eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| fibronectin glomerulopathy | ||||
| Disease ID | 1490 |
|---|---|
| Disease | fibronectin glomerulopathy |
| Synonym | glomerular nephritis, familial, with fibronectin deposits glomerulopathy with fibronectin deposits |
| Orphanet | |
| OMIM | |
| UMLS | C3888104 |
| 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 | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) FN1 | 2q35 |
| Disease ID | 1490 |
|---|---|
| Disease | fibronectin glomerulopathy |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:10) HP:0100820 | Glomerulopathy HP:0010741 | Edema of the lower limbs HP:0001966 | Mesangial abnormality HP:0000100 | Nephrotic syndrome HP:0000822 | Hypertension HP:0003073 | Hypoalbuminemia HP:0001342 | Cerebral hemorrhage HP:0000093 | Proteinuria HP:0002907 | Microscopic hematuria HP:0000083 | Renal insufficiency |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 1490 |
|---|---|
| Disease | fibronectin glomerulopathy |
| Manually Symptom | (Waiting for update.) |
| 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:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:4) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002907 | Microscopic hematuria | MP:0005161 | hematuria | presence of blood in the urine |
| 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:0001342 | Cerebral hemorrhage | MP:0001914 | hemorrhage | loss of blood from the vascular compartment to the exterior or into nonvascular body space as a result of rupture or severance of the blood vessels |
| 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 |
Mapped by homologous gene(Total Items:10) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002907 | Microscopic hematuria | 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: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:0100820 | Glomerulopathy | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| 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: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:0003073 | Hypoalbuminemia | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| 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: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 |
| HP:0001342 | Cerebral hemorrhage | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0001966 | Mesangial abnormality | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| Disease ID | 1490 |
|---|---|
| Disease | fibronectin glomerulopathy |
| Case | (Waiting for update.) |