MCID: CTR172
MIFTS: 55

Citrullinemia, Classic

Categories: Genetic diseases, Rare diseases, Metabolic 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

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, Classic, also known as citrullinemia, is related to citrullinemia, type ii, adult-onset and postpartum psychosis, and has symptoms including ataxia, lethargy and seizures. 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 Acetohydroxamic Acid and Ornithine have been mentioned in the context of this disorder. Affiliated tissues include liver, bone and bone marrow, and related phenotypes are intellectual disability and seizures

Disease Ontology : 12 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.

NIH Rare Diseases : 53 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.

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 67)
# Related Disease Score Top Affiliating Genes
1 citrullinemia, type ii, adult-onset 34.2 ASS1 SLC25A13
2 postpartum psychosis 29.9 ASS1 OTC
3 argininosuccinic aciduria 29.1 ASL ASS1 OTC
4 citrullinemia, type ii, neonatal-onset 12.4
5 acute neonatal citrullinemia type i 12.1
6 adult-onset citrullinemia type i 12.1
7 microcephaly 11.5
8 schizophrenia 11.4
9 microcephaly 17, primary, autosomal recessive 11.3
10 bipolar disorder 11.0
11 microlissencephaly 11.0
12 autosomal recessive primary microcephaly 10.9
13 type i 10.4
14 tremor 10.2
15 dementia 10.1
16 carbamoyl phosphate synthetase i deficiency, hyperammonemia due to 10.1 ASS1 OTC
17 aging 10.1
18 essential tremor 10.1
19 carbonic anhydrase va deficiency, hyperammonemia due to 10.1 ASS1 OTC
20 dystonia 10.0
21 depression 10.0
22 reye syndrome 10.0 ASS1 OTC
23 acyl-coa dehydrogenase, short-chain, deficiency of 10.0 ACADS SLC25A13
24 multiple system atrophy 1 10.0
25 supranuclear palsy, progressive, 1 9.9
26 classic progressive supranuclear palsy syndrome 9.9
27 acyl-coa dehydrogenase, very long-chain, deficiency of 9.9 ACADS SLC25A13
28 creutzfeldt-jakob disease 9.8
29 obsessive-compulsive disorder 9.8
30 cerebritis 9.8
31 infantile liver failure syndrome 1 9.8
32 hypertrophic pyloric stenosis 9.8
33 pyloric stenosis 9.8
34 lysinuric protein intolerance 9.7 ASL ASS1
35 propionic acidemia 9.7 ASS1 OTC
36 alzheimer disease 9.7
37 dementia, lewy body 9.7
38 gilles de la tourette syndrome 9.7
39 parkinson disease, late-onset 9.7
40 cerebrotendinous xanthomatosis 9.7
41 wilson disease 9.7
42 fatal familial insomnia 9.7
43 frontotemporal dementia 9.7
44 xanthomatosis 9.7
45 major depressive disorder 9.7
46 mantle cell lymphoma 9.7
47 thrombocytopenia 9.7
48 fetal alcohol syndrome 9.7
49 cervical dystonia 9.7
50 lymphoma 9.7

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:


ataxia, lethargy, seizures, vomiting

MGI Mouse Phenotypes related to Citrullinemia, Classic:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.55 ACADS ASL ASS1 OTC SLC25A13
2 integument MP:0010771 9.26 ACADS ASL ASS1 OTC
3 renal/urinary system MP:0005367 8.92 ACADS ASL 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
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
3 Hematinics Phase 2
4 Liver Extracts Phase 2,Phase 1
5
Nitric Oxide Approved Not Applicable 10102-43-9 145068 160954
6 Anti-Asthmatic Agents Not Applicable
7 Antioxidants Not Applicable
8 Autonomic Agents Not Applicable
9 Bronchodilator Agents Not Applicable
10 Endothelium-Dependent Relaxing Factors Not Applicable
11 Neurotransmitter Agents Not Applicable
12 Peripheral Nervous System Agents Not Applicable
13 Protective Agents Not Applicable
14 Respiratory System Agents Not Applicable
15 Vasodilator Agents Not Applicable
16 Vaccines
17 arginine Nutraceutical Not Applicable

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 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 Not Applicable
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, 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, Bone, Bone Marrow

Publications for Citrullinemia, Classic

Articles related to Citrullinemia, Classic:

(show all 15)
# Title Authors Year
1
First report of carglumic acid in a patient with citrullinemia type 1 (argininosuccinate synthetase deficiency). ( 28741715 )
2017
2
Kinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate supplementation. ( 27287393 )
2016
3
Postpartum "psychosis" in mild argininosuccinate synthetase deficiency. ( 15863597 )
2005
4
Argininosuccinate synthetase deficiency: mutation analysis in 3 Thai patients. ( 16124451 )
2005
5
Incidence and distribution of argininosuccinate synthetase deficiency in human cancers: a method for identifying cancers sensitive to arginine deprivation. ( 14770441 )
2004
6
Clearance of amino acids by hemodialysis in argininosuccinate synthetase deficiency. ( 15069407 )
2004
7
Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type 1). ( 14680976 )
2003
8
An adult-onset case of argininosuccinate synthetase deficiency presenting with atypical citrullinemia. ( 10435367 )
1999
9
[Argininosuccinate synthetase deficiency]. ( 9590020 )
1998
10
Long-term survival of patients with argininosuccinate synthetase deficiency. ( 8523191 )
1995
11
Effects of glucagon on urinary excretion of urea and on plasma ammonia level in argininosuccinate synthetase deficiency. ( 8199693 )
1994
12
Argininosuccinate synthetase deficiency and reye syndrome-like presentation. ( 15815320 )
1990
13
Animal model of human disease. Citrullinemia (argininosuccinate synthetase deficiency). ( 2596577 )
1989
14
Molecular analysis of argininosuccinate synthetase deficiency in human fibroblasts. ( 7174798 )
1982
15
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
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 274)
# 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 Pathogenic rs121908636 GRCh37 Chromosome 9, 133327655: 133327655
6 ASS1 NM_000050.4(ASS1): c.40G> A (p.Gly14Ser) single nucleotide variant Pathogenic rs121908636 GRCh38 Chromosome 9, 130452268: 130452268
7 ASS1 NM_000050.4(ASS1): c.539G> A (p.Ser180Asn) single nucleotide variant Pathogenic/Likely pathogenic rs121908638 GRCh37 Chromosome 9, 133346264: 133346264
8 ASS1 NM_000050.4(ASS1): c.539G> A (p.Ser180Asn) single nucleotide variant Pathogenic/Likely pathogenic rs121908638 GRCh38 Chromosome 9, 130470877: 130470877
9 ASS1 NM_000050.4(ASS1): c.970G> A (p.Gly324Ser) single nucleotide variant Pathogenic/Likely pathogenic rs121908639 GRCh37 Chromosome 9, 133364851: 133364851
10 ASS1 NM_000050.4(ASS1): c.970G> A (p.Gly324Ser) single nucleotide variant Pathogenic/Likely pathogenic rs121908639 GRCh38 Chromosome 9, 130489464: 130489464
11 ASS1 NM_000050.4(ASS1): c.1087C> T (p.Arg363Trp) single nucleotide variant Pathogenic/Likely pathogenic rs121908640 GRCh37 Chromosome 9, 133370370: 133370370
12 ASS1 NM_000050.4(ASS1): c.1087C> T (p.Arg363Trp) single nucleotide variant Pathogenic/Likely pathogenic rs121908640 GRCh38 Chromosome 9, 130494983: 130494983
13 ASS1 NM_000050.4(ASS1): c.1168G> A (p.Gly390Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121908641 GRCh37 Chromosome 9, 133374932: 133374932
14 ASS1 NM_000050.4(ASS1): c.1168G> A (p.Gly390Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121908641 GRCh38 Chromosome 9, 130499545: 130499545
15 ASS1 NM_000050.4(ASS1): c.910C> T (p.Arg304Trp) single nucleotide variant Pathogenic rs121908642 GRCh37 Chromosome 9, 133364791: 133364791
16 ASS1 NM_000050.4(ASS1): c.910C> T (p.Arg304Trp) single nucleotide variant Pathogenic rs121908642 GRCh38 Chromosome 9, 130489404: 130489404
17 ASS1 NM_000050.4(ASS1): c.53C> T (p.Ser18Leu) single nucleotide variant Pathogenic rs121908643 GRCh37 Chromosome 9, 133327668: 133327668
18 ASS1 NM_000050.4(ASS1): c.53C> T (p.Ser18Leu) single nucleotide variant Pathogenic rs121908643 GRCh38 Chromosome 9, 130452281: 130452281
19 ASS1 NM_000050.4(ASS1): c.256C> T (p.Arg86Cys) single nucleotide variant Pathogenic rs121908644 GRCh37 Chromosome 9, 133333869: 133333869
20 ASS1 NM_000050.4(ASS1): c.256C> T (p.Arg86Cys) single nucleotide variant Pathogenic rs121908644 GRCh38 Chromosome 9, 130458482: 130458482
21 ASS1 NM_000050.4(ASS1): c.835C> T (p.Arg279Ter) single nucleotide variant Likely pathogenic rs121908645 GRCh37 Chromosome 9, 133355833: 133355833
22 ASS1 NM_000050.4(ASS1): c.835C> T (p.Arg279Ter) single nucleotide variant Likely pathogenic rs121908645 GRCh38 Chromosome 9, 130480446: 130480446
23 ASS1 NM_000050.4(ASS1): c.535T> C (p.Trp179Arg) single nucleotide variant Pathogenic rs121908646 GRCh37 Chromosome 9, 133346260: 133346260
24 ASS1 NM_000050.4(ASS1): c.535T> C (p.Trp179Arg) single nucleotide variant Pathogenic rs121908646 GRCh38 Chromosome 9, 130470873: 130470873
25 ASS1 NM_000050.4(ASS1): c.1085G> T (p.Gly362Val) single nucleotide variant Pathogenic rs121908647 GRCh37 Chromosome 9, 133370368: 133370368
26 ASS1 NM_000050.4(ASS1): c.1085G> T (p.Gly362Val) single nucleotide variant Pathogenic rs121908647 GRCh38 Chromosome 9, 130494981: 130494981
27 ASS1 ASS1, IVS6, G-A, +5 single nucleotide variant Pathogenic
28 ASS1 NM_000050.4(ASS1): c.928A> C (p.Lys310Gln) single nucleotide variant Pathogenic rs121908648 GRCh37 Chromosome 9, 133364809: 133364809
29 ASS1 NM_000050.4(ASS1): c.928A> C (p.Lys310Gln) single nucleotide variant Pathogenic rs121908648 GRCh38 Chromosome 9, 130489422: 130489422
30 ASS1 NM_000050.4(ASS1): c.496-2A> G single nucleotide variant Pathogenic rs398123130 GRCh37 Chromosome 9, 133346219: 133346219
31 ASS1 NM_000050.4(ASS1): c.496-2A> G single nucleotide variant Pathogenic rs398123130 GRCh38 Chromosome 9, 130470832: 130470832
32 ASS1 NM_000050.4(ASS1): c.787G> A (p.Val263Met) single nucleotide variant Pathogenic/Likely pathogenic rs192838388 GRCh37 Chromosome 9, 133355785: 133355785
33 ASS1 NM_000050.4(ASS1): c.787G> A (p.Val263Met) single nucleotide variant Pathogenic/Likely pathogenic rs192838388 GRCh38 Chromosome 9, 130480398: 130480398
34 ASS1 NM_000050.4(ASS1): c.793C> T (p.Arg265Cys) single nucleotide variant Pathogenic rs148918985 GRCh37 Chromosome 9, 133355791: 133355791
35 ASS1 NM_000050.4(ASS1): c.793C> T (p.Arg265Cys) single nucleotide variant Pathogenic rs148918985 GRCh38 Chromosome 9, 130480404: 130480404
36 ASS1 NM_000050.4(ASS1): c.794G> A (p.Arg265His) single nucleotide variant Pathogenic/Likely pathogenic rs398123131 GRCh37 Chromosome 9, 133355792: 133355792
37 ASS1 NM_000050.4(ASS1): c.794G> A (p.Arg265His) single nucleotide variant Pathogenic/Likely pathogenic rs398123131 GRCh38 Chromosome 9, 130480405: 130480405
38 ASS1 NM_000050.4(ASS1): c.836G> A (p.Arg279Gln) single nucleotide variant Pathogenic/Likely pathogenic rs371265106 GRCh37 Chromosome 9, 133355834: 133355834
39 ASS1 NM_000050.4(ASS1): c.836G> A (p.Arg279Gln) single nucleotide variant Pathogenic/Likely pathogenic rs371265106 GRCh38 Chromosome 9, 130480447: 130480447
40 ASS1 NM_000050.4(ASS1): c.1194-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs727503814 GRCh37 Chromosome 9, 133376362: 133376362
41 ASS1 NM_000050.4(ASS1): c.1194-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs727503814 GRCh38 Chromosome 9, 130500975: 130500975
42 ASS1 NM_000050.4(ASS1): c.450_451delCT (p.Phe150Leufs) deletion Pathogenic/Likely pathogenic rs786204648 GRCh38 Chromosome 9, 130466754: 130466755
43 ASS1 NM_000050.4(ASS1): c.450_451delCT (p.Phe150Leufs) deletion Pathogenic/Likely pathogenic rs786204648 GRCh37 Chromosome 9, 133342141: 133342142
44 ASS1 NM_000050.4(ASS1): c.892delG (p.Glu298Argfs) deletion Pathogenic/Likely pathogenic rs770362721 GRCh37 Chromosome 9, 133364773: 133364773
45 ASS1 NM_000050.4(ASS1): c.892delG (p.Glu298Argfs) deletion Pathogenic/Likely pathogenic rs770362721 GRCh38 Chromosome 9, 130489386: 130489386
46 ASS1 NM_000050.4(ASS1): c.1030C> T (p.Arg344Ter) single nucleotide variant Likely pathogenic rs786204537 GRCh37 Chromosome 9, 133370313: 133370313
47 ASS1 NM_000050.4(ASS1): c.1030C> T (p.Arg344Ter) single nucleotide variant Likely pathogenic rs786204537 GRCh38 Chromosome 9, 130494926: 130494926
48 ASS1 NM_000050.4(ASS1): c.1138C> T (p.Gln380Ter) single nucleotide variant Likely pathogenic rs786204460 GRCh37 Chromosome 9, 133374902: 133374902
49 ASS1 NM_000050.4(ASS1): c.1138C> T (p.Gln380Ter) single nucleotide variant Likely pathogenic rs786204460 GRCh38 Chromosome 9, 130499515: 130499515
50 ASS1 NM_000050.4(ASS1): c.688+4T> C single nucleotide variant Benign/Likely benign rs78432485 GRCh37 Chromosome 9, 133352352: 133352352

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 ASL ASS1 OTC SLC25A13
2
Show member pathways
11.78 ACADS ASL ASS1 OTC
3 11.36 ASS1 OTC
4 10.91 ASL ASS1
5
Show member pathways
10.55 ASL ASS1 OTC
6
Show member pathways
10.37 ASL ASS1
7
Show member pathways
10.18 ASL ASS1 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 matrix GO:0005759 9.13 AASS ACADS OTC
2 mitochondrion GO:0005739 9.02 AASS ACADS ASS1 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 9.4 ASS1 OTC
2 response to zinc ion GO:0010043 9.37 ASS1 OTC
3 cellular amino acid biosynthetic process GO:0008652 9.33 ASL ASS1 OTC
4 midgut development GO:0007494 9.32 ASS1 OTC
5 arginine biosynthetic process via ornithine GO:0042450 9.26 ASL OTC
6 urea cycle GO:0000050 9.13 ASL ASS1 OTC
7 arginine biosynthetic process GO:0006526 8.8 ASL ASS1 OTC

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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