MCID: HYP038
MIFTS: 60

Hyperargininemia malady

Genetic diseases, Rare diseases categories

Summaries for Hyperargininemia

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9Disease Ontology, 22Genetics Home Reference, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 Arginase deficiency is an inherited condition in which the body does not properly process protein in the diet.Ā Ā individuals with this disease appear healthy at birth, but later develop symptoms between the ages of one and three.Ā  symptoms of arginase deficiency include muscle stiffness (spasticity), decreased growth and intellectual development, and seizures.Ā  arginase deficiency is caused by mutations in the arg1 gene.Ā  treatment may include limiting the amount of protein in the diet, using special dietary formulas that are low in protein, and taking certain medications to remove excess nitrogen from the blood. last updated: 9/13/2012

MalaCards: Hyperargininemia, also known as arginase deficiency, is related to argininosuccinic aciduria and carbamoyl phosphate synthetase i deficiency disease, and has symptoms including hyperammonemia, aminoacid metabolism anomalies/aminoaciduria and psychic/behavioural troubles. An important gene associated with Hyperargininemia is ARG1 (arginase 1), and among its related pathways are Alanine and aspartate metabolism and Alanine, aspartate and glutamate metabolism. The compounds Canavaninosuccinate and argininosuccinic acid have been mentioned in the context of this disorder. Affiliated tissues include liver, cortex and testes, and related mouse phenotypes are immune system and behavior/neurological.

Disease Ontology:9 An urea cycle disorder that involves arginase deficiency resulting in elevated levels of plasma arginine.

Genetics Home Reference:22 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.

Wikipedia:66 Argininemia, also called arginase deficiency, is an autosomal recessiveurea cycle disorder where a... more...

Description from OMIM:48 207800

GeneReviews summary for arg1

Aliases & Classifications for Hyperargininemia

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9Disease Ontology, 20GeneReviews, 44NIH Rare Diseases, 22Genetics Home Reference, 11DISEASES, 46Novoseek, 50Orphanet, 63UMLS, 21GeneTests, 23GTR, 10diseasecard, 48OMIM, 59SNOMED-CT, 36MeSH, 41NCIt, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


Characteristics (Orphanet epidemiological data):

50
hyperargininemia:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

hyperargininemia 9 20 44 22 11 46 50 63
arginase deficiency 9 20 44 21 23 22 50
argininemia 9 10 44 22 48 50
arg1 deficiency 44 22
arginase deficiency disease 22
deficiency of canavanase 9


External Ids:

Disease Ontology9 DOID:9278
OMIM48 207800
MeSH36 D020162
NCIt41 C84568
SNOMED-CT59 124518006, 23501004
MESH via Orphanet37 D020162
ICD10 via Orphanet27 E72.2
SNOMED-CT via Orphanet60 23501004
UMLS via Orphanet64 C0268548

Related Diseases for Hyperargininemia

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Hyperargininemia:



Diseases related to hyperargininemia

Symptoms for Hyperargininemia

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

207800

Clinical features from OMIM:

207800

Symptoms:

50 (show all 9)
  • hyperammonemia
  • aminoacid metabolism anomalies/aminoaciduria
  • psychic/behavioural troubles
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • seizures/epilepsy/absences/spasms/status epilepticus
  • eeg anomalies
  • autosomal recessive inheritance

Drugs & Therapeutics for Hyperargininemia

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Hyperargininemia

Drug clinical trials:

Search ClinicalTrials for Hyperargininemia

Search NIH Clinical Center for Hyperargininemia

Search CenterWatch for Hyperargininemia

Genetic Tests for Hyperargininemia

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21GeneTests, 23GTR
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Genetic tests related to Hyperargininemia:

id Genetic test Affiliating Genes
1 Arginase Deficiency21 23 ARG1

Anatomical Context for Hyperargininemia

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34MalaCards
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MalaCards organs/tissues related to Hyperargininemia:

34
Liver, Cortex, Testes, Brain, Skin

Animal Models for Hyperargininemia or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Hyperargininemia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053878.5ARG1, OTC, ASL, ASS1
2MP:00053868.1NACC1, ASS1, ASL, OTC
3MP:00107687.8ARG1, NACC1, ASS1, ASL, OTC
4MP:00053767.1ASS1, NACC1, ASL, OTC, ARG1, ARG2

