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MCID: ARG002
MIFTS: 57

Argininosuccinic Aciduria

Categories: Genetic diseases, Rare diseases, Metabolic diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Argininosuccinic Aciduria

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MalaCards integrated aliases for Argininosuccinic Aciduria:

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

Characteristics:

Orphanet epidemiological data:

59
argininosuccinic aciduria
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Worldwide),1-9/1000000 (Finland),1-9/100000 (Europe); Age of onset: All ages,Neonatal; Age of death: any age,infantile;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

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


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Inborn errors of metabolism


Sources

Summaries for Argininosuccinic Aciduria

About this section
NIH Rare Diseases : 53 Argininosuccinic aciduria is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia. Argininosuccinic aciduria usually becomes evident in the first few days of life. An infant with argininosuccinic aciduria may be lacking in energy (lethargic) or unwilling to eat, and have poorly controlled breathing rate or body temperature. Some babies with this disorder experience seizures or unusual body movements, or go into a coma. Complications from argininosuccinic aciduria may include developmental delay, intellectual disability, progressive liver damage, skin lesions, and brittle hair. The condition is caused by mutations in the ASL gene and is inherited in an autosomal recessive pattern. Long-term management includes dietary restriction of protein and supplementation with arginine. Acute crises may be treated by discontinuing oral protein intake, supplementing oral intake with intravenous lipids and/or glucose, and use of intravenous arginine and nitrogen scavenging therapy. If ammonia levels do not normalize, hemodialysis may be necessary.

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

OMIM : 57 Argininosuccinic aciduria is an autosomal recessive disorder of the urea cycle. Urea cycle disorders are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis. Five disorders involving different defects in the biosynthesis of the enzymes of the urea cycle have been described: ornithine transcarbamylase deficiency (311250), carbamyl phosphate synthetase deficiency (237300), argininosuccinate synthetase deficiency, or citrullinemia (215700), argininosuccinate lyase deficiency, and arginase deficiency (207800). Erez (2013) reviewed argininosuccinic aciduria and progress in understanding it as a monogenic disorder that, like other inborn errors of metabolism, manifests as a multifactorial disorder at the phenotypic level. (207900)

UniProtKB/Swiss-Prot : 75 Argininosuccinic aciduria: An autosomal recessive disorder of the urea cycle. The disease is characterized by mental and physical retardation, liver enlargement, skin lesions, dry and brittle hair showing trichorrhexis nodosa microscopically and fluorescing red, convulsions, and episodic unconsciousness.

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.

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

Wikipedia : 76 Argininosuccinic aciduria, also called argininosuccinic acidemia, is an inherited disorder that causes... more...

GeneReviews: NBK51784
Sources

Related Diseases for Argininosuccinic Aciduria

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

(show all 44)
# Related Disease Score Top Affiliating Genes
1 carbamoyl phosphate synthetase i deficiency, hyperammonemia due to 30.5 ASS1 NAGS OTC
2 argininemia 29.8 ASL ASS1 NAGS OTC
3 ornithine transcarbamylase deficiency, hyperammonemia due to 29.8 ASL ASS1 NAGS OTC
4 orotic aciduria 29.2 ASL ASS1 OTC
5 urea cycle disorder 28.2 ASL ASS1 NAGS OTC
6 asthma, nasal polyps, and aspirin intolerance 11.1
7 branchiootic syndrome 1 10.9
8 transient cerebral ischemia 10.9
9 mini stroke 10.9
10 spondyloarthropathy 1 10.0
11 asthma 10.0
12 aortic disease 10.0
13 spondylitis 10.0
14 postpartum psychosis 10.0 ASS1 OTC
15 monilethrix 9.9
16 maple syrup urine disease 9.9
17 aging 9.9
18 alopecia 9.9
19 hepatitis 9.9
20 atrioventricular block 9.9
21 epilepsy 9.9
22 hair disease 9.9
23 peritonitis 9.9
24 reye syndrome 9.9 ASS1 OTC
25 encephalopathy 9.9
26 metachromatic leukodystrophy 9.8
27 leukodystrophy 9.8
28 spondyloarthropathy 9.8
29 patent foramen ovale 9.8
30 urticaria 9.8
31 ischemia 9.8
32 infertility 9.8
33 spasmodic dysphonia 9.8
34 aneurysm 9.8
35 atrial septal aneurysm 9.8
36 lysinuric protein intolerance 9.8 ASL ASS1
37 multiple sclerosis 9.7
38 leukemia, chronic lymphocytic 9.7
39 histidine metabolism disease 9.7 ADSL SLC6A18
40 citrullinemia, classic 9.6 ASL ASS1 OTC
41 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 9.3 NAGS OTC
42 histidinemia 9.2 ADSL SLC6A18
43 carbonic anhydrase va deficiency, hyperammonemia due to 9.1 ASS1 NAGS OTC
44 propionic acidemia 9.0 ASS1 NAGS OTC

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



Diseases related to Argininosuccinic Aciduria
Sources

Symptoms & Phenotypes for Argininosuccinic Aciduria

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Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
ataxia
coma
cerebral edema
developmental delay
more
Abdomen Liver:
hepatomegaly
hepatic fibrosis
elevated serum glutamic oxaloacetic transaminase (sgot)
elevated serum glutamic pyruvic transaminase (sgpt)

Neurologic Behavioral Psychiatric Manifestations:
irritability
lethargy

Metabolic Features:
episodic ammonia intoxication
respiratory alkalosis
arginine deficiency

Growth Other:
failure to thrive

Abdomen Gastrointestinal:
vomiting
poor feeding
protein avoidance

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


Clinical features from OMIM:

207900

Human phenotypes related to Argininosuccinic Aciduria:

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

UMLS symptoms related to Argininosuccinic Aciduria:


ataxia, lethargy, seizures, vomiting

MGI Mouse Phenotypes related to Argininosuccinic Aciduria:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 8.92 ASL ASS1 NAGS OTC
Sources

Drugs & Therapeutics for Argininosuccinic Aciduria

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

(show all 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nitric Oxide Approved Phase 2,Not Applicable 10102-43-9 145068 160954
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
4 4-phenylbutyric acid Phase 2
5 Liver Extracts Phase 2
6 arginine Nutraceutical Phase 2
7 Respiratory System Agents Not Applicable
8 Neurotransmitter Agents Not Applicable
9 Vasodilator Agents Not Applicable
10 Anti-Asthmatic Agents Not Applicable
11 Endothelium-Dependent Relaxing Factors Not Applicable
12 Peripheral Nervous System Agents Not Applicable
13 Antioxidants Not Applicable
14 Protective Agents Not Applicable
15 Autonomic Agents Not Applicable
16 Bronchodilator Agents Not Applicable
17 Vaccines

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Arginine and Buphenyl in Patients With Argininosuccinic Aciduria (ASA), a Urea Cycle Disorder Completed NCT00345605 Phase 2 Sodium Phenylbutyrate;Arginine
2 Pilot Study For Hypothermia Treatment In Hyperammonemic Encephalopathy In Neonates And Very Young Infants Completed NCT01624311 Phase 2
3 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 Not Applicable
5 Nitric Oxide Supplementation on Neurocognitive Functions in Patients With ASLD Recruiting NCT03064048 Not Applicable
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

Sources

Genetic Tests for Argininosuccinic Aciduria

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Genetic tests related to Argininosuccinic Aciduria:

# Genetic test Affiliating Genes
1 Argininosuccinate Lyase Deficiency 29 ASL
Sources

Anatomical Context for Argininosuccinic Aciduria

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MalaCards organs/tissues related to Argininosuccinic Aciduria:

41
Liver, Skin, Testes, Brain, Kidney
Sources

Publications for Argininosuccinic Aciduria

About this section

Articles related to Argininosuccinic Aciduria:

(show top 50) (show all 93)
# Title Authors Year
1
A retrospective biochemical, molecular, and neurocognitive review of Saudi patients with argininosuccinic aciduria. ( 29326055 )
2018
2
Expanding the phenotype in argininosuccinic aciduria: need for new therapies. ( 28251416 )
2017
3
NGS in argininosuccinic aciduria detects a mutation (D145G) which drives alternative splicing of ASL: a case report study. ( 26843370 )
2016
4
Argininosuccinic Aciduria-A Rare Indication for Liver Transplant: Report of Two Cases. ( 26768012 )
2016
5
Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria. ( 25778938 )
2015
6
Quantitative amino acid analysis by liquid chromatography-tandem mass spectrometry: implications for the diagnosis of argininosuccinic aciduria. ( 25598409 )
2015
7
Atrioventricular block in siblings with argininosuccinic aciduria. ( 25889439 )
2015
8
Argininosuccinic aciduria: from a monogenic to a complex disorder. ( 23306800 )
2013
9
Understanding the role of argininosuccinate lyase transcript variants in the clinical and biochemical variability of the urea cycle disorder argininosuccinic aciduria. ( 24136197 )
2013
10
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
11
Optimizing therapy for argininosuccinic aciduria. ( 22841516 )
2012
12
Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria. ( 21667091 )
2012
13
Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduria. ( 22541557 )
2012
14
Yeast complementation is sufficiently sensitive to detect the residual activity of ASL alleles associated with mild forms of argininosuccinic aciduria. ( 22231378 )
2012
15
Rhode Island metabolic newborn screening: the effect of early identification. A case report of argininosuccinic aciduria (ASA). ( 21710918 )
2011
16
Epilepsy and argininosuccinic aciduria. ( 21744316 )
2011
17
Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond. ( 21312326 )
2011
18
Novel mutations underlying argininosuccinic aciduria in Saudi Arabia. ( 20298553 )
2010
19
Argininosuccinic aciduria: clinical and biochemical phenotype findings in Malaysian children. ( 21329179 )
2010
20
Experience with the treatment of argininosuccinic aciduria during pregnancy. ( 19585269 )
2009
21
Living related liver transplant in a patient with argininosuccinic aciduria and cirrhosis: metabolic follow-up. ( 18367960 )
2008
22
Liver transplantation for argininosuccinic aciduria: clinical, biochemical, and metabolic outcome. ( 18161830 )
2008
23
Prenatal diagnosis of citrullinemia and argininosuccinic aciduria: evidence for a transmission ratio distortion in citrullinemia. ( 16475226 )
2006
24
Identification of a common novel mutation in Saudi patients with argininosuccinic aciduria. ( 16435180 )
2005
25
A mouse model of argininosuccinic aciduria: biochemical characterization. ( 12559843 )
2003
26
A novel stop codon mutation (X465Y) in the argininosuccinate lyase gene in a patient with argininosuccinic aciduria. ( 12512996 )
2002
27
Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families. ( 12408190 )
2002
28
13C NMR spectroscopy: a convenient tool for detection of argininosuccinic aciduria. ( 11489385 )
2001
29
Fatal hyperammonaemia in argininosuccinic aciduria following enflurane anaesthesia. ( 9504797 )
1998
30
Use of amniotic fluid amino acids in prenatal testing for argininosuccinic aciduria and citrullinaemia. ( 8843999 )
1996
31
Pregnancy and argininosuccinic aciduria. ( 8892017 )
1996
32
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
33
Late onset argininosuccinic aciduria in a paranoid retardate. ( 1790264 )
1991
34
Prenatal diagnosis of argininosuccinic aciduria by assay of argininosuccinate in amniotic fluid at the 12th week of gestation. ( 2333894 )
1990
35
Transabdominal chorionic villus sampling in a multiple pregnancy at risk of argininosuccinic aciduria: a case report. ( 2389802 )
1990
36
Argininosuccinic aciduria--an underdiagnosed cause of neonatal death? ( 2711176 )
1989
37
Diagnosis of argininosuccinic aciduria after valproic acid-induced hyperammonemia. ( 3106853 )
1987
38
Molecular basis of enzyme abnormalities in urea cycle disorders. With special reference to citrullinemia and argininosuccinic aciduria. ( 3440446 )
1987
39
Argininosuccinic aciduria: long-term treatment with arginine. ( 3116334 )
1987
40
Severe liver fibrosis in argininosuccinic aciduria. ( 3753845 )
1986
41
High-performance liquid chromatographic assay of argininosuccinate: its application in argininosuccinic aciduria and in normal man. ( 3088323 )
1986
42
Absence of argininosuccinate lyase protein in the liver of two patients with argininosuccinic aciduria. ( 3757266 )
1986
43
Rapid detection of argininosuccinic aciduria and citrullinuria by fast atom bombardment and tandem mass spectrometry. ( 3698313 )
1986
44
Anorexia and altered serotonin metabolism in a patient with argininosuccinic aciduria. ( 2422338 )
1986
45
Argininosuccinic aciduria. A developmental and biochemical case study. ( 6886731 )
1983
46
Argininosuccinic aciduria in adult: a clinical, electrophysiological and biochemical study. ( 7164925 )
1982
47
First case of argininosuccinic aciduria in Japan: clinical observations and treatment. ( 7164926 )
1982
48
Guanidinosuccinic acid excretion in argininosuccinic aciduria. ( 7164917 )
1982
49
Argininosuccinic aciduria in a Finnish woman presenting with psychosis and mental retardation. ( 7137886 )
1982
50
Prenatal diagnosis of argininosuccinic aciduria: effect of mycoplasma contamination on the indirect assay for argininosuccinate lyase. ( 7424915 )
1980
Sources

Variations for Argininosuccinic Aciduria

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

75 (show top 50) (show all 59)
# Symbol AA change Variation ID SNP ID
1 ASL p.Arg95Cys VAR_000676 rs28940585
2 ASL p.Arg111Trp VAR_000677 rs138310841
3 ASL p.Arg193Gln VAR_000678 rs373697663
4 ASL p.Gln286Arg VAR_000679 rs28941472
5 ASL p.Val178Met VAR_017572 rs28941473
6 ASL p.Arg379Cys VAR_017573 rs28940287
7 ASL p.Arg385Cys VAR_017574 rs28940286
8 ASL p.Asp31Asn VAR_043106 rs754995756
9 ASL p.Arg113Gln VAR_043107 rs752783461
10 ASL p.Arg186Gln VAR_043108 rs752397242
11 ASL p.Arg236Trp VAR_043109 rs761268464
12 ASL p.Val335Leu VAR_043110
13 ASL p.Met382Arg VAR_043111
14 ASL p.Arg456Trp VAR_043112 rs759396688
15 ASL p.Val70Ala VAR_072186 rs1027739421Argininosuccinic
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 rs1057141162Argininosuccinic
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 top 50) (show all 115)
# Gene Variation Type Significance SNP ID Assembly Location
1 ASL NM_000048.3(ASL): c.283C> T (p.Arg95Cys) single nucleotide variant Pathogenic rs28940585 GRCh37 Chromosome 7, 65547430: 65547430
2 ASL NM_000048.3(ASL): c.283C> T (p.Arg95Cys) single nucleotide variant Pathogenic rs28940585 GRCh38 Chromosome 7, 66082443: 66082443
3 ASL NM_000048.3(ASL): c.857A> G (p.Gln286Arg) single nucleotide variant Pathogenic rs28941472 GRCh37 Chromosome 7, 65554101: 65554101
4 ASL NM_000048.3(ASL): c.857A> G (p.Gln286Arg) single nucleotide variant Pathogenic rs28941472 GRCh38 Chromosome 7, 66089114: 66089114
5 ASL ASL, IVS5DS, G-A, +1 single nucleotide variant Pathogenic
6 ASL NM_001024943.1(ASL): c.1153C> T (p.Arg385Cys) single nucleotide variant Pathogenic/Likely pathogenic rs28940286 GRCh37 Chromosome 7, 65557553: 65557553
7 ASL NM_001024943.1(ASL): c.1153C> T (p.Arg385Cys) single nucleotide variant Pathogenic/Likely pathogenic rs28940286 GRCh38 Chromosome 7, 66092566: 66092566
8 ASL NM_000048.3(ASL): c.532G> A (p.Val178Met) single nucleotide variant Pathogenic rs28941473 GRCh37 Chromosome 7, 65551738: 65551738
9 ASL NM_000048.3(ASL): c.532G> A (p.Val178Met) single nucleotide variant Pathogenic rs28941473 GRCh38 Chromosome 7, 66086751: 66086751
10 ASL NM_000048.3(ASL): c.1135C> T (p.Arg379Cys) single nucleotide variant Pathogenic/Likely pathogenic rs28940287 GRCh37 Chromosome 7, 65557065: 65557065
11 ASL NM_000048.3(ASL): c.1135C> T (p.Arg379Cys) single nucleotide variant Pathogenic/Likely pathogenic rs28940287 GRCh38 Chromosome 7, 66092078: 66092078
12 ASL NM_000048.3(ASL): c.1060C> T (p.Gln354Ter) single nucleotide variant Pathogenic rs367543005 GRCh37 Chromosome 7, 65554680: 65554680
13 ASL NM_000048.3(ASL): c.1060C> T (p.Gln354Ter) single nucleotide variant Pathogenic rs367543005 GRCh38 Chromosome 7, 66089693: 66089693
14 ASL NM_001024943.1(ASL): c.346C> T (p.Gln116Ter) single nucleotide variant Pathogenic rs367543006 GRCh37 Chromosome 7, 65547921: 65547921
15 ASL NM_001024943.1(ASL): c.346C> T (p.Gln116Ter) single nucleotide variant Pathogenic rs367543006 GRCh38 Chromosome 7, 66082934: 66082934
16 ASL NM_000048.3(ASL): c.280C> T (p.Arg94Cys) single nucleotide variant Pathogenic rs374304304 GRCh37 Chromosome 7, 65547427: 65547427
17 ASL NM_000048.3(ASL): c.280C> T (p.Arg94Cys) single nucleotide variant Pathogenic rs374304304 GRCh38 Chromosome 7, 66082440: 66082440
18 ASL NM_000048.3(ASL): c.35G> A (p.Arg12Gln) single nucleotide variant Pathogenic/Likely pathogenic rs145138923 GRCh37 Chromosome 7, 65546812: 65546812
19 ASL NM_000048.3(ASL): c.35G> A (p.Arg12Gln) single nucleotide variant Pathogenic/Likely pathogenic rs145138923 GRCh38 Chromosome 7, 66081825: 66081825
20 ASL NM_000048.3(ASL): c.446+1G> A single nucleotide variant Pathogenic rs142637046 GRCh37 Chromosome 7, 65548162: 65548162
21 ASL NM_000048.3(ASL): c.446+1G> A single nucleotide variant Pathogenic rs142637046 GRCh38 Chromosome 7, 66083175: 66083175
22 ASL NM_000048.3(ASL): c.544C> T (p.Arg182Ter) single nucleotide variant Pathogenic rs398123126 GRCh37 Chromosome 7, 65551750: 65551750
23 ASL NM_000048.3(ASL): c.544C> T (p.Arg182Ter) single nucleotide variant Pathogenic rs398123126 GRCh38 Chromosome 7, 66086763: 66086763
24 ASL NM_001024943.1(ASL): c.291+1G> T single nucleotide variant Likely pathogenic rs201523601 GRCh37 Chromosome 7, 65547439: 65547439
25 ASL NM_001024943.1(ASL): c.291+1G> T single nucleotide variant Likely pathogenic rs201523601 GRCh38 Chromosome 7, 66082452: 66082452
26 ASL NM_000048.3(ASL): c.392C> T (p.Thr131Met) single nucleotide variant Benign/Likely benign rs143793815 GRCh37 Chromosome 7, 65548107: 65548107
27 ASL NM_000048.3(ASL): c.392C> T (p.Thr131Met) single nucleotide variant Benign/Likely benign rs143793815 GRCh38 Chromosome 7, 66083120: 66083120
28 ASL NM_000048.3(ASL): c.545G> A (p.Arg182Gln) single nucleotide variant Pathogenic rs751590073 GRCh37 Chromosome 7, 65551751: 65551751
29 ASL NM_000048.3(ASL): c.545G> A (p.Arg182Gln) single nucleotide variant Pathogenic rs751590073 GRCh38 Chromosome 7, 66086764: 66086764
30 ASL NM_000048.3(ASL): c.614C> T (p.Ala205Val) single nucleotide variant Uncertain significance rs796051925 GRCh37 Chromosome 7, 65552332: 65552332
31 ASL NM_000048.3(ASL): c.614C> T (p.Ala205Val) single nucleotide variant Uncertain significance rs796051925 GRCh38 Chromosome 7, 66087345: 66087345
32 ASL NM_000048.3(ASL): c.461T> C (p.Leu154Pro) single nucleotide variant Pathogenic rs869312988 GRCh37 Chromosome 7, 65551586: 65551586
33 ASL NM_000048.3(ASL): c.175G> A (p.Glu59Lys) single nucleotide variant Pathogenic/Likely pathogenic rs869312985 GRCh37 Chromosome 7, 65546952: 65546952
34 ASL NM_000048.3(ASL): c.175G> A (p.Glu59Lys) single nucleotide variant Pathogenic/Likely pathogenic rs869312985 GRCh38 Chromosome 7, 66081965: 66081965
35 ASL NM_000048.3(ASL): c.257A> C (p.Glu86Ala) single nucleotide variant Pathogenic rs869312986 GRCh37 Chromosome 7, 65547404: 65547404
36 ASL NM_000048.3(ASL): c.257A> C (p.Glu86Ala) single nucleotide variant Pathogenic rs869312986 GRCh38 Chromosome 7, 66082417: 66082417
37 ASL NM_000048.3(ASL): c.292delG (p.Glu98Serfs) deletion Pathogenic rs869312987 GRCh37 Chromosome 7, 65547867: 65547867
38 ASL NM_000048.3(ASL): c.292delG (p.Glu98Serfs) deletion Pathogenic rs869312987 GRCh38 Chromosome 7, 66082880: 66082880
39 ASL NM_000048.3(ASL): c.461T> C (p.Leu154Pro) single nucleotide variant Pathogenic rs869312988 GRCh38 Chromosome 7, 66086599: 66086599
40 ASL NM_000048.3(ASL): c.575_580dupAGCGGA (p.Arg193_Ile194insLysArg) duplication Pathogenic rs869312989 GRCh37 Chromosome 7, 65551781: 65551786
41 ASL NM_000048.3(ASL): c.575_580dupAGCGGA (p.Arg193_Ile194insLysArg) duplication Pathogenic rs869312989 GRCh38 Chromosome 7, 66086794: 66086799
42 ASL NM_000048.3(ASL): c.718+5G> A single nucleotide variant Pathogenic rs869312990 GRCh38 Chromosome 7, 66087796: 66087796
43 ASL NM_000048.3(ASL): c.718+5G> A single nucleotide variant Pathogenic rs869312990 GRCh37 Chromosome 7, 65552783: 65552783
44 ASL NM_000048.3(ASL): c.762C> A (p.Ser254Arg) single nucleotide variant Pathogenic rs869312991 GRCh38 Chromosome 7, 66088850: 66088850
45 ASL NM_000048.3(ASL): c.762C> A (p.Ser254Arg) single nucleotide variant Pathogenic rs869312991 GRCh37 Chromosome 7, 65553837: 65553837
46 ASL NM_000048.3(ASL): c.889C> T (p.Arg297Trp) single nucleotide variant Pathogenic rs869312992 GRCh38 Chromosome 7, 66089146: 66089146
47 ASL NM_000048.3(ASL): c.889C> T (p.Arg297Trp) single nucleotide variant Pathogenic rs869312992 GRCh37 Chromosome 7, 65554133: 65554133
48 ASL NM_000048.3(ASL): c.1122dupC (p.Tyr375Leufs) duplication Pathogenic rs869312993 GRCh37 Chromosome 7, 65557052: 65557052
49 ASL NM_000048.3(ASL): c.1122dupC (p.Tyr375Leufs) duplication Pathogenic rs869312993 GRCh38 Chromosome 7, 66092065: 66092065
50 ASL NM_000048.3(ASL): c.1360C> T (p.Gln454Ter) single nucleotide variant Pathogenic rs869312994 GRCh38 Chromosome 7, 66092877: 66092877
Sources

Expression for Argininosuccinic Aciduria

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Search GEO for disease gene expression data for Argininosuccinic Aciduria.
Sources

Pathways for Argininosuccinic Aciduria

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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
Carbon metabolism 37
Show member pathways
 11.88 ASL ASS1 NAGS OTC
2
Amino Acid metabolism 1
11.33 ASS1 OTC
3
Alanine, aspartate and glutamate metabolism 37
10.88 ADSL ASL ASS1
4
Arginine biosynthesis 37
Show member pathways
 10.67 ASL ASS1 NAGS OTC
5
Alanine and aspartate metabolism 1
Show member pathways
 10.44 ASL ASS1
6
Urea cycle and metabolism of amino groups 1
Show member pathways
 10.3 ASL ASS1 NAGS OTC
Sources

GO Terms for Argininosuccinic Aciduria

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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 ADSL ASS1 NAGS OTC

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

# Name GO ID Score Top Affiliating Genes
1 liver development GO:0001889 9.43 ASS1 OTC
2 response to nutrient GO:0007584 9.4 ADSL ASS1
3 response to zinc ion GO:0010043 9.37 ASS1 OTC
4 cellular amino acid biosynthetic process GO:0008652 9.33 ASL ASS1 OTC
5 midgut development GO:0007494 9.32 ASS1 OTC
6 arginine biosynthetic process via ornithine GO:0042450 9.26 ASL OTC
7 urea cycle GO:0000050 9.26 ASL ASS1 NAGS OTC
8 arginine biosynthetic process GO:0006526 8.92 ASL ASS1 NAGS OTC

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

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

Sources for Argininosuccinic Aciduria

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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