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 57 12 75 24 53 25 59 74 37 13 44 15 72
Argininosuccinate Lyase Deficiency 57 12 24 53 25 29 55 6
Argininosuccinic Acid Lyase Deficiency 57 24 53 59 74
Asl Deficiency 57 53 25 59 74
Argininosuccinase Deficiency 57 59 74
Arginosuccinase Deficiency 12 25
Argininosuccinic Acidemia 12 25
Argininosuccinicaciduria 53 25
Asa Deficiency 53 59
Asauria 25 74
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 40
Aciduria Argininosuccinic 55
Citrullinemia 72
Arginsa 74
Asld 24
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:
Inheritance autosomal recessive inheritance
Onset and clinical course neonatal onset


Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:14755
OMIM 57 207900
KEGG 37 H01028
NCIt 50 C84569
SNOMED-CT 68 41013004
MESH via Orphanet 45 D056807
ICD10 via Orphanet 34 E72.2
UMLS via Orphanet 73 C0268547
Orphanet 59 ORPHA23
MedGen 42 C0268547
UMLS 72 C0175683 C0268547

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 reye syndrome, 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 Phenylacetic acid and Miconazole 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 : 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. 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 and intellectual disability. Progressive liver damage, skin lesions, and brittle hair may also be seen. Occasionally, an individual may inherit a mild form of the disorder in which ammonia accumulates in the bloodstream only during periods of illness or other stress.

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)

KEGG : 37
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 : 74 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 : 75 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 230)
# Related Disease Score Top Affiliating Genes
1 carbamoyl phosphate synthetase i deficiency, hyperammonemia due to 31.6 OTC NAGS ASS1
2 reye syndrome 29.9 OTC ASS1
3 autosomal recessive disease 29.7 SLC25A13 ASS1
4 orotic aciduria 29.6 OTC ASS1 ASL
5 carbonic anhydrase va deficiency, hyperammonemia due to 29.5 SLC25A13 OTC NAGS ASS1
6 phenylketonuria 29.3 OTC ADSL
7 citrullinemia, classic 29.0 SLC25A13 OTC NAGS ASS1
8 argininemia 28.9 OTC NAGS ASS1 ASL
9 urea cycle disorder 28.8 SLC25A13 OTC NAGS ASS1 ASL
10 ornithine transcarbamylase deficiency, hyperammonemia due to 28.1 SLC25A13 OTC NAGS ASS1 ASL
11 transient cerebral ischemia 11.6
12 asthma, nasal polyps, and aspirin intolerance 11.4
13 mini stroke 11.2
14 branchiootic syndrome 1 11.2
15 aspirin allergy 11.2
16 inflammatory spondylopathy 10.7
17 spondylitis 10.7
18 spondyloarthropathy 1 10.7
19 ataxia and polyneuropathy, adult-onset 10.4
20 back pain 10.4
21 ocular motor apraxia 10.3
22 uveitis 10.3
23 urticaria 10.3
24 learning disability 10.3
25 allergic hypersensitivity disease 10.3
26 rheumatic disease 10.3
27 enthesopathy 10.3
28 aceruloplasminemia 10.2
29 seizure disorder 10.2
30 ige responsiveness, atopic 10.2
31 peripheral vascular disease 10.2
32 cardiac arrest 10.2
33 angioedema 10.2
34 hypogonadism 10.2
35 hypogonadotropism 10.2
36 gyrate atrophy of choroid and retina 10.2
37 congenital hypothyroidism 10.2
38 hypothyroidism 10.2
39 ornithinemia 10.2
40 vascular disease 10.2
41 ischemia 10.2
42 attention deficit-hyperactivity disorder 10.1
43 fatty liver disease, nonalcoholic 1 10.1
44 alacrima, achalasia, and mental retardation syndrome 10.1
45 alcohol use disorder 10.1
46 hepatitis 10.1
47 chronic kidney disease 10.1
48 intracranial hypertension 10.1
49 posttransplant acute limbic encephalitis 10.1
50 metachromatic leukodystrophy 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:

59 32 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 aminoaciduria 59 32 hallmark (90%) Very frequent (99-80%) HP:0003355
2 oroticaciduria 59 32 hallmark (90%) Very frequent (99-80%) HP:0003218
3 hypoargininemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0005961
4 hyperglutaminemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003217
5 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
6 ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0001251
7 eeg abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0002353
8 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
9 hyperammonemia 59 32 frequent (33%) Frequent (79-30%) HP:0001987
10 abnormal hair quantity 59 32 occasional (7.5%) Occasional (29-5%) HP:0011362
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 protein avoidance 32 HP:0002038
25 respiratory alkalosis 32 HP:0001950
26 brittle hair 32 HP:0002299
27 dry hair 32 HP:0011359
28 elevated serum aspartate aminotransferase 32 HP:0031956

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
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:

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 27)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Phenylacetic acid Approved Phase 2 103-82-2 999
2
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
3 4-phenylbutyric acid Phase 2
4 arginine Phase 2
5 Antifungal Agents Phase 2
6 Sodium Benzoate Phase 2
7 Antimetabolites Phase 2
8 Anti-Infective Agents Phase 2
9 Antimetabolites, Antineoplastic Phase 2
10 Hematinics Phase 2
11
carbamide peroxide Approved Phase 1 124-43-6
12
Ornithine Approved, Nutraceutical Phase 1 70-26-8, 3184-13-2 6262
13 Liver Extracts Phase 1
14
Nitric Oxide Approved 10102-43-9 145068
15 Neurotransmitter Agents
16 Respiratory System Agents
17 Free Radical Scavengers
18 Antioxidants
19 Protective Agents
20 Autonomic Agents
21 Endothelium-Dependent Relaxing Factors
22 Vasodilator Agents
23 Anti-Asthmatic Agents
24 Peripheral Nervous System Agents
25 Bronchodilator Agents
26 glutamine
27 Vaccines

Interventional clinical trials:

(show all 15)
# 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 Hypothermia Treatment in Hyperammonemia and Encephalopathy Completed NCT01624311 Phase 2
3 Phase II Study of Sodium Phenylbutyrate, Sodium Benzoate, Sodium Phenylacetate, and Dietary Intervention for Urea Cycle Disorders Completed NCT00004767 Phase 2 Sodium Benzoate;Sodium Phenylacetate;Sodium Phenylbutyrate
4 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
5 Hepatocyte Transplantation for Liver Based Metabolic Disorders Suspended NCT01345578 Phase 1 human hepatocyte transplantation
6 Evaluation of Citrullinemia as a Marker of Bowel Damage After Allogeneic Bone Marrow Transplantation in Children Unknown status NCT00751452
7 RDCRN 5110, Nitric Oxide Flux and Ureagenesis in Argininosuccinate Synthetase Deficiency (ASSD)(Citrullinemia I)(Version 24Feb12, NIH Approved 4/5/2012) Completed NCT01610089
8 Study of Non Major Microcirculation During Extracorporeal Circulation : Relation Between Endothelial Dysfunction and Digestive Completed NCT01389947
9 Open, Prospective, Diagnostic, Multicentre Study in Healthy Subjects, Patients With Urea Cycle Disorders (UCD), and Carriers of UCD Mutations, to Evaluate in Vivo Ureagenesis Measured After a Single Application of Sodium [1,2-13C]-Acetate Completed NCT01549015
10 Effect of Nitric Oxide (NO) Supplementation on Neurocognitive Measures in Argininosuccinate Lyase Deficiency (ASLD) Recruiting NCT03064048
11 Neuroimaging and Neuropsychological Outcomes in Urea Cycle Disorders Recruiting NCT02935283
12 Nitric Oxide Supplementation as a Therapeutic Intervention in Argininosuccinic Aciduria Recruiting NCT02252770
13 Prospective Cross-Sectional Non-invasive Assessment of Chronic Liver Disease in Urea Cycle Disorders Recruiting NCT03721367
14 Citrullinemia for the Prediction of Enteral Nutrition Tolerance Among Critically Ill Patients Not yet recruiting NCT03967795 N2-L-Alanyl-L-Glutamine (Substance)
15 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, Brain, Endothelial, Bone, Bone Marrow, Testes

Publications for Argininosuccinic Aciduria

Articles related to Argininosuccinic Aciduria:

(show top 50) (show all 306)
# Title Authors PMID Year
1
Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families. 9 38 4 8 71
12408190 2002
2
Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene. 9 38 8 71
12384776 2002
3
Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene. 9 38 4 8
17326097 2007
4
Dietary management reverses grooving and abnormal polarization of hair shafts in argininosuccinase deficiency. 9 38 4 8
1897577 1991
5
Argininosuccinate Lyase Deficiency Causes an Endothelial-Dependent Form of Hypertension. 38 4 8
30075114 2018
6
Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduria. 38 4 8
22541557 2012
7
Molecular analysis of human argininosuccinate lyase: mutant characterization and alternative splicing of the coding region. 8 71
2263616 1990
8
A familial study of a human enzyme defect, argininosuccinic aciduria. 38 4 8
5836520 1964
9
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. 4 8
1594374 1992
10
Argininosuccinic aciduria: from a monogenic to a complex disorder. 38 8
23306800 2013
11
Argininosuccinate Lyase Deficiency 38 71
21290785 2011
12
Long-term outcome of patients with argininosuccinate lyase deficiency diagnosed by newborn screening in Austria. 9 38 4
20236848 2010
13
Argininosuccinate lyase deficiency: longterm outcome of 13 patients detected by newborn screening. 9 38 4
19635676 2009
14
Functional complementation in yeast allows molecular characterization of missense argininosuccinate lyase mutations. 9 38 4
19703900 2009
15
Cross-sectional multicenter study of patients with urea cycle disorders in the United States. 9 38 4
18562231 2008
16
Identification of a common novel mutation in Saudi patients with argininosuccinic aciduria. 9 38 4
16435180 2005
17
Progressive liver fibrosis in late-onset argininosuccinate lyase deficiency. 9 38 4
12370774 2002
18
Intragenic complementation and the structure and function of argininosuccinate lyase. 9 38 4
11092456 2000
19
Fatal hyperammonaemia in argininosuccinic aciduria following enflurane anaesthesia. 38 8
9504797 1998
20
Prenatal diagnosis of the urea cycle diseases: a survey of the European cases. 9 38 4
7717428 1995
21
Transabdominal chorionic villus sampling in a multiple pregnancy at risk of argininosuccinic aciduria: a case report. 38 8
2389802 1990
22
Argininosuccinate lyase deficiency: evidence for heterogeneous structural gene mutations by immunoblotting. 38 8
3752080 1986
23
Interallelic complementation in an inborn error of metabolism: genetic heterogeneity in argininosuccinate lyase deficiency. 38 8
6589607 1984
24
Studies on complementation in argininosuccinate synthetase and argininosuccinate lyase deficiencies in human fibroblasts. 38 8
7250970 1981
25
Neonatal argininosuccinic aciduria-survival after early diagnosis and dietary management. 38 8
7359236 1980
26
Argininosuccinic aciduria: prenatal studies in a family at risk. 38 8
484552 1979
27
Argininosuccinic aciduria: metabolic studies and effects of treatment with keto-analogues of essential amino acids. 38 8
668730 1978
28
Enzymologic and metabolic studies in two families affected by argininosuccinic aciduria. 38 8
652408 1978
29
Lethal neonatal argininosuccinate lyase deficiency in four children from one sibship. 38 8
1017984 1976
30
Neonatal argininosuccinic aciduria with normal brain and kidney but absent liver argininosuccinate lyase activity. 38 8
174426 1976
31
Antenatal diagnosis of argininosuccinic aciduria. 38 8
4765206 1973
32
Argininosuccinic aciduria. Case report with neuropathological findings. 38 8
5422414 1970
33
Argininosuccinic aciduria. Report of two new cases and demonstration of intermittent elevation of blood ammonia. 38 8
6016480 1967
34
Argininosuccinic aciduria, an inborn error of amino acid metabolism. 38 8
14464548 1961
35
Expanding the phenotype in argininosuccinic aciduria: need for new therapies. 38 4
28251416 2017
36
A longitudinal study of urea cycle disorders. 8
25135652 2014
37
A randomized controlled trial to evaluate the effects of high-dose versus low-dose of arginine therapy on hepatic function tests in argininosuccinic aciduria. 38 4
23040521 2012
38
Optimizing therapy for argininosuccinic aciduria. 38 4
22841516 2012
39
Inherited metabolic disorders and stroke part 2: homocystinuria, organic acidurias, and urea cycle disorders. 8
20142522 2010
40
Prenatal diagnosis of citrullinemia and argininosuccinic aciduria: evidence for a transmission ratio distortion in citrullinemia. 38 4
16475226 2006
41
Urea Cycle Disorders Overview 71
20301396 2003
42
Liver transplantation in urea cycle disorders. 38 4
10603100 1999
43
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. 38 4
7682674 1993
44
Arginine therapy of argininosuccinase deficiency. 8
84150 1979
45
Argininosuccinic aciduria: investigation of an affected family. 38 4
12119962 1974
46
Deficient argininosuccinase activity in brain in argininosuccinicaciduria. 8
4175179 1968
47
Arginosuccine aciduria. 8
6015896 1967
48
A disease, probably hereditary characterised by severe mental deficiency and a constant gross abnormality of aminoacid metabolism. 8
13503250 1958
49
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype. 4
25875216 2015
50
Population screening in a Druze community: the challenge and the reward. 9 38
19092443 2008

Variations for Argininosuccinic Aciduria

ClinVar genetic disease variations for Argininosuccinic Aciduria:

6 (show top 50) (show all 125)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ASL NM_000048.4(ASL): c.637C> T (p.Arg213Ter) single nucleotide variant Pathogenic rs761651320 7:65552355-65552355 7:66087368-66087368
2 ASL NM_000048.4(ASL): c.94_100del (p.Arg32fs) deletion Pathogenic rs1554326263 7:65546871-65546877 7:66081884-66081890
3 ASL NM_000048.3(ASL) deletion Pathogenic rs1329070853 7:65554665-65554689 7:66089678-66089702
4 ASL NM_000048.4(ASL): c.447-1G> A single nucleotide variant Pathogenic rs778254333 7:65551571-65551571 7:66086584-66086584
5 ASL NM_000048.4(ASL): c.283C> T (p.Arg95Cys) single nucleotide variant Pathogenic rs28940585 7:65547430-65547430 7:66082443-66082443
6 ASL NM_000048.4(ASL): c.857A> G (p.Gln286Arg) single nucleotide variant Pathogenic rs28941472 7:65554101-65554101 7:66089114-66089114
7 ASL ASL, IVS5DS, G-A, +1 single nucleotide variant Pathogenic
8 ASL NM_000048.4(ASL): c.532G> A (p.Val178Met) single nucleotide variant Pathogenic rs28941473 7:65551738-65551738 7:66086751-66086751
9 ASL NM_000048.4(ASL): c.1060C> T (p.Gln354Ter) single nucleotide variant Pathogenic rs367543005 7:65554680-65554680 7:66089693-66089693
10 ASL NM_000048.4(ASL): c.346C> T (p.Gln116Ter) single nucleotide variant Pathogenic rs367543006 7:65547921-65547921 7:66082934-66082934
11 ASL NM_000048.4(ASL): c.446+1G> A single nucleotide variant Pathogenic rs142637046 7:65548162-65548162 7:66083175-66083175
12 ASL NM_000048.4(ASL): c.544C> T (p.Arg182Ter) single nucleotide variant Pathogenic rs398123126 7:65551750-65551750 7:66086763-66086763
13 ASL NM_000048.4(ASL): c.649C> T (p.Arg217Ter) single nucleotide variant Pathogenic rs369879957 7:65552367-65552367 7:66087380-66087380
14 ASL NM_000048.4(ASL): c.257A> C (p.Glu86Ala) single nucleotide variant Pathogenic rs869312986 7:65547404-65547404 7:66082417-66082417
15 ASL NM_000048.3(ASL): c.292delG (p.Glu98Serfs) deletion Pathogenic rs869312987 7:65547867-65547867 7:66082880-66082880
16 ASL NM_000048.4(ASL): c.461T> C (p.Leu154Pro) single nucleotide variant Pathogenic rs869312988 7:65551586-65551586 7:66086599-66086599
17 ASL NM_000048.4(ASL): c.575_580dup (p.Lys192_Arg193dup) duplication Pathogenic rs869312989 7:65551781-65551786 7:66086794-66086799
18 ASL NM_000048.4(ASL): c.762C> A (p.Ser254Arg) single nucleotide variant Pathogenic rs869312991 7:65553837-65553837 7:66088850-66088850
19 ASL NM_000048.4(ASL): c.889C> T (p.Arg297Trp) single nucleotide variant Pathogenic rs869312992 7:65554133-65554133 7:66089146-66089146
20 ASL NM_000048.4(ASL): c.1122dup (p.Tyr375fs) duplication Pathogenic rs869312993 7:65557052-65557052 7:66092065-66092065
21 ASL NM_000048.4(ASL): c.1360C> T (p.Gln454Ter) single nucleotide variant Pathogenic rs869312994 7:65557864-65557864 7:66092877-66092877
22 ASL NM_000048.4(ASL): c.524+2T> G single nucleotide variant Pathogenic rs869312976 7:65551651-65551651 7:66086664-66086664
23 ASL NM_000048.4(ASL): c.376C> T (p.Arg126Trp) single nucleotide variant Pathogenic 7:65548091-65548091 7:66083104-66083104
24 ASL NM_000048.4(ASL): c.765dup (p.Met256fs) duplication Pathogenic 7:65553840-65553840 7:66088853-66088853
25 ASL NM_000048.4(ASL): c.1366C> T (p.Arg456Trp) single nucleotide variant Pathogenic 7:65557870-65557870 7:66092883-66092883
26 ASL NC_000007.13: g.(?_65541049)_(65557919_?)del deletion Pathogenic 7:65541049-65557919 7:66076062-66092932
27 ASL NC_000007.13: g.(?_65556973)_(65557919_?)del deletion Pathogenic 7:65556973-65557919 7:66091986-66092932
28 ASL NM_000048.4(ASL): c.979del (p.Glu327Argfs) deletion Pathogenic
29 ASL NM_000048.4(ASL): c.175G> A (p.Glu59Lys) single nucleotide variant Pathogenic/Likely pathogenic rs869312985 7:65546952-65546952 7:66081965-66081965
30 ASL NM_000048.4(ASL): c.1045_1057del (p.Val349fs) deletion Pathogenic/Likely pathogenic rs796051933 7:65554665-65554677 7:66089678-66089690
31 ASL NM_000048.4(ASL): c.545G> A (p.Arg182Gln) single nucleotide variant Pathogenic/Likely pathogenic rs751590073 7:65551751-65551751 7:66086764-66086764
32 ASL NM_000048.4(ASL): c.602+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs398123127 7:65551809-65551809 7:66086822-66086822
33 ASL NM_000048.4(ASL): c.35G> A (p.Arg12Gln) single nucleotide variant Pathogenic/Likely pathogenic rs145138923 7:65546812-65546812 7:66081825-66081825
34 ASL NM_000048.4(ASL): c.1135C> T (p.Arg379Cys) single nucleotide variant Pathogenic/Likely pathogenic rs28940287 7:65557065-65557065 7:66092078-66092078
35 ASL NM_000048.4(ASL): c.1153C> T (p.Arg385Cys) single nucleotide variant Pathogenic/Likely pathogenic rs28940286 7:65557553-65557553 7:66092566-66092566
36 ASL NM_000048.4(ASL): c.337C> T (p.Arg113Trp) single nucleotide variant Pathogenic/Likely pathogenic rs767543051 7:65547912-65547912 7:66082925-66082925
37 ASL NM_000048.4(ASL): c.299T> C (p.Ile100Thr) single nucleotide variant Pathogenic/Likely pathogenic rs202142867 7:65547874-65547874 7:66082887-66082887
38 ASL NM_000048.4(ASL): c.578G> A (p.Arg193Gln) single nucleotide variant Pathogenic/Likely pathogenic rs373697663 7:65551784-65551784 7:66086797-66086797
39 ASL NM_000048.4(ASL): c.973_976del (p.Leu325fs) deletion Likely pathogenic rs763407938 7:65554314-65554318 7:66089330-66089333
40 ASL NM_000048.4(ASL): c.283_285delinsGGCG (p.Arg95fs) indel Likely pathogenic rs1554326365 7:65547429-65547432 7:66082443-66082445
41 ASL NM_000048.4(ASL): c.338G> A (p.Arg113Gln) single nucleotide variant Likely pathogenic rs752783461 7:65547913-65547913 7:66082926-66082926
42 ASL NM_000048.4(ASL): c.735G> A (p.Trp245Ter) single nucleotide variant Likely pathogenic rs1554327573 7:65553810-65553810 7:66088823-66088823
43 ASL NM_000048.4(ASL): c.1105del (p.Leu369fs) deletion Likely pathogenic rs1554328206 7:65557034-65557035 7:66092048-66092048
44 ASL NM_000048.4(ASL): c.1207del (p.Val403fs) deletion Likely pathogenic rs1554328363 7:65557602-65557603 7:66092620-66092620
45 ASL NM_000048.4(ASL): c.1255_1256del (p.Leu419fs) deletion Likely pathogenic rs757109353 7:65557758-65557760 7:66092772-66092773
46 ASL NM_000048.4(ASL): c.1325del (p.Gly442fs) deletion Likely pathogenic rs1554328479 7:65557827-65557828 7:66092842-66092842
47 ASL NM_000048.4(ASL): c.1311T> G (p.Tyr437Ter) single nucleotide variant Likely pathogenic rs932494060 7:65557815-65557815 7:66092828-66092828
48 ASL NM_000048.4(ASL): c.13-1G> C single nucleotide variant Likely pathogenic rs1554326239 7:65546789-65546789 7:66081802-66081802
49 ASL NM_000048.4(ASL): c.292G> T (p.Glu98Ter) single nucleotide variant Likely pathogenic rs770375565 7:65547867-65547867 7:66082880-66082880
50 ASL NM_000048.4(ASL): c.566A> G (p.Glu189Gly) single nucleotide variant Likely pathogenic rs756363516 7:65551772-65551772 7:66086785-66086785

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

74 (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:

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
13.49 SLC25A13 OTC NAGS ASS1 ASL ADSL
2
Show member pathways
11.88 OTC NAGS ASS1 ASL
3 11.36 OTC ASS1
4 10.89 ASS1 ASL ADSL
5
Show member pathways
10.67 OTC NAGS ASS1 ASL
6
Show member pathways
10.44 ASS1 ASL
7
Show member pathways
10.3 OTC NAGS 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 mitochondrion GO:0005739 8.92 SLC25A13 OTC NAGS ASS1

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

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 ASL ADSL
2 amino acid binding GO:0016597 8.62 OTC ASS1

Sources for Argininosuccinic Aciduria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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