Infantile hypophosphatasia is an autosomal recessive disorder caused by mutations of the ALPL gene. Of all hypophosphatasias this is the most severe form that manifests in early childhood and is lethal in about 50% of cases.
For therapy Strensiq® (asfotase alfa) is available.
Hypophosphatasia | ||||
Adult hypophosphatasia | ||||
Childhood hypophosphatasia | ||||
Infantile hypophosphatasia | ||||
ALPL | ||||
Odontohypophosphatasia | ||||
1. |
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8. |
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9. |
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11. |
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12. |
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13. |
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14. |
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15. |
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16. |
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18. |
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19. |
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20. |
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21. |
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22. |
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23. |
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24. |
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25. |
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26. |
Greenberg CR et al. (1993) A homoallelic Gly317-->Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian mennonites. |
27. |
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28. |
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29. |
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30. |
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31. |
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32. |
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33. |
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34. |
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35. |
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36. |
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37. |
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39. |
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40. |
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41. |
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42. |
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43. |
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44. |
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45. |
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46. |
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47. |
OMIM.ORG article Omim 241500 |
48. |
Orphanet article Orphanet ID 247651 |