Iminoglycinuria

Preferred Label : Iminoglycinuria;

Type : Phenotype, molecular basis known;

Description : The imino acids, proline and hydroxyproline, share a renal tubular reabsorptive mechanism with glycine. Iminoglycinuria (IG), 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; 138500) (summary by Broer et al., 2008). Iminoglycinuria may be more frequent in Ashkenazim than in others (Tancredi et al., 1970). Iminoglycinuria also occurs as part of the generalized amino aciduria of the Fanconi renotubular syndrome (134600).;

Inheritance : Autosomal recessive; Digenic recessive;

Molecular basis : Caused by homozygous mutations in the SLC36A2 gene (608331.0001) combined with heterozygous mutation in the SLC6A20 gene (605616.0001) and SLC6A19 (608893.0005) genes;

Laboratory abnormalities : Hydroxyprolinuria; Iminoglycinuria; Prolinuria; Hyperglycinuria (also present in heterozygotes);

Prefixed ID : #242600;

Details

Origin ID

242600;

UMLS CUI

C0268654;

Currated CISMeF NLP mapping
- Iminoglycinuria [PASCAL descriptor]
- Iminoglycinuria [ICD-11 More detail]
- Iminoglycinuria [MeSH concept]
- Iminoglycinuria [ORDO Disease]
- Iminoglycinuria (disorder) [SNOMED CT concept]
- iminoglycinuria [MeSH Supplementary Concept]
- iminoglycinuria, nos [SNOMED Notion]
Genes related to phenotype
- Solute carrier family 36 (proton/amino acid symporter), member 2 [OMIM gene]
HPO term(s)
- Abnormality of the eye [HPO term]
- Autosomal recessive inheritance [HPO term]
- Hydroxyprolinuria [HPO term]
- Hyperglycinuria [HPO term]
- Intellectual disability [HPO term]
- Prolinuria [HPO term]
ORDO concept(s)
- Iminoglycinuria [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Iminoglycinuria [ORDO Disease]
- Iminoglycinuria [MeSH concept]
- Iminoglycinuria [ICD-11 More detail]
- Iminoglycinuria [PASCAL descriptor]
- Iminoglycinuria (disorder) [SNOMED CT concept]
- iminoglycinuria [MeSH Supplementary Concept]
- iminoglycinuria, nos [SNOMED Notion]

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