MCID: ARG007
MIFTS: 51

Argininemia 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, 26GTR, 29ICD10, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Argininemia:

Name: Argininemia 51 11 47 25 53 69 12
Hyperargininemia 11 23 47 24 25 53 69 49 38 13 67
Arginase Deficiency 11 23 47 24 25 53 69
Arg1 Deficiency 47 25 69
 
Arginase Deficiency Disease 25 26
Deficiency of Canavanase 11
Arginase-1 Deficiency 69
Argin 69

Characteristics:

Orphanet epidemiological data:

53
hyperargininemia:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Europe); Age of onset: Childhood,Infancy

HPO:

63
argininemia:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 207800
Disease Ontology11 DOID:9278
ICD1029 E72.21
MeSH38 D020162
NCIt44 C84568
SNOMED-CT61 124518006, 23501004
Orphanet53 ORPHA90
MESH via Orphanet39 D020162
UMLS via Orphanet68 C0268548
ICD10 via Orphanet30 E72.2
MedGen36 C0268548

Summaries for Argininemia

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NIH Rare Diseases:47 Arginase deficiency is an inherited metabolic condition in which the body is unable to process arginine (a building block of protein). As a result, people affected by the condition have high levels of arginine in the blood and may also experience episodes of hyperammonemia (a buildup of ammonia in the blood). The features of arginase deficiency generally develop between ages one and three years. Signs and symptoms may include poor growth, spasticity (abnormal tensing of the muscles), developmental delay, loss of developmental milestones, intellectual disability, seizures, and microcephaly. Arginase deficiency is caused by changes (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 must follow a very low protein diet under the supervision of a medical team with experience treating metabolic conditions. They may also need to take certain medications (called nitrogen-scavenging drugs). Last updated: 4/17/2016

MalaCards based summary: Argininemia, also known as hyperargininemia, is related to orotic aciduria and carbamoylphosphate synthetase i deficiency, and has symptoms including behavioral abnormality, neurological speech impairment and aminoaciduria. 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:51 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:69 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:70 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 for Argininemia

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Symptoms by clinical synopsis from OMIM:

207800

Clinical features from OMIM:

207800

Human phenotypes related to Argininemia:

 63 53 (show all 19)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 behavioral abnormality63 53 hallmark (90%) Very frequent (99-80%) HP:0000708
2 neurological speech impairment63 53 hallmark (90%) Very frequent (99-80%) HP:0002167
3 aminoaciduria63 hallmark (90%) HP:0003355
4 cognitive impairment63 hallmark (90%) HP:0100543
5 seizures63 53 typical (50%) Frequent (79-30%) HP:0001250
6 hyperammonemia63 53 typical (50%) Frequent (79-30%) HP:0001987
7 eeg abnormality63 53 typical (50%) Frequent (79-30%) HP:0002353
8 hemiplegia/hemiparesis63 53 typical (50%) Frequent (79-30%) HP:0004374
9 irritability63 HP:0000737
10 hyperactivity63 HP:0000752
11 intellectual disability63 HP:0001249
12 global developmental delay63 53 Very frequent (99-80%) HP:0001263
13 vomiting63 HP:0002013
14 anorexia63 HP:0002039
15 progressive spastic quadriplegia63 53 Frequent (79-30%) HP:0002478
16 oroticaciduria63 HP:0003218
17 diaminoaciduria63 53 Very frequent (99-80%) HP:0008339
18 postnatal growth retardation63 HP:0008897
19 intellectual disability, severe53 Very frequent (99-80%)

UMLS symptoms related to Argininemia:


seizures, vomiting

Drugs & Therapeutics for Argininemia

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Vaccines6428
2arginineNutraceutical408

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 Deficiency26 24 ARG1

Anatomical Context for Argininemia

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MalaCards organs/tissues related to Argininemia:

35
Liver, Brain

Animal Models for Argininemia or affiliated genes

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MGI Mouse Phenotypes related to Argininemia:

40
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

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 and plasma arginine bioavailability - predictive factors of mortality in the severe trauma patients? (27582779)
2016
3
Argininemia as a cause of severe chronic stunting in a low-resource developing country setting: a case report. (27549856)
2016
4
Liver transplantation prevents progressive neurological impairment in argininemia. (23559324)
2013
5
Epilepsia Partialis Continua and Generalized Nonconvulsive Status Epilepticus during the Course of Argininemia: A Report on Two Cases. (24258525)
2013
6
Case Report of Argininemia: The Utility of the Arginine/Ornithine Ratio for Newborn Screening (NBS). (23430558)
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
Argininemia: report of a new case and mechanisms of orotic aciduria and hyperammonemia. (7164892)
1982
18
Clinical and biochemical findings in argininemia. (7164891)
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:

69
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 DELdeletionPathogenicChr na, -1: -1
2ARG1ARG1, 1-BP DELdeletionPathogenicChr na, -1: -1
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, 842CdeletionPathogenicChr na, -1: -1
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> ASNVPathogenicrs587776539GRCh38Chr 6, 131573340: 131573340
11ARG1ARG1, IVS4AS, A-G, -2SNVPathogenicChr na, -1: -1
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
3
Show member pathways
7.6ARG1, ASL, ASS1, NAGS, 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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Cellular components related to Argininemia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial outer membraneGO:00057419.5ARG1, ASS1

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1response to steroid hormoneGO:004854510.0ARG1, ASS1
2response to amineGO:001407510.0ARG1, ASS1
3cellular response to glucagon stimulusGO:007137710.0ARG1, ASS1
4arginine biosynthetic process via ornithineGO:004245010.0ASL, OTC
5response to amino acidGO:004320010.0ARG1, ASS1
6arginine catabolic processGO:00065279.9ARG1, ASL
7response to peptide hormoneGO:00434349.9ARG1, ASS1
8cellular response to lipopolysaccharideGO:00712229.9ARG1, ASS1
9midgut developmentGO:00074949.7ASS1, OTC
10cellular response to dexamethasone stimulusGO:00715499.7ARG1, ASS1
11protein homotrimerizationGO:00702079.6ARG1, OTC
12response to zinc ionGO:00100439.3ARG1, ASS1, OTC
13liver developmentGO:00018899.1ARG1, ASS1, OTC
14arginine biosynthetic processGO:00065269.1ASL, ASS1, NAGS
15response to drugGO:00424938.9ARG1, ASS1, OTC
16urea cycleGO:00000508.1ARG1, 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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet