MCID: CTR001
MIFTS: 60

Citrullinemia malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Citrullinemia

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Aliases & Descriptions for Citrullinemia:

Name: Citrullinemia 49 10 11 23 47 12 36 65
Ass Deficiency 10 21 45 22 51 67
Argininosuccinate Synthetase Deficiency 21 45 22 51 67
Citrullinemia Type I 21 45 22 51 67
Ctln1 21 22 51 67
Argininosuccinic Acid Synthetase Deficiency 21 22 51
Classic Citrullinemia 45 51 67
Citrullinuria 45 23 67
Citrullinemia, Classic 21 22
 
Citrullinemia Type 1 51 24
Citrullinemia 1 45 67
Ctnl1 45 65
Cit 23 2
Argininosuccinic Acid Synthase Deficiency 51
Deficiency of Citrulline-Aspartate Ligase 10
Argininosuccinate Synthase Deficiency 51
Classical Citrullinemia 22
Citrullinemia Classical 47

Characteristics:

Orphanet epidemiological data:

51
ass deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: All ages

HPO:

61
citrullinemia:
Onset and clinical course: phenotypic variability, neonatal onset
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 215700
Disease Ontology10 DOID:9273
ICD1027 E72.23
MeSH36 D020159
NCIt42 C84639
Orphanet51 247525
ICD10 via Orphanet28 E72.2
MedGen34 C0175683
UMLS65 C0175683, C2931851

Summaries for Citrullinemia

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CDC:2 The Countermeasure Inventory Tracking (CIT) Dashboard is a national system used by federal and state emergency response authorities, which provides the ability to track the availability of critical medical and non-medical countermeasures within the commercial drug sector as well as state public health agencies during public health emergencies. By receiving timely data on inventory and distribution of key pharmaceuticals and medical supplies, CDC will be better prepared to ensure that critical countermeasures reach vulnerable populations during an emergency. Voluntary participation of pharmaceutical and medical equipment suppliers is essential to successful planning for events that may impact our national future.

MalaCards based summary: Citrullinemia, also known as ass deficiency, is related to citrullinemia, type ii, neonatal-onset and carbamoylphosphate synthetase i deficiency, and has symptoms including stroke, hypoargininemia and oroticaciduria. An important gene associated with Citrullinemia is ASS1 (Argininosuccinate Synthase 1), and among its related pathways are Alanine, aspartate and glutamate metabolism and Arginine biosynthesis. Affiliated tissues include liver, bone and prostate, and related mouse phenotypes are renal/urinary system and liver/biliary system.

Disease Ontology:10 An urea cycle disorder that involves the accumulation of ammonia in the blood.

Genetics Home Reference:23 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.

NIH Rare Diseases:45 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

UniProtKB/Swiss-Prot:67 Citrullinemia 1: The classic form of citrullinemia, an autosomal recessive disease characterized primarily by elevated serum and urine citrulline levels. Ammonia intoxication is another manifestation. It is a disorder of the urea cycle, usually manifesting in the first few days of life. Affected infants appear normal at birth, but as ammonia builds up in the body they present symptoms such as lethargy, poor feeding, vomiting, seizures and loss of consciousness. Less commonly, a milder form can develop later in childhood or adulthood.

Wikipedia:68 Citrullinemia is an autosomal recessive urea cycle disorder that causes ammonia and other toxic... more...

Description from OMIM:49 215700

GeneReviews summary for NBK1458

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 53)
idRelated DiseaseScoreTop Affiliating Genes
1citrullinemia, type ii, neonatal-onset33.8ASS1, SLC25A13
2carbamoylphosphate synthetase i deficiency29.7ASS1, OTC
3citrullinemia, adult-onset type ii12.3
4acute neonatal citrullinemia type i12.0
5adult-onset citrullinemia type i12.0
6argininosuccinic aciduria11.5
7neonatal intrahepatic cholestasis due to citrin deficiency10.9
8aceruloplasminemia10.1ACADS, SLC25A13
9y-linked disease10.1ASS1, SLC25A13
10pancreatitis10.1
11long qt syndrome 610.0PC, SLC25A13
12hepatocellular carcinoma10.0
13hyperammonemia10.0
14hepatitis9.9
15encephalopathy9.9
16argininemia9.9
17ornithine transcarbamylase deficiency9.9
18external pathological resorption9.9ASS1, OTC
19hyperleucine-isoleucinemia9.8ASL, OTC
20saccharopinuria9.8OTC, PC
21schizophrenia9.8
22pyruvate carboxylase deficiency9.8
23hypertriglyceridemia9.8
24liver cirrhosis9.8
25liver disease9.8
26neutropenia9.8
27somatostatinoma9.8
28urea cycle disorder9.8
29hypertrophic pyloric stenosis9.8
30pyloric stenosis9.8
31papilledema9.8
32status epilepticus9.8
33duodenitis9.8
34fatty liver disease9.8
35encephalitis9.8
36nonalcoholic steatohepatitis9.8
37pili torti9.8
38transposition of the great arteries9.8
39acth deficiency9.8
40postpartum psychosis9.8
41lichen nitidus9.7OTC, PC
42usher syndrome, type 1g9.7OTC, SLC25A13
43fbxl4-related mitochondrial dna depletion syndrome, encephalomyopathic form9.6ACADS, PPARA, SLC25A13
44propionicacidemia9.6ASS1, OTC, SLC25A13
45vasomotor rhinitis9.6OTC, SLC25A13
46maple syrup urine disease, type ii9.5ACADS, OTC
47shwachman-diamond syndrome9.5ASL, ASS1, OTC
48orotic aciduria9.5ASL, ASS1, OTC
49lymphangioma9.3OTC, PC
50mental retardation, x-linked, syndromic 179.2ASL, ASS1, OTC, SLC25A13

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

UMLS symptoms related to Citrullinemia:


vomiting, seizures, lethargy, hepatomegaly, ataxia

Drugs & Therapeutics for Citrullinemia

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Drugs for Citrullinemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 15)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Acetohydroxamic AcidapprovedPhase 1, Phase 21546-88-31990
Synonyms:
00507_FLUKA
159034_ALDRICH
546-88-3
A0051
AC1L1COH
AC1Q1L7G
AHA
AI3-62232
AKOS000172340
Acetamide, N-hydroxy- (9CI)
Acethydroxamic acid
Acethydroxamsaeure
Acethydroxamsaeure [German]
Acethydroxamsaure
Acetic acid, oxime
Acetohydroxamate
Acetohydroxamic acid
Acetohydroxamic acid (USP/INN)
Acetohydroxamic acid [USAN:INN]
Acetohydroximic acid
Acetyl hydroxyamino
Acetylhydroxamic acid
Acide acetohydroxamique
Acide acetohydroxamique [French]
Acido acetohidroxamico
Acido acetohidroxamico [Spanish]
Acidum acetohydroxamicum
Acidum acetohydroxamicum [Latin]
BSPBio_001790
C06808
CCRIS 1730
CHEBI:27777
CHEBI:49029
CHEMBL734
CID1990
Cetohyroxamic acid
D00220
DB00551
DivK1c_000821
EINECS 208-913-8
HAE
HMS1920A07
HMS2091G07
 
HMS502J03
HSDB 3585
I08-0057
IDI1_000821
KBio1_000821
KBio2_000360
KBio2_002928
KBio2_005496
KBio3_001290
KBioGR_000556
KBioSS_000360
LS-13067
Lithostat
Lithostat (TN)
MLS001076662
Methylhydroxamic acid
MolPort-001-769-610
N-Acetyl hydroxyacetamide
N-Acetylhydroxylamine
N-Hydroxyacetamide
N-hydroxyacetimidic acid
N-hydroxyethanimidic acid
NCGC00094576-01
NCGC00094576-02
NCGC00094576-03
NINDS_000821
NSC 176136
NSC176136
NSC5073
Prestwick_38
S14-0751
SMR000499570
SPBio_000098
SPECTRUM1500103
Spectrum2_000109
Spectrum3_000285
Spectrum4_000138
Spectrum5_000812
Spectrum_000020
UNII-4RZ82L2GY5
WLN: QMV1
ZINC04658603
acetohydroxamic acid
cetohyroxamic acid
sJX`HLdmMAH`
2
Ornithineapproved, nutraceuticalPhase 2, Phase 16370-26-86262
Synonyms:
(+)-S-Ornithine
(S)-2,5-Diaminopentanoate
(S)-2,5-Diaminopentanoic acid
(S)-2,5-diaminovaleric acid
(S)-Ornithine
(S)-a,D-Diaminovalerate
 
(S)-a,D-Diaminovaleric acid
(S)-alpha,delta-Diaminovaleric acid
(S)-ornithine
(S)-α,δ-diaminovaleric acid
5-Amino-L-Norvaline
L-(-)-Ornithine
L-Ornithine
3Liver ExtractsPhase 2, Phase 13572
4
Nitric Oxideapproved56410102-43-9145068
Synonyms:
(.)NO
(NO)(.)
10102-43-9
14332-28-6
295566_ALDRICH
51005-20-0
51005-21-1
53851-19-7
90452-29-2
AC1L1ADQ
AC1L3QHF
AC1Q6QZ0
AR-1K7463
Bioxyde d'azote
Bioxyde d'azote [French]
C00533
CCRIS 4319
CHEMBL1200689
CHEMBL1234765
CID145068
CID945
D00074
D009569
DB00435
EDRF
EINECS 233-271-0
Endogenous Nitrate Vasodilator
Endothelium-Derived Nitric Oxide
HNO
HSDB 1246
INOmax
INOmax (TN)
Inomax
LS-192158
LS-7547
MolPort-003-929-452
Mononitrogen monoxide
Monoxide, Mononitrogen
Monoxide, Nitrogen
Monoxido de nitrogeno
Monoxyde d'azote
NITRIC-OXIDE
NO
NO(.)
Nitrate Vasodilator, Endogenous
Nitric Oxide, Endothelium Derived
 
Nitric Oxide, Endothelium-Derived
Nitric oxide
Nitric oxide (JAN)
Nitric oxide 10% by volume or more
Nitric oxide trimer
Nitric oxide, compressed [UN1660] [Poison gas]
Nitric oxide, compressed [UN1660] [Poison gas]
Nitrogen monoxide
Nitrogen oxide
Nitrogen oxide (NO)
Nitrogen protoxide
Nitrosyl
Nitrosyl hydride
Nitrosyl hydride ((NO)H)
Nitrosyl radical
Nitroxide radical
Nitroxyl
OHM 11771
Oxide, Nitric
Oxido de nitrogeno(ii)
Oxido nitrico
Oxyde azotique
Oxyde nitrique
Oxyde nitrique [French]
RCRA waste no. P076
Stickmonoxyd
Stickmonoxyd [German]
Stickstoff(II)-oxid
Stickstoff(ii)-oxid
Stickstoffmonoxid
UN 1660
UN1660
UNII-31C4KY9ESH
Vasodilator, Endogenous Nitrate
[NO]
endothelium-derived relaxing factor
monoxido de nitrogeno
monoxyde d'azote
nitric oxide
nitrogen monooxide
nitrogen monoxide
nitrosyl
oxido de nitrogeno(II)
oxido nitrico
oxidonitrogen(.)
oxoazanyl
oxyde azotique
5Peripheral Nervous System Agents18510
6Vasodilator Agents2926
7Respiratory System Agents3931
8Protective Agents5651
9Endothelium-Dependent Relaxing Factors225
10Anti-Asthmatic Agents2796
11Antioxidants2442
12Neurotransmitter Agents14795
13Bronchodilator Agents2377
14Vaccines6085
15arginineNutraceutical364

Interventional clinical trials:

idNameStatusNCT IDPhase
1Human Heterologous Liver Cells for Infusion in Children With Urea Cycle DisordersCompletedNCT00718627Phase 2
2Pilot Study For Hypothermia Treatment In Hyperammonemic Encephalopathy In Neonates And Very Young InfantsCompletedNCT01624311Phase 2
3Urease Inhibitor Drug Treatment for Urea Cycle DisordersNot yet recruitingNCT02670889Phase 1, Phase 2
4Hepatocyte Transplantation for Liver Based Metabolic DisordersSuspendedNCT01345578Phase 1
5Nitric Oxide Flux and Ureagenesis in Argininosuccinate Synthetase Deficiency (ASSD)(Citrullinemia I)CompletedNCT01610089
6Microcirculation During Extracorporeal CirculationCompletedNCT01389947
7Citrulline Allo. Evaluation of Citrullinemia as a Marker of Bowel Damage After Allogeneic Bone Marrow Transplantation in ChildrenRecruitingNCT00751452
8The NIH UNI Study: Urea Cycle Disorders, Nutrition and ImmunityTerminatedNCT01421888

Search NIH Clinical Center for Citrullinemia


Cochrane evidence based reviews: citrullinemia

Genetic Tests for Citrullinemia

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Genetic tests related to Citrullinemia:

id Genetic test Affiliating Genes
1 Citrullinemia Type I22 ASS1

Anatomical Context for Citrullinemia

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MalaCards organs/tissues related to Citrullinemia:

33
Liver, Bone, Prostate, Brain, Endothelial, Lung, Breast

Animal Models for Citrullinemia or affiliated genes

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MGI Mouse Phenotypes related to Citrullinemia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.6ACADS, ASL, OTC, SLC25A13
2MP:00053708.5ACADS, OTC, PPARA, SLC25A13
3MP:00053868.1ACADS, ASL, ASS1, OTC, PC
4MP:00107718.0ACADS, ASL, ASS1, OTC, PPARA
5MP:00107686.7ACADS, ASL, ASS1, OTC, PC, PPARA
6MP:00053766.4ACADS, ASL, ASS1, OTC, PC, PPARA

Publications for Citrullinemia

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Articles related to Citrullinemia:

(show top 50)    (show all 191)
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
Pili torti in association with citrullinemia. (3973120)
1985
40
A case of transient neonatal citrullinemia. (6641770)
1983
41
Citrulline in amniotic fluid and the prenatal diagnosis of citrullinemia. (6844264)
1983
42
Citrullinemia: prenatal diagnosis of an affected fetus. (6823975)
1983
43
Diurnal fluctuation of blood ammonia levels in adult-type citrullinemia. (7202267)
1982
44
Variation in argininosuccinate synthetase activity in amniotic fluid cell cultures: implications for prenatal diagnosis of citrullinemia. (7318168)
1981
45
Lysine intolerance in a variant form of citrullinemia. (503639)
1979
46
Liver morphology in a case of citrullinemia (a light and electron microscopic study). (4829820)
1974
47
Citrullinemia. (5641790)
1968
48
Citrullinemia. A preliminary case report. (6015894)
1967
49
50

Variations for Citrullinemia

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UniProtKB/Swiss-Prot genetic disease variations for Citrullinemia:

67 (show all 62)
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
62ASS1p.Val141GlyVAR_072792

Clinvar genetic disease variations for Citrullinemia:

