CTLN1
MCID: CTR172
MIFTS: 55

Citrullinemia, Classic (CTLN1)

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

Aliases & Classifications for Citrullinemia, Classic

MalaCards integrated aliases for Citrullinemia, Classic:

Name: Citrullinemia, Classic 57
Citrullinemia 57 12 76 25 37 13 55 44 15 73
Argininosuccinate Synthetase Deficiency 57 76 24 53 59 75
Citrullinemia Type I 24 53 59 75 29 6
Ass Deficiency 57 12 24 53 59 75
Classic Citrullinemia 24 53 59 75
Citrullinuria 57 53 25 75
Ctln1 57 24 59 75
Argininosuccinic Acid Synthetase Deficiency 24 59
Citrullinemia, Type I 57 40
Citrullinemia 1 53 75
Ctnl1 53 73
Cit 25 3
Deficiency of Citrulline-Aspartate Ligase 12
Argininosuccinic Acid Synthase Deficiency 59
Argininosuccinate Synthase Deficiency 59
Citrullinemia, Type I; Ctln1 57
Citrullinemia Classical 55
Citrullinemia Type 1 59

Characteristics:

Orphanet epidemiological data:

59
citrullinemia type i
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: All ages;

OMIM:

57
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:

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


Classifications:

Orphanet: 59  
Inborn errors of metabolism


Summaries for Citrullinemia, Classic

NIH Rare Diseases : 53 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 Ornithine and Liver Extracts have been mentioned in the context of this disorder. Affiliated tissues include liver, brain and testes, and related phenotypes are intellectual disability and seizures

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.

UniProtKB/Swiss-Prot : 75 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 : 76 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 94)
# Related Disease Score Top Affiliating Genes
1 citrullinemia, type ii, adult-onset 34.2 ASS1 SLC25A13
2 carbamoyl phosphate synthetase i deficiency, hyperammonemia due to 31.9 ASS1 NAGS OTC
3 argininemia 31.9 ASS1 NAGS OTC
4 ornithine transcarbamylase deficiency, hyperammonemia due to 31.7 ASS1 NAGS OTC SLC25A13
5 reye syndrome 30.1 ASS1 OTC
6 postpartum psychosis 30.0 ASS1 OTC
7 argininosuccinic aciduria 29.8 ASS1 NAGS OTC SLC25A13
8 hyperlysinemia, type i 29.8 AASS OTC
9 urea cycle disorder 28.9 ACADS ASS1 NAGS OTC SLC25A13 SLC25A15
10 citrullinemia, type ii, neonatal-onset 12.5
11 acute neonatal citrullinemia type i 12.3
12 adult-onset citrullinemia type i 12.3
13 microcephaly 17, primary, autosomal recessive 11.9
14 microcephaly 11.6
15 primary microcephaly 11.6
16 primary autosomal recessive microcephaly 11.3
17 bipolar disorder 11.2
18 microlissencephaly 11.2
19 tremor 10.4
20 dementia 10.3
21 multiple system atrophy 1 10.2
22 essential tremor 10.2
23 supranuclear palsy, progressive, 1 10.2
24 movement disease 10.2
25 dystonia 10.2
26 hepatocellular carcinoma 10.1
27 parkinson disease, late-onset 10.1
28 depression 10.1
29 creutzfeldt-jakob disease 10.1
30 frontotemporal dementia 10.1
31 patulous eustachian tube 10.1
32 rem sleep behavior disorder 10.1
33 corticobasal degeneration 10.1
34 frontotemporal dementia with parkinsonism-17 10.1
35 ocular motor apraxia 10.1
36 hepatitis 10.0
37 epilepsy 10.0
38 orotic aciduria 10.0 ASS1 OTC
39 obsessive-compulsive disorder 10.0
40 cerebrotendinous xanthomatosis 10.0
41 infantile liver failure syndrome 1 10.0
42 hypertrophic pyloric stenosis 10.0
43 pyloric stenosis 10.0
44 sandifer syndrome 10.0
45 brain edema 9.9 OTC SLC25A13
46 schizophrenia 9.9
47 maple syrup urine disease 9.9
48 pyruvate carboxylase deficiency 9.9
49 liver cirrhosis 9.9
50 liver disease 9.9

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



Diseases related to Citrullinemia, Classic

Symptoms & Phenotypes for Citrullinemia, Classic

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Citrullinemia, Classic:

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

UMLS symptoms related to Citrullinemia, Classic:


seizures, ataxia, vomiting, lethargy

MGI Mouse Phenotypes related to Citrullinemia, Classic:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.02 ACADS ASS1 NAGS OTC SLC25A13

Drugs & Therapeutics for Citrullinemia, Classic

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

(show all 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ornithine Approved, Nutraceutical Phase 2,Phase 1 3184-13-2, 70-26-8 6262
2 Liver Extracts Phase 2,Phase 1
3 Hematinics Phase 2
4
Nitric Oxide Approved Not Applicable 10102-43-9 145068
5 Protective Agents Not Applicable
6 Vasodilator Agents Not Applicable
7 Anti-Asthmatic Agents Not Applicable
8 Peripheral Nervous System Agents Not Applicable
9 Autonomic Agents Not Applicable
10 Antioxidants Not Applicable
11 Bronchodilator Agents Not Applicable
12 arginine Not Applicable
13 Respiratory System Agents Not Applicable
14 Free Radical Scavengers Not Applicable
15 Neurotransmitter Agents Not Applicable
16 Endothelium-Dependent Relaxing Factors Not Applicable
17 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 29 ASS1

Anatomical Context for Citrullinemia, Classic

MalaCards organs/tissues related to Citrullinemia, Classic:

41
Liver, Brain, Testes, Endothelial

Publications for Citrullinemia, Classic

Articles related to Citrullinemia, Classic:

(show all 34)
# Title Authors Year
1
Neonatal Lupus Erythematosus in a newborn with Citrullinemia. ( 30414373 )
2018
2
Sudden development of adult-onset type II citrullinemia after total gastrectomy: a case report. ( 29368097 )
2018
3
Diagnosis of citrullinemia type 1 carriage after identification of mild citrullinemia on neonatal screening. ( 29573057 )
2018
4
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
5
Liver transplantation for neonatal-onset citrullinemia. ( 29726081 )
2018
6
Citrullinemia with an Atypical Presentation: Paroxysmal Hypoventilation Attacks. ( 30090157 )
2018
7
First report of carglumic acid in a patient with citrullinemia type 1 (argininosuccinate synthetase deficiency). ( 28741715 )
2017
8
First manifestation of citrullinemia type I as Sandifer syndrome. ( 30035404 )
2017
9
Kinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate supplementation. ( 27287393 )
2016
10
Transient fulminant liver failure as an initial presentation in citrullinemia type I. ( 21227727 )
2011
11
Favorable long-term outcome following severe neonatal hyperammonemic coma in a patient with argininosuccinate synthetase deficiency. ( 23430833 )
2011
12
Citrullinemia type I: molecular screening of the ASS1 gene by exonic sequencing and targeted mutation analysis. ( 20690080 )
2010
13
An adult with type 2 citrullinemia presenting in Europe. ( 18367750 )
2008
14
Prenatal diagnosis of citrullinemia and argininosuccinic aciduria: evidence for a transmission ratio distortion in citrullinemia. ( 16475226 )
2006
15
Postpartum "psychosis" in mild argininosuccinate synthetase deficiency. ( 15863597 )
2005
16
Argininosuccinate synthetase deficiency: mutation analysis in 3 Thai patients. ( 16124451 )
2005
17
Incidence and distribution of argininosuccinate synthetase deficiency in human cancers: a method for identifying cancers sensitive to arginine deprivation. ( 14770441 )
2004
18
Clearance of amino acids by hemodialysis in argininosuccinate synthetase deficiency. ( 15069407 )
2004
19
Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type 1). ( 14680976 )
2003
20
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
21
MRI in a case of adult-onset citrullinemia. ( 11688701 )
2001
22
Correction of argininosuccinate synthetase (AS) deficiency in a murine model of citrullinemia with recombinant adenovirus carrying human AS cDNA. ( 11083500 )
2000
23
An adult-onset case of argininosuccinate synthetase deficiency presenting with atypical citrullinemia. ( 10435367 )
1999
24
[Argininosuccinate synthetase deficiency]. ( 9590020 )
1998
25
Complete neurological recovery of an adult patient with type II citrullinemia after living related partial liver transplantation. ( 8970629 )
1996
26
Long-term survival of patients with argininosuccinate synthetase deficiency. ( 8523191 )
1995
27
Effects of glucagon on urinary excretion of urea and on plasma ammonia level in argininosuccinate synthetase deficiency. ( 8199693 )
1994
28
Argininosuccinate synthetase deficiency and reye syndrome-like presentation. ( 15815320 )
1990
29
Animal model of human disease. Citrullinemia (argininosuccinate synthetase deficiency). ( 2596577 )
1989
30
Citrullinemia: early diagnosis & successful management of an otherwise lethal disorder. ( 2583813 )
1989
31
Adult-type citrullinemia. ( 2735192 )
1989
32
A non-enzymatic method for identification of citrullinemia heterozygotes. ( 2736797 )
1989
33
Molecular analysis of argininosuccinate synthetase deficiency in human fibroblasts. ( 7174798 )
1982
34
Citrullinemia, argininosuccinate synthetase deficiency. Repository identification No. GM-1044. ( 891263 )
1977

Variations for Citrullinemia, Classic

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

75 (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, 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.40G> A (p.Gly14Ser) single nucleotide variant Pathogenic rs121908636 GRCh38 Chromosome 9, 130452268: 130452268
6 ASS1 NM_000050.4(ASS1): c.470G> A (p.Arg157His) single nucleotide variant Conflicting interpretations of pathogenicity rs121908637 GRCh37 Chromosome 9, 133342161: 133342161
7 ASS1 NM_000050.4(ASS1): c.470G> A (p.Arg157His) single nucleotide variant Conflicting interpretations of pathogenicity rs121908637 GRCh38 Chromosome 9, 130466774: 130466774
8 ASS1 NM_000050.4(ASS1): c.539G> A (p.Ser180Asn) single nucleotide variant Pathogenic/Likely pathogenic rs121908638 GRCh37 Chromosome 9, 133346264: 133346264
9 ASS1 NM_000050.4(ASS1): c.539G> A (p.Ser180Asn) single nucleotide variant Pathogenic/Likely pathogenic rs121908638 GRCh38 Chromosome 9, 130470877: 130470877
10 ASS1 NM_000050.4(ASS1): c.970G> A (p.Gly324Ser) single nucleotide variant Pathogenic/Likely pathogenic rs121908639 GRCh37 Chromosome 9, 133364851: 133364851
11 ASS1 NM_000050.4(ASS1): c.970G> A (p.Gly324Ser) single nucleotide variant Pathogenic/Likely pathogenic rs121908639 GRCh38 Chromosome 9, 130489464: 130489464
12 ASS1 NM_000050.4(ASS1): c.1087C> T (p.Arg363Trp) single nucleotide variant Pathogenic/Likely pathogenic rs121908640 GRCh37 Chromosome 9, 133370370: 133370370
13 ASS1 NM_000050.4(ASS1): c.1087C> T (p.Arg363Trp) single nucleotide variant Pathogenic/Likely pathogenic rs121908640 GRCh38 Chromosome 9, 130494983: 130494983
14 ASS1 NM_000050.4(ASS1): c.1168G> A (p.Gly390Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121908641 GRCh37 Chromosome 9, 133374932: 133374932
15 ASS1 NM_000050.4(ASS1): c.1168G> A (p.Gly390Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121908641 GRCh38 Chromosome 9, 130499545: 130499545
16 ASS1 NM_000050.4(ASS1): c.910C> T (p.Arg304Trp) single nucleotide variant Pathogenic rs121908642 GRCh37 Chromosome 9, 133364791: 133364791
17 ASS1 NM_000050.4(ASS1): c.910C> T (p.Arg304Trp) single nucleotide variant Pathogenic rs121908642 GRCh38 Chromosome 9, 130489404: 130489404
18 ASS1 NM_000050.4(ASS1): c.53C> T (p.Ser18Leu) single nucleotide variant Uncertain significance rs121908643 GRCh37 Chromosome 9, 133327668: 133327668
19 ASS1 NM_000050.4(ASS1): c.53C> T (p.Ser18Leu) single nucleotide variant Uncertain significance rs121908643 GRCh38 Chromosome 9, 130452281: 130452281
20 ASS1 NM_000050.4(ASS1): c.256C> T (p.Arg86Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121908644 GRCh37 Chromosome 9, 133333869: 133333869
21 ASS1 NM_000050.4(ASS1): c.256C> T (p.Arg86Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121908644 GRCh38 Chromosome 9, 130458482: 130458482
22 ASS1 NM_000050.4(ASS1): c.835C> T (p.Arg279Ter) single nucleotide variant Likely pathogenic rs121908645 GRCh37 Chromosome 9, 133355833: 133355833
