Statements (48)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
genetic disorder |
| gptkbp:affects |
gptkb:bone
adults children teeth |
| gptkbp:cause |
gptkb:hypercalcemia
short stature joint pain dental caries seizures failure to thrive respiratory complications delayed motor development early tooth loss |
| gptkbp:characterizedBy |
gptkb:osteomalacia
gptkb:rickets premature loss of teeth impaired bone mineralization low alkaline phosphatase activity |
| gptkbp:containsGene |
gptkb:ALPL
|
| gptkbp:diagnosedBy |
genetic testing
serum alkaline phosphatase measurement |
| gptkbp:firstDescribed |
1948
|
| gptkbp:hasOrphanetID |
ORPHA:167
|
| https://www.w3.org/2000/01/rdf-schema#label |
Hypophosphatasia
|
| gptkbp:ICD-10_code |
E83.3
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive variable expressivity incomplete penetrance |
| gptkbp:mutationAssociatedWith |
ALPL gene
|
| gptkbp:namedFor |
John C. Rathbun
|
| gptkbp:OMIM |
241500
|
| gptkbp:prevalence |
rare
|
| gptkbp:subspecies |
adult hypophosphatasia
childhood hypophosphatasia infantile hypophosphatasia odonto-hypophosphatasia perinatal hypophosphatasia |
| gptkbp:symptom |
fractures
muscle weakness bone pain craniosynostosis |
| gptkbp:treatment |
gptkb:asfotase_alfa
enzyme replacement therapy |
| gptkbp:bfsParent |
gptkb:HPP
|
| gptkbp:bfsLayer |
8
|