fucosidosis

Summary
Synonym
  • A-fucosidase deficiency
  • alpha fucosidase deficiency
Super Class
lysosomal storage disease
Disease Ontology
DOID:14500
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
2517 FUCA1 alpha-L-fucosidase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
71665 Fuca1 fucosidase, alpha-L- 1, tissue
Displaying 1 entry
Gene ID Gene Symbol Description Source
24375 Fuca1 alpha-L-fucosidase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
3772574 Fuca alpha-L-fucosidase
Displaying 1 entry
Gene ID Gene Symbol Description Source
189173 W03G11.3 Putative alpha-L-fucosidase
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P04066 Tissue alpha-L-fucosidase
The Human Phenotype Ontology
Displaying entries 71 - 80 of 82 in total
HPO ID HPO Term
HP:0004322 Short stature
HP:0004558 Cervical platyspondyly
HP:0004568 Beaking of vertebral bodies
HP:0004630 Anterior beaking of thoracic vertebrae
HP:0005280 Depressed nasal bridge
HP:0005453 Absent/hypoplastic paranasal sinuses
HP:0008436 Absent/hypoplastic coccyx
HP:0010471 Oligosacchariduria
HP:0010729 Cherry red spot of the macula
HP:0012067 Glycopeptiduria
Displaying 1 entry
Gene ID Gene Symbol Description
2517 FUCA1 alpha-L-fucosidase 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: December 9, 2024