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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 |
|---|---|---|---|
| 2538 | G6PC1 | glucose-6-phosphatase catalytic subunit 1 | |
| 2539 | G6PD | glucose-6-phosphate dehydrogenase | |
| 2542 | SLC37A4 | solute carrier family 37 member 4 | |
| 2548 | GAA | alpha glucosidase | |
| 2582 | GALE | UDP-galactose-4-epimerase | |
| 2584 | GALK1 | galactokinase 1 | |
| 2592 | GALT | galactose-1-phosphate uridylyltransferase | |
| 2632 | GBE1 | 1,4-alpha-glucan branching enzyme 1 | |
| 2717 | GLA | galactosidase alpha | |
| 2821 | GPI | glucose-6-phosphate isomerase |
| 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 |
|---|---|---|
| Q9HAW8 | UDP-glucuronosyltransferase 1A10 | |
| Q9HAW9 | UDP-glucuronosyltransferase 1A8 | |
| Q9NQR9 | Glucose-6-phosphatase 2 |
- 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 |
