ARGINSA
MCID: ARG002
MIFTS: 61

Argininosuccinic Aciduria (ARGINSA)

Categories: Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Argininosuccinic Aciduria

MalaCards integrated aliases for Argininosuccinic Aciduria:

Name: Argininosuccinic Aciduria 56 12 74 24 52 25 58 73 36 13 43 15 71
Argininosuccinate Lyase Deficiency 56 12 24 52 25 29 54 6
Argininosuccinic Acid Lyase Deficiency 56 24 52 58 73
Asl Deficiency 56 52 25 58 73
Argininosuccinase Deficiency 56 58 73
Arginosuccinase Deficiency 12 25
Argininosuccinic Acidemia 12 25
Argininosuccinicaciduria 52 25
Asa Deficiency 52 58
Asauria 25 73
Inborn Error of Urea Synthesis, Arginino Succinic Type 52
Urea Cycle Disorder, Arginino Succinase Type 52
Deficiency of Argininosuccinate Lyase 12
Argininosuccinyl-Coa Lyase Deficiency 25
Argininosuccinatelyase Deficiency 58
Arginino Succinase Deficiency 52
Argininosuccinate Acidemia 52
Aciduria, Argininosuccinic 39
Aciduria Argininosuccinic 54
Citrullinemia 71
Arginsa 73
Asld 24
Asa 25

Characteristics:

Orphanet epidemiological data:

58
argininosuccinic aciduria
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Worldwide),1-9/1000000 (Finland),1-9/100000 (Europe); Age of onset: All ages,Neonatal; Age of death: any age,infantile;

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

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


Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:14755
OMIM 56 207900
KEGG 36 H01028
NCIt 49 C84569
SNOMED-CT 67 41013004
MESH via Orphanet 44 D056807
ICD10 via Orphanet 33 E72.2
UMLS via Orphanet 72 C0268547
Orphanet 58 ORPHA23
MedGen 41 C0268547
UMLS 71 C0175683 C0268547

Summaries for Argininosuccinic Aciduria

NIH Rare Diseases : 52 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 phenylketonuria, and has symptoms including seizures, vomiting and ataxia. 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 Phenylacetic acid 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 a poorly controlled breathing rate or body temperature. Some babies with this disorder experience seizures or unusual body movements, or go into a coma. Complications from argininosuccinic aciduria may include developmental delay and intellectual disability. Progressive liver damage, high blood pressure (hypertension), skin lesions, and brittle hair may also be seen. Occasionally, individuals may inherit a mild form of the disorder. These individuals can have an accumulation of ammonia in the bloodstream only during periods of illness or other stress, or mild intellectual disability or learning disabilities with no evidence of elevated ammonia levels.

OMIM : 56 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 : 36 Arginosuccinicaciduria (ARGINSA) is an autosomal recessive disorder of the urea cycle that is caused by defects in argininosuccinate lyase. ARGINSA is characterized by mental and physical retardation, liver enlargement, skin lesions, dry and brittle hair showing trichorrhexis nodosa microscopically and fluorescing red, convulsions, and episodic unconsciousness.

UniProtKB/Swiss-Prot : 73 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 : 74 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 247)
# Related Disease Score Top Affiliating Genes
1 carbamoyl phosphate synthetase i deficiency, hyperammonemia due to 31.4 SLC25A15 OTC NAGS CPS1 ASS1 ASL
2 phenylketonuria 30.3 OTC ASS1 ADSL
3 reye syndrome 30.2 OTC ASS1
4 carbonic anhydrase va deficiency, hyperammonemia due to 30.1 SLC25A15 SLC25A13 OTC NAGS CPS1 ASS1
5 homocystinuria 30.0 OTC MMD ADSL
6 gyrate atrophy of choroid and retina 30.0 SLC25A15 GAMT
7 maple syrup urine disease 29.1 OTC NAGS MMD HADH ASL
8 orotic aciduria 28.7 SLC7A7 OTC NAGS CPS1 ASS1 ASL
9 ornithine transcarbamylase deficiency, hyperammonemia due to 28.5 SLC25A15 SLC25A13 OTC NAGS MMD CPS1
10 citrullinemia, classic 27.9 SLC7A7 SLC25A15 SLC25A13 OTC NAGS MMD
11 argininemia 27.4 SLC7A7 SLC25A15 SLC25A13 OTC NAGS GAMT
12 urea cycle disorder 27.0 SLC7A7 SLC25A15 SLC25A13 OTC NAGS MMD
13 patent foramen ovale 11.5
14 transient cerebral ischemia 11.5
15 asthma, nasal polyps, and aspirin intolerance 11.5
16 branchiootic syndrome 1 11.2
17 aspirin allergy 11.2
18 atrial heart septal defect 11.2
19 mini stroke 11.2
20 inflammatory spondylopathy 10.7
21 spondylitis 10.7
22 spondyloarthropathy 1 10.7
23 ataxia and polyneuropathy, adult-onset 10.4
24 autosomal recessive disease 10.4
25 back pain 10.4
26 uveitis 10.4
27 ocular motor apraxia 10.3
28 postpartum psychosis 10.3 OTC ASS1
29 urticaria 10.3
30 learning disability 10.3
31 allergic hypersensitivity disease 10.3
32 enthesopathy 10.3
33 seizure disorder 10.2
34 fumarase deficiency 10.2 ASL ADSL
35 ige responsiveness, atopic 10.2
36 peripheral vascular disease 10.2
37 cardiac arrest 10.2
38 angioedema 10.2
39 hypogonadism 10.2
40 acyl-coa dehydrogenase deficiency 10.2 OTC ASS1
41 congenital hypothyroidism 10.2
42 hypothyroidism 10.2
43 ornithinemia 10.2
44 ischemia 10.2
45 histidine metabolism disease 10.2 DMGDH ADSL
46 attention deficit-hyperactivity disorder 10.1
47 fatty liver disease, nonalcoholic 1 10.1
48 alacrima, achalasia, and mental retardation syndrome 10.1
49 alcohol use disorder 10.1
50 hepatitis 10.1

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



Diseases related to Argininosuccinic Aciduria

Symptoms & Phenotypes for Argininosuccinic Aciduria

Human phenotypes related to Argininosuccinic Aciduria:

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

Symptoms via clinical synopsis from OMIM:

56
Abdomen Liver:
hepatomegaly
hepatic fibrosis
elevated serum glutamic oxaloacetic transaminase (sgot)
elevated serum glutamic pyruvic transaminase (sgpt)

Growth Other:
failure to thrive

Neurologic Behavioral Psychiatric Manifestations:
irritability
lethargy

Skin Nails Hair Hair:
trichorrhexis nodosa
dry brittle hair

Neurologic Central Nervous System:
seizures
ataxia
coma
cerebral edema
developmental delay
more
Abdomen Gastrointestinal:
vomiting
protein avoidance
poor feeding

Laboratory Abnormalities:
hyperammonemia
orotic aciduria
elevated serum glutamic oxaloacetic transaminase (sgot)
elevated serum glutamic pyruvic transaminase (sgpt)
high plasma citrulline (100-300 micromolar)
more
Metabolic Features:
episodic ammonia intoxication
respiratory alkalosis
arginine deficiency

Clinical features from OMIM:

207900

UMLS symptoms related to Argininosuccinic Aciduria:


seizures, vomiting, ataxia, lethargy

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

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

MGI Mouse Phenotypes related to Argininosuccinic Aciduria:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.91 ASL ASS1 DMGDH GAMT MMD NAGS
2 homeostasis/metabolism MP:0005376 9.85 ASL ASS1 CPS1 DMGDH GAMT HADH
3 mortality/aging MP:0010768 9.65 ADSL ASL ASS1 CPS1 GAMT NAGS
4 renal/urinary system MP:0005367 9.17 ASL GAMT HADH OTC SLC25A13 SLC25A15

Drugs & Therapeutics for Argininosuccinic Aciduria

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

(show all 23)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nitric Oxide Approved Phase 2 10102-43-9 145068
2
Phenylacetic acid Approved Phase 2 103-82-2 999
3
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
4
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
5 4-phenylbutyric acid Phase 2
6 Anti-Infective Agents Phase 2
7 Antifungal Agents Phase 2
8 Sodium Benzoate Phase 2
9 Antimetabolites Phase 2
10
Arginine Investigational, Nutraceutical Phase 2 74-79-3 6322
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 Respiratory System Agents
15 Antioxidants
16 Anti-Asthmatic Agents
17 Endothelium-Dependent Relaxing Factors
18 Vasodilator Agents
19 Bronchodilator Agents
20 Protective Agents
21 Neurotransmitter Agents
22 glutamine
23 Vaccines

Interventional clinical trials:

(show all 16)
# 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 Nitric Oxide Supplementation as a Therapeutic Intervention in Argininosuccinic Aciduria Completed NCT02252770
8 RDCRN 5110, Nitric Oxide Flux and Ureagenesis in Argininosuccinate Synthetase Deficiency (ASSD)(Citrullinemia I)(Version 24Feb12, NIH Approved 4/5/2012) Completed NCT01610089
9 Study of Non Major Microcirculation During Extracorporeal Circulation : Relation Between Endothelial Dysfunction and Digestive Completed NCT01389947
10 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
11 Effect of Nitric Oxide (NO) Supplementation on Neurocognitive Measures in Argininosuccinate Lyase Deficiency (ASLD) Recruiting NCT03064048
12 Neuroimaging and Neuropsychological Outcomes in Urea Cycle Disorders Recruiting NCT02935283
13 Prospective Cross-Sectional Non-invasive Assessment of Chronic Liver Disease in Urea Cycle Disorders Recruiting NCT03721367
14 Protocol for a Randomized Pilot Study (FIRST STEPS): Implementation of the Incredible Years-ASLD® Program in Spanish Preschoolers With Autism and Premature Children With Communication or Socialization Difficulties Active, not recruiting NCT04358484
15 Citrullinemia for the Prediction of Enteral Nutrition Tolerance Among Critically Ill Patients Not yet recruiting NCT03967795 N2-L-Alanyl-L-Glutamine (Substance)
16 The NIH UNI Study: Urea Cycle Disorders, Nutrition and Immunity Terminated NCT01421888

Search NIH Clinical Center for Argininosuccinic Aciduria

Cochrane evidence based reviews: argininosuccinic aciduria

Genetic Tests for Argininosuccinic Aciduria

Genetic tests related to Argininosuccinic Aciduria:

# Genetic test Affiliating Genes
1 Argininosuccinate Lyase Deficiency 29 ASL

Anatomical Context for Argininosuccinic Aciduria

MalaCards organs/tissues related to Argininosuccinic Aciduria:

40
Liver, Skin, Brain, Endothelial, Bone Marrow, Bone, Testes

Publications for Argininosuccinic Aciduria

Articles related to Argininosuccinic Aciduria:

(show top 50) (show all 316)
# 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. 6 56 24 54 61
12408190 2002
2
Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene. 54 6 61 56
12384776 2002
3
Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene. 61 56 24 54
17326097 2007
4
Dietary management reverses grooving and abnormal polarization of hair shafts in argininosuccinase deficiency. 61 56 54 24
1897577 1991
5
Argininosuccinate Lyase Deficiency Causes an Endothelial-Dependent Form of Hypertension. 56 61 24
30075114 2018
6
Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduria. 24 61 56
22541557 2012
7
Molecular analysis of human argininosuccinate lyase: mutant characterization and alternative splicing of the coding region. 6 56
2263616 1990
8
A familial study of a human enzyme defect, argininosuccinic aciduria. 56 24 61
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. 24 56
1594374 1992
10
Argininosuccinic aciduria: from a monogenic to a complex disorder. 61 56
23306800 2013
11
Argininosuccinate Lyase Deficiency 6 61
21290785 2011
12
Long-term outcome of patients with argininosuccinate lyase deficiency diagnosed by newborn screening in Austria. 24 54 61
20236848 2010
13
Argininosuccinate lyase deficiency: longterm outcome of 13 patients detected by newborn screening. 24 54 61
19635676 2009
14
Functional complementation in yeast allows molecular characterization of missense argininosuccinate lyase mutations. 24 54 61
19703900 2009
15
Cross-sectional multicenter study of patients with urea cycle disorders in the United States. 24 61 54
18562231 2008
16
Identification of a common novel mutation in Saudi patients with argininosuccinic aciduria. 24 54 61
16435180 2005
17
Progressive liver fibrosis in late-onset argininosuccinate lyase deficiency. 54 61 24
12370774 2002
18
Intragenic complementation and the structure and function of argininosuccinate lyase. 61 54 24
11092456 2000
19
Fatal hyperammonaemia in argininosuccinic aciduria following enflurane anaesthesia. 61 56
9504797 1998
20
Prenatal diagnosis of the urea cycle diseases: a survey of the European cases. 24 54 61
7717428 1995
21
Transabdominal chorionic villus sampling in a multiple pregnancy at risk of argininosuccinic aciduria: a case report. 56 61
2389802 1990
22
Argininosuccinate lyase deficiency: evidence for heterogeneous structural gene mutations by immunoblotting. 56 61
3752080 1986
23
Interallelic complementation in an inborn error of metabolism: genetic heterogeneity in argininosuccinate lyase deficiency. 61 56
6589607 1984
24
Studies on complementation in argininosuccinate synthetase and argininosuccinate lyase deficiencies in human fibroblasts. 56 61
7250970 1981
25
Neonatal argininosuccinic aciduria-survival after early diagnosis and dietary management. 56 61
7359236 1980
26
Argininosuccinic aciduria: prenatal studies in a family at risk. 56 61
484552 1979
27
Argininosuccinic aciduria: metabolic studies and effects of treatment with keto-analogues of essential amino acids. 56 61
668730 1978
28
Enzymologic and metabolic studies in two families affected by argininosuccinic aciduria. 56 61
652408 1978
29
Lethal neonatal argininosuccinate lyase deficiency in four children from one sibship. 56 61
1017984 1976
30
Neonatal argininosuccinic aciduria with normal brain and kidney but absent liver argininosuccinate lyase activity. 61 56
174426 1976
31
Antenatal diagnosis of argininosuccinic aciduria. 61 56
4765206 1973
32
Argininosuccinic aciduria. Case report with neuropathological findings. 61 56
5422414 1970
33
Argininosuccinic aciduria. Report of two new cases and demonstration of intermittent elevation of blood ammonia. 56 61
6016480 1967
34
Argininosuccinic aciduria, an inborn error of amino acid metabolism. 61 56
14464548 1961
35
Expanding the phenotype in argininosuccinic aciduria: need for new therapies. 24 61
28251416 2017
36
A longitudinal study of urea cycle disorders. 56
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. 61 24
23040521 2012
38
Optimizing therapy for argininosuccinic aciduria. 24 61
22841516 2012
39
Inherited metabolic disorders and stroke part 2: homocystinuria, organic acidurias, and urea cycle disorders. 56
20142522 2010
40
Prenatal diagnosis of citrullinemia and argininosuccinic aciduria: evidence for a transmission ratio distortion in citrullinemia. 61 24
16475226 2006
41
Urea Cycle Disorders Overview 6
20301396 2003
42
Liver transplantation in urea cycle disorders. 61 24
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. 61 24
7682674 1993
44
Arginine therapy of argininosuccinase deficiency. 56
84150 1979
45
Argininosuccinic aciduria: investigation of an affected family. 61 24
12119962 1974
46
Deficient argininosuccinase activity in brain in argininosuccinicaciduria. 56
4175179 1968
47
Arginosuccine aciduria. 56
6015896 1967
48
A disease, probably hereditary characterised by severe mental deficiency and a constant gross abnormality of aminoacid metabolism. 56
13503250 1958
49
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype. 24
25875216 2015
50
Population screening in a Druze community: the challenge and the reward. 54 61
19092443 2008

Variations for Argininosuccinic Aciduria

ClinVar genetic disease variations for Argininosuccinic Aciduria:

6 (show top 50) (show all 189) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ASL NM_000048.4(ASL):c.637C>T (p.Arg213Ter)SNV Pathogenic 426366 rs761651320 7:65552355-65552355 7:66087368-66087368
2 ASL NM_000048.4(ASL):c.94_100del (p.Arg32fs)deletion Pathogenic 459923 rs1554326263 7:65546870-65546876 7:66081883-66081889
3 ASL NM_000048.4(ASL):c.1045_1062+7deldeletion Pathogenic 529426 rs1329070853 7:65554664-65554688 7:66089677-66089701
4 ASL NM_000048.4(ASL):c.447-1G>ASNV Pathogenic 552765 rs778254333 7:65551571-65551571 7:66086584-66086584
5 ASL NM_000048.4(ASL):c.765dup (p.Met256fs)duplication Pathogenic 573845 rs1562742141 7:65553838-65553839 7:66088851-66088852
6 ASL NM_000048.4(ASL):c.376C>T (p.Arg126Trp)SNV Pathogenic 643476 7:65548091-65548091 7:66083104-66083104
7 ASL NM_000048.4(ASL):c.1366C>T (p.Arg456Trp)SNV Pathogenic 660049 7:65557870-65557870 7:66092883-66092883
8 ASL NC_000007.14:g.(?_66076062)_(66092932_?)deldeletion Pathogenic 652397 7:65541049-65557919 7:66076062-66092932
9 ASL NC_000007.14:g.(?_66091986)_(66092932_?)deldeletion Pathogenic 656807 7:65556973-65557919 7:66091986-66092932
10 ASL NM_000048.4(ASL):c.979del (p.Glu327Argfs)deletion Pathogenic 649877 7:65554598-65554598 7:66089611-66089611
11 ASL NC_000007.14:g.(?_65960877)_(66092932_?)deldeletion Pathogenic 833035 7:65425864-65557919
12 ASL NC_000007.14:g.(?_66076072)_(66092922_?)deldeletion Pathogenic 833451 7:65541059-65557909
13 ASL NC_000007.14:g.(?_66081783)_(66083194_?)deldeletion Pathogenic 830913 7:65546770-65548181
14 ASL NM_000048.4(ASL):c.451_452dup (p.Asp152fs)duplication Pathogenic 835209 7:65551575-65551576 7:66086588-66086589
15 ASL NM_000048.4(ASL):c.283C>T (p.Arg95Cys)SNV Pathogenic 2398 rs28940585 7:65547430-65547430 7:66082443-66082443
16 ASL NM_000048.4(ASL):c.857A>G (p.Gln286Arg)SNV Pathogenic 2399 rs28941472 7:65554101-65554101 7:66089114-66089114
17 ASL ASL, IVS5DS, G-A, +1SNV Pathogenic 2400
18 ASL NM_000048.4(ASL):c.532G>A (p.Val178Met)SNV Pathogenic 2402 rs28941473 7:65551738-65551738 7:66086751-66086751
19 ASL NM_000048.4(ASL):c.1060C>T (p.Gln354Ter)SNV Pathogenic 21253 rs367543005 7:65554680-65554680 7:66089693-66089693
20 ASL NM_000048.4(ASL):c.346C>T (p.Gln116Ter)SNV Pathogenic 21254 rs367543006 7:65547921-65547921 7:66082934-66082934
21 ASL NM_000048.4(ASL):c.446+1G>ASNV Pathogenic 92361 rs142637046 7:65548162-65548162 7:66083175-66083175
22 ASL NM_000048.4(ASL):c.544C>T (p.Arg182Ter)SNV Pathogenic 92362 rs398123126 7:65551750-65551750 7:66086763-66086763
23 ASL NM_000048.4(ASL):c.257A>C (p.Glu86Ala)SNV Pathogenic 224971 rs869312986 7:65547404-65547404 7:66082417-66082417
24 ASL NM_000048.3(ASL):c.292delG (p.Glu98Serfs)deletion Pathogenic 224972 rs869312987 7:65547866-65547866 7:66082879-66082879
25 ASL NM_000048.4(ASL):c.461T>C (p.Leu154Pro)SNV Pathogenic 224973 rs869312988 7:65551586-65551586 7:66086599-66086599
26 ASL NM_000048.4(ASL):c.575_580dup (p.Lys192_Arg193dup)duplication Pathogenic 224974 rs869312989 7:65551775-65551776 7:66086788-66086789
27 ASL NM_000048.4(ASL):c.762C>A (p.Ser254Arg)SNV Pathogenic 224976 rs869312991 7:65553837-65553837 7:66088850-66088850
28 ASL NM_000048.4(ASL):c.889C>T (p.Arg297Trp)SNV Pathogenic 224977 rs869312992 7:65554133-65554133 7:66089146-66089146
29 ASL NM_000048.4(ASL):c.1122dup (p.Tyr375fs)duplication Pathogenic 224978 rs869312993 7:65557050-65557051 7:66092063-66092064
30 ASL NM_000048.4(ASL):c.1360C>T (p.Gln454Ter)SNV Pathogenic 224979 rs869312994 7:65557864-65557864 7:66092877-66092877
31 ASL NM_000048.4(ASL):c.524+2T>GSNV Pathogenic 224981 rs869312976 7:65551651-65551651 7:66086664-66086664
32 ASL NM_000048.4(ASL):c.649C>T (p.Arg217Ter)SNV Pathogenic 203615 rs369879957 7:65552367-65552367 7:66087380-66087380
33 ASL NM_000048.4(ASL):c.1045_1057del (p.Val349fs)deletion Pathogenic/Likely pathogenic 203629 rs796051933 7:65554663-65554675 7:66089676-66089688
34 ASL NM_000048.4(ASL):c.578G>A (p.Arg193Gln)SNV Pathogenic/Likely pathogenic 372306 rs373697663 7:65551784-65551784 7:66086797-66086797
35 ASL NM_000048.4(ASL):c.175G>A (p.Glu59Lys)SNV Pathogenic/Likely pathogenic 224970 rs869312985 7:65546952-65546952 7:66081965-66081965
36 ASL NM_000048.4(ASL):c.545G>A (p.Arg182Gln)SNV Pathogenic/Likely pathogenic 203613 rs751590073 7:65551751-65551751 7:66086764-66086764
37 ASL NM_000048.4(ASL):c.602+1G>ASNV Pathogenic/Likely pathogenic 92365 rs398123127 7:65551809-65551809 7:66086822-66086822
38 ASL NM_000048.4(ASL):c.35G>A (p.Arg12Gln)SNV Pathogenic/Likely pathogenic 92360 rs145138923 7:65546812-65546812 7:66081825-66081825
39 ASL NM_000048.4(ASL):c.1135C>T (p.Arg379Cys)SNV Pathogenic/Likely pathogenic 2403 rs28940287 7:65557065-65557065 7:66092078-66092078
40 ASL NM_000048.4(ASL):c.1153C>T (p.Arg385Cys)SNV Pathogenic/Likely pathogenic 2401 rs28940286 7:65557553-65557553 7:66092566-66092566
41 ASL NM_000048.4(ASL):c.1255_1256del (p.Leu419fs)deletion Pathogenic/Likely pathogenic 555167 rs757109353 7:65557759-65557760 7:66092772-66092773
42 ASL NM_000048.4(ASL):c.292G>T (p.Glu98Ter)SNV Pathogenic/Likely pathogenic 553428 rs770375565 7:65547867-65547867 7:66082880-66082880
43 ASL NM_000048.4(ASL):c.337C>T (p.Arg113Trp)SNV Pathogenic/Likely pathogenic 553111 rs767543051 7:65547912-65547912 7:66082925-66082925
44 ASL NM_000048.4(ASL):c.299T>C (p.Ile100Thr)SNV Pathogenic/Likely pathogenic 495379 rs202142867 7:65547874-65547874 7:66082887-66082887
45 ASL NM_000048.4(ASL):c.111_133del (p.Asp38fs)deletion Likely pathogenic 555199 rs1554326267 7:65546887-65546909 7:66081900-66081922
46 ASL NM_000048.4(ASL):c.260A>G (p.Asp87Gly)SNV Likely pathogenic 557253 rs752100894 7:65547407-65547407 7:66082420-66082420
47 ASL NM_000048.4(ASL):c.446+2T>CSNV Likely pathogenic 553540 rs1268519003 7:65548163-65548163 7:66083176-66083176
48 ASL NM_000048.4(ASL):c.631_647del (p.Val211fs)deletion Likely pathogenic 552393 rs1554327181 7:65552348-65552364 7:66087361-66087377
49 ASL NM_000048.4(ASL):c.973_976del (p.Leu325fs)deletion Likely pathogenic 557445 rs763407938 7:65554315-65554318 7:66089328-66089331
50 ASL NM_000048.4(ASL):c.283_285delinsGGCG (p.Arg95fs)indel Likely pathogenic 555261 rs1554326365 7:65547430-65547432 7:66082443-66082445

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

73 (show top 50) (show all 59)
# Symbol AA change Variation ID SNP ID
1 ASL p.Arg95Cys VAR_000676 rs28940585
2 ASL p.Arg111Trp VAR_000677 rs138310841
3 ASL p.Arg193Gln VAR_000678 rs373697663
4 ASL p.Gln286Arg VAR_000679 rs28941472
5 ASL p.Val178Met VAR_017572 rs28941473
6 ASL p.Arg379Cys VAR_017573 rs28940287
7 ASL p.Arg385Cys VAR_017574 rs28940286
8 ASL p.Asp31Asn VAR_043106 rs754995756
9 ASL p.Arg113Gln VAR_043107 rs752783461
10 ASL p.Arg186Gln VAR_043108 rs752397242
11 ASL p.Arg236Trp VAR_043109 rs761268464
12 ASL p.Val335Leu VAR_043110
13 ASL p.Met382Arg VAR_043111
14 ASL p.Arg456Trp VAR_043112 rs759396688
15 ASL p.Val70Ala VAR_072186 rs102773942
16 ASL p.Arg94Cys VAR_072187 rs374304304
17 ASL p.Arg94His VAR_072188 rs777437569
18 ASL p.Arg95His VAR_072189 rs150244667
19 ASL p.Ala104Val VAR_072190
20 ASL p.Asp120Glu VAR_072191
21 ASL p.Leu121His VAR_072192
22 ASL p.Arg126Trp VAR_072193 rs201962738
23 ASL p.Arg146Trp VAR_072194 rs199938613
24 ASL p.Pro156Arg VAR_072195 rs769017508
25 ASL p.His160Asn VAR_072196
26 ASL p.Pro166His VAR_072197
27 ASL p.Arg168His VAR_072198 rs727503811
28 ASL p.Ser170Asn VAR_072199 rs118065088
29 ASL p.Leu180Arg VAR_072200 rs105714116
30 ASL p.Arg182Gln VAR_072201 rs751590073
31 ASL p.Arg191Trp VAR_072202 rs143508372
32 ASL p.Arg193Trp VAR_072203 rs142802950
33 ASL p.Ala205Val VAR_072204 rs796051925
34 ASL p.Arg213Gln VAR_072205 rs144958963
35 ASL p.Leu227Pro VAR_072206
36 ASL p.Ser229Arg VAR_072207
37 ASL p.Ser229Thr VAR_072208 rs155432727
38 ASL p.Asp231Glu VAR_072209
39 ASL p.Asp237Asn VAR_072210 rs552951774
40 ASL p.Met256Thr VAR_072211 rs149057077
41 ASL p.Leu262Pro VAR_072212 rs155432758
42 ASL p.Leu295Pro VAR_072213 rs136933787
43 ASL p.Gly301Arg VAR_072214 rs116141245
44 ASL p.Arg306Trp VAR_072215 rs868834862
45 ASL p.Asp324Ala VAR_072216
46 ASL p.Gln326Leu VAR_072217
47 ASL p.Leu343Phe VAR_072218
48 ASL p.Leu343Pro VAR_072219
49 ASL p.Met368Val VAR_072220 rs155432820
50 ASL p.Lys380Glu VAR_072221

Expression for Argininosuccinic Aciduria

Search GEO for disease gene expression data for Argininosuccinic Aciduria.

Pathways for Argininosuccinic Aciduria

Pathways related to Argininosuccinic Aciduria according to KEGG:

36
# Name Kegg Source Accession
1 Arginine biosynthesis hsa00220
2 Alanine, aspartate and glutamate metabolism hsa00250

Pathways related to Argininosuccinic Aciduria according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.76 SLC25A15 SLC25A13 OTC NAGS HADH GAMT
2
Show member pathways
13.38 SLC25A15 OTC NAGS GAMT CPS1 ASS1
3
Show member pathways
11.98 OTC NAGS CPS1 ASS1 ASL
4 11.58 OTC HADH CPS1 ASS1
5 11.01 CPS1 ASS1 ASL ADSL
6
Show member pathways
10.77 OTC NAGS CPS1 ASS1 ASL
7
Show member pathways
10.52 ASS1 ASL
8
Show member pathways
10.48 OTC NAGS GAMT CPS1 ASS1 ASL

GO Terms for Argininosuccinic Aciduria

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 9.46 SLC25A15 SLC25A13 OTC CPS1
2 mitochondrial matrix GO:0005759 9.35 OTC NAGS HADH DMGDH CPS1
3 mitochondrion GO:0005739 9.23 SLC25A15 SLC25A13 OTC NAGS HADH DMGDH

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.8 OTC HADH CPS1 ASS1
2 liver development GO:0001889 9.65 OTC CPS1 ASS1
3 cellular amino acid biosynthetic process GO:0008652 9.61 OTC ASS1 ASL
4 response to starvation GO:0042594 9.57 CPS1 ADSL
5 response to amino acid GO:0043200 9.56 CPS1 ASS1
6 response to steroid hormone GO:0048545 9.55 CPS1 ASS1
7 cellular response to glucagon stimulus GO:0071377 9.54 CPS1 ASS1
8 response to growth hormone GO:0060416 9.52 CPS1 ASS1
9 response to amine GO:0014075 9.51 CPS1 ASS1
10 response to zinc ion GO:0010043 9.5 OTC CPS1 ASS1
11 citrulline biosynthetic process GO:0019240 9.46 OTC CPS1
12 cellular response to oleic acid GO:0071400 9.4 CPS1 ASS1
13 arginine biosynthetic process via ornithine GO:0042450 9.37 OTC ASL
14 midgut development GO:0007494 9.33 OTC CPS1 ASS1
15 anion homeostasis GO:0055081 9.26 OTC CPS1
16 arginine biosynthetic process GO:0006526 9.26 OTC NAGS ASS1 ASL
17 urea cycle GO:0000050 9.1 SLC25A15 OTC NAGS CPS1 ASS1 ASL

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

# Name GO ID Score Top Affiliating Genes
1 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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