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cystinuria
Summary
- Definition
- An amino acid metabolic disorder that involves the formation of cystine stones in the kidneys, ureter, and bladder.
- Super Class
- amino acid metabolic disorder bladder disease kidney disease ureteral disease
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 852602 | MAL32 | alpha-glucosidase MAL32 | |
| 853204 | IMA1 | oligo-1,6-glucosidase IMA1 | |
| 853209 | MAL12 | alpha-glucosidase MAL12 | |
| 853214 | IMA5 | oligo-1,6-glucosidase IMA5 | |
| 853235 | IMA4 | oligo-1,6-glucosidase IMA4 | |
| 854008 | IMA2 | oligo-1,6-glucosidase IMA2 | |
| 854635 | IMA3 | oligo-1,6-glucosidase IMA3 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O14561 | Acyl carrier protein, mitochondrial | |
| O15488 | Glycogenin-2 | |
| O43451 | Maltase-glucoamylase | |
| O60760 | Hematopoietic prostaglandin D synthase | |
| O75352 | Mannose-P-dolichol utilization defect 1 protein | |
| P00338 | L-lactate dehydrogenase A chain | |
| P00558 | Phosphoglycerate kinase 1 | |
| P04075 | Fructose-bisphosphate aldolase A | |
| P05362 | Intercellular adhesion molecule 1 | |
| P06280 | Alpha-galactosidase A |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000083 | Renal insufficiency |
| HP:0003297 | Hyperlysinuria |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0003131 | Cystinuria |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0003268 | Argininuria |
| HP:0000010 | Recurrent urinary tract infections |
| HP:0003532 | Ornithinuria |
| HP:0000787 | Nephrolithiasis |
