Menkes disease

Synonym(s)
- Copper-transporting ATPase subunit alpha deficiency
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- ATP7A / ATPase Copper Transporting Alpha
  Xq21.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- ATPase, Cu++ transporting, alpha polypeptide
Disease group(s)
- 22.1 Disorders of copper metabolism
Child entries
- Occipital horn syndrome
- X-linked distal spinal muscular atrophy type 3