Statements (46)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
rare disease
lysosomal storage disorder mucopolysaccharidosis |
| gptkbp:accumulationOf |
dermatan sulfate
heparan sulfate |
| gptkbp:affects |
mainly males
|
| gptkbp:alsoKnownAs |
gptkb:MPS_II
|
| gptkbp:category |
genetic disorder
metabolic disorder |
| gptkbp:causedBy |
mutation in IDS gene
|
| gptkbp:complication |
respiratory failure
neurological decline cardiac failure |
| gptkbp:deficiencyCauses |
gptkb:iduronate-2-sulfatase
|
| gptkbp:diagnosedBy |
genetic testing
enzyme assay |
| gptkbp:firstDescribed |
gptkb:Charles_Hunter
1917 |
| gptkbp:hasOrphanetID |
ORPHA:580
|
| https://www.w3.org/2000/01/rdf-schema#label |
Hunter syndrome
|
| gptkbp:ICD-10_code |
E76.1
|
| gptkbp:inheritance |
X-linked recessive
|
| gptkbp:lifeExpectancy |
reduced
|
| gptkbp:notableCase |
Charles Hunter's original patients
|
| gptkbp:OMIM |
309900
|
| gptkbp:prevalence |
1 in 100,000 to 170,000 male births
|
| gptkbp:progression |
progressive
|
| gptkbp:subspecies |
mild form
severe form |
| gptkbp:symptom |
airway obstruction
short stature hearing loss developmental delay joint stiffness cardiac disease coarse facial features inguinal hernia umbilical hernia enlarged liver and spleen |
| gptkbp:treatment |
supportive care
enzyme replacement therapy hematopoietic stem cell transplantation |
| gptkbp:bfsParent |
gptkb:Xq28
gptkb:Lysosomes gptkb:MPS_II |
| gptkbp:bfsLayer |
6
|