Mucopolysaccharidosis Ii malady
Genetic diseases, Rare diseases, Metabolic diseases, Neuronal diseases, Eye diseases, Bone diseases, Skin diseases, Fetal diseases categories
46OMIM, 30LifeMap Discovery®, 8Disease Ontology, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 44Novoseek, 48Orphanet, 22GTR, 61UMLS, 56SNOMED-CT, 33MeSH, 39NCIt, 34MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet, 25ICD10
See all sources
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: 26 25
Rare neurological diseases
Rare eye diseases
Rare bone diseases
Rare skin diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis
Characteristics (Orphanet epidemiological data):48
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:42 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 hunter syndrome, is related to mucopolysaccharidosis and mucopolysaccharidosis ih, 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). Affiliated tissues include heart, liver and spleen.
Disease Ontology:8 A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme iduronate sulfatase.
Genetics Home Reference:21 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:46 Mucopolysaccharidosis II is a rare X-linked recessive disorder caused by deficiency of the lysosomal enzyme iduronate... (309900) more...
GeneReviews summary for hunter
Symptoms by clinical synopsis from OMIM:309900
Clinical features from OMIM:309900
Symptoms:48 (show all 35)
HPO human phenotypes related to Mucopolysaccharidosis Ii:(show all 74)
Drug clinical trials:
Search ClinicalTrials for Mucopolysaccharidosis Ii
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:31
Heart, Liver, Spleen, Skin, Bone, Tongue, Eye, Brain, Testes
Articles related to Mucopolysaccharidosis Ii:(show top 50) (show all 53)
UniProtKB/Swiss-Prot genetic disease variations for Mucopolysaccharidosis Ii:63 (show all 126)
Clinvar genetic disease variations for Mucopolysaccharidosis Ii:5 (show all 13)
Search GEO for disease gene expression data for Mucopolysaccharidosis Ii.
26ICD10 via Orphanet
34MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet