MCID: ARG007
MIFTS: 50

Argininemia malady

Genetic diseases, Rare diseases, Metabolic diseases categories

Aliases & Classifications for Argininemia

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 23Genetics Home Reference, 51Orphanet, 67UniProtKB/Swiss-Prot, 21GeneReviews, 22GeneTests, 47Novoseek, 12DISEASES, 65UMLS, 36MeSH, 24GTR, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen
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Aliases & Descriptions for Argininemia:

Name: Argininemia 49 10 11 45 23 51 67
Hyperargininemia 10 21 45 22 23 47 12 51 65 36 67
Arginase Deficiency 10 21 45 22 23 51 67
Arg1 Deficiency 45 23 67
 
Arginase Deficiency Disease 23 24
Deficiency of Canavanase 10
Arginase-1 Deficiency 67
Argin 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
hyperargininemia:
Inheritance: Autosomal recessive; Age of onset: Childhood,Infancy


External Ids:

OMIM49 207800
Disease Ontology10 DOID:9278
MeSH36 D020162
NCIt42 C84568
Orphanet51 90
SNOMED-CT59 23501004, 124518006
ICD10 via Orphanet28 E72.2
MESH via Orphanet37 D020162
UMLS via Orphanet66 C0268548
MedGen34 C0268548

Summaries for Argininemia

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NIH Rare Diseases:45 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 based summary: Argininemia, also known as hyperargininemia, is related to orotic aciduria and argininosuccinic aciduria, 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 Arginine and proline metabolism and Amoebiasis. Affiliated tissues include liver and brain, and related mouse phenotype homeostasis/metabolism.

Disease Ontology:10 An urea cycle disorder that involves arginase deficiency resulting in elevated levels of plasma arginine.

Genetics Home Reference:23 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:49 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:67 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:68 Argininemia, also called arginase deficiency, is an autosomal recessiveurea cycle disorder where a... more...

GeneReviews summary for arg1

Related Diseases for Argininemia

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Diseases related to Argininemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 50)
idRelated DiseaseScoreTop Affiliating Genes
1orotic aciduria29.8ASL, ASS1, OTC
2argininosuccinic aciduria29.8ASL, ASS1, OTC
3porphyria10.6
4acute porphyria10.3
5coproporphyria10.2
6porphyria, congenital erythropoietic10.2
7porphyria, acute intermittent10.2
8cutaneous porphyria10.2
9ischemia10.2
10congenital porphyria10.2
11spastic diplegia10.2
12spasticity10.2
13anemia, sideroblastic, pyridoxine-refractory, autosomal recessive10.2
14coronary heart disease 610.2
15skin conditions10.2
16skin disease10.2
17cerebral palsy10.1
18status epilepticus10.1
19cerebritis10.1
20hyperammonemia10.1
21hepatitis10.1
22neuronitis10.1
23cholestasis10.1
24neonatal jaundice10.1
25uremia10.1
26spastic paraparesis10.1
27carbamoylphosphate synthetase i deficiency10.1
28ornithine transcarbamylase deficiency10.1
29coronary heart disease 210.0
30coronary artery disease10.0
31coronary heart disease 510.0
32trichohepatoenteric syndrome 210.0
33coronary heart disease 710.0
34coronary heart disease 310.0
35acute kidney failure10.0
36acute liver failure10.0
37ischemic heart disease10.0
38homocystinuria10.0
39bacterial vaginosis10.0
40impaired renal function disease10.0
41urinary system disease10.0
42isolated dandy-walker malformation9.9ASS1, OTC
43propionicacidemia9.9ASS1, OTC
44senile degeneration of brain9.9ASS1, OTC
45hyperleucine-isoleucinemia9.8ASL, OTC
46mental retardation, x-linked, syndromic 179.8ASL, ASS1, OTC
47citrullinemia9.8ASL, ASS1, OTC
48immunodeficiency 7, tcr-alpha/beta deficient9.7ASL, ASS1, OTC
49vocal cord scarring9.6ARG1, ASL, ASS1, OTC
50argininemia9.1ARG1, ARG2, ASL, ASS1, NACC1, OTC

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

Symptoms:

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

HPO human phenotypes related to Argininemia:

(show all 21)
id Description Frequency HPO Source Accession
1 behavioral abnormality hallmark (90%) HP:0000708
2 neurological speech impairment hallmark (90%) HP:0002167
3 aminoaciduria hallmark (90%) HP:0003355
4 cognitive impairment hallmark (90%) HP:0100543
5 seizures typical (50%) HP:0001250
6 hyperammonemia typical (50%) HP:0001987
7 eeg abnormality typical (50%) HP:0002353
8 hemiplegia/hemiparesis typical (50%) HP:0004374
9 autosomal recessive inheritance HP:0000007
10 irritability HP:0000737
11 hyperactivity HP:0000752
12 intellectual disability HP:0001249
13 seizures HP:0001250
14 global developmental delay HP:0001263
15 hyperammonemia HP:0001987
16 vomiting HP:0002013
17 anorexia HP:0002039
18 progressive spastic quadriplegia HP:0002478
19 oroticaciduria HP:0003218
20 diaminoaciduria HP:0008339
21 postnatal growth retardation HP:0008897

Drugs & Therapeutics for Argininemia

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1arginineNutraceutical346

Interventional clinical trials:

idNameStatusNCT IDPhase
1A Study of AEB1102 in Patients With Arginase I DeficiencyNot yet recruitingNCT02488044Phase 1
2Arginine Feeding: a Novel Strategy to Improve Protein Metabolism in Cancer and the Response to SurgeryActive, not recruitingNCT00497380
3The 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 Deficiency22 24 ARG1

Anatomical Context for Argininemia

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MalaCards organs/tissues related to Argininemia:

33
Liver, Brain

Animal Models for Argininemia or affiliated genes

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MGI Mouse Phenotypes related to Argininemia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.1ARG1, ARG2, ASL, ASS1, NACC1, OTC

Publications for Argininemia

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Articles related to Argininemia:

(show all 18)
idTitleAuthorsYear
1
Liver transplantation prevents progressive neurological impairment in argininemia. (23559324)
2013
2
Epilepsia Partialis Continua and Generalized Nonconvulsive Status Epilepticus during the Course of Argininemia: A Report on Two Cases. (24258525)
2013
3
Case Report of Argininemia: The Utility of the Arginine/Ornithine Ratio for Newborn Screening (NBS). (23430558)
2013
4
Five novel mutations in ARG1 gene in Chinese patients of argininemia. (23859858)
2013
5
Argininemia presenting with progressive spastic diplegia. (21310339)
2011
6
Guanidino compound levels in blood, cerebrospinal fluid, and post-mortem brain material of patients with argininemia. (20176499)
2010
7
Identification of a novel R21X mutation in the liver-type arginase gene (ARG1) in four Portuguese patients with argininemia. (10502833)
1999
8
Argininemia: a treatable genetic cause of progressive spastic diplegia simulating cerebral palsy: case reports and literature review. (9378897)
1997
9
Molecular basis of phenotypic variation in patients with argininemia. (7649538)
1995
10
Three novel mutations in the liver-type arginase gene in three unrelated Japanese patients with argininemia. (1463019)
1992
11
Molecular basis of argininemia. Identification of two discrete frame-shift deletions in the liver-type arginase gene. (2365823)
1990
12
Argininemia. (2638334)
1989
13
A successful trial of enzyme replacement therapy in a case of argininemia. (6729810)
1984
14
Clinical and biochemical findings in argininemia. (7164891)
1982
15
Argininemia: report of a new case and mechanisms of orotic aciduria and hyperammonemia. (7164892)
1982
16
Argininemia treated from birth. (480013)
1979
17
Arginase deficiency in multiple tissues in argininemia. (624188)
1978
18
Argininemia. (839367)
1977

Variations for Argininemia

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UniProtKB/Swiss-Prot genetic disease variations for Argininemia:

67
id Symbol AA change Variation ID SNP ID
1ARG1p.Gly235ArgVAR_000674
2ARG1p.Ile11ThrVAR_015594rs28941474
3ARG1p.Gly138ValVAR_015595
4ARG1p.Gly27AspVAR_072164
5ARG1p.Gly74ValVAR_072165
6ARG1p.Ala125ValVAR_072166
7ARG1p.Thr134IleVAR_072167
8ARG1p.Arg180ThrVAR_072168
9ARG1p.Arg308GlnVAR_072169

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
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 variantPathogenicrs587776539GRCh37Chr 6, 131894480: 131894480
11ARG1ARG1, IVS4AS, 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 Argininemia

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Search GEO for disease gene expression data for Argininemia.

Pathways for genes affiliated with Argininemia

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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:00057419.4ARG1, ASS1

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

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1arginine biosynthetic process via ornithineGO:004245010.2ASL, OTC
2protein homotrimerizationGO:007020710.2ARG1, OTC
3response to amineGO:00140759.9ARG1, ASS1
4response to amino acidGO:00432009.9ARG1, ASS1
5response to steroid hormoneGO:00485459.9ARG1, ASS1
6cellular response to glucagon stimulusGO:00713779.9ARG1, ASS1
7response to peptide hormoneGO:00434349.9ARG1, ASS1
8midgut developmentGO:00074949.9ASS1, OTC
9cellular response to lipopolysaccharideGO:00712229.9ARG1, ASS1
10arginine metabolic processGO:00065259.9ARG1, ARG2
11arginine catabolic processGO:00065279.8ARG1, ASL
12arginine biosynthetic processGO:00065269.8ASL, ASS1
13liver developmentGO:00018899.5ARG1, ASS1, OTC
14response to zinc ionGO:00100439.5ARG1, ASS1, OTC
15cellular response to dexamethasone stimulusGO:00715499.4ARG1, ASS1
16response to drugGO:00424938.7ARG1, ASS1, OTC
17urea cycleGO:00000508.4ARG1, ARG2, ASL, ASS1, OTC
18polyamine metabolic processGO:00065958.4ARG1, ARG2, ASL, ASS1, OTC
19cellular nitrogen compound metabolic processGO:00346417.9ARG1, ARG2, ASL, ASS1, OTC
20small molecule metabolic processGO:00442817.8ARG1, ARG2, ASL, ASS1, OTC

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

idNameGO IDScoreTop Affiliating Genes
1arginase activityGO:00040539.7ARG1, ARG2
2hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidinesGO:00168139.4ARG1, ARG2
3amino acid bindingGO:00165979.4ASS1, OTC

Sources for Argininemia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet