MCID: ARG007
MIFTS: 36

Argininemia malady

Genetic diseases, Rare diseases, Metabolic diseases categories

Aliases & Classifications for Argininemia

About this section
Sources:
45OMIM, 9Disease Ontology, 10diseasecard, 19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 55SNOMED-CT, 33MeSH, 38NCIt, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Argininemia, Aliases & Descriptions:

Name: Argininemia 45 9 10 41 21 47
Hyperargininemia 9 19 41 21 11 43 47 60
Arginase Deficiency 9 19 41 20 21 47
 
Arginase Deficiency Disease 21 22
Arg1 Deficiency 41 21
Deficiency of Canavanase 9


Classifications:



Characteristics (Orphanet epidemiological data):

47
hyperargininemia:
Inheritance: Autosomal recessive; Age of onset: Childhood,Infancy


External Ids:

OMIM45 207800
Disease Ontology9 DOID:9278
MeSH33 D020162
NCIt38 C84568
SNOMED-CT55 23501004, 124518006
Orphanet47 90
MESH via Orphanet34 D020162
ICD10 via Orphanet26 E72.2
UMLS via Orphanet61 C0268548

Summaries for Argininemia

About this section


NIH Rare Diseases:41 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 spastic diplegia and spasticity, and has symptoms including behavioral abnormality, neurological speech impairment and aminoaciduria. An important gene associated with Argininemia is ARG1 (arginase 1). Affiliated tissues include liver.

Disease Ontology:9 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.

OMIM:45 Arginase deficiency is an autosomal recessive inborn error of metabolism caused by a defect in the final step in the... (207800) more...

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

GeneReviews summary for arg1

Related Diseases for Argininemia

About this section

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

(show all 15)
idRelated DiseaseScoreTop Affiliating Genes
1spastic diplegia10.2
2spasticity10.2
3argininosuccinic aciduria10.1
4ornithine transcarbamylase deficiency10.1
5carbamoylphosphate synthetase i deficiency10.1
6orotic aciduria10.0
7cerebral palsy10.0
8status epilepticus10.0
9cerebritis10.0
10hepatitis10.0
11neuronitis10.0
12cholestasis10.0
13neonatal jaundice10.0
14uremia10.0
15spastic paraparesis10.0

Graphical network of diseases related to Argininemia:



Diseases related to argininemia

Symptoms for Argininemia

About this section

Symptoms by clinical synopsis from OMIM:

207800

Clinical features from OMIM:

207800

Symptoms:

 47 (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

About this section

Drug clinical trials:

Search ClinicalTrials for Argininemia

Search NIH Clinical Center for Argininemia

Genetic Tests for Argininemia

About this section

Genetic tests related to Argininemia:

id Genetic test Affiliating Genes
1 Arginase Deficiency20 22 ARG1

Anatomical Context for Argininemia

About this section

MalaCards organs/tissues related to Argininemia:

31
Liver

Animal Models for Argininemia or affiliated genes

About this section

Publications for Argininemia

About this section

Articles related to Argininemia:

idTitleAuthorsYear
1
Epilepsia Partialis Continua and Generalized Nonconvulsive Status Epilepticus during the Course of Argininemia: A Report on Two Cases. (24258525)
2013
2
Five novel mutations in ARG1 gene in Chinese patients of argininemia. (23859858)
2013
3
Argininemia presenting with progressive spastic diplegia. (21310339)
2011
4
Identification of a novel R21X mutation in the liver-type arginase gene (ARG1) in four Portuguese patients with argininemia. (10502833)
1999
5
Argininemia: a treatable genetic cause of progressive spastic diplegia simulating cerebral palsy: case reports and literature review. (9378897)
1997
6
Molecular basis of phenotypic variation in patients with argininemia. (7649538)
1995
7
Three novel mutations in the liver-type arginase gene in three unrelated Japanese patients with argininemia. (1463019)
1992
8
Molecular basis of argininemia. Identification of two discrete frame-shift deletions in the liver-type arginase gene. (2365823)
1990
9
Argininemia: report of a new case and mechanisms of orotic aciduria and hyperammonemia. (7164892)
1982

Variations for Argininemia

About this section

UniProtKB/Swiss-Prot genetic disease variations for Argininemia:

62
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:

6 (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 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 Argininemia

About this section
Search GEO for disease gene expression data for Argininemia.

Pathways for genes affiliated with Argininemia

About this section

Compounds for genes affiliated with Argininemia

About this section

GO Terms for genes affiliated with Argininemia

About this section

Products for genes affiliated with Argininemia

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Argininemia

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet