eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| alport syndrome | ||||
| Disease ID | 321 |
|---|---|
| Disease | alport syndrome |
| Definition | hereditary disorder characterized by progressive sensorineural hearing loss, progressive pyelonephritis or glomerulonephritis, and, occasionally, ocular defects; transmitted as an autosomal dominant or X-linked trait. |
| Synonym | alport's syndrome alport's syndrome (disorder) alports syndrome hematuria nephropathy deafness syndrome hematuria-nephropathy-deafness syndrome hereditary nephritis hereditary nephritis alports syndrome nephritis with nerve deafness, hereditary nephropathy and deafness, hereditary syndrome alport syndrome, alport syndrome, hematuria-nephropathy-deafness |
| Orphanet | |
| DOID | |
| ICD10 | |
| UMLS | C1567741 |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:17) C0024441 | macular hole | 5 C0035078 | renal failure | 4 C0206654 | leiomyomatosis | 4 C0238114 | esophageal leiomyoma | 3 C0033687 | proteinuria | 3 C0022661 | end-stage renal disease | 2 C0035078 | kidney failure | 2 C0022658 | renal disease | 2 C0022661 | chronic renal failure | 1 C0152439 | retinoschisis | 1 C0022661 | end-stage kidney disease | 1 C0022661 | end-stage renal failure | 1 C0403529 | anti-gbm disease | 1 C0022658 | kidney disease | 1 C0018784 | sensorineural hearing loss | 1 C0403529 | antiglomerular basement membrane disease | 1 C0852949 | arterial disease | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:6) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:49) 2182 | ACSL4 | 4.404 | DISEASES 375790 | AGRN | 2.621 | DISEASES 655 | BMP7 | 1.672 | DISEASES 977 | CD151 | 2.871 | DISEASES 23607 | CD2AP | 1.579 | DISEASES 959 | CD40LG | 1.024 | DISEASES 64072 | CDH23 | 1.182 | DISEASES 7401 | CLRN1 | 1.969 | DISEASES 1282 | COL4A1 | 4.153 | DISEASES 1284 | COL4A2 | 3.258 | DISEASES 1285 | COL4A3 | 7.828 | DISEASES 1286 | COL4A4 | 7.702 | DISEASES 1287 | COL4A5 | 8.433 | DISEASES 1288 | COL4A6 | 6.699 | DISEASES 1289 | COL5A1 | 1.242 | DISEASES 1291 | COL6A1 | 1.066 | DISEASES 1297 | COL9A1 | 1.664 | DISEASES 1490 | CTGF | 1.095 | DISEASES 780 | DDR1 | 2.001 | DISEASES 1729 | DIAPH1 | 1.609 | DISEASES 2138 | EYA1 | 1.363 | DISEASES 2192 | FBLN1 | 1.179 | DISEASES 2232 | FDXR | 1.57 | DISEASES 2873 | GPS1 | 1.806 | DISEASES 3295 | HSD17B4 | 1.297 | DISEASES 3476 | IGBP1 | 3.498 | DISEASES 3619 | INCENP | 1.951 | DISEASES 64423 | INF2 | 1.55 | DISEASES 11202 | KLK8 | 1.156 | DISEASES 4010 | LMX1B | 2.494 | DISEASES 4318 | MMP9 | 1.189 | DISEASES 4693 | NDP | 1.405 | DISEASES 4868 | NPHS1 | 2.382 | DISEASES 7827 | NPHS2 | 2.912 | DISEASES 5077 | PAX3 | 1.224 | DISEASES 65217 | PCDH15 | 1.285 | DISEASES 23556 | PIGN | 2.305 | DISEASES 139728 | PNCK | 1.108 | DISEASES 57529 | RGAG1 | 2.892 | DISEASES 6297 | SALL2 | 1.886 | DISEASES 692226 | SNORD96B | 3.31 | DISEASES 6736 | SRY | 1.249 | DISEASES 25870 | SUMF2 | 1.587 | DISEASES 11346 | SYNPO | 2.293 | DISEASES 129685 | TAF8 | 1.807 | DISEASES 84187 | TMEM164 | 3.31 | DISEASES 7225 | TRPC6 | 1.472 | DISEASES 30813 | VSX1 | 1.483 | DISEASES 7490 | WT1 | 1.479 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 321 |
|---|---|
| Disease | alport syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:33) HP:0006756 | Diffuse leiomyomatosis HP:0002094 | Dyspnea HP:0002013 | Vomiting HP:0000518 | Cataract HP:0012378 | Fatigue HP:0002015 | Dysphagia HP:0000545 | Myopia HP:0001482 | Subcutaneous nodule HP:0001824 | Weight loss HP:0010784 | Uterine neoplasm HP:0007754 | Macular dystrophy HP:0000093 | Proteinuria HP:0011527 | Lentiglobus HP:0000083 | Renal insufficiency HP:0100820 | Glomerulopathy HP:0001873 | Thrombocytopenia HP:0001882 | Leukopenia HP:0011380 | Morphological abnormality of the semicircular canal HP:0000822 | Hypertension HP:0000790 | Hematuria HP:0000407 | Sensorineural hearing impairment HP:0010741 | Edema of the lower limbs HP:0003363 | Abdominal situs inversus HP:0001131 | Corneal dystrophy HP:0100273 | Neoplasm of the colon HP:0000958 | Dry skin HP:0000488 | Retinopathy HP:0000613 | Photophobia HP:0000100 | Nephrotic syndrome HP:0100539 | Periorbital edema HP:0000360 | Tinnitus HP:0000980 | Pallor HP:0002315 | Headache |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:15) HP:0011508 | Macular hole | 5 HP:0011501 | Anterior lenticonus | 4 HP:0000083 | Renal insufficiency | 4 HP:0003774 | End-stage renal failure | 4 HP:0001142 | Lenticonus | 4 HP:0006756 | Diffuse leiomyomatosis | 3 HP:0000093 | Proteinuria | 3 HP:0007401 | Macular atrophy | 2 HP:0011502 | Posterior lenticonus | 1 HP:0000407 | sensorineural hearing loss | 1 HP:0001249 | Mental retardation | 1 HP:0001519 | Dolichostenomelia | 1 HP:0000365 | Hearing impairment | 1 HP:0030760 | Kidney fibrosis | 1 HP:0030502 | Retinoschisis | 1 |
| Disease ID | 321 |
|---|---|
| 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 C0018784 | sensorineural hearing loss | 1 C0022661 | end-stage renal failure | 1 |
Manually Genotype(Total Manually Genotypes:3) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| COL4A4 | NM_000092.4: c.3979G>A, p.(Val1327Met) | doi:10.1038/gim.2016.153 | A comprehensive strategy for exome-based preconception carrier screening |
| COL4A5 | - | doi:10.1038/gim.2015.51 | Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability |
| COL4A5 | p.R1677Q | doi:10.1038/gim.2015.123 | Expanded genetic screening panel for the Ashkenazi Jewish population |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (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) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:8) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0100539 | Periorbital edema | MP:0001785 | edema | an accumulation of an excessive amount of watery fluid in cells or intercellular tissues |
| HP:0000407 | Sensorineural hearing impairment | MP:0006330 | syndromic hearing impairment | hearing impairment that is usually associated with malformations of the external ear and other inherited signs and symptoms |
| HP:0000083 | Renal insufficiency | MP:0003335 | exocrine pancreatic insufficiency | inadequate synthesis and/or secretion of digestive enzymes by the exocrine portion of the pancreas, usually due to loss of acinar tissue from idiopathic atrophy or acute or chronic inflammation, causing maldigestion and malabsorption of nutrients |
| HP:0010741 | Edema of the lower limbs | MP:0009657 | failure of chorioallantoic fusion | failure to initiate and/or complete the formation of a highly vascularized extra-embryonic fetal membrane by fusion of the chorion and allantois |
| HP:0003363 | Abdominal situs inversus | MP:0010854 | lung situs inversus | anomaly in the asymmetry of the lung such that lung lobes on both the left and right side have the morphology normally seen on the opposite side of the body |
| HP:0100273 | Neoplasm of the colon | MP:0008261 | arrest of male meiosis | cessation of the progression of the process of nuclear division that results in sperm with one half the normal chromosome number of the original cell |
| HP:0000958 | Dry skin | MP:0010678 | abnormal skin adnexa morphology | any structural anomaly of the tissue or structures associated with or embedded in the skin such as hair and hair follicles, sweat glands, sebaceous glands and claws or nails |
| HP:0001824 | Weight loss | MP:0005114 | premature hair loss | release of fur at an earlier than expected time |
Mapped by homologous gene(Total Items:31) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0100273 | Neoplasm of the colon | MP:0014083 | blunted small intestinal villi | abnormal flattening of the surface of the tiny hair-like projections which protrude from the inside of the small intestine and contain blood vessels that capture digested nutrients that are absorbed through the intestinal wall; usually due to intestinal d |
| HP:0002315 | Headache | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0007754 | Macular dystrophy | MP:0013279 | increased fasted circulating glucose level | increase in the amount of glucose in the blood at some defined time point after eating compared to controls |
| HP:0002015 | Dysphagia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001482 | Subcutaneous nodule | MP:0013542 | abnormal submandibular gland branching morphogenesis | |
| HP:0010741 | Edema of the lower limbs | MP:0013258 | abnormal extracellular matrix morphology | any structural anomaly of the structure lying external to one or more cells, which provides structural support for cells or tissues; in mammals, the extracellular matrix is completely external to the cell |
| HP:0006756 | Diffuse leiomyomatosis | MP:0011509 | dilated glomerular capillary | stretched or widened aperture of the luminal space of the small branching blood vessel in the kidney glomerulus that receives blood from the kidney afferent arteriole |
| HP:0010784 | Uterine neoplasm | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| HP:0000407 | Sensorineural hearing impairment | 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:0002094 | Dyspnea | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0100820 | Glomerulopathy | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| HP:0000518 | Cataract | 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:0000093 | Proteinuria | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| HP:0003363 | Abdominal situs inversus | MP:0013906 | absent embryonic telencephalon | absence of the paired diverticula of the embryonic telencephalon, from which the forebrain develops |
| HP:0001131 | Corneal dystrophy | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000360 | Tinnitus | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0001873 | Thrombocytopenia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0012378 | Fatigue | MP:0013659 | abnormal erythroid lineage cell morphology | any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes |
| HP:0000790 | Hematuria | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001824 | Weight loss | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001882 | Leukopenia | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0000083 | Renal insufficiency | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000980 | Pallor | MP:0020186 | altered susceptibility to bacterial infection | a change in the likelihood that an organism will develop ill effects from a bacterial infection or from components of or toxins produced by bacteria |
| HP:0000488 | Retinopathy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000100 | Nephrotic syndrome | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| HP:0000545 | Myopia | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000613 | Photophobia | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0002013 | Vomiting | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000958 | Dry skin | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0100539 | Periorbital edema | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000822 | Hypertension | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| Disease ID | 321 |
|---|---|
| Disease | alport syndrome |
| Case | (Waiting for update.) |