23 ASS1 NM_000050.4(ASS1): c.835C> T (p.Arg279Ter) single nucleotide variant Likely pathogenic rs121908645 GRCh38 Chromosome 9, 130480446: 130480446
24 ASS1 NM_000050.4(ASS1): c.323G> T (p.Arg108Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs35269064 GRCh37 Chromosome 9, 133333936: 133333936
25 ASS1 NM_000050.4(ASS1): c.323G> T (p.Arg108Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs35269064 GRCh38 Chromosome 9, 130458549: 130458549
26 ASS1 NM_000050.4(ASS1): c.535T> C (p.Trp179Arg) single nucleotide variant Pathogenic rs121908646 GRCh37 Chromosome 9, 133346260: 133346260
27 ASS1 NM_000050.4(ASS1): c.535T> C (p.Trp179Arg) single nucleotide variant Pathogenic rs121908646 GRCh38 Chromosome 9, 130470873: 130470873
28 ASS1 NM_000050.4(ASS1): c.1085G> T (p.Gly362Val) single nucleotide variant Pathogenic rs121908647 GRCh37 Chromosome 9, 133370368: 133370368
29 ASS1 NM_000050.4(ASS1): c.1085G> T (p.Gly362Val) single nucleotide variant Pathogenic rs121908647 GRCh38 Chromosome 9, 130494981: 130494981
30 ASS1 ASS1, IVS6, G-A, +5 single nucleotide variant Pathogenic
31 ASS1 ASS1, IVS15, G-C, -1 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.793C> T (p.Arg265Cys) single nucleotide variant Pathogenic rs148918985 GRCh37 Chromosome 9, 133355791: 133355791
45 ASS1 NM_000050.4(ASS1): c.793C> T (p.Arg265Cys) single nucleotide variant Pathogenic rs148918985 GRCh38 Chromosome 9, 130480404: 130480404
46 ASS1 NM_000050.4(ASS1): c.794G> A (p.Arg265His) single nucleotide variant Pathogenic/Likely pathogenic rs398123131 GRCh37 Chromosome 9, 133355792: 133355792
47 ASS1 NM_000050.4(ASS1): c.794G> A (p.Arg265His) single nucleotide variant Pathogenic/Likely pathogenic rs398123131 GRCh38 Chromosome 9, 130480405: 130480405
48 ASS1 NM_000050.4(ASS1): c.836G> A (p.Arg279Gln) single nucleotide variant Pathogenic/Likely pathogenic rs371265106 GRCh37 Chromosome 9, 133355834: 133355834
49 ASS1 NM_000050.4(ASS1): c.836G> A (p.Arg279Gln) single nucleotide variant Pathogenic/Likely pathogenic rs371265106 GRCh38 Chromosome 9, 130480447: 130480447
50 ASS1 NM_000050.4(ASS1): c.876T> C (p.His292=) single nucleotide variant Benign/Likely benign rs1057484 GRCh37 Chromosome 9, 133364757: 133364757

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:

37
# 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
13.43 AASS ACADS ASS1 NAGS OTC SLC25A13
2
Show member pathways
13.12 AASS ASS1 NAGS OTC SLC25A15
3
Show member pathways
11.78 ACADS ASS1 NAGS OTC
4 11.33 ASS1 OTC
5
Show member pathways
10.55 ASS1 NAGS OTC
6
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 9.26 AASS ACADS NAGS OTC
3 mitochondrion GO:0005739 9.17 AASS ACADS ASS1 NAGS OTC SLC25A13

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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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