eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| arginase deficiency | ||||
| Disease ID | 400 |
|---|---|
| Disease | arginase deficiency |
| Definition | A rare autosomal recessive disorder of the urea cycle. It is caused by a deficiency of the hepatic enzyme ARGINASE. Arginine is elevated in the blood and cerebrospinal fluid, and periodic HYPERAMMONEMIA may occur. Disease onset is usually in infancy or early childhood. Clinical manifestations include seizures, microcephaly, progressive mental impairment, hypotonia, ataxia, spastic diplegia, and quadriparesis. (From Hum Genet 1993 Mar;91(1):1-5; Menkes, Textbook of Child Neurology, 5th ed, p51) |
| Synonym | arg1 deficiencies arg1 deficiency argi deficiency arginase defic dis arginase deficiencies arginase deficiency (disorder) arginase deficiency disease arginase deficiency diseases argininaemia argininemia defic dis arginase deficiencies, arg1 deficiencies, arginase deficiency disease, arginase deficiency diseases, arginase deficiency of arginase deficiency of arginase (disorder) deficiency of arginine amidinase deficiency of canavanase deficiency, arg1 deficiency, arginase hyperargininaemia hyperargininemia hyperargininemia [disease/finding] hyperargininemias |
| Orphanet | |
| OMIM | |
| DOID | |
| ICD10 | |
| UMLS | C0268548 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:4) C0034372 | tetraplegia | 1 C0023882 | spastic diplegia | 1 C0154246 | urea cycle disorders | 1 C0268548 | hyperargininemia | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:14) 37 | ACADVL | 2.782 | DISEASES 60 | ACTB | 2.298 | DISEASES 383 | ARG1 | 6.231 | DISEASES 406 | ARNTL | 2.302 | DISEASES 875 | CBS | 1.674 | DISEASES 953 | ENTPD1 | 2.187 | DISEASES 3030 | HADHA | 1.941 | DISEASES 3155 | HMGCL | 3.33 | DISEASES 7849 | PAX8 | 1.806 | DISEASES 6906 | SERPINA7 | 2.146 | DISEASES 9376 | SLC22A8 | 2.929 | DISEASES 10165 | SLC25A13 | 2.578 | DISEASES 10166 | SLC25A15 | 3.163 | DISEASES 23038 | WDTC1 | 2.172 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 400 |
|---|---|
| Disease | arginase deficiency |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:7) HP:0002385 | Paraparesis | 1 HP:0001987 | Hyperammonemia | 1 HP:0002510 | Spastic quadriplegia | 1 HP:0001264 | Spastic diplegia | 1 HP:0002313 | Spastic paraparesis | 1 HP:0002445 | Paralysis of all four limbs | 1 HP:0001250 | Seizures | 1 |
| Disease ID | 400 |
|---|---|
| Disease | arginase deficiency |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:3) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:4) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104893944 | 10502833 | 383 | ARG1 | umls:C0268548 | BeFree | Identification of a novel R21X mutation in the liver-type arginase gene (ARG1) in four Portuguese patients with argininemia. | 0.563257302 | 1999 | ARG1;MED23 | 6 | 131576666 | C | T |
| rs28941474 | 22959135 | 383 | ARG1 | umls:C0268548 | UNIPROT | Analysis of novel ARG1 mutations causing hyperargininemia and correlation with arginase I activity in erythrocytes. | 0.563257302 | 2012 | ARG1 | 6 | 131573314 | T | C |
| rs28941474 | NA | 383 | ARG1 | umls:C0268548 | CLINVAR | NA | 0.563257302 | NA | ARG1 | 6 | 131573314 | T | C |
| rs587776539 | NA | 383 | ARG1 | umls:C0268548 | CLINVAR | NA | 0.563257302 | NA | ARG1 | 6 | 131573340 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 400 |
|---|---|
| Disease | arginase deficiency |
| Case | (Waiting for update.) |