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Menkes disease

Disease Summary
Associated Targets (4)
Tbio

4


GARD Rare
Mondo Description Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair.
Uniprot Description An X-linked recessive disorder of copper metabolism characterized by generalized copper deficiency. MNKD results in progressive neurodegeneration and connective-tissue disturbances: focal cerebral and cerebellar degeneration, early growth retardation, peculiar hair, hypopigmentation, cutis laxa, vascular complications and death in early childhood. The clinical features result from the dysfunction of several copper-dependent enzymes. A mild form of the disease has been described, in which cerebellar ataxia and moderate developmental delay predominate.
Mondo Term and Equivalent IDs
MONDO:0010651:  Menkes disease
GARD:0001521: 
MESH:D007706: 
NCIT:C75486: 
Orphanet:565: 
SCTID:59178007: 
UMLS:C0022716: