Categories: Genetic diseases, Rare diseases, Bone diseases, Metabolic diseases, Fetal diseases, Eye diseases, Mental diseases
49OMIM, 32LifeMap Discovery®, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 36MeSH, 24GTR, 65UMLS, 27ICD10, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
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Aliases & Descriptions for Fucosidosis:
Orphanet epidemiological data:51
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases, Metabolic diseases, Fetal diseases
Anatomical: Bone diseases, Eye diseases, Mental diseases
ICD10: 28 27
Rare bone diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis
NIH Rare Diseases:45 Fucosidosis is a lysosomal storage disease that affects many areas of the body, especially the brain. affected individuals have intellectual disability that worsens with age, and many develop dementia later in life. people with this condition often have delayed development of motor skills such as walking, and the skills they do acquire often deteriorate over time. in severe cases, symptoms appear in infancy; in milder cases, symptoms begin at age 1 or 2. fucosidosis is caused by mutations in the fuca1 gene. this condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. the only currently available treatment is bone marrow transplant, the results of which have been variable and need further study. last updated: 11/19/2013
MalaCards based summary: Fucosidosis, also known as alpha-l-fucosidase deficiency, is related to fucosidosis type 1 and pharyngitis, and has symptoms including lipoatrophy, cognitive impairment and mucopolysacchariduria. An important gene associated with Fucosidosis is FUCA1 (Fucosidase, Alpha-L- 1, Tissue), and among its related pathways are Other glycan degradation and Glycosphingolipid biosynthesis - globo series. Affiliated tissues include bone, brain and skin.
Genetics Home Reference:23 Fucosidosis is a condition that affects many areas of the body, especially the brain. Affected individuals have intellectual disability that worsens with age, and many develop dementia later in life. People with this condition often have delayed development of motor skills such as walking; the skills they do acquire deteriorate over time. Additional signs and symptoms of fucosidosis include impaired growth; abnormal bone development (dysostosis multiplex); seizures; abnormal muscle stiffness (spasticity); clusters of enlarged blood vessels forming small, dark red spots on the skin (angiokeratomas); distinctive facial features that are often described as "coarse"; recurrent respiratory infections; and abnormally large abdominal organs (visceromegaly).
OMIM:49 Fucosidosis is an autosomal recessive lysosomal storage disease caused by defective alpha-L-fucosidase with... (230000) more...
UniProtKB/Swiss-Prot:67 Fucosidosis: An autosomal recessive lysosomal storage disease characterized by accumulation of fucose-containing glycolipids and glycoproteins in various tissues. Clinical signs include facial dysmorphism, dysostosis multiplex, moderate hepatomegaly, severe intellectual deficit, deafness, and according to age, angiokeratomas.
Wikipedia:68 Fucosidosis is a rare lysosomal storage disorder in which the FUCA1 gene experiences mutations that... more...
Symptoms by clinical synopsis from OMIM:230000
Clinical features from OMIM:230000
Symptoms:51 (show all 35)
HPO human phenotypes related to Fucosidosis:(show all 66)
Drugs for Fucosidosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show top 50) (show all 68)
Interventional clinical trials:
Search NIH Clinical Center for Fucosidosis
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Fucosidosis cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Fucosidosis:
Embryonic/Adult Cultured Cells Related to Fucosidosis:
MalaCards organs/tissues related to Fucosidosis:33
Bone, Brain, Skin, Bone marrow, Liver, Skeletal muscle, Lung
Articles related to Fucosidosis:(show top 50) (show all 181)
UniProtKB/Swiss-Prot genetic disease variations for Fucosidosis:67
Clinvar genetic disease variations for Fucosidosis:5 (show all 14)
Search GEO for disease gene expression data for Fucosidosis.
Pathways related to Fucosidosis according to GeneCards Suite gene sharing:
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet