PedAM
Pediatric Disease Annotations & Medicines
| adenine phosphoribosyltransferase deficiency | ||||
| Disease ID | 300 |
|---|---|
| Disease | adenine phosphoribosyltransferase deficiency |
| Definition | An inherited condition caused by mutations in the APRT gene that affects the kidneys and urinary tract. The most common feature of this condition is recurrent kidney stones. |
| Synonym | adenine phosphoribosyl transferase deficiency adenine phosphoribosyltransferase deficiency (disorder) aprt deficiency aprtd deficiency of adenine phosphoribosyltransferase deficiency of adenine phosphoribosyltransferase (disorder) deficiency of amp pyrophorylase deficiency of transphosphoribosidase |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0268120 |
| 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:28) 158 | ADSL | DISEASES 6348 | CCL3 | DISEASES 6928 | HNF1B | DISEASES 7372 | UMPS | DISEASES 2956 | MSH6 | DISEASES 7389 | UROD | DISEASES 1535 | CYBA | DISEASES 3931 | LCAT | DISEASES 10686 | CLDN16 | DISEASES 5395 | PMS2 | DISEASES 2588 | GALNS | DISEASES 1807 | DPYS | DISEASES 132 | ADK | DISEASES 729230 | CCR2 | DISEASES 152185 | SPICE1 | DISEASES 3251 | HPRT1 | DISEASES 189 | AGXT | DISEASES 7369 | UMOD | DISEASES 1191 | CLU | DISEASES 4860 | PNP | DISEASES 4519 | MT-CYB | DISEASES 100 | ADA | DISEASES 229 | ALDOB | DISEASES 7507 | XPA | DISEASES 353 | APRT | DISEASES 7498 | XDH | DISEASES 54790 | TET2 | DISEASES 23109 | DDN | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) APRT | 16q24.3 |
| Disease ID | 300 |
|---|---|
| Disease | adenine phosphoribosyltransferase deficiency |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:6) HP:0000787 | Nephrolithiasis HP:0000010 | Recurrent urinary tract infections HP:0000790 | Hematuria HP:0000083 | Renal insufficiency HP:0100518 | Dysuria HP:0003774 | Stage 5 chronic kidney disease |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 300 |
|---|---|
| Disease | adenine phosphoribosyltransferase deficiency |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:2) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
All Snps(Total Genotypes:13) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894506 | NA | 353 | APRT | umls:C0268120 | CLINVAR | NA | 0.442714419 | NA | APRT | 16 | 88810550 | T | A |
| rs104894507 | NA | 353 | APRT | umls:C0268120 | CLINVAR | NA | 0.442714419 | NA | APRT | 16 | 88810450 | C | T |
| rs104894508 | NA | 353 | APRT | umls:C0268120 | CLINVAR | NA | 0.442714419 | NA | APRT | 16 | 88810141 | A | G |
| rs121912681 | NA | 353 | APRT | umls:C0268120 | CLINVAR | NA | 0.442714419 | NA | APRT;CDT1 | 16 | 88809722 | GAA | - |
| rs200392753 | 15571218 | 353 | APRT | umls:C0268120 | BeFree | We investigated the APRT gene from three patients with APRT deficiency and two novel mutations, G133D and V84M, were determined. | 0.442714419 | 2004 | APRT | 16 | 88810494 | C | T |
| rs200392753 | 15571218 | 353 | APRT | umls:C0268120 | UNIPROT | We investigated the APRT gene from three patients with APRT deficiency and two novel mutations, G133D and V84M, were determined. | 0.442714419 | 2004 | APRT | 16 | 88810494 | C | T |
| rs281860263 | NA | 353 | APRT | umls:C0268120 | CLINVAR | NA | 0.442714419 | NA | APRT | 16 | 88810420 | - | A |
| rs281860265 | NA | 353 | APRT | umls:C0268120 | CLINVAR | NA | 0.442714419 | NA | APRT | 16 | 88810482 | - | TCGG |
| rs281860266 | NA | 353 | APRT | umls:C0268120 | CLINVAR | NA | 0.442714419 | NA | APRT | 16 | 88809793 | C | A |
| rs28999113 | 21635362 | 353 | APRT | umls:C0268120 | UNIPROT | A Japanese boy with adenine phosphoribosyltransferase (APRT) deficiency caused by compound heterozygosity including a novel missense mutation in APRT gene. | 0.442714419 | 2011 | APRT | 16 | 88809834 | A | G |
| rs28999113 | NA | 353 | APRT | umls:C0268120 | CLINVAR | NA | 0.442714419 | NA | APRT | 16 | 88809834 | A | G |
| rs387906584 | NA | 353 | APRT | umls:C0268120 | CLINVAR | NA | 0.442714419 | NA | APRT;CDT1 | 16 | 88809699 | C | G |
| rs745594160 | NA | 353 | APRT | umls:C0268120 | CLINVAR | NA | 0.442714419 | NA | APRT | 16 | 88810067 | - | A |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
Chemical(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA approved drug and dosage information(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
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| (Waiting for update.) | |