ZFIN Human Disease: Gaucher's disease

OBO ID: DOID:1926

Term Name:	Gaucher's disease		Search Ontology:
Synonyms:	acid beta-glucosidase deficiency Gaucher disease glocucerebrosidase deficiency glucosylceramide beta-glucosidase deficiency kerasin thesaurismosis lipoid histiocytosis
Definition:	A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver. (2)
References:	GARD:8233 ICD10CM:E75.22 MESH:D005776 NCI:C61268 ORDO:355 SNOMEDCT_US_2023_03_01:190794006 UMLS_CUI:C0017205
Ontology:	Human Disease ( DOID:1926 )

Relationships

is a type of:	sphingolipidosis sphingolipidosis Show first 5 Terms
has subtype:	atypical Gaucher's disease due to saposin c deficiency Gaucher's disease perinatal lethal Gaucher's disease type I Gaucher's disease type II Gaucher's disease type III atypical Gaucher's disease due to saposin c deficiency Gaucher's disease perinatal lethal Gaucher's disease type I Gaucher's disease type II Gaucher's disease type III Show first 5 Terms

OTHER Gaucher's disease PAGES

Alliance (1)

GENES INVOLVED No data available

ZEBRAFISH MODELS

Fish	Conditions	Citations
AB/TL	chemical treatment by environment: EC 3.2.1.45 (glucosylceramidase) inhibitor	Su et al., 2021
WT	chemical treatment by diet: EC 3.2.1.45 (glucosylceramidase) inhibitor	Artola et al., 2019
	chemical treatment by environment: EC 3.2.1.45 (glucosylceramidase) inhibitor	Artola et al., 2019
gba1^{sa1621/sa1621} (AB)	standard conditions	Costa et al., 2020
gba1^sh391/sh391	standard conditions	Watson et al., 2019
gba1^sh391/sh391 (TL)	standard conditions	Keatinge et al., 2015
th^{ion32Tg/ion32Tg}; c264Tg/c264Tg	chemical treatment by environment: conduritol B epoxide	Kim et al., 2021

PHENOTYPE No data available

CITATIONS (8)