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:51
mucopolysaccharidosis type iii:
Inheritance: Autosomal recessive; Age of onset: Childhood
mucopolysaccharidosis type iiia:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe),1-9/100000 (Worldwide)
Global: Genetic diseases, Rare diseases, Metabolic diseases, Fetal diseases
Anatomical: Neuronal diseases, Eye diseases, Bone diseases, Oral diseases, Immune diseases, Skin diseases
ICD10: 28 27
Rare neurological diseases
Rare eye diseases
Rare bone diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis
NIH Rare Diseases:45 Mucopolysaccharidosis type iii (mps iii) is a genetic disorder that makes the body unable to break down large sugar molecules called glycosaminoglycans (gags, formerly called mucopolysaccharides). specifically, people with this condition are unable to break down a gag called heparan sulfate. affected individuals can have severe neurological symptoms, including 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 iii is inherited in an autosomal recessive manner. there is no specific treatment for this condition. most people with mps iii live into their teenage years, and some live longer. mps iii is divided into four subtypes, known as a, b, c and d. each subtype is caused by the alteration of a different enzyme needed to completely break down heparan sulfate. the different types of mps iii have similar signs and symptoms, although type a is the most severe.to view the gard pages on the subtypes of mps iii, click on the following links: mucopolysaccharidosis type iiia mucopolysaccharidosis type iiib mucopolysaccharidosis type iiic mucopolysaccharidosis type iiid last updated: 7/7/2011
MalaCards based summary: Mucopolysaccharidosis Iii, also known as mucopolysaccharidosis type iiia, is related to heparane sulfamidase deficiency and mucopolysaccharidosis, 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 Gamma carboxylation, hypusine formation and arylsulfatase activation and Glycosaminoglycan metabolism. Affiliated tissues include brain, spinal cord and bone.
Disease Ontology:10 A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain.
Genetics Home Reference:23 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:68 Sanfilippo syndrome, or mucopolysaccharidosis III (MPS-III) is a rare autosomal recessive lysosomal... more...
Symptoms:51 (show all 31)
HPO human phenotypes related to Mucopolysaccharidosis Iii:(show all 27)
UMLS symptoms related to Mucopolysaccharidosis Iii:joint stiffness, sleep disturbances, seizures, diarrhea
Drugs for Mucopolysaccharidosis Iii (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show top 50) (show all 84)
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:33
Brain, Spinal cord, Bone, Liver, Eye, Testes, Endothelial
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:
Biological processes related to Mucopolysaccharidosis Iii according to GeneCards Suite gene sharing:
Molecular functions related to Mucopolysaccharidosis Iii 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