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 50 11 24 13 12 48 37 66
Ass Deficiency 11 22 46 23 52 68
Argininosuccinate Synthetase Deficiency 22 46 23 52 68
Citrullinemia Type I 22 46 23 52 68
Classic Citrullinemia 22 46 52 68
Ctln1 22 23 52 68
Argininosuccinic Acid Synthetase Deficiency 22 23 52
Citrullinuria 46 24 68
Citrullinemia, Classic 50 23
Citrullinemia Type 1 52 25
 
Citrullinemia 1 46 68
Ctnl1 46 66
Cit 24 2
Argininosuccinic Acid Synthetase Deficiency, Complete 66
Argininosuccinic Acid Synthase Deficiency 52
Deficiency of Citrulline-Aspartate Ligase 11
Argininosuccinate Synthase Deficiency 52
Classical Citrullinemia 23
Citrullinemia Classical 48

Characteristics:

Orphanet epidemiological data:

52
ass deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: All ages

HPO:

62
citrullinemia:
Inheritance: autosomal recessive inheritance
Onset and clinical course: neonatal onset, phenotypic variability


Classifications:



External Ids:

OMIM50 215700
Disease Ontology11 DOID:9273
ICD1028 E72.23
MeSH37 D020159
NCIt43 C84639
Orphanet52 ORPHA247525
ICD10 via Orphanet29 E72.2
MedGen35 C0175683

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, adult-onset type ii and citrullinemia, type ii, neonatal-onset, and has symptoms including stroke, irritability and intellectual disability. 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 bone marrow, and related mouse phenotypes are liver/biliary system and behavior/neurological.

Disease Ontology:11 An urea cycle disorder that involves the accumulation of ammonia in the blood.

Genetics Home Reference:24 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:46 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:68 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:69 Citrullinemia is an autosomal recessive urea cycle disorder that causes ammonia and other toxic... more...

Description from OMIM:50 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 all 49)
idRelated DiseaseScoreTop Affiliating Genes
1citrullinemia, adult-onset type ii12.3
2citrullinemia, type ii, neonatal-onset12.2
3acute neonatal citrullinemia type i12.0
4adult-onset citrullinemia type i12.0
5argininosuccinic aciduria11.5
6autosomal genetic disease10.1ASS1, SLC25A13
7pancreatitis10.1
8hepatocellular carcinoma10.0
9hyperammonemia10.0
10fatal infantile encephalocardiomyopathy10.0ACADVL, SLC25A13
11hepatitis9.9
12epilepsy9.9
13encephalopathy9.9
14carbamoylphosphate synthetase i deficiency9.9
15argininemia9.9
16ornithine transcarbamylase deficiency9.9
17schizophrenia9.8
18pyruvate carboxylase deficiency9.8
19hypertriglyceridemia9.8
20liver cirrhosis9.8
21liver disease9.8
22neutropenia9.8
23somatostatinoma9.8
24urea cycle disorder9.8
25hypertrophic pyloric stenosis9.8
26pyloric stenosis9.8
27papilledema9.8
28status epilepticus9.8
29duodenitis9.8
30fatty liver disease9.8
31encephalitis9.8
32pili torti9.8
33transposition of the great arteries9.8
34nonalcoholic steatohepatitis9.8
35acth deficiency9.8
36postpartum psychosis9.8
37propionicacidemia9.7ASS1, OTC
38saccharopinuria9.6OTC, PC
39atrial fibrillation, familial, 49.6ACADVL, PC, SLC25A13
40fga-related congenital afibrinogenemia9.5ACADVL, PPARA, SLC25A13
41deafness, autosomal dominant 109.5ASL, ASS1, OTC
42orotic aciduria9.4ASL, ASS1, OTC
43femoral neuropathy9.4PC, PPARA
44maple syrup urine disease, type ii9.4ACADVL, OTC
45shwachman-diamond syndrome9.4ASL, ASS1, OTC
46atrophic glossitis9.4ASS1, OTC, PC
47chromosome xp21 deletion syndrome9.4ASL, ASS1, OTC
48wagr syndrome8.6ACADVL, ASL, ASS1, OTC, SLC25A13
49leukemia, chronic lymphocytic 37.5ACADVL, ASL, ASS1, OTC, PC, PPARA

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

UMLS symptoms related to Citrullinemia:


ataxia, hepatomegaly, lethargy, seizures, vomiting

Drugs & Therapeutics for Citrullinemia

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Acetohydroxamic AcidPhase 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
ornithineNutraceuticalPhase 2, Phase 16770-26-86262
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
3
Nitric Oxide58510102-43-9145068
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)
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
4arginineNutraceutical393

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 I25 23 ASS1

Anatomical Context for Citrullinemia

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MalaCards organs/tissues related to Citrullinemia:

34
Liver, Bone, Bone marrow, Testes, Brain, Skin

Animal Models for Citrullinemia or affiliated genes

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MGI Mouse Phenotypes related to Citrullinemia:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.6ACADVL, OTC, PPARA, SLC25A13
2MP:00053867.7ACADVL, ASL, ASS1, OTC, PC
3MP:00053787.3ACADVL, ASL, ASS1, OTC, PPARA, SLC25A13
4MP:00107686.8ACADVL, ASL, ASS1, OTC, PC, PPARA
5MP:00053766.7ACADVL, ASL, ASS1, OTC, PC, PPARA

Publications for Citrullinemia

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Articles related to Citrullinemia:

(show top 50)    (show all 190)
idTitleAuthorsYear
1
Functional analysis of novel splicing and missense mutations identified in the ASS1 gene in classical citrullinemia patients. (25179242)
2014
2
Three cases of adult-onset type II citrullinemia treated with different therapies: Efficacy of sodium pyruvate and low-carbohydrate diet. (23701493)
2013
3
Citrullinemia type I and hypertrophic pyloric stenosis in a 1-month old male infant. (24765495)
2013
4
A 73-year-old patient with adult-onset type II citrullinemia successfully treated by sodium pyruvate and arginine. (23369404)
2013
5
Liver-directed adeno-associated virus serotype 8 gene transfer rescues a lethal murine model of citrullinemia type 1. (24131980)
2013
6
Auxiliary partial orthotopic liver transplantation for adult onset type II citrullinemia. (22066084)
2011
7
A case of adult-onset type II citrullinemia with comorbid epilepsy even after liver transplantation. (21204812)
2010
8
Possible mechanism for zonisamide-induced hyperammonemia in a child with citrullinemia type 1. (19584493)
2009
9
Citrulline and ammonia accumulating in citrullinemia reduces antioxidant capacity of rat brain in vitro. (16773471)
2006
10
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
11
Feasibility of auxiliary partial orthotopic liver transplantation from living donors for patients with adult-onset type II citrullinemia. (15048800)
2004
12
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
13
Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia. (11941481)
2002
14
Infantile citrullinemia caused by citrin deficiency with increased dibasic amino acids. (12409267)
2002
15
Improving the prenatal diagnosis of citrullinemia using citrulline/ornithine+arginine ratio in amniotic fluid. (12116302)
2002
16
Citrullinemia type II in a 64-year-old man with fluctuating serum citrulline levels. (11137523)
2001
17
High serum pancreatic secretory trypsin inhibitor before onset of type II citrullinemia. (11552040)
2001
18
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
19
The first successful prenatal diagnosis on a Korean family with citrullinemia. (11211875)
2000
20
Novel 67-bp insertional mutation in the ASS gene in a patient with citrullinemia. (10862106)
2000
21
An adult-onset case of argininosuccinate synthetase deficiency presenting with atypical citrullinemia. (10435367)
1999
22
Fulminant neonatal citrullinemia complicated by subarachnoid hemorrhage. (8869548)
1996
23
Mutations in argininosuccinate synthetase mRNA in Japanese patients, causing classical citrullinemia. (7825601)
1995
24
Impaired ketogenesis in patients with adult-type citrullinemia. (7926463)
1994
25
Mutations in argininosuccinate synthetase mRNA of Japanese patients, causing classical citrullinemia. (7977368)
1994
26
Generation of a mouse model for citrullinemia by targeted disruption of the argininosuccinate synthetase gene. (8197477)
1994
27
Management of neonatal citrullinemia. (8292188)
1993
28
Citrullinemia Type I (20301631)
1993
29
A search for the primary abnormality in adult-onset type II citrullinemia. (8105687)
1993
30
Glutamate and gamma-aminobutyric acid neurotransmitter systems in the acute phase of maple syrup urine disease and citrullinemia encephalopathies in newborn calves. (1352800)
1992
31
Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia. (2358466)
1990
32
Molecular basis of enzyme abnormalities in urea cycle disorders. With special reference to citrullinemia and argininosuccinic aciduria. (3440446)
1987
33
Messenger RNA coding for argininosuccinate synthetase in citrullinemia. (3459354)
1986
34
Citrullinemia: quantitative deficiency of argininosuccinate synthetase in the liver. (3738904)
1986
35
Pili torti in association with citrullinemia. (3973120)
1985
36
The EEGs of infants with citrullinemia. (3996777)
1985
37
Papilledema in late-onset citrullinemia. (6696036)
1984
38
Citrullinemia presenting as uncontrollable epilepsy. (6486381)
1984
39
Citrullinemia: prenatal diagnosis of an affected fetus. (6823975)
1983
40
Diurnal fluctuation of blood ammonia levels in adult-type citrullinemia. (7202267)
1982
41
Enzymatic analysis of citrullinemia (12 cases) in Japan. (7164923)
1982
42
Variation in argininosuccinate synthetase activity in amniotic fluid cell cultures: implications for prenatal diagnosis of citrullinemia. (7318168)
1981
43
Qualitative and quantitative abnormalities of argininosuccinate synthetase in citrullinemia. (6784969)
1981
44
Lysine intolerance in a variant form of citrullinemia. (503639)
1979
45
Citrullinemia: phenotypic variations. (934749)
1976
46
Citrullinemia: enzymatic evidence for genetic heterogeneity. (1161343)
1975
47
Citrullinemia: investigation and treatment over a four-year period. (4842795)
1974
48
Citrullinemia: elevated serum citrulline levels in healthy siblings. (5451998)
1970
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:

68 (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 pathogenicrs770362721GRCh38Chr 9, 130489386: 130489386
4ASS1NM_000050.4(ASS1): c.1030C> T (p.Arg344Ter)single nucleotide variantLikely pathogenic, Pathogenicrs786204537GRCh38Chr 9, 130494926: 130494926
5ASS1NM_000050.4(ASS1): c.450_451delCT (p.Phe150Leufs)deletionLikely pathogenicrs786204648GRCh37Chr 9, 133342141: 133342142
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_054012.3(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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Cellular components related to Citrullinemia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial matrixGO:00057599.0ACADVL, OTC, PC
2mitochondrial inner membraneGO:00057438.9ACADVL, OTC, SLC25A13
3mitochondrionGO:00057398.4ACADVL, OTC, PC, SLC25A13

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1arginine biosynthetic process via ornithineGO:00424509.9ASL, OTC
2arginine biosynthetic processGO:00065269.9ASL, ASS1
3negative regulation of leukocyte cell-cell adhesionGO:19030389.7ASS1, PPARA
4response to zinc ionGO:00100439.7ASS1, OTC
5gluconeogenesisGO:00060949.7PC, SLC25A13
6midgut developmentGO:00074949.6ASS1, OTC
7liver developmentGO:00018899.6ASS1, OTC
8urea cycleGO:00000509.4ASL, ASS1, OTC
9response to insulinGO:00328689.3OTC, PPARA

Molecular functions related to Citrullinemia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1amino acid bindingGO:00165979.6ASS1, OTC

Sources for Citrullinemia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet