ARGINSA
MCID: ARG002
MIFTS: 57

Argininosuccinic Aciduria (ARGINSA) malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Argininosuccinic Aciduria

Aliases & Descriptions for Argininosuccinic Aciduria:

Name: Argininosuccinic Aciduria 54 12 50 24 25 56 66 13 42 14 69
Argininosuccinate Lyase Deficiency 12 23 50 24 25 52
Asl Deficiency 23 50 24 25 56 66
Argininosuccinic Acid Lyase Deficiency 23 50 24 56 66
Deficiency of Argininosuccinate Lyase 12 29
Argininosuccinase Deficiency 56 66
Arginosuccinase Deficiency 12 25
Argininosuccinic Acidemia 12 25
Argininosuccinicaciduria 50 25
Asa Deficiency 50 56
Asauria 25 66
Asa 24 25
Inborn Error of Urea Synthesis, Arginino Succinic Type 50
Urea Cycle Disorder, Arginino Succinase Type 50
Argininosuccinyl-Coa Lyase Deficiency 25
Argininosuccinatelyase Deficiency 56
Arginino Succinase Deficiency 50
Argininosuccinate Acidemia 50
Aciduria Argininosuccinic 52
Argininosuccinate Lyase 13
Citrullinemia 69
Arginsa 66

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;

HPO:

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


Classifications:

Orphanet: 56  
Inborn errors of metabolism


External Ids:

OMIM 54 207900
Disease Ontology 12 DOID:14755
NCIt 47 C84569
SNOMED-CT 64 124630007 41013004
Orphanet 56 ORPHA23
MESH via Orphanet 43 D056807
UMLS via Orphanet 70 C0268547
ICD10 via Orphanet 34 E72.2
MedGen 40 C0268547
UMLS 69 C0268547

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 ataxia, intellectual disability and eeg abnormality. 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.

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

Genetics Home Reference : 25 Argininosuccinic aciduria is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia.

OMIM : 54 Argininosuccinic aciduria is an autosomal recessive disorder of the urea cycle. Urea cycle disorders are characterized... (207900) more...

UniProtKB/Swiss-Prot : 66 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 : 71 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 62)
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 mini stroke 10.8
5 transient cerebral ischemia 10.8
6 branchiootic syndrome 1 10.8
7 asthma, aspirin-induced 10.8
8 urea cycle disorder 10.1
9 ichthyosis, congenital, autosomal recessive 1 10.0 ASL ASS1
10 malignant cardiac peripheral nerve sheath neoplasm 10.0 ASS1 OTC
11 citrullinemia 10.0
12 pentosuria 9.9 ADSL SLC6A18
13 c syndrome 9.9 ASL ASS1 OTC
14 carnitine acetyltransferase deficiency 9.9 ASL ASS1 OTC
15 aortic disease 9.9
16 spondylitis 9.9
17 chromosome xp21 deletion syndrome 9.9 ASL ASS1 OTC
18 lip disease 9.9 ADSL SLC6A18
19 retinitis pigmentosa 4, autosomal dominant or recessive 9.9 ASS1 OTC
20 asthma 9.8
21 alopecia 9.8
22 epilepsy 9.8
23 hepatitis 9.8
24 orotic aciduria 9.8
25 atrioventricular block 9.8
26 hair disease 9.8
27 peritonitis 9.8
28 monilethrix 9.8
29 hyperammonemia 9.8
30 pulmonary hypertension, neonatal 9.7 ASS1 NAGS OTC
31 patent foramen ovale 9.7
32 aneurysm 9.7
33 urticaria 9.7
34 encephalopathy 9.7
35 atrial septal aneurysm 9.7
36 infertility 9.7
37 leukodystrophy 9.7
38 spondyloarthropathy 9.7
39 spasmodic dysphonia 9.7
40 metachromatic leukodystrophy 9.7
41 ifih1-related aicardi-goutieres syndrome 9.7 ASL NAGS OTC
42 cardiomyopathy, dilated, 1j 9.6 ASL ASS1 NAGS OTC
43 waldenstrom macroglobulinemia 9.6 ASL ASS1 NAGS OTC
44 acute liver failure 9.6
45 angioedema 9.6
46 arthritis 9.6
47 tremor 9.6
48 hypogonadism 9.6
49 joint disorders 9.6
50 osteoporotic fracture 9.6

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



Diseases related to Argininosuccinic Aciduria

Symptoms & Phenotypes for Argininosuccinic Aciduria

Symptoms by clinical synopsis from OMIM:

207900

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

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 4-phenylbutyric acid Phase 2
4 Liver Extracts Phase 2
5 arginine Nutraceutical Phase 2
6
Ornithine Nutraceutical Phase 2 3184-13-2 6262 389
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
1 Arginine and Buphenyl in Patients With Argininosuccinic Aciduria (ASA), a Urea Cycle Disorder Completed NCT00345605 Phase 2
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
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
NGS in argininosuccinic aciduria detects a mutation (D145G) which drives alternative splicing of ASL: a case report study. ( 26843370 )
2016
3
Argininosuccinic Aciduria-A Rare Indication for Liver Transplant: Report of Two Cases. ( 26768012 )
2016
4
Atrioventricular block in siblings with argininosuccinic aciduria. ( 25889439 )
2015
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
Understanding the role of argininosuccinate lyase transcript variants in the clinical and biochemical variability of the urea cycle disorder argininosuccinic aciduria. ( 24136197 )
2013
8
Argininosuccinic aciduria: from a monogenic to a complex disorder. ( 23306800 )
2013
9
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
10
Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduria. ( 22541557 )
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
Yeast complementation is sufficiently sensitive to detect the residual activity of ASL alleles associated with mild forms of argininosuccinic aciduria. ( 22231378 )
2012
14
Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond. ( 21312326 )
2011
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
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
Living related liver transplant in a patient with argininosuccinic aciduria and cirrhosis: metabolic follow-up. ( 18367960 )
2008
21
Liver transplantation for argininosuccinic aciduria: clinical, biochemical, and metabolic outcome. ( 18161830 )
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
A novel stop codon mutation (X465Y) in the argininosuccinate lyase gene in a patient with argininosuccinic aciduria. ( 12512996 )
2002
26
Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families. ( 12408190 )
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
Use of amniotic fluid amino acids in prenatal testing for argininosuccinic aciduria and citrullinaemia. ( 8843999 )
1996
30
Pregnancy and argininosuccinic aciduria. ( 8892017 )
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
Molecular basis of enzyme abnormalities in urea cycle disorders. With special reference to citrullinemia and argininosuccinic aciduria. ( 3440446 )
1987
37
Argininosuccinic aciduria: long-term treatment with arginine. ( 3116334 )
1987
38
Diagnosis of argininosuccinic aciduria after valproic acid-induced hyperammonemia. ( 3106853 )
1987
39
Rapid detection of argininosuccinic aciduria and citrullinuria by fast atom bombardment and tandem mass spectrometry. ( 3698313 )
1986
40
Absence of argininosuccinate lyase protein in the liver of two patients with argininosuccinic aciduria. ( 3757266 )
1986
41
High-performance liquid chromatographic assay of argininosuccinate: its application in argininosuccinic aciduria and in normal man. ( 3088323 )
1986
42
Severe liver fibrosis in argininosuccinic aciduria. ( 3753845 )
1986
43
Anorexia and altered serotonin metabolism in a patient with argininosuccinic aciduria. ( 2422338 )
1986
44
Argininosuccinic aciduria. A developmental and biochemical case study. ( 6886731 )
1983
45
Guanidinosuccinic acid excretion in argininosuccinic aciduria. ( 7164917 )
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
First case of argininosuccinic aciduria in Japan: clinical observations and treatment. ( 7164926 )
1982
49
Mild variant of argininosuccinic aciduria. ( 6796754 )
1980
50
Argininosuccinic acid synthetase deficiency in a hamster cell line and its complementation of argininosuccinic aciduria human fibroblasts. ( 6777600 )
1980

Variations for Argininosuccinic Aciduria

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

66 (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, IVS5, 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.175G> A (p.Glu59Lys) single nucleotide variant Pathogenic rs869312985 GRCh37 Chromosome 7, 65546952: 65546952
15 ASL NM_000048.3(ASL): c.257A> C (p.Glu86Ala) single nucleotide variant Pathogenic rs869312986 GRCh37 Chromosome 7, 65547404: 65547404
16 ASL NM_000048.3(ASL): c.292delG (p.Glu98Serfs) deletion Pathogenic rs869312987 GRCh37 Chromosome 7, 65547867: 65547867
17 ASL NM_000048.3(ASL): c.461T> C (p.Leu154Pro) single nucleotide variant Pathogenic rs869312988 GRCh38 Chromosome 7, 66086599: 66086599
18 ASL NM_000048.3(ASL): c.575_580dupAGCGGA (p.Arg193_Ile194insLysArg) duplication Pathogenic rs869312989 GRCh37 Chromosome 7, 65551781: 65551786
19 ASL NM_000048.3(ASL): c.718+5G> A single nucleotide variant Pathogenic rs869312990 GRCh38 Chromosome 7, 66087796: 66087796
20 ASL NM_000048.3(ASL): c.762C> A (p.Ser254Arg) single nucleotide variant Pathogenic rs869312991 GRCh38 Chromosome 7, 66088850: 66088850
21 ASL NM_000048.3(ASL): c.889C> T (p.Arg297Trp) single nucleotide variant Pathogenic rs869312992 GRCh38 Chromosome 7, 66089146: 66089146
22 ASL NM_000048.3(ASL): c.1122dupC (p.Tyr375Leufs) duplication Pathogenic rs869312993 GRCh37 Chromosome 7, 65557052: 65557052
23 ASL NM_000048.3(ASL): c.1360C> T (p.Gln454Ter) single nucleotide variant Pathogenic rs869312994 GRCh38 Chromosome 7, 66092877: 66092877
24 ASL NM_000048.3(ASL): c.524+2T> G single nucleotide variant Pathogenic rs869312976 GRCh38 Chromosome 7, 66086664: 66086664
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 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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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