ORPHA:289846

Glutathione synthetase deficiency with 5-oxoprolinuria

This disease is described under Glutathione synthetase deficiency

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Glutathione synthetase deficiency with 5-oxoprolinuria
fr	Déficit en glutathion synthétase avec 5-oxoprolinurie
de	Glutathionsynthetase-Mangel mit 5-Oxoprolinurie
es	Deficiencia de glutatión sintetasa con 5-oxoprolinuria
it	Deficit di glutatione sintetasi con 5-oxoprolinuria
nl	Deficiëntie van glutathionsynthetase met 5-oxoprolinurie
pt	Deficiência de glutationa sintetase com 5-oxoprolinuria
pl	Niedobór syntetazy glutationu z 5-oksoprolinurią
cs	Deficit glutathionsyntetázy s 5-oxoprolinurií
uk	Дефіцит глутатіонсинтетази з 5-оксопролінурією
zh	谷胱甘肽合成酶缺乏症伴5-氧脯氨酸尿症
tr	5-oksoprolinüri ile seyreden glutatyon sentetaz eksikliği

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	266130	E		validated
ICD-10	D55.1	NTBT	attributed	validated
ICD-11	3A10.0Y	NTBT	index	validated
MONDO	0009947	E		validated
UMLS	C5848078	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

ORPHA:32Glutathione synthetase deficiency
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases; rare hematological diseases

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
GSS	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:4624	ENSG00000100983	601002	20q11.22	glutathione synthetase

0 records

No prevalence record in this release.

Orphanet has no HPO annotation for this code in this release.