CTLN1
MCID: CTR172
MIFTS: 57

Citrullinemia, Classic (CTLN1)

Categories: Blood diseases, Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Citrullinemia, Classic

MalaCards integrated aliases for Citrullinemia, Classic:

Name: Citrullinemia, Classic 58
Citrullinemia 58 12 77 26 38 13 56 45 15 74
Argininosuccinate Synthetase Deficiency 58 77 25 54 60 76
Citrullinemia Type I 25 54 60 76 30 6
Ass Deficiency 58 12 25 54 60 76
Classic Citrullinemia 25 54 60 76
Citrullinuria 58 54 26 76
Ctln1 58 25 60 76
Argininosuccinic Acid Synthetase Deficiency 25 60
Citrullinemia, Type I 58 41
Citrullinemia 1 54 76
Ctnl1 54 74
Cit 26 3
Deficiency of Citrulline-Aspartate Ligase 12
Argininosuccinic Acid Synthase Deficiency 60
Argininosuccinate Synthase Deficiency 60
Citrullinemia, Type I; Ctln1 58
Citrullinemia Classical 56
Citrullinemia Type 1 60

Characteristics:

Orphanet epidemiological data:

60
citrullinemia type i
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: All ages;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
citrullinemia, classic:
Onset and clinical course neonatal onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Inborn errors of metabolism


Summaries for Citrullinemia, Classic

NIH Rare Diseases : 54 Citrullinemia type 1 is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. There are four types. The classic, most severe form, occurs in newborns, while a milder, later-onset form occurs in children or adults. There's also a form that occurs during or after pregnancy, and a form with no symptoms. In the classic form, symptoms occur right after birth and include excessive sleepiness, poor appetite, vomiting, and irritability. As ammonia builds up, muscle weakness, seizures, coma, and death can occur. Citrullinemia is caused by mutations in the ASS1 gene and is inherited in an autosomal recessive pattern. This disorder is diagnosed through newborn screening and additional medical and genetic tests. Treatment includes removal of ammonia in the blood by medications and dialysis, as well as a lifelong low-protein diet. Liver transplantation is possible and, if done early in life, may eliminate the symptoms of the disorder. Left untreated, people with citrullinemia will build up very high levels of ammonia in the blood that can lead to brain damage and eventually death. Treated individuals can have normal growth and development.

MalaCards based summary : Citrullinemia, Classic, also known as citrullinemia, is related to citrullinemia, type ii, adult-onset and carbamoyl phosphate synthetase i deficiency, hyperammonemia due to, and has symptoms including seizures, ataxia and vomiting. An important gene associated with Citrullinemia, Classic is ASS1 (Argininosuccinate Synthase 1), and among its related pathways/superpathways are Arginine biosynthesis and Alanine, aspartate and glutamate metabolism. The drugs carbamide peroxide and Ornithine have been mentioned in the context of this disorder. Affiliated tissues include liver, brain and testes, and related phenotypes are stroke and intellectual disability

UniProtKB/Swiss-Prot : 76 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 : 77 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, Classic

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

(show top 50) (show all 108)
# Related Disease Score Top Affiliating Genes
1 citrullinemia, type ii, adult-onset 34.3 ASS1 SLC25A13
2 carbamoyl phosphate synthetase i deficiency, hyperammonemia due to 31.7 ASS1 NAGS OTC
3 argininemia 31.6 ASS1 NAGS OTC
4 ornithine transcarbamylase deficiency, hyperammonemia due to 31.3 ASS1 NAGS OTC SLC25A13
5 reye syndrome 30.0 ASS1 OTC
6 postpartum psychosis 29.9 ASS1 OTC
7 argininosuccinic aciduria 29.4 ASS1 NAGS OTC SLC25A13
8 urea cycle disorder 28.1 ACADS ASS1 NAGS OTC SLC25A13 SLC25A15
9 citrullinemia, type ii, neonatal-onset 12.7
10 acute neonatal citrullinemia type i 12.3
11 adult-onset citrullinemia type i 12.3
12 microcephaly 17, primary, autosomal recessive 12.1
13 primary microcephaly 11.6
14 microcephaly 11.6
15 primary autosomal recessive microcephaly 11.4
16 bipolar disorder 11.2
17 microlissencephaly 11.2
18 tremor 10.5
19 dementia 10.5
20 essential tremor 10.4
21 multiple system atrophy 1 10.3
22 parkinson disease, late-onset 10.3
23 supranuclear palsy, progressive, 1 10.3
24 patulous eustachian tube 10.3
25 movement disease 10.2
26 dystonia 10.2
27 hepatocellular carcinoma 10.2
28 frontotemporal dementia 10.1
29 depression 10.1
30 creutzfeldt-jakob disease 10.1
31 meningioma, familial 10.1
32 spinal meningioma 10.1
33 secretory meningioma 10.1
34 rem sleep behavior disorder 10.1
35 corticobasal degeneration 10.1
36 hepatitis 10.1
37 epilepsy 10.1
38 nonalcoholic steatohepatitis 10.1
39 encephalopathy 10.1
40 ocular motor apraxia 10.1
41 alzheimer disease 10.0
42 huntington disease 10.0
43 obsessive-compulsive disorder 10.0
44 cerebrotendinous xanthomatosis 10.0
45 major depressive disorder 10.0
46 infantile liver failure syndrome 1 10.0
47 hypertrophic pyloric stenosis 10.0
48 pyloric stenosis 10.0
49 sandifer syndrome 10.0
50 neuroendocrine carcinoma 10.0

Graphical network of the top 20 diseases related to Citrullinemia, Classic:



Diseases related to Citrullinemia, Classic

Symptoms & Phenotypes for Citrullinemia, Classic

Human phenotypes related to Citrullinemia, Classic:

33 (show all 20)
# Description HPO Frequency HPO Source Accession
1 stroke 33 occasional (7.5%) HP:0001297
2 intellectual disability 33 HP:0001249
3 seizures 33 HP:0001250
4 ataxia 33 HP:0001251
5 failure to thrive 33 HP:0001508
6 global developmental delay 33 HP:0001263
7 hepatomegaly 33 HP:0002240
8 vomiting 33 HP:0002013
9 irritability 33 HP:0000737
10 cirrhosis 33 HP:0001394
11 coma 33 HP:0001259
12 hyperammonemia 33 HP:0001987
13 lethargy 33 HP:0001254
14 oroticaciduria 33 HP:0003218
15 episodic ammonia intoxication 33 HP:0001951
16 hypoargininemia 33 HP:0005961
17 hyperglutaminemia 33 HP:0003217
18 protein avoidance 33 HP:0002038
19 respiratory alkalosis 33 HP:0001950
20 cerebral edema 33 HP:0002181

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
ataxia
coma
lethargy
cerebral edema
more
Abdomen Liver:
hepatomegaly
cirrhosis (in late-onset cases)

Neurologic Behavioral Psychiatric Manifestations:
irritability

Metabolic Features:
episodic ammonia intoxication
respiratory alkalosis

Growth Other:
failure to thrive

Abdomen Gastrointestinal:
vomiting
protein avoidance

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

Clinical features from OMIM:

215700

UMLS symptoms related to Citrullinemia, Classic:


seizures, ataxia, vomiting, lethargy

MGI Mouse Phenotypes related to Citrullinemia, Classic:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.35 ACADS ASS1 NAGS OTC SLC25A13
2 integument MP:0010771 8.92 ACADS ASS1 NAGS OTC

Drugs & Therapeutics for Citrullinemia, Classic

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

(show all 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
carbamide peroxide Approved Phase 2,Phase 1,Not Applicable 124-43-6
2
Ornithine Approved, Nutraceutical Phase 2,Phase 1 70-26-8, 3184-13-2 6262
3 Liver Extracts Phase 2,Phase 1
4 Hematinics Phase 2
5
Nitric Oxide Approved Not Applicable 10102-43-9 145068
6 Peripheral Nervous System Agents Not Applicable
7 Bronchodilator Agents Not Applicable
8 Free Radical Scavengers Not Applicable
9 Respiratory System Agents Not Applicable
10 Autonomic Agents Not Applicable
11 arginine Not Applicable
12 Protective Agents Not Applicable
13 Endothelium-Dependent Relaxing Factors Not Applicable
14 Vasodilator Agents Not Applicable
15 Antioxidants Not Applicable
16 Anti-Asthmatic Agents Not Applicable
17 Neurotransmitter Agents Not Applicable
18 Vaccines

Interventional clinical trials:


# 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 Hepatocyte Transplantation for Liver Based Metabolic Disorders Suspended NCT01345578 Phase 1 human hepatocyte transplantation
4 Citrulline Allo. Evaluation of Citrullinemia as a Marker of Bowel Damage After Allogeneic Bone Marrow Transplantation in Children Unknown status NCT00751452
5 Nitric Oxide Flux and Ureagenesis in Argininosuccinate Synthetase Deficiency (ASSD)(Citrullinemia I) Completed NCT01610089 Not Applicable
6 Microcirculation During Extracorporeal Circulation Completed NCT01389947
7 Neuroimaging and Neuropsychological Outcomes in Urea Cycle Disorders Recruiting NCT02935283
8 The NIH UNI Study: Urea Cycle Disorders, Nutrition and Immunity Terminated NCT01421888

Search NIH Clinical Center for Citrullinemia, Classic

Cochrane evidence based reviews: citrullinemia

Genetic Tests for Citrullinemia, Classic

Genetic tests related to Citrullinemia, Classic:

# Genetic test Affiliating Genes
1 Citrullinemia Type I 30 ASS1

Anatomical Context for Citrullinemia, Classic

MalaCards organs/tissues related to Citrullinemia, Classic:

42
Liver, Brain, Testes, Bone, Bone Marrow, Skin

Publications for Citrullinemia, Classic

Articles related to Citrullinemia, Classic:

(show top 50) (show all 211)
# Title Authors Year
1
The Lack of Hepatocyte Steatosis in Adult-onset Type II Citrullinemia Patients as Assessed by 7-year Interval Paired Biopsies. ( 30799367 )
2019
2
Citrullinemia Type 1: Behavioral Improvement with Late Liver Transplantation. ( 30848473 )
2019
3
Neonatal Lupus Erythematosus in a newborn with Citrullinemia. ( 30414373 )
2018
4
First report of carglumic acid in a patient with citrullinemia type 1 (argininosuccinate synthetase deficiency). ( 28741715 )
2018
5
Sudden development of adult-onset type II citrullinemia after total gastrectomy: a case report. ( 29368097 )
2018
6
Diagnosis of citrullinemia type 1 carriage after identification of mild citrullinemia on neonatal screening. ( 29573057 )
2018
7
Medium-chain triglycerides supplement therapy with a low-carbohydrate formula can supply energy and enhance ammonia detoxification in the hepatocytes of patients with adult-onset type II citrullinemia. ( 29651749 )
2018
8
Liver transplantation for neonatal-onset citrullinemia. ( 29726081 )
2018
9
Citrullinemia with an Atypical Presentation: Paroxysmal Hypoventilation Attacks. ( 30090157 )
2018
10
Adult-onset type II citrullinemia: Current insights and therapy. ( 30588060 )
2018
11
First manifestation of citrullinemia type I as Sandifer syndrome. ( 30035404 )
2017
12
Modelling urea-cycle disorder citrullinemia type 1 with disease-specific iPSCs. ( 28302489 )
2017
13
Corrigendum to "Modelling urea-cycle disorder citrullinemia type 1 with disease-specific iPSCs" [Biochem. Biophys. Res. Commun. 486(3) (2017) 613-619]. ( 28528898 )
2017
14
Identification of three novel mutations in fourteen patients with citrullinemia type 1. ( 28132756 )
2017
15
PRMT7 Interacts with ASS1 and Citrullinemia Mutations Disrupt the Interaction. ( 28587924 )
2017
16
Teaching NeuroImages: Reversible brain MRI lesions in adult-onset type II citrullinemia. ( 28847840 )
2017
17
General anesthesia in a patient with citrullinemia using Precedex as an adjunct to prevent delayed emergence. ( 27555199 )
2016
18
Anesthetic experience of an adult male with citrullinemia type II: a case report. ( 27724842 )
2016
19
Kinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate supplementation. ( 27287393 )
2016
20
Functional analysis of novel splicing and missense mutations identified in the ASS1 gene in classical citrullinemia patients. ( 25179242 )
2015
21
Case of adult-onset type II citrullinemia treated as schizophrenia for a long time. ( 25384800 )
2015
22
Steatogenesis in adult-onset type II citrullinemia is associated with down-regulation of PPARα. ( 25533124 )
2015
23
Prenatal diagnosis of citrullinemia type 1: a Chinese family with a novel mutation of the ASS1 gene. ( 23611581 )
2014
24
Three cases of adult-onset type II citrullinemia treated with different therapies: Efficacy of sodium pyruvate and low-carbohydrate diet. ( 23701493 )
2014
25
Molecular genetics of citrullinemia types I and II. ( 24508627 )
2014
26
Stroke as a rare manifestation of classical citrullinemia. ( 24627279 )
2014
27
The first successful live birth following preimplantation genetic diagnosis using PCR for type 1 citrullinemia. ( 24883299 )
2014
28
Improved standards for prenatal diagnosis of citrullinemia. ( 24889030 )
2014
29
Citrullinemia with an atypical presentation: persistent hiccups. Case report. ( 25192536 )
2014
30
Neonatal citrullinemia: novel, reversible neuroimaging findings correlated with ammonia level changes. ( 25266618 )
2014
31
Anesthetic management in a child with citrullinemia: a case report. ( 25289380 )
2014
32
Electroencephalography and transcranial Doppler ultrasonography in neonatal citrullinemia. ( 25443352 )
2014
33
Medium-chain triglyceride supplementation under a low-carbohydrate formula is a promising therapy for adult-onset type II citrullinemia. ( 27896073 )
2014
34
Citrullinemia type I and hypertrophic pyloric stenosis in a 1-month old male infant. ( 24765495 )
2013
35
Patient with adult-onset type II citrullinemia beginning 2 years after operation for duodenal malignant somatostatinoma: Indication for liver transplantation. ( 23617280 )
2013
36
Mutation spectrum of the ASS1 gene in Korean patients with citrullinemia type I. ( 23099195 )
2013
37
High prevalence of neonatal presentation in Korean patients with citrullinemia type 1, and their shared mutations. ( 23246278 )
2013
38
A 73-year-old patient with adult-onset type II citrullinemia successfully treated by sodium pyruvate and arginine. ( 23369404 )
2013
39
Citrullinemia stimulation test in the evaluation of the intestinal function. ( 23808451 )
2013
40
Liver-directed adeno-associated virus serotype 8 gene transfer rescues a lethal murine model of citrullinemia type 1. ( 24131980 )
2013
41
Liver transplantation versus conservative treatment for adult-onset type II citrullinemia: our experience and a review of the literature. ( 24182831 )
2013
42
Citrullinemia type 1: genetic diagnosis and prenatal diagnosis in subsequent pregnancy. ( 24222285 )
2013
43
A patient with type II citrullinemia who developed refractory complex seizure. ( 22554431 )
2013
44
First two cases of adult-onset type II citrullinemia successfully treated by deceased-donor liver transplantation in Japan. ( 22882336 )
2012
45
An elderly Japanese patient with adult-onset type II citrullinemia with a novel D493G mutation in the SLC25A13 gene. ( 22892490 )
2012
46
Molecular epidemiology of citrullinemia type I in a risk region of Argentina: a first step to preconception heterozygote detection. ( 23430935 )
2012
47
Unrecognized citrullinemia mimicking encephalitis in a 14-year-old boy: unexpected result through the use of a standardized lumbar puncture protocol. ( 22473243 )
2012
48
30-year follow-up of a patient with classic citrullinemia. ( 22494546 )
2012
49
Successful prospective management of neonatal citrullinemia. ( 22768672 )
2012
50
Transient fulminant liver failure as an initial presentation in citrullinemia type I. ( 21227727 )
2011

Variations for Citrullinemia, Classic

UniProtKB/Swiss-Prot genetic disease variations for Citrullinemia, Classic:

76 (show top 50) (show all 86)
# 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 rs147401731
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 rs936192871
42 ASS1 p.Arg127Gln VAR_058341 rs201623252
43 ASS1 p.Arg127Trp VAR_058342 rs771794639
44 ASS1 p.Leu160Pro VAR_058343 rs969835605
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, Classic:

6 (show top 50) (show all 364)
# Gene Variation Type Significance SNP ID Assembly Location
1 ASS1 ASS1, IVS15, G-C, -1 single nucleotide variant Pathogenic
2 ASS1 ASS1, EX5DEL deletion Pathogenic
3 ASS1 ASS1, EX6DEL deletion Pathogenic
4 ASS1 ASS1, IVS6AS, A-G, -2 deletion Pathogenic
5 ASS1 NM_000050.4(ASS1): c.40G> A (p.Gly14Ser) single nucleotide variant Likely pathogenic rs121908636 GRCh37 Chromosome 9, 133327655: 133327655
6 ASS1 NM_000050.4(ASS1): c.40G> A (p.Gly14Ser) single nucleotide variant Likely pathogenic rs121908636 GRCh38 Chromosome 9, 130452268: 130452268
7 ASS1 NM_000050.4(ASS1): c.470G> A (p.Arg157His) single nucleotide variant Conflicting interpretations of pathogenicity rs121908637 GRCh37 Chromosome 9, 133342161: 133342161
8 ASS1 NM_000050.4(ASS1): c.470G> A (p.Arg157His) single nucleotide variant Conflicting interpretations of pathogenicity rs121908637 GRCh38 Chromosome 9, 130466774: 130466774
9 ASS1 NM_000050.4(ASS1): c.539G> A (p.Ser180Asn) single nucleotide variant Pathogenic/Likely pathogenic rs121908638 GRCh37 Chromosome 9, 133346264: 133346264
10 ASS1 NM_000050.4(ASS1): c.539G> A (p.Ser180Asn) single nucleotide variant Pathogenic/Likely pathogenic rs121908638 GRCh38 Chromosome 9, 130470877: 130470877
11 ASS1 NM_000050.4(ASS1): c.970G> A (p.Gly324Ser) single nucleotide variant Pathogenic/Likely pathogenic rs121908639 GRCh37 Chromosome 9, 133364851: 133364851
12 ASS1 NM_000050.4(ASS1): c.970G> A (p.Gly324Ser) single nucleotide variant Pathogenic/Likely pathogenic rs121908639 GRCh38 Chromosome 9, 130489464: 130489464
13 ASS1 NM_000050.4(ASS1): c.1087C> T (p.Arg363Trp) single nucleotide variant Pathogenic/Likely pathogenic rs121908640 GRCh37 Chromosome 9, 133370370: 133370370
14 ASS1 NM_000050.4(ASS1): c.1087C> T (p.Arg363Trp) single nucleotide variant Pathogenic/Likely pathogenic rs121908640 GRCh38 Chromosome 9, 130494983: 130494983
15 ASS1 NM_000050.4(ASS1): c.1168G> A (p.Gly390Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121908641 GRCh37 Chromosome 9, 133374932: 133374932
16 ASS1 NM_000050.4(ASS1): c.1168G> A (p.Gly390Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121908641 GRCh38 Chromosome 9, 130499545: 130499545
17 ASS1 NM_000050.4(ASS1): c.910C> T (p.Arg304Trp) single nucleotide variant Pathogenic rs121908642 GRCh37 Chromosome 9, 133364791: 133364791
18 ASS1 NM_000050.4(ASS1): c.910C> T (p.Arg304Trp) single nucleotide variant Pathogenic rs121908642 GRCh38 Chromosome 9, 130489404: 130489404
19 ASS1 NM_000050.4(ASS1): c.53C> T (p.Ser18Leu) single nucleotide variant Uncertain significance rs121908643 GRCh37 Chromosome 9, 133327668: 133327668
20 ASS1 NM_000050.4(ASS1): c.53C> T (p.Ser18Leu) single nucleotide variant Uncertain significance rs121908643 GRCh38 Chromosome 9, 130452281: 130452281
21 ASS1 NM_000050.4(ASS1): c.256C> T (p.Arg86Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121908644 GRCh37 Chromosome 9, 133333869: 133333869
22 ASS1 NM_000050.4(ASS1): c.256C> T (p.Arg86Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121908644 GRCh38 Chromosome 9, 130458482: 130458482
23 ASS1 NM_000050.4(ASS1): c.835C> T (p.Arg279Ter) single nucleotide variant Likely pathogenic rs121908645 GRCh37 Chromosome 9, 133355833: 133355833
24 ASS1 NM_000050.4(ASS1): c.835C> T (p.Arg279Ter) single nucleotide variant Likely pathogenic rs121908645 GRCh38 Chromosome 9, 130480446: 130480446
