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
50OMIM, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 52Orphanet, 68UniProtKB/Swiss-Prot, 12diseasecard, 33LifeMap Discovery®, 11Disease Ontology, 13DISEASES, 37MeSH, 66UMLS, 48Novoseek, 25GTR, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
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Aliases & Descriptions for Mucopolysaccharidosis Type Vi:
Orphanet epidemiological data:52
mucopolysaccharidosis type vi:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Germany),1-9/1000000 (Netherlands),1-9/1000000 (Portugal),<1/1000000 (Sweden),1-9/100000 (Sweden),<1/1000000 (Norway),1-9/100000 (Norway),<1/1000000 (Denmark),1-9/100000 (Denmark),<1/1000000 (Czech Republic),1-9/1000000 (Australia),1-9/1000000 (Canada),1-9/1000000 (Taiwan, Province of China),1-9/1000000 (Estonia),<1/1000000 (Colombia),1-9/1000000 (Europe),1-9/100000 (Turkey),<1/1000000 (Poland),1-9/100000 (Saudi Arabia),1-5/10000 (Brazil); 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:50 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 thick lower lip vermilion, sinusitis and coarse facial features. 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 eye, and related mouse phenotype skeleton.
Disease Ontology:11 A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme n-acetylgalactosamine 4-sulfatase.
Genetics Home Reference:24 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.
UniProtKB/Swiss-Prot:68 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.
Symptoms by clinical synopsis from OMIM:253200
Clinical features from OMIM:253200
Symptoms:52 (show all 26)
HPO human phenotypes related to Mucopolysaccharidosis Type Vi:(show all 59)
UMLS symptoms related to Mucopolysaccharidosis Type Vi:hepatomegaly, joint stiffness
Drugs for Mucopolysaccharidosis Type Vi (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 25)
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:34
Bone, Heart, Eye, Bone marrow, Tongue, Brain, Testes
Articles related to Mucopolysaccharidosis Type Vi:(show top 50) (show all 75)
UniProtKB/Swiss-Prot genetic disease variations for Mucopolysaccharidosis Type Vi:68 (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:
Cellular components related to Mucopolysaccharidosis Type Vi according to GeneCards Suite gene sharing:
Biological processes related to Mucopolysaccharidosis Type Vi according to GeneCards Suite gene sharing:(show all 9)
Molecular functions related to Mucopolysaccharidosis Type Vi 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