MCID: CTR001
MIFTS: 60

Citrullinemia

Categories: Genetic diseases, Rare diseases, Metabolic diseases, Liver diseases

Aliases & Classifications for Citrullinemia

MalaCards integrated aliases for Citrullinemia:

Name: Citrullinemia 54 12 25 13 52 42 14 69
Citrullinemia Type I 23 50 24 56 71 29
Ass Deficiency 12 23 50 24 56 71
Argininosuccinate Synthetase Deficiency 23 50 24 56 71
Classic Citrullinemia 23 50 56 71
Ctln1 23 24 56 71
Argininosuccinic Acid Synthetase Deficiency 23 24 56
Citrullinuria 50 25 71
Citrullinemia 1 50 71
Ctnl1 50 69
Cit 25 3
Argininosuccinic Acid Synthetase Deficiency, Complete 69
Deficiency of Citrulline-Aspartate Ligase 12
Argininosuccinic Acid Synthase Deficiency 56
Argininosuccinate Synthase Deficiency 56
Classical Citrullinemia 24
Citrullinemia Classical 52
Citrullinemia, Classic 24
Citrullinemia Type 1 56

Characteristics:

Orphanet epidemiological data:

56
citrullinemia type i
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: All ages;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
highly variable phenotype
neonatal onset
prevalence of 1 in 100,000
incidence of 1 in 57,000
patients may be asymptomatic, but are at risk for metabolic decompensation


HPO:

32
citrullinemia:
Onset and clinical course phenotypic variability neonatal onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Inborn errors of metabolism


Summaries for Citrullinemia

CDC : 3 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.

MalaCards based summary : Citrullinemia, also known as citrullinemia type i, is related to citrullinemia, type ii, neonatal-onset and citrullinemia, adult-onset type ii, and has symptoms including failure to thrive, ataxia and hepatomegaly. An important gene associated with Citrullinemia is ASS1 (Argininosuccinate Synthase 1), and among its related pathways/superpathways are Metabolism and Carbon metabolism. The drugs Acetohydroxamic Acid and Ornithine have been mentioned in the context of this disorder. Affiliated tissues include liver, bone and brain, and related phenotypes are growth/size/body region and mortality/aging

NIH Rare Diseases : 50 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 : 71 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.

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.

Disease Ontology : 12 An urea cycle disorder that involves the accumulation of ammonia in the blood.

Wikipedia : 72 Citrullinemia is an autosomal recessive urea cycle disorder that causes ammonia and other toxic... more...

Description from OMIM: 215700
GeneReviews: NBK1458

Related Diseases for Citrullinemia

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 52)
id Related Disease Score Top Affiliating Genes
1 citrullinemia, type ii, neonatal-onset 33.7 ASS1 SLC25A13
2 citrullinemia, adult-onset type ii 12.3
3 acute neonatal citrullinemia type i 11.9
4 adult-onset citrullinemia type i 11.9
5 microcephaly 11.4
6 argininosuccinic aciduria 11.1
7 ornithine transcarbamylase deficiency 10.8
8 carbamoylphosphate synthetase i deficiency 10.8
9 argininemia 10.8
10 hypothalamic adipsic hypernatraemia syndrome 10.2 ASS1 OTC
11 pulmonary hypertension, neonatal 10.1 ASS1 OTC
12 autosomal genetic disease 10.1 ASS1 SLC25A13
13 pancreatitis 9.9
14 immunodeficiency 7, tcr-alpha/beta deficient 9.9 ASL ASS1
15 long qt syndrome 6 9.9 PC SLC25A13
16 hyperphosphatemic familial tumoral calcinosis, fgf23-related 9.9 ASL OTC
17 hyperammonemia 9.9
18 urea cycle disorder 9.9
19 hepatocellular carcinoma 9.9
20 saccharopinuria 9.9 OTC PC
21 deafness, autosomal dominant 10 9.8 ASL ASS1 OTC
22 shwachman-diamond syndrome 9.8 ASL ASS1 OTC
23 hailey-hailey disease 9.8 ASS1 OTC SLC25A13
24 hepatitis 9.8
25 encephalopathy 9.8
26 epilepsy 9.8
27 chromosome xp21 deletion syndrome 9.8 ASL ASS1 OTC
28 c syndrome 9.8 ASL ASS1 OTC
29 fgb-related congenital afibrinogenemia 9.7 PPARA SLC25A13
30 hypertriglyceridemia 9.6
31 fatty liver disease 9.6
32 encephalitis 9.6
33 nonalcoholic steatohepatitis 9.6
34 liver cirrhosis 9.6
35 pili torti 9.6
36 liver disease 9.6
37 transposition of the great arteries 9.6
38 neutropenia 9.6
39 acth deficiency 9.6
40 somatostatinoma 9.6
41 schizophrenia 9.6
42 hypertrophic pyloric stenosis 9.6
43 pyloric stenosis 9.6
44 postpartum psychosis 9.6
45 papilledema 9.6
46 status epilepticus 9.6
47 pyruvate carboxylase deficiency 9.6
48 duodenitis 9.6
49 malignant cardiac peripheral nerve sheath neoplasm 9.6 ASS1 OTC PC
50 calcaneonavicular coalition 9.4 OTC PC

