CIT
MCID: CTR001
MIFTS: 61

Citrullinemia (CIT) malady

Metabolic diseases category

Summaries for Citrullinemia

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8Disease Ontology, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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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 citrin deficiency. 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 liver, brain and testes, 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:63 Citrullinemia is an autosomal recessive urea cycle disorder that causes ammonia and other toxic... more...

Description from OMIM:46 215700

Aliases & Classifications for Citrullinemia

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8Disease Ontology, 9diseasecard, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 56SNOMED-CT, 34MeSH, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases


Characteristics (Orphanet epidemiological data):

48
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 46 44 48 60
ass deficiency 8 48
citrullinuria 8 21
argininosuccinic acid synthetase deficiency 48
deficiency of citrulline-aspartate ligase 8
argininosuccinic acid synthase deficiency 48
argininosuccinate synthetase deficiency 48
argininosuccinate synthase deficiency 48
classic citrullinemia 48
citrullinemia type 1 48
citrullinemia type i 48
ctln1 48
cit 21


External Ids:

Disease Ontology8 DOID:9273
MeSH34 D020159
NCIt39 C84639
OMIM46 215700
MESH via Orphanet35 D020159
ICD10 via Orphanet26 E72.2
SNOMED-CT via Orphanet57 398680004, 124711003
UMLS via Orphanet61 C0175683

Related Diseases for Citrullinemia

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Citrullinemia family:

Citrullinemia Type I Adult-Onset Citrullinemia Type Ii
Adult-Onset Citrullinemia Type I

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

(show top 50)    (show all 83)
idRelated DiseaseScoreTop Affiliating Genes
1adult-onset citrullinemia type ii30.9SLC25A13, ASS1
2citrin deficiency30.3SLC25A13
3reye syndrome30.3OTC, PC
4argininosuccinic aciduria30.3OTC, ASL
5hepatitis30.1ASL, OTC
6brain disease30.0OTC, SLC25A13, PC
7ornithine carbamoyltransferase deficiency29.8OTC
8urea cycle disorder29.8ASL, ASS1
9carbamoyl phosphate synthetase i deficiency disease29.8OTC, ASS1
10hyperargininemia29.8ASL, ASS1, OTC
11liver cirrhosis29.8SLC25A13, OTC, ASS1
12fatty liver disease29.8PC, SLC25A13, ASS1
13parkinson's disease10.6
14citrullinemia type i10.6
15dementia10.3
16lewy body dementia10.3
17schizophrenia10.3
18complement deficiency10.3
19acute myeloid leukemia with t(8;21)(q22;q22) translocation10.3
20neonatal intrahepatic cholestasis caused by citrin deficiency10.3
21essential tremor10.3
22acute neonatal citrullinemia type i10.3
23adult-onset citrullinemia type i10.3
24pancreatitis10.2
25multiple system atrophy10.2
26hepatocellular carcinoma10.2
27neuronitis10.1
28progressive supranuclear palsy10.1
29bipolar disorder10.1
30meningioma10.1
31cerebritis10.0
32obsessive-compulsive disorder10.0
33down syndrome10.0
34myotonic dystrophy10.0
35neuropathy10.0
36vascular disease10.0
37image syndrome10.0
38propionic acidemia10.0OTC, ASS1
39cholestasis10.0SLC25A13
40ornithine translocase deficiency10.0OTC, SLC25A2
41intrahepatic cholestasis10.0SLC25A13, SLC25A37
42orotic aciduria10.0ASL, ASS1, OTC
43hyperlysinemia10.0PC, OTC
44lysinuric protein intolerance10.0OTC, ASS1, ASL
45brain edema10.0OTC, SLC25A13
46hepatic encephalopathy10.0SLC25A13, ASS1
47multiple carboxylase deficiency10.0OTC, PC
48methylmalonic acidemia10.0PC, OTC
49galactosemia10.0OTC, SLC25A13
50metabolic syndrome x10.0PC, SLC25A13, OTC, ASS1

Graphical network of the top 20 diseases related to Citrullinemia:



Diseases related to citrullinemia

Clinical Features for Citrullinemia

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46OMIM
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Clinical features from OMIM:

215700

Clinical synopsis from OMIM:

215700

Drugs & Therapeutics for Citrullinemia

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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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

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Anatomical Context for Citrullinemia

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32MalaCards
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MalaCards organs/tissues related to Citrullinemia:

32
Liver, Brain, Testes, Skin

Animal Models for Citrullinemia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Citrullinemia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.3SLC25A37, OTC, SPINK1, ASS1, ASL
2MP:00107687.9SLC25A13, SLC25A12, SLC25A37, OTC, SPINK1, ASS1

Publications for Citrullinemia

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Sources:
50PubMed
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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
Liver-directed adeno-associated virus serotype 8 gene transfer rescues a lethal murine model of citrullinemia type 1. (24131980)
2013
3
Mutation spectrum of the ASS1 gene in Korean patients with citrullinemia type I. (23099195)
2013
4
First two cases of adult-onset type II citrullinemia successfully treated by deceased-donor liver transplantation in Japan. (22882336)
2012
5
Auxiliary partial orthotopic liver transplantation for adult onset type II citrullinemia. (22066084)
2011
6
Two hypomorphic alleles of mouse Ass1 as a new animal model of citrullinemia type I and other hyperammonemic syndromes. (20724589)
2010
7
A case of adult-onset type II citrullinemia with repeated nonconvulsive status epilepticus]. (19928687)
2009
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
Magnetic resonance spectroscopy in adult-onset citrullinemia: elevated glutamine levels in comatose patients. (17620496)
2007
11
Homozygous SLC25A13 mutation in a Taiwanese patient with adult-onset citrullinemia complicated with steatosis and hepatocellular carcinoma. (17000460)
2006
12
Prenatal diagnosis of citrullinemia and argininosuccinic aciduria: evidence for a transmission ratio distortion in citrullinemia. (16475226)
2006
13
Citrulline and ammonia accumulating in citrullinemia reduces antioxidant capacity of rat brain in vitro. (16773471)
2006
14
Adult onset type II citrullinemia as a cause of non-alcoholic steatohepatitis. (16278034)
2006
15
Characterization of late-onset citrullinemia 1 in a Korean patient: confirmation by argininosuccinate synthetase gene mutation analysis. (16889683)
2006
16
MRI of adult-onset type II citrullinemia. (15942114)
2005
17
Slc25a13-knockout mice harbor metabolic deficits but fail to display hallmarks of adult-onset type II citrullinemia. (14701727)
2004
18
A neonatal case of citrullinemia with urolithiasis. (15573861)
2004
19
Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type 1). (14680976)
2003
20
Application of mutation analysis for the previously uncertain cases of adult-onset type II citrullinemia (CTLN2) and their clinical profiles. (12512993)
2002
21
Citrullinemia type II in a 64-year-old man with fluctuating serum citrulline levels. (11137523)
2001
22
Possible clinical and histologic manifestations of adult-onset type II citrullinemia in early infancy. (11343053)
2001
23
Phenotype and genotype heterogeneity in Mediterranean citrullinemia. (11708871)
2001
24
MRI in a case of adult-onset citrullinemia. (11688701)
2001
25
Adult-onset type II citrullinemia: clinical pictures before and after liver transplantation. (9213187)
1997
26
Mutations in argininosuccinate synthetase mRNA in Japanese patients, causing classical citrullinemia. (7825601)
1995
27
Anesthetic management for a patient with citrullinemia and liver cirrhosis]. (7699832)
1995
28
Type II citrullinemia associated with neutropenia. (7496085)
1995
29
Mutations in argininosuccinate synthetase mRNA of Japanese patients, causing classical citrullinemia. (7977368)
1994
30
Citrullinemia Type I (20301631)
1993
31
A search for the primary abnormality in adult-onset type II citrullinemia. (8105687)
1993
32
Prospective management of a child with neonatal citrullinemia. (8419623)
1993
33
Type II citrullinemia triggered by acetaminophen]. (8217412)
1993
34
Low incidence of citrullinemia carriers among dairy cattle of the United States. (8463494)
1993
35
A case of citrullinemia associated with isolated ACTH deficiency, rapidly developing coma]. (1337025)
1992
36
A case of citrullinemia with abnormal messenger RNA for argininosuccinate synthetase. (1799125)
1991
37
A non-enzymatic method for identification of citrullinemia heterozygotes. (2736797)
1989
38
Detection of kinetically abnormal argininosuccinate synthase in neonatal citrullinemia by conversion of citrulline to arginine in intact fibroblasts. (2791302)
1989
39
Clinical application of enzyme immunoassay in the analysis of citrullinemia. (3297428)
1987
40
Messenger RNA coding for argininosuccinate synthetase in citrullinemia. (3459354)
1986
41
The human argininosuccinate synthetase locus and citrullinemia. (3513483)
1986
42
The EEGs of infants with citrullinemia. (3996777)
1985
43
Papilledema in late-onset citrullinemia. (6696036)
1984
44
Citrullinemia: prenatal diagnosis of an affected fetus. (6823975)
1983
45
Enzymatic analysis of citrullinemia (12 cases) in Japan. (7164923)
1982
46
Lysine intolerance in a variant form of citrullinemia. (503639)
1979
47
A variant form of citrullinemia. (1271146)
1976
48
Citrullinemia: investigation and treatment over a four-year period. (4842795)
1974
49
Citrullinemia and an alternative urea cycle. (4732112)
1973
50
Citrullinemia with defective urea production. (6051056)
1967

Genetic Variations for Citrullinemia

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Citrullinemia:

62 (show all 61)
id Symbol AA change Variation ID 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

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

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37NCBI BioSystems Database, 29KEGG, 53Reactome
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Compounds for genes affiliated with Citrullinemia

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44Novoseek, 24HMDB, 28IUPHAR, 11DrugBank, 49PharmGKB, 2BitterDB
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Compounds related to Citrullinemia according to GeneCards/GeneDecks:

(show all 24)
idCompoundScoreTop Affiliating Genes
1argininosuccinic acid44 2411.2ASL, ASS1
2guanidinoacetate4410.1ASL, ASS1
3delta(1)pyrroline-5-carboxylate4410.1ASS1, OTC
4n-acetylglutamate4410.1ASL, OTC
5l-citrulline28 1111.0OTC, ASS1
6sodium benzoate49 210.9ASL, ASS1, OTC
7ammonium449.8ASL, ASS1, OTC
8l-arginine28 11 2411.8ASL, ASS1
9l-ornithine28 1110.8OTC, SLC25A2
10L-Aspartic Acid11 2410.7ASS1, SLC25A12, SLC25A13
11phosphoenolpyruvate44 1110.7PC, OTC, ASS1
12malate449.7PC, OTC, ASL
13glycerol44 11 2411.5OTC, SLC25A13, PC
14nadh44 11 2411.5ASS1, SLC25A13, PC
15phenylacetic acid49 44 2411.5PC, OTC, ASS1, ASL
16carbamoyl phosphate449.5PC, OTC, ASS1, ASL
17pyruvate449.4PC, OTC, ASS1
18creatinine449.3OTC, SPINK1, ASS1, ASL
19allopurinol44 49 1111.2OTC, SLC22A7
20citrulline44 2410.2ASL, ASS1, OTC, SLC25A13, PC
21urea44 11 2411.2PC, SLC25A13, OTC, ASS1, ASL
22ornithine44 249.9ASL, ASS1, OTC, SLC25A2, PC
23aspartate448.7PC, SLC25A13, SLC25A12, OTC, ASS1, ASL
24glutamate448.7PC, SLC25A13, SLC25A12, OTC, ASS1, ASL

GO Terms for genes affiliated with Citrullinemia

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16Gene Ontology
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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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Sources for Citrullinemia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet