MCID: CTR001
MIFTS: 59

Citrullinemia malady

Genetic diseases, Rare diseases, Metabolic diseases categories

Summaries for Citrullinemia

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NIH Rare Diseases:41 Citrullinemia type i is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. this condition, also known as classic citrullinemia, belongs to a class of genetic diseases called urea cycle disorders. in most cases, the condition becomes evident in the first few days of life. affected infants typically appear normal at birth, but as ammonia builds up in the body they experience a progressive lack of energy (lethargy), poor feeding, vomiting, seizures, and loss of consciousness. citrullinemia type i is caused by mutations in the ass1 gene. it is inherited in an autosomal recessive pattern. last updated: 4/20/2010

MalaCards based summary: Citrullinemia, also known as ass deficiency, is related to citrullinemia, adult-onset type ii and argininosuccinic aciduria, and has symptoms including stroke, autosomal recessive inheritance and irritability. An important gene associated with Citrullinemia is ASS1 (argininosuccinate synthase 1), and among its related pathways are Alanine, aspartate and glutamate metabolism and Glucose metabolism. The compounds Canavaninosuccinate and L-Aspartic acid have been mentioned in the context of this disorder. Affiliated tissues include liver, brain and testes, and related mouse phenotype renal/urinary system.

Disease Ontology:9 An urea cycle disorder that involves the accumulation of ammonia in the blood.

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.

Wikipedia:63 Citrullinemia is an autosomal recessive urea cycle disorder that causes ammonia and other toxic... more...

Description from OMIM:45 215700

GeneReviews summary for ctlm

Aliases & Classifications for Citrullinemia

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Citrullinemia, Aliases & Descriptions:

Name: Citrullinemia 45 9 10 21 43 60
Ass Deficiency 9 19 41 47
Argininosuccinate Synthetase Deficiency 19 41 47
Citrullinemia Type I 19 41 47
Argininosuccinic Acid Synthetase Deficiency 19 47
Citrullinémie Type 1 Néonatal Aigu 41 47
Acute Neonatal Citrullinemia Type 1 41 47
Acute Neonatal Citrullinemia Type I 41 47
Classic Citrullinemia Type 1 41 47
Classic Citrullinemia Type I 41 47
Classic Citrullinemia 41 47
 
Citrullinemia Type 1 47 22
Citrullinemia 1 41 20
Citrullinuria 41 21
Ctln1 19 47
Ctnl1 41 60
Argininosuccinic Acid Synthase Deficiency 47
Deficiency of Citrulline-Aspartate Ligase 9
Argininosuccinate Synthase Deficiency 47
Citrullinemia Classical 43
Citrullinemia, Classic 19
Cit 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
ass deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: All ages
citrullinémie type 1 néonatal aigu:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal


External Ids:

OMIM45 215700
Disease Ontology9 DOID:9273
MeSH33 D020159
NCIt38 C84639
Orphanet47 247525, 247546
ICD10 via Orphanet26 E72.2

Related Diseases for Citrullinemia

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Diseases in the Citrullinemia family:

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

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

(show top 50)    (show all 68)
idRelated DiseaseScoreTop Affiliating Genes
1citrullinemia, adult-onset type ii31.4SLC25A13, ASS1
2argininosuccinic aciduria30.6OTC, ASL
3reye syndrome30.6PC, OTC
4urea cycle disorder30.3ASS1, ASL
5carbamoylphosphate synthetase i deficiency30.2OTC, ASS1
6hepatitis30.1OTC, ASL
7hepatocellular carcinoma30.0ASS1, SLC25A13, OTC
8fatty liver disease29.9ASS1, PC, SLC25A13
9ornithine transcarbamylase deficiency29.9OTC, ASL, ASS1
10argininemia29.9ASS1, ASL, OTC
11liver cirrhosis29.8OTC, SLC25A13, ASS1
12citrullinemia, type ii, neonatal-onset10.5
13tremor10.5
14dementia10.4
15essential tremor10.4
16adult-onset citrullinemia type i10.4
17multiple system atrophy10.3
18dystonia10.3
19pancreatitis10.3
20hepatic encephalopathy10.1SLC25A13, ASS1
21obsessive-compulsive disorder10.1
22bipolar disorder10.1
23cerebritis10.1
24blindness10.1
25propionicacidemia10.1ASS1, OTC
26hyperlysinemia10.1OTC, PC
27multiple carboxylase deficiency10.1PC, OTC
28brain edema10.1SLC25A13, OTC
29methylmalonic acidemia10.1OTC, PC
30biliary atresia10.0OTC, SLC25A13
31galactosemia10.0OTC, SLC25A13
32cerebrotendinous xanthomatosis10.0
33gilles de la tourette syndrome10.0
34creutzfeldt-jakob disease10.0
35mantle cell lymphoma10.0
36thrombocytopenia10.0
37parametritis10.0
38cervical dystonia10.0
39olivopontocerebellar atrophy10.0
40fetal alcohol syndrome10.0
41cerebral meningioma10.0
42cerebrovascular disease10.0
43cervicitis10.0
44xanthomatosis10.0
45corticobasal degeneration10.0
46schizophrenia10.0
47pyruvate carboxylase deficiency10.0
48hypertriglyceridemia10.0
49liver disease10.0
50neutropenia10.0

Graphical network of the top 20 diseases related to Citrullinemia:



Diseases related to citrullinemia

Symptoms for Citrullinemia

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Symptoms by clinical synopsis from OMIM:

215700

Clinical features from OMIM:

215700

HPO human phenotypes related to Citrullinemia:

(show all 22)
id Description Frequency HPO Source Accession
1 stroke rare (5%) HP:0001297
2 autosomal recessive inheritance HP:0000007
3 irritability HP:0000737
4 intellectual disability HP:0001249
5 seizures HP:0001250
6 ataxia HP:0001251
7 lethargy HP:0001254
8 coma HP:0001259
9 global developmental delay HP:0001263
10 failure to thrive HP:0001508
11 respiratory alkalosis HP:0001950
12 episodic ammonia intoxication HP:0001951
13 hyperammonemia HP:0001987
14 vomiting HP:0002013
15 protein avoidance HP:0002038
16 cerebral edema HP:0002181
17 hepatomegaly HP:0002240
18 hyperglutaminemia HP:0003217
19 oroticaciduria HP:0003218
20 neonatal onset HP:0003623
21 phenotypic variability HP:0003812
22 hypoargininemia HP:0005961

Drugs & Therapeutics for Citrullinemia

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Drug clinical trials:

Search ClinicalTrials for Citrullinemia

Search NIH Clinical Center for Citrullinemia

Genetic Tests for Citrullinemia

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Genetic tests related to Citrullinemia:

id Genetic test Affiliating Genes
1 Citrullinemia Type I20 22 ASS1

Anatomical Context for Citrullinemia

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MalaCards organs/tissues related to Citrullinemia:

31
Liver, Brain, Testes, Skin

Animal Models for Citrullinemia or affiliated genes

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MGI Mouse Phenotypes related to Citrullinemia:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.9OTC, SLC25A13, ASL

Publications for Citrullinemia

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Articles related to Citrullinemia:

