Mucopolysaccharidosis Vi (MPS6) malady
Genetic diseases, Rare diseases, Eye diseases, Bone diseases, Metabolic diseases, Fetal diseases, Neuronal diseases, Skin diseases categories
|Download this MalaCard|
8Disease Ontology, 21Genetics Home Reference, 65Wikipedia, 46OMIM, 32MalaCards
See all sources
Fully expand this MalaCard
Genetics Home Reference:21 Mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy syndrome, is a progressive condition that causes many tissues and organs to enlarge and become inflamed or scarred. Skeletal abnormalities are also common in this condition. The rate at which symptoms worsen varies among affected individuals.
MalaCards based summary: Mucopolysaccharidosis Vi, also known as mucopolysaccharidosis type 6, is related to mucopolysaccharidosis and metachromatic leukodystrophy, and has symptoms including coarse face, corneal clouding/opacity/vascularisation and flared/thick ala nasi. An important gene associated with Mucopolysaccharidosis Vi is ARSB (arylsulfatase B), and among its related pathways are Glycosaminoglycan degradation and Lysosome. The compounds formylglycine and mucopolysaccharide have been mentioned in the context of this disorder. Affiliated tissues include bone, liver and eye.
Disease Ontology:8 A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme n-acetylgalactosamine 4-sulfatase.
Wikipedia:65 Maroteaux?Lamy syndrome (also known as mucopolysaccharidosis type VI, MPS VI, or polydystrophic... more...
Description from OMIM:46 253200
Mucopolysaccharidosis Vi, Aliases & Descriptions:
Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Metabolic diseases, Fetal diseases
Anatomical: Eye diseases, Bone diseases, Neuronal diseases, Skin diseases
Rare eye diseases
Rare bone diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis
Characteristics (Orphanet epidemiological data):48
mucopolysaccharidosis type 6:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Childhood; Age of death: Young adult
Symptoms by clinical synopsis from OMIM:253200
Clinical features from OMIM:253200
Symptoms:48 (show all 27)
HPO human phenotypes related to Mucopolysaccharidosis Vi:(show all 62)
Drug clinical trials:
Search ClinicalTrials for Mucopolysaccharidosis Vi
Search NIH Clinical Center for Mucopolysaccharidosis Vi
The database of embryonic development, stem cell research and regenerative medicine
Read about Mucopolysaccharidosis Vi cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Mucopolysaccharidosis Vi:
Embryonic/Adult Cultured Cells Related to Mucopolysaccharidosis Vi:
MalaCards organs/tissues related to Mucopolysaccharidosis Vi:32
Bone, Liver, Eye, Tongue, Bone marrow, Spinal cord, Testes, Brain, Skin
Articles related to Mucopolysaccharidosis Vi:(show top 50) (show all 99)
UniProtKB/Swiss-Prot genetic disease variations for Mucopolysaccharidosis Vi:64 (show all 29)
Clinvar genetic disease variations for Mucopolysaccharidosis Vi:6
Search GEO for disease gene expression data for Mucopolysaccharidosis Vi.
Pathways related to Mucopolysaccharidosis Vi according to GeneCards/GeneDecks:
Compounds related to Mucopolysaccharidosis Vi according to GeneCards/GeneDecks:(show all 26)
Cellular components related to Mucopolysaccharidosis Vi according to GeneCards/GeneDecks:
Biological processes related to Mucopolysaccharidosis Vi according to GeneCards/GeneDecks:
Molecular functions related to Mucopolysaccharidosis Vi according to GeneCards/GeneDecks:
26ICD10 via Orphanet
35MESH via Orphanet
47OMIM via Orphanet
58SNOMED-CT via Orphanet
63UMLS via Orphanet