Mucopolysaccharidosis Iii malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Bone diseases, Metabolic diseases, Fetal diseases, Oral diseases, Skin diseases
Aliases & Descriptions for Mucopolysaccharidosis Iii:
Orphanet epidemiological data:53
mucopolysaccharidosis type iii:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Germany),1-9/1000000 (Portugal),1-9/100000 (Netherlands),1-9/100000 (Australia),1-9/1000000 (Czech Republic),1-9/1000000 (Sweden),1-9/100000 (Sweden),1-9/1000000 (Norway),1-9/1000000 (Denmark),1-9/1000000 (Ireland),1-9/1000000 (Canada),1-9/1000000 (Taiwan, Province of China),1-9/1000000 (Tunisia),1-9/1000000 (Europe),1-9/1000000 (Poland); Age of onset: Childhood
Global: Genetic diseases, Rare diseases, Metabolic diseases, Fetal diseases
Anatomical: Neuronal diseases, Eye diseases, Bone diseases, Oral diseases, Skin diseases
ICD10: 30 29
Rare neurological diseases
Rare eye diseases
Rare bone diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis
Genetics Home Reference:25 Mucopolysaccharidosis type III (MPS III), also known as Sanfilippo syndrome, is a progressive disorder that mainly affects the brain and spinal cord (central nervous system).
MalaCards based summary: Mucopolysaccharidosis Iii, also known as mucopolysaccharidosis type iiia, is related to heparane sulfamidase deficiency and mucopolysaccharidisis type iiia, and has symptoms including otitis media, hypertrichosis and malabsorption. An important gene associated with Mucopolysaccharidosis Iii is NAGLU (N-Acetyl-Alpha-Glucosaminidase), and among its related pathways are Gamma carboxylation, hypusine formation and arylsulfatase activation and Glycosaminoglycan metabolism. Affiliated tissues include brain, spinal cord and bone.
Disease Ontology:11 A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain.
Wikipedia:70 Sanfilippo syndrome, or mucopolysaccharidosis III (MPS-III) is a rare autosomal recessive lysosomal... more...
Human phenotypes related to Mucopolysaccharidosis Iii:63 53 (show all 36)
UMLS symptoms related to Mucopolysaccharidosis Iii:diarrhea, seizures, joint stiffness, sleep disturbances
Drugs for Mucopolysaccharidosis Iii (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show top 50) (show all 90)
Interventional clinical trials:(show all 36)
Search NIH Clinical Center for Mucopolysaccharidosis Iii
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Mucopolysaccharidosis Iii cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Mucopolysaccharidosis Iii:
Embryonic/Adult Cultured Cells Related to Mucopolysaccharidosis Iii:
MalaCards organs/tissues related to Mucopolysaccharidosis Iii:35
Brain, Spinal cord, Bone, Testes, Eye
Articles related to Mucopolysaccharidosis Iii:(show all 25)
Clinvar genetic disease variations for Mucopolysaccharidosis Iii:5 (show all 22)
Search GEO for disease gene expression data for Mucopolysaccharidosis Iii.
Pathways related to Mucopolysaccharidosis Iii according to GeneCards Suite gene sharing:
Cellular components related to Mucopolysaccharidosis Iii according to GeneCards Suite gene sharing:
Biological processes related to Mucopolysaccharidosis Iii according to GeneCards Suite gene sharing:
Molecular functions related to Mucopolysaccharidosis Iii according to GeneCards Suite gene sharing:
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet