Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

GENE - TERM ANNOTATION REPORT

RGD ID: 12350565
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: FUCA1
Name: alpha-L-fucosidase 1
Acc ID: DOID:14500
Term: fucosidosis
Definition: An autosomal recessive lysosomal storage disease caused by a deficiency of ALPHA-L-FUCOSIDASE activity resulting in an accumulation of fucose containing SPHINGOLIPIDS; GLYCOPROTEINS, and mucopolysaccharides (GLYCOSAMINOGLYCANS) in lysosomes. The infantile form (type I) features psychomotor deterioration, MUSCLE SPASTICITY, coarse facial features, growth retardation, skeletal abnormalities, visceromegaly, SEIZURES, recurrent infections, and MACROGLOSSIA, with death occurring in the first decade of life. Juvenile fucosidosis (type II) is the more common variant and features a slowly progressive decline in neurologic function and angiokeratoma corporis diffusum. Type II survival may be through the fourth decade of life. (From Menkes, Textbook of Child Neurology, 5th ed, p87; Am J Med Genet 1991 Jan;38(1):111-31)
Definition Source(s): MESH:D005645
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.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
FUCA1 ISOFUCA1 (Homo sapiens)7240710OMIM  
FUCA1 ISOFUCA1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: FucosidosisPMID:10094192 PMID:10496076 PMID:1214294 PMID:12408193 PMID:1281988 PMID:16199547 PMID:17427030 PMID:17576681 PMID:2012122 PMID:23210910 PMID:24033266 PMID:24767253 PMID:25640679 PMID:25741868 PMID:2642067 PMID:26515723 PMID:27706744 PMID:28097321 PMID:28492532 PMID:30109123 PMID:31064022 PMID:31618753 PMID:31980526 PMID:33266441 PMID:36082656 PMID:7581404 PMID:7815431 PMID:8097260 PMID:8401503 PMID:8504303 PMID:8739734 PMID:9039984 PMID:9536098 PMID:9762612
FUCA1 IAGP 12801476OMIAFucosidosis, alphaPMID:7072491 PMID:2642067 PMID:2530677 PMID:2760271 PMID:1559875 PMID:1609845 PMID:1413057 PMID:1525209 PMID:8730282 PMID:8661697 PMID:8960193 PMID:9267851 PMID:6880626 PMID:6477509 PMID:4050341 PMID:4071939 PMID:3547950 PMID:10376901 PMID:21575633 PMID:21683140 PMID:21282938 PMID:21056668 PMID:10655154 PMID:3196299 PMID:3278467 PMID:2876234 PMID:3515668 PMID:3833197 PMID:6463379 PMID:23121383 PMID:27491218 PMID:32219101
Go Back to source page   Continue to Ontology report