ARGIN
MCID: ARG007
MIFTS: 51

Argininemia (ARGIN)

Categories: Blood diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare 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 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 carbamoyl phosphate synthetase i deficiency, hyperammonemia due to and argininosuccinic aciduria, 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, brain and testes, and related phenotypes are seizures and neurological speech impairment

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

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.

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.

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

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 9.5 ARG1 ARG2 ASL ASS1 CPS1 NAGS
2 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 Study of AEB1102 (Pegzilarginase) in Patients With Arginase I Deficiency Recruiting NCT03378531 Phase 2 AEB1102
2 A Phase 1/2 Study of AEB1102 in Patients With Arginase I Deficiency Active, not recruiting NCT02488044 Phase 1, 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, Brain, Testes, Kidney, Cortex

Publications for Argininemia

Articles related to Argininemia:

(show all 44)
# 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
Coagulation Disturbances in Patients with Argininemia. ( 30355940 )
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
Minimal ureagenesis is necessary for survival in the murine model of hyperargininemia treated by AAV-based gene therapy. ( 25652179 )
2015
13
Hyperargininemia due to arginase I deficiency: the original patients and their natural history, and a review of the literature. ( 26123990 )
2015
14
Case Report of Argininemia: The Utility of the Arginine/Ornithine Ratio for Newborn Screening (NBS). ( 23430558 )
2013
15
Five novel mutations in ARG1 gene in Chinese patients of argininemia. ( 23859858 )
2013
16
Epilepsia Partialis Continua and Generalized Nonconvulsive Status Epilepticus during the Course of Argininemia: A Report on Two Cases. ( 24258525 )
2013
17
Liver transplantation prevents progressive neurological impairment in argininemia. ( 23559324 )
2013
18
Hyperargininemia: a family with a novel mutation in an unexpected site. ( 23430921 )
2012
19
Argininemia presenting with progressive spastic diplegia. ( 21310339 )
2011
20
Diffusion tensor imaging in arginase deficiency reveals damage to corticospinal tracts. ( 20004862 )
2010
21
Guanidino compound levels in blood, cerebrospinal fluid, and post-mortem brain material of patients with argininemia. ( 20176499 )
2010
22
A novel mutation in ARG1 gene is responsible for arginase deficiency in an Asian family. ( 19936428 )
2009
23
Neuroimaging findings in hyperargininemia. ( 18321250 )
2008
24
Hyperargininemia due to liver arginase deficiency. ( 15694174 )
2005
25
Prenatal diagnosis for arginase deficiency by second-trimester fetal erythrocyte arginase assay and first-trimester ARG1 mutation analysis. ( 15565656 )
2004
26
Identification of a novel R21X mutation in the liver-type arginase gene (ARG1) in four Portuguese patients with argininemia. ( 10502833 )
1999
27
In vitro inhibition of Na+,K(+)-ATPase activity from rat cerebral cortex by guanidino compounds accumulating in hyperargininemia. ( 10446319 )
1999
28
The human arginases and arginase deficiency. ( 9686347 )
1998
29
Argininemia: a treatable genetic cause of progressive spastic diplegia simulating cerebral palsy: case reports and literature review. ( 9378897 )
1997
30
Molecular basis of phenotypic variation in patients with argininemia. ( 7649538 )
1995
31
Arginase Deficiency ( 20301338 )
1993
32
Arginase deficiency manifesting delayed clinical sequelae and induction of a kidney arginase isozyme. ( 8454280 )
1993
33
Three novel mutations in the liver-type arginase gene in three unrelated Japanese patients with argininemia. ( 1463019 )
1992
34
Molecular genetic study of human arginase deficiency. ( 1598908 )
1992
35
Molecular basis of argininemia. Identification of two discrete frame-shift deletions in the liver-type arginase gene. ( 2365823 )
1990
36
Argininemia. ( 2638334 )
1989
37
A successful trial of enzyme replacement therapy in a case of argininemia. ( 6729810 )
1984
38
Clinical and biochemical findings in argininemia. ( 7164891 )
1982
39
Argininemia: report of a new case and mechanisms of orotic aciduria and hyperammonemia. ( 7164892 )
1982
40
Hyperargininemia with arginase deficiency. ( 481955 )
1979
41
Argininemia treated from birth. ( 480013 )
1979
42
Arginase deficiency in multiple tissues in argininemia. ( 624188 )
1978
43
Argininemia. ( 839367 )
1977
44
A simple screening test for arginase deficiency (hyperargininemia). ( 845487 )
1977

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 top 50) (show all 124)
# Gene Variation Type Significance SNP ID Assembly Location
1 ARG1 ARG1, IVS4AS, A-G, -2 single nucleotide variant Pathogenic
2 ARG1 ARG1, 4-BP DEL deletion Pathogenic
3 ARG1 ARG1, 1-BP DEL deletion Pathogenic
4 ARG1 NM_000045.3(ARG1): c.871C> T (p.Arg291Ter) single nucleotide variant Pathogenic/Likely pathogenic rs104893940 GRCh37 Chromosome 6, 131904950: 131904950
5 ARG1 NM_000045.3(ARG1): c.871C> T (p.Arg291Ter) single nucleotide variant Pathogenic/Likely pathogenic rs104893940 GRCh38 Chromosome 6, 131583810: 131583810
6 ARG1 NM_000045.3(ARG1): c.869C> G (p.Thr290Ser) single nucleotide variant Pathogenic rs104893942 GRCh37 Chromosome 6, 131904948: 131904948
7 ARG1 NM_000045.3(ARG1): c.869C> G (p.Thr290Ser) single nucleotide variant Pathogenic rs104893942 GRCh38 Chromosome 6, 131583808: 131583808
8 ARG1 NM_000045.3(ARG1): c.365G> A (p.Trp122Ter) single nucleotide variant Pathogenic rs104893947 GRCh37 Chromosome 6, 131902418: 131902418
9 ARG1 NM_000045.3(ARG1): c.365G> A (p.Trp122Ter) single nucleotide variant Pathogenic rs104893947 GRCh38 Chromosome 6, 131581278: 131581278
10 ARG1 NM_000045.3(ARG1): c.703G> C (p.Gly235Arg) single nucleotide variant Pathogenic rs104893948 GRCh37 Chromosome 6, 131904532: 131904532
11 ARG1 NM_000045.3(ARG1): c.703G> C (p.Gly235Arg) single nucleotide variant Pathogenic rs104893948 GRCh38 Chromosome 6, 131583392: 131583392
12 ARG1 NM_000045.3: c.844delC deletion Pathogenic
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 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; MED23 NM_000045.3(ARG1): c.270C> T (p.Asn90=) single nucleotide variant Benign/Likely benign rs34504481 GRCh37 Chromosome 6, 131900390: 131900390
22 ARG1; MED23 NM_000045.3(ARG1): c.270C> T (p.Asn90=) single nucleotide variant Benign/Likely benign rs34504481 GRCh38 Chromosome 6, 131579250: 131579250
23 ARG1 NM_000045.3(ARG1): c.272dupG (p.Arg92Lysfs) duplication Pathogenic/Likely pathogenic rs796051923 GRCh38 Chromosome 6, 131579252: 131579252
24 ARG1 NM_000045.3(ARG1): c.272dupG (p.Arg92Lysfs) duplication Pathogenic/Likely pathogenic rs796051923 GRCh37 Chromosome 6, 131900392: 131900392
25 ARG1 NM_000045.3(ARG1): c.-70A> G single nucleotide variant Uncertain significance rs192353153 GRCh38 Chromosome 6, 131573213: 131573213
26 ARG1 NM_000045.3(ARG1): c.-70A> G single nucleotide variant Uncertain significance rs192353153 GRCh37 Chromosome 6, 131894353: 131894353
27 ARG1 NM_000045.3(ARG1): c.57G> A (p.Gln19=) single nucleotide variant Uncertain significance rs150766204 GRCh37 Chromosome 6, 131894479: 131894479
28 ARG1 NM_000045.3(ARG1): c.57G> A (p.Gln19=) single nucleotide variant Uncertain significance rs150766204 GRCh38 Chromosome 6, 131573339: 131573339
29 ARG1 NM_000045.3(ARG1): c.*73A> G single nucleotide variant Uncertain significance rs886061062 GRCh37 Chromosome 6, 131905121: 131905121
30 ARG1 NM_000045.3(ARG1): c.*73A> G single nucleotide variant Uncertain significance rs886061062 GRCh38 Chromosome 6, 131583981: 131583981
31 ARG1 NM_000045.3(ARG1): c.-65C> T single nucleotide variant Likely benign rs17788484 GRCh37 Chromosome 6, 131894358: 131894358
32 ARG1 NM_000045.3(ARG1): c.-65C> T single nucleotide variant Likely benign rs17788484 GRCh38 Chromosome 6, 131573218: 131573218
33 ARG1 NM_000045.3(ARG1): c.-21A> C single nucleotide variant Uncertain significance rs370747314 GRCh37 Chromosome 6, 131894402: 131894402
34 ARG1 NM_000045.3(ARG1): c.-21A> C single nucleotide variant Uncertain significance rs370747314 GRCh38 Chromosome 6, 131573262: 131573262
35 ARG1 NM_000045.3(ARG1): c.305+7T> C single nucleotide variant Uncertain significance rs886061060 GRCh37 Chromosome 6, 131900432: 131900432
36 ARG1 NM_000045.3(ARG1): c.305+7T> C single nucleotide variant Uncertain significance rs886061060 GRCh38 Chromosome 6, 131579292: 131579292
37 ARG1 NM_000045.3(ARG1): c.566T> A (p.Ile189Asn) single nucleotide variant Uncertain significance rs886061061 GRCh37 Chromosome 6, 131904205: 131904205
38 ARG1 NM_000045.3(ARG1): c.566T> A (p.Ile189Asn) single nucleotide variant Uncertain significance rs886061061 GRCh38 Chromosome 6, 131583065: 131583065
39 ARG1 NM_000045.3(ARG1): c.*310A> G single nucleotide variant Uncertain significance rs142812031 GRCh37 Chromosome 6, 131905358: 131905358
40 ARG1 NM_000045.3(ARG1): c.*310A> G single nucleotide variant Uncertain significance rs142812031 GRCh38 Chromosome 6, 131584218: 131584218
41 ARG1 NM_000045.3(ARG1): c.75A> G (p.Glu25=) single nucleotide variant Conflicting interpretations of pathogenicity rs755973004 GRCh37 Chromosome 6, 131897820: 131897820
42 ARG1 NM_000045.3(ARG1): c.75A> G (p.Glu25=) single nucleotide variant Conflicting interpretations of pathogenicity rs755973004 GRCh38 Chromosome 6, 131576680: 131576680
43 ARG1 NM_000045.3(ARG1): c.944T> C (p.Ile315Thr) single nucleotide variant Uncertain significance rs202219126 GRCh37 Chromosome 6, 131905023: 131905023
44 ARG1 NM_000045.3(ARG1): c.944T> C (p.Ile315Thr) single nucleotide variant Uncertain significance rs202219126 GRCh38 Chromosome 6, 131583883: 131583883
45 ARG1 NM_000045.3(ARG1): c.466-1G> C single nucleotide variant Pathogenic rs1064794165 GRCh38 Chromosome 6, 131582620: 131582620
46 ARG1 NM_000045.3(ARG1): c.466-1G> C single nucleotide variant Pathogenic rs1064794165 GRCh37 Chromosome 6, 131903760: 131903760
47 ARG1 NM_000045.3(ARG1): c.703G> A (p.Gly235Arg) single nucleotide variant Pathogenic/Likely pathogenic rs104893948 GRCh38 Chromosome 6, 131583392: 131583392
48 ARG1 NM_000045.3(ARG1): c.703G> A (p.Gly235Arg) single nucleotide variant Pathogenic/Likely pathogenic rs104893948 GRCh37 Chromosome 6, 131904532: 131904532
49 ARG1 NM_000045.3(ARG1): c.892G> C (p.Ala298Pro) single nucleotide variant Uncertain significance rs755359126 GRCh38 Chromosome 6, 131583831: 131583831
50 ARG1 NM_000045.3(ARG1): c.892G> C (p.Ala298Pro) single nucleotide variant Uncertain significance rs755359126 GRCh37 Chromosome 6, 131904971: 131904971

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:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.8 ARG1 ARG2 ASL ASS1 CPS1 NAGS
2
Show member pathways
13.58 ARG1 ARG2 ASL ASS1 CPS1 NAGS
3
Show member pathways
13.32 ARG1 ARG2 ASL ASS1 CPS1 NAGS
4 12.14 ARG1 ARG2 ASS1
5
Show member pathways
12.02 ARG1 ARG2 ASL ASS1 CPS1 NAGS
6 11.61 ARG1 ARG2 ASS1 CPS1 OTC
7 11.49 ARG1 ARG2
8
Show member pathways
11.25 ARG1 ARG2
9 11.04 ASL ASS1 CPS1
10
Show member pathways
10.91 ARG1 ARG2 ASL ASS1 CPS1 NAGS
11
Show member pathways
10.55 ASL ASS1
12
Show member pathways
10.55 ARG1 ARG2 ASL ASS1 CPS1 NAGS

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 9.35 ARG2 ASS1 CPS1 NAGS OTC
2 mitochondrial matrix GO:0005759 8.92 ARG2 CPS1 NAGS OTC

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

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.86 ARG1 ASS1 CPS1 OTC
2 response to lipopolysaccharide GO:0032496 9.76 ARG1 ASS1 CPS1
3 cellular amino acid biosynthetic process GO:0008652 9.69 ASL ASS1 OTC
4 liver development GO:0001889 9.67 ARG1 ASS1 CPS1 OTC
5 response to toxic substance GO:0009636 9.63 ASS1 CPS1
6 response to amino acid GO:0043200 9.63 ARG1 ASS1 CPS1
7 response to glucocorticoid GO:0051384 9.62 ASS1 CPS1
8 response to peptide hormone GO:0043434 9.62 ARG1 ASS1
9 cellular response to cAMP GO:0071320 9.61 ASS1 CPS1
10 cellular amino acid metabolic process GO:0006520 9.61 ASL OTC
11 response to steroid hormone GO:0048545 9.61 ARG1 ASS1 CPS1
12 cellular response to dexamethasone stimulus GO:0071549 9.6 ARG1 ASS1
13 protein homotrimerization GO:0070207 9.59 ARG1 OTC
14 response to growth hormone GO:0060416 9.58 ASS1 CPS1
15 cellular response to glucagon stimulus GO:0071377 9.58 ARG1 ASS1 CPS1
16 arginine metabolic process GO:0006525 9.57 ARG1 ARG2
17 citrulline biosynthetic process GO:0019240 9.55 CPS1 OTC
18 arginine biosynthetic process via ornithine GO:0042450 9.54 ASL OTC
19 cellular response to oleic acid GO:0071400 9.52 ASS1 CPS1
20 response to amine GO:0014075 9.5 ARG1 ASS1 CPS1
21 urea cycle GO:0000050 9.5 ARG1 ARG2 ASL ASS1 CPS1 NAGS
22 anion homeostasis GO:0055081 9.49 CPS1 OTC
23 arginine catabolic process to ornithine GO:0019547 9.48 ARG1 ARG2
24 response to zinc ion GO:0010043 9.46 ARG1 ASS1 CPS1 OTC
25 midgut development GO:0007494 9.43 ASS1 CPS1 OTC
26 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 phospholipid binding GO:0005543 9.32 CPS1 OTC
2 manganese ion binding GO:0030145 9.26 ARG1 ARG2
3 amino acid binding GO:0016597 9.16 ASS1 OTC
4 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidines GO:0016813 8.96 ARG1 ARG2
5 arginase activity GO:0004053 8.62 ARG1 ARG2

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
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