Hyperglycinuria

Preferred Label : Hyperglycinuria;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Iminoglycinuria type II; Glycinuria with or without oxalate nephrolithiasis; Glycinuria with or without oxalate urolithiasis;

Description : The imino acids, proline and hydroxyproline, share a renal tubular reabsorptive mechanism with glycine. Iminoglycinuria (IG; 242600), a benign inborn error of amino acid transport, is also a normal finding in neonates and infants under 6 months of age (Chesney, 2001). Early studies of families with iminoglycinuria suggested genetic complexity, with homozygotes developing IG and heterozygotes manifesting only hyperglycinuria (HG) (summary by Broer et al., 2008). A phenotype of combined glucosuria and glycinuria has been described (see 138070).;

Inheritance : Autosomal dominant;

Prefixed ID : #138500;

Details

Origin ID

138500;

UMLS CUI

C0543541;

Currated CISMeF NLP mapping
- Hyperglycinuria [PASCAL descriptor]
- Hyperglycinuria [HPO term]
- glycinuria with or without oxalate urolithiasis [MeSH concept]
- glycinuria with or without oxalate urolithiasis [MeSH Supplementary Concept]
- hyperglycinuria [CISMeF Querying Strategy]
Genes related to phenotype
- Solute carrier family 36 (proton/amino acid symporter), member 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Calcium oxalate nephrolithiasis [HPO term]
- Hyperglycinuria [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hyperglycinuria [HPO term]
- Hyperglycinuria [PASCAL descriptor]
- glycinuria with or without oxalate urolithiasis [MeSH Supplementary Concept]
- glycinuria with or without oxalate urolithiasis [MeSH concept]
- hyperglycinuria [CISMeF Querying Strategy]

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