ARGIN
MCID: ARG007
MIFTS: 50

Argininemia (ARGIN) malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Argininemia

Aliases & Descriptions for Argininemia:

Name: Argininemia 54 12 50 25 56 66 13
Hyperargininemia 12 23 50 24 25 56 66 52 42 14 69
Arginase Deficiency 12 23 50 24 25 56 66
Arg1 Deficiency 50 25 66
Arginase Deficiency Disease 25 29
Deficiency of Canavanase 12
Arginase-1 Deficiency 66
Argin 66

Characteristics:

Orphanet epidemiological data:

56
argininemia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Europe); Age of onset: Childhood,Infancy;

HPO:

32
argininemia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Inborn errors of metabolism


External Ids:

OMIM 54 207800
Disease Ontology 12 DOID:9278
ICD10 33 E72.21
MeSH 42 D020162
NCIt 47 C84568
SNOMED-CT 64 124518006 23501004
Orphanet 56 ORPHA90
MESH via Orphanet 43 D020162
UMLS via Orphanet 70 C0268548
ICD10 via Orphanet 34 E72.2
MedGen 40 C0268548
UMLS 69 C0268548

Summaries for Argininemia

NIH Rare Diseases : 50 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 diseases known as urea cycle disorders. these diseases 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, the first symptoms appear between the ages of one and three years. these 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. last updated: 4/25/2017

MalaCards based summary : Argininemia, also known as hyperargininemia, is related to carbamoylphosphate synthetase i deficiency and argininosuccinic aciduria, and has symptoms including seizures, neurological speech impairment and eeg abnormality. An important gene associated with Argininemia is ARG1 (Arginase 1), and among its related pathways/superpathways are Viral mRNA Translation and Carbon metabolism. The drugs Vaccines and arginine have been mentioned in the context of this disorder. Affiliated tissues include liver and brain, and related phenotypes are behavior/neurological and homeostasis/metabolism

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 : 54 Arginase deficiency is an autosomal recessive inborn error of metabolism caused by a defect in the final step in the... (207800) more...

UniProtKB/Swiss-Prot : 66 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 : 71 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 by clinical synopsis from OMIM:

207800

Clinical features from OMIM:

207800

Human phenotypes related to Argininemia:

56 32 (show all 17)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 56 32 Frequent (79-30%) HP:0001250
2 neurological speech impairment 56 32 Very frequent (99-80%) HP:0002167
3 eeg abnormality 56 32 Frequent (79-30%) HP:0002353
4 behavioral abnormality 56 32 Very frequent (99-80%) HP:0000708
5 global developmental delay 56 32 Very frequent (99-80%) HP:0001263
6 intellectual disability, severe 56 32 Very frequent (99-80%) HP:0010864
7 hemiplegia/hemiparesis 56 32 Frequent (79-30%) HP:0004374
8 hyperammonemia 56 32 Frequent (79-30%) HP:0001987
9 progressive spastic quadriplegia 56 32 Frequent (79-30%) HP:0002478
10 diaminoaciduria 56 32 Very frequent (99-80%) HP:0008339
11 vomiting 32 HP:0002013
12 intellectual disability 32 HP:0001249
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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.65 ASL ASS1 NACC1 NAGS OTC
2 homeostasis/metabolism MP:0005376 9.63 ARG1 ASL ASS1 NACC1 NAGS OTC
3 integument MP:0010771 9.26 ASL ASS1 NAGS OTC
4 mortality/aging MP:0010768 9.1 ARG1 ASL ASS1 NACC1 NAGS OTC

Drugs & Therapeutics for Argininemia

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Vaccines
2 arginine Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase
1 A Phase 1/2 Study of AEB1102 in Patients With Arginase I Deficiency Recruiting NCT02488044 Phase 1, Phase 2
2 Arginine Feeding: a Novel Strategy to Improve Protein Metabolism in Cancer and the Response to Surgery Active, not recruiting NCT00497380
3 Perioperative Immunonutrition in Colorectal Cancer Patients Undergoing Abdominal Surgery Not yet recruiting NCT02987296
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:

id Genetic test Affiliating Genes
1 Arginase Deficiency 29 24 ARG1

Anatomical Context for Argininemia

MalaCards organs/tissues related to Argininemia:

39
Liver, Brain

Publications for Argininemia

Articles related to Argininemia:

(show all 21)
id Title Authors Year
1
Three novel mutations of ARG1 identified in Chinese patients with argininemia detected by newborn screening. ( 28089752 )
2017
2
Argininemia as a cause of severe chronic stunting in a low-resource developing country setting: a case report. ( 27549856 )
2016
3
Argininemia and plasma arginine bioavailability - predictive factors of mortality in the severe trauma patients? ( 27582779 )
2016
4
Liver transplantation prevents progressive neurological impairment in argininemia. ( 23559324 )
2013
5
Case Report of Argininemia: The Utility of the Arginine/Ornithine Ratio for Newborn Screening (NBS). ( 23430558 )
2013
6
Epilepsia Partialis Continua and Generalized Nonconvulsive Status Epilepticus during the Course of Argininemia: A Report on Two Cases. ( 24258525 )
2013
7
Five novel mutations in ARG1 gene in Chinese patients of argininemia. ( 23859858 )
2013
8
Argininemia presenting with progressive spastic diplegia. ( 21310339 )
2011
9
Guanidino compound levels in blood, cerebrospinal fluid, and post-mortem brain material of patients with argininemia. ( 20176499 )
2010
10
Identification of a novel R21X mutation in the liver-type arginase gene (ARG1) in four Portuguese patients with argininemia. ( 10502833 )
1999
11
Argininemia: a treatable genetic cause of progressive spastic diplegia simulating cerebral palsy: case reports and literature review. ( 9378897 )
1997
12
Molecular basis of phenotypic variation in patients with argininemia. ( 7649538 )
1995
13
Three novel mutations in the liver-type arginase gene in three unrelated Japanese patients with argininemia. ( 1463019 )
1992
14
Molecular basis of argininemia. Identification of two discrete frame-shift deletions in the liver-type arginase gene. ( 2365823 )
1990
15
Argininemia. ( 2638334 )
1989
16
A successful trial of enzyme replacement therapy in a case of argininemia. ( 6729810 )
1984
17
Clinical and biochemical findings in argininemia. ( 7164891 )
1982
18
Argininemia: report of a new case and mechanisms of orotic aciduria and hyperammonemia. ( 7164892 )
1982
19
Argininemia treated from birth. ( 480013 )
1979
20
Arginase deficiency in multiple tissues in argininemia. ( 624188 )
1978
21
Argininemia. ( 839367 )
1977

Variations for Argininemia

UniProtKB/Swiss-Prot genetic disease variations for Argininemia:

66
id 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 12)
id 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 rs104893940 GRCh37 Chromosome 6, 131904950: 131904950
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.365G> A (p.Trp122Ter) single nucleotide variant Pathogenic rs104893947 GRCh37 Chromosome 6, 131902418: 131902418
7 ARG1 NM_000045.3(ARG1): c.703G> C (p.Gly235Arg) single nucleotide variant Pathogenic rs104893948 GRCh37 Chromosome 6, 131904532: 131904532
8 ARG1 ARG1, 1-BP DEL, 842C deletion Pathogenic
9 ARG1 NM_000045.3(ARG1): c.32T> C (p.Ile11Thr) single nucleotide variant Pathogenic rs28941474 GRCh37 Chromosome 6, 131894454: 131894454
10 ARG1 NM_000045.3(ARG1): c.413G> T (p.Gly138Val) single nucleotide variant Pathogenic rs104893943 GRCh37 Chromosome 6, 131902466: 131902466
11 ARG1 NM_000045.3(ARG1): c.57+1G> A single nucleotide variant Pathogenic rs587776539 GRCh37 Chromosome 6, 131894480: 131894480
12 ARG1 NM_000045.3(ARG1): c.61C> T (p.Arg21Ter) single nucleotide variant Pathogenic rs104893944 GRCh37 Chromosome 6, 131897806: 131897806

Expression for Argininemia

Search GEO for disease gene expression data for Argininemia.

Pathways for Argininemia

Pathways related to Argininemia according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.21 ARG1 ASL ASS1 NAGS OTC
2
Show member pathways
11.87 ARG1 ASL ASS1 NAGS OTC
3 11.39 ARG1 ASS1 OTC
4 10.91 ASL ASS1
5
Show member pathways
10.86 ARG1 ASL ASS1 NAGS OTC
6
Show member pathways
10.44 ASL ASS1
7
Show member pathways
10.4 ARG1 ASL ASS1 NAGS OTC

GO Terms for Argininemia

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

id Name GO ID Score Top Affiliating Genes
1 liver development GO:0001889 9.37 ARG1 OTC
2 cellular amino acid biosynthetic process GO:0008652 9.33 ASL ASS1 OTC
3 response to zinc ion GO:0010043 9.32 ARG1 OTC
4 protein homotrimerization GO:0070207 9.26 ARG1 OTC
5 arginine biosynthetic process GO:0006526 9.26 ASL ASS1 NAGS OTC
6 urea cycle GO:0000050 9.02 ARG1 ASL ASS1 NAGS OTC

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

id Name GO ID Score Top Affiliating Genes
1 amino acid binding GO:0016597 8.62 ASS1 OTC

Sources for Argininemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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