(show top 50)    (show all 185)
idTitleAuthorsYear
1
Three cases of adult-onset type II citrullinemia treated with different therapies: Efficacy of sodium pyruvate and low-carbohydrate diet. (23701493)
2013
2
Citrullinemia type I and hypertrophic pyloric stenosis in a 1-month old male infant. (24765495)
2013
3
A 73-year-old patient with adult-onset type II citrullinemia successfully treated by sodium pyruvate and arginine. (23369404)
2013
4
An elderly Japanese patient with adult-onset type II citrullinemia with a novel D493G mutation in the SLC25A13 gene. (22892490)
2012
5
Molecular epidemiology of citrullinemia type I in a risk region of Argentina: a first step to preconception heterozygote detection. (23430935)
2012
6
Auxiliary partial orthotopic liver transplantation for adult onset type II citrullinemia. (22066084)
2011
7
Two hypomorphic alleles of mouse Ass1 as a new animal model of citrullinemia type I and other hyperammonemic syndromes. (20724589)
2010
8
A case of adult-onset type II citrullinemia with comorbid epilepsy even after liver transplantation. (21204812)
2010
9
Citrullinemia type I: molecular screening of the ASS1 gene by exonic sequencing and targeted mutation analysis. (20690080)
2010
10
A case of adult onset type II citrullinemia with portal-systemic shunt. (19285691)
2009
11
Possible mechanism for zonisamide-induced hyperammonemia in a child with citrullinemia type 1. (19584493)
2009
12
An adult with type 2 citrullinemia presenting in Europe. (18367750)
2008
13
Adult-onset citrullinemia]. (17228780)
2007
14
Homozygous SLC25A13 mutation in a Taiwanese patient with adult-onset citrullinemia complicated with steatosis and hepatocellular carcinoma. (17000460)
2006
15
Prenatal diagnosis of citrullinemia and argininosuccinic aciduria: evidence for a transmission ratio distortion in citrullinemia. (16475226)
2006
16
Citrulline and ammonia accumulating in citrullinemia reduces antioxidant capacity of rat brain in vitro. (16773471)
2006
17
Adult onset type II citrullinemia as a cause of non-alcoholic steatohepatitis. (16278034)
2006
18
Risk of worsened encephalopathy after intravenous glycerol therapy in patients with adult-onset type II citrullinemia (CTLN2). (15805705)
2005
19
Hyperammonemia with citrullinemia. (15347874)
2004
20
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
21
Feasibility of auxiliary partial orthotopic liver transplantation from living donors for patients with adult-onset type II citrullinemia. (15048800)
2004
22
Effectiveness of carbohydrate-restricted diet and arginine granules therapy for adult-onset type II citrullinemia: a case report of siblings showing homozygous SLC25A13 mutation with and without the disease. (12787807)
2003
23
Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia. (11941481)
2002
24
Infantile citrullinemia caused by citrin deficiency with increased dibasic amino acids. (12409267)
2002
25
Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia. (11153906)
2000
26
Hepatocellular carcinoma associated with adult-type citrullinemia. (11215740)
2000
27
The first successful prenatal diagnosis on a Korean family with citrullinemia. (11211875)
2000
28
Complete neurological recovery of an adult patient with type II citrullinemia after living related partial liver transplantation. (8970629)
1996
29
Mutations in argininosuccinate synthetase mRNA in Japanese patients, causing classical citrullinemia. (7825601)
1995
30
Anesthetic management for a patient with citrullinemia and liver cirrhosis]. (7699832)
1995
31
Impaired ketogenesis in patients with adult-type citrullinemia. (7926463)
1994
32
Mutations in argininosuccinate synthetase mRNA of Japanese patients, causing classical citrullinemia. (7977368)
1994
33
Management of neonatal citrullinemia. (8292188)
1993
34
Citrullinemia and transposition of the great arteries. (8288339)
1993
35
Citrullinemia Type I (20301631)
1993
36
A search for the primary abnormality in adult-onset type II citrullinemia. (8105687)
1993
37
A case of citrullinemia associated with isolated ACTH deficiency, rapidly developing coma]. (1337025)
1992
38
Molecular basis of enzyme abnormalities in urea cycle disorders. With special reference to citrullinemia and argininosuccinic aciduria. (3440446)
1987
39
Increased urinary excretion of argininosuccinate in type II citrullinemia. (3436063)
1987
40
Pili torti in association with citrullinemia. (3973120)
1985
41
A case of transient neonatal citrullinemia. (6641770)
1983
42
Citrulline in amniotic fluid and the prenatal diagnosis of citrullinemia. (6844264)
1983
43
Citrullinemia: prenatal diagnosis of an affected fetus. (6823975)
1983
44
Diurnal fluctuation of blood ammonia levels in adult-type citrullinemia. (7202267)
1982
45
Variation in argininosuccinate synthetase activity in amniotic fluid cell cultures: implications for prenatal diagnosis of citrullinemia. (7318168)
1981
46
Lysine intolerance in a variant form of citrullinemia. (503639)
1979
47
Citrullinemia: enzymatic evidence for genetic heterogeneity. (1161343)
1975
48
Liver morphology in a case of citrullinemia (a light and electron microscopic study). (4829820)
1974
49
Citrullinemia. (5641790)
1968
50
Citrullinemia. A preliminary case report. (6015894)
1967

Variations for Citrullinemia

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UniProtKB/Swiss-Prot 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

Clinvar genetic disease variations for Citrullinemia:

6 (show all 17)
id Gene Variation Type Significance SNP ID Assembly Location
1ASS1ASS1, EX5DELdeletionPathogenic
2ASS1ASS1, EX6DELdeletionPathogenic
3ASS1ASS1, IVS6AS, A-G, -2deletionPathogenic
4ASS1NM_000050.4(ASS1): c.40G> A (p.Gly14Ser)single nucleotide variantPathogenicrs121908636GRCh37Chr 9, 133327655: 133327655
5ASS1NM_000050.4(ASS1): c.470G> A (p.Arg157His)single nucleotide variantPathogenicrs121908637GRCh37Chr 9, 133342161: 133342161
6ASS1NM_000050.4(ASS1): c.539G> A (p.Ser180Asn)single nucleotide variantPathogenicrs121908638GRCh37Chr 9, 133346264: 133346264
7ASS1NM_000050.4(ASS1): c.970G> A (p.Gly324Ser)single nucleotide variantPathogenicrs121908639GRCh37Chr 9, 133364851: 133364851
8ASS1NM_000050.4(ASS1): c.1087C> T (p.Arg363Trp)single nucleotide variantPathogenicrs121908640GRCh37Chr 9, 133370370: 133370370
9ASS1NM_000050.4(ASS1): c.1168G> A (p.Gly390Arg)single nucleotide variantPathogenicrs121908641GRCh37Chr 9, 133374932: 133374932
10ASS1NM_000050.4(ASS1): c.910C> T (p.Arg304Trp)single nucleotide variantPathogenicrs121908642GRCh37Chr 9, 133364791: 133364791
11ASS1NM_000050.4(ASS1): c.53C> T (p.Ser18Leu)single nucleotide variantPathogenicrs121908643GRCh37Chr 9, 133327668: 133327668
12ASS1NM_000050.4(ASS1): c.256C> T (p.Arg86Cys)single nucleotide variantPathogenicrs121908644GRCh37Chr 9, 133333869: 133333869
13ASS1NM_000050.4(ASS1): c.835C> T (p.Arg279Ter)single nucleotide variantPathogenicrs121908645GRCh37Chr 9, 133355833: 133355833
14ASS1NM_000050.4(ASS1): c.323G> T (p.Arg108Leu)single nucleotide variantPathogenicrs35269064GRCh37Chr 9, 133333936: 133333936
15ASS1ASS1, IVS6, G-A, +5single nucleotide variantPathogenic
16ASS1ASS1, IVS15, G-C, -1single nucleotide variantPathogenic
17ASS1NM_000050.4(ASS1): c.928A> C (p.Lys310Gln)single nucleotide variantPathogenicrs121908648GRCh37Chr 9, 133364809: 133364809

Expression for genes affiliated with Citrullinemia

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Search GEO for disease gene expression data for Citrullinemia.

Pathways for genes affiliated with Citrullinemia

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Pathways related to Citrullinemia according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5ASL, ASS1
2
Show member pathways
malate-aspartate shuttle36
glycogen biosynthesis II (from UDP-D-Glucose)36
9.2SLC25A13, PC
3
Show member pathways
creatine-phosphate biosynthesis36
glycine degradation (creatine biosynthesis)36
putrescine biosynthesis III36
spermidine biosynthesis I36
tryptophan degradation via kynurenine36
spermine biosynthesis36
urea cycle36
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I36
tyrosine degradation I36
L-carnitine biosynthesis36
methylthiopropionate biosynthesis36
2-oxoglutarate decarboxylation to succinyl-CoA36
S-methyl-5-thioadenosine degradation II36
8.9ASS1, ASL, OTC
4
Show member pathways
citrulline-nitric oxide cycle36
arginine degradation I (arginase pathway)36
proline degradation36
glutamine degradation I36
proline biosynthesis I36
superpathway of citrulline metabolism36
proline biosynthesis II (from arginine)36
citrulline biosynthesis36
arginine degradation VI (arginase 2 pathway)36
Urea cycle and metabolism of amino groups36
asparagine biosynthesis I36
4-hydroxyproline degradation I36
citrulline degradation36
8.9ASS1, ASL, OTC
5
Show member pathways
glutamate biosynthesis II36
arginine biosynthesis IV36
8.9OTC, ASL, ASS1
68.7ASS1, ASL, PC
7
Show member pathways
L-serine degradation36
pentose phosphate pathway (oxidative branch)36
formaldehyde oxidation II (glutathione-dependent)36
8.1OTC, PC, ASL, ASS1
8
Show member pathways
7.6OTC, SLC25A13, PC, ASL, ASS1

Compounds for genes affiliated with Citrullinemia

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Sources:
24HMDB, 12DrugBank, 43Novoseek, 28IUPHAR, 49PharmGKB, 2BitterDB
See all sources

Compounds related to Citrullinemia according to GeneCards Suite gene sharing:

(show all 36)
idCompoundScoreTop Affiliating Genes
1Canavaninosuccinate249.9ASL, ASS1
2L-Aspartic acid24 1210.9SLC25A13, ASS1
3argininosuccinic acid43 2410.9ASS1, ASL
4guanidinoacetate439.9ASS1, ASL
5l-arginine28 24 1211.8ASL, ASS1
6sodium phenylbutyrate499.8OTC, ASS1
7delta(1)pyrroline-5-carboxylate439.8ASS1, OTC
8l-citrulline28 1210.8OTC, ASS1
9n-acetylglutamate439.7OTC, ASL
10allopurinol43 49 1211.6SLC22A7, OTC
11valproic acid43 49 24 1212.4SLC22A7, OTC
12sodium benzoate49 210.3OTC, ASL, ASS1
13ammonium439.3OTC, ASL, ASS1
14glucose 6-phosphate43 2410.3SLC22A7, PC
15carnitine439.2OTC, PC
16acyl-coa439.2PC, OTC
17creatinine439.1ASS1, ASL, OTC
18nadh43 24 1211.1SLC25A13, PC, ASS1
19phosphoenolpyruvate43 1210.0OTC, PC, ASS1
20pyruvate438.9OTC, PC, ASS1
21arginine438.9OTC, ASL, ASS1
22glycerol43 24 1210.9PC, SLC25A13, OTC
23malate438.9ASL, PC, OTC
24dexamethasone43 49 28 1211.8PC, ASL, ASS1
25citrate438.8PC, ASL
26nitric oxide43 24 1210.8ASS1, ASL, OTC
27fatty acid438.8OTC, SLC25A13, PC
28glutamine438.8ASL, PC, OTC
29atp43 289.6OTC, PC, ASS1
30phenylacetic acid49 43 2410.5ASS1, ASL, PC, OTC
31carbamoyl phosphate438.5OTC, PC, ASL, ASS1
32ornithine43 249.5ASS1, ASL, PC, OTC
33citrulline43 249.1OTC, SLC25A13, PC, ASL, ASS1
34urea43 24 1210.0ASS1, ASL, PC, SLC25A13, OTC
35aspartate438.0ASS1, ASL, PC, SLC25A13, OTC
36glutamate438.0ASS1, ASL, PC, SLC25A13, OTC

GO Terms for genes affiliated with Citrullinemia

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Cellular components related to Citrullinemia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrionGO:00057398.6OTC, SLC25A13, PC
2mitochondrial inner membraneGO:00057438.3OTC, SLC25A13, PC

Biological processes related to Citrullinemia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1arginine biosynthetic processGO:00065269.5OTC, ASS1
2glucose metabolic processGO:00060069.2SLC25A13, PC
3urea cycleGO:00000509.0OTC, ASL, ASS1
4gluconeogenesisGO:00060948.9SLC25A13, PC
5cellular nitrogen compound metabolic processGO:00346418.8OTC, ASL, ASS1
6small molecule metabolic processGO:00442817.6ASS1, ASL, PC, SLC25A13, OTC

Products for genes affiliated with Citrullinemia

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  • Antibodies
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Sources for Citrullinemia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet