Mucopolysaccharidosis type I
GPTKB entity
Properties (67)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
Mucopolysaccharidosis
|
| gptkbp:causedBy |
deficiency of alpha-L-iduronidase
|
| gptkbp:clinicalTrials |
vision problems
hearing loss joint pain intellectual disability reduced range of motion sleep apnea respiratory issues carpal tunnel syndrome enlarged liver enlarged spleen umbilical hernia recurrent infections short stature scoliosis dental issues gait abnormalities joint stiffness abnormal bone density thickened skin kyphosis skin thickening facial asymmetry abnormal blood pressure abnormal calcium levels abnormal cholesterol levels abnormal enzyme levels abnormal facial features abnormal glucose levels abnormal heart size abnormal hormone levels abnormal kidney function abnormal liver function abnormal lung function abnormal magnesium levels abnormal phosphate levels abnormal protein levels abnormal uric acid levels abnormal vitamin levels enlarged head large hands and feet protruding abdomen thickened cornea thickened lips |
| gptkbp:demographics |
1 in 100,000 births
|
| gptkbp:diseaseResistance |
genetic testing
urine test for glycosaminoglycans |
| gptkbp:firstDescribedBy |
1960s
|
| gptkbp:geneticDiversity |
IDUA
|
| https://www.w3.org/2000/01/rdf-schema#label |
Mucopolysaccharidosis type I
|
| gptkbp:impact |
enzyme replacement therapy
hematopoietic stem cell transplantation |
| gptkbp:inheritsFrom |
infancy
|
| gptkbp:legalEvent |
reduced life expectancy
|
| gptkbp:nobleFamily |
autosomal recessive
|
| gptkbp:relatedPatent |
gptkb:Mucopolysaccharidosis_type_II
gptkb:Mucopolysaccharidosis_type_IV gptkb:Mucopolysaccharidosis_type_III Mucopolysaccharidosis type VI |
| gptkbp:symptoms |
skeletal abnormalities
coarse facial features developmental delay heart valve abnormalities hepatosplenomegaly |
| gptkbp:threats |
variable severity
|
| gptkbp:type |
lysosomal storage disease
|