ORPHA:308520

Glycogen storage disease due to glycogen synthase deficiency

Synonyms: GSD due to glycogen synthase deficiency · Glycogenosis due to glycogen synthase deficiency

Type: Clinical group
Group: Group of disorders
Status: active

This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Glycogen storage disease due to glycogen synthase deficiency	GSD due to glycogen synthase deficiency · Glycogenosis due to glycogen synthase deficiency
fr	Glycogènose par déficit en glycogène synthase	GSD par déficit en glycogène synthase
de	Glykogen-Speicherkrankheit durch Glykogen-Synthase-Mangel	GSD durch Glykogen-Synthase-Mangel · Glykogenose Glykogen-Synthase-Mangel
es	Enfermedad por almacenamiento de glucógeno por deficiencia de glucógeno sintasa	GSD por deficiencia de glucógeno sintasa · Glucogenosis por deficiencia de glucógeno sintasa
it	Malattia da deposito di glicogeno dovuta a deficit di glicogeno sintasi	GSD da deficit di glicogeno sintasi · Glcogenosi da deficit di glicogeno sintasi
nl	Glycogeenstapelingsziekte door deficiëntie van glycogeensynthase	GSD door deficiëntie van glycogeensynthase · Glycogenose door deficiëntie van glycogeensynthase
pt	Doença de armazenamento de glicogénio por deficiência de glicogénio sintetase	Glicogenose por deficiência de glicogénio sintetase
pl	Choroba spichrzania glikogenu z powodu niedoboru syntazy glikogenu	Glikogenoza z powodu niedoboru syntazy glikogenu · GSD z powodu niedoboru syntazy glikogenu
cs	Glykogenóza způsobená deficitem glykogensyntázy	GSD způsobená deficitem glykogensyntázy
uk	Хвороба накопичення глікогену, зумовлена дефіцитом глікогенсинтетази	Глікогеноз внаслідок дефіциту глікогенсинтетази · GSD через дефіцит глікогенсинтетази
zh	糖原合成酶缺乏致糖原贮积病	糖原合成酶缺乏所致糖原贮积病
tr	Glikojen sentaz eksikliğine bağlı glikojen depo hastalığı	Glikojen sentaz eksikliğine bağlı GSD · Glikojen sentaz eksikliğine bağlı glikojenoz

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
MONDO	17693	E		validated
UMLS	C5679973	E		validated

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

Classification

Preferential parent (Orphanet linearisation):

ORPHA:68367Rare inborn error of metabolism

Parents in the classifications (1):

ORPHA:79201Glycogen storage disease
rare inborn errors of metabolism; rare genetic diseases

Children (2):

Genes

0 direct

Orphanet records no gene directly on this code.

Prevalence and incidence

0 records

No prevalence record in this release.

HPO phenotypes

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

Sources for this card

Orphanet page: orpha.net/en/disease/detail/308520
This record as JSON: /data/d/308520.json