Graphical network of the top 20 diseases related to Citrullinemia:



Diseases related to Citrullinemia

Symptoms & Phenotypes for Citrullinemia

Symptoms via clinical synopsis from OMIM:

54

Growth- Other:
failure to thrive

Abdomen- Liver:
hepatomegaly
cirrhosis (in late-onset cases)

Abdomen- Gastroin testinal:
vomiting
protein avoidance

Metabolic Features:
episodic ammonia intoxication
respiratory alkalosis

Neurologic- Central Nervous System:
mental retardation
ataxia
developmental delay
seizures
lethargy
more
Neurologic- Behavioral Psychiatric Manifestations:
irritability

Laboratory- Abnormalities:
hyperammonemia
low plasma arginine
orotic aciduria
high plasma glutamine
high plasma citrulline (1000-5000 micromolar)
more

Clinical features from OMIM:

215700

Human phenotypes related to Citrullinemia:

32 (show all 20)
id Description HPO Frequency HPO Source Accession
1 failure to thrive 32 HP:0001508
2 ataxia 32 HP:0001251
3 hepatomegaly 32 HP:0002240
4 seizures 32 HP:0001250
5 lethargy 32 HP:0001254
6 irritability 32 HP:0000737
7 global developmental delay 32 HP:0001263
8 vomiting 32 HP:0002013
9 hyperammonemia 32 HP:0001987
10 coma 32 HP:0001259
11 intellectual disability 32 HP:0001249
12 cerebral edema 32 HP:0002181
13 cirrhosis 32 HP:0001394
14 stroke 32 occasional (7.5%) HP:0001297
15 protein avoidance 32 HP:0002038
16 episodic ammonia intoxication 32 HP:0001951
17 respiratory alkalosis 32 HP:0001950
18 oroticaciduria 32 HP:0003218
19 hypoargininemia 32 HP:0005961
20 hyperglutaminemia 32 HP:0003217

UMLS symptoms related to Citrullinemia:


ataxia, lethargy, seizures, vomiting

MGI Mouse Phenotypes related to Citrullinemia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.43 ASL ASS1 OTC PPARA PRMT7 SLC25A13
2 mortality/aging MP:0010768 9.1 ASL ASS1 OTC PC PPARA SLC25A13

Drugs & Therapeutics for Citrullinemia

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

(show all 17)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetohydroxamic Acid Approved Phase 1, Phase 2 546-88-3 1990
2
Ornithine Approved, Nutraceutical Phase 2,Phase 1 70-26-8, 3184-13-2 6262 389
3 Hematinics Phase 2
4 Liver Extracts Phase 2,Phase 1
5
Nitric Oxide Approved 10102-43-9 145068
6 Anti-Asthmatic Agents
7 Antioxidants
8 Autonomic Agents
9 Bronchodilator Agents
10 Endothelium-Dependent Relaxing Factors
11 Neurotransmitter Agents
12 Peripheral Nervous System Agents
13 Protective Agents
14 Respiratory System Agents
15 Vasodilator Agents
16 Vaccines
17 arginine Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Human Heterologous Liver Cells for Infusion in Children With Urea Cycle Disorders Completed NCT00718627 Phase 2
2 Pilot Study For Hypothermia Treatment In Hyperammonemic Encephalopathy In Neonates And Very Young Infants Completed NCT01624311 Phase 2
3 Urease Inhibitor Drug Treatment for Urea Cycle Disorders Not yet recruiting NCT02670889 Phase 1, Phase 2 Acetohydroxamic Acid;Isotopic Intravenous [13C]-Urea
4 Hepatocyte Transplantation for Liver Based Metabolic Disorders Suspended NCT01345578 Phase 1 human hepatocyte transplantation
5 Citrulline Allo. Evaluation of Citrullinemia as a Marker of Bowel Damage After Allogeneic Bone Marrow Transplantation in Children Unknown status NCT00751452
6 Nitric Oxide Flux and Ureagenesis in Argininosuccinate Synthetase Deficiency (ASSD)(Citrullinemia I) Completed NCT01610089
7 Microcirculation During Extracorporeal Circulation Completed NCT01389947
8 Neuroimaging and Neuropsychological Outcomes in Urea Cycle Disorders Recruiting NCT02935283
9 The NIH UNI Study: Urea Cycle Disorders, Nutrition and Immunity Terminated NCT01421888

Search NIH Clinical Center for Citrullinemia

Cochrane evidence based reviews: citrullinemia

Genetic Tests for Citrullinemia

Genetic tests related to Citrullinemia:

id Genetic test Affiliating Genes
1 Citrullinemia Type I 29 24 ASS1

Anatomical Context for Citrullinemia

MalaCards organs/tissues related to Citrullinemia:

39
Liver, Bone, Brain, Bone Marrow, Testes, Skin

Publications for Citrullinemia

Articles related to Citrullinemia:

(show top 50) (show all 198)
id Title Authors Year
1
PRMT7 Interacts with ASS1 and Citrullinemia Mutations Disrupt the Interaction. ( 28587924 )
2017
2
Modelling urea-cycle disorder citrullinemia type 1 with disease-specific iPSCs. ( 28302489 )
2017
3
First report of carglumic acid in a patient with citrullinemia type 1 (argininosuccinate synthetase deficiency). ( 28741715 )
2017
4
Teaching NeuroImages: Reversible brain MRI lesions in adult-onset type II citrullinemia. ( 28847840 )
2017
5
Corrigendum to "Modelling urea-cycle disorder citrullinemia type 1 with disease-specific iPSCs" [Biochem. Biophys. Res. Commun. 486(3) (2017) 613-619]. ( 28528898 )
2017
6
Identification of three novel mutations in fourteen patients with citrullinemia type 1. ( 28132756 )
2017
7
General anesthesia in a patient with citrullinemia using Precedex as an adjunct to prevent delayed emergence. ( 27555199 )
2016
8
Anesthetic experience of an adult male with citrullinemia type II: a case report. ( 27724842 )
2016
9
Steatogenesis in adult-onset type II citrullinemia is associated with down-regulation of PPARI+. ( 25533124 )
2015
10
Improved standards for prenatal diagnosis of citrullinemia. ( 24889030 )
2014
11
Medium-chain triglyceride supplementation under a low-carbohydrate formula is a promising therapy for adult-onset type II citrullinemia. ( 27896073 )
2014
12
Stroke as a rare manifestation of classical citrullinemia. ( 24627279 )
2014
13
A case of adult-onset type II citrullinemia (CTLN2) triggered by an overseas travel. ( 25283831 )
2014
14
[Genetic analysis of ASS1, ASL and SLC25A13 in citrullinemia patients]. ( 24927999 )
2014
15
Functional analysis of novel splicing and missense mutations identified in the ASS1 gene in classical citrullinemia patients. ( 25179242 )
2014
16
Electroencephalography and transcranial Doppler ultrasonography in neonatal citrullinemia. ( 25443352 )
2014
17
Anesthetic management in a child with citrullinemia: a case report. ( 25289380 )
2014
18
A case of adult-onset type II citrullinemia treated as schizophrenia for long times. ( 25384800 )
2014
19
Neonatal citrullinemia: novel, reversible neuroimaging findings correlated with ammonia level changes. ( 25266618 )
2014
20
Citrullinemia with an atypical presentation: persistent hiccups. Case report. ( 25192536 )
2014
21
Molecular genetics of citrullinemia types I and II. ( 24508627 )
2014
22
The first successful live birth following preimplantation genetic diagnosis using PCR for type 1 citrullinemia. ( 24883299 )
2014
23
A 73-year-old patient with adult-onset type II citrullinemia successfully treated by sodium pyruvate and arginine. ( 23369404 )
2013
24
A patient with type II citrullinemia who developed refractory complex seizure. ( 22554431 )
2013
25
Liver transplantation versus conservative treatment for adult-onset type II citrullinemia: our experience and a review of the literature. ( 24182831 )
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
High prevalence of neonatal presentation in Korean patients with citrullinemia type 1, and their shared mutations. ( 23246278 )
2013
28
Liver-directed adeno-associated virus serotype 8 gene transfer rescues a lethal murine model of citrullinemia type 1. ( 24131980 )
2013
29
Citrullinemia stimulation test in the evaluation of the intestinal function. ( 23808451 )
2013
30
Prenatal diagnosis of citrullinemia type 1: A Chinese family with a novel mutation of the ASS1 gene. ( 23611581 )
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
Citrullinemia type I and hypertrophic pyloric stenosis in a 1-month old male infant. ( 24765495 )
2013
33
Citrullinemia type 1: genetic diagnosis and prenatal diagnosis in subsequent pregnancy. ( 24222285 )
2013
34
Mutation spectrum of the ASS1 gene in Korean patients with citrullinemia type I. ( 23099195 )
2013
35
First two cases of adult-onset type II citrullinemia successfully treated by deceased-donor liver transplantation in Japan. ( 22882336 )
2012
36
Unrecognized citrullinemia mimicking encephalitis in a 14-year-old boy: unexpected result through the use of a standardized lumbar puncture protocol. ( 22473243 )
2012
37
An elderly Japanese patient with adult-onset type II citrullinemia with a novel D493G mutation in the SLC25A13 gene. ( 22892490 )
2012
38
Molecular epidemiology of citrullinemia type I in a risk region of Argentina: a first step to preconception heterozygote detection. ( 23430935 )
2012
39
30-year follow-up of a patient with classic citrullinemia. ( 22494546 )
2012
40
Successful prospective management of neonatal citrullinemia. ( 22768672 )
2012
41
Auxiliary partial orthotopic liver transplantation for adult onset type II citrullinemia. ( 22066084 )
2011
42
The characteristics of food intake in patients with type II citrullinemia. ( 21908947 )
2011
43
Transient fulminant liver failure as an initial presentation in citrullinemia type I. ( 21227727 )
2011
44
Metabolic investigations prevent liver transplantation in two young children with citrullinemia type I. ( 20852933 )
2010
45
First manifestation of citrullinemia type I as differential diagnosis to postpartum psychosis in the puerperal period. ( 20005624 )
2010
46
Citrullinemia type I: molecular screening of the ASS1 gene by exonic sequencing and targeted mutation analysis. ( 20690080 )
2010
47
Nonalcoholic fatty liver disease in 2 siblings with adult-onset type II citrullinemia. ( 20400906 )
2010
48
Two hypomorphic alleles of mouse Ass1 as a new animal model of citrullinemia type I and other hyperammonemic syndromes. ( 20724589 )
2010
49
A case of adult-onset type II citrullinemia with comorbid epilepsy even after liver transplantation. ( 21204812 )
2010
50
[A case of adult-onset type II citrullinemia with repeated nonconvulsive status epilepticus]. ( 19928687 )
2009

Variations for Citrullinemia

UniProtKB/Swiss-Prot genetic disease variations for Citrullinemia:

71 (show top 50) (show all 86)
id Symbol AA change Variation ID SNP ID
1 ASS1 p.Gly14Ser VAR_000681 rs121908636
2 ASS1 p.Ser18Leu VAR_000682 rs121908643
3 ASS1 p.Arg86Cys VAR_000683 rs121908644
4 ASS1 p.Ala118Thr VAR_000684 rs775305020
5 ASS1 p.Arg157His VAR_000685 rs121908637
6 ASS1 p.Ser180Asn VAR_000686 rs121908638
7 ASS1 p.Ala192Val VAR_000687
8 ASS1 p.Arg272Cys VAR_000688 rs762387914
9 ASS1 p.Gly280Arg VAR_000689
10 ASS1 p.Arg304Trp VAR_000690 rs121908642
11 ASS1 p.Gly324Ser VAR_000691 rs121908639
12 ASS1 p.Arg363Leu VAR_000692
13 ASS1 p.Arg363Trp VAR_000693 rs121908640
14 ASS1 p.Gly390Arg VAR_000694 rs121908641
15 ASS1 p.Cys19Arg VAR_015891
16 ASS1 p.Arg86His VAR_015892 rs575001023
17 ASS1 p.Arg95Ser VAR_015893
18 ASS1 p.Pro96Ser VAR_015894
19 ASS1 p.Gly117Ser VAR_015895 rs770944877
20 ASS1 p.Gly117Asp VAR_015896
21 ASS1 p.Arg157Cys VAR_015897 rs770585183
22 ASS1 p.Trp179Arg VAR_015898 rs121908646
23 ASS1 p.Glu191Lys VAR_015899 rs777828000
24 ASS1 p.Arg265His VAR_015900 rs398123131
25 ASS1 p.Val269Met VAR_015901 rs370595480
26 ASS1 p.Glu283Lys VAR_015902 rs765338121
27 ASS1 p.Lys310Arg VAR_015903 rs199751308
28 ASS1 p.Gly362Val VAR_015904 rs121908647
29 ASS1 p.Glu270Gln VAR_016007 rs775163147
30 ASS1 p.Arg279Gln VAR_016008 rs371265106
31 ASS1 p.Lys310Gln VAR_016009 rs121908648
32 ASS1 p.Arg363Gly VAR_016010
33 ASS1 p.Arg363Gln VAR_016011 rs771937610
34 ASS1 p.Thr389Ile VAR_016012
35 ASS1 p.Val69Ala VAR_016013 rs771594651
36 ASS1 p.Arg108Leu VAR_016014 rs35269064
37 ASS1 p.Thr119Ile VAR_016015
38 ASS1 p.Gln40Leu VAR_058337
39 ASS1 p.Ser79Pro VAR_058338
40 ASS1 p.Pro96His VAR_058339
41 ASS1 p.Asp124Asn VAR_058340
42 ASS1 p.Arg127Gln VAR_058341 rs201623252
43 ASS1 p.Arg127Trp VAR_058342 rs771794639
44 ASS1 p.Leu160Pro VAR_058343
45 ASS1 p.Tyr190Asp VAR_058344
46 ASS1 p.Glu191Gln VAR_058345
47 ASS1 p.Ala202Glu VAR_058346 rs376371866
48 ASS1 p.Leu206Pro VAR_058347
49 ASS1 p.Val263Met VAR_058348 rs192838388
50 ASS1 p.Arg265Cys VAR_058349 rs148918985

ClinVar genetic disease variations for Citrullinemia:

6 (show all 44)
id Gene Variation Type Significance SNP ID Assembly Location
1 ASS1 ASS1, EX5DEL deletion Pathogenic
2 ASS1 ASS1, EX6DEL deletion Pathogenic
3 ASS1 ASS1, IVS6AS, A-G, -2 deletion Pathogenic
4 ASS1 NM_000050.4(ASS1): c.40G> A (p.Gly14Ser) single nucleotide variant Pathogenic rs121908636 GRCh37 Chromosome 9, 133327655: 133327655
5 ASS1 NM_000050.4(ASS1): c.539G> A (p.Ser180Asn) single nucleotide variant Pathogenic/Likely pathogenic rs121908638 GRCh37 Chromosome 9, 133346264: 133346264
6 ASS1 NM_000050.4(ASS1): c.970G> A (p.Gly324Ser) single nucleotide variant Pathogenic/Likely pathogenic rs121908639 GRCh37 Chromosome 9, 133364851: 133364851
7 ASS1 NM_000050.4(ASS1): c.1087C> T (p.Arg363Trp) single nucleotide variant Pathogenic/Likely pathogenic rs121908640 GRCh37 Chromosome 9, 133370370: 133370370
8 ASS1 NM_000050.4(ASS1): c.1168G> A (p.Gly390Arg) single nucleotide variant Pathogenic rs121908641 GRCh37 Chromosome 9, 133374932: 133374932
9 ASS1 NM_000050.4(ASS1): c.910C> T (p.Arg304Trp) single nucleotide variant Pathogenic rs121908642 GRCh37 Chromosome 9, 133364791: 133364791
10 ASS1 NM_000050.4(ASS1): c.53C> T (p.Ser18Leu) single nucleotide variant Pathogenic rs121908643 GRCh37 Chromosome 9, 133327668: 133327668
11 ASS1 NM_000050.4(ASS1): c.256C> T (p.Arg86Cys) single nucleotide variant Pathogenic rs121908644 GRCh37 Chromosome 9, 133333869: 133333869
12 ASS1 NM_000050.4(ASS1): c.835C> T (p.Arg279Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121908645 GRCh37 Chromosome 9, 133355833: 133355833
13 ASS1 NM_000050.4(ASS1): c.535T> C (p.Trp179Arg) single nucleotide variant Pathogenic rs121908646 GRCh37 Chromosome 9, 133346260: 133346260
14 ASS1 NM_000050.4(ASS1): c.1085G> T (p.Gly362Val) single nucleotide variant Pathogenic rs121908647 GRCh37 Chromosome 9, 133370368: 133370368
15 ASS1 ASS1, IVS6, G-A, +5 single nucleotide variant Pathogenic
16 ASS1 ASS1, IVS15, G-C, -1 single nucleotide variant Pathogenic
17 ASS1 NM_000050.4(ASS1): c.928A> C (p.Lys310Gln) single nucleotide variant Pathogenic rs121908648 GRCh37 Chromosome 9, 133364809: 133364809
18 ASS1 NM_000050.4(ASS1): c.496-2A> G single nucleotide variant Pathogenic rs398123130 GRCh37 Chromosome 9, 133346219: 133346219
19 ASS1 NM_000050.4(ASS1): c.787G> A (p.Val263Met) single nucleotide variant Pathogenic rs192838388 GRCh37 Chromosome 9, 133355785: 133355785
20 ASS1 NM_000050.4(ASS1): c.793C> T (p.Arg265Cys) single nucleotide variant Pathogenic rs148918985 GRCh37 Chromosome 9, 133355791: 133355791
21 ASS1 NM_000050.4(ASS1): c.794G> A (p.Arg265His) single nucleotide variant Pathogenic/Likely pathogenic rs398123131 GRCh37 Chromosome 9, 133355792: 133355792
22 ASS1 NM_000050.4(ASS1): c.836G> A (p.Arg279Gln) single nucleotide variant Pathogenic/Likely pathogenic rs371265106 GRCh37 Chromosome 9, 133355834: 133355834
23 ASS1 NM_000050.4(ASS1): c.1194-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs727503814 GRCh37 Chromosome 9, 133376362: 133376362
24 ASS1 NM_000050.4(ASS1): c.450_451delCT (p.Phe150Leufs) deletion Likely pathogenic rs786204648 GRCh38 Chromosome 9, 130466754: 130466755
25 ASS1 NM_000050.4(ASS1): c.892delG (p.Glu298Argfs) deletion Likely pathogenic rs770362721 GRCh37 Chromosome 9, 133364773: 133364773
26 ASS1 NM_000050.4(ASS1): c.1030C> T (p.Arg344Ter) single nucleotide variant Likely pathogenic rs786204537 GRCh37 Chromosome 9, 133370313: 133370313
27 ASS1 NM_000050.4(ASS1): c.1138C> T (p.Gln380Ter) single nucleotide variant Likely pathogenic rs786204460 GRCh37 Chromosome 9, 133374902: 133374902
28 ASS1 NM_000050.4(ASS1): c.421-2A> G single nucleotide variant Pathogenic rs751930594 GRCh37 Chromosome 9, 133342110: 133342110
29 ASS1 NM_000050.4(ASS1): c.571G> A (p.Glu191Lys) single nucleotide variant Pathogenic rs777828000 GRCh37 Chromosome 9, 133346876: 133346876
30 ASS1 NM_000050.4(ASS1): c.689G> C (p.Gly230Ala) single nucleotide variant Likely pathogenic rs1085307056 GRCh38 Chromosome 9, 130479716: 130479716
31 ASS1 NM_000050.4(ASS1): c.257G> A (p.Arg86His) single nucleotide variant Pathogenic rs575001023 GRCh38 Chromosome 9, 130458483: 130458483
32 ASS1 NM_000050.4(ASS1): c.773+49C> T single nucleotide variant Pathogenic rs763389916 GRCh37 Chromosome 9, 133355236: 133355236
33 ASS1 NM_000050.4(ASS1): c.851C> T (p.Thr284Ile) single nucleotide variant Pathogenic rs886039853 GRCh38 Chromosome 9, 130489345: 130489345
34 ASS1 NM_000050.4(ASS1): c.970+5G> A single nucleotide variant Pathogenic rs372128852 GRCh38 Chromosome 9, 130489469: 130489469
35 ASS1 NM_000050.4(ASS1): c.1064delA (p.Lys355Argfs) deletion Pathogenic rs886043088 GRCh37 Chromosome 9, 133370347: 133370347
36 ASS1 NM_000050.4(ASS1): c.3G> A (p.Met1Ile) single nucleotide variant Likely pathogenic rs1057516960 GRCh38 Chromosome 9, 130452231: 130452231
37 ASS1 NM_000050.4(ASS1): c.226delG (p.Ala76Profs) deletion Likely pathogenic rs1057516648 GRCh37 Chromosome 9, 133333839: 133333839
38 ASS1 NM_000050.4(ASS1): c.366delG (p.Asn123Thrfs) deletion Likely pathogenic rs1057516544 GRCh37 Chromosome 9, 133339500: 133339500
39 ASS1 NM_000050.4(ASS1): c.412C> T (p.Gln138Ter) single nucleotide variant Likely pathogenic rs1057516339 GRCh37 Chromosome 9, 133339546: 133339546
40 ASS1 NM_000050.4(ASS1): c.567-1G> T single nucleotide variant Likely pathogenic rs1057517259 GRCh38 Chromosome 9, 130471484: 130471484
41 ASS1 NM_000050.4(ASS1): c.773+1G> A single nucleotide variant Likely pathogenic rs982830431 GRCh37 Chromosome 9, 133355188: 133355188
42 ASS1 NM_000050.4(ASS1): c.814C> T (p.Arg272Cys) single nucleotide variant Likely pathogenic rs762387914 GRCh37 Chromosome 9, 133355812: 133355812
43 ASS1 NM_000050.4(ASS1): c.978delG (p.Trp326Cysfs) deletion Likely pathogenic rs1057516338 GRCh38 Chromosome 9, 130494874: 130494874
44 ASS1 NM_000050.4(ASS1): c.1127+1G> A single nucleotide variant Likely pathogenic rs1057517402 GRCh37 Chromosome 9, 133370411: 133370411

Expression for Citrullinemia

Search GEO for disease gene expression data for Citrullinemia.

Pathways for Citrullinemia

GO Terms for Citrullinemia

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

id Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 8.92 ASS1 OTC PC SLC25A13

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

id Name GO ID Score Top Affiliating Genes
1 response to insulin GO:0032868 9.43 OTC PPARA
2 cellular amino acid biosynthetic process GO:0008652 9.43 ASL ASS1 OTC
3 gluconeogenesis GO:0006094 9.4 PC SLC25A13
4 negative regulation of leukocyte cell-cell adhesion GO:1903038 9.16 ASS1 PPARA
5 urea cycle GO:0000050 9.13 ASL ASS1 OTC
6 cellular amino acid metabolic process GO:0006520 9.07 OTC
7 arginine biosynthetic process via ornithine GO:0042450 9.02 ASL
8 arginine biosynthetic process GO:0006526 8.8 ASL ASS1 OTC

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

id Name GO ID Score Top Affiliating Genes
1 amino acid binding GO:0016597 8.62 ASS1 OTC

Sources for Citrullinemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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