01
BCS1L
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 8
Basic Information
Grouped by core information, identifiers, and descriptions.
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Core Information
- Disease Name
- Renal Aminoacidurias
- Standard Disease Name
- renal aminoacidurias
- MeSH Tree
- No data
- ICD-10
- No data
Identifiers
- DO ID
- No data
- MeSH ID
- D000608
- OMIM ID
- No data
- UMLS ID
- C0002534
- HPO ID
- No data
Description and Extensions
- Description
- MSH2017_2016_08_12:A group of inherited kidney disorders characterized by the abnormally elevated levels of AMINO ACIDS in URINE. Genetic mutations of transport proteins result in the defective reabsorption of free amino acids at the PROXIMAL RENAL TUBULES. Renal aminoaciduria are classified by the specific amino acid or acids involved.|HPO2016_07_04:An increased concentration of an amino acid in the urine, due to a decreased kidney functionality . [HPO:gcarletti, HPO:probinson]|CSP2006:inborn genetic mutations causing impairment of renal tubular transport of amino acids.