ARGIN
MCID: ARG007
MIFTS: 58

Argininemia (ARGIN)

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

Aliases & Classifications for Argininemia

MalaCards integrated aliases for Argininemia:

Name: Argininemia 57 12 20 43 58 72 13 39
Hyperargininemia 57 12 25 20 43 58 72 36 54 44 15 70
Arginase Deficiency 57 12 73 25 20 43 58 72 29 6
Arg1 Deficiency 57 25 20 43 72
Arginase-1 Deficiency 25 72
Arginase Deficiency Disease 43
Deficiency of Canavanase 12
Argin 72

Characteristics:

Orphanet epidemiological data:

58
argininemia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Europe); Age of onset: Childhood,Infancy;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
argininemia:
Inheritance autosomal recessive inheritance
Onset and clinical course childhood onset neonatal onset


Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:9278
OMIM® 57 207800
KEGG 36 H00186
MeSH 44 D020162
NCIt 50 C84568
SNOMED-CT 67 23501004
ICD10 32 E72.21
MESH via Orphanet 45 D020162
ICD10 via Orphanet 33 E72.2
UMLS via Orphanet 71 C0268548
Orphanet 58 ORPHA90
MedGen 41 C0268548
UMLS 70 C0268548

Summaries for Argininemia

MedlinePlus Genetics : 43 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.Arginase deficiency usually becomes evident by about the age of 3. It most often appears as stiffness, especially in the legs, caused by abnormal tensing of the muscles (spasticity). Other symptoms may include slower than normal growth, developmental delay and eventual loss of developmental milestones, intellectual disability, seizures, tremor, and difficulty with balance and coordination (ataxia). Occasionally, high protein meals or stress caused by illness or periods without food (fasting) may cause ammonia to accumulate more quickly in the blood. This rapid increase in ammonia may lead to episodes of irritability, refusal to eat, and vomiting.In some affected individuals, signs and symptoms of arginase deficiency may be less severe, and may not appear until later in life.

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 Liver Extracts have been mentioned in the context of this disorder. Affiliated tissues include liver, brain and cortex, and related phenotypes are neurological speech impairment and global developmental delay

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

GARD : 20 Arginase deficiency is an inherited metabolic 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.

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) (Updated 20-May-2021)

KEGG : 36 Hyperargininemia is an autosomal recessive disorder caused by a defect in the arginase I enzyme resulting in high plasma arginine and ammonia levels, that develops encephalopathy.

UniProtKB/Swiss-Prot : 72 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 : 73 Argininemia, is an autosomal recessive urea cycle disorder where a deficiency of the enzyme arginase... more...

GeneReviews: NBK1159

Related Diseases for Argininemia

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

(show top 50) (show all 99)
# Related Disease Score Top Affiliating Genes
1 carbamoyl phosphate synthetase i deficiency, hyperammonemia due to 31.5 SLC25A15 OTC NAGS CPS1 ASS1
2 ornithine transcarbamylase deficiency, hyperammonemia due to 31.0 SLC25A15 SLC25A13 OTC NAGS CPS1 ASS1
3 argininosuccinic aciduria 30.2 SLC7A7 SLC25A15 SLC25A13 OTC NAGS GAMT
4 carbonic anhydrase va deficiency, hyperammonemia due to 30.1 SLC25A15 SLC25A13 OTC NAGS CPS1 ASS1
5 cerebral creatine deficiency syndrome 2 29.7 OAT GAMT
6 orotic aciduria 29.1 SLC7A7 OTC OAT NAGS CPS1 ASS1
7 phenylketonuria 28.7 QDPR PRODH PAH OTC HADHA ASS1
8 citrullinemia, classic 28.5 SLC7A7 SLC25A15 SLC25A13 OTC NAGS HADHA
9 urea cycle disorder 28.1 SLC7A7 SLC25A15 SLC25A13 PRODH PAH OTC
10 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 28.1 SLC25A29 SLC25A15 SLC25A13 OTC OAT NAGS
11 mental retardation, autosomal recessive 18 10.3 MED23 ARG1
12 postpartum psychosis 10.3 OTC ASS1
13 spastic diplegia 10.2
14 spastic paraplegia 9b, autosomal recessive 10.2 OTC ALDH18A1
15 spastic paraplegia 9a, autosomal dominant 10.2 OTC ALDH18A1
16 tyrosinemia, type i 10.2 OTC NAGS ASL
17 quadriplegia 10.2
18 hyperprolinemia, type ii 10.2 PRODH ALDH18A1
19 spasticity 10.1
20 classic phenylketonuria 10.1 QDPR PAH
21 gamma-amino butyric acid metabolism disorder 10.1 PRODH ALDH18A1
22 isovaleric acidemia 10.1 NAGS HADHA CPS1
23 alacrima, achalasia, and mental retardation syndrome 10.1
24 3-methylcrotonyl-coa carboxylase deficiency 10.1 SLC25A13 PRODH HADHA
25 mild hyperphenylalaninemia 10.1 QDPR PAH
26 hyperprolinemia, type i 10.1 PRODH OAT
27 cerebral palsy 10.1
28 spastic paraparesis 10.1
29 glutathione synthetase deficiency 10.1 QDPR PRODH
30 aminoaciduria 10.1
31 encephalopathy 10.1
32 hyperphenylalaninemia, bh4-deficient, a 10.0 QDPR PAH
33 cholestasis 10.0
34 inherited metabolic disorder 10.0
35 ornithinemia 10.0
36 cerebral atrophy 10.0
37 3-hydroxyacyl-coa dehydrogenase deficiency 10.0 HADHA ACADM
38 liver disease 10.0
39 uremia 10.0
40 ocular motor apraxia 10.0
41 paraplegia 10.0
42 neu-laxova syndrome 2 10.0 OAT NAGS ALDH18A1
43 organic acidemia 10.0 PRODH NAGS ACADM
44 cerebral creatine deficiency syndrome 10.0 OAT GAMT
45 pyrimidine metabolic disorder 10.0 SLC7A7 OTC NAGS ASS1 ASL
46 glycine encephalopathy 9.9 SLC7A7 PRODH NAGS GAMT
47 multiple carboxylase deficiency 9.9 OTC HADHA ACADM
48 tyrosinemia, type ii 9.9 NAGS CPS1
49 atherosclerosis susceptibility 9.9
50 strabismus 9.9

Graphical network of the top 20 diseases related to Argininemia:



Diseases related to Argininemia

Symptoms & Phenotypes for Argininemia

Human phenotypes related to Argininemia:

58 31 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 neurological speech impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0002167
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 behavioral abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0000708
4 intellectual disability, severe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010864
5 diaminoaciduria 58 31 hallmark (90%) Very frequent (99-80%) HP:0008339
6 eeg abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0002353
7 hemiplegia/hemiparesis 58 31 frequent (33%) Frequent (79-30%) HP:0004374
8 hyperammonemia 58 31 very rare (1%) Frequent (79-30%) HP:0001987
9 progressive spastic quadriplegia 58 31 frequent (33%) Frequent (79-30%) HP:0002478
10 seizure 31 frequent (33%) HP:0001250
11 hepatomegaly 31 very rare (1%) HP:0002240
12 cholestasis 31 very rare (1%) HP:0001396
13 cerebellar atrophy 31 very rare (1%) HP:0001272
14 frequent falls 31 very rare (1%) HP:0002359
15 spastic gait 31 very rare (1%) HP:0002064
16 episodic vomiting 31 very rare (1%) HP:0002572
17 micronodular cirrhosis 31 very rare (1%) HP:0001413
18 portal fibrosis 31 very rare (1%) HP:0006580
19 hyperargininemia 31 very rare (1%) HP:0500153
20 intellectual disability 31 HP:0001249
21 seizures 58 Frequent (79-30%)
22 vomiting 31 HP:0002013
23 postnatal growth retardation 31 HP:0008897
24 irritability 31 HP:0000737
25 anorexia 31 HP:0002039
26 oroticaciduria 31 HP:0003218
27 spastic paraparesis 31 HP:0002313
28 hyperactivity 31 HP:0000752

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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
hyperargininemia
diaminoaciduria (argininuria, lysinuria, cystinuria, ornithinuria)
orotic aciduria
pyrimidinuria
more
Metabolic Features:
protein intolerance

Clinical features from OMIM®:

207800 (Updated 20-May-2021)

UMLS symptoms related to Argininemia:


seizures; vomiting

GenomeRNAi Phenotypes related to Argininemia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00249-S 9.6 ACADM ARG2 PRODH SLC25A15 SLC25A29 SLC7A7
2 Decreased viability GR00381-A-1 9.6 MED23 OAT PRODH SLC7A7
3 Decreased viability GR00381-A-2 9.6 SLC7A7
4 Decreased viability GR00386-A-1 9.6 ACADM ARG2 HADHA MED23 SLC25A13
5 Decreased viability GR00402-S-2 9.6 ACADM ALDH18A1 SLC7A7

MGI Mouse Phenotypes related to Argininemia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.16 ACADM ARG1 ARG2 ASL ASS1 CPS1
2 behavior/neurological MP:0005386 10.1 ASL ASS1 CPS1 GAMT NAGS OAT
3 mortality/aging MP:0010768 9.89 ACADM ALDH18A1 ARG1 ASL ASS1 CPS1
4 integument MP:0010771 9.85 ACADM ALDH18A1 ASL ASS1 NAGS OAT
5 renal/urinary system MP:0005367 9.28 ASL GAMT HADHA OAT OTC PAH

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 Liver Extracts
3 Vaccines

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 PEACE (Pegzilarginase Effect on Arginase 1 Deficiency Clinical Endpoints): A Randomized, Double-blind, Placebo-controlled Phase 3 Study of the Efficacy and Safety of Pegzilarginase in Children and Adults With Arginase 1 Deficiency Recruiting NCT03921541 Phase 3 Pegzilarginase;Placebo;Pegzilarginase
2 A Phase 1/2 Open-label Study in Patients With Arginase I Deficiency to Investigate the Safety, Pharmacokinetics, and Pharmacodynamics of Intravenous AEB1102 Completed NCT02488044 Phase 1, Phase 2 AEB1102
3 An Open-label, Multicentre Extension Study to Evaluate the Long-Term Safety, Tolerability and Effects of Intravenous AEB1102 in Patients With Arginase I Deficiency Who Previously Received Treatment in Study CAEB1102-101A Active, not recruiting NCT03378531 Phase 2 AEB1102
4 Noninvasive Biomarkers of Hepatic Fibrosis in Urea Cycle Disorders Not yet recruiting NCT04612764
5 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:

40
Liver, Brain, Cortex, Cerebellum, Skeletal Muscle, Retina, Kidney

Publications for Argininemia

Articles related to Argininemia:

(show top 50) (show all 225)
# Title Authors PMID Year
1
Molecular basis of phenotypic variation in patients with argininemia. 25 57 6 61
7649538 1995
2
Three novel mutations in the liver-type arginase gene in three unrelated Japanese patients with argininemia. 57 54 6 61
1463019 1992
3
Prenatal diagnosis for arginase deficiency by second-trimester fetal erythrocyte arginase assay and first-trimester ARG1 mutation analysis. 6 25 61 54
15565656 2004
4
Mouse model for human arginase deficiency. 61 6 57
12052859 2002
5
Molecular basis of argininemia. Identification of two discrete frame-shift deletions in the liver-type arginase gene. 57 6 61
2365823 1990
6
Arginase deficiency in multiple tissues in argininemia. 57 6 61
624188 1978
7
Mutations and common variants in the human arginase 1 (ARG1) gene: Impact on patients, diagnostics, and protein structure considerations. 57 25 61
29726057 2018
8
Restoring Ureagenesis in Hepatocytes by CRISPR/Cas9-mediated Genomic Addition to Arginase-deficient Induced Pluripotent Stem Cells. 6 25
27898091 2016
9
Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency. 25 6
27038030 2016
10
Hyperargininemia due to arginase I deficiency: the original patients and their natural history, and a review of the literature. 61 25 20
26123990 2015
11
Functional consequences of the G235R mutation in liver arginase leading to hyperargininemia. 6 54 61
11883902 2002
12
Identification of a novel R21X mutation in the liver-type arginase gene (ARG1) in four Portuguese patients with argininemia. 61 54 6
10502833 1999
13
Argininemia: a treatable genetic cause of progressive spastic diplegia simulating cerebral palsy: case reports and literature review. 25 61 20
9378897 1997
14
Molecular genetic study of human arginase deficiency. 54 61 6
1598908 1992
15
Characterization and mRNA expression analysis of a novel ARG1 splicing mutation causing hyperargininemia. 6 61
26169240 2015
16
[Seven patients of argininemia with spastic tetraplegia as the first and major symptom and prenatal diagnosis of two fetuses with high risk]. 6 61
26310552 2015
17
Novel complex re-arrangement of ARG1 commonly shared by unrelated patients with hyperargininemia. 61 6
24103480 2014
18
Five novel mutations in ARG1 gene in Chinese patients of argininemia. 6 61
23859858 2013
19
Analysis of novel ARG1 mutations causing hyperargininemia and correlation with arginase I activity in erythrocytes. 61 6
22959135 2012
20
Arginase I deficiency: severe infantile presentation with hyperammonemia: more common than reported? 61 6
21802329 2011
21
Argininemia presenting with progressive spastic diplegia. 6 61
21310339 2011
22
Increased plasma and tissue guanidino compounds in a mouse model of hyperargininemia. 57 61
17997338 2008
23
Clinical, biochemical, and molecular spectrum of hyperargininemia due to arginase I deficiency. 54 61 25
16602094 2006
24
Hyperargininemia due to liver arginase deficiency. 25 54 61
15694174 2005
25
Identification of mutations (D128G, H141L) in the liver arginase gene of patients with hyperargininemia. 6 61
7981719 1994
26
[Late diagnosis of congenital argininemia during administration of sodium valproate]. 57 61
2291040 1990
27
Differential expression of the two human arginase genes in hyperargininemia. Enzymatic, pathologic, and molecular analysis. 61 57
2913054 1989
28
Treatment of hyperargininemia with sodium benzoate and arginine-restricted diet. 61 57
6707802 1984
29
Immunologic studies of arginase in tissues of normal human adult and arginase-deficient patients. 57 61
6419196 1983
30
Argininemia treated from birth. 61 6
480013 1979
31
Human hyperargininemia: a mutation not expressed in skin fibroblasts? 61 57
879168 1977
32
Argininemia. 57 61
839367 1977
33
Hyperargininemia. 57 61
839368 1977
34
Familial hyperargininemia. 61 57
4643877 1972
35
[Hyperargininemia wityh arginase deficiency. A new familial metabolic disease. I. Clinical studies]. 61 57
5438971 1970
36
Lipid nanoparticle-targeted mRNA therapy as a treatment for the inherited metabolic liver disorder arginase deficiency. 61 25
31501335 2019
37
Hyperargininemia Experiences over Last 7 Years from a Tertiary Care Center. 61 25
31316636 2019
38
Newborn screening for hyperargininemia due to arginase 1 deficiency. 61 25
28659245 2017
39
Proof-of-Concept Gene Editing for the Murine Model of Inducible Arginase-1 Deficiency. 25 61
28566761 2017
40
Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium. 25 61
27215558 2016
41
Rescue of the Functional Alterations of Motor Cortical Circuits in Arginase Deficiency by Neonatal Gene Therapy. 61 25
27335400 2016
42
A longitudinal study of urea cycle disorders. 57
25135652 2014
43
Neonatal cholestasis: an uncommon presentation of hyperargininemia. 61 25
21229317 2010
44
Inherited metabolic disorders and stroke part 2: homocystinuria, organic acidurias, and urea cycle disorders. 57
20142522 2010
45
Studies on the functional significance of a C-terminal S-shaped motif in human arginase type I: essentiality for cooperative effects. 6
18957279 2009
46
Amino acids in CSF and plasma in hyperammonaemic coma due to arginase1 deficiency. 6
19052914 2008
47
Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edema. 57
12640389 2003
48
Adult-onset arginase deficiency. 57
9762606 1998
49
Hyperargininemia presenting as persistent neonatal jaundice and hepatic cirrhosis. 61 25
9106111 1997
50
Loss of function mutations in conserved regions of the human arginase I gene. 6
8902193 1996

Variations for Argininemia

ClinVar genetic disease variations for Argininemia:

6 (show top 50) (show all 123)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ARG1 , MED23 NM_000045.4(ARG1):c.869C>G (p.Thr290Ser) SNV Pathogenic 2389 rs104893942 GRCh37: 6:131904948-131904948
GRCh38: 6:131583808-131583808
2 ARG1 , MED23 NM_000045.4(ARG1):c.365G>A (p.Trp122Ter) SNV Pathogenic 2390 rs104893947 GRCh37: 6:131902418-131902418
GRCh38: 6:131581278-131581278
3 ARG1 , MED23 NM_000045.4(ARG1):c.703G>C (p.Gly235Arg) SNV Pathogenic 2391 rs104893948 GRCh37: 6:131904532-131904532
GRCh38: 6:131583392-131583392
4 ARG1 , MED23 NM_000045.4(ARG1):c.844del (p.Leu282fs) Deletion Pathogenic 2392 rs1562361837 GRCh37: 6:131904921-131904921
GRCh38: 6:131583781-131583781
5 ARG1 NM_000045.4(ARG1):c.32T>C (p.Ile11Thr) SNV Pathogenic 2393 rs28941474 GRCh37: 6:131894454-131894454
GRCh38: 6:131573314-131573314
6 ARG1 , MED23 NM_000045.4(ARG1):c.413G>T (p.Gly138Val) SNV Pathogenic 2394 rs104893943 GRCh37: 6:131902466-131902466
GRCh38: 6:131581326-131581326
7 ARG1 NM_000045.4(ARG1):c.57+1G>A SNV Pathogenic 2395 rs587776539 GRCh37: 6:131894480-131894480
GRCh38: 6:131573340-131573340
8 ARG1 ARG1, IVS4AS, A-G, -2 SNV Pathogenic 2396 GRCh37:
GRCh38:
9 ARG1 , MED23 NM_000045.4(ARG1):c.61C>T (p.Arg21Ter) SNV Pathogenic 2397 rs104893944 GRCh37: 6:131897806-131897806
GRCh38: 6:131576666-131576666
10 ARG1 ARG1, 4-BP DEL, 262AAGA Deletion Pathogenic 2386 GRCh37:
GRCh38:
11 ARG1 ARG1, 1-BP DEL, NT72 Deletion Pathogenic 2387 GRCh37:
GRCh38:
12 ARG1 , MED23 NM_000045.4(ARG1):c.938del (p.Lys313fs) Deletion Pathogenic 459925 rs1554251356 GRCh37: 6:131905016-131905016
GRCh38: 6:131583876-131583876
13 ARG1 , MED23 NM_000045.4(ARG1):c.466-1G>C SNV Pathogenic 419876 rs1064794165 GRCh37: 6:131903760-131903760
GRCh38: 6:131582620-131582620
14 ARG1 , MED23 NM_000045.4(ARG1):c.703G>A (p.Gly235Arg) SNV Pathogenic 419417 rs104893948 GRCh37: 6:131904532-131904532
GRCh38: 6:131583392-131583392
15 ARG1 , MED23 NM_000045.4(ARG1):c.189del (p.Gln65fs) Deletion Pathogenic 578126 rs1562356664 GRCh37: 6:131900307-131900307
GRCh38: 6:131579167-131579167
16 ARG1 , MED23 NM_000045.4(ARG1):c.383A>G (p.Asp128Gly) SNV Pathogenic 632472 rs140549609 GRCh37: 6:131902436-131902436
GRCh38: 6:131581296-131581296
17 ARG1 , MED23 NM_000045.4(ARG1):c.809_810TC[1] (p.Ser271fs) Microsatellite Pathogenic 650567 rs1585429783 GRCh37: 6:131904887-131904888
GRCh38: 6:131583747-131583748
18 ARG1 , MED23 NM_000045.4(ARG1):c.425del (p.Gly142fs) Deletion Pathogenic 657467 rs1585420294 GRCh37: 6:131902477-131902477
GRCh38: 6:131581337-131581337
19 ARG1 , MED23 NC_000006.12:g.(?_131576653)_(131583918_?)del Deletion Pathogenic 657915 GRCh37: 6:131897793-131905058
GRCh38: 6:131576653-131583918
20 ARG1 , MED23 NM_000045.4(ARG1):c.336dup (p.Arg113fs) Duplication Pathogenic 839881 GRCh37: 6:131902387-131902388
GRCh38: 6:131581247-131581248
21 ARG1 , MED23 NM_000045.4(ARG1):c.142A>T (p.Lys48Ter) SNV Pathogenic 847351 GRCh37: 6:131900262-131900262
GRCh38: 6:131579122-131579122
22 ARG1 , MED23 NM_000045.4(ARG1):c.464dup (p.Ile156fs) Duplication Pathogenic 852613 GRCh37: 6:131902514-131902515
GRCh38: 6:131581374-131581375
23 ARG1 , MED23 NM_000045.4(ARG1):c.646_649del (p.Leu216fs) Deletion Pathogenic 802269 rs756080885 GRCh37: 6:131904283-131904286
GRCh38: 6:131583143-131583146
24 ARG1 , MED23 NM_000045.4(ARG1):c.839del (p.Pro280fs) Deletion Pathogenic 1064873 GRCh37: 6:131904916-131904916
GRCh38: 6:131583776-131583776
25 ARG1 , MED23 NM_000045.4(ARG1):c.871C>T (p.Arg291Ter) SNV Pathogenic/Likely pathogenic 2388 rs104893940 GRCh37: 6:131904950-131904950
GRCh38: 6:131583810-131583810
26 ARG1 , MED23 NM_000045.4(ARG1):c.58-2A>C SNV Likely pathogenic 549899 rs1554250040 GRCh37: 6:131897801-131897801
GRCh38: 6:131576661-131576661
27 ARG1 , MED23 NM_000045.4(ARG1):c.272dup (p.Arg92fs) Duplication Likely pathogenic 203606 rs796051923 GRCh37: 6:131900390-131900391
GRCh38: 6:131579250-131579251
28 ARG1 NM_000045.4(ARG1):c.3G>A (p.Met1Ile) SNV Likely pathogenic 645245 rs745624953 GRCh37: 6:131894425-131894425
GRCh38: 6:131573285-131573285
29 ARG1 , MED23 NM_000045.4(ARG1):c.693del (p.Phe231fs) Deletion Likely pathogenic 558545 rs1554251191 GRCh37: 6:131904519-131904519
GRCh38: 6:131583379-131583379
30 ARG1 , MED23 NM_000045.4(ARG1):c.640_643dup (p.Thr215fs) Duplication Likely pathogenic 553543 rs1554251158 GRCh37: 6:131904276-131904277
GRCh38: 6:131583136-131583137
31 ARG1 , MED23 NM_000045.4(ARG1):c.372dup (p.Ala125fs) Duplication Likely pathogenic 553898 rs776939220 GRCh37: 6:131902424-131902425
GRCh38: 6:131581284-131581285
32 ARG1 , MED23 NM_000045.4(ARG1):c.874del (p.Thr292fs) Deletion Likely pathogenic 554834 rs771395982 GRCh37: 6:131904952-131904952
GRCh38: 6:131583812-131583812
33 ARG1 , MED23 NM_000045.4(ARG1):c.130+1G>T SNV Likely pathogenic 555785 rs113767658 GRCh37: 6:131897876-131897876
GRCh38: 6:131576736-131576736
34 ARG1 NM_000045.4(ARG1):c.2T>C (p.Met1Thr) SNV Likely pathogenic 555971 rs1554249332 GRCh37: 6:131894424-131894424
GRCh38: 6:131573284-131573284
35 ARG1 , MED23 NM_000045.4(ARG1):c.466-2A>G SNV Likely pathogenic 557567 rs1554251045 GRCh37: 6:131903759-131903759
GRCh38: 6:131582619-131582619
36 ARG1 , MED23 NM_000045.4(ARG1):c.129del (p.Glu44fs) Deletion Likely pathogenic 557931 rs1169538148 GRCh37: 6:131897873-131897873
GRCh38: 6:131576733-131576733
37 ARG1 , MED23 NM_000045.4(ARG1):c.787G>T (p.Glu263Ter) SNV Likely pathogenic 557951 rs747579073 GRCh37: 6:131904616-131904616
GRCh38: 6:131583476-131583476
38 ARG1 , MED23 NM_000045.4(ARG1):c.131-1G>C SNV Likely pathogenic 837901 GRCh37: 6:131900250-131900250
GRCh38: 6:131579110-131579110
39 ARG1 , MED23 NM_000045.4(ARG1):c.317G>A (p.Gly106Glu) SNV Likely pathogenic 802267 rs1441486160 GRCh37: 6:131902370-131902370
GRCh38: 6:131581230-131581230
40 ARG1 , MED23 NM_000045.4(ARG1):c.404C>T (p.Thr135Ile) SNV Likely pathogenic 802268 rs1451472748 GRCh37: 6:131902457-131902457
GRCh38: 6:131581317-131581317
41 ARG1 NM_000045.4(ARG1):c.30del (p.Ile11fs) Deletion Likely pathogenic 992369 GRCh37: 6:131894451-131894451
GRCh38: 6:131573311-131573311
42 ARG1 , MED23 NM_000045.4(ARG1):c.370G>T (p.Asp124Tyr) SNV Likely pathogenic 1030551 GRCh37: 6:131902423-131902423
GRCh38: 6:131581283-131581283
43 ARG1 , MED23 NM_000045.4(ARG1):c.892G>C (p.Ala298Pro) SNV Conflicting interpretations of pathogenicity 419034 rs755359126 GRCh37: 6:131904971-131904971
GRCh38: 6:131583831-131583831
44 ARG1 , MED23 NM_000045.4(ARG1):c.75A>G (p.Glu25=) SNV Conflicting interpretations of pathogenicity 355318 rs755973004 GRCh37: 6:131897820-131897820
GRCh38: 6:131576680-131576680
45 ARG1 , MED23 NM_000045.4(ARG1):c.923G>A (p.Arg308Gln) SNV Conflicting interpretations of pathogenicity 550679 rs377280518 GRCh37: 6:131905002-131905002
GRCh38: 6:131583862-131583862
46 ARG1 , MED23 NM_000045.4(ARG1):c.944T>C (p.Ile315Thr) SNV Conflicting interpretations of pathogenicity 355321 rs202219126 GRCh37: 6:131905023-131905023
GRCh38: 6:131583883-131583883
47 ARG1 NM_000045.3(ARG1):c.-70A>G SNV Uncertain significance 355314 rs192353153 GRCh37: 6:131894353-131894353
GRCh38: 6:131573213-131573213
48 ARG1 , MED23 NM_000045.4(ARG1):c.305+7T>C SNV Uncertain significance 355319 rs886061060 GRCh37: 6:131900432-131900432
GRCh38: 6:131579292-131579292
49 ARG1 , MED23 NM_000045.4(ARG1):c.*73A>G SNV Uncertain significance 355322 rs886061062 GRCh37: 6:131905121-131905121
GRCh38: 6:131583981-131583981
50 ARG1 NM_000045.4(ARG1):c.-21A>C SNV Uncertain significance 355316 rs370747314 GRCh37: 6:131894402-131894402
GRCh38: 6:131573262-131573262

UniProtKB/Swiss-Prot genetic disease variations for Argininemia:

72
# 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

Expression for Argininemia

Search GEO for disease gene expression data for Argininemia.

Pathways for Argininemia

Pathways related to Argininemia according to KEGG:

36
# 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
13.93 SLC25A15 SLC25A13 QDPR PRODH PAH OTC
2
Show member pathways
13.69 SLC25A15 QDPR PRODH PAH OTC OAT
3
Show member pathways
12.24 PAH OTC NAGS CPS1 ASS1 ASL
4
Show member pathways
11.78 QDPR PRODH PAH
5 11.72 OTC OAT CPS1 ASS1 ARG2 ARG1
6
Show member pathways
11.61 PRODH OAT GAMT ARG2 ARG1 ALDH18A1
7 11.18 CPS1 ASS1 ASL
8
Show member pathways
10.93 OTC NAGS CPS1 ASS1 ASL ARG2
9
Show member pathways
10.7 OTC OAT NAGS GAMT CPS1 ASS1
10
Show member pathways
10.61 ASS1 ASL
11
Show member pathways
10.48 OAT ALDH18A1
12
Show member pathways
10.46 HADHA ACADM

GO Terms for Argininemia

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 9.7 PRODH OTC OAT NAGS CPS1 ARG2
2 mitochondrial inner membrane GO:0005743 9.56 SLC25A29 SLC25A15 SLC25A13 PRODH OTC HADHA
3 mitochondrion GO:0005739 9.44 SLC25A29 SLC25A15 SLC25A13 PRODH OTC OAT

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

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 10.08 QDPR PRODH PAH HADHA ALDH18A1 ACADM
2 response to drug GO:0042493 9.97 OTC HADHA CPS1 ASS1 ARG1
3 metabolic process GO:0008152 9.89 PAH HADHA CPS1 ALDH18A1
4 liver development GO:0001889 9.73 QDPR OTC CPS1 ASS1 ARG1 ACADM
5 response to amino acid GO:0043200 9.7 CPS1 ASS1 ARG1
6 response to steroid hormone GO:0048545 9.69 CPS1 ASS1 ARG1
7 cellular response to glucagon stimulus GO:0071377 9.67 CPS1 ASS1 ARG1
8 response to zinc ion GO:0010043 9.67 OTC CPS1 ASS1 ARG1
9 response to growth hormone GO:0060416 9.63 CPS1 ASS1
10 glutamate metabolic process GO:0006536 9.62 NAGS ALDH18A1
11 response to glucagon GO:0033762 9.62 QDPR CPS1
12 L-phenylalanine catabolic process GO:0006559 9.61 QDPR PAH
13 response to amine GO:0014075 9.61 CPS1 ASS1 ARG1
14 L-proline biosynthetic process GO:0055129 9.6 OAT ALDH18A1
15 arginine metabolic process GO:0006525 9.58 ARG2 ARG1
16 cellular response to ammonium ion GO:0071242 9.58 CPS1 ASS1
17 midgut development GO:0007494 9.58 OTC CPS1 ASS1
18 mitochondrial L-ornithine transmembrane transport GO:1990575 9.56 SLC25A29 SLC25A15
19 cellular response to oleic acid GO:0071400 9.55 CPS1 ASS1
20 arginine biosynthetic process via ornithine GO:0042450 9.54 OTC ASL
21 citrulline biosynthetic process GO:0019240 9.5 OTC CPS1 ALDH18A1
22 anion homeostasis GO:0055081 9.48 OTC CPS1
23 arginine catabolic process to ornithine GO:0019547 9.46 ARG2 ARG1
24 arginine biosynthetic process GO:0006526 9.46 OTC NAGS ASS1 ASL
25 cellular amino acid biosynthetic process GO:0008652 9.43 PAH OTC OAT ASS1 ASL ALDH18A1
26 urea cycle GO:0000050 9.23 SLC25A15 OTC NAGS CPS1 ASS1 ASL

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

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.8 QDPR PRODH PAH HADHA ALDH18A1 ACADM
2 catalytic activity GO:0003824 9.63 PAH OAT HADHA CPS1 ASL ALDH18A1
3 identical protein binding GO:0042802 9.61 SLC25A13 QDPR OTC OAT ASS1 ASL
4 amino acid binding GO:0016597 9.4 OTC ASS1
5 basic amino acid transmembrane transporter activity GO:0015174 9.37 SLC7A7 SLC25A29
6 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidines GO:0016813 9.26 ARG2 ARG1
7 arginase activity GO:0004053 8.62 ARG2 ARG1

Sources for Argininemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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