MCID: ARG002
MIFTS: 57

Argininosuccinic Aciduria malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Argininosuccinic Aciduria

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Sources:
50OMIM, 11Disease Ontology, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 12diseasecard, 37MeSH, 66UMLS, 22GeneReviews, 48Novoseek, 25GTR, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Argininosuccinic Aciduria:

Name: Argininosuccinic Aciduria 50 11 46 23 24 13 52 68 12 37 66
Argininosuccinate Lyase Deficiency 11 22 46 23 24 48
Asl Deficiency 22 46 23 24 52 68
Argininosuccinic Acid Lyase Deficiency 22 46 23 52 68
Deficiency of Argininosuccinate Lyase 11 25
Argininosuccinase Deficiency 52 68
Arginosuccinase Deficiency 11 24
Argininosuccinic Acidemia 11 24
Argininosuccinicaciduria 46 24
Asa Deficiency 46 52
Asauria 24 68
 
Asa 23 24
Inborn Error of Urea Synthesis, Arginino Succinic Type 46
Urea Cycle Disorder, Arginino Succinase Type 46
Argininosuccinyl-Coa Lyase Deficiency 24
Argininosuccinatelyase Deficiency 52
Arginino Succinase Deficiency 46
Argininosuccinate Acidemia 46
Aciduria Argininosuccinic 48
Argininosuccinate Lyase 12
Citrullinemia 66
Arginsa 68

Characteristics:

Orphanet epidemiological data:

52
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:

62
argininosuccinic aciduria:
Inheritance: autosomal recessive inheritance
Onset and clinical course: neonatal onset


Classifications:



External Ids:

OMIM50 207900
Disease Ontology11 DOID:14755
NCIt43 C84569
Orphanet52 ORPHA23
SNOMED-CT60 124630007, 41013004
ICD10 via Orphanet29 E72.2
MESH via Orphanet38 D056807
UMLS via Orphanet67 C0268547
MedGen35 C0268547

Summaries for Argininosuccinic Aciduria

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NIH Rare Diseases:46 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 orotic aciduria and branchiootic syndrome 1, and has symptoms including aminoaciduria, hyperammonemia and incoordination. An important gene associated with Argininosuccinic Aciduria is ASL (Argininosuccinate Lyase), and among its related pathways are Alanine and aspartate metabolism and Alanine, aspartate and glutamate metabolism. Affiliated tissues include liver, skin and testes, and related mouse phenotype integument.

Disease Ontology:11 An amino acid metabolic disorder that involves the accumulation of argininosuccinic acid (asa) in the blood and urine.

UniProtKB/Swiss-Prot:68 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:24 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:50 Argininosuccinic aciduria is an autosomal recessive disorder of the urea cycle. Urea cycle disorders are characterized... (207900) more...

Wikipedia:69 Argininosuccinic aciduria, also called argininosuccinic acidemia, is an inherited disorder that causes... more...

GeneReviews summary for NBK51784

Related Diseases for Argininosuccinic Aciduria

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



Diseases related to argininosuccinic aciduria

Symptoms for Argininosuccinic Aciduria

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Symptoms by clinical synopsis from OMIM:

207900

Clinical features from OMIM:

207900

Symptoms:

 52 (show all 11)
  • intellectual disability
  • ataxia
  • hyperammonemia
  • eeg abnormality
  • hyperglutaminemia
  • oroticaciduria
  • aminoaciduria
  • short stature
  • hypoargininemia
  • trichorrhexis nodosa
  • abnormal hair quantity

HPO human phenotypes related to Argininosuccinic Aciduria:

(show all 30)
id Description Frequency HPO Source Accession
1 aminoaciduria hallmark (90%) HP:0003355
2 hyperammonemia typical (50%) HP:0001987
3 incoordination typical (50%) HP:0002311
4 eeg abnormality typical (50%) HP:0002353
5 short stature typical (50%) HP:0004322
6 cognitive impairment typical (50%) HP:0100543
7 abnormal hair quantity occasional (7.5%) HP:0011362
8 irritability HP:0000737
9 intellectual disability HP:0001249
10 seizures HP:0001250
11 ataxia HP:0001251
12 lethargy HP:0001254
13 coma HP:0001259
14 global developmental delay HP:0001263
15 hepatic fibrosis HP:0001395
16 failure to thrive HP:0001508
17 respiratory alkalosis HP:0001950
18 episodic ammonia intoxication HP:0001951
19 hyperammonemia HP:0001987
20 vomiting HP:0002013
21 protein avoidance HP:0002038
22 cerebral edema HP:0002181
23 hepatomegaly HP:0002240
24 hyperglutaminemia HP:0003217
25 oroticaciduria HP:0003218
26 aminoaciduria HP:0003355
27 hypoargininemia HP:0005961
28 feeding difficulties in infancy HP:0008872
29 trichorrhexis nodosa HP:0009886
30 dry hair HP:0011359

UMLS symptoms related to Argininosuccinic Aciduria:


ataxia, hepatomegaly, lethargy, seizures, vomiting

Drugs & Therapeutics for Argininosuccinic Aciduria

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
14-PHENYLBUTYRIC ACIDPhase 248
2
Nitric OxidePhase 258510102-43-9145068
Synonyms:
(.)NO
(NO)(.)
10102-43-9
14332-28-6
295566_ALDRICH
51005-20-0
51005-21-1
53851-19-7
90452-29-2
AC1L1ADQ
AC1L3QHF
AC1Q6QZ0
AR-1K7463
Bioxyde d'azote
Bioxyde d'azote [French]
C00533
CCRIS 4319
CHEMBL1200689
CHEMBL1234765
CID145068
CID945
D00074
D009569
DB00435
EDRF
EINECS 233-271-0
Endogenous Nitrate Vasodilator
Endothelium-Derived Nitric Oxide
HNO
HSDB 1246
INOmax
INOmax (TN)
LS-192158
LS-7547
MolPort-003-929-452
Mononitrogen monoxide
Monoxide, Mononitrogen
Monoxide, Nitrogen
Monoxido de nitrogeno
Monoxyde d'azote
NITRIC-OXIDE
NO
NO(.)
Nitrate Vasodilator, Endogenous
Nitric Oxide, Endothelium Derived
 
Nitric Oxide, Endothelium-Derived
Nitric oxide
Nitric oxide (JAN)
Nitric oxide 10% by volume or more
Nitric oxide trimer
Nitric oxide, compressed [UN1660] [Poison gas]
Nitric oxide, compressed [UN1660] [Poison gas]
Nitrogen monoxide
Nitrogen oxide
Nitrogen oxide (NO)
Nitrogen protoxide
Nitrosyl
Nitrosyl hydride
Nitrosyl hydride ((NO)H)
Nitrosyl radical
Nitroxide radical
Nitroxyl
OHM 11771
Oxide, Nitric
Oxido de nitrogeno(ii)
Oxido nitrico
Oxyde azotique
Oxyde nitrique
Oxyde nitrique [French]
RCRA waste no. P076
Stickmonoxyd
Stickmonoxyd [German]
Stickstoff(II)-oxid
Stickstoff(ii)-oxid
Stickstoffmonoxid
UN 1660
UN1660
UNII-31C4KY9ESH
Vasodilator, Endogenous Nitrate
[NO]
endothelium-derived relaxing factor
monoxido de nitrogeno
monoxyde d'azote
nitric oxide
nitrogen monooxide
nitrogen monoxide
nitrosyl
oxido de nitrogeno(II)
oxido nitrico
oxidonitrogen(.)
oxoazanyl
oxyde azotique
3
Acetohydroxamic AcidPhase 1, Phase 21546-88-31990
Synonyms:
00507_FLUKA
159034_ALDRICH
546-88-3
A0051
AC1L1COH
AC1Q1L7G
AHA
AI3-62232
AKOS000172340
Acetamide, N-hydroxy- (9CI)
Acethydroxamic acid
Acethydroxamsaeure
Acethydroxamsaeure [German]
Acethydroxamsaure
Acetic acid, oxime
Acetohydroxamate
Acetohydroxamic acid
Acetohydroxamic acid (USP/INN)
Acetohydroxamic acid [USAN:INN]
Acetohydroximic acid
Acetyl hydroxyamino
Acetylhydroxamic acid
Acide acetohydroxamique
Acide acetohydroxamique [French]
Acido acetohidroxamico
Acido acetohidroxamico [Spanish]
Acidum acetohydroxamicum
Acidum acetohydroxamicum [Latin]
BSPBio_001790
C06808
CCRIS 1730
CHEBI:27777
CHEBI:49029
CHEMBL734
CID1990
Cetohyroxamic acid
D00220
DB00551
DivK1c_000821
EINECS 208-913-8
HAE
HMS1920A07
HMS2091G07
 
HMS502J03
HSDB 3585
I08-0057
IDI1_000821
KBio1_000821
KBio2_000360
KBio2_002928
KBio2_005496
KBio3_001290
KBioGR_000556
KBioSS_000360
LS-13067
Lithostat
Lithostat (TN)
MLS001076662
Methylhydroxamic acid
MolPort-001-769-610
N-Acetyl hydroxyacetamide
N-Acetylhydroxylamine
N-Hydroxyacetamide
N-hydroxyacetimidic acid
N-hydroxyethanimidic acid
NCGC00094576-01
NCGC00094576-02
NCGC00094576-03
NINDS_000821
NSC 176136
NSC176136
NSC5073
Prestwick_38
S14-0751
SMR000499570
SPBio_000098
SPECTRUM1500103
Spectrum2_000109
Spectrum3_000285
Spectrum4_000138
Spectrum5_000812
Spectrum_000020
UNII-4RZ82L2GY5
WLN: QMV1
ZINC04658603
acetohydroxamic acid
cetohyroxamic acid
sJX`HLdmMAH`
4
ornithineNutraceuticalPhase 26770-26-86262
Synonyms:
(+)-S-Ornithine
(S)-2,5-Diaminopentanoate
(S)-2,5-Diaminopentanoic acid
(S)-2,5-diaminovaleric acid
(S)-Ornithine
(S)-a,D-Diaminovalerate
 
(S)-a,D-Diaminovaleric acid
(S)-alpha,delta-Diaminovaleric acid
(S)-ornithine
(S)-α,δ-diaminovaleric acid
5-Amino-L-Norvaline
L-(-)-Ornithine
L-Ornithine
5arginineNutraceuticalPhase 2393

Interventional clinical trials:

idNameStatusNCT IDPhase
1Arginine and Buphenyl in Patients With Argininosuccinic Aciduria (ASA), a Urea Cycle DisorderCompletedNCT00345605Phase 2
2Pilot Study For Hypothermia Treatment In Hyperammonemic Encephalopathy In Neonates And Very Young InfantsCompletedNCT01624311Phase 2
3Urease Inhibitor Drug Treatment for Urea Cycle DisordersNot yet recruitingNCT02670889Phase 1, Phase 2
4Nitric Oxide Supplementation in Argininosuccinic AciduriaRecruitingNCT02252770
5The NIH UNI Study: Urea Cycle Disorders, Nutrition and ImmunityTerminatedNCT01421888

Search NIH Clinical Center for Argininosuccinic Aciduria


Cochrane evidence based reviews: argininosuccinic aciduria

Genetic Tests for Argininosuccinic Aciduria

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Genetic tests related to Argininosuccinic Aciduria:

id Genetic test Affiliating Genes
1 Argininosuccinate Lyase Deficiency25 23 ASL
2 Argininosuccinic Aciduria23

Anatomical Context for Argininosuccinic Aciduria

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MalaCards organs/tissues related to Argininosuccinic Aciduria:

34
Liver, Skin, Testes, Brain, Kidney

Animal Models for Argininosuccinic Aciduria or affiliated genes

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MGI Mouse Phenotypes related to Argininosuccinic Aciduria:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.3ASL, ASS1, NAGS, OTC

Publications for Argininosuccinic Aciduria

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Articles related to Argininosuccinic Aciduria:

(show top 50)    (show all 91)
idTitleAuthorsYear
1
Quantitative amino acid analysis by liquid chromatography-tandem mass spectrometry: implications for the diagnosis of argininosuccinic aciduria. (25598409)
2015
2
Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria. (25778938)
2015
3
Argininosuccinic aciduria: from a monogenic to a complex disorder. (23306800)
2013
4
Understanding the role of argininosuccinate lyase transcript variants in the clinical and biochemical variability of the urea cycle disorder argininosuccinic aciduria. (24136197)
2013
5
Yeast complementation is sufficiently sensitive to detect the residual activity of ASL alleles associated with mild forms of argininosuccinic aciduria. (22231378)
2012
6
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
7
Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond. (21312326)
2011
8
Argininosuccinic aciduria: clinical and biochemical phenotype findings in Malaysian children. (21329179)
2010
9
Novel mutations underlying argininosuccinic aciduria in Saudi Arabia. (20298553)
2010
10
Experience with the treatment of argininosuccinic aciduria during pregnancy. (19585269)
2009
11
Living related liver transplant in a patient with argininosuccinic aciduria and cirrhosis: metabolic follow-up. (18367960)
2008
12
A mouse model of argininosuccinic aciduria: biochemical characterization. (12559843)
2003
13
Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families. (12408190)
2002
14
Fatal hyperammonaemia in argininosuccinic aciduria following enflurane anaesthesia. (9504797)
1998
15
Late onset argininosuccinic aciduria in a paranoid retardate. (1790264)
1991
16
Prenatal diagnosis of argininosuccinic aciduria by assay of argininosuccinate in amniotic fluid at the 12th week of gestation. (2333894)
1990
17
Transabdominal chorionic villus sampling in a multiple pregnancy at risk of argininosuccinic aciduria: a case report. (2389802)
1990
18
Argininosuccinic aciduria--an underdiagnosed cause of neonatal death? (2711176)
1989
19
Molecular basis of enzyme abnormalities in urea cycle disorders. With special reference to citrullinemia and argininosuccinic aciduria. (3440446)
1987
20
Diagnosis of argininosuccinic aciduria after valproic acid-induced hyperammonemia. (3106853)
1987
21
Argininosuccinic aciduria: long-term treatment with arginine. (3116334)
1987
22
Severe liver fibrosis in argininosuccinic aciduria. (3753845)
1986
23
Rapid detection of argininosuccinic aciduria and citrullinuria by fast atom bombardment and tandem mass spectrometry. (3698313)
1986
24
High-performance liquid chromatographic assay of argininosuccinate: its application in argininosuccinic aciduria and in normal man. (3088323)
1986
25
Absence of argininosuccinate lyase protein in the liver of two patients with argininosuccinic aciduria. (3757266)
1986
26
Argininosuccinic aciduria. A developmental and biochemical case study. (6886731)
1983
27
First case of argininosuccinic aciduria in Japan: clinical observations and treatment. (7164926)
1982
28
Guanidinosuccinic acid excretion in argininosuccinic aciduria. (7164917)
1982
29
Neonatal survival after early diagnosis and treatment of argininosuccinic aciduria. (7431187)
1980
30
Amino acid and enzyme studies of brain and other tissues in an infant with argininosuccinic aciduria. (7398094)
1980
31
Neonatal argininosuccinic aciduria-survival after early diagnosis and dietary management. (7359236)
1980
32
Prenatal diagnosis of argininosuccinic aciduria: effect of mycoplasma contamination on the indirect assay for argininosuccinate lyase. (7424915)
1980
33
Argininosuccinic aciduria: assignment of the argininosuccinate lyase gene to the pter to q22 region of human chromosome 7 by bioautography. (282632)
1978
34
Protein load in argininosuccinic aciduria: thoughts on its biochemical implications. (556398)
1978
35
Argininosuccinic aciduria: metabolic studies and effects of treatment with keto-analogues of essential amino acids. (668730)
1978
36
Treatment of argininosuccinic aciduria with keto analogues of essential amino acids. (707337)
1978
37
Letter: Survival of infant with argininosuccinic aciduria to 3 months of age. (1127512)
1975
38
Argininosuccinic aciduria: investigation of an affected family. (12119962)
1974
39
Argininosuccinic aciduria: antenatal investigations in an affected family. (4412079)
1974
40
Antenatal diagnosis of argininosuccinic aciduria. (4765206)
1973
41
Screening tests for argininosuccinic aciduria, orotic aciduria, and other inherited enzyme deficiencies using dried blood specimens. (4199795)
1972
42
The pathological findings in a case of argininosuccinic aciduria. (5173011)
1971
43
Argininosuccinic aciduria. Neonatal variant with rapid fatal course. (5365174)
1969
44
Argininosuccinic aciduria. Report of two new cases and demonstration of intermittent elevation of blood ammonia. (6016480)
1967
45
Urea cycle enzymes in the liver of a patient with argininosuccinic aciduria. (6028121)
1967
46
Aminogenic alopecia. Loss of hair associated with argininosuccinic aciduria. (4165309)
1965
47
ARGININOSUCCINIC ACIDURIA IN MONILETHRIX. (14187469)
1964
48
ARGININOSUCCINIC ACIDURIA. ARGININOSUCCINASE AND ARGINASE IN HUMAN BLOOD CELLS. (14162426)
1964
49
Argininosuccinic aciduria and maple syrup urine disease. (13885492)
1962
50
Argininosuccinic aciduria. A new form of mental deficiency due to metabolic causes. (13815969)
1959

Variations for Argininosuccinic Aciduria

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

68 (show all 59)
id Symbol AA change Variation ID SNP ID
1ASLp.Arg95CysVAR_000676rs28940585
2ASLp.Arg111TrpVAR_000677rs138310841
3ASLp.Arg193GlnVAR_000678rs373697663
4ASLp.Gln286ArgVAR_000679rs28941472
5ASLp.Val178MetVAR_017572rs28941473
6ASLp.Arg379CysVAR_017573rs28940287
7ASLp.Arg385CysVAR_017574rs28940286
8ASLp.Asp31AsnVAR_043106rs754995756
9ASLp.Arg113GlnVAR_043107rs752783461
10ASLp.Arg186GlnVAR_043108rs752397242
11ASLp.Arg236TrpVAR_043109rs761268464
12ASLp.Val335LeuVAR_043110
13ASLp.Met382ArgVAR_043111
14ASLp.Arg456TrpVAR_043112rs759396688
15ASLp.Val70AlaVAR_072186
16ASLp.Arg94CysVAR_072187rs374304304
17ASLp.Arg94HisVAR_072188
18ASLp.Arg95HisVAR_072189rs150244667
19ASLp.Ala104ValVAR_072190
20ASLp.Asp120GluVAR_072191
21ASLp.Leu121HisVAR_072192
22ASLp.Arg126TrpVAR_072193rs201962738
23ASLp.Arg146TrpVAR_072194rs199938613
24ASLp.Pro156ArgVAR_072195rs769017508
25ASLp.His160AsnVAR_072196
26ASLp.Pro166HisVAR_072197
27ASLp.Arg168HisVAR_072198rs727503811
28ASLp.Ser170AsnVAR_072199
29ASLp.Leu180ArgVAR_072200
30ASLp.Arg182GlnVAR_072201rs751590073
31ASLp.Arg191TrpVAR_072202rs143508372
32ASLp.Arg193TrpVAR_072203
33ASLp.Ala205ValVAR_072204rs796051925
34ASLp.Arg213GlnVAR_072205
35ASLp.Leu227ProVAR_072206
36ASLp.Ser229ArgVAR_072207
37ASLp.Ser229ThrVAR_072208
38ASLp.Asp231GluVAR_072209
39ASLp.Asp237AsnVAR_072210
40ASLp.Met256ThrVAR_072211rs149057077
41ASLp.Leu262ProVAR_072212
42ASLp.Leu295ProVAR_072213
43ASLp.Gly301ArgVAR_072214
44ASLp.Arg306TrpVAR_072215
45ASLp.Asp324AlaVAR_072216
46ASLp.Gln326LeuVAR_072217
47ASLp.Leu343PheVAR_072218
48ASLp.Leu343ProVAR_072219
49ASLp.Met368ValVAR_072220
50ASLp.Lys380GluVAR_072221
51ASLp.Arg385HisVAR_072222rs746120802
52ASLp.Arg385LeuVAR_072223
53ASLp.His388GlnVAR_072224
54ASLp.Ser433ArgVAR_072225rs796051928
55ASLp.Val434LeuVAR_072226rs773071023
56ASLp.Ser447AsnVAR_072227rs373519615
57ASLp.Arg456GlnVAR_072228rs767271619
58ASLp.Glu73LysVAR_075551
59ASLp.Arg297GlnVAR_075552rs750431938

Clinvar genetic disease variations for Argininosuccinic Aciduria:

5 (show all 23)
id Gene Variation Type Significance SNP ID Assembly Location
1ASLNM_000048.3(ASL): c.1060C> T (p.Gln354Ter)single nucleotide variantPathogenicrs367543005GRCh37Chr 7, 65554680: 65554680
2ASLNM_001024943.1(ASL): c.346C> T (p.Gln116Ter)single nucleotide variantPathogenicrs367543006GRCh37Chr 7, 65547921: 65547921
3ASLNM_000048.3(ASL): c.175G> A (p.Glu59Lys)single nucleotide variantPathogenicrs869312985GRCh37Chr 7, 65546952: 65546952
4ASLNM_000048.3(ASL): c.257A> C (p.Glu86Ala)single nucleotide variantPathogenicrs869312986GRCh37Chr 7, 65547404: 65547404
5ASLNM_000048.3(ASL): c.292delG (p.Glu98Serfs)deletionPathogenicrs869312987GRCh37Chr 7, 65547867: 65547867
6ASLNM_000048.3(ASL): c.461T> C (p.Leu154Pro)single nucleotide variantPathogenicrs869312988GRCh38Chr 7, 66086599: 66086599
7ASLNM_000048.3(ASL): c.575_580dupAGCGGA (p.Arg193_Ile194insLysArg)duplicationPathogenicrs869312989GRCh37Chr 7, 65551781: 65551786
8ASLNM_000048.3(ASL): c.718+5G> Asingle nucleotide variantPathogenicrs869312990GRCh38Chr 7, 66087796: 66087796
9ASLNM_000048.3(ASL): c.762C> A (p.Ser254Arg)single nucleotide variantPathogenicrs869312991GRCh38Chr 7, 66088850: 66088850
10ASLNM_000048.3(ASL): c.889C> T (p.Arg297Trp)single nucleotide variantPathogenicrs869312992GRCh38Chr 7, 66089146: 66089146
11ASLNM_000048.3(ASL): c.1122dupC (p.Tyr375Leufs)duplicationPathogenicrs869312993GRCh37Chr 7, 65557052: 65557052
12ASLNM_000048.3(ASL): c.1360C> T (p.Gln454Ter)single nucleotide variantPathogenicrs869312994GRCh38Chr 7, 66092877: 66092877
13ASLNM_000048.3(ASL): c.524+2T> Gsingle nucleotide variantPathogenicrs869312976GRCh38Chr 7, 66086664: 66086664
14ASLNM_000048.3(ASL): c.1079T> C (p.Met360Thr)single nucleotide variantPathogenicrs875989948GRCh37Chr 7, 65557009: 65557009
15ASLNM_000048.3(ASL): c.283C> T (p.Arg95Cys)single nucleotide variantPathogenicrs28940585GRCh37Chr 7, 65547430: 65547430
16ASLNM_000048.3(ASL): c.857A> G (p.Gln286Arg)single nucleotide variantPathogenicrs28941472GRCh37Chr 7, 65554101: 65554101
17ASLASL, IVS5, G-A, +1single nucleotide variantPathogenic
18ASLNM_001024943.1(ASL): c.1153C> T (p.Arg385Cys)single nucleotide variantPathogenicrs28940286GRCh37Chr 7, 65557553: 65557553
19ASLNM_000048.3(ASL): c.532G> A (p.Val178Met)single nucleotide variantPathogenicrs28941473GRCh37Chr 7, 65551738: 65551738
20ASLNM_000048.3(ASL): c.1135C> T (p.Arg379Cys)single nucleotide variantPathogenicrs28940287GRCh37Chr 7, 65557065: 65557065
21ASLNM_000048.3(ASL): c.280C> T (p.Arg94Cys)single nucleotide variantPathogenicrs374304304GRCh37Chr 7, 65547427: 65547427
22ASLNM_000048.3(ASL): c.35G> A (p.Arg12Gln)single nucleotide variantPathogenicrs145138923GRCh37Chr 7, 65546812: 65546812
23ASLNM_000048.3(ASL): c.544C> T (p.Arg182Ter)single nucleotide variantPathogenicrs398123126GRCh37Chr 7, 65551750: 65551750

Expression for genes affiliated with Argininosuccinic Aciduria

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Search GEO for disease gene expression data for Argininosuccinic Aciduria.

Pathways for genes affiliated with Argininosuccinic Aciduria

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GO Terms for genes affiliated with Argininosuccinic Aciduria

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1arginine biosynthetic process via ornithineGO:004245010.0ASL, OTC
2response to zinc ionGO:00100439.8ASS1, OTC
3midgut developmentGO:00074949.7ASS1, OTC
4response to nutrientGO:00075849.5ADSL, ASS1
5protein tetramerizationGO:00512629.4ADSL, ASL
6liver developmentGO:00018899.2ASS1, OTC
7arginine biosynthetic processGO:00065269.1ASL, ASS1, NAGS
8urea cycleGO:00000508.6ASL, ASS1, NAGS, OTC

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

idNameGO IDScoreTop Affiliating Genes
1amino acid bindingGO:00165979.5ASS1, OTC

Sources for Argininosuccinic Aciduria

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet