ARGIN
MCID: ARG007
MIFTS: 50

Argininemia (ARGIN) malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Argininemia

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 27GTR, 30ICD10, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Argininemia:

Name: Argininemia 52 11 48 25 54 70 12
Hyperargininemia 11 23 48 24 25 54 70 50 39 13 68
Arginase Deficiency 11 23 48 24 25 54 70
Arg1 Deficiency 48 25 70
 
Arginase Deficiency Disease 25 27
Deficiency of Canavanase 11
Arginase-1 Deficiency 70
Argin 70

Characteristics:

Orphanet epidemiological data:

54
hyperargininemia:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Europe); Age of onset: Childhood,Infancy

HPO:

64
argininemia:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 207800
Disease Ontology11 DOID:9278
ICD1030 E72.21
MeSH39 D020162
NCIt45 C84568
SNOMED-CT62 124518006, 23501004
Orphanet54 ORPHA90
MESH via Orphanet40 D020162
UMLS via Orphanet69 C0268548
ICD10 via Orphanet31 E72.2
MedGen37 C0268548

Summaries for Argininemia

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NIH Rare Diseases:48 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, seizures and vomiting. An important gene associated with Argininemia is ARG1 (Arginase 1), and among its related pathways are Alanine, aspartate and glutamate metabolism and Alanine and aspartate metabolism. Affiliated tissues include liver and brain, and related mouse phenotypes are integument and behavior/neurological.

Disease Ontology:11 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:52 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:70 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 for NBK1159

Related Diseases for Argininemia

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Graphical network of the top 20 diseases related to Argininemia:



Diseases related to argininemia

Symptoms & Phenotypes for Argininemia

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Symptoms by clinical synopsis from OMIM:

207800

Clinical features from OMIM:

207800

Human phenotypes related to Argininemia:

 54 64 (show all 17)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 behavioral abnormality64 54 Very frequent (99-80%) HP:0000708
2 seizures64 54 Frequent (79-30%) HP:0001250
3 global developmental delay64 54 Very frequent (99-80%) HP:0001263
4 hyperammonemia64 54 Frequent (79-30%) HP:0001987
5 neurological speech impairment64 54 Very frequent (99-80%) HP:0002167
6 eeg abnormality64 54 Frequent (79-30%) HP:0002353
7 progressive spastic quadriplegia64 54 Frequent (79-30%) HP:0002478
8 hemiplegia/hemiparesis64 54 Frequent (79-30%) HP:0004374
9 diaminoaciduria64 54 Very frequent (99-80%) HP:0008339
10 intellectual disability, severe64 54 Very frequent (99-80%) HP:0010864
11 irritability64 HP:0000737
12 hyperactivity64 HP:0000752
13 intellectual disability64 HP:0001249
14 vomiting64 HP:0002013
15 anorexia64 HP:0002039
16 oroticaciduria64 HP:0003218
17 postnatal growth retardation64 HP:0008897

UMLS symptoms related to Argininemia:


seizures, vomiting

MGI Mouse Phenotypes related to Argininemia according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.8ASL, ASS1, NAGS, OTC
2MP:00053868.4ASL, ASS1, NACC1, NAGS, OTC
3MP:00053767.9ARG1, ASL, ASS1, NACC1, NAGS, OTC
4MP:00107687.1ARG1, ASL, ASS1, NACC1, NAGS, OTC

Drugs & Therapeutics for Argininemia

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Vaccines6611
2arginineNutraceutical425

Interventional clinical trials:

idNameStatusNCT IDPhase
1A Phase 1/2 Study of AEB1102 in Patients With Arginase I DeficiencyRecruitingNCT02488044Phase 1, Phase 2
2Arginine Feeding: a Novel Strategy to Improve Protein Metabolism in Cancer and the Response to SurgeryActive, not recruitingNCT00497380
3Perioperative Immunonutrition in Colorectal Cancer Patients Undergoing Abdominal SurgeryNot yet recruitingNCT02987296
4The NIH UNI Study: Urea Cycle Disorders, Nutrition and ImmunityTerminatedNCT01421888

Search NIH Clinical Center for Argininemia


Cochrane evidence based reviews: hyperargininemia

Genetic Tests for Argininemia

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Genetic tests related to Argininemia:

id Genetic test Affiliating Genes
1 Arginase Deficiency27 24 ARG1

Anatomical Context for Argininemia

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MalaCards organs/tissues related to Argininemia:

36
Liver, Brain

Publications for Argininemia

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Articles related to Argininemia:

(show all 21)
idTitleAuthorsYear
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

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UniProtKB/Swiss-Prot genetic disease variations for Argininemia:

70
id Symbol AA change Variation ID SNP ID
1ARG1p.Gly235ArgVAR_000674rs104893948
2ARG1p.Ile11ThrVAR_015594rs28941474
3ARG1p.Gly138ValVAR_015595rs104893943
4ARG1p.Gly27AspVAR_072164
5ARG1p.Gly74ValVAR_072165
6ARG1p.Ala125ValVAR_072166
7ARG1p.Thr134IleVAR_072167
8ARG1p.Arg180ThrVAR_072168
9ARG1p.Arg308GlnVAR_072169rs377280518

Clinvar genetic disease variations for Argininemia:

5 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1ARG1ARG1, 4-BP DELdeletionPathogenic
2ARG1ARG1, 1-BP DELdeletionPathogenic
3ARG1NM_ 000045.3(ARG1): c.871C> T (p.Arg291Ter)SNVPathogenicrs104893940GRCh37Chr 6, 131904950: 131904950
4ARG1NM_ 000045.3(ARG1): c.869C> G (p.Thr290Ser)SNVPathogenicrs104893942GRCh37Chr 6, 131904948: 131904948
5ARG1NM_ 000045.3(ARG1): c.365G> A (p.Trp122Ter)SNVPathogenicrs104893947GRCh37Chr 6, 131902418: 131902418
6ARG1NM_ 000045.3(ARG1): c.703G> C (p.Gly235Arg)SNVPathogenicrs104893948GRCh37Chr 6, 131904532: 131904532
7ARG1ARG1, 1-BP DEL, 842CdeletionPathogenic
8ARG1NM_ 000045.3(ARG1): c.32T> C (p.Ile11Thr)SNVPathogenicrs28941474GRCh37Chr 6, 131894454: 131894454
9ARG1NM_ 000045.3(ARG1): c.413G> T (p.Gly138Val)SNVPathogenicrs104893943GRCh37Chr 6, 131902466: 131902466
10ARG1NM_ 000045.3(ARG1): c.57+1G> ASNVPathogenicrs587776539GRCh37Chr 6, 131894480: 131894480
11ARG1ARG1, IVS4AS, A-G, -2SNVPathogenic
12ARG1NM_ 000045.3(ARG1): c.61C> T (p.Arg21Ter)SNVPathogenicrs104893944GRCh37Chr 6, 131897806: 131897806

Expression for genes affiliated with Argininemia

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Search GEO for disease gene expression data for Argininemia.

Pathways for genes affiliated with Argininemia

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Pathways related to Argininemia according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.5ASL, ASS1
2
Show member pathways
9.5ASL, ASS1
38.9ARG1, ASS1, OTC
4
Show member pathways
7.6ARG1, ASL, ASS1, NAGS, OTC
5
Show member pathways
7.6ARG1, ASL, ASS1, NAGS, OTC
6
Show member pathways
7.6ARG1, ASL, ASS1, NAGS, OTC
7
Show member pathways
7.6ARG1, ASL, ASS1, NAGS, OTC

GO Terms for genes affiliated with Argininemia

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

idNameGO IDScoreTop Affiliating Genes
1liver developmentGO:00018899.9ARG1, OTC
2protein homotrimerizationGO:00702079.9ARG1, OTC
3response to zinc ionGO:00100439.7ARG1, OTC
4cellular amino acid biosynthetic processGO:00086529.4ASL, ASS1, OTC
5arginine biosynthetic processGO:00065268.6ASL, ASS1, NAGS, OTC
6urea cycleGO:00000507.6ARG1, ASL, ASS1, NAGS, OTC

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

idNameGO IDScoreTop Affiliating Genes
1amino acid bindingGO:00165979.3ASS1, OTC

Sources for Argininemia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet