MCID: ARG007
MIFTS: 51

Argininemia

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Argininemia

MalaCards integrated aliases for Argininemia:

Name: Argininemia 57 12 53 25 59 75 13 40
Hyperargininemia 57 12 24 53 25 59 75 37 55 44 15 73
Arginase Deficiency 57 12 76 24 53 25 59 75 29 6
Arg1 Deficiency 57 53 25 75
Arginase Deficiency Disease 25
Deficiency of Canavanase 12
Arginase-1 Deficiency 75
Argin 75

Characteristics:

Orphanet epidemiological data:

59
argininemia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Europe); Age of onset: Childhood,Infancy;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
argininemia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

OMIM 57 207800
Disease Ontology 12 DOID:9278
ICD10 33 E72.21
MeSH 44 D020162
NCIt 50 C84568
SNOMED-CT 68 124518006 23501004
Orphanet 59 ORPHA90
MESH via Orphanet 45 D020162
UMLS via Orphanet 74 C0268548
ICD10 via Orphanet 34 E72.2
MedGen 42 C0268548
KEGG 37 H00186
UMLS 73 C0268548

Summaries for Argininemia

NIH Rare Diseases : 53 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 argininosuccinic aciduria and carbamoyl phosphate synthetase i 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 drug Vaccines has been mentioned in the context of this disorder. Affiliated tissues include liver, testes and kidney, and related phenotypes are behavioral abnormality and seizures

OMIM : 57 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 : 75 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.

Genetics Home Reference : 25 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.

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

Wikipedia : 76 Argininemia, also called arginase deficiency, is an autosomal recessive urea cycle disorder where a... more...

GeneReviews: NBK1159

Related Diseases for Argininemia

Graphical network of the top 20 diseases related to Argininemia:



Diseases related to Argininemia

Symptoms & Phenotypes for Argininemia

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Argininemia:

59 32 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 behavioral abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0000708
2 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
3 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
4 hyperammonemia 59 32 frequent (33%) Frequent (79-30%) HP:0001987
5 neurological speech impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0002167
6 eeg abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0002353
7 progressive spastic quadriplegia 59 32 frequent (33%) Frequent (79-30%) HP:0002478
8 hemiplegia/hemiparesis 59 32 frequent (33%) Frequent (79-30%) HP:0004374
9 diaminoaciduria 59 32 hallmark (90%) Very frequent (99-80%) HP:0008339
10 intellectual disability, severe 59 32 hallmark (90%) Very frequent (99-80%) HP:0010864
11 irritability 32 HP:0000737
12 hyperactivity 32 HP:0000752
13 intellectual disability 32 HP:0001249
14 vomiting 32 HP:0002013
15 anorexia 32 HP:0002039
16 oroticaciduria 32 HP:0003218
17 postnatal growth retardation 32 HP:0008897

UMLS symptoms related to Argininemia:


seizures, vomiting

MGI Mouse Phenotypes related to Argininemia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.63 ARG1 ASL ASS1 CPS1 NAGS OTC
2 integument MP:0010771 9.26 ASL ASS1 NAGS OTC
3 mortality/aging MP:0010768 9.1 ARG1 ASL ASS1 CPS1 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 Vaccines

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase 1/2 Study of AEB1102 in Patients With Arginase I Deficiency Recruiting NCT02488044 Phase 1, Phase 2 AEB1102
2 A Study of AEB1102 (Pegzilarginase) in Patients With Arginase I Deficiency Recruiting NCT03378531 Phase 2 AEB1102
3 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 29 ARG1

Anatomical Context for Argininemia

MalaCards organs/tissues related to Argininemia:

41
Liver, Testes, Kidney, Brain

Publications for Argininemia

Articles related to Argininemia:

(show all 37)
# Title Authors Year
1
Arginase Deficiency (Argininemia) ( 29493987 )
2018
2
&amp;quot;Cerebral Palsy&amp;quot; in a Patient With Arginase Deficiency. ( 29961498 )
2018
3
Argininemia, Hyperornithinemia, and 3-Hydroxyisovaleric Aciduria. ( 29844061 )
2018
4
Argininemia as a cause of severe chronic stunting and partial growth hormone deficiency (PGHD): A case report. ( 29443755 )
2018
5
Three novel mutations of ARG1 identified in Chinese patients with argininemia detected by newborn screening. ( 28089752 )
2017
6
Argininemia as a cause of severe chronic stunting in a low-resource developing country setting: a case report. ( 27549856 )
2016
7
Argininemia and plasma arginine bioavailability - predictive factors of mortality in the severe trauma patients? ( 27582779 )
2016
8
Myocyte-mediated arginase expression controls hyperargininemia but not hyperammonemia in arginase-deficient mice. ( 24888478 )
2014
9
Case Report of Argininemia: The Utility of the Arginine/Ornithine Ratio for Newborn Screening (NBS). ( 23430558 )
2013
10
Five novel mutations in ARG1 gene in Chinese patients of argininemia. ( 23859858 )
2013
11
Epilepsia Partialis Continua and Generalized Nonconvulsive Status Epilepticus during the Course of Argininemia: A Report on Two Cases. ( 24258525 )
2013
12
Liver transplantation prevents progressive neurological impairment in argininemia. ( 23559324 )
2013
13
Argininemia presenting with progressive spastic diplegia. ( 21310339 )
2011
14
Diffusion tensor imaging in arginase deficiency reveals damage to corticospinal tracts. ( 20004862 )
2010
15
Guanidino compound levels in blood, cerebrospinal fluid, and post-mortem brain material of patients with argininemia. ( 20176499 )
2010
16
A novel mutation in ARG1 gene is responsible for arginase deficiency in an Asian family. ( 19936428 )
2009
17
Hyperargininemia due to liver arginase deficiency. ( 15694174 )
2005
18
Prenatal diagnosis for arginase deficiency by second-trimester fetal erythrocyte arginase assay and first-trimester ARG1 mutation analysis. ( 15565656 )
2004
19
Identification of a novel R21X mutation in the liver-type arginase gene (ARG1) in four Portuguese patients with argininemia. ( 10502833 )
1999
20
The human arginases and arginase deficiency. ( 9686347 )
1998
21
Argininemia: a treatable genetic cause of progressive spastic diplegia simulating cerebral palsy: case reports and literature review. ( 9378897 )
1997
22
Molecular basis of phenotypic variation in patients with argininemia. ( 7649538 )
1995
23
Arginase Deficiency ( 20301338 )
1993
24
Arginase deficiency manifesting delayed clinical sequelae and induction of a kidney arginase isozyme. ( 8454280 )
1993
25
Three novel mutations in the liver-type arginase gene in three unrelated Japanese patients with argininemia. ( 1463019 )
1992
26
Molecular genetic study of human arginase deficiency. ( 1598908 )
1992
27
Molecular basis of argininemia. Identification of two discrete frame-shift deletions in the liver-type arginase gene. ( 2365823 )
1990
28
Argininemia. ( 2638334 )
1989
29
A successful trial of enzyme replacement therapy in a case of argininemia. ( 6729810 )
1984
30
Clinical and biochemical findings in argininemia. ( 7164891 )
1982
31
Argininemia: report of a new case and mechanisms of orotic aciduria and hyperammonemia. ( 7164892 )
1982
32
Hyperargininemia with arginase deficiency. ( 481955 )
1979
33
Argininemia treated from birth. ( 480013 )
1979
34
Arginase deficiency in multiple tissues in argininemia. ( 624188 )
1978
35
Argininemia. ( 839367 )
1977
36
A simple screening test for arginase deficiency (hyperargininemia). ( 845487 )
1977
37
Use of enzyme-loaded erythrocytes in in-vitro correction of arginase-deficient erythrocytes in familial hyperargininemia. ( 1253407 )
1976

Variations for Argininemia

UniProtKB/Swiss-Prot genetic disease variations for Argininemia:

75
# 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
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 all 46)
# 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 rs104893940 GRCh37 Chromosome 6, 131904950: 131904950
4 ARG1 NM_000045.3(ARG1): c.871C> T (p.Arg291Ter) single nucleotide variant 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 ARG1, 1-BP DEL, 842C deletion Pathogenic
12 ARG1 NM_000045.3(ARG1): c.32T> C (p.Ile11Thr) single nucleotide variant Pathogenic rs28941474 GRCh37 Chromosome 6, 131894454: 131894454
13 ARG1 NM_000045.3(ARG1): c.32T> C (p.Ile11Thr) single nucleotide variant Pathogenic rs28941474 GRCh38 Chromosome 6, 131573314: 131573314
14 ARG1 NM_000045.3(ARG1): c.413G> T (p.Gly138Val) single nucleotide variant Pathogenic rs104893943 GRCh37 Chromosome 6, 131902466: 131902466
15 ARG1 NM_000045.3(ARG1): c.413G> T (p.Gly138Val) single nucleotide variant Pathogenic rs104893943 GRCh38 Chromosome 6, 131581326: 131581326
16 ARG1 NM_000045.3(ARG1): c.57+1G> A single nucleotide variant Pathogenic rs587776539 GRCh37 Chromosome 6, 131894480: 131894480
17 ARG1 NM_000045.3(ARG1): c.57+1G> A single nucleotide variant Pathogenic rs587776539 GRCh38 Chromosome 6, 131573340: 131573340
18 ARG1 ARG1, IVS4AS, A-G, -2 single nucleotide variant Pathogenic
19 ARG1 NM_000045.3(ARG1): c.61C> T (p.Arg21Ter) single nucleotide variant Pathogenic rs104893944 GRCh37 Chromosome 6, 131897806: 131897806
20 ARG1 NM_000045.3(ARG1): c.61C> T (p.Arg21Ter) single nucleotide variant Pathogenic rs104893944 GRCh38 Chromosome 6, 131576666: 131576666
21 ARG1 NM_000045.3(ARG1): c.-70A> G single nucleotide variant Uncertain significance rs192353153 GRCh38 Chromosome 6, 131573213: 131573213
22 ARG1 NM_000045.3(ARG1): c.-70A> G single nucleotide variant Uncertain significance rs192353153 GRCh37 Chromosome 6, 131894353: 131894353
23 ARG1 NM_000045.3(ARG1): c.57G> A (p.Gln19=) single nucleotide variant Uncertain significance rs150766204 GRCh37 Chromosome 6, 131894479: 131894479
24 ARG1 NM_000045.3(ARG1): c.57G> A (p.Gln19=) single nucleotide variant Uncertain significance rs150766204 GRCh38 Chromosome 6, 131573339: 131573339
25 ARG1 NM_000045.3(ARG1): c.*73A> G single nucleotide variant Uncertain significance rs886061062 GRCh37 Chromosome 6, 131905121: 131905121
26 ARG1 NM_000045.3(ARG1): c.*73A> G single nucleotide variant Uncertain significance rs886061062 GRCh38 Chromosome 6, 131583981: 131583981
27 ARG1 NM_000045.3(ARG1): c.-65C> T single nucleotide variant Likely benign rs17788484 GRCh37 Chromosome 6, 131894358: 131894358
28 ARG1 NM_000045.3(ARG1): c.-65C> T single nucleotide variant Likely benign rs17788484 GRCh38 Chromosome 6, 131573218: 131573218
29 ARG1 NM_000045.3(ARG1): c.-21A> C single nucleotide variant Uncertain significance rs370747314 GRCh37 Chromosome 6, 131894402: 131894402
30 ARG1 NM_000045.3(ARG1): c.-21A> C single nucleotide variant Uncertain significance rs370747314 GRCh38 Chromosome 6, 131573262: 131573262
31 ARG1 NM_000045.3(ARG1): c.305+7T> C single nucleotide variant Uncertain significance rs886061060 GRCh37 Chromosome 6, 131900432: 131900432
32 ARG1 NM_000045.3(ARG1): c.305+7T> C single nucleotide variant Uncertain significance rs886061060 GRCh38 Chromosome 6, 131579292: 131579292
33 ARG1 NM_000045.3(ARG1): c.566T> A (p.Ile189Asn) single nucleotide variant Uncertain significance rs886061061 GRCh37 Chromosome 6, 131904205: 131904205
34 ARG1 NM_000045.3(ARG1): c.566T> A (p.Ile189Asn) single nucleotide variant Uncertain significance rs886061061 GRCh38 Chromosome 6, 131583065: 131583065
35 ARG1 NM_000045.3(ARG1): c.*310A> G single nucleotide variant Uncertain significance rs142812031 GRCh37 Chromosome 6, 131905358: 131905358
36 ARG1 NM_000045.3(ARG1): c.*310A> G single nucleotide variant Uncertain significance rs142812031 GRCh38 Chromosome 6, 131584218: 131584218
37 ARG1 NM_000045.3(ARG1): c.75A> G (p.Glu25=) single nucleotide variant Conflicting interpretations of pathogenicity rs755973004 GRCh37 Chromosome 6, 131897820: 131897820
38 ARG1 NM_000045.3(ARG1): c.75A> G (p.Glu25=) single nucleotide variant Conflicting interpretations of pathogenicity rs755973004 GRCh38 Chromosome 6, 131576680: 131576680
39 ARG1 NM_000045.3(ARG1): c.944T> C (p.Ile315Thr) single nucleotide variant Uncertain significance rs202219126 GRCh37 Chromosome 6, 131905023: 131905023
40 ARG1 NM_000045.3(ARG1): c.944T> C (p.Ile315Thr) single nucleotide variant Uncertain significance rs202219126 GRCh38 Chromosome 6, 131583883: 131583883
41 ARG1 NM_000045.3(ARG1): c.938delA (p.Lys313Serfs) deletion Pathogenic GRCh38 Chromosome 6, 131583877: 131583877
42 ARG1 NM_000045.3(ARG1): c.938delA (p.Lys313Serfs) deletion Pathogenic GRCh37 Chromosome 6, 131905017: 131905017
43 ARG1 NM_000045.3(ARG1): c.241G> A (p.Ala81Thr) single nucleotide variant Uncertain significance rs142107090 GRCh37 Chromosome 6, 131900361: 131900361
44 ARG1 NM_000045.3(ARG1): c.241G> A (p.Ala81Thr) single nucleotide variant Uncertain significance rs142107090 GRCh38 Chromosome 6, 131579221: 131579221
45 ARG1 NM_000045.3(ARG1): c.207T> G (p.Asn69Lys) single nucleotide variant Uncertain significance GRCh37 Chromosome 6, 131900327: 131900327
46 ARG1 NM_000045.3(ARG1): c.207T> G (p.Asn69Lys) single nucleotide variant Uncertain significance GRCh38 Chromosome 6, 131579187: 131579187

Expression for Argininemia

Search GEO for disease gene expression data for Argininemia.

Pathways for Argininemia

Pathways related to Argininemia according to KEGG:

37
# Name Kegg Source Accession
1 Arginine biosynthesis hsa00220
2 Arginine and proline metabolism hsa00330

Pathways related to Argininemia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.73 ARG1 ASL ASS1 CPS1 NAGS OTC
2
Show member pathways
13.54 ARG1 ASL ASS1 CPS1 NAGS OTC
3
Show member pathways
13.25 ARG1 ASL ASS1 CPS1 NAGS OTC
4
Show member pathways
11.96 ARG1 ASL ASS1 CPS1 NAGS OTC
5 11.52 ARG1 ASS1 CPS1 OTC
6 11.04 ASL ASS1 CPS1
7
Show member pathways
10.85 ARG1 ASL ASS1 CPS1 NAGS OTC
8
Show member pathways
10.52 ASL ASS1
9
Show member pathways
10.48 ARG1 ASL ASS1 CPS1 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 ASS1 CPS1 NAGS OTC
2 mitochondrial matrix GO:0005759 8.8 CPS1 NAGS OTC

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.85 ARG1 ASS1 CPS1 OTC
2 response to lipopolysaccharide GO:0032496 9.75 ARG1 ASS1 CPS1
3 cellular amino acid biosynthetic process GO:0008652 9.67 ASL ASS1 OTC
4 liver development GO:0001889 9.67 ARG1 ASS1 CPS1 OTC
5 cellular response to glucagon stimulus GO:0071377 9.63 ARG1 ASS1 CPS1
6 cellular response to lipopolysaccharide GO:0071222 9.62 ARG1 ASS1
7 response to toxic substance GO:0009636 9.62 ASS1 CPS1
8 response to glucocorticoid GO:0051384 9.61 ASS1 CPS1
9 response to peptide hormone GO:0043434 9.61 ARG1 ASS1
10 response to amino acid GO:0043200 9.61 ARG1 ASS1 CPS1
11 cellular response to cAMP GO:0071320 9.6 ASS1 CPS1
12 cellular response to dexamethasone stimulus GO:0071549 9.59 ARG1 ASS1
13 protein homotrimerization GO:0070207 9.58 ARG1 OTC
14 response to steroid hormone GO:0048545 9.58 ARG1 ASS1 CPS1
15 response to growth hormone GO:0060416 9.57 ASS1 CPS1
16 citrulline biosynthetic process GO:0019240 9.56 CPS1 OTC
17 arginine biosynthetic process via ornithine GO:0042450 9.54 ASL OTC
18 primary metabolic process GO:0044238 9.52 CPS1 OTC
19 cellular response to oleic acid GO:0071400 9.51 ASS1 CPS1
20 response to amine GO:0014075 9.5 ARG1 ASS1 CPS1
21 anion homeostasis GO:0055081 9.48 CPS1 OTC
22 response to zinc ion GO:0010043 9.46 ARG1 ASS1 CPS1 OTC
23 midgut development GO:0007494 9.43 ASS1 CPS1 OTC
24 urea cycle GO:0000050 9.43 ARG1 ASL ASS1 CPS1 NAGS OTC
25 arginine biosynthetic process GO:0006526 9.02 ASL ASS1 CPS1 NAGS OTC

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

# Name GO ID Score Top Affiliating Genes
1 ligase activity GO:0016874 9.16 ASS1 CPS1
2 phospholipid binding GO:0005543 8.96 CPS1 OTC
3 amino acid binding GO:0016597 8.62 ASS1 OTC

Sources for Argininemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....