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 73 25 20 43 58 72 36 13 44 15 70
Argininosuccinate Lyase Deficiency 57 12 25 20 43 29 54 6
Argininosuccinic Acid Lyase Deficiency 57 25 20 58 72
Asl Deficiency 57 20 43 58 72
Argininosuccinase Deficiency 57 58 72
Arginosuccinase Deficiency 12 43
Argininosuccinic Acidemia 12 43
Argininosuccinicaciduria 20 43
Asa Deficiency 20 58
Asauria 43 72
Inborn Error of Urea Synthesis, Arginino Succinic Type 20
Urea Cycle Disorder, Arginino Succinase Type 20
Deficiency of Argininosuccinate Lyase 12
Argininosuccinyl-Coa Lyase Deficiency 43
Argininosuccinatelyase Deficiency 58
Arginino Succinase Deficiency 20
Argininosuccinate Acidemia 20
Aciduria, Argininosuccinic 39
Aciduria Argininosuccinic 54
Citrullinemia 70
Arginsa 72
Asld 25
Asa 43

Characteristics:

Orphanet epidemiological data:

58
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 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
argininosuccinic aciduria:
Inheritance autosomal recessive inheritance
Onset and clinical course neonatal onset


Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:14755
OMIM® 57 207900
KEGG 36 H01028
NCIt 50 C84569
SNOMED-CT 67 41013004
MESH via Orphanet 45 D056807
ICD10 via Orphanet 33 E72.2
UMLS via Orphanet 71 C0268547
Orphanet 58 ORPHA23
MedGen 41 C0268547
UMLS 70 C0175683 C0268547

Summaries for Argininosuccinic Aciduria

GARD : 20 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 carbonic anhydrase va deficiency, hyperammonemia due to, 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 carbamide peroxide and Nitric Oxide have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and kidney, 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.

MedlinePlus Genetics : 43 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 a 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 and intellectual disability. Progressive liver damage, high blood pressure (hypertension), skin lesions, and brittle hair may also be seen.Occasionally, individuals may inherit a mild form of the disorder. These individuals can have an accumulation of ammonia in the bloodstream only during periods of illness or other stress, or mild intellectual disability or learning disabilities with no evidence of elevated ammonia levels.

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) (Updated 20-May-2021)

KEGG : 36 Arginosuccinicaciduria (ARGINSA) is an autosomal recessive disorder of the urea cycle that is caused by defects in argininosuccinate lyase. ARGINSA 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.

UniProtKB/Swiss-Prot : 72 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 : 73 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 261)
# Related Disease Score Top Affiliating Genes
1 carbamoyl phosphate synthetase i deficiency, hyperammonemia due to 31.5 SLC25A15 OTC NAGS CPS1 ASS1
2 carbonic anhydrase va deficiency, hyperammonemia due to 30.3 SLC25A15 SLC25A13 OTC NAGS CPS1 ASS1
3 phenylketonuria 30.2 OTC ASS1 ADSL
4 reye syndrome 30.1 OTC ASS1
5 gyrate atrophy of choroid and retina 29.8 SLC25A15 GAMT
6 orotic aciduria 29.1 SLC7A7 OTC NAGS CPS1 ASS1 ASL
7 maple syrup urine disease 29.0 OTC NAGS HADH CPS1 ASS1 ASL
8 ornithine transcarbamylase deficiency, hyperammonemia due to 28.9 SLC25A15 SLC25A13 OTC NAGS CPS1 ASS1
9 citrullinemia, classic 28.4 SLC7A7 SLC25A15 SLC25A13 OTC NAGS CPS1
10 urea cycle disorder 27.8 SLC7A7 SLC25A15 SLC25A13 OTC NAGS GAMT
11 argininemia 27.4 SLC7A7 SLC25A15 SLC25A13 OTC NAGS GAMT
12 asthma, nasal polyps, and aspirin intolerance 11.2
13 proctitis 11.1
14 patent foramen ovale 10.9
15 transient cerebral ischemia 10.9
16 branchiootic syndrome 1 10.9
17 aspirin allergy 10.9
18 atrial heart septal defect 10.9
19 mini stroke 10.9
20 ulcerative colitis 10.6
21 colitis 10.6
22 inflammatory bowel disease 10.4
23 autosomal recessive disease 10.3
24 arteries, anomalies of 10.3
25 allergic disease 10.3
26 ocular motor apraxia 10.3
27 postpartum psychosis 10.3 OTC ASS1
28 crohn's disease 10.3
29 learning disability 10.2
30 urticaria 10.2
31 fumarase deficiency 10.2 ASL ADSL
32 ornithinemia 10.2
33 seizure disorder 10.2
34 tyrosinemia, type ii 10.2 NAGS CPS1
35 angioedema 10.1
36 histidine metabolism disease 10.1 DMGDH ADSL
37 isovaleric acidemia 10.1 NAGS CPS1
38 tyrosinemia, type i 10.1 OTC NAGS ASL
39 atherosclerosis susceptibility 10.1
40 ige responsiveness, atopic 10.1
41 stroke, ischemic 10.1
42 peripheral vascular disease 10.1
43 cardiac arrest 10.1
44 vascular disease 10.1
45 hypogonadism 10.1
46 histidinemia 10.1 DMGDH ADSL
47 attention deficit-hyperactivity disorder 10.1
48 choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction 10.1
49 fatty liver disease, nonalcoholic 1 10.1
50 alacrima, achalasia, and mental retardation syndrome 10.1

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:

58 31 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 aminoaciduria 58 31 hallmark (90%) Very frequent (99-80%) HP:0003355
2 oroticaciduria 58 31 hallmark (90%) Very frequent (99-80%) HP:0003218
3 hyperglutaminemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003217
4 hypoargininemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0005961
5 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
6 eeg abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0002353
7 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
8 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
9 hyperammonemia 58 31 frequent (33%) Frequent (79-30%) HP:0001987
10 abnormal hair quantity 58 31 occasional (7.5%) Occasional (29-5%) HP:0011362
11 trichorrhexis nodosa 58 31 occasional (7.5%) Occasional (29-5%) HP:0009886
12 failure to thrive 31 HP:0001508
13 global developmental delay 31 HP:0001263
14 hepatomegaly 31 HP:0002240
15 feeding difficulties in infancy 31 HP:0008872
16 vomiting 31 HP:0002013
17 hepatic fibrosis 31 HP:0001395
18 irritability 31 HP:0000737
19 lethargy 31 HP:0001254
20 episodic ammonia intoxication 31 HP:0001951
21 coma 31 HP:0001259
22 brittle hair 31 HP:0002299
23 dry hair 31 HP:0011359
24 cerebral edema 31 HP:0002181
25 protein avoidance 31 HP:0002038
26 respiratory alkalosis 31 HP:0001950
27 elevated serum aspartate aminotransferase 31 HP:0031956
28 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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

Skin Nails Hair Hair:
trichorrhexis nodosa
dry brittle hair

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
Metabolic Features:
episodic ammonia intoxication
respiratory alkalosis
arginine deficiency

Clinical features from OMIM®:

207900 (Updated 20-May-2021)

UMLS symptoms related to Argininosuccinic Aciduria:


seizures; ataxia; vomiting; lethargy

GenomeRNAi Phenotypes related to Argininosuccinic Aciduria according to GeneCards Suite gene sharing:

26 (show all 16)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.55 SLC25A15
2 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.55 GAMT
3 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.55 GAMT
4 Increased shRNA abundance (Z-score > 2) GR00366-A-167 9.55 GAMT
5 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.55 SLC25A15
6 Increased shRNA abundance (Z-score > 2) GR00366-A-193 9.55 GAMT
7 Increased shRNA abundance (Z-score > 2) GR00366-A-200 9.55 GAMT
8 Increased shRNA abundance (Z-score > 2) GR00366-A-211 9.55 GAMT SLC25A15
9 Increased shRNA abundance (Z-score > 2) GR00366-A-213 9.55 GAMT
10 Increased shRNA abundance (Z-score > 2) GR00366-A-27 9.55 GAMT
11 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.55 SLC25A15
12 Increased shRNA abundance (Z-score > 2) GR00366-A-62 9.55 SLC25A15
13 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.55 GAMT
14 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.55 SLC25A15
15 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.55 GAMT
16 Increased shRNA abundance (Z-score > 2) GR00366-A-88 9.55 GAMT

MGI Mouse Phenotypes related to Argininosuccinic Aciduria:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.96 ASL ASS1 CPS1 DMGDH GAMT NAGS
2 homeostasis/metabolism MP:0005376 9.93 ARG1 ARG2 ASL ASS1 CPS1 DMGDH
3 mortality/aging MP:0010768 9.7 ADSL ARG1 ASL ASS1 CPS1 GAMT
4 renal/urinary system MP:0005367 9.17 ASL GAMT HADH OTC SLC25A13 SLC25A15

Drugs & Therapeutics for Argininosuccinic Aciduria

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

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
carbamide peroxide Approved Phase 2 124-43-6
2
Nitric Oxide Approved Phase 2 10102-43-9 145068
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 Investigational, Nutraceutical Phase 2 74-79-3 6322
7 Neurotransmitter Agents
8 Respiratory System Agents
9 Anti-Asthmatic Agents
10 Vasodilator Agents
11 Antioxidants
12 Protective Agents
13 Endothelium-Dependent Relaxing Factors
14 Bronchodilator Agents
15 glutamine
16 Vaccines

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 A Randomized, Double-Blind, Crossover Study of Sodium Phenylbutyrate and Low-Dose Arginine Compared to High-Dose Arginine Alone on Liver Function, Ureagenesis and Subsequent Nitric Oxide Production in Patients With Argininosuccinic Aciduria Completed NCT00345605 Phase 2 Sodium Phenylbutyrate;Arginine
2 Open, Prospective, Uncontrolled, Multicentre Study to Evaluate The Safety and Efficacy of Multiple Applications of Liver Cell Suspension Into The Portal Vein in Children With Urea Cycle Disorders (UCDs) Completed NCT00718627 Phase 2
3 Evaluation of Citrullinemia as a Marker of Bowel Damage After Allogeneic Bone Marrow Transplantation in Children Unknown status NCT00751452
4 Study of Non Major Microcirculation During Extracorporeal Circulation : Relation Between Endothelial Dysfunction and Digestive Completed NCT01389947
5 RDCRN 5110, Nitric Oxide Flux and Ureagenesis in Argininosuccinate Synthetase Deficiency (ASSD)(Citrullinemia I)(Version 24Feb12, NIH Approved 4/5/2012) Completed NCT01610089
6 Nitric Oxide Supplementation as a Therapeutic Intervention in Argininosuccinic Aciduria Completed NCT02252770
7 Effect of Nitric Oxide (NO) Supplementation on Neurocognitive Measures in Argininosuccinate Lyase Deficiency (ASLD) Recruiting NCT03064048
8 Protocol for a Randomized Pilot Study (FIRST STEPS): Implementation of the Incredible Years-ASLD® Program in Spanish Preschoolers With Autism and Premature Children With Communication or Socialization Difficulties Active, not recruiting NCT04358484
9 Noninvasive Biomarkers of Hepatic Fibrosis in Urea Cycle Disorders Not yet recruiting NCT04612764
10 Citrullinemia for the Prediction of Enteral Nutrition Tolerance Among Critically Ill Patients Not yet recruiting NCT03967795 N2-L-Alanyl-L-Glutamine (Substance)
11 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:

40
Liver, Heart, Kidney, Endothelial, Bone Marrow, Brain, Lung

Publications for Argininosuccinic Aciduria

Articles related to Argininosuccinic Aciduria:

