MCID: ARG002
MIFTS: 58

Argininosuccinic Aciduria

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Argininosuccinic Aciduria

MalaCards integrated aliases for Argininosuccinic Aciduria:

Name: Argininosuccinic Aciduria 54 12 50 24 25 56 71 13 42 14 69
Argininosuccinate Lyase Deficiency 12 23 50 24 25 29 52
Asl Deficiency 23 50 24 25 56 71
Argininosuccinic Acid Lyase Deficiency 23 50 24 56 71
Argininosuccinase Deficiency 56 71
Arginosuccinase Deficiency 12 25
Argininosuccinic Acidemia 12 25
Argininosuccinicaciduria 50 25
Asa Deficiency 50 56
Asauria 25 71
Asa 24 25
Inborn Error of Urea Synthesis, Arginino Succinic Type 50
Urea Cycle Disorder, Arginino Succinase Type 50
Deficiency of Argininosuccinate Lyase 12
Argininosuccinyl-Coa Lyase Deficiency 25
Argininosuccinatelyase Deficiency 56
Arginino Succinase Deficiency 50
Argininosuccinate Acidemia 50
Aciduria Argininosuccinic 52
Argininosuccinate Lyase 13
Citrullinemia 69
Arginsa 71

Characteristics:

Orphanet epidemiological data:

56
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:

54
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: 56  
Inborn errors of metabolism


Summaries for Argininosuccinic Aciduria

NIH Rare Diseases : 50 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. last updated: 4/29/2011

MalaCards based summary : Argininosuccinic Aciduria, also known as argininosuccinate lyase deficiency, is related to ornithine transcarbamylase deficiency and carbamoylphosphate synthetase i deficiency, and has symptoms including short stature, ataxia and aminoaciduria. An important gene associated with Argininosuccinic Aciduria is ASL (Argininosuccinate Lyase), and among its related pathways/superpathways are Carbon metabolism and Amino Acid metabolism. The drugs Nitric Oxide and Acetohydroxamic Acid have been mentioned in the context of this disorder. Affiliated tissues include liver, skin and testes, and related phenotype is integument.

UniProtKB/Swiss-Prot : 71 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.

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 : 54
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)

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

Wikipedia : 72 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 64)
id Related Disease Score Top Affiliating Genes
1 ornithine transcarbamylase deficiency 11.1
2 carbamoylphosphate synthetase i deficiency 11.1
3 argininemia 11.1
4 asthma, aspirin-induced 10.8
5 mini stroke 10.8
6 transient cerebral ischemia 10.8
7 branchiootic syndrome 1 10.8
8 urea cycle disorder 10.1
9 hypothalamic adipsic hypernatraemia syndrome 10.0 ASS1 OTC
10 citrullinemia 10.0
11 malignant cardiac peripheral nerve sheath neoplasm 9.9 ASS1 OTC
12 immunodeficiency 7, tcr-alpha/beta deficient 9.9 ASL ASS1
13 aortic disease 9.9
14 spondylitis 9.9
15 hailey-hailey disease 9.9 ASS1 OTC
16 asthma 9.8
17 hyperammonemia 9.8
18 alopecia 9.8
19 epilepsy 9.8
20 hepatitis 9.8
21 orotic aciduria 9.8
22 atrioventricular block 9.8
23 hair disease 9.8
24 monilethrix 9.8
25 peritonitis 9.8
26 spondyloarthropathy 9.7
27 metachromatic leukodystrophy 9.7
28 spasmodic dysphonia 9.7
29 patent foramen ovale 9.7
30 urticaria 9.7
31 aneurysm 9.7
32 encephalopathy 9.7
33 atrial septal aneurysm 9.7
34 infertility 9.7
35 leukodystrophy 9.7
36 chromosome xp21 deletion syndrome 9.7 ASL ASS1 OTC
37 c syndrome 9.7 ASL ASS1 OTC
38 leukemia, chronic lymphocytic 3 9.6 ASL ASS1 OTC
39 pulmonary hypertension, neonatal 9.6 ASS1 NAGS OTC
40 trichotillomania 9.6
41 intrinsic asthma 9.6
42 coronary thrombosis 9.6
43 encephalitis 9.6
44 cardiac sarcoidosis 9.6
45 acute liver failure 9.6
46 angioedema 9.6
47 arthritis 9.6
48 hypogonadism 9.6
49 tremor 9.6
50 joint disorders 9.6

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:

54

Growth- Other:
failure to thrive

Abdomen- Liver:
hepatomegaly
hepatic fibrosis
elevated serum glutamic oxaloacetic transaminase (sgot)
elevated serum glutamic pyruvic transaminase (sgpt)

Abdomen- Gastroin testinal:
poor feeding
vomiting
protein avoidance

Metabolic Features:
episodic ammonia intoxication
respiratory alkalosis
arginine deficiency

Neurologic- Central Nervous System:
mental retardation
ataxia
developmental delay
seizures
coma
more
Neurologic- Behavioral Psychiatric Manifestations:
lethargy
irritability

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:

56 32 (show all 26)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 frequent (33%) Frequent (79-30%) HP:0004322
2 ataxia 56 32 frequent (33%) Frequent (79-30%) HP:0001251
3 aminoaciduria 56 32 hallmark (90%) Very frequent (99-80%) HP:0003355
4 hyperammonemia 56 32 frequent (33%) Frequent (79-30%) HP:0001987
5 intellectual disability 56 32 frequent (33%) Frequent (79-30%) HP:0001249
6 trichorrhexis nodosa 56 32 occasional (7.5%) Occasional (29-5%) HP:0009886
7 eeg abnormality 56 32 frequent (33%) Frequent (79-30%) HP:0002353
8 abnormal hair quantity 56 32 occasional (7.5%) Occasional (29-5%) HP:0011362
9 oroticaciduria 56 32 hallmark (90%) Very frequent (99-80%) HP:0003218
10 hypoargininemia 56 32 hallmark (90%) Very frequent (99-80%) HP:0005961
11 hyperglutaminemia 56 32 hallmark (90%) Very frequent (99-80%) HP:0003217
12 failure to thrive 32 HP:0001508
13 hepatomegaly 32 HP:0002240
14 seizures 32 HP:0001250
15 lethargy 32 HP:0001254
16 irritability 32 HP:0000737
17 global developmental delay 32 HP:0001263
18 vomiting 32 HP:0002013
19 coma 32 HP:0001259
20 cerebral edema 32 HP:0002181
21 hepatic fibrosis 32 HP:0001395
22 feeding difficulties in infancy 32 HP:0008872
23 protein avoidance 32 HP:0002038
24 episodic ammonia intoxication 32 HP:0001951
25 respiratory alkalosis 32 HP:0001950
26 dry hair 32 HP:0011359

UMLS symptoms related to Argininosuccinic Aciduria:


ataxia, lethargy, seizures, vomiting

MGI Mouse Phenotypes related to Argininosuccinic Aciduria:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 8.92 ASL ASS1 NAGS OTC

Drugs & Therapeutics for Argininosuccinic Aciduria

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

(show all 17)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nitric Oxide Approved Phase 2 10102-43-9 145068
2
Acetohydroxamic Acid Approved Phase 1, Phase 2 546-88-3 1990
3
Ornithine Approved, Nutraceutical Phase 2 70-26-8, 3184-13-2 6262 389
4 4-phenylbutyric acid Phase 2
5 Liver Extracts Phase 2
6 arginine Nutraceutical Phase 2
7 Anti-Asthmatic Agents
8 Antioxidants
9 Autonomic Agents
10 Bronchodilator Agents
11 Endothelium-Dependent Relaxing Factors
12 Neurotransmitter Agents
13 Peripheral Nervous System Agents
14 Protective Agents
15 Respiratory System Agents
16 Vasodilator Agents
17 Vaccines

Interventional clinical trials:


id 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 Urease Inhibitor Drug Treatment for Urea Cycle Disorders Not yet recruiting NCT02670889 Phase 1, Phase 2 Acetohydroxamic Acid;Isotopic Intravenous [13C]-Urea
4 Nitric Oxide Supplementation in Argininosuccinic Aciduria Recruiting NCT02252770
5 Nitric Oxide Supplementation on Neurocognitive Functions in Patients With ASLD Recruiting NCT03064048
6 Neuroimaging and Neuropsychological Outcomes in Urea Cycle Disorders Recruiting NCT02935283
7 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:

id Genetic test Affiliating Genes
1 Argininosuccinate Lyase Deficiency 29 24 ASL
2 Argininosuccinic Aciduria 24 ASL

Anatomical Context for Argininosuccinic Aciduria

MalaCards organs/tissues related to Argininosuccinic Aciduria:

39
Liver, Skin, Testes, Brain, Kidney

Publications for Argininosuccinic Aciduria

Articles related to Argininosuccinic Aciduria:

(show top 50) (show all 92)
id Title Authors Year
1
Expanding the phenotype in argininosuccinic aciduria: need for new therapies. ( 28251416 )
2017
2
Argininosuccinic Aciduria-A Rare Indication for Liver Transplant: Report of Two Cases. ( 26768012 )
2016
3
NGS in argininosuccinic aciduria detects a mutation (D145G) which drives alternative splicing of ASL: a case report study. ( 26843370 )
2016
4
Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria. ( 25778938 )
2015
5
Quantitative amino acid analysis by liquid chromatography-tandem mass spectrometry: implications for the diagnosis of argininosuccinic aciduria. ( 25598409 )
2015
6
Atrioventricular block in siblings with argininosuccinic aciduria. ( 25889439 )
2015
7
Argininosuccinic aciduria: from a monogenic to a complex disorder. ( 23306800 )
2013
8
Understanding the role of argininosuccinate lyase transcript variants in the clinical and biochemical variability of the urea cycle disorder argininosuccinic aciduria. ( 24136197 )
2013
9
Yeast complementation is sufficiently sensitive to detect the residual activity of ASL alleles associated with mild forms of argininosuccinic aciduria. ( 22231378 )
2012
10
Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria. ( 21667091 )
2012
11
Optimizing therapy for argininosuccinic aciduria. ( 22841516 )
2012
12
Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduria. ( 22541557 )
2012
13
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
14
Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond. ( 21312326 )
2011
15
Epilepsy and argininosuccinic aciduria. ( 21744316 )
2011
16
Rhode Island metabolic newborn screening: the effect of early identification. A case report of argininosuccinic aciduria (ASA). ( 21710918 )
2011
17
Argininosuccinic aciduria: clinical and biochemical phenotype findings in Malaysian children. ( 21329179 )
2010
18
Novel mutations underlying argininosuccinic aciduria in Saudi Arabia. ( 20298553 )
2010
19
Experience with the treatment of argininosuccinic aciduria during pregnancy. ( 19585269 )
2009
20
Liver transplantation for argininosuccinic aciduria: clinical, biochemical, and metabolic outcome. ( 18161830 )
2008
21
Living related liver transplant in a patient with argininosuccinic aciduria and cirrhosis: metabolic follow-up. ( 18367960 )
2008
22
Prenatal diagnosis of citrullinemia and argininosuccinic aciduria: evidence for a transmission ratio distortion in citrullinemia. ( 16475226 )
2006
23
Identification of a common novel mutation in Saudi patients with argininosuccinic aciduria. ( 16435180 )
2005
24
A mouse model of argininosuccinic aciduria: biochemical characterization. ( 12559843 )
2003
25
Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families. ( 12408190 )
2002
26
A novel stop codon mutation (X465Y) in the argininosuccinate lyase gene in a patient with argininosuccinic aciduria. ( 12512996 )
2002
27
13C NMR spectroscopy: a convenient tool for detection of argininosuccinic aciduria. ( 11489385 )
2001
28
Fatal hyperammonaemia in argininosuccinic aciduria following enflurane anaesthesia. ( 9504797 )
1998
29
Pregnancy and argininosuccinic aciduria. ( 8892017 )
1996
30
Use of amniotic fluid amino acids in prenatal testing for argininosuccinic aciduria and citrullinaemia. ( 8843999 )
1996
31
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
32
Late onset argininosuccinic aciduria in a paranoid retardate. ( 1790264 )
1991
33
Prenatal diagnosis of argininosuccinic aciduria by assay of argininosuccinate in amniotic fluid at the 12th week of gestation. ( 2333894 )
1990
34
Transabdominal chorionic villus sampling in a multiple pregnancy at risk of argininosuccinic aciduria: a case report. ( 2389802 )
1990
35
Argininosuccinic aciduria--an underdiagnosed cause of neonatal death? ( 2711176 )
1989
36
Diagnosis of argininosuccinic aciduria after valproic acid-induced hyperammonemia. ( 3106853 )
1987
37
Argininosuccinic aciduria: long-term treatment with arginine. ( 3116334 )
1987
38
Molecular basis of enzyme abnormalities in urea cycle disorders. With special reference to citrullinemia and argininosuccinic aciduria. ( 3440446 )
1987
39
Absence of argininosuccinate lyase protein in the liver of two patients with argininosuccinic aciduria. ( 3757266 )
1986
40
Severe liver fibrosis in argininosuccinic aciduria. ( 3753845 )
1986
41
Anorexia and altered serotonin metabolism in a patient with argininosuccinic aciduria. ( 2422338 )
1986
42
Rapid detection of argininosuccinic aciduria and citrullinuria by fast atom bombardment and tandem mass spectrometry. ( 3698313 )
1986
43
High-performance liquid chromatographic assay of argininosuccinate: its application in argininosuccinic aciduria and in normal man. ( 3088323 )
1986
44
Argininosuccinic aciduria. A developmental and biochemical case study. ( 6886731 )
1983
45
First case of argininosuccinic aciduria in Japan: clinical observations and treatment. ( 7164926 )
1982
46
Argininosuccinic aciduria in adult: a clinical, electrophysiological and biochemical study. ( 7164925 )
1982
47
Argininosuccinic aciduria in a Finnish woman presenting with psychosis and mental retardation. ( 7137886 )
1982
48
Guanidinosuccinic acid excretion in argininosuccinic aciduria. ( 7164917 )
1982
49
Prenatal diagnosis of argininosuccinic aciduria: effect of mycoplasma contamination on the indirect assay for argininosuccinate lyase. ( 7424915 )
1980
50
Neonatal survival after early diagnosis and treatment of argininosuccinic aciduria. ( 7431187 )
1980

Variations for Argininosuccinic Aciduria

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

71 (show top 50) (show all 59)
id 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
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
30 ASL p.Arg182Gln VAR_072201 rs751590073
31 ASL p.Arg191Trp VAR_072202 rs143508372
32 ASL p.Arg193Trp VAR_072203
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 all 25)
id 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.857A> G (p.Gln286Arg) single nucleotide variant Pathogenic rs28941472 GRCh37 Chromosome 7, 65554101: 65554101
3 ASL ASL, IVS5DS, G-A, +1 single nucleotide variant Pathogenic
4 ASL NM_001024943.1(ASL): c.1153C> T (p.Arg385Cys) single nucleotide variant Pathogenic/Likely pathogenic rs28940286 GRCh37 Chromosome 7, 65557553: 65557553
5 ASL NM_000048.3(ASL): c.532G> A (p.Val178Met) single nucleotide variant Pathogenic rs28941473 GRCh37 Chromosome 7, 65551738: 65551738
6 ASL NM_000048.3(ASL): c.1135C> T (p.Arg379Cys) single nucleotide variant Pathogenic rs28940287 GRCh37 Chromosome 7, 65557065: 65557065
7 ASL NM_000048.3(ASL): c.1060C> T (p.Gln354Ter) single nucleotide variant Pathogenic rs367543005 GRCh37 Chromosome 7, 65554680: 65554680
8 ASL NM_001024943.1(ASL): c.346C> T (p.Gln116Ter) single nucleotide variant Pathogenic rs367543006 GRCh37 Chromosome 7, 65547921: 65547921
9 ASL NM_000048.3(ASL): c.35G> A (p.Arg12Gln) single nucleotide variant Pathogenic/Likely pathogenic rs145138923 GRCh37 Chromosome 7, 65546812: 65546812
10 ASL NM_000048.3(ASL): c.446+1G> A single nucleotide variant Pathogenic rs142637046 GRCh37 Chromosome 7, 65548162: 65548162
11 ASL NM_000048.3(ASL): c.544C> T (p.Arg182Ter) single nucleotide variant Pathogenic rs398123126 GRCh37 Chromosome 7, 65551750: 65551750
12 ASL NM_001024943.1(ASL): c.291+1G> T single nucleotide variant Likely pathogenic rs201523601 GRCh37 Chromosome 7, 65547439: 65547439
13 ASL NM_000048.3(ASL): c.545G> A (p.Arg182Gln) single nucleotide variant Pathogenic rs751590073 GRCh37 Chromosome 7, 65551751: 65551751
14 ASL NM_000048.3(ASL): c.1360C> T (p.Gln454Ter) single nucleotide variant Pathogenic rs869312994 GRCh37 Chromosome 7, 65557864: 65557864
15 ASL NM_000048.3(ASL): c.175G> A (p.Glu59Lys) single nucleotide variant Pathogenic/Likely pathogenic rs869312985 GRCh37 Chromosome 7, 65546952: 65546952
16 ASL NM_000048.3(ASL): c.257A> C (p.Glu86Ala) single nucleotide variant Pathogenic rs869312986 GRCh37 Chromosome 7, 65547404: 65547404
17 ASL NM_000048.3(ASL): c.292delG (p.Glu98Serfs) deletion Pathogenic rs869312987 GRCh37 Chromosome 7, 65547867: 65547867
18 ASL NM_000048.3(ASL): c.461T> C (p.Leu154Pro) single nucleotide variant Pathogenic rs869312988 GRCh37 Chromosome 7, 65551586: 65551586
19 ASL NM_000048.3(ASL): c.575_580dupAGCGGA (p.Arg193_Ile194insLysArg) duplication Pathogenic rs869312989 GRCh37 Chromosome 7, 65551781: 65551786
20 ASL NM_000048.3(ASL): c.718+5G> A single nucleotide variant Pathogenic rs869312990 GRCh37 Chromosome 7, 65552783: 65552783
21 ASL NM_000048.3(ASL): c.762C> A (p.Ser254Arg) single nucleotide variant Pathogenic rs869312991 GRCh37 Chromosome 7, 65553837: 65553837
22 ASL NM_000048.3(ASL): c.889C> T (p.Arg297Trp) single nucleotide variant Pathogenic rs869312992 GRCh37 Chromosome 7, 65554133: 65554133
23 ASL NM_000048.3(ASL): c.1122dupC (p.Tyr375Leufs) duplication Pathogenic rs869312993 GRCh37 Chromosome 7, 65557052: 65557052
24 ASL NM_000048.3(ASL): c.524+2T> G single nucleotide variant Pathogenic rs869312976 GRCh37 Chromosome 7, 65551651: 65551651
25 ASL NM_000048.3(ASL): c.1079T> C (p.Met360Thr) single nucleotide variant Pathogenic rs875989948 GRCh37 Chromosome 7, 65557009: 65557009

Expression for Argininosuccinic Aciduria

Search GEO for disease gene expression data for Argininosuccinic Aciduria.

Pathways for Argininosuccinic Aciduria

GO Terms for Argininosuccinic Aciduria

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

id Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 8.92 ADSL ASS1 NAGS OTC

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

id Name GO ID Score Top Affiliating Genes
1 cellular amino acid biosynthetic process GO:0008652 9.33 ASL ASS1 OTC
2 urea cycle GO:0000050 9.26 ASL ASS1 NAGS OTC
3 cellular amino acid metabolic process GO:0006520 9.02 OTC
4 arginine biosynthetic process via ornithine GO:0042450 8.96 ASL
5 arginine biosynthetic process GO:0006526 8.92 ASL ASS1 NAGS OTC

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

id 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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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