Publications for Hyperargininemia

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53PubMed
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Articles related to Hyperargininemia:

(show all 44)
idTitleAuthorsYear
1
Inducible arginase 1 deficiency in mice leads to hyperargininemia and altered amino acid metabolism. (24224027)
2013
2
Hyperargininemia: a family with a novel mutation in an unexpected site. (23430921)
2012
3
Brain MRI and Magnetic Resonance Spectroscopy Findings in Patients with Hyperargininemia. (22928720)
2012
4
Clinical features and neurologic progression of hyperargininemia. (22633632)
2012
5
Analysis of novel ARG1 mutations causing hyperargininemia and correlation with arginase I activity in erythrocytes. (22959135)
2012
6
Neonatal cholestasis: an uncommon presentation of hyperargininemia. (21229317)
2010
7
Neuroimaging findings in hyperargininemia. (18321250)
2008
8
Increased plasma and tissue guanidino compounds in a mouse model of hyperargininemia. (17997338)
2008
9
NTPDase and 5'-nucleotidase activities of synaptosomes from hippocampus of rats subjected to hyperargininemia. (17401661)
2007
10
Clinical, biochemical, and molecular spectrum of hyperargininemia due to arginase I deficiency. (16602094)
2006
11
L-NAME administration prevents the inhibition of nucleotide hydrolysis by rat blood serum subjected to hyperargininemia. (15977041)
2005
12
Hyperargininemia due to liver arginase deficiency. (15694174)
2005
13
Functional consequences of the G235R mutation in liver arginase leading to hyperargininemia. (11883902)
2002
14
In vitro stimulation of oxidative stress in cerebral cortex of rats by the guanidino compounds accumulating in hyperargininemia. (11743972)
2001
15
In vitro inhibition of Na+,K(+)-ATPase activity from rat cerebral cortex by guanidino compounds accumulating in hyperargininemia. (10446319)
1999
16
Molecular basis of hyperargininemia: structure-function consequences of mutations in human liver arginase. (9758714)
1998
17
Hyperargininemia presenting as persistent neonatal jaundice and hepatic cirrhosis. (9106111)
1997
18
Identification of mutations (D128G, H141L) in the liver arginase gene of patients with hyperargininemia. (7981719)
1994
19
The pathobiochemistry of uremia and hyperargininemia further demonstrates a metabolic relationship between urea and guanidinosuccinic acid. (1518417)
1992
20
Guanidino compounds that are increased in hyperargininemia inhibit GABA and glycine responses on mouse neurons in cell culture. (1712285)
1991
21
Hyperargininemia: intellectual and motor improvement related to changes in biochemical data. (1999785)
1991
22
Absence of erythrocyte arginase protein in Japanese patients with hyperargininemia. (1959545)
1991
23
Guanidino compound analysis as a complementary diagnostic parameter for hyperargininemia: follow-up of guanidino compound levels during therapy. (1690873)
1990
24
Hyperargininemia, epilepsy and the metabolism of guanidino compounds. (2657590)
1989
25
Differential expression of the two human arginase genes in hyperargininemia. Enzymatic, pathologic, and molecular analysis. (2913054)
1989
26
Guanidino compounds in hyperargininemia. (3433275)
1987
27
Enzyme replacement therapy in a patient with hyperargininemia. (3590176)
1987
28
Treatment of hyperargininemia with sodium benzoate and arginine-restricted diet. (6707802)
1984
29
Hyperargininemia: the rat as a model for the human disease and the comparative response to enzyme replacement therapy with free arginase and arginase-loaded erythrocytes in vivo. (6468738)
1984
30
Hyperargininemia: effect of ornithine and lysine supplementation. (6415261)
1983
31
Hyperargininemia: clinical course and treatment with sodium benzoate and phenylacetic acid. (6670711)
1983
32
Measurement of arginine transport in human erythrocytes using their intrinsic arginase activity: implications for the treatment of familial hyperargininemia. (6817948)
1982
33
Guanidino compounds in hyperargininemia. (7164915)
1982
34
Ammonia metabolism in a family affected by hyperargininemia. (7238975)
1981
35
Excretion of alpha-keto-delta-guanidinovaleric acid and its cyclic form in patients with hyperargininemia. (498528)
1979
36
Arginase and free amino acids in hyperargininemia: leukocyte arginine as a diagnostic parameter for heterozygotes. (438730)
1979
37
Hyperargininemia with arginase deficiency. (481955)
1979
38
Human hyperargininemia: a mutation not expressed in skin fibroblasts? (879168)
1977
39
A simple screening test for arginase deficiency (hyperargininemia). (845487)
1977
40
Lysine supplementation in hyperargininemia. (925806)
1977
41
Hyperargininemia. (839368)
1977
42
Use of enzyme-loaded erythrocytes in in-vitro correction of arginase-deficient erythrocytes in familial hyperargininemia. (1253407)
1976
43
Further investigations in hyperargininemia. (4663887)
1972
44
Familial hyperargininemia. (4643877)
1972

Variations for Hyperargininemia

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Hyperargininemia:

65
id Symbol AA change Variation ID SNP ID
1ARG1p.Gly235ArgVAR_000674
2ARG1p.Ile11ThrVAR_015594rs28941474
3ARG1p.Gly138ValVAR_015595

Clinvar genetic disease variations for Hyperargininemia:

1 (show all 12)
id Gene Name Type Significance SNP ID Assembly Location
1ARG1ARG1, 4-BP DELdeletionPathogenic
2ARG1ARG1, 1-BP DELdeletionPathogenic
3NM_000045.3(ARG1): c.871C> T (p.Arg291Ter)single nucleotide variantPathogenicrs104893940GRCh37Chr 6, 131904950: 131904950
4NM_000045.3(ARG1): c.869C> G (p.Thr290Ser)single nucleotide variantPathogenicrs104893942GRCh37Chr 6, 131904948: 131904948
5NM_000045.3(ARG1): c.365G> A (p.Trp122Ter)single nucleotide variantPathogenicrs104893947GRCh37Chr 6, 131902418: 131902418
6NM_000045.3(ARG1): c.703G> C (p.Gly235Arg)single nucleotide variantPathogenicrs104893948GRCh37Chr 6, 131904532: 131904532
7ARG1ARG1, 1-BP DEL, 842CdeletionPathogenic
8ARG1NM_000045.3(ARG1): c.32T> C (p.Ile11Thr)single nucleotide variantPathogenicrs28941474GRCh37Chr 6, 131894454: 131894454
9NM_000045.3(ARG1): c.413G> T (p.Gly138Val)single nucleotide variantPathogenicrs104893943GRCh37Chr 6, 131902466: 131902466
10ARG1NM_000045.3(ARG1): c.57+1G> Asingle nucleotide variantPathogenicGRCh37Chr 6, 131894480: 131894480
11ARG1ARG1, IVS4, A-G, -2single nucleotide variantPathogenic
12NM_000045.3(ARG1): c.61C> T (p.Arg21Ter)single nucleotide variantPathogenicrs104893944GRCh37Chr 6, 131897806: 131897806

Expression for genes affiliated with Hyperargininemia

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hyperargininemia

Search GEO for disease gene expression data for Hyperargininemia.

Pathways for genes affiliated with Hyperargininemia

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51PathCards, 39NCBI BioSystems Database, 31KEGG, 56Reactome, 52PharmGKB
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Pathways related to Hyperargininemia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5ASL, ASS1
29.5ASS1, ASL
39.2ARG2, ARG1
4
Show member pathways
glutamate biosynthesis II39
arginine biosynthesis IV39
8.9ASS1, ASL, OTC
5
Show member pathways
citrulline-nitric oxide cycle39
arginine degradation I (arginase pathway)39
proline degradation39
glutamine degradation I39
proline biosynthesis I39
superpathway of citrulline metabolism39
proline biosynthesis II (from arginine)39
citrulline biosynthesis39
arginine degradation VI (arginase 2 pathway)39
Urea cycle and metabolism of amino groups39
asparagine biosynthesis I39
4-hydroxyproline degradation I39
citrulline degradation39
7.6ARG1, ASS1, ASL, OTC, ARG2
6
Show member pathways
L-serine degradation39
pentose phosphate pathway (oxidative branch)39
formaldehyde oxidation II (glutathione-dependent)39
7.6ARG1, OTC, ARG2, ASL, ASS1
7
Show member pathways
7.6ARG2, OTC, ARG1, ASS1, ASL
8
Show member pathways
creatine-phosphate biosynthesis39
glycine degradation (creatine biosynthesis)39
putrescine biosynthesis III39
spermidine biosynthesis I39
tryptophan degradation via kynurenine39
spermine biosynthesis39
urea cycle39
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I39
tyrosine degradation I39
L-carnitine biosynthesis39
methylthiopropionate biosynthesis39
2-oxoglutarate decarboxylation to succinyl-CoA39
S-methyl-5-thioadenosine degradation II39
7.6ASL, OTC, ARG2, ARG1, ASS1

Compounds for genes affiliated with Hyperargininemia

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25HMDB, 46Novoseek, 52PharmGKB, 30IUPHAR, 12DrugBank, 3BitterDB
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Compounds related to Hyperargininemia according to GeneCards/GeneDecks:

(show all 30)
idCompoundScoreTop Affiliating Genes
1Canavaninosuccinate259.8ASL, ASS1
2argininosuccinic acid46 2510.8ASL, ASS1
3guanidinoacetate469.7ASS1, ASL
4n-acetylglutamate469.7ASL, OTC
5sodium phenylbutyrate529.6ASS1, OTC
6putrescine46 30 25 1212.6ARG1, OTC
72(s)-amino-6-boronohexanoic acid46 1210.6ARG2, ARG1
8s-2-(boronoethyl)-l-cysteine46 1210.5ARG2, ARG1
9delta(1)pyrroline-5-carboxylate469.5ASS1, OTC
10l-citrulline30 1210.5OTC, ASS1
11malate469.5ASL, OTC
12phosphoenolpyruvate46 1210.3OTC, ASS1
13manganese46 2510.2ARG1, ARG2
14ammonium469.2OTC, ASL, ASS1
15pyruvate469.0OTC, ASS1
16l-ornithine30 1210.0ARG1, ARG2, OTC
17proline468.9ARG1, ASL, ARG2
18sodium benzoate52 39.9OTC, ASL, ASS1, ARG1
19phenylacetic acid52 46 2510.9ASS1, ASL, OTC, ARG1
20carbamoyl phosphate468.8OTC, ASL, ARG1, ASS1
21citrulline46 259.8ASL, ASS1, ARG1, OTC
22atp46 309.8ASS1, OTC, ARG1
23aspartate468.7ASL, OTC, ASS1, ARG1
24l-arginine30 25 1210.6ARG2, ASL, ASS1, ARG1
25creatinine468.3OTC, ASL, ARG2, ASS1
26ornithine46 259.0ASL, ARG1, ASS1, ARG2, OTC
27urea46 25 1210.0ASS1, ARG2, OTC, ASL, ARG1
28arginine468.0ARG1, ASS1, ASL, OTC, ARG2
29nitric oxide46 25 1210.0ASS1, ARG1, ARG2, OTC, ASL
30glutamate468.0ARG1, ARG2, ASL, ASS1, OTC

GO Terms for genes affiliated with Hyperargininemia

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17Gene Ontology
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Biological processes related to Hyperargininemia according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1arginine catabolic processGO:0065279.6ARG1, ASL
2arginine biosynthetic processGO:0065269.4ASS1, OTC
3liver developmentGO:0018899.4OTC, ARG1
4protein homotrimerizationGO:0702079.3ARG1, OTC
5response to zinc ionGO:0100439.1ARG1, OTC
6urea cycleGO:0000507.8ARG1, ARG2, OTC, ASL, ASS1
7cellular nitrogen compound metabolic processGO:0346417.8ARG2, OTC, ASL, ASS1, ARG1
8small molecule metabolic processGO:0442817.7ARG1, OTC, ASL, ARG2, ASS1

Products for genes affiliated with Hyperargininemia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hyperargininemia

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet