ARGIN
MCID: ARG007
MIFTS: 53

Argininemia (ARGIN)

Categories: Blood diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Argininemia

MalaCards integrated aliases for Argininemia:

Name: Argininemia 58 12 54 26 60 76 13 41
Hyperargininemia 58 12 25 54 26 60 76 38 56 45 15 74
Arginase Deficiency 58 12 77 25 54 26 60 76 30 6
Arg1 Deficiency 58 54 26 76
Arginase Deficiency Disease 26
Deficiency of Canavanase 12
Arginase-1 Deficiency 76
Argin 76

Characteristics:

Orphanet epidemiological data:

60
argininemia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Europe); Age of onset: Childhood,Infancy;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
prevalence is estimated to be 1 in 1,100,000


HPO:

33
argininemia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:9278
OMIM 58 207800
KEGG 38 H00186
MeSH 45 D020162
NCIt 51 C84568
SNOMED-CT 69 23501004
ICD10 34 E72.21
MESH via Orphanet 46 D020162
ICD10 via Orphanet 35 E72.2
UMLS via Orphanet 75 C0268548
Orphanet 60 ORPHA90
MedGen 43 C0268548
UMLS 74 C0268548

Summaries for Argininemia

NIH Rare Diseases : 54 Arginase deficiency is an inheritedmetabolic disease in which the body is unable to process arginine (a building block of protein). It belongs to a group of disorders known as urea cycle disorders. These occur when the body's process for removing ammonia is disrupted, which can cause ammonia levels in the blood to rise (hyperammonemia). In most cases, symptoms appear between the ages of one and three years. Symptoms may include feeding problems, vomiting, poor growth, seizures, and stiff muscles with increased reflexes (spasticity). People with arginase deficiency may also have developmental delay, loss of developmental milestones, and intellectual disability. Arginase deficiency is caused by mutations in the ARG1 gene and is inherited in an autosomal recessive manner. Treatment is focused on lowering arginine levels and preventing hyperammonemia. People with arginase deficiency are generally placed on a very low-protein diet with the help of a registered metabolic dietitian. They may be prescribed certain medications called nitrogen-scavenging drugs.

MalaCards based summary : Argininemia, also known as hyperargininemia, is related to carbamoyl phosphate synthetase i deficiency, hyperammonemia due to and ornithine transcarbamylase deficiency, hyperammonemia due to, and has symptoms including seizures and vomiting. An important gene associated with Argininemia is ARG1 (Arginase 1), and among its related pathways/superpathways are Arginine biosynthesis and Arginine and proline metabolism. The drugs carbamide peroxide and Vaccines have been mentioned in the context of this disorder. Affiliated tissues include liver, brain and cortex, and related phenotypes are neurological speech impairment and behavioral abnormality

Disease Ontology : 12 An urea cycle disorder that involves arginase deficiency resulting in elevated levels of plasma arginine.

Genetics Home Reference : 26 Arginase deficiency is an inherited disorder that causes the amino acid arginine (a building block of proteins) and ammonia to accumulate gradually in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if levels become too high. The nervous system is especially sensitive to the effects of excess ammonia.

OMIM : 58 Arginase deficiency is an autosomal recessive inborn error of metabolism caused by a defect in the final step in the urea cycle, the hydrolysis of arginine to urea and ornithine. 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 (207900), and arginase deficiency. (207800)

UniProtKB/Swiss-Prot : 76 Argininemia: A rare autosomal recessive disorder of the urea cycle. Arginine is elevated in the blood and cerebrospinal fluid, and periodic hyperammonemia occurs. Clinical manifestations include developmental delay, seizures, mental retardation, hypotonia, ataxia and progressive spastic quadriplegia.

Wikipedia : 77 Argininemia, also called arginase deficiency, is an autosomal recessive urea cycle disorder where a... more...

GeneReviews: NBK1159

Related Diseases for Argininemia

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

(show all 47)
# Related Disease Score Top Affiliating Genes
1 carbamoyl phosphate synthetase i deficiency, hyperammonemia due to 31.3 ASS1 NAGS OTC
2 ornithine transcarbamylase deficiency, hyperammonemia due to 30.8 ASL ASS1 NAGS OTC
3 argininosuccinic aciduria 30.8 ASL ASS1 NAGS OTC
4 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 29.8 NAGS OTC
5 orotic aciduria 29.5 ASL ASS1 OTC
6 porphyria 10.5
7 spastic diplegia 10.2
8 coproporphyria, hereditary 10.2
9 porphyria, acute intermittent 10.2
10 porphyria variegata 10.2
11 gingivitis 10.1
12 cerebral palsy 10.1
13 status epilepticus 10.1
14 growth hormone deficiency 10.1
15 ornithinemia 10.1
16 cholestasis 10.0
17 epilepsy 10.0
18 neonatal jaundice 10.0
19 uremia 10.0
20 spastic paraparesis 10.0
21 hereditary spastic paraplegia 10.0
22 paraplegia 10.0
23 inherited metabolic disorder 10.0
24 colorectal cancer 9.9
25 protoporphyria, erythropoietic, 1 9.9
26 horns in sheep 9.9
27 beta-thalassemia 9.9
28 infantile liver failure syndrome 1 9.9
29 acute liver failure 9.9
30 thalassemia 9.9
31 thrombosis 9.9
32 coronary thrombosis 9.9
33 allergic hypersensitivity disease 9.9
34 acute porphyria 9.9
35 bacterial vaginosis 9.9
36 periodontitis 9.9
37 homocystinuria 9.9
38 charles bonnet syndrome 9.9
39 postpartum psychosis 9.9 ASS1 OTC
40 reye syndrome 9.9 ASS1 OTC
41 phenylketonuria 9.8
42 encephalopathy 9.8
43 citrullinemia, classic 9.7 ASS1 NAGS OTC
44 carbonic anhydrase va deficiency, hyperammonemia due to 9.7 ASS1 NAGS OTC
45 propionic acidemia 9.6 ASS1 NAGS OTC
46 lysinuric protein intolerance 9.6 ASL ASS1
47 urea cycle disorder 9.1 ARG1 ASL ASS1 NAGS OTC

Graphical network of the top 20 diseases related to Argininemia:



Diseases related to Argininemia

Symptoms & Phenotypes for Argininemia

Human phenotypes related to Argininemia:

60 33 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 neurological speech impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0002167
2 behavioral abnormality 60 33 hallmark (90%) Very frequent (99-80%) HP:0000708
3 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
4 intellectual disability, severe 60 33 hallmark (90%) Very frequent (99-80%) HP:0010864
5 diaminoaciduria 60 33 hallmark (90%) Very frequent (99-80%) HP:0008339
6 seizures 60 33 frequent (33%) Frequent (79-30%) HP:0001250
7 eeg abnormality 60 33 frequent (33%) Frequent (79-30%) HP:0002353
8 hemiplegia/hemiparesis 60 33 frequent (33%) Frequent (79-30%) HP:0004374
9 hyperammonemia 60 33 frequent (33%) Frequent (79-30%) HP:0001987
10 progressive spastic quadriplegia 60 33 frequent (33%) Frequent (79-30%) HP:0002478
11 intellectual disability 33 HP:0001249
12 vomiting 33 HP:0002013
13 irritability 33 HP:0000737
14 postnatal growth retardation 33 HP:0008897
15 anorexia 33 HP:0002039
16 hyperactivity 33 HP:0000752
17 oroticaciduria 33 HP:0003218

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
progressive spastic quadriplegia
developmental delay
mental retardation

Neurologic Behavioral Psychiatric Manifestations:
irritability
hyperactivity

Growth Other:
growth failure

Abdomen External Features:
vomiting
anorexia

Laboratory Abnormalities:
hyperammonemia
hyperarginemia
diaminoaciduria (arginuria, lysinuria, cystinuria, ornithinuria)
orotic aciduria
pyrimidinuria
more
Metabolic Features:
protein intolerance

Clinical features from OMIM:

207800

UMLS symptoms related to Argininemia:


seizures, vomiting

MGI Mouse Phenotypes related to Argininemia:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.43 ARG1 ARG2 ASL ASS1 NAGS OTC
2 integument MP:0010771 8.92 ASL ASS1 NAGS OTC

Drugs & Therapeutics for Argininemia

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
carbamide peroxide Approved 124-43-6
2 Vaccines

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Efficacy and Safety of Pegzilarginase in Patients With Arginase 1 Deficiency Recruiting NCT03921541 Phase 3 Pegzilarginase;Placebo;Pegzilarginase
2 A Phase 1/2 Study of AEB1102 in Patients With Arginase I Deficiency Completed NCT02488044 Phase 1, Phase 2 AEB1102
3 A Study of AEB1102 (Pegzilarginase) in Patients With Arginase I Deficiency Recruiting NCT03378531 Phase 2 AEB1102
4 The NIH UNI Study: Urea Cycle Disorders, Nutrition and Immunity Terminated NCT01421888

Search NIH Clinical Center for Argininemia

Cochrane evidence based reviews: hyperargininemia

Genetic Tests for Argininemia

Genetic tests related to Argininemia:

# Genetic test Affiliating Genes
1 Arginase Deficiency 30 ARG1

Anatomical Context for Argininemia

MalaCards organs/tissues related to Argininemia:

42
Liver, Brain, Cortex, Skin, Kidney, Testes

Publications for Argininemia

Articles related to Argininemia:

(show top 50) (show all 91)
# Title Authors Year
1
Argininemia as a cause of severe chronic stunting and partial growth hormone deficiency (PGHD): A case report. ( 29443755 )
2018
2
Argininemia, Hyperornithinemia, and 3-Hydroxyisovaleric Aciduria. ( 29844061 )
2018
3
Coagulation Disturbances in Patients with Argininemia. ( 30355940 )
2018
4
"Cerebral Palsy" in a Patient With Arginase Deficiency. ( 29961498 )
2018
5
Recurrent hepatic failure and status epilepticus: an uncommon presentation of hyperargininemia. ( 29961243 )
2018
6
A case report of neurological complications owing to lately diagnosed hyperargininemia emphasizing the role of national neonatal screening policies in the kingdom of Bahrain. ( 29768370 )
2018
7
Three novel mutations of ARG1 identified in Chinese patients with argininemia detected by newborn screening. ( 28089752 )
2017
8
Hyperargininemia and renal oxidative stress: Prevention by antioxidants and NG -nitro-l-arginine methyl ester. ( 27489181 )
2017
9
Newborn screening for hyperargininemia due to arginase 1 deficiency. ( 28659245 )
2017
10
Argininemia as a cause of severe chronic stunting in a low-resource developing country setting: a case report. ( 27549856 )
2016
11
Argininemia and plasma arginine bioavailability - predictive factors of mortality in the severe trauma patients? ( 27582779 )
2016
12
Late onset arginase deficiency presenting with encephalopathy and midbrain hyperintensity. ( 27570396 )
2016
13
Minimal ureagenesis is necessary for survival in the murine model of hyperargininemia treated by AAV-based gene therapy. ( 25474440 )
2015
14
Minimal ureagenesis is necessary for survival in the murine model of hyperargininemia treated by AAV-based gene therapy. ( 25652179 )
2015
15
Hyperargininemia due to arginase I deficiency: the original patients and their natural history, and a review of the literature. ( 26123990 )
2015
16
Characterization and mRNA expression analysis of a novel ARG1 splicing mutation causing hyperargininemia. ( 26169240 )
2015
17
Epilepsia partialis continua and generalized nonconvulsive status epilepticus during the course of argininemia: a report on two cases. ( 24258525 )
2014
18
Hyperargininemia: 7-month follow-up under sodium benzoate therapy in an Italian child presenting progressive spastic paraparesis, cognitive decline, and novel mutation in ARG1 gene. ( 24997092 )
2014
19
Brain MRI and magnetic resonance spectroscopy findings in patients with hyperargininemia. ( 22928720 )
2014
20
Novel complex re-arrangement of ARG1 commonly shared by unrelated patients with hyperargininemia. ( 24103480 )
2014
21
Myocyte-mediated arginase expression controls hyperargininemia but not hyperammonemia in arginase-deficient mice. ( 24888478 )
2014
22
Effect of N-acetylarginine, a metabolite accumulated in hyperargininemia, on parameters of oxidative stress in rats: protective role of vitamins and L-NAME. ( 25042906 )
2014
23
Case Report of Argininemia: The Utility of the Arginine/Ornithine Ratio for Newborn Screening (NBS). ( 23430558 )
2013
24
Liver transplantation prevents progressive neurological impairment in argininemia. ( 23559324 )
2013
25
Five novel mutations in ARG1 gene in Chinese patients of argininemia. ( 23859858 )
2013
26
Inducible arginase 1 deficiency in mice leads to hyperargininemia and altered amino acid metabolism. ( 24224027 )
2013
27
Clinical features and neurologic progression of hyperargininemia. ( 22633632 )
2012
28
Analysis of novel ARG1 mutations causing hyperargininemia and correlation with arginase I activity in erythrocytes. ( 22959135 )
2012
29
Hyperargininemia: a family with a novel mutation in an unexpected site. ( 23430921 )
2012
30
Argininemia presenting with progressive spastic diplegia. ( 21310339 )
2011
31
Guanidino compound levels in blood, cerebrospinal fluid, and post-mortem brain material of patients with argininemia. ( 20176499 )
2010
32
Neonatal cholestasis: an uncommon presentation of hyperargininemia. ( 21229317 )
2010
33
Diffusion tensor imaging in arginase deficiency reveals damage to corticospinal tracts. ( 20004862 )
2010
34
A novel mutation in ARG1 gene is responsible for arginase deficiency in an Asian family. ( 19936428 )
2009
35
Increased plasma and tissue guanidino compounds in a mouse model of hyperargininemia. ( 17997338 )
2008
36
Neuroimaging findings in hyperargininemia. ( 18321250 )
2008
37
NTPDase and 5'-nucleotidase activities of synaptosomes from hippocampus of rats subjected to hyperargininemia. ( 17401661 )
2007
38
Clinical, biochemical, and molecular spectrum of hyperargininemia due to arginase I deficiency. ( 16602094 )
2006
39
Hyperargininemia due to liver arginase deficiency. ( 15694174 )
2005
40
L-NAME administration prevents the inhibition of nucleotide hydrolysis by rat blood serum subjected to hyperargininemia. ( 15977041 )
2005
41
Prenatal diagnosis for arginase deficiency by second-trimester fetal erythrocyte arginase assay and first-trimester ARG1 mutation analysis. ( 15565656 )
2004
42
Functional consequences of the G235R mutation in liver arginase leading to hyperargininemia. ( 11883902 )
2002
43
In vitro stimulation of oxidative stress in cerebral cortex of rats by the guanidino compounds accumulating in hyperargininemia. ( 11743972 )
2001
44
Identification of a novel R21X mutation in the liver-type arginase gene (ARG1) in four Portuguese patients with argininemia. ( 10502833 )
1999
45
In vitro inhibition of Na+,K(+)-ATPase activity from rat cerebral cortex by guanidino compounds accumulating in hyperargininemia. ( 10446319 )
1999
46
Molecular basis of hyperargininemia: structure-function consequences of mutations in human liver arginase. ( 9758714 )
1998
47
The human arginases and arginase deficiency. ( 9686347 )
1998
48
Argininemia: a treatable genetic cause of progressive spastic diplegia simulating cerebral palsy: case reports and literature review. ( 9378897 )
1997
49
Hyperargininemia presenting as persistent neonatal jaundice and hepatic cirrhosis. ( 9106111 )
1997
50
Molecular basis of phenotypic variation in patients with argininemia. ( 7649538 )
1995

Variations for Argininemia

UniProtKB/Swiss-Prot genetic disease variations for Argininemia:

76
# Symbol AA change Variation ID SNP ID
1 ARG1 p.Gly235Arg VAR_000674 rs104893948
2 ARG1 p.Ile11Thr VAR_015594 rs28941474
3 ARG1 p.Gly138Val VAR_015595 rs104893943
4 ARG1 p.Gly27Asp VAR_072164 rs132693038
5 ARG1 p.Gly74Val VAR_072165
6 ARG1 p.Ala125Val VAR_072166
7 ARG1 p.Thr134Ile VAR_072167
8 ARG1 p.Arg180Thr VAR_072168
9 ARG1 p.Arg308Gln VAR_072169 rs377280518

ClinVar genetic disease variations for Argininemia:

6 (show top 50) (show all 125)
# Gene Variation Type Significance SNP ID Assembly Location
1 ARG1 ARG1, 4-BP DEL deletion Pathogenic
2 ARG1 ARG1, 1-BP DEL deletion Pathogenic
3 ARG1 NM_000045.3(ARG1): c.871C> T (p.Arg291Ter) single nucleotide variant Pathogenic/Likely pathogenic rs104893940 GRCh37 Chromosome 6, 131904950: 131904950
4 ARG1 NM_000045.3(ARG1): c.871C> T (p.Arg291Ter) single nucleotide variant Pathogenic/Likely pathogenic rs104893940 GRCh38 Chromosome 6, 131583810: 131583810
5 ARG1 NM_000045.3(ARG1): c.869C> G (p.Thr290Ser) single nucleotide variant Pathogenic rs104893942 GRCh37 Chromosome 6, 131904948: 131904948
6 ARG1 NM_000045.3(ARG1): c.869C> G (p.Thr290Ser) single nucleotide variant Pathogenic rs104893942 GRCh38 Chromosome 6, 131583808: 131583808
7 ARG1 NM_000045.3(ARG1): c.365G> A (p.Trp122Ter) single nucleotide variant Pathogenic rs104893947 GRCh37 Chromosome 6, 131902418: 131902418
8 ARG1 NM_000045.3(ARG1): c.365G> A (p.Trp122Ter) single nucleotide variant Pathogenic rs104893947 GRCh38 Chromosome 6, 131581278: 131581278
9 ARG1 NM_000045.3(ARG1): c.703G> C (p.Gly235Arg) single nucleotide variant Pathogenic rs104893948 GRCh37 Chromosome 6, 131904532: 131904532
10 ARG1 NM_000045.3(ARG1): c.703G> C (p.Gly235Arg) single nucleotide variant Pathogenic rs104893948 GRCh38 Chromosome 6, 131583392: 131583392
11 ARG1 NM_000045.3(ARG1): c.844delC (p.Leu282Trpfs) deletion Pathogenic GRCh38 Chromosome 6, 131583783: 131583783
12 ARG1 NM_000045.3(ARG1): c.844delC (p.Leu282Trpfs) deletion Pathogenic GRCh37 Chromosome 6, 131904923: 131904923
13 ARG1 NM_000045.3(ARG1): c.32T> C (p.Ile11Thr) single nucleotide variant Pathogenic rs28941474 GRCh37 Chromosome 6, 131894454: 131894454
14 ARG1 NM_000045.3(ARG1): c.32T> C (p.Ile11Thr) single nucleotide variant Pathogenic rs28941474 GRCh38 Chromosome 6, 131573314: 131573314
15 ARG1 NM_000045.3(ARG1): c.413G> T (p.Gly138Val) single nucleotide variant Pathogenic rs104893943 GRCh37 Chromosome 6, 131902466: 131902466
16 ARG1 NM_000045.3(ARG1): c.413G> T (p.Gly138Val) single nucleotide variant Pathogenic rs104893943 GRCh38 Chromosome 6, 131581326: 131581326
17 ARG1 NM_000045.3(ARG1): c.57+1G> A single nucleotide variant Pathogenic rs587776539 GRCh37 Chromosome 6, 131894480: 131894480
18 ARG1 NM_000045.3(ARG1): c.57+1G> A single nucleotide variant Pathogenic rs587776539 GRCh38 Chromosome 6, 131573340: 131573340
19 ARG1 ARG1, IVS4AS, A-G, -2 single nucleotide variant Pathogenic
20 ARG1 NM_000045.3(ARG1): c.61C> T (p.Arg21Ter) single nucleotide variant Pathogenic rs104893944 GRCh37 Chromosome 6, 131897806: 131897806
21 ARG1 NM_000045.3(ARG1): c.61C> T (p.Arg21Ter) single nucleotide variant Pathogenic rs104893944 GRCh38 Chromosome 6, 131576666: 131576666
22 ARG1; MED23 NM_000045.3(ARG1): c.270C> T (p.Asn90=) single nucleotide variant Benign/Likely benign rs34504481 GRCh37 Chromosome 6, 131900390: 131900390
23 ARG1; MED23 NM_000045.3(ARG1): c.270C> T (p.Asn90=) single nucleotide variant Benign/Likely benign rs34504481 GRCh38 Chromosome 6, 131579250: 131579250
24 ARG1 NM_000045.3(ARG1): c.272dupG (p.Arg92Lysfs) duplication Pathogenic/Likely pathogenic rs796051923 GRCh38 Chromosome 6, 131579252: 131579252
25 ARG1 NM_000045.3(ARG1): c.272dupG (p.Arg92Lysfs) duplication Pathogenic/Likely pathogenic rs796051923 GRCh37 Chromosome 6, 131900392: 131900392
26 ARG1 NM_000045.3(ARG1): c.-70A> G single nucleotide variant Uncertain significance rs192353153 GRCh38 Chromosome 6, 131573213: 131573213
27 ARG1 NM_000045.3(ARG1): c.-70A> G single nucleotide variant Uncertain significance rs192353153 GRCh37 Chromosome 6, 131894353: 131894353
28 ARG1 NM_000045.3(ARG1): c.57G> A (p.Gln19=) single nucleotide variant Uncertain significance rs150766204 GRCh37 Chromosome 6, 131894479: 131894479
29 ARG1 NM_000045.3(ARG1): c.57G> A (p.Gln19=) single nucleotide variant Uncertain significance rs150766204 GRCh38 Chromosome 6, 131573339: 131573339
30 ARG1 NM_000045.3(ARG1): c.*73A> G single nucleotide variant Uncertain significance rs886061062 GRCh37 Chromosome 6, 131905121: 131905121
31 ARG1 NM_000045.3(ARG1): c.*73A> G single nucleotide variant Uncertain significance rs886061062 GRCh38 Chromosome 6, 131583981: 131583981
32 ARG1 NM_000045.3(ARG1): c.-65C> T single nucleotide variant Likely benign rs17788484 GRCh37 Chromosome 6, 131894358: 131894358
33 ARG1 NM_000045.3(ARG1): c.-65C> T single nucleotide variant Likely benign rs17788484 GRCh38 Chromosome 6, 131573218: 131573218
34 ARG1 NM_000045.3(ARG1): c.-21A> C single nucleotide variant Uncertain significance rs370747314 GRCh37 Chromosome 6, 131894402: 131894402
35 ARG1 NM_000045.3(ARG1): c.-21A> C single nucleotide variant Uncertain significance rs370747314 GRCh38 Chromosome 6, 131573262: 131573262
36 ARG1 NM_000045.3(ARG1): c.305+7T> C single nucleotide variant Uncertain significance rs886061060 GRCh37 Chromosome 6, 131900432: 131900432
37 ARG1 NM_000045.3(ARG1): c.305+7T> C single nucleotide variant Uncertain significance rs886061060 GRCh38 Chromosome 6, 131579292: 131579292
38 ARG1 NM_000045.3(ARG1): c.566T> A (p.Ile189Asn) single nucleotide variant Uncertain significance rs886061061 GRCh37 Chromosome 6, 131904205: 131904205
39 ARG1 NM_000045.3(ARG1): c.566T> A (p.Ile189Asn) single nucleotide variant Uncertain significance rs886061061 GRCh38 Chromosome 6, 131583065: 131583065
40 ARG1 NM_000045.3(ARG1): c.*310A> G single nucleotide variant Uncertain significance rs142812031 GRCh37 Chromosome 6, 131905358: 131905358
41 ARG1 NM_000045.3(ARG1): c.*310A> G single nucleotide variant Uncertain significance rs142812031 GRCh38 Chromosome 6, 131584218: 131584218
42 ARG1 NM_000045.3(ARG1): c.75A> G (p.Glu25=) single nucleotide variant Conflicting interpretations of pathogenicity rs755973004 GRCh37 Chromosome 6, 131897820: 131897820
43 ARG1 NM_000045.3(ARG1): c.75A> G (p.Glu25=) single nucleotide variant Conflicting interpretations of pathogenicity rs755973004 GRCh38 Chromosome 6, 131576680: 131576680
44 ARG1 NM_000045.3(ARG1): c.944T> C (p.Ile315Thr) single nucleotide variant Uncertain significance rs202219126 GRCh37 Chromosome 6, 131905023: 131905023
45 ARG1 NM_000045.3(ARG1): c.944T> C (p.Ile315Thr) single nucleotide variant Uncertain significance rs202219126 GRCh38 Chromosome 6, 131583883: 131583883
46 ARG1 NM_000045.3(ARG1): c.466-1G> C single nucleotide variant Pathogenic rs1064794165 GRCh38 Chromosome 6, 131582620: 131582620
47 ARG1 NM_000045.3(ARG1): c.466-1G> C single nucleotide variant Pathogenic rs1064794165 GRCh37 Chromosome 6, 131903760: 131903760
48 ARG1 NM_000045.3(ARG1): c.703G> A (p.Gly235Arg) single nucleotide variant Pathogenic/Likely pathogenic rs104893948 GRCh38 Chromosome 6, 131583392: 131583392
49 ARG1 NM_000045.3(ARG1): c.703G> A (p.Gly235Arg) single nucleotide variant Pathogenic/Likely pathogenic rs104893948 GRCh37 Chromosome 6, 131904532: 131904532
50 ARG1 NM_000045.3(ARG1): c.892G> C (p.Ala298Pro) single nucleotide variant Uncertain significance rs755359126 GRCh38 Chromosome 6, 131583831: 131583831

Expression for Argininemia

Search GEO for disease gene expression data for Argininemia.

Pathways for Argininemia

Pathways related to Argininemia according to KEGG:

38
# Name Kegg Source Accession
1 Arginine biosynthesis hsa00220
2 Arginine and proline metabolism hsa00330

Pathways related to Argininemia according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.77 ARG1 ARG2 ASL ASS1 NAGS OTC
2
Show member pathways
13.53 ARG1 ARG2 ASL ASS1 NAGS OTC
3
Show member pathways
13.2 ARG1 ARG2 ASL ASS1 NAGS OTC
4 12.12 ARG1 ARG2 ASS1
5
Show member pathways
11.96 ARG1 ARG2 ASL ASS1 NAGS OTC
6 11.52 ARG1 ARG2 ASS1 OTC
7 11.49 ARG1 ARG2
8
Show member pathways
11.23 ARG1 ARG2
9 10.99 ASL ASS1
10
Show member pathways
10.85 ARG1 ARG2 ASL ASS1 NAGS OTC
11
Show member pathways
10.48 ASL ASS1
12
Show member pathways
10.48 ARG1 ARG2 ASL ASS1 NAGS OTC

GO Terms for Argininemia

Cellular components related to Argininemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.26 ARG2 ASS1 NAGS OTC
2 mitochondrial matrix GO:0005759 8.8 ARG2 NAGS OTC

Biological processes related to Argininemia according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.73 ARG1 ASS1 OTC
2 liver development GO:0001889 9.61 ARG1 ASS1 OTC
3 response to peptide hormone GO:0043434 9.58 ARG1 ASS1
4 response to amino acid GO:0043200 9.55 ARG1 ASS1
5 cellular response to dexamethasone stimulus GO:0071549 9.54 ARG1 ASS1
6 protein homotrimerization GO:0070207 9.52 ARG1 OTC
7 response to steroid hormone GO:0048545 9.51 ARG1 ASS1
8 cellular amino acid biosynthetic process GO:0008652 9.5 ASL ASS1 OTC
9 cellular response to glucagon stimulus GO:0071377 9.49 ARG1 ASS1
10 response to amine GO:0014075 9.48 ARG1 ASS1
11 midgut development GO:0007494 9.46 ASS1 OTC
12 arginine metabolic process GO:0006525 9.4 ARG1 ARG2
13 arginine biosynthetic process via ornithine GO:0042450 9.37 ASL OTC
14 response to zinc ion GO:0010043 9.33 ARG1 ASS1 OTC
15 cellular amino acid metabolic process GO:0006520 9.27 OTC
16 arginine catabolic process to ornithine GO:0019547 9.26 ARG1 ARG2
17 arginine biosynthetic process GO:0006526 9.26 ASL ASS1 NAGS OTC
18 urea cycle GO:0000050 9.1 ARG1 ARG2 ASL ASS1 NAGS OTC

Molecular functions related to Argininemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 manganese ion binding GO:0030145 9.26 ARG1 ARG2
2 amino acid binding GO:0016597 9.16 ASS1 OTC
3 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidines GO:0016813 8.96 ARG1 ARG2
4 arginase activity GO:0004053 8.62 ARG1 ARG2

Sources for Argininemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
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47 MGI
50 NCI
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52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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