Number of the records: 1
Gaucherova choroba
Record number d005776 Date 06.06.2025 Type M - MESH Topical term Gaucherova choroba Other term English (Pseudonym) Cerebroside Lipidosis Syndrome
English (Pseudonym) Gaucher Disease Type 1
English (Pseudonym) Gaucher Disease Type 2
English (Pseudonym) Glucocerebrosidase Deficiency Disease
English (Pseudonym) Glucosylceramide Beta-Glucosidase Deficiency Disease
English (Pseudonym) Neuronopathic Gaucher Disease
Slovak (Pseudonym) syndróm cerebrozidovej lipidózy
Slovak (Pseudonym) choroba z deficitu glukocerebrozidázy
Slovak (Pseudonym) choroba z deficitu glukozylceramidbetaglukozidázy
Slovak (Pseudonym) Gaucherova choroba neuronopatická
Slovak (Pseudonym) Gaucherova choroba, typ 1
Slovak (Pseudonym) Gaucherova choroba, typ 2
Slovak (Pseudonym) Gaucherova choroba, typ 3
Slovak (Pseudonym) Gaucherova splenomegália
Slovak (Pseudonym) deficit glukocerebrozidázy
Slovak (Pseudonym) glukocerebrozidóza
Slovak (Pseudonym) deficit glukozylceramidázy
Slovak (Pseudonym) deficit glukozylceramid beta-glukozidázy
Slovak (Pseudonym) lipidóza glukozylceramidová
Slovak (Pseudonym) histiocytóza kerazínová
Slovak (Pseudonym) lipoidóza kerazínová
Slovak (Pseudonym) tezaurizmóza kerazínová
Slovak (Pseudonym) Gaucherova choroba, neuropatická forma
Slovak (Pseudonym) Gaucherova choroba, subakútna neuropatická forma
Slovak (Pseudonym) Gaucherova choroba, non-neuropatická forma
See also (Skutočné meno) glukozylceramidáza
(Later heading) glukozylceramidáza
UDC C10.228.140.163.100.435.825.400C16.320.565.189.435.825.400C16.320.565.398.641.803.441C16.320.565.595.554.825.400C18.452.132.100.435.825.400C18.452.584.563.641.803.441C18.452.648.189.435.825.400C18.452.648.398.641.803.441C18.452.648.595.554.825.400 Note An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the MONONUCLEAR PHAGOCYTE SYSTEM. The characteristic Gaucher cells, glycosphingolipid-filled HISTIOCYTES, displace normal cells in BONE MARROW and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement. 
subject heading
Number of the records: 1