ARGINSA
MCID: ARG002
MIFTS: 61

Argininosuccinic Aciduria (ARGINSA)

Categories: Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Argininosuccinic Aciduria

MalaCards integrated aliases for Argininosuccinic Aciduria:

Name: Argininosuccinic Aciduria 57 12 76 53 25 59 75 37 13 44 15 73
Argininosuccinate Lyase Deficiency 57 12 24 53 25 29 55 6 40
Asl Deficiency 57 24 53 25 59 75
Argininosuccinic Acid Lyase Deficiency 57 24 53 59 75
Argininosuccinase Deficiency 57 59 75
Arginosuccinase Deficiency 12 25
Argininosuccinic Acidemia 12 25
Argininosuccinicaciduria 53 25
Asa Deficiency 53 59
Asauria 25 75
Inborn Error of Urea Synthesis, Arginino Succinic Type 53
Urea Cycle Disorder, Arginino Succinase Type 53
Deficiency of Argininosuccinate Lyase 12
Argininosuccinyl-Coa Lyase Deficiency 25
Argininosuccinatelyase Deficiency 59
Arginino Succinase Deficiency 53
Argininosuccinate Acidemia 53
Aciduria Argininosuccinic 55
Argininosuccinate Lyase 13
Citrullinemia 73
Arginsa 75
Asa 25

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
autosomal recessive

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


HPO:

32
argininosuccinic aciduria:
Onset and clinical course neonatal onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Inborn errors of metabolism


Summaries for Argininosuccinic Aciduria

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

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

Genetics Home Reference : 25 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 : 57 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 : 75 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 : 76 Argininosuccinic aciduria, also called argininosuccinic acidemia, is an inherited disorder that causes... 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 31.8 ASS1 NAGS OTC
2 argininemia 31.6 ASL ASS1 NAGS OTC
3 ornithine transcarbamylase deficiency, hyperammonemia due to 31.3 ASL ASS1 NAGS OTC SLC25A13
4 orotic aciduria 29.9 ASL ASS1 OTC
5 reye syndrome 29.7 ASS1 OTC
6 urea cycle disorder 29.5 ASL ASS1 NAGS OTC SLC25A13
7 citrullinemia, classic 29.5 ASS1 NAGS OTC SLC25A13
8 asthma, nasal polyps, and aspirin intolerance 11.2
9 transient cerebral ischemia 11.1
10 mini stroke 11.1
11 branchiootic syndrome 1 11.1
12 aspirin allergy 11.1
13 liver disease 10.3
14 spondyloarthropathy 1 10.1
15 asthma 10.1
16 aortic disease 10.1
17 spondylitis 10.1
18 breast cancer 10.1
19 colorectal cancer 10.1
20 hepatocellular carcinoma 10.1
21 enterocolitis 10.1
22 autoinflammation with infantile enterocolitis 10.1
23 ischemia 10.1
24 perinatal necrotizing enterocolitis 10.1
25 monilethrix 10.1
26 maple syrup urine disease 10.1
27 alopecia 10.1
28 atrioventricular block 10.1
29 epilepsy 10.1
30 hair disease 10.1
31 homocystinuria 10.1
32 encephalopathy 10.0
33 postpartum psychosis 10.0 ASS1 OTC
34 lysinuric protein intolerance 10.0 ASL ASS1
35 citrullinemia, type ii, adult-onset 10.0 ASS1 SLC25A13
36 metachromatic leukodystrophy 9.9
37 arthritis 9.9
38 leukodystrophy 9.9
39 brucellosis 9.9
40 spondyloarthropathy 9.9
41 patent foramen ovale 9.9
42 urticaria 9.9
43 cholecystitis 9.9
44 oropharynx cancer 9.9
45 spasmodic dysphonia 9.9
46 atrial septal aneurysm 9.9
47 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 9.9 NAGS OTC
48 brain edema 9.8 OTC SLC25A13
49 arteries, anomalies of 9.8
50 leukemia, chronic lymphocytic 2 9.8

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



Diseases related to Argininosuccinic Aciduria

Symptoms & Phenotypes for Argininosuccinic Aciduria

Symptoms via clinical synopsis from OMIM:

57
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
poor feeding
protein avoidance

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

Human phenotypes related to Argininosuccinic Aciduria:

59 32 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
2 ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0001251
3 eeg abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0002353
4 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
5 aminoaciduria 59 32 hallmark (90%) Very frequent (99-80%) HP:0003355
6 abnormal hair quantity 59 32 occasional (7.5%) Occasional (29-5%) HP:0011362
7 hyperammonemia 59 32 frequent (33%) Frequent (79-30%) HP:0001987
8 oroticaciduria 59 32 hallmark (90%) Very frequent (99-80%) HP:0003218
9 hypoargininemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0005961
10 hyperglutaminemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003217
11 trichorrhexis nodosa 59 32 occasional (7.5%) Occasional (29-5%) HP:0009886
12 seizures 32 HP:0001250
13 failure to thrive 32 HP:0001508
14 global developmental delay 32 HP:0001263
15 hepatomegaly 32 HP:0002240
16 feeding difficulties in infancy 32 HP:0008872
17 vomiting 32 HP:0002013
18 irritability 32 HP:0000737
19 hepatic fibrosis 32 HP:0001395
20 coma 32 HP:0001259
21 lethargy 32 HP:0001254
22 cerebral edema 32 HP:0002181
23 episodic ammonia intoxication 32 HP:0001951
24 brittle hair 32 HP:0002299
25 dry hair 32 HP:0011359
26 protein avoidance 32 HP:0002038
27 respiratory alkalosis 32 HP:0001950

UMLS symptoms related to Argininosuccinic Aciduria:


seizures, ataxia, vomiting, lethargy

MGI Mouse Phenotypes related to Argininosuccinic Aciduria:

46
# 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 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nitric Oxide Approved Phase 2,Not Applicable 10102-43-9 145068
2
Ornithine Approved, Nutraceutical Phase 2 3184-13-2, 70-26-8 6262
3 Liver Extracts Phase 2
4 arginine Phase 2
5 4-phenylbutyric acid Phase 2
6 Endothelium-Dependent Relaxing Factors Not Applicable
7 Vasodilator Agents Not Applicable
8 Anti-Asthmatic Agents Not Applicable
9 Free Radical Scavengers Not Applicable
10 Antioxidants Not Applicable
11 Respiratory System Agents Not Applicable
12 Neurotransmitter Agents Not Applicable
13 Bronchodilator Agents Not Applicable
14 Peripheral Nervous System Agents Not Applicable
15 Protective Agents Not Applicable
16 Autonomic Agents Not Applicable
17 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 29 ASL

Anatomical Context for Argininosuccinic Aciduria

MalaCards organs/tissues related to Argininosuccinic Aciduria:

41
Liver, Skin, Testes, Brain, Kidney, Breast, B Cells

Publications for Argininosuccinic Aciduria

Articles related to Argininosuccinic Aciduria:

(show top 50) (show all 105)
# Title Authors Year
1
A retrospective biochemical, molecular, and neurocognitive review of Saudi patients with argininosuccinic aciduria. ( 29326055 )
2018
2
Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transfer. ( 30158522 )
2018
3
Adeno-associated viral gene therapy corrects a mouse model of argininosuccinic aciduria. ( 30253962 )
2018
4
Low prevalence of argininosuccinate lyase deficiency among inherited urea cycle disorders in Korea. ( 29773863 )
2018
5
Argininosuccinate Lyase Deficiency Causes an Endothelial-Dependent Form of Hypertension. ( 30075114 )
2018
6
Expanding the phenotype in argininosuccinic aciduria: need for new therapies. ( 28251416 )
2017
7
NGS in argininosuccinic aciduria detects a mutation (D145G) which drives alternative splicing of ASL: a case report study. ( 26843370 )
2016
8
Argininosuccinic Aciduria-A Rare Indication for Liver Transplant: Report of Two Cases. ( 26768012 )
2016
9
Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria. ( 25778938 )
2015
10
Quantitative amino acid analysis by liquid chromatography-tandem mass spectrometry: implications for the diagnosis of argininosuccinic aciduria. ( 25598409 )
2015
11
Atrioventricular block in siblings with argininosuccinic aciduria. ( 25889439 )
2015
12
One Year Experience of Pheburane(®) (Sodium Phenylbutyrate) Treatment in a Patient with Argininosuccinate Lyase Deficiency. ( 25665834 )
2015
13
Refeeding syndrome in a young woman with argininosuccinate lyase deficiency. ( 26937403 )
2015
14
Argininosuccinic aciduria: from a monogenic to a complex disorder. ( 23306800 )
2013
15
Understanding the role of argininosuccinate lyase transcript variants in the clinical and biochemical variability of the urea cycle disorder argininosuccinic aciduria. ( 24136197 )
2013
16
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
17
Optimizing therapy for argininosuccinic aciduria. ( 22841516 )
2012
18
Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria. ( 21667091 )
2012
19
Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduria. ( 22541557 )
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
Argininosuccinate lyase deficiency. ( 22241104 )
2012
22
The ketogenic diet is well tolerated and can be effective in patients with argininosuccinate lyase deficiency and refractory epilepsy. ( 23430928 )
2012
23
Rhode Island metabolic newborn screening: the effect of early identification. A case report of argininosuccinic aciduria (ASA). ( 21710918 )
2011
24
Epilepsy and argininosuccinic aciduria. ( 21744316 )
2011
25
Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond. ( 21312326 )
2011
26
Novel mutations underlying argininosuccinic aciduria in Saudi Arabia. ( 20298553 )
2010
27
Argininosuccinic aciduria: clinical and biochemical phenotype findings in Malaysian children. ( 21329179 )
2010
28
Experience with the treatment of argininosuccinic aciduria during pregnancy. ( 19585269 )
2009
29
Living related liver transplant in a patient with argininosuccinic aciduria and cirrhosis: metabolic follow-up. ( 18367960 )
2008
30
Liver transplantation for argininosuccinic aciduria: clinical, biochemical, and metabolic outcome. ( 18161830 )
2008
31
Prenatal diagnosis of citrullinemia and argininosuccinic aciduria: evidence for a transmission ratio distortion in citrullinemia. ( 16475226 )
2006
32
Identification of a common novel mutation in Saudi patients with argininosuccinic aciduria. ( 16435180 )
2005
33
A mouse model of argininosuccinic aciduria: biochemical characterization. ( 12559843 )
2003
34
A novel stop codon mutation (X465Y) in the argininosuccinate lyase gene in a patient with argininosuccinic aciduria. ( 12512996 )
2002
35
Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families. ( 12408190 )
2002
36
13C NMR spectroscopy: a convenient tool for detection of argininosuccinic aciduria. ( 11489385 )
2001
37
Fatal hyperammonaemia in argininosuccinic aciduria following enflurane anaesthesia. ( 9504797 )
1998
38
Use of amniotic fluid amino acids in prenatal testing for argininosuccinic aciduria and citrullinaemia. ( 8843999 )
1996
39
Pregnancy and argininosuccinic aciduria. ( 8892017 )
1996
40
Argininosuccinic aciduria: clinical and biochemical findings in three children with the late onset form, with special emphasis on cerebrospinal fluid findings of amino acids and pyrimidines. ( 7682674 )
1993
41
Late onset argininosuccinic aciduria in a paranoid retardate. ( 1790264 )
1991
42
Prenatal diagnosis of argininosuccinic aciduria by assay of argininosuccinate in amniotic fluid at the 12th week of gestation. ( 2333894 )
1990
43
Transabdominal chorionic villus sampling in a multiple pregnancy at risk of argininosuccinic aciduria: a case report. ( 2389802 )
1990
44
Argininosuccinic aciduria--an underdiagnosed cause of neonatal death? ( 2711176 )
1989
45
Diagnosis of argininosuccinic aciduria after valproic acid-induced hyperammonemia. ( 3106853 )
1987
46
Molecular basis of enzyme abnormalities in urea cycle disorders. With special reference to citrullinemia and argininosuccinic aciduria. ( 3440446 )
1987
47
Argininosuccinic aciduria: long-term treatment with arginine. ( 3116334 )
1987
48
Severe liver fibrosis in argininosuccinic aciduria. ( 3753845 )
1986
49
High-performance liquid chromatographic assay of argininosuccinate: its application in argininosuccinic aciduria and in normal man. ( 3088323 )
1986
50
Absence of argininosuccinate lyase protein in the liver of two patients with argininosuccinic aciduria. ( 3757266 )
1986

Variations for Argininosuccinic Aciduria

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

75 (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
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
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
43 ASL p.Gly301Arg VAR_072214
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 229)
# 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:

37
# 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
13.48 ADSL ASL ASS1 NAGS OTC SLC25A13
2
Show member pathways
11.88 ASL ASS1 NAGS OTC
3 11.36 ASS1 OTC
4 10.88 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 cellular amino acid metabolic process GO:0006520 9.4 ASL OTC
4 response to zinc ion GO:0010043 9.37 ASS1 OTC
5 cellular amino acid biosynthetic process GO:0008652 9.33 ASL ASS1 OTC
6 midgut development GO:0007494 9.32 ASS1 OTC
7 arginine biosynthetic process via ornithine GO:0042450 9.26 ASL OTC
8 urea cycle GO:0000050 9.26 ASL ASS1 NAGS 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 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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