25 ASS1 NM_000050.4(ASS1): c.323G> T (p.Arg108Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs35269064 GRCh37 Chromosome 9, 133333936: 133333936
26 ASS1 NM_000050.4(ASS1): c.323G> T (p.Arg108Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs35269064 GRCh38 Chromosome 9, 130458549: 130458549
27 ASS1 NM_000050.4(ASS1): c.535T> C (p.Trp179Arg) single nucleotide variant Pathogenic rs121908646 GRCh37 Chromosome 9, 133346260: 133346260
28 ASS1 NM_000050.4(ASS1): c.535T> C (p.Trp179Arg) single nucleotide variant Pathogenic rs121908646 GRCh38 Chromosome 9, 130470873: 130470873
29 ASS1 NM_000050.4(ASS1): c.1085G> T (p.Gly362Val) single nucleotide variant Pathogenic rs121908647 GRCh37 Chromosome 9, 133370368: 133370368
30 ASS1 NM_000050.4(ASS1): c.1085G> T (p.Gly362Val) single nucleotide variant Pathogenic rs121908647 GRCh38 Chromosome 9, 130494981: 130494981
31 ASS1 ASS1, IVS6, G-A, +5 single nucleotide variant Pathogenic
32 ASS1 NM_000050.4(ASS1): c.928A> C (p.Lys310Gln) single nucleotide variant Uncertain significance rs121908648 GRCh37 Chromosome 9, 133364809: 133364809
33 ASS1 NM_000050.4(ASS1): c.928A> C (p.Lys310Gln) single nucleotide variant Uncertain significance rs121908648 GRCh38 Chromosome 9, 130489422: 130489422
34 SLC25A13 NM_014251.2(SLC25A13): c.1064G> A (p.Arg355Gln) single nucleotide variant Uncertain significance rs398122839 GRCh37 Chromosome 7, 95813702: 95813702
35 SLC25A13 NM_014251.2(SLC25A13): c.1064G> A (p.Arg355Gln) single nucleotide variant Uncertain significance rs398122839 GRCh38 Chromosome 7, 96184390: 96184390
36 ASS1 NM_000050.4(ASS1): c.496-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs398123130 GRCh37 Chromosome 9, 133346219: 133346219
37 ASS1 NM_000050.4(ASS1): c.496-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs398123130 GRCh38 Chromosome 9, 130470832: 130470832
38 ASS1 NM_000050.4(ASS1): c.501C> T (p.His167=) single nucleotide variant Benign/Likely benign rs10901072 GRCh37 Chromosome 9, 133346226: 133346226
39 ASS1 NM_000050.4(ASS1): c.501C> T (p.His167=) single nucleotide variant Benign/Likely benign rs10901072 GRCh38 Chromosome 9, 130470839: 130470839
40 ASS1 NM_000050.4(ASS1): c.597+18A> G single nucleotide variant Benign rs652313 GRCh37 Chromosome 9, 133346920: 133346920
41 ASS1 NM_000050.4(ASS1): c.597+18A> G single nucleotide variant Benign rs652313 GRCh38 Chromosome 9, 130471533: 130471533
42 ASS1 NM_000050.4(ASS1): c.787G> A (p.Val263Met) single nucleotide variant Pathogenic/Likely pathogenic rs192838388 GRCh37 Chromosome 9, 133355785: 133355785
43 ASS1 NM_000050.4(ASS1): c.787G> A (p.Val263Met) single nucleotide variant Pathogenic/Likely pathogenic rs192838388 GRCh38 Chromosome 9, 130480398: 130480398
44 ASS1 NM_000050.4(ASS1): c.794G> A (p.Arg265His) single nucleotide variant Pathogenic/Likely pathogenic rs398123131 GRCh37 Chromosome 9, 133355792: 133355792
45 ASS1 NM_000050.4(ASS1): c.794G> A (p.Arg265His) single nucleotide variant Pathogenic/Likely pathogenic rs398123131 GRCh38 Chromosome 9, 130480405: 130480405
46 ASS1 NM_000050.4(ASS1): c.836G> A (p.Arg279Gln) single nucleotide variant Pathogenic/Likely pathogenic rs371265106 GRCh37 Chromosome 9, 133355834: 133355834
47 ASS1 NM_000050.4(ASS1): c.836G> A (p.Arg279Gln) single nucleotide variant Pathogenic/Likely pathogenic rs371265106 GRCh38 Chromosome 9, 130480447: 130480447
48 ASS1 NM_000050.4(ASS1): c.876T> C (p.His292=) single nucleotide variant Benign/Likely benign rs1057484 GRCh37 Chromosome 9, 133364757: 133364757
49 ASS1 NM_000050.4(ASS1): c.876T> C (p.His292=) single nucleotide variant Benign/Likely benign rs1057484 GRCh38 Chromosome 9, 130489370: 130489370
50 ASS1 NM_000050.4(ASS1): c.961G> A (p.Val321Met) single nucleotide variant Uncertain significance rs727503813 GRCh37 Chromosome 9, 133364842: 133364842

Expression for Citrullinemia, Classic

Search GEO for disease gene expression data for Citrullinemia, Classic.

Pathways for Citrullinemia, Classic

Pathways related to Citrullinemia, Classic according to KEGG:

38
# Name Kegg Source Accession
1 Arginine biosynthesis hsa00220
2 Alanine, aspartate and glutamate metabolism hsa00250

Pathways related to Citrullinemia, Classic according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.38 ACADS ASS1 NAGS OTC SLC25A13 SLC25A15
2
Show member pathways
11.78 ACADS ASS1 NAGS OTC
3 11.28 ASS1 OTC
4
Show member pathways
10.55 ASS1 NAGS OTC
5
Show member pathways
10.18 ASS1 NAGS OTC

GO Terms for Citrullinemia, Classic

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 9.33 OTC SLC25A13 SLC25A15
2 mitochondrial matrix GO:0005759 9.13 ACADS NAGS OTC
3 mitochondrion GO:0005739 9.1 ACADS ASS1 NAGS OTC SLC25A13 SLC25A15

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

# Name GO ID Score Top Affiliating Genes
1 liver development GO:0001889 9.37 ASS1 OTC
2 cellular amino acid biosynthetic process GO:0008652 9.32 ASS1 OTC
3 response to zinc ion GO:0010043 9.26 ASS1 OTC
4 midgut development GO:0007494 9.16 ASS1 OTC
5 arginine biosynthetic process GO:0006526 9.13 ASS1 NAGS OTC
6 urea cycle GO:0000050 8.92 ASS1 NAGS OTC SLC25A15

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

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

Sources for Citrullinemia, Classic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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