Mucopolysaccharidosis is malady
Categories: Genetic diseases, Rare diseases, Metabolic diseases, Neuronal diseases, Eye diseases, Bone diseases, Fetal diseases, Oral diseases, Immune diseases, Skin diseases
50OMIM, 33LifeMap Discovery®, 11Disease Ontology, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 37MeSH, 66UMLS, 28ICD10, 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 is:
Orphanet epidemiological data:52
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe),1-9/1000000 (Germany),1-9/100000 (Portugal),1-9/100000 (Netherlands),1-9/1000000 (Sweden),1-9/100000 (Sweden),1-9/100000 (Norway),1-5/10000 (Norway),1-9/1000000 (Denmark),1-9/100000 (Denmark),1-9/1000000 (Ireland),1-9/100000 (United Kingdom),1-9/1000000 (Tunisia),1-9/1000000 (Taiwan, Province of China),1-9/1000000 (Canada),1-9/100000 (Australia),1-9/1000000 (Czech Republic),1-9/1000000 (Europe),1-9/1000000 (Worldwide),1-9/1000000 (Poland); Age of onset: All ages; Age of death: adolescent,late childhood
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Canada),<1/1000000 (United Kingdom); Age of onset: Adolescent,Adult,Childhood; Age of death: elderly
Inheritance: autosomal recessive inheritance
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 i (mps i) is a condition that affects many parts of the body. it is a progressively debilitating disorder; however, the rate of progression varies among affected individuals. mps i is caused by mutations in the idua gene. these mutations lead to reduced levels or the complete lack of the idua enzyme. without the proper amount of this enzyme, large sugar molecules called glycosaminoglycans (gags) accumulate within cells called lysosomes. this causes the lysosomes to increase in size, causing many different organs and tissues of the body to become enlarged. this leads to the medical problems seen in the condition. mps i was once divided into three separate syndromes: hurler syndrome, hurler-scheie syndrome, and scheie syndrome, listed from most to least severe. because no biochemical differences have been identified and the clinical findings overlap, the condition is now divided into two subtypes, severe mps i and attenuated mps i. people with severe mps i typically have an earlier onset of symptoms, a decline in intellectual function, and a shorter lifespan. although there is no cure for mps i, bone marrow transplant and enzyme replacement therapy are treatment options that may help manage the symptoms of this condition. last updated: 2/3/2016
MalaCards based summary: Mucopolysaccharidosis is, also known as scheie syndrome, is related to mucopolysaccharidosis ih/s and malignant migrating partial seizures of infancy, and has symptoms including glaucoma, decreased nerve conduction velocity and limitation of joint mobility. An important gene associated with Mucopolysaccharidosis is is IDUA (Iduronidase, Alpha-L-), and among its related pathways are Galactose metabolism and Amino sugar and nucleotide sugar metabolism. The drug laronidase has been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and eye, and related mouse phenotypes are hearing/vestibular/ear and craniofacial.
Disease Ontology:11 A mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan.
UniProtKB/Swiss-Prot:68 Mucopolysaccharidosis 1S: A mild form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1S may have little or no neurological involvement, normal stature and life span, but present development of joints stiffness, mild hepatosplenomegaly, aortic valve disease and corneal clouding.
Genetics Home Reference:24 Mucopolysaccharidosis type I (MPS I) is a condition that affects many parts of the body. This disorder was once divided into three separate syndromes: Hurler syndrome (MPS I-H), Hurler-Scheie syndrome (MPS I-H/S), and Scheie syndrome (MPS I-S), listed from most to least severe. Because there is so much overlap between each of these three syndromes, MPS I is currently divided into the severe and attenuated types.
OMIM:50 The mucopolysaccharidoses are a group of inherited disorders caused by a lack of specific lysosomal enzymes involved in... (607016) more...
GeneReviews summary for NBK1162
Symptoms by clinical synopsis from OMIM:607016
Clinical features from OMIM:607016
Symptoms:52 (show all 67)
HPO human phenotypes related to Mucopolysaccharidosis is:(show all 75)
UMLS symptoms related to Mucopolysaccharidosis is:hepatomegaly, joint stiffness, thick skin
FDA approved drugs:
Drugs for Mucopolysaccharidosis is (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 37)
Interventional clinical trials:(show top 50) (show all 62)
Search NIH Clinical Center for Mucopolysaccharidosis is
Inferred drug relations via UMLS66/NDF-RT44:
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Mucopolysaccharidosis is cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Mucopolysaccharidosis is:
Embryonic/Adult Cultured Cells Related to Mucopolysaccharidosis is:
MalaCards organs/tissues related to Mucopolysaccharidosis is:34
Bone, Bone marrow, Eye, Heart, Brain, Tonsil, Skin
Data from LifeMap, the Embryonic Development and Stem Cells Database
Cells/anatomical compartments in embryo or adult related to Mucopolysaccharidosis is:
MGI Mouse Phenotypes related to Mucopolysaccharidosis is:39 (show all 12)
Articles related to Mucopolysaccharidosis is:
UniProtKB/Swiss-Prot genetic disease variations for Mucopolysaccharidosis is:68 (show all 14)
Clinvar genetic disease variations for Mucopolysaccharidosis is:5 (show all 17)
Search GEO for disease gene expression data for Mucopolysaccharidosis is.
Pathways related to Mucopolysaccharidosis is according to GeneCards Suite gene sharing:(show all 12)
Cellular components related to Mucopolysaccharidosis is according to GeneCards Suite gene sharing:
Biological processes related to Mucopolysaccharidosis is according to GeneCards Suite gene sharing:(show all 7)
Molecular functions related to Mucopolysaccharidosis is 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