ARGINSA
MCID: ARG002
MIFTS: 59

Argininosuccinic Aciduria (ARGINSA)

Categories: Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Argininosuccinic Aciduria

MalaCards integrated aliases for Argininosuccinic Aciduria:

Name: Argininosuccinic Aciduria 58 12 77 25 54 26 60 76 38 13 45 15 74
Argininosuccinate Lyase Deficiency 58 12 25 54 26 30 56 6 41
Argininosuccinic Acid Lyase Deficiency 58 25 54 60 76
Asl Deficiency 58 54 26 60 76
Argininosuccinase Deficiency 58 60 76
Arginosuccinase Deficiency 12 26
Argininosuccinic Acidemia 12 26
Argininosuccinicaciduria 54 26
Asa Deficiency 54 60
Asauria 26 76
Inborn Error of Urea Synthesis, Arginino Succinic Type 54
Urea Cycle Disorder, Arginino Succinase Type 54
Deficiency of Argininosuccinate Lyase 12
Argininosuccinyl-Coa Lyase Deficiency 26
Argininosuccinatelyase Deficiency 60
Arginino Succinase Deficiency 54
Argininosuccinate Acidemia 54
Aciduria Argininosuccinic 56
Argininosuccinate Lyase 13
Citrullinemia 74
Arginsa 76
Asld 25
Asa 26

Characteristics:

Orphanet epidemiological data:

60
argininosuccinic aciduria
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Worldwide),1-9/1000000 (Finland),1-9/100000 (Europe); Age of onset: All ages,Neonatal; Age of death: any age,infantile;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in neonatal period or infancy
prevalence is estimated to be 1 in 150,000


HPO:

33
argininosuccinic aciduria:
Onset and clinical course neonatal onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Inborn errors of metabolism


Summaries for Argininosuccinic Aciduria

NIH Rare Diseases : 54 Argininosuccinic aciduria is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia. Argininosuccinic aciduria usually becomes evident in the first few days of life. An infant with argininosuccinic aciduria may be lacking in energy (lethargic) or unwilling to eat, and have poorly controlled breathing rate or body temperature. Some babies with this disorder experience seizures or unusual body movements, or go into a coma. Complications from argininosuccinic aciduria may include developmental delay, intellectual disability, progressive liver damage, skin lesions, and brittle hair. The condition is caused by mutations in the ASL gene and is inherited in an autosomal recessive pattern. Long-term management includes dietary restriction of protein and supplementation with arginine. Acute crises may be treated by discontinuing oral protein intake, supplementing oral intake with intravenous lipids and/or glucose, and use of intravenous arginine and nitrogen scavenging therapy. If ammonia levels do not normalize, hemodialysis may be necessary.

MalaCards based summary : Argininosuccinic Aciduria, also known as argininosuccinate lyase deficiency, is related to carbamoyl phosphate synthetase i deficiency, hyperammonemia due to and argininemia, and has symptoms including seizures, ataxia and vomiting. An important gene associated with Argininosuccinic Aciduria is ASL (Argininosuccinate Lyase), and among its related pathways/superpathways are Arginine biosynthesis and Alanine, aspartate and glutamate metabolism. The drugs Nitric Oxide and carbamide peroxide have been mentioned in the context of this disorder. Affiliated tissues include liver, skin and brain, and related phenotypes are aminoaciduria and oroticaciduria

Disease Ontology : 12 An amino acid metabolic disorder that involves the accumulation of argininosuccinic acid (ASA) in the blood and urine.

Genetics Home Reference : 26 Argininosuccinic aciduria is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia.

OMIM : 58 Argininosuccinic aciduria is an autosomal recessive disorder of the urea cycle. Urea cycle disorders are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis. Five disorders involving different defects in the biosynthesis of the enzymes of the urea cycle have been described: ornithine transcarbamylase deficiency (311250), carbamyl phosphate synthetase deficiency (237300), argininosuccinate synthetase deficiency, or citrullinemia (215700), argininosuccinate lyase deficiency, and arginase deficiency (207800). Erez (2013) reviewed argininosuccinic aciduria and progress in understanding it as a monogenic disorder that, like other inborn errors of metabolism, manifests as a multifactorial disorder at the phenotypic level. (207900)

UniProtKB/Swiss-Prot : 76 Argininosuccinic aciduria: An autosomal recessive disorder of the urea cycle. The disease is characterized by mental and physical retardation, liver enlargement, skin lesions, dry and brittle hair showing trichorrhexis nodosa microscopically and fluorescing red, convulsions, and episodic unconsciousness.

Wikipedia : 77 Argininosuccinic aciduria, is an inherited disorder that causes the accumulation of argininosuccinic... more...

GeneReviews: NBK51784

Related Diseases for Argininosuccinic Aciduria

Diseases related to Argininosuccinic Aciduria via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 89)
# Related Disease Score Top Affiliating Genes
1 carbamoyl phosphate synthetase i deficiency, hyperammonemia due to 31.7 ASS1 NAGS OTC
2 argininemia 31.4 ASL ASS1 NAGS OTC
3 ornithine transcarbamylase deficiency, hyperammonemia due to 30.9 ASL ASS1 NAGS OTC SLC25A13
4 orotic aciduria 29.8 ASL ASS1 OTC
5 reye syndrome 29.7 ASS1 OTC
6 citrullinemia, classic 29.4 ASS1 NAGS OTC SLC25A13
7 urea cycle disorder 29.1 ASL ASS1 NAGS OTC SLC25A13
8 transient cerebral ischemia 11.4
9 asthma, nasal polyps, and aspirin intolerance 11.3
10 mini stroke 11.1
11 branchiootic syndrome 1 11.1
12 aspirin allergy 11.1
13 spondyloarthropathy 1 10.4
14 spondylitis 10.4
15 liver disease 10.3
16 hypogonadism 10.2
17 hypogonadotropism 10.2
18 mycobacterium tuberculosis 1 10.2
19 asthma 10.1
20 aortic disease 10.1
21 intracranial hypertension 10.1
22 allergic hypersensitivity disease 10.1
23 urticaria 10.1
24 breast cancer 10.1
25 colorectal cancer 10.1
26 hepatocellular carcinoma 10.1
27 enterocolitis 10.1
28 ischemia 10.1
29 perinatal necrotizing enterocolitis 10.1
30 monilethrix 10.1
31 maple syrup urine disease 10.1
32 alopecia 10.1
33 atrioventricular block 10.1
34 epilepsy 10.1
35 hair disease 10.1
36 homocystinuria 10.1
37 metachromatic leukodystrophy 10.0
38 leukodystrophy 10.0
39 gastric ulcer 10.0
40 brucellosis 10.0
41 patent foramen ovale 10.0
42 cholecystitis 10.0
43 oropharynx cancer 10.0
44 spasmodic dysphonia 10.0
45 atrial septal aneurysm 10.0
46 lysinuric protein intolerance 10.0 ASL ASS1
47 postpartum psychosis 10.0 ASS1 OTC
48 citrullinemia, type ii, adult-onset 9.9 ASS1 SLC25A13
49 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 9.9 NAGS OTC
50 arteries, anomalies of 9.8

Graphical network of the top 20 diseases related to Argininosuccinic Aciduria:



Diseases related to Argininosuccinic Aciduria

Symptoms & Phenotypes for Argininosuccinic Aciduria

Human phenotypes related to Argininosuccinic Aciduria:

60 33 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 aminoaciduria 60 33 hallmark (90%) Very frequent (99-80%) HP:0003355
2 oroticaciduria 60 33 hallmark (90%) Very frequent (99-80%) HP:0003218
3 hypoargininemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0005961
4 hyperglutaminemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0003217
5 intellectual disability 60 33 frequent (33%) Frequent (79-30%) HP:0001249
6 ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0001251
7 eeg abnormality 60 33 frequent (33%) Frequent (79-30%) HP:0002353
8 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322
9 hyperammonemia 60 33 frequent (33%) Frequent (79-30%) HP:0001987
10 abnormal hair quantity 60 33 occasional (7.5%) Occasional (29-5%) HP:0011362
11 trichorrhexis nodosa 60 33 occasional (7.5%) Occasional (29-5%) HP:0009886
12 seizures 33 HP:0001250
13 failure to thrive 33 HP:0001508
14 global developmental delay 33 HP:0001263
15 hepatomegaly 33 HP:0002240
16 feeding difficulties in infancy 33 HP:0008872
17 vomiting 33 HP:0002013
18 irritability 33 HP:0000737
19 hepatic fibrosis 33 HP:0001395
20 coma 33 HP:0001259
21 lethargy 33 HP:0001254
22 episodic ammonia intoxication 33 HP:0001951
23 protein avoidance 33 HP:0002038
24 respiratory alkalosis 33 HP:0001950
25 brittle hair 33 HP:0002299
26 dry hair 33 HP:0011359
27 cerebral edema 33 HP:0002181
28 elevated serum aspartate aminotransferase 33 HP:0031956

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
ataxia
coma
cerebral edema
developmental delay
more
Abdomen Liver:
hepatomegaly
hepatic fibrosis
elevated serum glutamic oxaloacetic transaminase (sgot)
elevated serum glutamic pyruvic transaminase (sgpt)

Neurologic Behavioral Psychiatric Manifestations:
irritability
lethargy

Metabolic Features:
episodic ammonia intoxication
respiratory alkalosis
arginine deficiency

Growth Other:
failure to thrive

Abdomen Gastrointestinal:
vomiting
protein avoidance
poor feeding

Laboratory Abnormalities:
hyperammonemia
orotic aciduria
elevated serum glutamic oxaloacetic transaminase (sgot)
elevated serum glutamic pyruvic transaminase (sgpt)
high plasma citrulline (100-300 micromolar)
more
Skin Nails Hair Hair:
trichorrhexis nodosa
dry brittle hair

Clinical features from OMIM:

207900

UMLS symptoms related to Argininosuccinic Aciduria:


seizures, ataxia, vomiting, lethargy

MGI Mouse Phenotypes related to Argininosuccinic Aciduria:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.65 ASL ASS1 NAGS OTC SLC25A13
2 growth/size/body region MP:0005378 9.55 ASL ASS1 NAGS OTC SLC25A13
3 integument MP:0010771 9.26 ASL ASS1 NAGS OTC
4 mortality/aging MP:0010768 9.1 ADSL ASL ASS1 NAGS OTC SLC25A13

Drugs & Therapeutics for Argininosuccinic Aciduria

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

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Arginine and Buphenyl in Patients With Argininosuccinic Aciduria (ASA), a Urea Cycle Disorder Completed NCT00345605 Phase 2 Sodium Phenylbutyrate;Arginine
2 Pilot Study For Hypothermia Treatment In Hyperammonemic Encephalopathy In Neonates And Very Young Infants Completed NCT01624311 Phase 2
3 Nitric Oxide Supplementation in Argininosuccinic Aciduria Recruiting NCT02252770 Not Applicable
4 Nitric Oxide Supplementation on Neurocognitive Functions in Patients With ASLD Recruiting NCT03064048 Not Applicable
5 Neuroimaging and Neuropsychological Outcomes in Urea Cycle Disorders Recruiting NCT02935283
6 The NIH UNI Study: Urea Cycle Disorders, Nutrition and Immunity Terminated NCT01421888

Search NIH Clinical Center for Argininosuccinic Aciduria

Cochrane evidence based reviews: argininosuccinic aciduria

Genetic Tests for Argininosuccinic Aciduria

Genetic tests related to Argininosuccinic Aciduria:

# Genetic test Affiliating Genes
1 Argininosuccinate Lyase Deficiency 30 ASL

Anatomical Context for Argininosuccinic Aciduria

MalaCards organs/tissues related to Argininosuccinic Aciduria:

42
Liver, Skin, Brain, Testes, Kidney, Endothelial, Breast

Publications for Argininosuccinic Aciduria

Articles related to Argininosuccinic Aciduria:

(show top 50) (show all 126)
# Title Authors Year
1
Argininosuccinic aciduria: Recent pathophysiological insights and therapeutic prospects. ( 30723942 )
2019
2
Resting energy expenditure in Argininosuccinic Aciduria, and in other Urea Cycle disorders. ( 31056765 )
2019
3
Argininosuccinate neurotoxicity and prevention by creatine in argininosuccinate lyase deficiency: an in vitro study in rat 3D organotypic brain cell cultures. ( 30907007 )
2019
4
A retrospective biochemical, molecular, and neurocognitive review of Saudi patients with argininosuccinic aciduria. ( 29326055 )
2018
5
Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transfer. ( 30158522 )
2018
6
Adeno-associated viral gene therapy corrects a mouse model of argininosuccinic aciduria. ( 30253962 )
2018
7
Low prevalence of argininosuccinate lyase deficiency among inherited urea cycle disorders in Korea. ( 29773863 )
2018
8
Argininosuccinate Lyase Deficiency Causes an Endothelial-Dependent Form of Hypertension. ( 30075114 )
2018
9
Argininosuccinic Aciduria-A Rare Indication for Liver Transplant: Report of Two Cases. ( 26768012 )
2017
10
Expanding the phenotype in argininosuccinic aciduria: need for new therapies. ( 28251416 )
2017
11
NGS in argininosuccinic aciduria detects a mutation (D145G) which drives alternative splicing of ASL: a case report study. ( 26843370 )
2016
12
Quantitative amino acid analysis by liquid chromatography-tandem mass spectrometry: implications for the diagnosis of argininosuccinic aciduria. ( 25598409 )
2015
13
Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria. ( 25778938 )
2015
14
Atrioventricular block in siblings with argininosuccinic aciduria. ( 25889439 )
2015
15
One Year Experience of Pheburane(®) (Sodium Phenylbutyrate) Treatment in a Patient with Argininosuccinate Lyase Deficiency. ( 25665834 )
2015
16
Refeeding syndrome in a young woman with argininosuccinate lyase deficiency. ( 26937403 )
2015
17
Argininosuccinic aciduria: from a monogenic to a complex disorder. ( 23306800 )
2013
18
Understanding the role of argininosuccinate lyase transcript variants in the clinical and biochemical variability of the urea cycle disorder argininosuccinic aciduria. ( 24136197 )
2013
19
Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria. ( 21667091 )
2012
20
Yeast complementation is sufficiently sensitive to detect the residual activity of ASL alleles associated with mild forms of argininosuccinic aciduria. ( 22231378 )
2012
21
Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduria. ( 22541557 )
2012
22
Optimizing therapy for argininosuccinic aciduria. ( 22841516 )
2012
23
A randomized controlled trial to evaluate the effects of high-dose versus low-dose of arginine therapy on hepatic function tests in argininosuccinic aciduria. ( 23040521 )
2012
24
Argininosuccinate lyase deficiency. ( 22241104 )
2012
25
The ketogenic diet is well tolerated and can be effective in patients with argininosuccinate lyase deficiency and refractory epilepsy. ( 23430928 )
2012
26
Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond. ( 21312326 )
2011
27
Rhode Island metabolic newborn screening: the effect of early identification. A case report of argininosuccinic aciduria (ASA). ( 21710918 )
2011
28
Epilepsy and argininosuccinic aciduria. ( 21744316 )
2011
29
Novel mutations underlying argininosuccinic aciduria in Saudi Arabia. ( 20298553 )
2010
30
Argininosuccinic aciduria: clinical and biochemical phenotype findings in Malaysian children. ( 21329179 )
2010
31
Long-term outcome of patients with argininosuccinate lyase deficiency diagnosed by newborn screening in Austria. ( 20236848 )
2010
32
Experience with the treatment of argininosuccinic aciduria during pregnancy. ( 19585269 )
2009
33
Argininosuccinate lyase deficiency: longterm outcome of 13 patients detected by newborn screening. ( 19635676 )
2009
34
Liver transplantation for argininosuccinic aciduria: clinical, biochemical, and metabolic outcome. ( 18161830 )
2008
35
Living related liver transplant in a patient with argininosuccinic aciduria and cirrhosis: metabolic follow-up. ( 18367960 )
2008
36
Gene symbol: ASL. Disease: Argininosuccinate lyase deficiency. ( 18846631 )
2008
37
Gene symbol: ASL. Disease: Argininosuccinate lyase deficiency. ( 18846632 )
2008
38
Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene. ( 17326097 )
2007
39
Prenatal diagnosis of citrullinemia and argininosuccinic aciduria: evidence for a transmission ratio distortion in citrullinemia. ( 16475226 )
2006
40
Argininosuccinate lyase deficiency (ASL) and carbohydrate-deficient transferrin (CDT): experience with four independent CDT analysis methods--misleading results given by the %CDT TIA assay. ( 16808909 )
2006
41
Cerebral 1H MR spectroscopy showing elevation of brain guanidinoacetate in argininosuccinate lyase deficiency. ( 16343968 )
2006
42
Successful liver transplantation for argininosuccinate lyase deficiency (ASLD). ( 16601888 )
2006
43
Sustained engraftment and tissue enzyme activity after liver cell transplantation for argininosuccinate lyase deficiency. ( 16618422 )
2006
44
Identification of a common novel mutation in Saudi patients with argininosuccinic aciduria. ( 16435180 )
2005
45
A mouse model of argininosuccinic aciduria: biochemical characterization. ( 12559843 )
2003
46
Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families. ( 12408190 )
2002
47
A novel stop codon mutation (X465Y) in the argininosuccinate lyase gene in a patient with argininosuccinic aciduria. ( 12512996 )
2002
48
Progressive liver fibrosis in late-onset argininosuccinate lyase deficiency. ( 12370774 )
2002
49
Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene. ( 12384776 )
2002
50
13C NMR spectroscopy: a convenient tool for detection of argininosuccinic aciduria. ( 11489385 )
2001

Variations for Argininosuccinic Aciduria

UniProtKB/Swiss-Prot genetic disease variations for Argininosuccinic Aciduria:

76 (show top 50) (show all 59)
# Symbol AA change Variation ID SNP ID
1 ASL p.Arg95Cys VAR_000676 rs28940585
2 ASL p.Arg111Trp VAR_000677 rs138310841
3 ASL p.Arg193Gln VAR_000678 rs373697663
4 ASL p.Gln286Arg VAR_000679 rs28941472
5 ASL p.Val178Met VAR_017572 rs28941473
6 ASL p.Arg379Cys VAR_017573 rs28940287
7 ASL p.Arg385Cys VAR_017574 rs28940286
8 ASL p.Asp31Asn VAR_043106 rs754995756
9 ASL p.Arg113Gln VAR_043107 rs752783461
10 ASL p.Arg186Gln VAR_043108 rs752397242
11 ASL p.Arg236Trp VAR_043109 rs761268464
12 ASL p.Val335Leu VAR_043110
13 ASL p.Met382Arg VAR_043111
14 ASL p.Arg456Trp VAR_043112 rs759396688
15 ASL p.Val70Ala VAR_072186 rs102773942
16 ASL p.Arg94Cys VAR_072187 rs374304304
17 ASL p.Arg94His VAR_072188 rs777437569
18 ASL p.Arg95His VAR_072189 rs150244667
19 ASL p.Ala104Val VAR_072190
20 ASL p.Asp120Glu VAR_072191
21 ASL p.Leu121His VAR_072192
22 ASL p.Arg126Trp VAR_072193 rs201962738
23 ASL p.Arg146Trp VAR_072194 rs199938613
24 ASL p.Pro156Arg VAR_072195 rs769017508
25 ASL p.His160Asn VAR_072196
26 ASL p.Pro166His VAR_072197
27 ASL p.Arg168His VAR_072198 rs727503811
28 ASL p.Ser170Asn VAR_072199 rs118065088
29 ASL p.Leu180Arg VAR_072200 rs105714116
30 ASL p.Arg182Gln VAR_072201 rs751590073
31 ASL p.Arg191Trp VAR_072202 rs143508372
32 ASL p.Arg193Trp VAR_072203 rs142802950
33 ASL p.Ala205Val VAR_072204 rs796051925
34 ASL p.Arg213Gln VAR_072205 rs144958963
35 ASL p.Leu227Pro VAR_072206
36 ASL p.Ser229Arg VAR_072207
37 ASL p.Ser229Thr VAR_072208
38 ASL p.Asp231Glu VAR_072209
39 ASL p.Asp237Asn VAR_072210 rs552951774
40 ASL p.Met256Thr VAR_072211 rs149057077
41 ASL p.Leu262Pro VAR_072212
42 ASL p.Leu295Pro VAR_072213 rs136933787
43 ASL p.Gly301Arg VAR_072214 rs116141245
44 ASL p.Arg306Trp VAR_072215 rs868834862
45 ASL p.Asp324Ala VAR_072216
46 ASL p.Gln326Leu VAR_072217
47 ASL p.Leu343Phe VAR_072218
48 ASL p.Leu343Pro VAR_072219
49 ASL p.Met368Val VAR_072220
50 ASL p.Lys380Glu VAR_072221

ClinVar genetic disease variations for Argininosuccinic Aciduria:

6 (show top 50) (show all 227)
# Gene Variation Type Significance SNP ID Assembly Location
1 ASL NM_000048.3(ASL): c.283C> T (p.Arg95Cys) single nucleotide variant Pathogenic rs28940585 GRCh37 Chromosome 7, 65547430: 65547430
2 ASL NM_000048.3(ASL): c.283C> T (p.Arg95Cys) single nucleotide variant Pathogenic rs28940585 GRCh38 Chromosome 7, 66082443: 66082443
3 ASL NM_000048.3(ASL): c.857A> G (p.Gln286Arg) single nucleotide variant Pathogenic rs28941472 GRCh37 Chromosome 7, 65554101: 65554101
4 ASL NM_000048.3(ASL): c.857A> G (p.Gln286Arg) single nucleotide variant Pathogenic rs28941472 GRCh38 Chromosome 7, 66089114: 66089114
5 ASL ASL, IVS5DS, G-A, +1 single nucleotide variant Pathogenic
6 ASL NM_001024943.1(ASL): c.1153C> T (p.Arg385Cys) single nucleotide variant Pathogenic/Likely pathogenic rs28940286 GRCh37 Chromosome 7, 65557553: 65557553
7 ASL NM_001024943.1(ASL): c.1153C> T (p.Arg385Cys) single nucleotide variant Pathogenic/Likely pathogenic rs28940286 GRCh38 Chromosome 7, 66092566: 66092566
8 ASL NM_000048.3(ASL): c.532G> A (p.Val178Met) single nucleotide variant Pathogenic rs28941473 GRCh37 Chromosome 7, 65551738: 65551738
9 ASL NM_000048.3(ASL): c.532G> A (p.Val178Met) single nucleotide variant Pathogenic rs28941473 GRCh38 Chromosome 7, 66086751: 66086751
10 ASL NM_000048.3(ASL): c.1135C> T (p.Arg379Cys) single nucleotide variant Pathogenic/Likely pathogenic rs28940287 GRCh37 Chromosome 7, 65557065: 65557065
11 ASL NM_000048.3(ASL): c.1135C> T (p.Arg379Cys) single nucleotide variant Pathogenic/Likely pathogenic rs28940287 GRCh38 Chromosome 7, 66092078: 66092078
12 ASL NM_000048.3(ASL): c.1060C> T (p.Gln354Ter) single nucleotide variant Pathogenic rs367543005 GRCh37 Chromosome 7, 65554680: 65554680
13 ASL NM_000048.3(ASL): c.1060C> T (p.Gln354Ter) single nucleotide variant Pathogenic rs367543005 GRCh38 Chromosome 7, 66089693: 66089693
14 ASL NM_001024943.1(ASL): c.346C> T (p.Gln116Ter) single nucleotide variant Pathogenic rs367543006 GRCh37 Chromosome 7, 65547921: 65547921
15 ASL NM_001024943.1(ASL): c.346C> T (p.Gln116Ter) single nucleotide variant Pathogenic rs367543006 GRCh38 Chromosome 7, 66082934: 66082934
16 ASL NM_000048.3(ASL): c.1164C> T (p.His388=) single nucleotide variant Benign/Likely benign rs75300185 GRCh37 Chromosome 7, 65557564: 65557564
17 ASL NM_000048.3(ASL): c.1164C> T (p.His388=) single nucleotide variant Benign/Likely benign rs75300185 GRCh38 Chromosome 7, 66092577: 66092577
18 ASL NM_001024943.1(ASL): c.280C> T (p.Arg94Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs374304304 GRCh37 Chromosome 7, 65547427: 65547427
19 ASL NM_001024943.1(ASL): c.280C> T (p.Arg94Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs374304304 GRCh38 Chromosome 7, 66082440: 66082440
20 ASL NM_000048.3(ASL): c.35G> A (p.Arg12Gln) single nucleotide variant Pathogenic/Likely pathogenic rs145138923 GRCh37 Chromosome 7, 65546812: 65546812
21 ASL NM_000048.3(ASL): c.35G> A (p.Arg12Gln) single nucleotide variant Pathogenic/Likely pathogenic rs145138923 GRCh38 Chromosome 7, 66081825: 66081825
22 ASL NM_000048.3(ASL): c.446+1G> A single nucleotide variant Pathogenic rs142637046 GRCh37 Chromosome 7, 65548162: 65548162
23 ASL NM_000048.3(ASL): c.446+1G> A single nucleotide variant Pathogenic rs142637046 GRCh38 Chromosome 7, 66083175: 66083175
24 ASL NM_000048.3(ASL): c.544C> T (p.Arg182Ter) single nucleotide variant Pathogenic rs398123126 GRCh37 Chromosome 7, 65551750: 65551750
25 ASL NM_000048.3(ASL): c.544C> T (p.Arg182Ter) single nucleotide variant Pathogenic rs398123126 GRCh38 Chromosome 7, 66086763: 66086763
26 ASL NM_000048.3(ASL): c.576G> A (p.Lys192=) single nucleotide variant Benign/Likely benign rs115468878 GRCh37 Chromosome 7, 65551782: 65551782
27 ASL NM_000048.3(ASL): c.576G> A (p.Lys192=) single nucleotide variant Benign/Likely benign rs115468878 GRCh38 Chromosome 7, 66086795: 66086795
28 ASL NM_000048.3(ASL): c.602+13C> T single nucleotide variant Benign/Likely benign rs12536292 GRCh37 Chromosome 7, 65551821: 65551821
29 ASL NM_000048.3(ASL): c.602+13C> T single nucleotide variant Benign/Likely benign rs12536292 GRCh38 Chromosome 7, 66086834: 66086834
30 ASL NM_001024943.1(ASL): c.602+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs398123127 GRCh37 Chromosome 7, 65551809: 65551809
31 ASL NM_001024943.1(ASL): c.602+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs398123127 GRCh38 Chromosome 7, 66086822: 66086822
32 ASL NM_000048.3(ASL): c.556C> A (p.Arg186=) single nucleotide variant Benign/Likely benign rs111407265 GRCh37 Chromosome 7, 65551762: 65551762
33 ASL NM_000048.3(ASL): c.556C> A (p.Arg186=) single nucleotide variant Benign/Likely benign rs111407265 GRCh38 Chromosome 7, 66086775: 66086775
34 ASL NM_001024943.1(ASL): c.503G> A (p.Arg168His) single nucleotide variant Uncertain significance rs727503811 GRCh37 Chromosome 7, 65551628: 65551628
35 ASL NM_001024943.1(ASL): c.503G> A (p.Arg168His) single nucleotide variant Uncertain significance rs727503811 GRCh38 Chromosome 7, 66086641: 66086641
36 ASL NM_001024943.1(ASL): c.291+1G> T single nucleotide variant Likely pathogenic rs201523601 GRCh37 Chromosome 7, 65547439: 65547439
37 ASL NM_001024943.1(ASL): c.291+1G> T single nucleotide variant Likely pathogenic rs201523601 GRCh38 Chromosome 7, 66082452: 66082452
38 ASL NM_000048.3(ASL): c.392C> T (p.Thr131Met) single nucleotide variant Benign/Likely benign rs143793815 GRCh37 Chromosome 7, 65548107: 65548107
39 ASL NM_000048.3(ASL): c.392C> T (p.Thr131Met) single nucleotide variant Benign/Likely benign rs143793815 GRCh38 Chromosome 7, 66083120: 66083120
40 ASL NM_001024943.1(ASL): c.437G> A (p.Arg146Gln) single nucleotide variant Uncertain significance rs796051931 GRCh37 Chromosome 7, 65548152: 65548152
41 ASL NM_001024943.1(ASL): c.437G> A (p.Arg146Gln) single nucleotide variant Uncertain significance rs796051931 GRCh38 Chromosome 7, 66083165: 66083165
42 ASL NM_001024943.1(ASL): c.507G> C (p.Trp169Cys) single nucleotide variant Uncertain significance rs759952363 GRCh37 Chromosome 7, 65551632: 65551632
43 ASL NM_001024943.1(ASL): c.507G> C (p.Trp169Cys) single nucleotide variant Uncertain significance rs759952363 GRCh38 Chromosome 7, 66086645: 66086645
44 ASL NM_000048.3(ASL): c.545G> A (p.Arg182Gln) single nucleotide variant Pathogenic/Likely pathogenic rs751590073 GRCh37 Chromosome 7, 65551751: 65551751
45 ASL NM_000048.3(ASL): c.545G> A (p.Arg182Gln) single nucleotide variant Pathogenic/Likely pathogenic rs751590073 GRCh38 Chromosome 7, 66086764: 66086764
46 ASL NM_000048.3(ASL): c.614C> T (p.Ala205Val) single nucleotide variant Uncertain significance rs796051925 GRCh37 Chromosome 7, 65552332: 65552332
47 ASL NM_000048.3(ASL): c.614C> T (p.Ala205Val) single nucleotide variant Uncertain significance rs796051925 GRCh38 Chromosome 7, 66087345: 66087345
48 ASL NM_000048.3(ASL): c.649C> T (p.Arg217Ter) single nucleotide variant Pathogenic rs369879957 GRCh37 Chromosome 7, 65552367: 65552367
49 ASL NM_000048.3(ASL): c.649C> T (p.Arg217Ter) single nucleotide variant Pathogenic rs369879957 GRCh38 Chromosome 7, 66087380: 66087380
50 ASL NM_000048.3(ASL): c.1045_1057delGTCATCTCTACGC (p.Val349Cysfs) deletion Pathogenic rs796051933 GRCh37 Chromosome 7, 65554665: 65554677

Expression for Argininosuccinic Aciduria

Search GEO for disease gene expression data for Argininosuccinic Aciduria.

Pathways for Argininosuccinic Aciduria

Pathways related to Argininosuccinic Aciduria according to KEGG:

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

Pathways related to Argininosuccinic Aciduria according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.49 ADSL ASL ASS1 NAGS OTC SLC25A13
2
Show member pathways
11.88 ASL ASS1 NAGS OTC
3 11.36 ASS1 OTC
4 10.89 ADSL ASL ASS1
5
Show member pathways
10.67 ASL ASS1 NAGS OTC
6
Show member pathways
10.44 ASL ASS1
7
Show member pathways
10.3 ASL ASS1 NAGS OTC

GO Terms for Argininosuccinic Aciduria

Cellular components related to Argininosuccinic Aciduria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 8.92 ASS1 NAGS OTC SLC25A13

Biological processes related to Argininosuccinic Aciduria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 liver development GO:0001889 9.46 ASS1 OTC
2 response to nutrient GO:0007584 9.43 ADSL ASS1
3 response to zinc ion GO:0010043 9.37 ASS1 OTC
4 cellular amino acid biosynthetic process GO:0008652 9.33 ASL ASS1 OTC
5 midgut development GO:0007494 9.32 ASS1 OTC
6 arginine biosynthetic process via ornithine GO:0042450 9.26 ASL OTC
7 urea cycle GO:0000050 9.26 ASL ASS1 NAGS OTC
8 cellular amino acid metabolic process GO:0006520 9.1 OTC
9 arginine biosynthetic process GO:0006526 8.92 ASL ASS1 NAGS OTC

Molecular functions related to Argininosuccinic Aciduria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lyase activity GO:0016829 8.96 ADSL ASL
2 amino acid binding GO:0016597 8.62 ASS1 OTC

Sources for Argininosuccinic Aciduria

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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