Mucopolysaccharidosis Iii malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Bone diseases, Metabolic diseases, Fetal diseases, Oral diseases, Immune diseases, Skin diseases
Aliases & Descriptions for Mucopolysaccharidosis Iii:
Orphanet epidemiological data:52
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, Immune diseases, Skin diseases
ICD10: 29 28
Rare neurological diseases
Rare eye diseases
Rare bone diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis
NIH Rare Diseases:46 Mucopolysaccharidosis type iiia (mps iiia) is a severe, progressive disorder that affects the central nervous system. in people with mps iiia, the body cannot break down a large sugar molecule called heparin sulfate. signs and symptoms usually begin in early childhood and include severe neurological symptoms such as progressive dementia, aggressive behavior, hyperactivity, seizures, deafness, loss of vision, and an inability to sleep for more than a few hours at a time. mps iiia is caused by mutations in the sgsh gene and is inherited in an autosomal recessive manner. there is currently no specific treatment for mps iiia; affected people usually do not survive past the second decade of life. last updated: 7/21/2015
MalaCards based summary: Mucopolysaccharidosis Iii, also known as mucopolysaccharidosis type iiia, is related to mucopolysaccharidosis and mucopolysaccharidosis type iiib, and has symptoms including otitis media, hypertrichosis and malabsorption. An important gene associated with Mucopolysaccharidosis Iii is SGSH (N-Sulfoglucosamine Sulfohydrolase), and among its related pathways are Glycosaminoglycan degradation and Gamma carboxylation, hypusine formation and arylsulfatase activation. 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.
Genetics Home Reference:24 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).
Wikipedia:69 Sanfilippo syndrome, or mucopolysaccharidosis III (MPS-III) is a rare autosomal recessive lysosomal... more...
Symptoms:52 (show all 29)
HPO human phenotypes related to Mucopolysaccharidosis Iii:(show all 27)
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 all 33)
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:34
Brain, Spinal cord, Bone, Testes, Eye
Articles related to Mucopolysaccharidosis Iii:(show all 25)
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:
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet