Task B-010 · Type B — Disease → gene association

Which gene is mutated in Menkes disease and what is its normal function?

Difficulty

easy

Rarity stratum

sparse

Evidence type

primary_research + review

MONDO ID

MONDO:0010651

Curator notes

None material — ATP7A copper-transporting P1B-type ATPase association is uniform across gold documents.

Generation outcome

Abstained

Abstention correct

Yes

Gold in retrieved

2.00

Generation cost

$0.000306

Claims

Supported

Contradicted

Unverifiable

Menkes disease.
pubmed:17989919retrieved ✓source
Neuroimaging in Menkes Disease.
pubmed:29675083retrieved ✓source
Early clinical signs and treatment of Menkes disease.
pubmed:35242581not retrievedsource

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:29675083gold
Menkes disease.
pubmed:17989919gold
Menkes disease.
pubmed:19888294
Menkes disease and response to copper histidine: An Indian case series.
pubmed:28298846

supportedconfidence 1.00

The gene mutated in Menkes disease is ATP7A.

pubmed:35464712pubmed:29675083pubmed:17989919pubmed:19888294pubmed:28298846pubmed:40880469

supportedconfidence 1.00

The normal function of ATP7A is to transport copper and maintain intracellular copper levels.

pubmed:17989919pubmed:19888294