5 (show all 29)
id Gene Variation Type Significance SNP ID Assembly Location
1ASS1NM_000050.4(ASS1): c.1194-1G> Csingle nucleotide variantLikely pathogenic, Pathogenicrs727503814GRCh37Chr 9, 133376362: 133376362
2ASS1NM_000050.4(ASS1): c.1138C> T (p.Gln380Ter)single nucleotide variantLikely pathogenicrs786204460GRCh37Chr 9, 133374902: 133374902
3ASS1NM_000050.4(ASS1): c.892delG (p.Glu298Argfs)deletionLikely pathogenicrs770362721GRCh37Chr 9, 133364773: 133364773
4ASS1NM_000050.4(ASS1): c.1030C> T (p.Arg344Ter)single nucleotide variantLikely pathogenic, Pathogenicrs786204537GRCh37Chr 9, 133370313: 133370313
5ASS1NM_000050.4(ASS1): c.450_451delCT (p.Phe150Leufs)deletionLikely pathogenicrs786204648GRCh38Chr 9, 130466754: 130466755
6ASS1NM_000050.4(ASS1): c.421-2A> Gsingle nucleotide variantPathogenicrs751930594GRCh37Chr 9, 133342110: 133342110
7ASS1NM_000050.4(ASS1): c.571G> A (p.Glu191Lys)single nucleotide variantPathogenicrs777828000GRCh37Chr 9, 133346876: 133346876
8ASS1ASS1, EX5DELdeletionPathogenic
9ASS1ASS1, EX6DELdeletionPathogenic
10ASS1ASS1, IVS6AS, A-G, -2deletionPathogenic
11ASS1NM_000050.4(ASS1): c.40G> A (p.Gly14Ser)single nucleotide variantPathogenicrs121908636GRCh37Chr 9, 133327655: 133327655
12ASS1NM_000050.4(ASS1): c.470G> A (p.Arg157His)single nucleotide variantPathogenicrs121908637GRCh37Chr 9, 133342161: 133342161
13ASS1NM_000050.4(ASS1): c.539G> A (p.Ser180Asn)single nucleotide variantPathogenicrs121908638GRCh37Chr 9, 133346264: 133346264
14ASS1NM_000050.4(ASS1): c.970G> A (p.Gly324Ser)single nucleotide variantLikely pathogenic, Pathogenicrs121908639GRCh37Chr 9, 133364851: 133364851
15ASS1NM_000050.4(ASS1): c.1087C> T (p.Arg363Trp)single nucleotide variantLikely pathogenic, Pathogenicrs121908640GRCh37Chr 9, 133370370: 133370370
16ASS1NM_000050.4(ASS1): c.1168G> A (p.Gly390Arg)single nucleotide variantPathogenicrs121908641GRCh37Chr 9, 133374932: 133374932
17ASS1NM_000050.4(ASS1): c.910C> T (p.Arg304Trp)single nucleotide variantPathogenicrs121908642GRCh37Chr 9, 133364791: 133364791
18ASS1NM_000050.4(ASS1): c.53C> T (p.Ser18Leu)single nucleotide variantPathogenicrs121908643GRCh37Chr 9, 133327668: 133327668
19ASS1NM_000050.4(ASS1): c.256C> T (p.Arg86Cys)single nucleotide variantPathogenicrs121908644GRCh37Chr 9, 133333869: 133333869
20ASS1NM_000050.4(ASS1): c.835C> T (p.Arg279Ter)single nucleotide variantLikely pathogenic, Pathogenicrs121908645GRCh37Chr 9, 133355833: 133355833
21ASS1NM_000050.4(ASS1): c.323G> T (p.Arg108Leu)single nucleotide variantPathogenicrs35269064GRCh37Chr 9, 133333936: 133333936
22ASS1ASS1, IVS6, G-A, +5single nucleotide variantPathogenic
23ASS1ASS1, IVS15, G-C, -1single nucleotide variantPathogenic
24ASS1NM_000050.4(ASS1): c.928A> C (p.Lys310Gln)single nucleotide variantPathogenicrs121908648GRCh37Chr 9, 133364809: 133364809
25ASS1NM_000050.4(ASS1): c.496-2A> Gsingle nucleotide variantPathogenicrs398123130GRCh37Chr 9, 133346219: 133346219
26ASS1NM_000050.4(ASS1): c.787G> A (p.Val263Met)single nucleotide variantPathogenicrs192838388GRCh37Chr 9, 133355785: 133355785
27ASS1NM_000050.4(ASS1): c.793C> T (p.Arg265Cys)single nucleotide variantPathogenicrs148918985GRCh37Chr 9, 133355791: 133355791
28ASS1NM_000050.4(ASS1): c.794G> A (p.Arg265His)single nucleotide variantPathogenicrs398123131GRCh37Chr 9, 133355792: 133355792
29ASS1NM_000050.4(ASS1): c.836G> A (p.Arg279Gln)single nucleotide variantPathogenicrs371265106GRCh37Chr 9, 133355834: 133355834

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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GO Terms for genes affiliated with Citrullinemia

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1polyamine metabolic processGO:000659510.1ASL, OTC
2response to zinc ionGO:00100439.9ASS1, OTC
3negative regulation of leukocyte cell-cell adhesionGO:19030389.9ASS1, PPARA
4glucose metabolic processGO:00060069.4PC, SLC25A13
5cellular nitrogen compound metabolic processGO:00346419.3ASL, ASS1, OTC
6liver developmentGO:00018899.3ASS1, OTC
7small molecule metabolic processGO:00442818.1ASS1, PC, PPARA, SLC25A13

Sources for Citrullinemia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet