Gaucher's disease type II

Summary
Synonym
  • GD II
  • GD2
  • Gaucher Disease, Acute Neuronopathic Type
  • Infantile Cerebral Gaucher Disease
Definition
A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22.
Super Class
Gaucher's disease
External Links
Disease Ontology
DOID:0110958
Mondo Disease Ontology
ORDO
OMIM
MGI genotype (from TogoID)
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 4 entries
Gene ID Gene Symbol Description Source
173574 gba-1 Putative glucosylceramidase 1
177314 gba-4 Putative glucosylceramidase 4
178535 gba-3 Putative glucosylceramidase 3
183155 gba-2 Putative glucosylceramidase 2
The Human Phenotype Ontology
Displaying entries 1 - 10 of 40 in total
HPO ID HPO Term
HP:0001744 Splenomegaly
HP:0001298 Encephalopathy
HP:0002205 Recurrent respiratory infections
HP:0000602 Ophthalmoplegia
HP:0002098 Respiratory distress
HP:0002793 Abnormal pattern of respiration
HP:0001371 Flexion contracture
HP:0000486 Strabismus
HP:0002015 Dysphagia
HP:0002240 Hepatomegaly
Displaying 1 entry
Gene ID Gene Symbol Description
2629 GBA1 glucosylceramidase beta 1

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Acknowledgements

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Last updated: August 19, 2024