INDOLYLACROYL GLYCINURIA WITH MENTAL RETARDATION

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 5
OrphanetNr:
OMIM Id: 243050
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0003108) Hyperglycinuria 11 / 7739
2
 (HPO:0001249) Intellectual disability 1089 / 7739
3
 (OMIM) Indolylacroyl glycinuria 1 / 7739
4
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
5
 (OMIM) Transmucosal transport defect 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Mellman et al. (1963) found indolylacroyl glycinuria in 5 mentally retarded sibs. The mother also excreted the substance. Tryptophane loading orally or intravenously did not increase the excretion but oral neomycin caused disappearance of the substance from the ...