MCID: HYP038
MIFTS: 60

Hyperargininemia malady

Genetic diseases, Rare diseases categories
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Summaries for Hyperargininemia

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8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 65Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 Arginase deficiency is an inherited condition in which the body does not properly process protein in the diet.  individuals with this disease appear healthy at birth, but later develop symptoms between the ages of one and three.  symptoms of arginase deficiency include muscle stiffness (spasticity), decreased growth and intellectual development, and seizures.  arginase deficiency is caused by mutations in the arg1 gene.  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:8 An urea cycle disorder that involves arginase deficiency resulting in elevated levels of plasma arginine.

Genetics Home Reference:21 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:65 Argininemia, also called arginase deficiency, is an autosomal recessiveurea cycle disorder where a... more...

Description from OMIM:47 207800

GeneReviews summary for arg1

Aliases & Classifications for Hyperargininemia

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8Disease Ontology, 19GeneReviews, 43NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 45Novoseek, 49Orphanet, 62UMLS, 20GeneTests, 22GTR, 9diseasecard, 47OMIM, 58SNOMED-CT, 35MeSH, 40NCIt, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
hyperargininemia:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

hyperargininemia 8 19 43 21 10 45 49 62
arginase deficiency 8 19 43 20 22 21 49
argininemia 8 9 43 21 47 49
arg1 deficiency 43 21
arginase deficiency disease 21
deficiency of canavanase 8


External Ids:

Disease Ontology8 DOID:9278
OMIM47 207800
MeSH35 D020162
NCIt40 C84568
SNOMED-CT58 124518006, 23501004
MESH via Orphanet36 D020162
ICD10 via Orphanet26 E72.2
SNOMED-CT via Orphanet59 23501004
UMLS via Orphanet63 C0268548

Related Diseases for Hyperargininemia

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17GeneCards, 18GeneDecks
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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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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

207800

Clinical features from OMIM:

207800

Symptoms:

49 (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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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Hyperargininemia

Search NIH Clinical Center for Hyperargininemia

Genetic Tests for Hyperargininemia

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20GeneTests, 22GTR
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Genetic tests related to Hyperargininemia:

id Genetic test Affiliating Genes
1 Arginase Deficiency20 22 ARG1

Anatomical Context for Hyperargininemia

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33MalaCards
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MalaCards organs/tissues related to Hyperargininemia:

33
Liver, Cortex, Testes, Brain, Skin

Animal Models for Hyperargininemia or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Hyperargininemia:

37
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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52PubMed
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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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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Hyperargininemia:

64
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, 15Gene 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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50PathCards, 38NCBI BioSystems Database, 30KEGG, 55Reactome, 51PharmGKB
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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 II38
arginine biosynthesis IV38
8.9ASS1, ASL, OTC
5
Show member pathways
citrulline-nitric oxide cycle38
arginine degradation I (arginase pathway)38
proline degradation38
glutamine degradation I38
proline biosynthesis I38
superpathway of citrulline metabolism38
proline biosynthesis II (from arginine)38
citrulline biosynthesis38
arginine degradation VI (arginase 2 pathway)38
Urea cycle and metabolism of amino groups38
asparagine biosynthesis I38
4-hydroxyproline degradation I38
citrulline degradation38
7.6ARG1, ASS1, ASL, OTC, ARG2
6
Show member pathways
L-serine degradation38
pentose phosphate pathway (oxidative branch)38
formaldehyde oxidation II (glutathione-dependent)38
7.6ARG1, OTC, ARG2, ASL, ASS1
7
Show member pathways
7.6ARG2, OTC, ARG1, ASS1, ASL
8
Show member pathways
creatine-phosphate biosynthesis38
glycine degradation (creatine biosynthesis)38
putrescine biosynthesis III38
spermidine biosynthesis I38
tryptophan degradation via kynurenine38
spermine biosynthesis38
urea cycle38
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I38
tyrosine degradation I38
L-carnitine biosynthesis38
methylthiopropionate biosynthesis38
2-oxoglutarate decarboxylation to succinyl-CoA38
S-methyl-5-thioadenosine degradation II38
7.6ASL, OTC, ARG2, ARG1, ASS1

Compounds for genes affiliated with Hyperargininemia

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24HMDB, 45Novoseek, 51PharmGKB, 29IUPHAR, 11DrugBank, 3BitterDB
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Compounds related to Hyperargininemia according to GeneCards/GeneDecks:

(show all 30)
idCompoundScoreTop Affiliating Genes
1Canavaninosuccinate249.8ASL, ASS1
2argininosuccinic acid45 2410.8ASL, ASS1
3guanidinoacetate459.7ASS1, ASL
4n-acetylglutamate459.7ASL, OTC
5sodium phenylbutyrate519.6ASS1, OTC
6putrescine45 29 24 1112.6ARG1, OTC
72(s)-amino-6-boronohexanoic acid45 1110.6ARG2, ARG1
8s-2-(boronoethyl)-l-cysteine45 1110.5ARG2, ARG1
9delta(1)pyrroline-5-carboxylate459.5ASS1, OTC
10l-citrulline29 1110.5OTC, ASS1
11malate459.5ASL, OTC
12phosphoenolpyruvate45 1110.3OTC, ASS1
13manganese45 2410.2ARG1, ARG2
14ammonium459.2OTC, ASL, ASS1
15pyruvate459.0OTC, ASS1
16l-ornithine29 1110.0ARG1, ARG2, OTC
17proline458.9ARG1, ASL, ARG2
18sodium benzoate51 39.9OTC, ASL, ASS1, ARG1
19phenylacetic acid51 45 2410.9ASS1, ASL, OTC, ARG1
20carbamoyl phosphate458.8OTC, ASL, ARG1, ASS1
21citrulline45 249.8ASL, ASS1, ARG1, OTC
22atp45 299.8ASS1, OTC, ARG1
23aspartate458.7ASL, OTC, ASS1, ARG1
24l-arginine29 24 1110.6ARG2, ASL, ASS1, ARG1
25creatinine458.3OTC, ASL, ARG2, ASS1
26ornithine45 249.0ASL, ARG1, ASS1, ARG2, OTC
27urea45 24 1110.0ASS1, ARG2, OTC, ASL, ARG1
28arginine458.0ARG1, ASS1, ASL, OTC, ARG2
29nitric oxide45 24 1110.0ASS1, ARG1, ARG2, OTC, ASL
30glutamate458.0ARG1, ARG2, ASL, ASS1, OTC

GO Terms for genes affiliated with Hyperargininemia

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16Gene 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
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet