Mucopolysaccharidosis Ii malady
Genetic diseases, Rare diseases, Metabolic diseases, Neuronal diseases, Eye diseases, Bone diseases, Skin diseases, Fetal diseases categories
49OMIM, 32LifeMap Discovery®, 10Disease Ontology, 11diseasecard, 12DISEASES, 65UMLS, 36MeSH, 21GeneReviews, 45NIH Rare Diseases, 23Genetics Home Reference, 51Orphanet, 67UniProtKB/Swiss-Prot, 24GTR, 22GeneTests, 47Novoseek, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 27ICD10, 34MedGen
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Aliases & Descriptions for Mucopolysaccharidosis Ii:
MalaCards categories: See all MalaCards categories (disease lists)
Global: Genetic diseases, Rare diseases, Metabolic diseases, Fetal diseases
Anatomical: Neuronal diseases, Eye diseases, Bone diseases, Skin diseases
ICD10: 28 27
Rare neurological diseases
Rare eye diseases
Rare bone diseases
Rare skin diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis
Characteristics (Orphanet epidemiological data):51
iduronate 2-sulfatase deficiency:
Inheritance: X-linked recessive; Prevalence: 1-9/1000000 (Europe),1-9/1000000 (Sweden),1-9/100000 (Denmark),1-9/1000000 (Czech Republic),1-9/1000000 (Ireland),1-9/100000 (Taiwan, Province of China),1-9/1000000 (Australia),1-9/100000 (Estonia),1-9/1000000 (Canada),1-9/100000 (Europe),1-9/100000 (Portugal),1-9/1000000 (Germany),1-9/100000 (Italy),1-9/1000000 (Netherlands),1-9/100000 (Sweden),1-9/1000000 (Norway),1-9/100000 (Norway),1-9/1000000 (Denmark),1-9/1000000 (Worldwide); Age of onset: Childhood; Age of death: adult
NIH Rare Diseases:45 Mucopolysaccharidosis ii (mps ii), also commonly known as hunter syndrome, is a condition that occurs almost exclusively in males. affected individuals typically have distinctive facial features, a large head, hydrocephalus, an enlarged liver and spleen, umbilical or inguinal hernia, and hearing loss. individuals with this condition may have joint deformities and heart valve problems. mps ii is caused by mutations in the ids gene.there are two types of mps ii, called the severe and attenuated types. while both types affect many different parts of the body, people with the severe type also experience a decline in intellectual function and a more rapid disease progression. the life expectancy for people with the severe type is 10 to 20 years. individuals with the attenuated type typically live into adulthood and their intelligence is not affected. heart disease and airway obstruction are major causes of death in people with both types of mps ii. last updated: 12/29/2008
MalaCards based summary: Mucopolysaccharidosis Ii, also known as iduronate 2-sulfatase deficiency, is related to mucopolysaccharidosis is and mucopolysaccharidosis iv, and has symptoms including abnormality of the teeth, thin vermilion border and macrocephaly. An important gene associated with Mucopolysaccharidosis Ii is IDS (Iduronate 2-Sulfatase), and among its related pathways are Gamma carboxylation, hypusine formation and arylsulfatase activation and Heparan sulfate/heparin (HS-GAG) metabolism. Affiliated tissues include heart, liver and spleen, and related mouse phenotype skeleton.
Disease Ontology:10 A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme iduronate sulfatase.
Genetics Home Reference:23 Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a condition that affects many different parts of the body and occurs almost exclusively in males. It is a progressively debilitating disorder; however, the rate of progression varies among affected individuals.
OMIM:49 Mucopolysaccharidosis II is a rare X-linked recessive disorder caused by deficiency of the lysosomal enzyme iduronate... (309900) more...
UniProtKB/Swiss-Prot:67 Mucopolysaccharidosis 2: An X-linked lysosomal storage disease characterized by intracellular accumulation of heparan sulfate and dermatan sulfate and their excretion in urine. Most children with MPS2 have a severe form with early somatic abnormalities including skeletal deformities, hepatosplenomegaly, and progressive cardiopulmonary deterioration. A prominent feature is neurological damage that presents as developmental delay and hyperactivity but progresses to mental retardation and dementia. They die before 15 years of age, usually as a result of obstructive airway disease or cardiac failure. In contrast, those with a mild form of MPS2 may survive into adulthood, with attenuated somatic complications and often without mental retardation.
GeneReviews summary for hunter
Symptoms by clinical synopsis from OMIM:309900
Clinical features from OMIM:309900
Symptoms:51 (show all 35)
HPO human phenotypes related to Mucopolysaccharidosis Ii:(show all 73)
Drugs for Mucopolysaccharidosis Ii (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 50)
Interventional clinical trials:(show all 48)
Search NIH Clinical Center for Mucopolysaccharidosis Ii
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Mucopolysaccharidosis Ii cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Mucopolysaccharidosis Ii:
Embryonic/Adult Cultured Cells Related to Mucopolysaccharidosis Ii:
MalaCards organs/tissues related to Mucopolysaccharidosis Ii:33
Heart, Liver, Spleen, Skin, Bone, Tongue, Eye
Articles related to Mucopolysaccharidosis Ii:(show top 50) (show all 53)
UniProtKB/Swiss-Prot genetic disease variations for Mucopolysaccharidosis Ii:67 (show all 126)
Clinvar genetic disease variations for Mucopolysaccharidosis Ii:5 (show all 28)
Search GEO for disease gene expression data for Mucopolysaccharidosis Ii.
Pathways related to Mucopolysaccharidosis Ii according to GeneCards Suite gene sharing:
Cellular components related to Mucopolysaccharidosis Ii according to GeneCards Suite gene sharing:
Biological processes related to Mucopolysaccharidosis Ii according to GeneCards Suite gene sharing:(show all 7)
Molecular functions related to Mucopolysaccharidosis Ii 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