Iminoglycinuria

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 7
OrphanetNr: 42062
OMIM Id: 242600
ICD-10: E72.0
UMLs: C0268654
MeSH: C536285
MedDRA:
Snomed: 84121007

Prevalence, inheritance and age of onset:

Prevalence: 6.68 of 100 000 [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Disorder of neutral amino acid transport
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0003080) Hydroxyprolinuria 7 / 7739
2
(HPO:0003108) Hyperglycinuria 11 / 7739
3
(HPO:0003137) Prolinuria 4 / 7739
4
(HPO:0000478) Abnormality of the eye 126 / 7739
5
(HPO:0001249) Intellectual disability 1089 / 7739
6
(OMIM) Gyrate atrophy of choroid and retina 1 / 7739
7
(HPO:0000007) Autosomal recessive inheritance 2538 / 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), a benign inborn error of amino acid transport, is also a normal finding in neonates and infants under 6 months of age ...
Clinical Description OMIM Rosenberg et al. (1968) found increased amounts of the 2 imino acids proline and hydroxyproline as well as glycine in the urine of a 6-year-old boy with congenital nerve deafness. Both parents had hyperglycinuria without imino aciduria. No ...
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). IG was reconfirmed in all but 2 of the probands: in ...