eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| argininosuccinic aciduria | ||||
| Disease ID | 324 |
|---|---|
| Disease | argininosuccinic aciduria |
| Definition | Rare autosomal recessive disorder of the urea cycle which leads to the accumulation of argininosuccinic acid in body fluids and severe HYPERAMMONEMIA. Clinical features of the neonatal onset of the disorder include poor feeding, vomiting, lethargy, seizures, tachypnea, coma, and death. Later onset results in milder set of clinical features including vomiting, failure to thrive, irritability, behavioral problems, or psychomotor retardation. Mutations in the ARGININOSUCCINATE LYASE gene cause the disorder. |
| Synonym | acidemia, argininosuccinate acidemias, argininosuccinate aciduria, argininosuccinic acidurias, argininosuccinic arginino succinase deficiencies arginino succinase deficiency argininosuccinate acidemia argininosuccinate acidemias argininosuccinate lyase deficiencies argininosuccinate lyase deficiency argininosuccinate lyase deficiency (disorder) argininosuccinic acid lyase deficiency argininosuccinic acidemia argininosuccinic aciduria [disease/finding] argininosuccinic acidurias argininosuccinicaciduria argininosuccinicacidurias argininosuccinyl-coa lyase deficiency arginosuccinase deficiency asa deficiencies asa deficiency asal deficiency asauria asl deficiencies asl deficiency deficiencies, arginino succinase deficiencies, argininosuccinate lyase deficiencies, asa deficiencies, asl deficiency of argininosuccinate lyase deficiency of argininosuccinate lyase (disorder) deficiency of arginosuccinase deficiency, arginino succinase deficiency, argininosuccinate lyase deficiency, asa deficiency, asl inborn error of urea synthesis, arginino succinic type urea cycle disorder, arginino succinase type |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0268547 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences: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:11) 383 | ARG1 | 2.06 | DISEASES 538 | ATP7A | 1.716 | DISEASES 1491 | CTH | 3.453 | DISEASES 10020 | GNE | 2.575 | DISEASES 3155 | HMGCL | 3.3 | DISEASES 3980 | LIG3 | 2.211 | DISEASES 5828 | PEX2 | 3.486 | DISEASES 6223 | RPS19 | 2.367 | DISEASES 10165 | SLC25A13 | 3.462 | DISEASES 10166 | SLC25A15 | 4.091 | DISEASES 348932 | SLC6A18 | 4.706 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) ASL | 7q11.21 |
| Disease ID | 324 |
|---|---|
| Disease | argininosuccinic aciduria |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:11) HP:0002353 | EEG abnormality HP:0005961 | Hypoargininemia HP:0001251 | Ataxia HP:0011362 | Abnormal hair quantity HP:0003217 | Hyperglutaminemia HP:0009886 | Trichorrhexis nodosa HP:0004322 | Short stature HP:0001987 | Hyperammonemia HP:0003218 | Oroticaciduria HP:0003355 | Aminoaciduria HP:0001249 | Intellectual disability |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 324 |
|---|---|
| Disease | argininosuccinic aciduria |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0239946 | liver fibrosis |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:16) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs145138923 | NA | 435 | ASL | umls:C0268547 | CLINVAR | NA | 0.562985861 | NA | ASL | 7 | 66081825 | G | A |
| rs28940286 | NA | 435 | ASL | umls:C0268547 | CLINVAR | NA | 0.562985861 | NA | ASL | 7 | 66092566 | C | T |
| rs28940286 | 12408190 | 435 | ASL | umls:C0268547 | UNIPROT | The five patients of different ethnic backgrounds presented with relatively mild clinical symptoms, variable age of onset, marked argininosuccinic aciduria and severe, but not complete, deficiency of argininosuccinate lyase. | 0.562985861 | 2002 | ASL | 7 | 66092566 | C | T |
| rs28940287 | 12408190 | 435 | ASL | umls:C0268547 | UNIPROT | The five patients of different ethnic backgrounds presented with relatively mild clinical symptoms, variable age of onset, marked argininosuccinic aciduria and severe, but not complete, deficiency of argininosuccinate lyase. | 0.562985861 | 2002 | ASL | 7 | 66092078 | C | G,T |
| rs28940287 | NA | 435 | ASL | umls:C0268547 | CLINVAR | NA | 0.562985861 | NA | ASL | 7 | 66092078 | C | G,T |
| rs28940585 | NA | 435 | ASL | umls:C0268547 | CLINVAR | NA | 0.562985861 | NA | ASL | 7 | 66082443 | C | A,G,T |
| rs28940585 | 2263616 | 435 | ASL | umls:C0268547 | UNIPROT | We conclude (i) that the identification of the R95C mutation in strain 944 demonstrates that virtually all ASAL deficiency results from defects in the ASAL structural gene and (ii) that minor alternative splicing of the coding region occurs at the ASAL locus. | 0.562985861 | 1990 | ASL | 7 | 66082443 | C | A,G,T |
| rs28941472 | 17326097 | 435 | ASL | umls:C0268547 | UNIPROT | Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene. | 0.562985861 | 2007 | ASL | 7 | 66089114 | A | G |
| rs28941472 | NA | 435 | ASL | umls:C0268547 | CLINVAR | NA | 0.562985861 | NA | ASL | 7 | 66089114 | A | G |
| rs28941473 | NA | 435 | ASL | umls:C0268547 | CLINVAR | NA | 0.562985861 | NA | ASL | 7 | 66086751 | G | A |
| rs28941473 | 17326097 | 435 | ASL | umls:C0268547 | UNIPROT | Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene. | 0.562985861 | 2007 | ASL | 7 | 66086751 | G | A |
| rs367543005 | 16435180 | 435 | ASL | umls:C0268547 | BeFree | We have identified a common novel mutation (Q354X) in the argininosuccinate lyase (ASL) gene in Saudi patients with argininosuccinic aciduria (ASAuria; McKusick 207900). | 0.562985861 | 2005 | ASL | 7 | 66089693 | C | T |
| rs367543005 | NA | 435 | ASL | umls:C0268547 | CLINVAR | NA | 0.562985861 | NA | ASL | 7 | 66089693 | C | T |
| rs367543006 | NA | 435 | ASL | umls:C0268547 | CLINVAR | NA | 0.562985861 | NA | ASL | 7 | 66082934 | C | T |
| rs374304304 | NA | 435 | ASL | umls:C0268547 | CLINVAR | NA | 0.562985861 | NA | ASL | 7 | 66082440 | C | T |
| rs398123126 | NA | 435 | ASL | umls:C0268547 | CLINVAR | NA | 0.562985861 | NA | ASL | 7 | 66086763 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0011362 | Abnormal hair quantity | MP:0008861 | abnormal hair shedding | anomaly in the hair cycle changes the timing of the hair loss that normally follows the anagen phase |
Mapped by homologous gene(Total Items:11) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001987 | Hyperammonemia | MP:0013405 | increased circulating lactate level | greater amount of lactate in the blood which is produced from pyruvate by lactate dehydrogenase |
| HP:0004322 | Short stature | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0011362 | Abnormal hair quantity | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001249 | Intellectual disability | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0003355 | Aminoaciduria | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002353 | EEG abnormality | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0001251 | Ataxia | MP:0020301 | short tongue | decreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor |
| HP:0009886 | Trichorrhexis nodosa | MP:0012734 | abnormal response to radiation | any anomaly in the physiological changes induced by ionizing radiation such as UV light, X-rays, or gamma rays |
| HP:0003218 | Oroticaciduria | MP:0011090 | perinatal lethality, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms within the perinatal period (Mus: E18.5 through postnatal day 1) |
| HP:0003217 | Hyperglutaminemia | MP:0011765 | oroticaciduria | increased level of orotic acid, an intermediate of pyrimidine synthesis, in the urine |
| HP:0005961 | Hypoargininemia | MP:0011087 | neonatal lethality, complete penetrance | death of all organisms of a given genotype in a population within the neonatal period after birth (Mus: P0) |
| Disease ID | 324 |
|---|---|
| Disease | argininosuccinic aciduria |
| Case | (Waiting for update.) |