eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| dense deposit disease | ||||
| Disease ID | 667 |
|---|---|
| Disease | dense deposit disease |
| Definition | A type of membranoproliferative glomerulonephritis characterized by electron dense deposits at the glomerular basement membrane. [Eurenomics:ewuehl, pmid:20301598] |
| Synonym | ddd mpgnii dense deposit disease (disorder) mcgn type ii - mesangiocapillary glomerulonephritis type ii mcgndd - mesangiocapillary glomerulonephritis, dense deposit membranoproliferative glomerulonephritis type 2 membranoproliferative glomerulonephritis type ii membranoproliferative glomerulonephritis, type ii mesangiocapillary glomerulonephritis type 2 mesangiocapillary glomerulonephritis type ii mesangiocapillary glomerulonephritis, type ii mesangiocapillary glomerulonephritis, type ii (disorder) mpgnii type ii mpgn |
| Orphanet | |
| UMLS | C0268743 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:5) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:2) |
| Disease ID | 667 |
|---|---|
| Disease | dense deposit disease |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:4) HP:0000100 | Nephrosis | 1 HP:0001919 | Acute renal failure | 1 HP:0100820 | Glomerulopathy | 1 HP:0000083 | Renal insufficiency | 1 |
| Disease ID | 667 |
|---|---|
| Disease | dense deposit disease |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:3) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:2) |
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 |
| rs1061170 | 22456601 | 3075 | CFH | umls:C0268743 | BeFree | The complement factor H Y402H variant was significantly increased in dense deposit disease. | 0.126243163 | 2012 | CFH | 1 | 196690107 | C | T |
| rs386614680 | 21270465 | 3075 | CFH | umls:C0268743 | BeFree | Here, we investigate the consequences of aHUS-linked mutations (R53H and R78G) within the FH N-terminal complement control protein module that also carries the I62V variation linked to dense-deposit disease and age-related macular degeneration. | 0.126243163 | 2011 | NA | NA | NA | NA | NA |
| rs386614680 | 18252712 | 3075 | CFH | umls:C0268743 | BeFree | Substitution of buried Val-62 with Ile (a factor H single nucleotide polymorphism potentially protective for age-related macular degeneration and dense deposit disease) causes rearrangements within the module 1 core and increases thermal stability but does not disturb the interface with module 2. | 0.126243163 | 2008 | NA | NA | NA | NA | NA |
| rs800292 | 21270465 | 3075 | CFH | umls:C0268743 | BeFree | Here, we investigate the consequences of aHUS-linked mutations (R53H and R78G) within the FH N-terminal complement control protein module that also carries the I62V variation linked to dense-deposit disease and age-related macular degeneration. | 0.126243163 | 2011 | CFH | 1 | 196673103 | 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) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 667 |
|---|---|
| Disease | dense deposit disease |
| Case | (Waiting for update.) |