MCID: HYP038
MIFTS: 62

Hyperargininemia malady

Metabolic diseases category

Summaries for Hyperargininemia

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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 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 ornithine carbamoyltransferase deficiency and argininosuccinic aciduria, and has symptoms including hyperammonemia, seizures/epilepsy/absences/spasms/status epilepticus and hemiplegia/diplegia/hemiparesia/limb palsy. 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 argininosuccinic acid and guanidinoacetate have been mentioned in the context of this disorder. Affiliated tissues include liver, cortex and testes, and related mouse phenotypes are integument and mortality/aging.

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

Description from OMIM:46 207800

GeneReviews summary for arg1

Aliases & Classifications for Hyperargininemia

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8Disease Ontology, 19GeneReviews, 42NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 9diseasecard, 46OMIM, 20GeneTests, 22GTR, 34MeSH, 39NCIt, 56SNOMED-CT, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases


Characteristics (Orphanet epidemiological data):

48
hyperargininemia:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

hyperargininemia 8 19 42 21 10 44 48 60
arginase deficiency 8 19 42 20 22 21 48
argininemia 8 9 42 21 46 48
arg1 deficiency 42 21
arginase deficiency disease 21
deficiency of canavanase 8


External Ids:

Disease Ontology8 DOID:9278
OMIM46 207800
MeSH34 D020162
NCIt39 C84568
SNOMED-CT56 23501004, 124518006
MESH via Orphanet35 D020162
ICD10 via Orphanet26 E72.2
SNOMED-CT via Orphanet57 23501004
UMLS via Orphanet61 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

Clinical Features for Hyperargininemia

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46OMIM, 48Orphanet
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Clinical features from OMIM:

207800

Clinical synopsis from OMIM:

207800

Symptoms:

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

Drugs & Therapeutics for Hyperargininemia

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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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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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32MalaCards
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MalaCards organs/tissues related to Hyperargininemia:

32
Liver, Cortex, Testes, Skin, Brain

Animal Models for Hyperargininemia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Hyperargininemia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.7ASL, ASS1, ACADS, OTC, NAGS
2MP:00107686.8ARG1, NAGS, NAPB, OTC, ACADVL, ACADS
3MP:00053766.8ASL, ARG1, ARG2, NAGS, NACC1, OTC
4MP:00053866.8NAGS, NAPB, NACC1, OTC, ACADVL, ACADS

Publications for Hyperargininemia

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50PubMed
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Articles related to Hyperargininemia:

(show all 46)
idTitleAuthorsYear
1
Novel complex re-arrangement of ARG1 commonly shared by unrelated patients with hyperargininemia. (24103480)
2014
2
Inducible arginase 1 deficiency in mice leads to hyperargininemia and altered amino acid metabolism. (24224027)
2013
3
Hyperargininemia: a family with a novel mutation in an unexpected site. (23430921)
2012
4
Brain MRI and Magnetic Resonance Spectroscopy Findings in Patients with Hyperargininemia. (22928720)
2012
5
Clinical features and neurologic progression of hyperargininemia. (22633632)
2012
6
Analysis of novel ARG1 mutations causing hyperargininemia and correlation with arginase I activity in erythrocytes. (22959135)
2012
7
Neonatal cholestasis: an uncommon presentation of hyperargininemia. (21229317)
2010
8
Neuroimaging findings in hyperargininemia. (18321250)
2008
9
Increased plasma and tissue guanidino compounds in a mouse model of hyperargininemia. (17997338)
2008
10
NTPDase and 5'-nucleotidase activities of synaptosomes from hippocampus of rats subjected to hyperargininemia. (17401661)
2007
11
Clinical, biochemical, and molecular spectrum of hyperargininemia due to arginase I deficiency. (16602094)
2006
12
L-NAME administration prevents the inhibition of nucleotide hydrolysis by rat blood serum subjected to hyperargininemia. (15977041)
2005
13
Hyperargininemia due to liver arginase deficiency. (15694174)
2005
14
Functional consequences of the G235R mutation in liver arginase leading to hyperargininemia. (11883902)
2002
15
In vitro stimulation of oxidative stress in cerebral cortex of rats by the guanidino compounds accumulating in hyperargininemia. (11743972)
2001
16
In vitro inhibition of Na+,K(+)-ATPase activity from rat cerebral cortex by guanidino compounds accumulating in hyperargininemia. (10446319)
1999
17
Molecular basis of hyperargininemia: structure-function consequences of mutations in human liver arginase. (9758714)
1998
18
Hyperargininemia presenting as persistent neonatal jaundice and hepatic cirrhosis. (9106111)
1997
19
Identification of mutations (D128G, H141L) in the liver arginase gene of patients with hyperargininemia. (7981719)
1994
20
The pathobiochemistry of uremia and hyperargininemia further demonstrates a metabolic relationship between urea and guanidinosuccinic acid. (1518417)
1992
21
Guanidino compounds that are increased in hyperargininemia inhibit GABA and glycine responses on mouse neurons in cell culture. (1712285)
1991
22
Hyperargininemia: intellectual and motor improvement related to changes in biochemical data. (1999785)
1991
23
Absence of erythrocyte arginase protein in Japanese patients with hyperargininemia. (1959545)
1991
24
Guanidino compound analysis as a complementary diagnostic parameter for hyperargininemia: follow-up of guanidino compound levels during therapy. (1690873)
1990
25
Hyperargininemia, epilepsy and the metabolism of guanidino compounds. (2657590)
1989
26
Differential expression of the two human arginase genes in hyperargininemia. Enzymatic, pathologic, and molecular analysis. (2913054)
1989
27
Guanidino compounds in hyperargininemia. (3433275)
1987
28
Enzyme replacement therapy in a patient with hyperargininemia. (3590176)
1987
29
Treatment of hyperargininemia with sodium benzoate and arginine-restricted diet. (6707802)
1984
30
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
31
Hyperargininemia: effect of ornithine and lysine supplementation. (6415261)
1983
32
Isoenzyme pattern and immunological properties of arginase in normal and hyperargininemia fibroblasts. (6404622)
1983
33
Hyperargininemia: clinical course and treatment with sodium benzoate and phenylacetic acid. (6670711)
1983
34
Measurement of arginine transport in human erythrocytes using their intrinsic arginase activity: implications for the treatment of familial hyperargininemia. (6817948)
1982
35
Guanidino compounds in hyperargininemia. (7164915)
1982
36
Ammonia metabolism in a family affected by hyperargininemia. (7238975)
1981
37
Excretion of alpha-keto-delta-guanidinovaleric acid and its cyclic form in patients with hyperargininemia. (498528)
1979
38
Arginase and free amino acids in hyperargininemia: leukocyte arginine as a diagnostic parameter for heterozygotes. (438730)
1979
39
Hyperargininemia with arginase deficiency. (481955)
1979
40
Human hyperargininemia: a mutation not expressed in skin fibroblasts? (879168)
1977
41
A simple screening test for arginase deficiency (hyperargininemia). (845487)
1977
42
Lysine supplementation in hyperargininemia. (925806)
1977
43
Hyperargininemia. (839368)
1977
44
Use of enzyme-loaded erythrocytes in in-vitro correction of arginase-deficient erythrocytes in familial hyperargininemia. (1253407)
1976
45
Further investigations in hyperargininemia. (4663887)
1972
46
Familial hyperargininemia. (4643877)
1972

Genetic Variations for Hyperargininemia

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Hyperargininemia:

62
id Symbol AA change Variation ID SNP ID
1ARG1p.Gly235ArgVAR_000674
2ARG1p.Ile11ThrVAR_015594rs28941474
3ARG1p.Gly138ValVAR_015595

Expression for genes affiliated with Hyperargininemia

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1BioGPS, 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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37NCBI BioSystems Database, 29KEGG, 53Reactome
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Compounds for genes affiliated with Hyperargininemia

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44Novoseek, 24HMDB, 28IUPHAR, 11DrugBank, 2BitterDB, 49PharmGKB
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Compounds related to Hyperargininemia according to GeneCards/GeneDecks:

(show all 31)
idCompoundScoreTop Affiliating Genes
1argininosuccinic acid44 2411.1ASL, ASS1
2guanidinoacetate4410.1ASS1, ASL
3benzoate4410.1OTC, NAGS
4delta(1)pyrroline-5-carboxylate4410.0OTC, ASS1
5l-citrulline28 1111.0ASS1, OTC
6s-2-(boronoethyl)-l-cysteine44 1110.9ARG2, ARG1
72(s)-amino-6-boronohexanoic acid44 1110.9ARG2, ARG1
8n-acetylglutamate449.8ASL, OTC, NAGS
9ammonium449.8OTC, ASS1, ASL
10acetyl-l-carnitine449.7OTC, ACADVL
11agmatine44 28 11 2412.7ADC, ARG1
12putrescine44 28 11 2412.7ARG1, OTC, ADC
13famotidine44 2 11 2412.6ADC, NAGS
14citrulline44 2410.6ARG1, OTC, ASS1, ASL
15l-ornithine28 1110.6OTC, ARG2, ARG1
16carnitine449.4ACADS, ACADVL, OTC
17spermidine44 28 11 2412.4ADC, ARG1
18acyl-coa449.4OTC, ACADVL, ACADS
19aspartate449.3ASL, ASS1, OTC, ARG1
20sodium benzoate49 210.2ASL, ASS1, OTC, NAGS, ARG1
21phenylacetic acid49 44 2411.2ARG1, NAGS, OTC, ASS1, ASL
22carbamoyl phosphate449.2ASL, ASS1, OTC, NAGS, ARG1
23acetyl-coa44 2410.1NAGS, ACADVL, ACADS
24proline449.0ADC, ASL, ARG2, ARG1
25l-arginine28 11 2410.8ARG1, ARG2, ASS1, ASL, ADC
26nitric oxide44 11 2410.5ARG1, ARG2, OTC, ASS1, ASL, ADC
27creatinine448.3ARG2, OTC, ACADVL, ASS1, ASL, ADC
28ornithine44 249.2ARG1, ARG2, NAGS, OTC, ASS1, ASL
29urea44 11 2410.2ARG1, ARG2, NAGS, OTC, ASS1, ASL
30arginine448.1ARG1, ARG2, NAGS, OTC, ASS1, ASL
31glutamate447.7ARG1, ARG2, NAGS, OTC, ACADS, ASS1

GO Terms for genes affiliated with Hyperargininemia

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16Gene Ontology
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Cellular components related to Hyperargininemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrionGO:0057398.1OTC, ACADVL, ACADS, ADC, ARG2
2mitochondrial matrixGO:0057597.9ACADS, ACADVL, OTC, NAGS, ARG2

Biological processes related to Hyperargininemia according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1arginine catabolic processGO:0065279.9ASL, ARG1
2protein homotrimerizationGO:0702079.8OTC, ARG1
3fatty acid beta-oxidation using acyl-CoA dehydrogenaseGO:0335399.6ACADVL, ACADS
4response to zinc ionGO:0100439.6OTC, ARG1
5arginine biosynthetic processGO:0065269.5ASS1, OTC, NAGS
6fatty acid beta-oxidationGO:0066359.5ACADS, ACADVL
7urea cycleGO:0000508.4ASL, ASS1, OTC, NAGS, ARG2, ARG1
8cellular nitrogen compound metabolic processGO:0346418.0ARG1, ARG2, NAGS, OTC, ASS1, ASL
9small molecule metabolic processGO:0442817.0ARG1, ARG2, NAGS, OTC, ACADVL, ACADS

Molecular functions related to Hyperargininemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1acyl-CoA dehydrogenase activityGO:0039959.5ACADS, ACADVL

Products for genes affiliated with Hyperargininemia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hyperargininemia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet