HYPERGLYCINURIA

General Information (adopted from Orphanet):

Synonyms, Signs: GLYCINURIA WITH OR WITHOUT OXALATE NEPHROLITHIASIS
IMINOGLYCINURIA TYPE II
GLYCINURIA WITH OR WITHOUT OXALATE UROLITHIASIS
Number of Symptoms 5
OrphanetNr:
OMIM Id: 138500
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000787) Nephrolithiasis 78 / 7739
2
(HPO:0008672) Calcium oxalate nephrolithiasis 10 / 7739
3
(HPO:0003108) Hyperglycinuria 11 / 7739
4
(OMIM) Renal oxalate stones 1 / 7739
5
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM De Vries et al. (1957) found hyperglycinuria in a grandmother, her daughter, and 2 granddaughters in an Ashkenazi Jewish kindred. The grandmother had had renal colic, and renal oxalate stones were demonstrated in the 2 granddaughters. This family ...
Molecular genetics OMIM Broer et al. (2008) studied 3 French Canadian and 4 Australian families, each with an index case previously identified from newborn urinary screening programs for iminoglycinuria (IG; 242600). IG was reconfirmed in all but 2 of the probands: ...