PedAM
Pediatric Disease Annotations & Medicines
| alport syndrome | ||||
| Disease ID | 286 |
|---|---|
| Disease | alport syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:33) HP:0000407 | Sensorineural hearing impairment HP:0010741 | Edema of the lower limbs HP:0003363 | Abdominal situs inversus HP:0000980 | Pallor HP:0001882 | Leukopenia HP:0001824 | Weight loss HP:0100273 | Neoplasm of the colon HP:0002015 | Dysphagia HP:0100820 | Glomerulopathy HP:0010784 | Uterine neoplasm HP:0000488 | Retinopathy HP:0007754 | Macular dystrophy HP:0000545 | Myopia HP:0002315 | Headache HP:0000360 | Tinnitus HP:0000822 | Hypertension HP:0000083 | Renal insufficiency HP:0002094 | Dyspnea HP:0000093 | Proteinuria HP:0002013 | Vomiting HP:0000100 | Nephrotic syndrome HP:0001873 | Thrombocytopenia HP:0011527 | Lentiglobus HP:0012378 | Fatigue HP:0000790 | Hematuria HP:0000958 | Dry skin HP:0000518 | Cataract HP:0001131 | Corneal dystrophy HP:0100539 | Periorbital edema HP:0011380 | Morphological abnormality of the semicircular canal HP:0001482 | Subcutaneous nodule HP:0000613 | Photophobia HP:0006756 | Diffuse leiomyomatosis |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:15) HP:0011508 | Macular hole | 5 HP:0001142 | Lenticonus | 4 HP:0003774 | End-stage renal failure | 4 HP:0011501 | Anterior lenticonus | 4 HP:0000083 | Renal insufficiency | 4 HP:0000093 | Proteinuria | 3 HP:0006756 | Diffuse leiomyomatosis | 3 HP:0007401 | Macular atrophy | 2 HP:0011502 | Posterior lenticonus | 1 HP:0030502 | Retinoschisis | 1 HP:0001249 | Mental retardation | 1 HP:0030760 | Kidney fibrosis | 1 HP:0000407 | sensorineural hearing loss | 1 HP:0001519 | Dolichostenomelia | 1 HP:0000365 | Hearing impairment | 1 |
| Disease ID | 286 |
|---|---|
| Disease | alport syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:16) C1963229 | retinal detachment C1962983 | cataract C1962972 | proteinuria C1962966 | retinopathy C0730290 | cone dystrophy C0206654 | leiomyomatosis C0151650 | renal fibrosis C0027697 | nephritis C0024441 | macular hole C0022661 | end-stage renal failure C0022661 | end-stage renal disease C0022661 | chronic renal failure C0022658 | renal disease C0022658 | nephropathy C0018784 | sensorineural hearing loss C0010036 | corneal dystrophy |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:8) C0024441 | macular hole | 5 C0206654 | leiomyomatosis | 4 C0022658 | renal disease | 3 C0033687 | proteinuria | 3 C0022661 | end-stage renal disease | 2 C0022661 | chronic renal failure | 1 C0022661 | end-stage renal failure | 1 C0018784 | sensorineural hearing loss | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:5) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104886091 | 1363780 | 1287 | COL4A5 | umls:C1567741 | BeFree | De novo mutation in the COL4A5 gene converting glycine 325 to glutamic acid in Alport syndrome. | 0.033430958 | 1992 | COL4A5 | X | 108582921 | G | A |
| rs104886308 | 9150741 | 1287 | COL4A5 | umls:C1567741 | BeFree | Common ancestry of three Ashkenazi-American families with Alport syndrome and COL4A5 R1677Q. | 0.033430958 | 1997 | COL4A5 | X | 108696350 | G | A,C,T |
| rs200107989 | 21897443 | 1286 | COL4A4 | umls:C1567741 | BeFree | The application of this technology allowed us to identify the second mutation in two ATS patients (p.Ser1147Phe in COL4A3 and p.Arg1682Trp in COL4A4) and to reconsider the diagnosis of ATS in a third patient. | 0.008414698 | 2012 | COL4A3;LOC654841 | 2 | 227294985 | C | T |
| rs200107989 | 21897443 | 1285 | COL4A3 | umls:C1567741 | BeFree | The application of this technology allowed us to identify the second mutation in two ATS patients (p.Ser1147Phe in COL4A3 and p.Arg1682Trp in COL4A4) and to reconsider the diagnosis of ATS in a third patient. | 0.011672 | 2012 | COL4A3;LOC654841 | 2 | 227294985 | C | T |
| rs375290088 | 24262798 | 1285 | COL4A3 | umls:C1567741 | BeFree | Similar results were observed in a novel knockin mouse carrying the Col4a3-G1332E mutation, which produced a phenotype consistent with AS, and in biopsy specimens from patients with TBMN carrying a heterozygous COL4A3-G1334E mutation. | 0.011672 | 2014 | COL4A3;LOC654841 | 2 | 227303904 | G | 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.) | |