(show top 50) (show all 271)
# Title Authors PMID Year
1
Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene. 57 6 25 54 61
17326097 2007
2
Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families. 54 25 6 57 61
12408190 2002
3
Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduria. 25 61 6 57
22541557 2012
4
Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene. 61 57 54 6
12384776 2002
5
Long-term outcome of patients with argininosuccinate lyase deficiency diagnosed by newborn screening in Austria. 61 54 25 6
20236848 2010
6
Functional complementation in yeast allows molecular characterization of missense argininosuccinate lyase mutations. 6 25 61 54
19703900 2009
7
Identification of a common novel mutation in Saudi patients with argininosuccinic aciduria. 61 54 6 25
16435180 2005
8
Dietary management reverses grooving and abnormal polarization of hair shafts in argininosuccinase deficiency. 25 57 54 61
1897577 1991
9
Argininosuccinate Lyase Deficiency Causes an Endothelial-Dependent Form of Hypertension. 57 25 61
30075114 2018
10
Expanding the phenotype in argininosuccinic aciduria: need for new therapies. 61 6 25
28251416 2017
11
Molecular analysis of human argininosuccinate lyase: mutant characterization and alternative splicing of the coding region. 6 57
2263616 1990
12
A familial study of a human enzyme defect, argininosuccinic aciduria. 61 57 25
5836520 1964
13
Two novel mutations (E86A, R113W) in argininosuccinate lyase deficiency and evidence for highly variable splicing of the human argininosuccinate lyase gene. 54 61 6
10896281 2000
14
Long-term follow-up of 12 patients with the late-onset variant of argininosuccinic acid lyase deficiency: no impairment of intellectual and psychomotor development during therapy. 57 25
1594374 1992
15
Analysis of naturally occurring and site-directed mutations in the argininosuccinate lyase gene. 61 54 6
1705937 1991
16
From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria. 61 6
31943503 2020
17
[Clinical and genetic analysis of two children suspected for argininosuccinic aciduria]. 61 6
31030429 2019
18
Functional Characterization of Argininosuccinate Lyase Gene Variants by Mini-Gene Splicing Assay. 61 6
31156699 2019
19
Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing. 61 6
30285816 2018
20
Low prevalence of argininosuccinate lyase deficiency among inherited urea cycle disorders in Korea. 61 6
29773863 2018
21
A retrospective biochemical, molecular, and neurocognitive review of Saudi patients with argininosuccinic aciduria. 61 6
29326055 2018
22
NGS in argininosuccinic aciduria detects a mutation (D145G) which drives alternative splicing of ASL: a case report study. 61 6
26843370 2016
23
Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria. 61 6
25778938 2015
24
Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases. 6 61
25433810 2014
25
Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene. 61 6
24166829 2014
26
Understanding the role of argininosuccinate lyase transcript variants in the clinical and biochemical variability of the urea cycle disorder argininosuccinic aciduria. 61 6
24136197 2013
27
Argininosuccinic aciduria: from a monogenic to a complex disorder. 61 57
23306800 2013
28
Yeast complementation is sufficiently sensitive to detect the residual activity of ASL alleles associated with mild forms of argininosuccinic aciduria. 61 6
22231378 2012
29
Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria. 6 61
21667091 2012
30
The ketogenic diet is well tolerated and can be effective in patients with argininosuccinate lyase deficiency and refractory epilepsy. 61 6
23430928 2012
31
Epilepsy and argininosuccinic aciduria. 6 61
21744316 2011
32
Novel mutations underlying argininosuccinic aciduria in Saudi Arabia. 6 61
20298553 2010
33
Argininosuccinate lyase deficiency: longterm outcome of 13 patients detected by newborn screening. 61 54 25
19635676 2009
34
Hereditary urea cycle diseases in Finland. 54 6
18616627 2008
35
Cross-sectional multicenter study of patients with urea cycle disorders in the United States. 61 25 54
18562231 2008
36
Progressive liver fibrosis in late-onset argininosuccinate lyase deficiency. 25 54 61
12370774 2002
37
Three-dimensional structure of the argininosuccinate lyase frequently complementing allele Q286R. 6 61
11747432 2001
38
Mechanisms for intragenic complementation at the human argininosuccinate lyase locus. 6 61
11747433 2001
39
Intragenic complementation and the structure and function of argininosuccinate lyase. 61 25 54
11092456 2000
40
Fatal hyperammonaemia in argininosuccinic aciduria following enflurane anaesthesia. 57 61
9504797 1998
41
Human argininosuccinate lyase: a structural basis for intragenic complementation. 54 6
9256435 1997
42
Prenatal diagnosis of the urea cycle diseases: a survey of the European cases. 25 61 54
7717428 1995
43
Transabdominal chorionic villus sampling in a multiple pregnancy at risk of argininosuccinic aciduria: a case report. 61 57
2389802 1990
44
Argininosuccinate lyase deficiency: evidence for heterogeneous structural gene mutations by immunoblotting. 61 57
3752080 1986
45
Interallelic complementation in an inborn error of metabolism: genetic heterogeneity in argininosuccinate lyase deficiency. 57 61
6589607 1984
46
Studies on complementation in argininosuccinate synthetase and argininosuccinate lyase deficiencies in human fibroblasts. 57 61
7250970 1981
47
Neonatal argininosuccinic aciduria-survival after early diagnosis and dietary management. 57 61
7359236 1980
48
Argininosuccinic aciduria: prenatal studies in a family at risk. 57 61
484552 1979
49
Argininosuccinic aciduria: metabolic studies and effects of treatment with keto-analogues of essential amino acids. 57 61
668730 1978
50
Enzymologic and metabolic studies in two families affected by argininosuccinic aciduria. 61 57
652408 1978

Variations for Argininosuccinic Aciduria

ClinVar genetic disease variations for Argininosuccinic Aciduria:

6 (show top 50) (show all 218)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ASL NM_000048.4(ASL):c.283C>T (p.Arg95Cys) SNV Pathogenic 2398 rs28940585 GRCh37: 7:65547430-65547430
GRCh38: 7:66082443-66082443
2 ASL ASL, IVS5DS, G-A, +1 SNV Pathogenic 2400 GRCh37:
GRCh38:
3 ASL NM_000048.4(ASL):c.346C>T (p.Gln116Ter) SNV Pathogenic 21254 rs367543006 GRCh37: 7:65547921-65547921
GRCh38: 7:66082934-66082934
4 ASL NM_000048.4(ASL):c.461T>C (p.Leu154Pro) SNV Pathogenic 224973 rs869312988 GRCh37: 7:65551586-65551586
GRCh38: 7:66086599-66086599
5 ASL NM_000048.4(ASL):c.762C>A (p.Ser254Arg) SNV Pathogenic 224976 rs869312991 GRCh37: 7:65553837-65553837
GRCh38: 7:66088850-66088850
6 ASL NM_000048.4(ASL):c.1360C>T (p.Gln454Ter) SNV Pathogenic 224979 rs869312994 GRCh37: 7:65557864-65557864
GRCh38: 7:66092877-66092877
7 ASL NM_000048.4(ASL):c.257A>C (p.Glu86Ala) SNV Pathogenic 224971 rs869312986 GRCh37: 7:65547404-65547404
GRCh38: 7:66082417-66082417
8 ASL NM_000048.4(ASL):c.575_580dup (p.Lys192_Arg193dup) Duplication Pathogenic 224974 rs869312989 GRCh37: 7:65551775-65551776
GRCh38: 7:66086788-66086789
9 ASL NM_000048.4(ASL):c.889C>T (p.Arg297Trp) SNV Pathogenic 224977 rs869312992 GRCh37: 7:65554133-65554133
GRCh38: 7:66089146-66089146
10 ASL NM_000048.4(ASL):c.94_100del (p.Arg32fs) Deletion Pathogenic 459923 rs1554326263 GRCh37: 7:65546870-65546876
GRCh38: 7:66081883-66081889
11 ASL NC_000007.14:g.(?_66081783)_(66083194_?)del Deletion Pathogenic 830913 GRCh37: 7:65546770-65548181
GRCh38:
12 overlap with 2 genes NC_000007.14:g.(?_65960877)_(66092932_?)del Deletion Pathogenic 833035 GRCh37: 7:65425864-65557919
GRCh38:
13 ASL NC_000007.14:g.(?_66076072)_(66092922_?)del Deletion Pathogenic 833451 GRCh37: 7:65541059-65557909
GRCh38:
14 ASL NM_000048.4(ASL):c.376C>T (p.Arg126Trp) SNV Pathogenic 643476 rs201962738 GRCh37: 7:65548091-65548091
GRCh38: 7:66083104-66083104
15 ASL NM_000048.4(ASL):c.524+2T>G SNV Pathogenic 224981 rs869312976 GRCh37: 7:65551651-65551651
GRCh38: 7:66086664-66086664
16 ASL NM_000048.4(ASL):c.551_552del (p.Asp183_Ser184insTer) Microsatellite Pathogenic 954795 GRCh37: 7:65551755-65551756
GRCh38: 7:66086768-66086769
17 ASL NM_000048.4(ASL):c.159del (p.Leu54fs) Deletion Pathogenic 970166 GRCh37: 7:65546934-65546934
GRCh38: 7:66081947-66081947
18 ASL NM_000048.4(ASL):c.1045_1062+7del Deletion Pathogenic 529426 rs1329070853 GRCh37: 7:65554664-65554688
GRCh38: 7:66089677-66089701
19 ASL NM_000048.4(ASL):c.765dup (p.Met256fs) Duplication Pathogenic 573845 rs1562742141 GRCh37: 7:65553838-65553839
GRCh38: 7:66088851-66088852
20 ASL NM_000048.4(ASL):c.451_452dup (p.Asp152fs) Duplication Pathogenic 835209 GRCh37: 7:65551575-65551576
GRCh38: 7:66086588-66086589
21 ASL NM_000048.4(ASL):c.1172_1173delinsAA (p.Ser391Ter) Indel Pathogenic 956283 GRCh37: 7:65557572-65557573
GRCh38: 7:66092585-66092586
22 ASL NM_000048.4(ASL):c.706C>T (p.Arg236Trp) SNV Pathogenic 941054 GRCh37: 7:65552766-65552766
GRCh38: 7:66087779-66087779
23 ASL NM_000048.3(ASL):c.292delG (p.Glu98Serfs) Deletion Pathogenic 224972 rs869312987 GRCh37: 7:65547866-65547866
GRCh38: 7:66082879-66082879
24 ASL NM_000048.4(ASL):c.979del (p.Glu327Argfs) Deletion Pathogenic 649877 rs1584032751 GRCh37: 7:65554598-65554598
GRCh38: 7:66089611-66089611
25 ASL NM_000048.4(ASL):c.1122dup (p.Tyr375fs) Duplication Pathogenic 224978 rs869312993 GRCh37: 7:65557050-65557051
GRCh38: 7:66092063-66092064
26 ASL NC_000007.14:g.(?_66076062)_(66092932_?)del Deletion Pathogenic 652397 GRCh37: 7:65541049-65557919
GRCh38: 7:66076062-66092932
27 ASL NC_000007.14:g.(?_66091986)_(66092932_?)del Deletion Pathogenic 656807 GRCh37: 7:65556973-65557919
GRCh38: 7:66091986-66092932
28 ASL NM_000048.4(ASL):c.436C>T (p.Arg146Trp) SNV Pathogenic 203626 GRCh37: 7:65548151-65548151
GRCh38: 7:66083164-66083164
29 ASL NM_000048.4(ASL):c.557G>A (p.Arg186Gln) SNV Pathogenic 933174 GRCh37: 7:65551763-65551763
GRCh38: 7:66086776-66086776
30 ASL NM_000048.4(ASL):c.637C>T (p.Arg213Ter) SNV Pathogenic 426366 rs761651320 GRCh37: 7:65552355-65552355
GRCh38: 7:66087368-66087368
31 ASL NM_000048.4(ASL):c.649C>T (p.Arg217Ter) SNV Pathogenic 203615 rs369879957 GRCh37: 7:65552367-65552367
GRCh38: 7:66087380-66087380
32 ASL NM_000048.4(ASL):c.602+1G>T SNV Pathogenic 1028027 GRCh37: 7:65551809-65551809
GRCh38: 7:66086822-66086822
33 ASL NM_000048.4(ASL):c.556C>T (p.Arg186Trp) SNV Pathogenic 1050820 GRCh37: 7:65551762-65551762
GRCh38: 7:66086775-66086775
34 ASL NM_000048.4(ASL):c.857A>G (p.Gln286Arg) SNV Pathogenic 2399 rs28941472 GRCh37: 7:65554101-65554101
GRCh38: 7:66089114-66089114
35 ASL NM_000048.4(ASL):c.532G>A (p.Val178Met) SNV Pathogenic 2402 rs28941473 GRCh37: 7:65551738-65551738
GRCh38: 7:66086751-66086751
36 ASL NM_000048.4(ASL):c.1060C>T (p.Gln354Ter) SNV Pathogenic 21253 rs367543005 GRCh37: 7:65554680-65554680
GRCh38: 7:66089693-66089693
37 ASL NM_000048.4(ASL):c.544C>T (p.Arg182Ter) SNV Pathogenic 92362 rs398123126 GRCh37: 7:65551750-65551750
GRCh38: 7:66086763-66086763
38 ASL NM_000048.4(ASL):c.446+1G>A SNV Pathogenic 92361 rs142637046 GRCh37: 7:65548162-65548162
GRCh38: 7:66083175-66083175
39 ASL NM_000048.4(ASL):c.1366C>T (p.Arg456Trp) SNV Pathogenic 660049 rs759396688 GRCh37: 7:65557870-65557870
GRCh38: 7:66092883-66092883
40 ASL NM_000048.4(ASL):c.447-1G>A SNV Pathogenic 552765 rs778254333 GRCh37: 7:65551571-65551571
GRCh38: 7:66086584-66086584
41 ASL NM_000048.4(ASL):c.35G>A (p.Arg12Gln) SNV Pathogenic/Likely pathogenic 92360 rs145138923 GRCh37: 7:65546812-65546812
GRCh38: 7:66081825-66081825
42 ASL NM_000048.4(ASL):c.545G>A (p.Arg182Gln) SNV Pathogenic/Likely pathogenic 203613 rs751590073 GRCh37: 7:65551751-65551751
GRCh38: 7:66086764-66086764
43 ASL NM_000048.4(ASL):c.175G>A (p.Glu59Lys) SNV Pathogenic/Likely pathogenic 224970 rs869312985 GRCh37: 7:65546952-65546952
GRCh38: 7:66081965-66081965
44 ASL NM_000048.4(ASL):c.1135C>T (p.Arg379Cys) SNV Pathogenic/Likely pathogenic 2403 rs28940287 GRCh37: 7:65557065-65557065
GRCh38: 7:66092078-66092078
45 ASL NM_000048.4(ASL):c.1153C>T (p.Arg385Cys) SNV Pathogenic/Likely pathogenic 2401 rs28940286 GRCh37: 7:65557553-65557553
GRCh38: 7:66092566-66092566
46 ASL NM_000048.4(ASL):c.1045_1057del (p.Val349fs) Deletion Pathogenic/Likely pathogenic 203629 rs796051933 GRCh37: 7:65554663-65554675
GRCh38: 7:66089676-66089688
47 ASL NM_000048.4(ASL):c.578G>A (p.Arg193Gln) SNV Pathogenic/Likely pathogenic 372306 rs373697663 GRCh37: 7:65551784-65551784
GRCh38: 7:66086797-66086797
48 ASL NM_000048.4(ASL):c.299T>C (p.Ile100Thr) SNV Pathogenic/Likely pathogenic 495379 rs202142867 GRCh37: 7:65547874-65547874
GRCh38: 7:66082887-66082887
49 ASL NM_000048.4(ASL):c.1255_1256del (p.Leu419fs) Deletion Pathogenic/Likely pathogenic 555167 rs757109353 GRCh37: 7:65557759-65557760
GRCh38: 7:66092772-66092773
50 ASL NM_000048.4(ASL):c.602+1G>A SNV Pathogenic/Likely pathogenic 92365 rs398123127 GRCh37: 7:65551809-65551809
GRCh38: 7:66086822-66086822

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

72 (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 rs155432727
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 rs155432758
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 rs155432820
50 ASL p.Lys380Glu VAR_072221

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:

36
# 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
13.79 SLC25A15 SLC25A13 OTC NAGS HADH GAMT
2
Show member pathways
13.5 SLC25A15 OTC NAGS GAMT CPS1 ASS1
3
Show member pathways
12.13 OTC NAGS CPS1 ASS1 ASL ARG2
4 11.59 OTC HADH CPS1 ASS1 ARG2 ARG1
5
Show member pathways
11.37 GAMT ARG2 ARG1
6 11.24 CPS1 ASS1 ASL ADSL
7
Show member pathways
10.93 OTC NAGS CPS1 ASS1 ASL ARG2
8
Show member pathways
10.61 OTC NAGS GAMT CPS1 ASS1 ASL
9
Show member pathways
10.57 ASS1 ASL

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 mitochondrial inner membrane GO:0005743 9.46 SLC25A15 SLC25A13 OTC CPS1
2 mitochondrial matrix GO:0005759 9.43 OTC NAGS HADH DMGDH CPS1 ARG2
3 mitochondrion GO:0005739 9.28 SLC25A15 SLC25A13 OTC NAGS HADH DMGDH

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.8 OTC HADH CPS1 ASS1 ARG1
2 response to lipopolysaccharide GO:0032496 9.77 CPS1 ASS1 ARG1
3 cellular amino acid biosynthetic process GO:0008652 9.72 OTC ASS1 ASL
4 response to amino acid GO:0043200 9.69 CPS1 ASS1 ARG1
5 response to steroid hormone GO:0048545 9.67 CPS1 ASS1 ARG1
6 liver development GO:0001889 9.67 OTC CPS1 ASS1 ARG1
7 amino acid transmembrane transport GO:0003333 9.61 SLC7A7 SLC25A13
8 response to starvation GO:0042594 9.61 CPS1 ADSL
9 cellular response to glucagon stimulus GO:0071377 9.61 CPS1 ASS1 ARG1
10 cellular response to dexamethasone stimulus GO:0071549 9.6 ASS1 ARG1
11 response to growth hormone GO:0060416 9.58 CPS1 ASS1
12 arginine metabolic process GO:0006525 9.58 ARG2 ARG1
13 cellular response to ammonium ion GO:0071242 9.57 CPS1 ASS1
14 citrulline biosynthetic process GO:0019240 9.56 OTC CPS1
15 cellular response to oleic acid GO:0071400 9.54 CPS1 ASS1
16 arginine biosynthetic process via ornithine GO:0042450 9.52 OTC ASL
17 response to amine GO:0014075 9.5 CPS1 ASS1 ARG1
18 anion homeostasis GO:0055081 9.48 OTC CPS1
19 arginine catabolic process to ornithine GO:0019547 9.46 ARG2 ARG1
20 response to zinc ion GO:0010043 9.46 OTC CPS1 ASS1 ARG1
21 midgut development GO:0007494 9.43 OTC CPS1 ASS1
22 arginine biosynthetic process GO:0006526 9.26 OTC NAGS ASS1 ASL
23 urea cycle GO:0000050 9.23 SLC25A15 OTC NAGS CPS1 ASS1 ASL

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.7 SLC25A13 OTC HADH ASS1 ASL ARG1
2 amino acid binding GO:0016597 9.26 OTC ASS1
3 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidines GO:0016813 8.96 ARG2 ARG1
4 arginase activity GO:0004053 8.62 ARG2 ARG1

Sources for Argininosuccinic Aciduria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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