eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| medullary sponge kidney | ||||
| Disease ID | 670 |
|---|---|
| Disease | medullary sponge kidney |
| Definition | A developmental disorder of the kidney characterized by cystic dilatation of the medullary collecting ducts, resulting in a spongy gross appearance of the kidney. It may be asymptomatic or complicated by hematuria, infections, or renal stones. |
| Synonym | cacchi ricci disease cacchi ricci syndrome cacchi-ricci syndrome canalicular ectasia, precalyceal canalicular ectasias, precalyceal disease, cacchi ricci ectasia, precalyceal canalicular ectasias, precalyceal canalicular kidney medullary sponge kidney sponge kidney sponge medullary kidney, medullary sponge kidney, sponge kidneys medullary sponge kidneys, sponge medullary sponge kidney (disorder) medullary sponge kidney [disease/finding] medullary sponge kidneys precalyceal canalicular ectasia precalyceal canalicular ectasias ricci disease, cacchi sponge kidney sponge kidney, medullary sponge kidneys sponge kidneys, medullary syndrome, cacchi-ricci |
| Orphanet | |
| DOID | |
| UMLS | C0022681 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:3) |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 670 |
|---|---|
| Disease | medullary sponge kidney |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:5) HP:0002150 | Hypercalciuria HP:0000790 | Hematuria HP:0008341 | Distal renal tubular acidosis HP:0001528 | Hemihypertrophy HP:0000787 | Nephrolithiasis |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:9) HP:0000787 | Renal calculi | 4 HP:0002900 | Hypokalemia | 1 HP:0001947 | Renal tubular acidosis | 1 HP:0000107 | Renal cyst | 1 HP:0001941 | acidemia | 1 HP:0000121 | Nephrocalcinosis | 1 HP:0000028 | Cryptorchidism | 1 HP:0012408 | Medullary nephrocalcinosis | 1 HP:0008341 | Renal tubular acidosis, type I | 1 |
| Disease ID | 670 |
|---|---|
| Disease | medullary sponge kidney |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:8) |
| 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: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:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0008341 | Distal renal tubular acidosis | MP:0000525 | renal tubular acidosis | a clinical syndrome characterized by the inability to acidify urine |
Mapped by homologous gene(Total Items:5) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0008341 | Distal renal tubular acidosis | MP:0012551 | metabolic acidosis | decreased pH and bicarbonate concentration in tissues and/or body fluids caused when the body produces too much acid or when the kidneys are not removing enough acid from the body, as in diarrhea or in kidney disease |
| HP:0002150 | Hypercalciuria | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001528 | Hemihypertrophy | 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:0000790 | Hematuria | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000787 | Nephrolithiasis | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| Disease ID | 670 |
|---|---|
| Disease | medullary sponge kidney |
| Case | (Waiting for update.) |