Mucopolysaccharidosis type IV
GPTKB entity
Properties (50)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
Mucopolysaccharidosis
|
| gptkbp:advertising |
ongoing
|
| gptkbp:advocacy |
active
|
| gptkbp:associatedWith |
respiratory problems
neurological issues dental issues cardiac issues |
| gptkbp:causedBy |
gptkb:deficiency_of_N-acetylgalactosamine-6-sulfate_sulfatase
|
| gptkbp:clinicalTrials |
available
ongoing progressive variable expressivity multisystem involvement early onset |
| gptkbp:demographics |
rare disorder
|
| gptkbp:diseaseResistance |
genetic testing
enzyme assay |
| gptkbp:firstDescribedBy |
in 1971
|
| gptkbp:funding |
non-profit organizations
government grants private donations |
| gptkbp:geneticDiversity |
chromosome 16
GALNS |
| gptkbp:healthcare |
exists
|
| https://www.w3.org/2000/01/rdf-schema#label |
Mucopolysaccharidosis type IV
|
| gptkbp:impact |
surgery
physical therapy significant symptomatic treatment pain management enzyme replacement therapy orthopedic interventions |
| gptkbp:legalEvent |
varies by severity
|
| gptkbp:nationality |
all ethnic groups
|
| gptkbp:nobleFamily |
autosomal recessive
|
| gptkbp:previouslyKnownAs |
Morquio syndrome
|
| gptkbp:researchFocus |
gene therapy
symptom management strategies new enzyme replacement therapies |
| gptkbp:researchInterest |
various medical research centers
|
| gptkbp:subclass |
Morquio A syndrome
Morquio B syndrome |
| gptkbp:supports |
available
|
| gptkbp:symptoms |
childhood
hearing loss short stature joint stiffness skeletal abnormalities corneal clouding |
| gptkbp:type |
lysosomal storage disorder
|