eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| diffuse mesangial sclerosis | ||||
| Disease ID | 1749 |
|---|---|
| Disease | diffuse mesangial sclerosis |
| Definition | Diffuse sclerosis of the mesangium, as manifestated by diffuse mesangial matrix expansion. [HPO:probinson] |
| Synonym | congenital nephrotic syndrome - diffuse mesangial sclerosis diffuse isolated mesangial sclerosis diffuse mesangial sclerosis (disorder) diffuse mesangial sclerosis glomerulopathy isolated diffuse mesangial sclerosis mesangial sclerosis mesangial sclerosis, diffuse mesangial sclerosis, isolated diffuse nephrotic syndrome, early onset with diffuse mesangial sclerosis nephrotic syndrome, early-onset, with diffuse mesangial sclerosis |
| UMLS | C0268747 |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1749 |
|---|---|
| Disease | diffuse mesangial sclerosis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:5) HP:0000097 | focal glomerulosclerosis HP:0001967 | Diffuse mesangial sclerosis HP:0002667 | Wilms tumor HP:0000100 | Nephrosis HP:0000083 | Renal insufficiency |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 1749 |
|---|---|
| Disease | diffuse mesangial sclerosis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:4) |
| 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:5) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121907900 | NA | 7490 | WT1 | umls:C0268747 | CLINVAR | NA | 0.122638474 | NA | WT1 | 11 | 32392020 | G | A |
| rs28941777 | NA | 7490 | WT1 | umls:C0268747 | CLINVAR | NA | 0.122638474 | NA | WT1 | 11 | 32392053 | A | G |
| rs28941778 | NA | 7490 | WT1 | umls:C0268747 | CLINVAR | NA | 0.122638474 | NA | WT1 | 11 | 32392014 | C | T |
| rs28942089 | NA | 7490 | WT1 | umls:C0268747 | CLINVAR | NA | 0.122638474 | NA | WT1 | 11 | 32392672 | G | A |
| rs587776577 | NA | 7490 | WT1 | umls:C0268747 | CLINVAR | NA | 0.122638474 | NA | WT1 | 11 | 32391968 | 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:3) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000097 | Focal segmental glomerulosclerosis | MP:0005264 | glomerulosclerosis | hyaline deposits or scarring within the renal glomeruli, often occurring with renal arteriosclerosis or diabetes |
| 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:0001967 | Diffuse mesangial sclerosis | MP:0011428 | mesangial cell hypoplasia | decreased number of the phagocytic cells in the capillary tuft of the renal glomerulus, interposed between endothelial cells and the basement membrane in the central or stalk region of the tuft |
Mapped by homologous gene(Total Items:5) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| 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:0001967 | Diffuse mesangial sclerosis | MP:0013310 | abnormal adrenal gland development | aberrant formation or incomplete differentiation of the pair of endocrine glands located above the kidney that are responsible for steroid hormone secretion from the cortex and neurotransmitter (such as epinephrine and norepinephrine) secretion from the m |
| 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:0002667 | Nephroblastoma (Wilms tumor) | MP:0013886 | increased CD4-negative, CD25-positive NK T cell number | increase in the number of CD4-negative NK T cells expressing the activation marker CD25 |
| HP:0000097 | Focal segmental glomerulosclerosis | MP:0013310 | abnormal adrenal gland development | aberrant formation or incomplete differentiation of the pair of endocrine glands located above the kidney that are responsible for steroid hormone secretion from the cortex and neurotransmitter (such as epinephrine and norepinephrine) secretion from the m |
| Disease ID | 1749 |
|---|---|
| Disease | diffuse mesangial sclerosis |
| Case | (Waiting for update.) |