Catalog
Menkes disease
No MMS code
Link to WHO Definition
Menkes disease – http://id.who.int/icd/entity/986728180
Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterised by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair. MD is an X-linked disease primarily affecting males while females are usually unaffected carriers.
Parents
- 5C64.0 Disorders of copper metabolism
- 8D8B Disorders affecting autonomic synaptic neurotransmission
- Syndromic conditions with disorders of intellectual development as a relevant clinical feature
- EC21.1 Genetic syndromes with abnormalities of the hair shaft
- LD2E Syndromes with structural anomalies due to inborn errors of metabolism