MCID: ARG007
MIFTS: 48

Argininemia malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases

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, 36MeSH, 65UMLS, 24GTR, 27ICD10, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Argininemia:

Name: Argininemia 49 10 11 45 23 51 67
Hyperargininemia 10 21 45 22 23 47 12 51 67 36 65
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

Characteristics:

Orphanet epidemiological data:

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

HPO:

61
argininemia:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 207800
Disease Ontology10 DOID:9278
ICD1027 E72.21
MeSH36 D020162
NCIt42 C84568
SNOMED-CT59 124518006, 23501004
Orphanet51 90
ICD10 via Orphanet28 E72.2
MESH via Orphanet37 D020162
UMLS via Orphanet66 C0268548
MedGen34 C0268548
UMLS65 C0268548

Summaries for Argininemia

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NIH Rare Diseases:45 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 carbamoylphosphate synthetase i deficiency and argininosuccinic aciduria, and has symptoms including cognitive impairment, aminoaciduria and neurological speech impairment. 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 colon, and related mouse phenotypes are integument and behavior/neurological.

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 NBK1159

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
1carbamoylphosphate synthetase i deficiency30.5ASS1, OTC
2argininosuccinic aciduria10.4
3ornithine transcarbamylase deficiency10.4
4netherton syndrome10.2
5muscle disorders10.2
6angular cheilitis10.2
7reye syndrome10.2
8cheilitis10.2
9vaginitis10.2
10antiphospholipid syndrome10.2
11retinitis10.2
12hermaphroditism10.2
13hyperglycemia10.2
14learning disability10.2
15meningitis10.2
16tuberculous meningitis10.2
17postherpetic neuralgia10.2
18myocardial infarction10.2
19hepatitis c virus10.2
20bloom syndrome10.2
21panic disorder10.2
22fragile x syndrome10.2
23acute myocardial infarction10.2
24hepatitis10.2
25leukemia10.2
26lymphoblastic leukemia10.2
27guillain-barre syndrome10.2
28hyperparathyroidism10.2
29ventricular septal defect10.2
30hepatitis c10.2
31cervicitis10.2
32thoracic outlet syndrome10.2
33seminoma10.2
34postcholecystectomy syndrome10.2
35nonalcoholic steatohepatitis10.2
36white fibrous papulosis of the neck10.2
37otitis media10.0
38intermittent claudication10.0
39hemiplegia10.0
40gingivitis10.0
41external pathological resorption9.9ASS1, OTC
42hyperleucine-isoleucinemia9.9ASL, OTC
43maple syrup urine disease, type ii9.7ACADS, OTC
44propionicacidemia9.7ASS1, OTC
45shwachman-diamond syndrome9.6ASL, ASS1, OTC
46mental retardation, x-linked, syndromic 179.6ASL, ASS1, OTC
47orotic aciduria9.6ASL, ASS1, OTC
48leukemia, chronic lymphocytic 39.1ACADS, ASL, ASS1, OTC
49vocal cord scarring8.9ACADS, ARG1, ASL, ASS1, OTC
50deafness, autosomal dominant 108.6ACADS, ARG1, 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 20)
id Description Frequency HPO Source Accession
1 cognitive impairment hallmark (90%) HP:0100543
2 aminoaciduria hallmark (90%) HP:0003355
3 neurological speech impairment hallmark (90%) HP:0002167
4 behavioral abnormality hallmark (90%) HP:0000708
5 hemiplegia/hemiparesis typical (50%) HP:0004374
6 eeg abnormality typical (50%) HP:0002353
7 hyperammonemia typical (50%) HP:0001987
8 seizures typical (50%) HP:0001250
9 postnatal growth retardation HP:0008897
10 diaminoaciduria HP:0008339
11 oroticaciduria HP:0003218
12 progressive spastic quadriplegia HP:0002478
13 anorexia HP:0002039
14 vomiting HP:0002013
15 hyperammonemia HP:0001987
16 global developmental delay HP:0001263
17 seizures HP:0001250
18 intellectual disability HP:0001249
19 hyperactivity HP:0000752
20 irritability HP:0000737

Drugs & Therapeutics for Argininemia

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Vaccines6085
2arginineNutraceutical364

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 ARG1

Anatomical Context for Argininemia

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MalaCards organs/tissues related to Argininemia:

33
Colon

Animal Models for Argininemia or affiliated genes

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MGI Mouse Phenotypes related to Argininemia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.3ACADS, ASL, ASS1, OTC
2MP:00053867.6ACADS, ASL, ASS1, NACC1, OTC
3MP:00107687.1ACADS, ARG1, ASL, ASS1, NACC1, OTC
4MP:00053766.8ACADS, ARG1, ASL, ASS1, NACC1, OTC

Publications for Argininemia

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Articles related to Argininemia:

(show all 18)
idTitleAuthorsYear
1
Stop before you saccade: Looking into an artificial peripheral scotoma. (26067525)
2015
2
Muscle Hypertrophy in a Patient with Immunoglobulin D Multiple Myeloma. (26450278)
2015
3
Partial vision recovery after iatrogenic retinal artery occlusion. (25306218)
2014
4
Assessing the prevalence of PINK1 genetic variants in South African patients diagnosed with early- and late-onset Parkinson's disease. (20558144)
2010
5
Thoracoscopic lobectomy as a treatment option for persistent middle lobe syndrome in children. (20500467)
2010
6
Immune stimulatory effects of Loranthi ramulus on macrophages through the increase of NO and TNF-alpha. (19555217)
2009
7
Predictive value of telomerase reverse transcriptase expression in patients with high risk superficial bladder cancer treated with adjuvant BCG immunotherapy. (19214569)
2009
8
Angiogenesis drives psoriasis pathogenesis. (19563608)
2009
9
Assessment and statistics of surgically induced astigmatism. (18373792)
2008
10
NF-kappaB-dependency and consequent regulation of IL-8 in echinomycin-induced apoptosis of HT-29 colon cancer cells. (18675368)
2008
11
The structural basis for the pathophysiological relevance of PAI-I in cardiovascular diseases and the development of potential PAI-I inhibitors. (14983217)
2004
12
Renal Doppler ultrasound examination of ureteral obstruction in rabbits: effects of different sites and degrees of obstruction on renal resistive index. (15308935)
2004
13
Did an epidemic of tularemia in Ancient Egypt affect the course of world history? (15488667)
2004
14
The many faces of PHACE syndrome. (11445804)
2001
15
Fasting hypoglycemia is common during maintenance therapy for childhood acute lymphoblastic leukemia. (11241057)
2001
16
Nuclear translocation of TSC-22 (TGF-beta-stimulated clone-22) concomitant with apoptosis: TSC-22 as a putative transcriptional regulator. (11095965)
2000
17
The effects of insulin, and insulin-like growth factors I and II on human ovarian follicles in long-term culture. (10908278)
2000
18
Hantavirus pulmonary syndrome--United States, 1995 and 1996. (8598827)
1996

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 11)
idNameGO IDScoreTop Affiliating Genes
1protein homotrimerizationGO:007020710.1ARG1, OTC
2urea cycleGO:000005010.0ARG1, ASL
3response to steroid hormoneGO:00485459.8ARG1, ASS1
4response to amino acidGO:00432009.8ARG1, ASS1
5response to amineGO:00140759.6ARG1, ASS1
6polyamine metabolic processGO:00065959.5ARG1, ASL, OTC
7response to peptide hormoneGO:00434349.3ARG1, ASS1
8response to zinc ionGO:00100439.2ARG1, ASS1, OTC
9cellular response to lipopolysaccharideGO:00712229.1ARG1, ASS1
10liver developmentGO:00018899.0ARG1, ASS1, OTC
11cellular nitrogen compound metabolic processGO:00346418.9ASL, ASS1, 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