CTLN1
MCID: CTR001
MIFTS: 59

Citrullinemia (CTLN1) malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Citrullinemia

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Aliases & Descriptions for Citrullinemia:

Name: Citrullinemia 52 11 25 12 50 39 13 68
Ass Deficiency 11 23 48 24 54 70
Argininosuccinate Synthetase Deficiency 23 48 24 54 70
Citrullinemia Type I 23 48 24 54 70
Classic Citrullinemia 23 48 54 70
Ctln1 23 24 54 70
Argininosuccinic Acid Synthetase Deficiency 23 24 54
Citrullinuria 48 25 70
Citrullinemia, Classic 52 24
Citrullinemia Type 1 54 27
 
Citrullinemia 1 48 70
Ctnl1 48 68
Cit 25 2
Argininosuccinic Acid Synthetase Deficiency, Complete 68
Deficiency of Citrulline-Aspartate Ligase 11
Argininosuccinic Acid Synthase Deficiency 54
Argininosuccinate Synthase Deficiency 54
Citrullinemia Classical 50
Classical Citrullinemia 24

Characteristics:

Orphanet epidemiological data:

54
ass deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: All ages

HPO:

64
citrullinemia:
Inheritance: autosomal recessive inheritance
Onset and clinical course: neonatal onset, phenotypic variability

Classifications:



External Ids:

OMIM52 215700
Disease Ontology11 DOID:9273
ICD1030 E72.23
MeSH39 D020159
NCIt45 C84639
Orphanet54 ORPHA247525
ICD10 via Orphanet31 E72.2
MedGen37 C0175683

Summaries for Citrullinemia

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NIH Rare Diseases:48 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 citrullinemia, type ii, neonatal-onset, and has symptoms including ataxia, ataxia and lethargy. 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, brain and testes, and related mouse phenotypes are integument and homeostasis/metabolism.

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

Genetics Home Reference:25 Citrullinemia is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. Two types of citrullinemia have been described; they have different signs and symptoms and are caused by mutations in different genes.

CDC:2 Countermeasure Inventory Tracking (CIT) is a national system used by federal and state emergency response authorities, which provides the ability to track the availability of critical 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.

UniProtKB/Swiss-Prot:70 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:71 Citrullinemia is an autosomal recessive urea cycle disorder that causes ammonia and other toxic... more...

Description from OMIM:52 215700

GeneReviews 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, adult-onset type ii12.3
2citrullinemia, type ii, neonatal-onset12.2
3acute neonatal citrullinemia type i11.9
4adult-onset citrullinemia type i11.9
5argininosuccinic aciduria11.6
6carbamoylphosphate synthetase i deficiency10.8
7argininemia10.8
8ornithine transcarbamylase deficiency10.8
9plasminogen activator inhibitor-1 deficiency10.1ASS1, SLC25A13
10pulmonary hypertension, neonatal10.1ASS1, OTC
11ichthyosis, congenital, autosomal recessive 110.0ASL, ASS1
12qazi markouizos syndrome10.0ASS1, SLC25A13
13ifih1-related aicardi-goutieres syndrome10.0ASL, OTC
14hypogonadotropic hypogonadism with or without anosmia10.0OTC, PC
15retinitis pigmentosa 4, autosomal dominant or recessive10.0ASS1, OTC
16hyperekplexia 2, autosomal recessive10.0OTC, PC
17atrial fibrillation, familial, 410.0PC, SLC25A13
18fibular hypoplasia9.9PPARA, SLC25A13
19pancreatitis9.9
20cardiomyopathy, dilated, 1j9.9ASL, ASS1, OTC
21aneurysm, intracranial berry, 19.9ASL, ASS1, OTC
22c syndrome9.9ASL, ASS1, OTC
23chromosome xp21 deletion syndrome9.9ASL, ASS1, OTC
24hepatocellular carcinoma9.9
25urea cycle disorder9.9
26hyperammonemia9.9
27histiocytoid hemangioma9.9OTC, SLC25A13
28malignant cardiac peripheral nerve sheath neoplasm9.9ASS1, OTC, PC
29not otherwise specified 3-mga-uria type9.8PPARA, SLC25A13
30hepatitis9.8
31epilepsy9.8
32encephalopathy9.8
33waldenstrom macroglobulinemia9.7ASL, ASS1, OTC, SLC25A13
34schizophrenia9.6
35pyruvate carboxylase deficiency9.6
36hypertriglyceridemia9.6
37liver cirrhosis9.6
38liver disease9.6
39neutropenia9.6
40somatostatinoma9.6
41hypertrophic pyloric stenosis9.6
42pyloric stenosis9.6
43papilledema9.6
44status epilepticus9.6
45duodenitis9.6
46fatty liver disease9.6
47encephalitis9.6
48nonalcoholic steatohepatitis9.6
49pili torti9.6
50transposition of the great arteries9.6

Graphical network of the top 20 diseases related to Citrullinemia:



Diseases related to citrullinemia

Symptoms & Phenotypes for Citrullinemia

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Symptoms by clinical synopsis from OMIM:

215700

Clinical features from OMIM:

215700

Human phenotypes related to Citrullinemia:

 64 (show all 20)
id Description HPO Frequency HPO Source Accession
1 irritability64 HP:0000737
2 intellectual disability64 HP:0001249
3 seizures64 HP:0001250
4 ataxia64 HP:0001251
5 lethargy64 HP:0001254
6 coma64 HP:0001259
7 global developmental delay64 HP:0001263
8 stroke64 HP:0001297
9 cirrhosis64 HP:0001394
10 failure to thrive64 HP:0001508
11 respiratory alkalosis64 HP:0001950
12 episodic ammonia intoxication64 HP:0001951
13 hyperammonemia64 HP:0001987
14 vomiting64 HP:0002013
15 protein avoidance64 HP:0002038
16 cerebral edema64 HP:0002181
17 hepatomegaly64 HP:0002240
18 hyperglutaminemia64 HP:0003217
19 oroticaciduria64 HP:0003218
20 hypoargininemia64 HP:0005961

UMLS symptoms related to Citrullinemia:


ataxia, lethargy, seizures, vomiting

MGI Mouse Phenotypes related to Citrullinemia according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107719.2ASL, ASS1, OTC, PPARA
2MP:00053767.9ASL, ASS1, OTC, PC, PPARA, SLC25A13
3MP:00107687.1ASL, ASS1, OTC, PC, PPARA, SLC25A13

Drugs & Therapeutics for Citrullinemia

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

(show all 17)
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`
2HematinicsPhase 21684
3Liver ExtractsPhase 2, Phase 14067
4
OrnithineNutraceuticalPhase 2, Phase 1713184-13-26262, 389
Synonyms:
(+)-S-Ornithine
(+/-)-2,5-Diaminopentanoic acid monohydrochloride
(S)-2,5-Diaminopentanoate
(S)-2,5-Diaminopentanoic acid
(S)-Ornithine
(S)-a,D-Diaminovalerate
(S)-a,D-Diaminovaleric acid
2,5-Diaminopentanoic acid hydrochloride
5-Amino-L-Norvaline
D -2,5-Diaminopentanoic acid
D-Ornithine
DL -2,5-Diaminopentanoic acid
DL-ornithine
DL-ornithine HCL
DL-ornithine monohydrochloride
DL-ornithine, hydrochloride
 
L -2,5-Diaminopentanoic acid
L-(-)-Ornithine
L-Ornithine
L-Ornithine hydrochloride
L-Ornithine hydrochloride (van)
L-Ornithine monohydrochloride
L-Ornithine, monohydrochloride
L-Ornithine-carboxy-14C hydrochloride
MonohydrochlorideDL-Ornithine
Monohydrochloridel-Ornithine
Ornithine DL-form HCL
Ornithine DL-form monohydrochloride
Ornithine hydrochloride
Ornithine hydrochloride (van)
Ornithine monohydrochloride
Ornithine, hydrochloride (1:1)
Ornithine, monohydrochloride
Poly-L-ornithine hydrochloride
5
Nitric Oxideapproved61710102-43-9145068
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
6Peripheral Nervous System Agents23689
7Vasodilator Agents3543
8Neurotransmitter Agents18340
9Respiratory System Agents4997
10Protective Agents7443
11Bronchodilator Agents2965
12Anti-Asthmatic Agents3488
13Antioxidants3050
14Endothelium-Dependent Relaxing Factors281
15Autonomic Agents10150
16Vaccines6611
17arginineNutraceutical425

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
5Citrulline Allo. Evaluation of Citrullinemia as a Marker of Bowel Damage After Allogeneic Bone Marrow Transplantation in ChildrenUnknown statusNCT00751452
6Nitric Oxide Flux and Ureagenesis in Argininosuccinate Synthetase Deficiency (ASSD)(Citrullinemia I)CompletedNCT01610089
7Microcirculation During Extracorporeal CirculationCompletedNCT01389947
8Neuroimaging and Neuropsychological Outcomes in Urea Cycle DisordersRecruitingNCT02935283
9The 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 I27 24 ASS1

Anatomical Context for Citrullinemia

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MalaCards organs/tissues related to Citrullinemia:

36
Liver, Brain, Testes, Skin

Publications for Citrullinemia

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Articles related to Citrullinemia:

(show top 50)    (show all 195)
idTitleAuthorsYear
1
Corrigendum to "Modelling urea-cycle disorder citrullinemia type 1 with disease-specific iPSCs" [Biochem. Biophys. Res. Commun. 486(3) (2017) 613-619]. (28528898)
2017
2
Identification of three novel mutations in fourteen patients with citrullinemia type 1. (28132756)
2017
3
Modelling urea-cycle disorder citrullinemia type 1 with disease-specific iPSCs. (28302489)
2017
4
General anesthesia in a patient with citrullinemia using Precedex as an adjunct to prevent delayed emergence. (27555199)
2016
5
Anesthetic experience of an adult male with citrullinemia type II: a case report. (27724842)
2016
6
Steatogenesis in adult-onset type II citrullinemia is associated with down-regulation of PPARI+. (25533124)
2015
7
The first successful live birth following preimplantation genetic diagnosis using PCR for type 1 citrullinemia. (24883299)
2014
8
Improved standards for prenatal diagnosis of citrullinemia. (24889030)
2014
9
Anesthetic management in a child with citrullinemia: a case report. (25289380)
2014
10
Medium-chain triglyceride supplementation under a low-carbohydrate formula is a promising therapy for adult-onset type II citrullinemia. (27896073)
2014
11
Genetic analysis of ASS1, ASL and SLC25A13 in citrullinemia patients]. (24927999)
2014
12
Functional analysis of novel splicing and missense mutations identified in the ASS1 gene in classical citrullinemia patients. (25179242)
2014
13
Stroke as a rare manifestation of classical citrullinemia. (24627279)
2014
14
Molecular genetics of citrullinemia types I and II. (24508627)
2014
15
A case of adult-onset type II citrullinemia (CTLN2) triggered by an overseas travel. (25283831)
2014
16
Electroencephalography and transcranial Doppler ultrasonography in neonatal citrullinemia. (25443352)
2014
17
Neonatal citrullinemia: novel, reversible neuroimaging findings correlated with ammonia level changes. (25266618)
2014
18
A case of adult-onset type II citrullinemia treated as schizophrenia for long times. (25384800)
2014
19
Citrullinemia with an atypical presentation: persistent hiccups. Case report. (25192536)
2014
20
Mutation spectrum of the ASS1 gene in Korean patients with citrullinemia type I. (23099195)
2013
21
High prevalence of neonatal presentation in Korean patients with citrullinemia type 1, and their shared mutations. (23246278)
2013
22
Citrullinemia stimulation test in the evaluation of the intestinal function. (23808451)
2013
23
Liver transplantation versus conservative treatment for adult-onset type II citrullinemia: our experience and a review of the literature. (24182831)
2013
24
Citrullinemia type I and hypertrophic pyloric stenosis in a 1-month old male infant. (24765495)
2013
25
Prenatal diagnosis of citrullinemia type 1: A Chinese family with a novel mutation of the ASS1 gene. (23611581)
2013
26
Three cases of adult-onset type II citrullinemia treated with different therapies: Efficacy of sodium pyruvate and low-carbohydrate diet. (23701493)
2013
27
A patient with type II citrullinemia who developed refractory complex seizure. (22554431)
2013
28
A 73-year-old patient with adult-onset type II citrullinemia successfully treated by sodium pyruvate and arginine. (23369404)
2013
29
Citrullinemia type 1: genetic diagnosis and prenatal diagnosis in subsequent pregnancy. (24222285)
2013
30
Liver-directed adeno-associated virus serotype 8 gene transfer rescues a lethal murine model of citrullinemia type 1. (24131980)
2013
31
Patient with adult-onset type II citrullinemia beginning 2 years after operation for duodenal malignant somatostatinoma: Indication for liver transplantation. (23617280)
2013
32
First two cases of adult-onset type II citrullinemia successfully treated by deceased-donor liver transplantation in Japan. (22882336)
2012
33
Unrecognized citrullinemia mimicking encephalitis in a 14-year-old boy: unexpected result through the use of a standardized lumbar puncture protocol. (22473243)
2012
34
Successful prospective management of neonatal citrullinemia. (22768672)
2012
35
Molecular epidemiology of citrullinemia type I in a risk region of Argentina: a first step to preconception heterozygote detection. (23430935)
2012
36
An elderly Japanese patient with adult-onset type II citrullinemia with a novel D493G mutation in the SLC25A13 gene. (22892490)
2012
37
30-year follow-up of a patient with classic citrullinemia. (22494546)
2012
38
Transient fulminant liver failure as an initial presentation in citrullinemia type I. (21227727)
2011
39
The characteristics of food intake in patients with type II citrullinemia. (21908947)
2011
40
Auxiliary partial orthotopic liver transplantation for adult onset type II citrullinemia. (22066084)
2011
41
Two hypomorphic alleles of mouse Ass1 as a new animal model of citrullinemia type I and other hyperammonemic syndromes. (20724589)
2010
42
A case of adult-onset type II citrullinemia with comorbid epilepsy even after liver transplantation. (21204812)
2010
43
Metabolic investigations prevent liver transplantation in two young children with citrullinemia type I. (20852933)
2010
44
Citrullinemia type I: molecular screening of the ASS1 gene by exonic sequencing and targeted mutation analysis. (20690080)
2010
45
First manifestation of citrullinemia type I as differential diagnosis to postpartum psychosis in the puerperal period. (20005624)
2010
46
Nonalcoholic fatty liver disease in 2 siblings with adult-onset type II citrullinemia. (20400906)
2010
47
A case of adult-onset type II citrullinemia with repeated nonconvulsive status epilepticus]. (19928687)
2009
48
Citrullinemia type I, classical variant. Identification of ASS-p~G390R (c.1168G>A) mutation in families of a limited geographic area of Argentina: a possible population cluster. (19358837)
2009
49
Possible mechanism for zonisamide-induced hyperammonemia in a child with citrullinemia type 1. (19584493)
2009
50
A case of adult onset type II citrullinemia with portal-systemic shunt. (19285691)
2009

Variations for Citrullinemia

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UniProtKB/Swiss-Prot genetic disease variations for Citrullinemia:

70 (show all 86)
id Symbol AA change Variation ID SNP ID
1ASS1p.Gly14SerVAR_000681rs121908636
2ASS1p.Ser18LeuVAR_000682rs121908643
3ASS1p.Arg86CysVAR_000683rs121908644
4ASS1p.Ala118ThrVAR_000684rs775305020
5ASS1p.Arg157HisVAR_000685rs121908637
6ASS1p.Ser180AsnVAR_000686rs121908638
7ASS1p.Ala192ValVAR_000687
8ASS1p.Arg272CysVAR_000688rs762387914
9ASS1p.Gly280ArgVAR_000689
10ASS1p.Arg304TrpVAR_000690rs121908642
11ASS1p.Gly324SerVAR_000691rs121908639
12ASS1p.Arg363LeuVAR_000692
13ASS1p.Arg363TrpVAR_000693rs121908640
14ASS1p.Gly390ArgVAR_000694rs121908641
15ASS1p.Cys19ArgVAR_015891
16ASS1p.Arg86HisVAR_015892rs575001023
17ASS1p.Arg95SerVAR_015893
18ASS1p.Pro96SerVAR_015894
19ASS1p.Gly117SerVAR_015895rs770944877
20ASS1p.Gly117AspVAR_015896
21ASS1p.Arg157CysVAR_015897rs770585183
22ASS1p.Trp179ArgVAR_015898rs121908646
23ASS1p.Glu191LysVAR_015899rs777828000
24ASS1p.Arg265HisVAR_015900rs398123131
25ASS1p.Val269MetVAR_015901rs370595480
26ASS1p.Glu283LysVAR_015902rs765338121
27ASS1p.Lys310ArgVAR_015903rs199751308
28ASS1p.Gly362ValVAR_015904rs121908647
29ASS1p.Glu270GlnVAR_016007rs775163147
30ASS1p.Arg279GlnVAR_016008rs371265106
31ASS1p.Lys310GlnVAR_016009rs121908648
32ASS1p.Arg363GlyVAR_016010
33ASS1p.Arg363GlnVAR_016011rs771937610
34ASS1p.Thr389IleVAR_016012
35ASS1p.Val69AlaVAR_016013rs771594651
36ASS1p.Arg108LeuVAR_016014rs35269064
37ASS1p.Thr119IleVAR_016015
38ASS1p.Gln40LeuVAR_058337
39ASS1p.Ser79ProVAR_058338
40ASS1p.Pro96HisVAR_058339
41ASS1p.Asp124AsnVAR_058340
42ASS1p.Arg127GlnVAR_058341rs201623252
43ASS1p.Arg127TrpVAR_058342rs771794639
44ASS1p.Leu160ProVAR_058343
45ASS1p.Tyr190AspVAR_058344
46ASS1p.Glu191GlnVAR_058345
47ASS1p.Ala202GluVAR_058346rs376371866
48ASS1p.Leu206ProVAR_058347
49ASS1p.Val263MetVAR_058348rs192838388
50ASS1p.Arg265CysVAR_058349rs148918985
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
63ASS1p.Thr91ProVAR_078389
64ASS1p.Pro96LeuVAR_078390
65ASS1p.Arg100CysVAR_078392
66ASS1p.Arg100HisVAR_078393
67ASS1p.Ala111AspVAR_078394
68ASS1p.Gly117CysVAR_078395
69ASS1p.Arg157SerVAR_078398
70ASS1p.Ala164ProVAR_078400
71ASS1p.Ser180IleVAR_078401
72ASS1p.Asn184LysVAR_078402
73ASS1p.Gly230ArgVAR_078403
74ASS1p.Asn237IleVAR_078404
75ASS1p.Ala258ProVAR_078405
76ASS1p.Ala258ValVAR_078406
77ASS1p.Arg272HisVAR_078407
78ASS1p.Arg272LeuVAR_078408
79ASS1p.Leu290ProVAR_078411
80ASS1p.Ala299AspVAR_078412
81ASS1p.Val306GlyVAR_078413
82ASS1p.Val321MetVAR_078415
83ASS1p.Arg335HisVAR_078416
84ASS1p.Cys337ArgVAR_078417
85ASS1p.Gly356ValVAR_078419
86ASS1p.Thr389ProVAR_078422

Clinvar genetic disease variations for Citrullinemia:

5 (show all 43)
id Gene Variation Type Significance SNP ID Assembly Location
1ASS1NM_ 000050.4(ASS1): c.1194-1G> CSNVPathogenic/ Likely pathogenicrs727503814GRCh37Chr 9, 133376362: 133376362
2ASS1NM_ 000050.4(ASS1): c.1138C> T (p.Gln380Ter)SNVLikely 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)SNVLikely 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> GSNVPathogenicrs751930594GRCh37Chr 9, 133342110: 133342110
7ASS1NM_ 000050.4(ASS1): c.571G> A (p.Glu191Lys)SNVPathogenicrs777828000GRCh37Chr 9, 133346876: 133346876
8ASS1NM_ 000050.4(ASS1): c.773+49C> TSNVPathogenicrs763389916GRCh37Chr 9, 133355236: 133355236
9ASS1NM_ 000050.4(ASS1): c.257G> A (p.Arg86His)SNVPathogenicrs575001023GRCh38Chr 9, 130458483: 130458483
10ASS1NM_ 000050.4(ASS1): c.851C> T (p.Thr284Ile)SNVPathogenicrs886039853GRCh38Chr 9, 130489345: 130489345
11ASS1NM_ 000050.4(ASS1): c.970+5G> ASNVPathogenicrs372128852GRCh38Chr 9, 130489469: 130489469
12ASS1NM_ 000050.4(ASS1): c.1064delA (p.Lys355Argfs)deletionPathogenicrs886043088GRCh37Chr 9, 133370347: 133370347
13ASS1NM_ 000050.4(ASS1): c.978delG (p.Trp326Cysfs)deletionLikely pathogenicrs1057516338GRCh38Chr 9, 130494874: 130494874
14ASS1NM_ 000050.4(ASS1): c.412C> T (p.Gln138Ter)SNVLikely pathogenicrs1057516339GRCh37Chr 9, 133339546: 133339546
15ASS1NM_ 000050.4(ASS1): c.366delG (p.Asn123Thrfs)deletionLikely pathogenicrs1057516544GRCh37Chr 9, 133339500: 133339500
16ASS1NM_ 000050.4(ASS1): c.226delG (p.Ala76Profs)deletionLikely pathogenicrs1057516648GRCh37Chr 9, 133333839: 133333839
17ASS1NM_ 000050.4(ASS1): c.3G> A (p.Met1Ile)SNVLikely pathogenicrs1057516960GRCh38Chr 9, 130452231: 130452231
18ASS1NM_ 000050.4(ASS1): c.814C> T (p.Arg272Cys)SNVLikely pathogenicrs762387914GRCh37Chr 9, 133355812: 133355812
19ASS1NM_ 000050.4(ASS1): c.773+1G> ASNVLikely pathogenicrs982830431GRCh37Chr 9, 133355188: 133355188
20ASS1NM_ 000050.4(ASS1): c.567-1G> TSNVLikely pathogenicrs1057517259GRCh38Chr 9, 130471484: 130471484
21ASS1NM_ 000050.4(ASS1): c.1127+1G> ASNVLikely pathogenicrs1057517402GRCh37Chr 9, 133370411: 133370411
22ASS1ASS1, EX5DELdeletionPathogenic
23ASS1ASS1, EX6DELdeletionPathogenic
24ASS1ASS1, IVS6AS, A-G, -2deletionPathogenic
25ASS1NM_ 000050.4(ASS1): c.40G> A (p.Gly14Ser)SNVPathogenicrs121908636GRCh37Chr 9, 133327655: 133327655
26ASS1NM_ 000050.4(ASS1): c.539G> A (p.Ser180Asn)SNVPathogenic/ Likely pathogenicrs121908638GRCh37Chr 9, 133346264: 133346264
27ASS1NM_ 000050.4(ASS1): c.970G> A (p.Gly324Ser)SNVPathogenic/ Likely pathogenicrs121908639GRCh37Chr 9, 133364851: 133364851
28ASS1NM_ 000050.4(ASS1): c.1087C> T (p.Arg363Trp)SNVPathogenic/ Likely pathogenicrs121908640GRCh37Chr 9, 133370370: 133370370
29ASS1NM_ 000050.4(ASS1): c.1168G> A (p.Gly390Arg)SNVPathogenicrs121908641GRCh37Chr 9, 133374932: 133374932
30ASS1NM_ 000050.4(ASS1): c.910C> T (p.Arg304Trp)SNVPathogenicrs121908642GRCh37Chr 9, 133364791: 133364791
31ASS1NM_ 000050.4(ASS1): c.53C> T (p.Ser18Leu)SNVPathogenicrs121908643GRCh37Chr 9, 133327668: 133327668
32ASS1NM_ 000050.4(ASS1): c.256C> T (p.Arg86Cys)SNVPathogenicrs121908644GRCh37Chr 9, 133333869: 133333869
33ASS1NM_ 000050.4(ASS1): c.835C> T (p.Arg279Ter)SNVPathogenic/ Likely pathogenicrs121908645GRCh37Chr 9, 133355833: 133355833
34ASS1NM_ 000050.4(ASS1): c.535T> C (p.Trp179Arg)SNVPathogenicrs121908646GRCh37Chr 9, 133346260: 133346260
35ASS1NM_ 000050.4(ASS1): c.1085G> T (p.Gly362Val)SNVPathogenicrs121908647GRCh37Chr 9, 133370368: 133370368
36ASS1ASS1, IVS6, G-A, +5SNVPathogenic
37ASS1ASS1, IVS15, G-C, -1SNVPathogenic
38ASS1NM_ 000050.4(ASS1): c.928A> C (p.Lys310Gln)SNVPathogenicrs121908648GRCh37Chr 9, 133364809: 133364809
39ASS1NM_ 000050.4(ASS1): c.496-2A> GSNVPathogenicrs398123130GRCh37Chr 9, 133346219: 133346219
40ASS1NM_ 000050.4(ASS1): c.787G> A (p.Val263Met)SNVPathogenicrs192838388GRCh37Chr 9, 133355785: 133355785
41ASS1NM_ 000050.4(ASS1): c.793C> T (p.Arg265Cys)SNVPathogenicrs148918985GRCh37Chr 9, 133355791: 133355791
42ASS1NM_ 000050.4(ASS1): c.794G> A (p.Arg265His)SNVPathogenic/ Likely pathogenicrs398123131GRCh37Chr 9, 133355792: 133355792
43ASS1NM_ 000050.4(ASS1): c.836G> A (p.Arg279Gln)SNVPathogenic/ Likely pathogenicrs371265106GRCh37Chr 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
1mitochondrionGO:00057398.2ASS1, OTC, PC, SLC25A13

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

idNameGO IDScoreTop Affiliating Genes
1negative regulation of leukocyte cell-cell adhesionGO:190303810.0ASS1, PPARA
2gluconeogenesisGO:00060949.7PC, SLC25A13
3response to insulinGO:00328689.6OTC, PPARA
4arginine biosynthetic processGO:00065269.5ASL, ASS1, OTC
5cellular amino acid biosynthetic processGO:00086529.5ASL, ASS1, OTC
6urea cycleGO:00000508.9ASL, ASS1, OTC

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

idNameGO IDScoreTop Affiliating Genes
1amino acid bindingGO:00165979.4ASS1, OTC

Sources for Citrullinemia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet