MPS II
E950113
MPS II, also known as Hunter syndrome, is a rare X-linked lysosomal storage disorder caused by iduronate-2-sulfatase deficiency, leading to progressive multi-organ dysfunction and developmental impairment.
Statements (52)
| Predicate | Object |
|---|---|
| instanceOf |
X-linked genetic disorder
ⓘ
lysosomal storage disease ⓘ mucopolysaccharidosis ⓘ rare disease ⓘ |
| hasAlternativeName |
Hunter syndrome
NERFINISHED
ⓘ
Mucopolysaccharidosis type II NERFINISHED ⓘ |
| hasCause | iduronate-2-sulfatase deficiency ⓘ |
| hasChromosomalLocation | Xq28 ⓘ |
| hasClinicalFeature |
airway obstruction
ⓘ
behavioral problems ⓘ cardiac valve disease ⓘ cardiomyopathy ⓘ coarse facial features ⓘ dysostosis multiplex ⓘ hearing loss ⓘ hepatosplenomegaly ⓘ inguinal hernia ⓘ intellectual disability ⓘ joint stiffness ⓘ progressive developmental delay ⓘ recurrent ear infections ⓘ short stature ⓘ sleep apnea ⓘ spinal canal stenosis ⓘ umbilical hernia ⓘ |
| hasComplication |
neurological deterioration
ⓘ
progressive cardiac disease ⓘ progressive respiratory failure ⓘ |
| hasDiagnosticTest |
measurement of iduronate-2-sulfatase activity
ⓘ
molecular genetic testing of IDS gene ⓘ urinary glycosaminoglycan analysis ⓘ |
| hasEpidemiology | ultra-rare disorder ⓘ |
| hasGeneSymbol | IDS NERFINISHED ⓘ |
| hasInheritancePattern | X-linked recessive ⓘ |
| hasManagement | multidisciplinary care ⓘ |
| hasOnset | childhood ⓘ |
| hasPathophysiology |
accumulation of glycosaminoglycans
ⓘ
impaired degradation of dermatan sulfate ⓘ impaired degradation of heparan sulfate ⓘ |
| hasSubtypes |
attenuated form
ⓘ
severe form ⓘ |
| hasTreatment |
enzyme replacement therapy
ⓘ
idursulfase ⓘ idursulfase beta NERFINISHED ⓘ |
| hasTreatmentGoal |
improve organ function
ⓘ
reduce glycosaminoglycan accumulation ⓘ |
| isEncodedByGene | IDS gene NERFINISHED ⓘ |
| isListedIn |
OMIM:309900
ⓘ
Orphanet:558 ⓘ |
| isMoreCommonIn | males ⓘ |
| isNamedAfter | Charles Hunter NERFINISHED ⓘ |
| isRareIn | females ⓘ |
Referenced by (1)
Full triples — surface form annotated when it differs from this entity's canonical label.