ORPHA:289849

Glutathione synthetase deficiency without 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 without 5-oxoprolinuria
fr	Déficit en glutathion synthétase sans 5-oxoprolinurie
de	Glutathionsynthetase-Mangel ohne 5-Oxoprolinurie
es	Deficiencia de glutatión sintetasa sin 5-oxoprolinuria
it	Deficit di glutatione sintetasi senza 5-oxoprolinuria
nl	Deficiëntie van glutathionsynthetase zonder 5-oxoprolinurie
pt	Deficiência de glutationa sintetase sem 5-oxoprolinuria
pl	Niedobór syntetazy glutationu bez 5-oksoprolinurii
cs	Deficit glutathionsyntetázy bez 5-oxoprolinurie
uk	Дефіцит глутатіонсинтетази без 5-оксопролінурії
zh	不伴5-氧脯氨酸尿症的谷胱甘肽合成酶缺乏症
tr	5-oksoprolinüri olmayan glutatyon sentetaz eksikliği

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	231900	E		validated
ICD-10	D55.1	NTBT	attributed	validated
ICD-11	3A10.0Y	NTBT	index	validated
MONDO	0009284	E		validated
UMLS	C1856399	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) 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.