Mucopolysaccharidosis Ii malady
Categories: Genetic diseases, Rare diseases, Metabolic diseases, Neuronal diseases, Eye diseases, Bone diseases, Skin diseases, Fetal diseases, Oral diseases
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 26GTR, 29ICD10, 30ICD10 via Orphanet, 34LifeMap Discovery®, 36MedGen, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
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Aliases & Descriptions for Mucopolysaccharidosis Ii:
Orphanet epidemiological data:53
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),1-5/10000 (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),1-9/1000000 (Poland); Age of onset: Childhood; Age of death: adult
Inheritance: x-linked recessive inheritance
Penetrance: penetrance of mps ii in males is complete; however, it is anticipated that if newborn screening becomes available for mps ii, much milder presentations would be documented. ...
Global: Genetic diseases, Rare diseases, Metabolic diseases, Fetal diseases
Anatomical: Neuronal diseases, Eye diseases, Bone diseases, Skin diseases, Oral diseases
ICD10: 30 29
Rare neurological diseases
Rare eye diseases
Rare bone diseases
Rare skin diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis
NIH Rare Diseases:47 Mucopolysaccharidosis II (MPS II) is an inherited disorder of carbohydrate metabolism that occurs almost exclusively in males. It is characterized by distinctive facial features, a large head, hydrocephalus, enlargement of the liver and spleen (hepatosplenomegaly), umbilical or inguinal hernia, and hearing loss. Individuals with this condition may additionally have joint deformities and heart abnormalities involving the valves. MPS II is caused by mutations in the IDS gene and is inherited in an X-linked manner. There is a wide range in severity of symptoms present in individuals with MPS II. Previously, MPS II was classified as severe and attenuated based on severity. More recently, the terms slowly progressive and early progressive have been suggested. 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 less severe type typically live into adulthood and intelligence is not affected. Treatment is focused on managing the signs and symptoms present in each individual. Last updated: 6/20/2016
MalaCards based summary: Mucopolysaccharidosis Ii, also known as hunter syndrome, is related to mucopolysaccharidosis is and mucopolysaccharidosis type 2, attenuated form, 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 Glycosaminoglycan degradation and Gamma carboxylation, hypusine formation and arylsulfatase activation. Affiliated tissues include heart, spleen and liver.
Disease Ontology:11 A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme iduronate sulfatase.
UniProtKB/Swiss-Prot:69 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.
Genetics Home Reference:25 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:51 Mucopolysaccharidosis II is a rare X-linked recessive disorder caused by deficiency of the lysosomal enzyme iduronate... (309900) more...
GeneReviews for NBK1274
Human phenotypes related to Mucopolysaccharidosis Ii:63 53 (show all 62)
UMLS symptoms related to Mucopolysaccharidosis Ii:diarrhea, hepatomegaly, hoarseness, seizures
FDA approved drugs:
Drugs for Mucopolysaccharidosis Ii (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show top 50) (show all 93)
Interventional clinical trials:(show top 50) (show all 54)
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:35
Heart, Spleen, Liver, Bone, Brain, Skin, Testes
Articles related to Mucopolysaccharidosis Ii:(show top 50) (show all 55)
UniProtKB/Swiss-Prot genetic disease variations for Mucopolysaccharidosis Ii:69 (show all 126)
Clinvar genetic disease variations for Mucopolysaccharidosis Ii:5 (show all 63)
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:
Molecular functions related to Mucopolysaccharidosis Ii according to GeneCards Suite gene sharing:
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet