MCID: ARG007
MIFTS: 50

Argininemia malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Argininemia

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Sources:
50OMIM, 11Disease Ontology, 46NIH Rare Diseases, 24Genetics Home Reference, 52Orphanet, 68UniProtKB/Swiss-Prot, 12diseasecard, 22GeneReviews, 23GeneTests, 13DISEASES, 48Novoseek, 37MeSH, 66UMLS, 25GTR, 28ICD10, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Argininemia:

Name: Argininemia 50 11 46 24 52 68 12
Hyperargininemia 11 22 46 23 24 13 52 68 48 37 66
Arginase Deficiency 11 22 46 23 24 52 68
Arg1 Deficiency 46 24 68
 
Arginase Deficiency Disease 24 25
Deficiency of Canavanase 11
Arginase-1 Deficiency 68
Argin 68

Characteristics:

Orphanet epidemiological data:

52
hyperargininemia:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Europe); Age of onset: Childhood,Infancy

HPO:

62
argininemia:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 207800
Disease Ontology11 DOID:9278
ICD1028 E72.21
MeSH37 D020162
NCIt43 C84568
SNOMED-CT60 124518006, 23501004
Orphanet52 ORPHA90
ICD10 via Orphanet29 E72.2
MESH via Orphanet38 D020162
UMLS via Orphanet67 C0268548
MedGen35 C0268548

Summaries for Argininemia

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NIH Rare Diseases:46 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 porphyria, 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:24 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:50 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:68 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:69 Argininemia, also called arginase deficiency, is an autosomal recessiveurea cycle disorder where a... more...

GeneReviews summary 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

Symptoms:

 52 (show all 10)
  • behavioral abnormality
  • seizures
  • global developmental delay
  • hyperammonemia
  • neurological speech impairment
  • eeg abnormality
  • progressive spastic quadriplegia
  • hemiplegia/hemiparesis
  • diaminoaciduria
  • intellectual disability, severe

HPO human phenotypes related to Argininemia:

(show all 20)
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 irritability HP:0000737
10 hyperactivity HP:0000752
11 intellectual disability HP:0001249
12 seizures HP:0001250
13 global developmental delay HP:0001263
14 hyperammonemia HP:0001987
15 vomiting HP:0002013
16 anorexia HP:0002039
17 progressive spastic quadriplegia HP:0002478
18 oroticaciduria HP:0003218
19 diaminoaciduria HP:0008339
20 postnatal growth retardation HP:0008897

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
1arginineNutraceutical393

Interventional clinical trials:

idNameStatusNCT IDPhase
1A Study of AEB1102 in Patients With Arginase I DeficiencyRecruitingNCT02488044Phase 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 Deficiency25 23 ARG1

Anatomical Context for Argininemia

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MalaCards organs/tissues related to Argininemia:

34
Liver, Brain

Animal Models for Argininemia or affiliated genes

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MGI Mouse Phenotypes related to Argininemia:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.5ASL, ASS1, NAGS, OTC
2MP:00053867.2ASL, ASS1, NACC1, NAGS, OTC
3MP:00107687.1ARG1, ASL, ASS1, NACC1, NAGS, OTC
4MP:00053767.1ARG1, ASL, ASS1, NACC1, NAGS, OTC

Publications for Argininemia

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Articles related to Argininemia:

(show all 20)
idTitleAuthorsYear
1
Argininemia and plasma arginine bioavailability - predictive factors of mortality in the severe trauma patients? (27582779)
2016
2
Argininemia as a cause of severe chronic stunting in a low-resource developing country setting: a case report. (27549856)
2016
3
Liver transplantation prevents progressive neurological impairment in argininemia. (23559324)
2013
4
Epilepsia Partialis Continua and Generalized Nonconvulsive Status Epilepticus during the Course of Argininemia: A Report on Two Cases. (24258525)
2013
5
Case Report of Argininemia: The Utility of the Arginine/Ornithine Ratio for Newborn Screening (NBS). (23430558)
2013
6
Five novel mutations in ARG1 gene in Chinese patients of argininemia. (23859858)
2013
7
Argininemia presenting with progressive spastic diplegia. (21310339)
2011
8
Guanidino compound levels in blood, cerebrospinal fluid, and post-mortem brain material of patients with argininemia. (20176499)
2010
9
Identification of a novel R21X mutation in the liver-type arginase gene (ARG1) in four Portuguese patients with argininemia. (10502833)
1999
10
Argininemia: a treatable genetic cause of progressive spastic diplegia simulating cerebral palsy: case reports and literature review. (9378897)
1997
11
Molecular basis of phenotypic variation in patients with argininemia. (7649538)
1995
12
Three novel mutations in the liver-type arginase gene in three unrelated Japanese patients with argininemia. (1463019)
1992
13
Molecular basis of argininemia. Identification of two discrete frame-shift deletions in the liver-type arginase gene. (2365823)
1990
14
Argininemia. (2638334)
1989
15
A successful trial of enzyme replacement therapy in a case of argininemia. (6729810)
1984
16
Argininemia: report of a new case and mechanisms of orotic aciduria and hyperammonemia. (7164892)
1982
17
Clinical and biochemical findings in argininemia. (7164891)
1982
18
Argininemia treated from birth. (480013)
1979
19
Arginase deficiency in multiple tissues in argininemia. (624188)
1978
20
Argininemia. (839367)
1977

Variations for Argininemia

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UniProtKB/Swiss-Prot genetic disease variations for Argininemia:

68
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 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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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
1cellular response to glucagon stimulusGO:007137710.0ARG1, ASS1
2protein homotrimerizationGO:007020710.0ARG1, OTC
3arginine biosynthetic process via ornithineGO:004245010.0ASL, OTC
4response to amineGO:001407510.0ARG1, ASS1
5response to peptide hormoneGO:00434349.9ARG1, ASS1
6arginine catabolic processGO:00065279.9ARG1, ASL
7cellular response to lipopolysaccharideGO:00712229.9ARG1, ASS1
8cellular response to dexamethasone stimulusGO:00715499.7ARG1, ASS1
9midgut developmentGO:00074949.7ASS1, OTC
10response to amino acidGO:00432009.7ARG1, ASS1
11response to steroid hormoneGO:00485459.5ARG1, ASS1
12response to zinc ionGO:00100439.3ARG1, ASS1, OTC
13liver developmentGO:00018899.2ARG1, ASS1, OTC
14arginine biosynthetic processGO:00065269.1ASL, ASS1, NAGS
15response to drugGO:00424938.6ARG1, 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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet