loading...| Preferred Name |
Gaucher Disease |
|
| Synonyms |
Glucosylceramide Beta-Glucosidase Deficiency |
|
| Definitions |
This type usually shows severe neurological effect in the first year of life. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D005776 |
|
| altLabel |
Glucosylceramide Beta-Glucosidase Deficiency Gaucher Syndrome Type 1 Gaucher Disease Gaucher Disease Type 3 Gaucher's Disease Lipoid Histiocytoses (Kerasin Type) Lipidosis, Glucosylceramide Subacute Neuronopathic Gaucher Disease Glucocerebrosidase Deficiency Diseases Diseases, Glucocerebrosidase Deficiency Histiocytoses, Lipoid (Kerasin Type) Lipidosis Syndromes, Cerebroside Gaucher Disease, Acute Neuronopathic Type Deficiency Diseases, Glucocerebrosidase Glucocerebrosidosis Kerasin Lipoidosis Kerasin Lipoidoses Kerasin thesaurismosis Histiocytosis, Kerasin Glucocerebrosidoses Kerasin thesaurismoses Chronic Gaucher Disease Gaucher Disease, Type 2 Glucocerebrosidase Deficiency Glucosyl Cerebroside Lipidosis Gaucher Disease, Type 3 Lipidosis, Glucosyl Cerebroside Lipoid Histiocytosis (Kerasin Type) Disease, Neuronopathic Gaucher Lipoidoses, Kerasin Gaucher Disease Type 2 Infantile Gaucher Disease Gaucher Disease, Noncerebral Juvenile Gaucher Disease, Type I Lipidosis Syndrome, Cerebroside Disease, Glucocerebrosidase Deficiency Syndrome, Gaucher Glucosylceramide Lipidoses Gaucher Disease, Juvenile and Adult, Cerebral Gaucher Disease, Neuronopathic Glucosylceramide Lipidosis Gaucher Disease, Type III Kerasin Histiocytoses Deficiency, Glucocerebrosidase Disease, Gaucher Glucosylceramide Beta-Glucosidase Deficiency Disease Histiocytoses, Kerasin Gaucher Splenomegaly Disease, Non-Neuronopathic Gaucher Acute Neuronopathic Gaucher Disease Cerebroside Lipidosis, Glucosyl Gaucher Disease, Infantile Type 2 Gaucher Disease Neuronopathic Gaucher Disease Gaucher Disease, Type II Gaucher Disease Type 1 Disease, Gauchers GBA Deficiency Deficiency, GBA Disease, Infantile Gaucher thesaurismosis, Kerasin Cerebroside Lipidosis Syndromes Glucocerebrosidase Deficiencies Gaucher Disease, Chronic Deficiencies, Glucocerebrosidase Syndrome, Cerebroside Lipidosis Cerebroside Lipidosis Syndrome Juvenile Gaucher Disease Gaucher Disease, Juvenile thesaurismoses, Kerasin Gauchers Disease Glucosylceramidase Deficiency Gaucher Disease, Subacute Neuronopathic Type Disease, Chronic Gaucher Gaucher Disease, Non Neuronopathic Form GBA Deficiencies Splenomegaly, Gaucher Deficiency Disease, Glucocerebrosidase Gaucher Disease, Non-Neuronopathic Form Lipoidosis, Kerasin Gaucher Disease, Non-Neuronopathic Acid beta-Glucosidase Deficiency Gaucher Disease, Chronic Neuronopathic Type Gaucher Disease, Subacute Neuronopathic Form Disease, Juvenile Gaucher Disease, Gaucher's Gaucher Disease, Infantile Cerebral Type 3 Gaucher Disease Glucocerebrosidase Deficiency Disease Lipidoses, Glucosylceramide Lipidoses, Glucosyl Cerebroside Deficiencies, GBA Diseases, Gauchers Glucosyl Cerebroside Lipidoses Histiocytosis, Lipoid (Kerasin Type) Gaucher Disease, Acute Neuronopathic Syndromes, Cerebroside Lipidosis Gauchers Diseases Gaucher Disease, Type 1 Cerebroside Lipidoses, Glucosyl Acid beta-Glucosidase Deficiency Disease Non Neuronopathic Gaucher Disease Kerasin Histiocytosis Non-Neuronopathic Gaucher Disease |
|
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
|
| cui |
C0017205 C0268251 C0268250 C1961835 |
|
| DC |
1 |
|
| definition |
This type usually shows severe neurological effect in the first year of life. 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. This type shows moderate to severe neurological effect in childhood. This type afflicts both children and adults who show no neurological effect. It is more prevalent in people of Ashkenazi Jewish ancestry. |
|
| DX |
20000101 |
|
| FX |
D005962 |
|
| HN |
2000(1966) |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Inverse of RO | ||
| Machine permutation |
2000; see GAUCHER'S DISEASE 1966-1999; for GAUCHER DISEASE see GAUCHER'S DISEASE 1966-1999 |
|
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C566435 http://purl.bioontology.org/ontology/MESH/C537675 http://purl.bioontology.org/ontology/MESH/C564306 http://purl.bioontology.org/ontology/MESH/C565555 http://purl.bioontology.org/ontology/MESH/C565556 http://purl.bioontology.org/ontology/MESH/C565554 |
|
| MDA |
19990101 |
|
| MMR |
20210701 |
|
| MN |
C16.320.565.189.435.825.400 C16.320.565.595.554.825.400 C18.452.648.398.641.803.441 C18.452.648.595.554.825.400 C18.452.584.563.641.803.441 C18.452.648.189.435.825.400 C10.228.140.163.100.435.825.400 C18.452.132.100.435.825.400 C16.320.565.398.641.803.441 |
|
| notation |
D005776 |
|
| prefLabel |
Gaucher Disease |
|
| TERMUI |
T368309 T824502 T368310 T368332 T368333 T841479 T368330 T841482 T368329 T770091 T841478 T841483 T368322 T368318 T841487 T781825 T841477 T368334 T368335 T017405 T368320 T782941 T782942 T750612 T368323 T841488 T368316 T841480 T750614 T782944 T781823 T368331 T824501 T812687 T750613 T647675 T841481 T368312 T017404 T841486 T781824 T368328 T368336 T368308 T368337 T368338 T824500 T841485 T782943 T841484 T368324 T368311 |
|
| TH |
OMIM (2013) NLM (2000) NLM (1966) NLM (2012) UNK (19XX) NLM (2010) GHR (2014) NLM (2007) NLM (2014) NLM (2011) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |