Mucopolysaccharidosis type II
GPTKB entity
Properties (69)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
Mucopolysaccharidosis
|
| gptkbp:advertising |
aim to educate about the disorder
|
| gptkbp:advocacy |
support research and awareness
|
| gptkbp:associatedWith |
vision problems
intellectual disability respiratory issues enlarged liver enlarged spleen short stature |
| gptkbp:causedBy |
deficiency of iduronate-2-sulfatase
|
| gptkbp:clinicalTrials |
gene therapy trials
developed for management new drug trials may include behavioral issues may include cardiovascular issues may include carpal tunnel syndrome may include chronic pain may include dental issues may include endocrine issues may include fatigue may include gastrointestinal issues may include hearing impairment may include hernias may include hydrocephalus may include learning difficulties may include mobility issues may include neurological issues may include pain syndromes may include respiratory infections may include skin problems may include sleep apnea may include social challenges may include urinary issues may include vision impairment ongoing studies for treatment efficacy progressive nature of symptoms variable severity among patients |
| gptkbp:demographics |
1 in 100,000 live births
|
| gptkbp:diseaseResistance |
genetic testing
clinical evaluation enzyme assay urine glycosaminoglycan analysis |
| gptkbp:educational_programs |
available for healthcare providers
|
| gptkbp:geneticDiversity |
recommended for families
mutations_in_the_IDS_gene |
| gptkbp:healthcare |
exists for tracking cases
|
| gptkbp:historicalContext |
part of a group of mucopolysaccharidoses
|
| https://www.w3.org/2000/01/rdf-schema#label |
Mucopolysaccharidosis type II
|
| gptkbp:impact |
symptomatic treatment
enzyme replacement therapy improved quality of life with treatment variable response to therapy |
| gptkbp:introduced |
1950s
|
| gptkbp:legalEvent |
varies widely
often reduced due to complications |
| gptkbp:nobleFamily |
X-linked recessive
|
| gptkbp:previouslyKnownAs |
gptkb:Hunter_syndrome
|
| gptkbp:publications |
numerous studies published in medical journals
|
| gptkbp:research |
increasing for rare diseases
|
| gptkbp:researchFocus |
gene therapy
symptom management strategies new enzyme replacement therapies |
| gptkbp:supports |
available for affected families
|
| gptkbp:symptoms |
hearing loss
joint stiffness skeletal abnormalities coarse facial features cardiac problems |
| gptkbp:type |
lysosomal storage disorder
|