ACTIONABILITY KNOWLEDGE REPOSITORY
ACTIONABILITY CURATION INTERFACE
Update History
Condition: Hypophosphatasia
Gene/Gene Panel: ALPL
Context: Pediatric
2025/05/21
Released
2.0.0
Morbidity and mortality from hypophosphatasia
(GroupC)
Referral to specialist to consider enzyme replacement therapy
(GroupC)
9CA
Updated report in pediatric context.
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
ALPL
⇔
0018570 HYPOPHOSPHATASIA, INFANTILE; HPPI
Moderate Actionability
Moderate Actionability
ALPL
⇔
0018570 HYPOPHOSPHATASIA, CHILDHOOD; HPPC
Moderate Actionability
Moderate Actionability
ALPL
⇔
0018570 HYPOPHOSPHATASIA, ADULT; HPPA
Moderate Actionability
Moderate Actionability
2021/10/18
Released
(Under revision)
1.1.2
Adverse events (e.g., atypical femoral fractures)
(GroupA)
Avoid bisphosphonates
(GroupA)
4DD
Respiratory failure that can lead to long-term ventilatory support or death (infantile)
(GroupB)
Enzyme Replacement Therapy
(GroupB)
10CC
Rickets/fractures
(GroupA)
Enzyme Replacement Therapy
(GroupA)
7CC
2020/04/16
Released
1.1.2
Adverse events (e.g., atypical femoral fractures)
(GroupA)
Avoid bisphosphonates
(GroupA)
4DD
Respiratory failure that can lead to long-term ventilatory support or death (infantile)
(GroupB)
Enzyme Replacement Therapy
(GroupB)
10CC
Rickets/fractures
(GroupA)
Enzyme Replacement Therapy
(GroupA)
7CC
2020/04/16
Released
(Under revision)
1.1.1
Adverse events (e.g., atypical femoral fractures)
(GroupA)
Avoid bisphosphonates
(GroupA)
4DD
Respiratory failure that can lead to long-term ventilatory support or death (infantile)
(GroupB)
Enzyme Replacement Therapy
(GroupB)
10CC
Rickets/fractures
(GroupA)
Enzyme Replacement Therapy
(GroupA)
7CC
Added MONDO IDs and created scoring groups
2020/04/16
Released
1.1.1
Adverse events (e.g., atypical femoral fractures)
(GroupA)
Avoid bisphosphonates
(GroupA)
4DD
Respiratory failure that can lead to long-term ventilatory support or death (infantile)
(GroupB)
Enzyme Replacement Therapy
(GroupB)
10CC
Rickets/fractures
(GroupA)
Enzyme Replacement Therapy
(GroupA)
7CC
Added MONDO IDs and created scoring groups
2019/10/03
Released
(Under revision)
1.1.0
Adverse events (e.g., atypical femoral fractures)
Avoid bisphosphonates
4DD
Respiratory failure that can lead to long-term ventilatory support or death (infantile)
Enzyme Replacement Therapy
10CC
Rickets/fractures
Enzyme Replacement Therapy
7CC
Internal system migration related to merging adult and pediatric contexts.
2019/04/04
Released
1.1.0
Adverse events (e.g., atypical femoral fractures)
Avoid bisphosphonates
4DD
Respiratory failure that can lead to long-term ventilatory support or death (infantile)
Enzyme Replacement Therapy
10CC
Rickets/fractures
Enzyme Replacement Therapy
7CC
Internal system migration related to merging adult and pediatric contexts.
2018/11/01
Released
1.0.2
Adverse events (e.g., atypical femoral fractures)
Avoid bisphosphonates
4DD
Respiratory failure that can lead to long-term ventilatory support or death (infantile)
Enzyme Replacement Therapy
10CC
Rickets/fractures
Enzyme Replacement Therapy
7CC
Internal system migration related to score text replacement from E to N
2018/10/05
Released
1.0.1
Adverse events (e.g., atypical femoral fractures)
Avoid bisphosphonates
4DD
Respiratory failure that can lead to long-term ventilatory support or death (infantile)
Enzyme Replacement Therapy
10CC
Rickets/fractures
Enzyme Replacement Therapy
7CC
2018/10/05
Released
(Under revision)
1.0.0
Adverse events (e.g., atypical femoral fractures)
Avoid bisphosphonates
4DD
Respiratory failure that can lead to long-term ventilatory support or death
Enzyme Replacement Therapy
10CC
Rickets/fractures
Enzyme Replacement Therapy
7CC
2018/10/05
Released
1.0.0
Adverse events (e.g., atypical femoral fractures)
Avoid bisphosphonates
4DD
Respiratory failure that can lead to long-term ventilatory support or death
Enzyme Replacement Therapy
10CC
Rickets/fractures
Enzyme Replacement Therapy
7CC
2018/09/10
In Preparation
N/A