Mucopolysaccharidosis Type Vi malady
Categories: Genetic diseases, Rare diseases, Eye diseases, Bone diseases, Metabolic diseases, Fetal diseases, Neuronal diseases, Oral diseases, Immune diseases, Skin diseases
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 51Orphanet, 67UniProtKB/Swiss-Prot, 32LifeMap Discovery®, 10Disease Ontology, 12DISEASES, 36MeSH, 65UMLS, 47Novoseek, 24GTR, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
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Aliases & Descriptions for Mucopolysaccharidosis Type Vi:
Orphanet epidemiological data:51
mucopolysaccharidosis type vi:
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: young Adult
mucopolysaccharidosis type vi:
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases, Metabolic diseases, Fetal diseases
Anatomical: Eye diseases, Bone diseases, Neuronal diseases, Oral diseases, Immune diseases, Skin diseases
Rare eye diseases
Rare bone diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis
OMIM:49 Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of... (253200) more...
MalaCards based summary: Mucopolysaccharidosis Type Vi, also known as arylsulfatase b deficiency, is related to mucopolysaccharidosis type 6, slowly progressing and mucopolysaccharidosis type 6, rapidly progressing, and has symptoms including mucopolysacchariduria, opacification of the corneal stroma and abnormality of epiphysis morphology. An important gene associated with Mucopolysaccharidosis Type Vi is ARSB (Arylsulfatase B), and among its related pathways are Glycosaminoglycan degradation and Sphingolipid metabolism. Affiliated tissues include bone, heart and tongue, and related mouse phenotype skeleton.
Disease Ontology:10 A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme N-acetylgalactosamine 4-sulfatase.
UniProtKB/Swiss-Prot:67 Mucopolysaccharidosis 6: An autosomal recessive lysosomal storage disease characterized by intracellular accumulation of dermatan sulfate. Clinical features can include abnormal growth, short stature, stiff joints, skeletal malformations, corneal clouding, hepatosplenomegaly, and cardiac abnormalities. A wide variation in clinical severity is observed.
Genetics Home Reference:23 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.
Symptoms by clinical synopsis from OMIM:253200
Clinical features from OMIM:253200
Symptoms:51 (show all 27)
HPO human phenotypes related to Mucopolysaccharidosis Type Vi:(show all 59)
UMLS symptoms related to Mucopolysaccharidosis Type Vi:joint stiffness, hepatomegaly
Drugs for Mucopolysaccharidosis Type Vi (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show top 50) (show all 70)
Interventional clinical trials:(show all 27)
Search NIH Clinical Center for Mucopolysaccharidosis Type Vi
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Mucopolysaccharidosis Type Vi cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Mucopolysaccharidosis Type Vi:
Embryonic/Adult Cultured Cells Related to Mucopolysaccharidosis Type Vi:
MalaCards organs/tissues related to Mucopolysaccharidosis Type Vi:33
Bone, Heart, Tongue, Brain, Eye, Bone marrow, Liver
Articles related to Mucopolysaccharidosis Type Vi:(show top 50) (show all 75)
UniProtKB/Swiss-Prot genetic disease variations for Mucopolysaccharidosis Type Vi:67 (show all 29)
Clinvar genetic disease variations for Mucopolysaccharidosis Type Vi:5
Search GEO for disease gene expression data for Mucopolysaccharidosis Type Vi.
Pathways related to Mucopolysaccharidosis Type Vi according to GeneCards Suite gene sharing:
Biological processes related to Mucopolysaccharidosis Type Vi according to GeneCards Suite gene sharing:
Molecular functions related to Mucopolysaccharidosis Type Vi 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