD). (12111366)
2002
23
A pediatric patient with classical citrullinemia who underwent living-related partial liver transplantation. (11391244)
2001
24
Infantile cholestatic jaundice associated with adult-onset type II citrullinemia. (11343052)
2001
25
Neonatal presentation of adult-onset type II citrullinemia. (11281457)
2001
26
Novel 67-bp insertional mutation in the ASS gene in a patient with citrullinemia. (10862106)
2000
27
Mutation analysis of Korean patients with citrullinemia. (10987146)
2000
28
An adult-onset case of argininosuccinate synthetase deficiency presenting with atypical citrullinemia. (10435367)
1999
29
Genomic structure of the adult-onset type II citrullinemia gene, SLC25A13, and cloning and expression of its mouse homologue. (10610724)
1999
30
Citrullinemia. Clinical experience with 23 cases. (9677723)
1998
31
Complete neurological recovery of an adult patient with type II citrullinemia after living related partial liver transplantation. (8970629)
1996
32
Fulminant neonatal citrullinemia complicated by subarachnoid hemorrhage. (8869548)
1996
33
Citrullinemia Type I (20301631)
1993
34
Glutamate and gamma-aminobutyric acid neurotransmitter systems in the acute phase of maple syrup urine disease and citrullinemia encephalopathies in newborn calves. (1352800)
1992
35
EEG changes during recovery from acute severe neonatal citrullinemia. (1707794)
1991
36
Adverse effects of branched chain amino acid transfusion on type-II citrullinemia--report of an adult case]. (1914326)
1991
37
Citrullinemia: early diagnosis & successful management of an otherwise lethal disorder. (2583813)
1989
38
A non-enzymatic method for identification of citrullinemia heterozygotes. (2736797)
1989
39
Adult-type citrullinemia. (2735192)
1989
40
The human argininosuccinate synthetase locus and citrullinemia. (3513483)
1986
41
The EEGs of infants with citrullinemia. (3996777)
1985
42
Prenatal diagnosis of citrullinemia: elevated levels of citrulline in the amniotic fluid in the three affected pregnancies. (6739433)
1984
43
Skin, hair and nail changes in a case of citrullinemia with late manifestation. (6724076)
1984
44
Citrulline in amniotic fluid and the prenatal diagnosis of citrullinemia. (6844264)
1983
45
Lysine intolerance in a variant form of citrullinemia. (503639)
1979
46
Citrullinemia: phenotypic variations. (934749)
1976
47
Liver morphology in a case of citrullinemia (a light and electron microscopic study). (4829820)
1974
48
Citrullinemia, report of a case, with studies on antenatal diagnosis. (4749002)
1973
49
Citrullinemia and an alternative urea cycle. (4732112)
1973
50
Citrullinemia: elevated serum citrulline levels in healthy siblings. (5451998)
1970

Genetic Variations for Citrullinemia

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Citrullinemia:

63 (show all 61)
id Symbol AA change Variation SNP ID
1ASS1p.Gly14SerVAR_000681
2ASS1p.Ser18LeuVAR_000682
3ASS1p.Arg86CysVAR_000683
4ASS1p.Ala118ThrVAR_000684
5ASS1p.Arg157HisVAR_000685
6ASS1p.Ser180AsnVAR_000686
7ASS1p.Ala192ValVAR_000687
8ASS1p.Arg272CysVAR_000688
9ASS1p.Gly280ArgVAR_000689
10ASS1p.Arg304TrpVAR_000690
11ASS1p.Gly324SerVAR_000691
12ASS1p.Arg363LeuVAR_000692
13ASS1p.Arg363TrpVAR_000693
14ASS1p.Gly390ArgVAR_000694
15ASS1p.Cys19ArgVAR_015891
16ASS1p.Arg86HisVAR_015892
17ASS1p.Arg95SerVAR_015893
18ASS1p.Pro96SerVAR_015894
19ASS1p.Gly117SerVAR_015895
20ASS1p.Gly117AspVAR_015896
21ASS1p.Arg157CysVAR_015897
22ASS1p.Trp179ArgVAR_015898rs121908646
23ASS1p.Glu191LysVAR_015899
24ASS1p.Arg265HisVAR_015900
25ASS1p.Val269MetVAR_015901
26ASS1p.Glu283LysVAR_015902
27ASS1p.Lys310ArgVAR_015903
28ASS1p.Gly362ValVAR_015904
29ASS1p.Glu270GlnVAR_016007
30ASS1p.Arg279GlnVAR_016008
31ASS1p.Lys310GlnVAR_016009
32ASS1p.Arg363GlyVAR_016010
33ASS1p.Arg363GlnVAR_016011
34ASS1p.Thr389IleVAR_016012
35ASS1p.Val69AlaVAR_016013
36ASS1p.Arg108LeuVAR_016014rs35269064
37ASS1p.Thr119IleVAR_016015
38ASS1p.Gln40LeuVAR_058337
39ASS1p.Ser79ProVAR_058338
40ASS1p.Pro96HisVAR_058339
41ASS1p.Asp124AsnVAR_058340
42ASS1p.Arg127GlnVAR_058341
43ASS1p.Arg127TrpVAR_058342
44ASS1p.Leu160ProVAR_058343
45ASS1p.Tyr190AspVAR_058344
46ASS1p.Glu191GlnVAR_058345
47ASS1p.Ala202GluVAR_058346
48ASS1p.Leu206ProVAR_058347
49ASS1p.Val263MetVAR_058348rs192838388
50ASS1p.Arg265CysVAR_058349
51ASS1p.Lys277ThrVAR_058350
52ASS1p.Thr284IleVAR_058351
53ASS1p.Tyr291SerVAR_058352
54ASS1p.Asp296GlyVAR_058353
55ASS1p.Met302ValVAR_058354
56ASS1p.Arg307CysVAR_058355rs183276875
57ASS1p.Gly324ValVAR_058356
58ASS1p.Ser341PheVAR_058357
59ASS1p.Val345GlyVAR_058358
60ASS1p.Gly347ArgVAR_058359
61ASS1p.Tyr359AspVAR_058360

Expression for genes affiliated with Citrullinemia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Citrullinemia

Search GEO for disease gene expression data for Citrullinemia.

Pathways for genes affiliated with Citrullinemia

Sources:
38NCBI BioSystems Database, 30KEGG, 54Reactome
See all sources

Compounds for genes affiliated with Citrullinemia

Sources:
45Novoseek, 24HMDB, 29IUPHAR, 11DrugBank, 50PharmGKB, 2BitterDB
See all sources

Compounds related to Citrullinemia according to GeneCards/GeneDecks:

(show all 24)
idCompoundScoreTop Affiliating Genes
1argininosuccinic acid45 2411.2ASL, ASS1
2guanidinoacetate4510.1ASL, ASS1
3delta(1)pyrroline-5-carboxylate4510.1ASS1, OTC
4n-acetylglutamate4510.1ASL, OTC
5l-citrulline29 1111.0OTC, ASS1
6sodium benzoate50 210.9ASL, ASS1, OTC
7ammonium459.8ASL, ASS1, OTC
8l-arginine29 11 2411.8ASL, ASS1
9l-ornithine29 1110.8OTC, SLC25A2
10L-Aspartic Acid11 2410.7ASS1, SLC25A12, SLC25A13
11phosphoenolpyruvate45 1110.7PC, OTC, ASS1
12malate459.7PC, OTC, ASL
13glycerol45 11 2411.5OTC, SLC25A13, PC
14nadh45 11 2411.5ASS1, SLC25A13, PC
15phenylacetic acid50 45 2411.5PC, OTC, ASS1, ASL
16carbamoyl phosphate459.5PC, OTC, ASS1, ASL
17pyruvate459.4PC, OTC, ASS1
18creatinine459.3OTC, SPINK1, ASS1, ASL
19allopurinol45 50 1111.2OTC, SLC22A7
20citrulline45 2410.2ASL, ASS1, OTC, SLC25A13, PC
21urea45 11 2411.2PC, SLC25A13, OTC, ASS1, ASL
22ornithine45 249.9ASL, ASS1, OTC, SLC25A2, PC
23aspartate458.7PC, SLC25A13, SLC25A12, OTC, ASS1, ASL
24glutamate458.7PC, SLC25A13, SLC25A12, OTC, ASS1, ASL

GO Terms for genes affiliated with Citrullinemia

Sources:
16Gene Ontology
See all sources

Cellular components related to Citrullinemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial inner membraneGO:0057437.9OTC, SLC25A2, SLC25A37, SLC25A12, SLC25A13, PC

Biological processes related to Citrullinemia according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1arginine biosynthetic processGO:00652610.0OTC, ASS1
2malate-aspartate shuttleGO:0434909.9SLC25A12, SLC25A13
3aspartate transportGO:0158109.8SLC25A12, SLC25A13
4L-glutamate transportGO:0158139.7SLC25A13, SLC25A12
5gluconeogenesisGO:0060949.5SLC25A12, SLC25A13, PC
6response to calcium ionGO:0515929.4SLC25A12, SLC25A13
7carbohydrate metabolic processGO:0059759.3SLC25A12, SLC25A13, PC
8urea cycleGO:0000509.2ASL, ASS1, OTC, SLC25A2
9glucose metabolic processGO:0060069.2SLC25A12, SLC25A13, PC
10cellular nitrogen compound metabolic processGO:0346419.2SLC25A2, OTC, ASS1, ASL
11small molecule metabolic processGO:0442817.5PC, SLC25A13, SLC25A12, SLC25A37, SLC25A2, OTC

Molecular functions related to Citrullinemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1L-glutamate transmembrane transporter activityGO:0053139.7SLC25A12, SLC25A13
2L-aspartate transmembrane transporter activityGO:0151839.4SLC25A12, SLC25A13

Products for genes affiliated with Citrullinemia

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  • Antibodies

Sources for Citrullinemia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet