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Task D-010 · Type D — Disease → mechanism
How does ATP7A dysfunction lead to the neurodegeneration and connective tissue abnormalities seen in Menkes disease?
Difficulty
medium
Rarity stratum
sparse
Evidence type
primary_research + review
MONDO ID
MONDO:0010651
Curator notes
None material — impaired copper transport leading to copper-dependent-enzyme deficiency is consistently described as the mechanism across gold documents.
Generation outcome
Abstained
No
Abstention correct
Yes
Gold in retrieved
1.00
Generation cost
$0.000418
Claims
4
Supported
4
Contradicted
0
Unverifiable
0
Gold documents (2)
- Menkes disease.
- Early clinical signs and treatment of Menkes disease.
Retrieved documents (6)
- Intravenous AAV9-ATP7A plus subcutaneous copper histidinate optimizes outcomes in a lethal Menkes disease mouse model.pubmed:40880469
- Almost misdiagnosed Menkes disease: A case report.pubmed:35464712
- Neuroimaging in Menkes Disease.pubmed:29675083
- Menkes disease.pubmed:19888294
- Menkes disease and response to copper histidine: An Indian case series.pubmed:28298846
- Early clinical signs and treatment of Menkes disease.pubmed:35242581gold
Generated claims (4)
supportedconfidence 1.00
Menkes disease is caused by mutations in the ATP7A gene, leading to copper metabolism disorders.
pubmed:19888294pubmed:29675083pubmed:35242581pubmed:40880469pubmed:28298846pubmed:35464712
supportedconfidence 1.00
ATP7A is an energy-dependent transmembrane protein involved in copper delivery to secreted enzymes and exporting surplus copper from cells.
pubmed:19888294
supportedconfidence 1.00
The dysfunction of ATP7A results in copper deficiency, leading to severe neurological and connective tissue disorders.
pubmed:35242581pubmed:28298846
supportedconfidence 1.00
Neurodegeneration and connective tissue abnormalities are major manifestations of Menkes disease due to the absence of functional ATP7A.
pubmed:19888294pubmed:29675083pubmed:35242581pubmed:40880469pubmed:28298846pubmed:35464712