ACTIONABILITY KNOWLEDGE REPOSITORY ACTIONABILITY CURATION INTERFACE
Update History
Condition: Adrenoleukodystrophy
Gene/Gene Panel: ABCD1
Context: Adult
Date
Status
Release
Outcomes-Interventions
Notes
2024/04/15
Released
2.0.0
A
Morbidity and mortality due to adrenal insufficiency (males only) (GroupA)
Evaluation and management by specialist to guide hormone replacement (GroupA) 10CB
Morbidity and mortality due to cerebral adrenoleukodystrophy (males only) (GroupA)
Evaluation and surveillance by specialist to guide initiation of hematopoietic cell transplantation or gene therapy (GroupA) 7DC
This report has been updated for the adult context.
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
ABCD1 ⇔ 0018544 ADRENOLEUKODYSTROPHY; ALD
Strong Actionability
Strong Actionability
2024/02/19
Released (Under revision)
1.2.2
A
Adrenal insufficiency (males only) (GroupA)
Monitoring adrenal hormones with replacement as needed (GroupA) 9CC
Neurological/Cognitive decline (GroupA)
Neurological surveillance to plan initiation of HCT (GroupA) 11CC
Internal system migration associated with MONDO name addition.
2022/02/09
Released
1.2.2
A
Adrenal insufficiency (males only) (GroupA)
Monitoring adrenal hormones with replacement as needed (GroupA) 9CC
Neurological/Cognitive decline (GroupA)
Neurological surveillance to plan initiation of HCT (GroupA) 11CC
Internal system migration associated with MONDO name addition.
2022/02/09
Released (Under revision)
1.2.1
A
Adrenal insufficiency (males only) (GroupA)
Monitoring adrenal hormones with replacement as needed (GroupA) 9CC
Neurological/Cognitive decline (GroupA)
Neurological surveillance to plan initiation of HCT (GroupA) 11CC
MONDO added
2020/08/19
Released
1.2.1
A
Adrenal insufficiency (males only) (GroupA)
Monitoring adrenal hormones with replacement as needed (GroupA) 9CC
Neurological/Cognitive decline (GroupA)
Neurological surveillance to plan initiation of HCT (GroupA) 11CC
MONDO added
2020/08/19
Released (Under revision)
1.2.0
A
Adrenal insufficiency (males only) (GroupA)
Monitoring adrenal hormones with replacement as needed (GroupA) 9CC
Neurological/Cognitive decline (GroupA)
Neurological surveillance to plan initiation of HCT (GroupA) 11CC
Internal system migration associated with Gene-Disease scoring groups upgrades.
2019/10/03
Released
1.2.0
A
Adrenal insufficiency (males only) (GroupA)
Monitoring adrenal hormones with replacement as needed (GroupA) 9CC
Neurological/Cognitive decline (GroupA)
Neurological surveillance to plan initiation of HCT (GroupA) 11CC
Internal system migration associated with Gene-Disease scoring groups upgrades.
2019/04/04
Released
1.1.0
A
Adrenal insufficiency (males only)
Monitoring adrenal hormones with replacement as needed 9CC
Neurological/Cognitive decline
Neurological surveillance to plan initiation of HCT 11CC
Internal system migration related to merging adult and pediatric contexts.
2018/11/01
Released
1.0.3
A
Adrenal insufficiency (males only)
Monitoring adrenal hormones with replacement as needed 9CC
Neurological/Cognitive decline
Neurological surveillance to plan initiation of HCT 11CC
Internal system migration related to score text replacement from E to N
2018/03/07
Released
1.0.2
A
Adrenal insufficiency (males only)
Monitoring adrenal hormones with replacement as needed 9CC
Neurological/Cognitive decline
Neurological surveillance to plan initiation of HCT 11CC
2018/03/07
Released (Under revision)
1.0.1
A
Adrenal insufficiency (males only)
Monitoring adrenal hormones with replacement as needed 9CC
Neurological/Cognitive decline
Neurological surveillance to plan initiation of HCT 11CC
2018/01/11
Released
1.0.1
A
Adrenal insufficiency (males only)
Monitoring adrenal hormones with replacement as needed 9CC
Neurological/Cognitive decline
Neurological surveillance to plan initiation of HCT 11CC
2017/10/12
Released
1.0.0
A
Adrenal insufficiency (males only)
Monitoring adrenal hormones with replacement as needed 9CC
Neurological/Cognitive decline
Neurological surveillance to plan initiation of HCT 11CC
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