Gaucher's disease type III

Summary
Synonym
  • GD III
  • Gaucher Disease, Chronic Neuronopathic Type
  • Gaucher Disease, Juvenile And Adult, Cerebral
  • Gaucher Disease, Subacute Neuronopathic Type
Definition
A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22.
Super Class
Gaucher's disease autosomal recessive disease
External Links
Disease Ontology
DOID:0110959
Mondo Disease Ontology
ORDO
OMIM
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
1118 CHIT1 chitinase 1
1636 ACE angiotensin I converting enzyme
2629 GBA1 glucosylceramidase beta 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
14466 Gba1 glucosylceramidase beta 1
Displaying all 2 entries
Gene ID Gene Symbol Description Source
177314 gba-4 Putative glucosylceramidase 4
178535 gba-3 Putative glucosylceramidase 3
The Human Phenotype Ontology
Displaying entries 1 - 10 of 47 in total
HPO ID HPO Term
HP:0001873 Thrombocytopenia
HP:0011001 Increased bone mineral density
HP:0001288 Gait disturbance
HP:0002659 Increased susceptibility to fractures
HP:0000726 Dementia
HP:0002123 Generalized myoclonic seizure
HP:0004382 Mitral valve calcification
HP:0001654 Abnormal heart valve morphology
HP:0000486 Strabismus
HP:0001903 Anemia
Displaying 1 entry
Gene ID Gene Symbol Description
2629 GBA1 glucosylceramidase beta 1

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Last updated: August 19, 2024