ARGIN
MCID: ARG007
MIFTS: 57

Argininemia (ARGIN)

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

Aliases & Classifications for Argininemia

MalaCards integrated aliases for Argininemia:

Name: Argininemia 56 12 52 25 58 73 13 39
Hyperargininemia 56 12 24 52 25 58 73 36 54 43 15 71
Arginase Deficiency 56 12 74 24 52 25 58 73 29 6
Arg1 Deficiency 56 24 52 25 73
Arginase-1 Deficiency 24 73
Arginase Deficiency Disease 25
Deficiency of Canavanase 12
Argin 73

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
argininemia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:9278
OMIM 56 207800
KEGG 36 H00186
MeSH 43 D020162
NCIt 49 C84568
SNOMED-CT 67 23501004
ICD10 32 E72.21
MESH via Orphanet 44 D020162
ICD10 via Orphanet 33 E72.2
UMLS via Orphanet 72 C0268548
Orphanet 58 ORPHA90
MedGen 41 C0268548
UMLS 71 C0268548

Summaries for Argininemia

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. 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 Vaccines have been mentioned in the context of this disorder. Affiliated tissues include liver, brain and cortex, and related phenotypes are global developmental delay and behavioral abnormality

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

NIH Rare Diseases : 52 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 : 56 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)

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 : 73 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 : 74 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 126)
# Related Disease Score Top Affiliating Genes
1 carbamoyl phosphate synthetase i deficiency, hyperammonemia due to 31.6 SLC25A15 OTC NAGS CPS1 ASS1 ASL
2 ornithine transcarbamylase deficiency, hyperammonemia due to 31.2 SLC25A15 SLC25A13 OTC NAGS CPS1 ASS1
3 inherited metabolic disorder 30.0 PRODH PAH NAGS
4 carbonic anhydrase va deficiency, hyperammonemia due to 29.7 SLC25A15 SLC25A13 OTC NAGS CPS1 ASS1
5 argininosuccinic aciduria 29.4 SLC7A7 SLC25A15 SLC25A13 OTC NAGS GAMT
6 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 28.9 SLC25A15 SLC25A13 OTC NAGS CPS1 ASS1
7 orotic aciduria 28.9 SLC7A7 PRODH OTC NAGS CPS1 ASS1
8 phenylketonuria 28.2 QDPR PRODH PAH OTC HADHA ASS1
9 citrullinemia, classic 27.9 SLC7A7 SLC25A15 SLC25A13 OTC NAGS HADHA
10 urea cycle disorder 25.7 SLC7A7 SLC25A15 SLC25A13 PRODH PAH OTC
11 porphyria 10.7
12 porphyria, acute intermittent 10.5
13 quadriplegia 10.4
14 variegate porphyria 10.4
15 spastic diplegia 10.4
16 acute porphyria 10.3
17 postpartum psychosis 10.3 OTC ASS1
18 cerebral palsy 10.3
19 spastic paraparesis 10.3
20 spasticity 10.3
21 coproporphyria, hereditary 10.3
22 myelodysplastic syndrome 10.3
23 thrombophlebitis 10.3
24 cholestasis 10.2
25 ornithinemia 10.2
26 cerebral atrophy 10.2
27 uremia 10.2
28 listeriosis 10.1
29 allergic hypersensitivity disease 10.1
30 gingivitis 10.1
31 tyrosinemia, type i 10.1 OTC NAGS ASL
32 alacrima, achalasia, and mental retardation syndrome 10.1
33 spastic diplegia and mental retardation 10.1
34 ataxia and polyneuropathy, adult-onset 10.1
35 autosomal recessive disease 10.1
36 portal hypertension 10.1
37 microcephaly 10.1
38 spastic quadriplegia 10.1
39 clubfoot 10.1
40 status epilepticus 10.1
41 liver cirrhosis 10.1
42 peripheral nervous system disease 10.1
43 neuropathy 10.1
44 growth hormone deficiency 10.1
45 encephalopathy 10.1
46 triiodothyronine receptor auxiliary protein 10.0
47 diaminopentanuria 10.0
48 epilepsy 10.0
49 neonatal jaundice 10.0
50 hereditary spastic paraplegia 10.0

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 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
2 behavioral abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0000708
3 neurological speech impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0002167
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 frequent (33%) 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 intellectual disability 31 HP:0001249
12 seizures 58 Frequent (79-30%)
13 vomiting 31 HP:0002013
14 irritability 31 HP:0000737
15 postnatal growth retardation 31 HP:0008897
16 anorexia 31 HP:0002039
17 oroticaciduria 31 HP:0003218
18 hyperactivity 31 HP:0000752

Symptoms via clinical synopsis from OMIM:

56
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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.1 ARG1 ARG2 ASL ASS1 CPS1 GAMT
2 growth/size/body region MP:0005378 10.06 ASL ASS1 GAMT HADHA HLCS NAGS
3 mortality/aging MP:0010768 9.77 ARG1 ASL ASS1 CPS1 GAMT HADHA
4 integument MP:0010771 9.7 ASL ASS1 NAGS OTC PAH PRODH
5 renal/urinary system MP:0005367 9.23 ASL GAMT HADHA OTC PAH SLC25A13

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 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 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, Testes, Kidney, Cerebellum, Skin

Publications for Argininemia

Articles related to Argininemia:

(show top 50) (show all 215)
# Title Authors PMID Year
1
Molecular basis of phenotypic variation in patients with argininemia. 61 56 24 6
7649538 1995
2
Three novel mutations in the liver-type arginase gene in three unrelated Japanese patients with argininemia. 54 56 6 61
1463019 1992
3
Molecular basis of argininemia. Identification of two discrete frame-shift deletions in the liver-type arginase gene. 61 56 6
2365823 1990
4
Mutations and common variants in the human arginase 1 (ARG1) gene: Impact on patients, diagnostics, and protein structure considerations. 24 56 61
29726057 2018
5
Hyperargininemia due to arginase I deficiency: the original patients and their natural history, and a review of the literature. 24 52 61
26123990 2015
6
Identification of a novel R21X mutation in the liver-type arginase gene (ARG1) in four Portuguese patients with argininemia. 6 61 54
10502833 1999
7
Argininemia: a treatable genetic cause of progressive spastic diplegia simulating cerebral palsy: case reports and literature review. 61 52 24
9378897 1997
8
Molecular genetic study of human arginase deficiency. 6 54 61
1598908 1992
9
Increased plasma and tissue guanidino compounds in a mouse model of hyperargininemia. 56 61
17997338 2008
10
Clinical, biochemical, and molecular spectrum of hyperargininemia due to arginase I deficiency. 54 24 61
16602094 2006
11
Hyperargininemia due to liver arginase deficiency. 61 54 24
15694174 2005
12
Prenatal diagnosis for arginase deficiency by second-trimester fetal erythrocyte arginase assay and first-trimester ARG1 mutation analysis. 61 54 24
15565656 2004
13
Arginase Deficiency 6 61
20301338 2004
14
Mouse model for human arginase deficiency. 61 56
12052859 2002
15
[Late diagnosis of congenital argininemia during administration of sodium valproate]. 56 61
2291040 1990
16
Differential expression of the two human arginase genes in hyperargininemia. Enzymatic, pathologic, and molecular analysis. 56 61
2913054 1989
17
Treatment of hyperargininemia with sodium benzoate and arginine-restricted diet. 56 61
6707802 1984
18
Immunologic studies of arginase in tissues of normal human adult and arginase-deficient patients. 61 56
6419196 1983
19
Argininemia treated from birth. 6 61
480013 1979
20
Arginase deficiency in multiple tissues in argininemia. 56 61
624188 1978
21
Human hyperargininemia: a mutation not expressed in skin fibroblasts? 61 56
879168 1977
22
Argininemia. 56 61
839367 1977
23
Hyperargininemia. 61 56
839368 1977
24
Familial hyperargininemia. 56 61
4643877 1972
25
[Hyperargininemia wityh arginase deficiency. A new familial metabolic disease. I. Clinical studies]. 56 61
5438971 1970
26
Lipid nanoparticle-targeted mRNA therapy as a treatment for the inherited metabolic liver disorder arginase deficiency. 61 24
31501335 2019
27
Hyperargininemia Experiences over Last 7 Years from a Tertiary Care Center. 61 24
31316636 2019
28
Newborn screening for hyperargininemia due to arginase 1 deficiency. 61 24
28659245 2017
29
Proof-of-Concept Gene Editing for the Murine Model of Inducible Arginase-1 Deficiency. 61 24
28566761 2017
30
Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium. 24 61
27215558 2016
31
Rescue of the Functional Alterations of Motor Cortical Circuits in Arginase Deficiency by Neonatal Gene Therapy. 61 24
27335400 2016
32
A longitudinal study of urea cycle disorders. 56
25135652 2014
33
Neonatal cholestasis: an uncommon presentation of hyperargininemia. 24 61
21229317 2010
34
Inherited metabolic disorders and stroke part 2: homocystinuria, organic acidurias, and urea cycle disorders. 56
20142522 2010
35
Urea Cycle Disorders Overview 6
20301396 2003
36
Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edema. 56
12640389 2003
37
Adult-onset arginase deficiency. 56
9762606 1998
38
Hyperargininemia presenting as persistent neonatal jaundice and hepatic cirrhosis. 61 24
9106111 1997
39
Arginase deficiency presenting as cerebral palsy. 56
8474825 1993
40
A new case of hyperargininaemia: neurological and biochemical findings prior to and during dietary treatment. 56
2311630 1990
41
A new case of argininaemia without spastic diplegia in a Portuguese male. 56
2246859 1990
42
RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. 6
3658675 1987
43
Arginase deficiency in a 12-year-old boy with mild impairment of intellectual function. 56
3950825 1986
44
A new case of arginase deficiency in a Spanish male. 56
3104676 1986
45
A new French-Canadian family affected by hyperargininaemia. 56
6422160 1983
46
Properties of fetal and adult red blood cell arginase: a possible prenatal diagnostic test for arginase deficiency. 56
7361766 1980
47
Familial hyperargininaemia. 56
1124944 1975
48
Induction of arginase activity with the Shope papilloma virus in tissue culture cells from an argininemic patient. 56
4348278 1973
49
Arginase deficiency in Macaca fascicularis. I. Arginase activity and arginine concentration in erythrocytes and liver. 56
4625814 1972
50
Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision. 24
30982989 2019

Variations for Argininemia

ClinVar genetic disease variations for Argininemia:

6 (show top 50) (show all 96) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ARG1 NM_000045.4(ARG1):c.938del (p.Lys313fs)deletion Pathogenic 459925 rs1554251356 6:131905016-131905016 6:131583876-131583876
2 ARG1 NM_000045.4(ARG1):c.466-1G>CSNV Pathogenic 419876 rs1064794165 6:131903760-131903760 6:131582620-131582620
3 ARG1 NM_000045.4(ARG1):c.703G>A (p.Gly235Arg)SNV Pathogenic 419417 rs104893948 6:131904532-131904532 6:131583392-131583392
4 ARG1 NM_000045.4(ARG1):c.189del (p.Gln65fs)deletion Pathogenic 578126 rs1562356664 6:131900307-131900307 6:131579167-131579167
5 ARG1 NM_000045.4(ARG1):c.383A>G (p.Asp128Gly)SNV Pathogenic 632472 rs140549609 6:131902436-131902436 6:131581296-131581296
6 ARG1 NM_000045.4(ARG1):c.809_810TC[1] (p.Ser271fs)short repeat Pathogenic 650567 6:131904887-131904888 6:131583747-131583748
7 ARG1 NC_000006.12:g.(?_131576653)_(131583918_?)deldeletion Pathogenic 657915 6:131897793-131905058 6:131576653-131583918
8 ARG1 NM_000045.4(ARG1):c.425del (p.Gly142fs)deletion Pathogenic 657467 6:131902477-131902477 6:131581337-131581337
9 ARG1 NM_000045.4(ARG1):c.646_649del (p.Leu216fs)deletion Pathogenic 802269 6:131904283-131904286 6:131583143-131583146
10 ARG1 NM_000045.4(ARG1):c.142A>T (p.Lys48Ter)SNV Pathogenic 847351 6:131900262-131900262 6:131579122-131579122
11 ARG1 NM_000045.4(ARG1):c.336dup (p.Arg113fs)duplication Pathogenic 839881 6:131902387-131902388 6:131581247-131581248
12 ARG1 NM_000045.4(ARG1):c.464dup (p.Ile156fs)duplication Pathogenic 852613 6:131902514-131902515 6:131581374-131581375
13 ARG1 NM_000045.4(ARG1):c.869C>G (p.Thr290Ser)SNV Pathogenic 2389 rs104893942 6:131904948-131904948 6:131583808-131583808
14 ARG1 NM_000045.4(ARG1):c.365G>A (p.Trp122Ter)SNV Pathogenic 2390 rs104893947 6:131902418-131902418 6:131581278-131581278
15 ARG1 NM_000045.4(ARG1):c.703G>C (p.Gly235Arg)SNV Pathogenic 2391 rs104893948 6:131904532-131904532 6:131583392-131583392
16 ARG1 NM_000045.4(ARG1):c.844del (p.Leu282fs)deletion Pathogenic 2392 rs1562361837 6:131904921-131904921 6:131583781-131583781
17 ARG1 NM_000045.4(ARG1):c.32T>C (p.Ile11Thr)SNV Pathogenic 2393 rs28941474 6:131894454-131894454 6:131573314-131573314
18 ARG1 NM_000045.4(ARG1):c.413G>T (p.Gly138Val)SNV Pathogenic 2394 rs104893943 6:131902466-131902466 6:131581326-131581326
19 ARG1 NM_000045.4(ARG1):c.57+1G>ASNV Pathogenic 2395 rs587776539 6:131894480-131894480 6:131573340-131573340
20 ARG1 ARG1, IVS4AS, A-G, -2SNV Pathogenic 2396
21 ARG1 NM_000045.4(ARG1):c.61C>T (p.Arg21Ter)SNV Pathogenic 2397 rs104893944 6:131897806-131897806 6:131576666-131576666
22 ARG1 NM_000045.4(ARG1):c.434T>A (p.Val145Glu)SNV Pathogenic 916528 6:131902487-131902487 6:131581347-131581347
23 ARG1 ARG1, 4-BP DEL, 262AAGAdeletion Pathogenic 2386
24 ARG1 ARG1, 1-BP DEL, NT72deletion Pathogenic 2387
25 ARG1 NM_000045.4(ARG1):c.871C>T (p.Arg291Ter)SNV Pathogenic/Likely pathogenic 2388 rs104893940 6:131904950-131904950 6:131583810-131583810
26 ARG1 NM_000045.4(ARG1):c.272dup (p.Arg92fs)duplication Pathogenic/Likely pathogenic 203606 rs796051923 6:131900390-131900391 6:131579250-131579251
27 ARG1 NM_000045.4(ARG1):c.131-1G>CSNV Likely pathogenic 837901 6:131900250-131900250 6:131579110-131579110
28 ARG1 NM_000045.4(ARG1):c.317G>A (p.Gly106Glu)SNV Likely pathogenic 802267 6:131902370-131902370 6:131581230-131581230
29 ARG1 NM_000045.4(ARG1):c.404C>T (p.Thr135Ile)SNV Likely pathogenic 802268 6:131902457-131902457 6:131581317-131581317
30 ARG1 NM_000045.4(ARG1):c.3G>A (p.Met1Ile)SNV Likely pathogenic 645245 6:131894425-131894425 6:131573285-131573285
31 ARG1 NM_000045.4(ARG1):c.640_643dup (p.Thr215fs)duplication Likely pathogenic 553543 rs1554251158 6:131904276-131904277 6:131583136-131583137
32 ARG1 NM_000045.4(ARG1):c.874del (p.Thr292fs)deletion Likely pathogenic 554834 rs771395982 6:131904952-131904952 6:131583812-131583812
33 ARG1 NM_000045.4(ARG1):c.58-2A>CSNV Likely pathogenic 549899 rs1554250040 6:131897801-131897801 6:131576661-131576661
34 ARG1 NM_000045.4(ARG1):c.130+1G>TSNV Likely pathogenic 555785 rs113767658 6:131897876-131897876 6:131576736-131576736
35 ARG1 NM_000045.4(ARG1):c.129del (p.Glu44fs)deletion Likely pathogenic 557931 rs1169538148 6:131897873-131897873 6:131576733-131576733
36 ARG1 NM_000045.4(ARG1):c.787G>T (p.Glu263Ter)SNV Likely pathogenic 557951 rs747579073 6:131904616-131904616 6:131583476-131583476
37 ARG1 NM_000045.4(ARG1):c.2T>C (p.Met1Thr)SNV Likely pathogenic 555971 rs1554249332 6:131894424-131894424 6:131573284-131573284
38 ARG1 NM_000045.4(ARG1):c.372dup (p.Ala125fs)duplication Likely pathogenic 553898 rs776939220 6:131902424-131902425 6:131581284-131581285
39 ARG1 NM_000045.4(ARG1):c.466-2A>GSNV Likely pathogenic 557567 rs1554251045 6:131903759-131903759 6:131582619-131582619
40 ARG1 NM_000045.4(ARG1):c.693del (p.Phe231fs)deletion Likely pathogenic 558545 rs1554251191 6:131904519-131904519 6:131583379-131583379
41 ARG1 NM_000045.4(ARG1):c.923G>A (p.Arg308Gln)SNV Conflicting interpretations of pathogenicity 550679 rs377280518 6:131905002-131905002 6:131583862-131583862
42 ARG1 NM_000045.4(ARG1):c.892G>C (p.Ala298Pro)SNV Conflicting interpretations of pathogenicity 419034 rs755359126 6:131904971-131904971 6:131583831-131583831
43 ARG1 NM_000045.4(ARG1):c.62G>A (p.Arg21Gln)SNV Conflicting interpretations of pathogenicity 517018 rs144994895 6:131897807-131897807 6:131576667-131576667
44 ARG1 NM_000045.4(ARG1):c.75A>G (p.Glu25=)SNV Conflicting interpretations of pathogenicity 355318 rs755973004 6:131897820-131897820 6:131576680-131576680
45 ARG1 NM_000045.4(ARG1):c.944T>C (p.Ile315Thr)SNV Conflicting interpretations of pathogenicity 355321 rs202219126 6:131905023-131905023 6:131583883-131583883
46 ARG1 NM_000045.4(ARG1):c.-21A>CSNV Uncertain significance 355316 rs370747314 6:131894402-131894402 6:131573262-131573262
47 ARG1 NM_000045.4(ARG1):c.305+7T>CSNV Uncertain significance 355319 rs886061060 6:131900432-131900432 6:131579292-131579292
48 ARG1 NM_000045.4(ARG1):c.566T>A (p.Ile189Asn)SNV Uncertain significance 355320 rs886061061 6:131904205-131904205 6:131583065-131583065
49 ARG1 NM_000045.4(ARG1):c.*310A>GSNV Uncertain significance 355323 rs142812031 6:131905358-131905358 6:131584218-131584218
50 ARG1 NM_000045.3(ARG1):c.-70A>GSNV Uncertain significance 355314 rs192353153 6:131894353-131894353 6:131573213-131573213

UniProtKB/Swiss-Prot genetic disease variations for Argininemia:

73
# 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 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.78 SLC25A15 SLC25A13 QDPR PRODH PAH OTC
2
Show member pathways
13.5 SLC25A15 QDPR PRODH PAH OTC NAGS
3
Show member pathways
12.13 PAH OTC NAGS HADHA CPS1 ASS1
4
Show member pathways
11.74 QDPR PRODH PAH
5 11.73 OTC CPS1 ASS1 ARG2 ARG1
6
Show member pathways
11.46 PRODH GAMT ARG2 ARG1
7 11.17 CPS1 ASS1 ASL
8
Show member pathways
10.96 QDPR PAH
9
Show member pathways
10.91 OTC NAGS CPS1 ASS1 ASL ARG2
10
Show member pathways
10.61 OTC NAGS GAMT CPS1 ASS1 ASL
11
Show member pathways
10.57 ASS1 ASL

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 9.55 PRODH OTC NAGS CPS1 ARG2
2 mitochondrial inner membrane GO:0005743 9.43 SLC25A15 SLC25A13 PRODH OTC HADHA CPS1
3 mitochondrion GO:0005739 9.32 SLC25A15 SLC25A13 PRODH OTC NAGS HLCS

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 9.91 OTC HADHA CPS1 ASS1 ARG1
2 metabolic process GO:0008152 9.88 PAH HLCS HADHA CPS1
3 response to lipopolysaccharide GO:0032496 9.79 CPS1 ASS1 ARG1
4 response to amino acid GO:0043200 9.71 CPS1 ASS1 ARG1
5 response to steroid hormone GO:0048545 9.7 CPS1 ASS1 ARG1
6 cellular amino acid metabolic process GO:0006520 9.62 QDPR OTC
7 cellular response to dexamethasone stimulus GO:0071549 9.62 ASS1 ARG1
8 cellular amino acid biosynthetic process GO:0008652 9.62 PAH OTC ASS1 ASL
9 response to growth hormone GO:0060416 9.61 CPS1 ASS1
10 cellular response to glucagon stimulus GO:0071377 9.61 CPS1 ASS1 ARG1
11 response to glucagon GO:0033762 9.6 QDPR CPS1
12 L-phenylalanine catabolic process GO:0006559 9.59 QDPR PAH
13 arginine metabolic process GO:0006525 9.58 ARG2 ARG1
14 response to amine GO:0014075 9.58 CPS1 ASS1 ARG1
15 citrulline biosynthetic process GO:0019240 9.57 OTC CPS1
16 cellular response to oleic acid GO:0071400 9.56 CPS1 ASS1
17 response to zinc ion GO:0010043 9.56 OTC CPS1 ASS1 ARG1
18 arginine biosynthetic process via ornithine GO:0042450 9.55 OTC ASL
19 liver development GO:0001889 9.55 QDPR OTC CPS1 ASS1 ARG1
20 midgut development GO:0007494 9.54 OTC CPS1 ASS1
21 response to biotin GO:0070781 9.49 OTC HLCS
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 9.26 OTC NAGS ASS1 ASL
25 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 identical protein binding GO:0042802 9.7 SLC25A13 QDPR OTC HLCS ASS1 ASL
2 catalytic activity GO:0003824 9.65 PAH HLCS HADHA CPS1 ASL
3 ligase activity GO:0016874 9.54 HLCS CPS1 ASS1
4 amino acid binding GO:0016597 9.32 OTC ASS1
5 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidines GO:0016813 8.96 ARG2 ARG1
6 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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