GENE - TERM ANNOTATION REPORT

RGD ID: 3889
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Tp53
Name: tumor protein p53
Acc ID: DOID:1926
Term: Gaucher's disease
Definition: 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.
Definition Source(s): MESH:D005776, http://en.wikipedia.org/wiki/Gaucher%27s_disease, https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/12/viewAbstract
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 ISORGD:705028554872ClinVarClinVar Annotator: match by term: Gaucher disease, type I

PMID:12826609, PMID:20978130, PMID:24549055, PMID:25741868, PMID:28492532, PMID:28861920
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.