Gaucher's disease type IIIC

Summary
Synonym
  • GD3C
  • Gaucher disease type 3C
  • Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
  • Gaucher-like disease
  • cardiovascular Gaucher disease
Definition
A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22.
Super Class
Gaucher's disease type III
External Links
Disease Ontology
DOID:0112250
Mondo Disease Ontology
ORDO
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
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
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P04062 Lysosomal acid glucosylceramidase
The Human Phenotype Ontology
Displaying entries 41 - 50 of 69 in total
HPO ID HPO Term
HP:0002206 Pulmonary fibrosis
HP:0002315 Headache
HP:0002592 Gastric ulcer
HP:0002619 Varicose veins
HP:0002650 Scoliosis
HP:0003470 Paralysis
HP:0004326 Cachexia
HP:0004380 Aortic valve calcification
HP:0004382 Mitral valve calcification
HP:0004406 Spontaneous, recurrent epistaxis
Displaying 1 entry
Gene ID Gene Symbol Description
2629 GBA1 glucosylceramidase beta 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024