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Menkes Kinky Hair Syndrome MeSH Descriptor Data 2022


MeSH Heading
Menkes Kinky Hair Syndrome
Tree Number(s)
C10.228.140.163.100.540
C10.597.606.360.455.687
C16.320.322.500.687
C16.320.400.525.687
C16.320.565.189.540
C16.320.565.618.590
C17.800.329.968
C18.452.132.100.540
C18.452.648.189.540
C18.452.648.618.590
Unique ID
D007706
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D007706
Scope Note
An inherited disorder of copper metabolism transmitted as an X-linked trait and characterized by the infantile onset of HYPOTHERMIA, feeding difficulties, hypotonia, SEIZURES, bony deformities, pili torti (twisted hair), and severely impaired intellectual development. Defective copper transport across plasma and endoplasmic reticulum membranes results in copper being unavailable for the synthesis of several copper containing enzymes, including PROTEIN-LYSINE 6-OXIDASE; CERULOPLASMIN; and SUPEROXIDE DISMUTASE. Pathologic changes include defects in arterial elastin, neuronal loss, and gliosis. (From Menkes, Textbook of Child Neurology, 5th ed, p125)
Entry Term(s)
Congenital Hypocupremia
Copper Transport Disease
Hypocupremia, Congenital
Kinky Hair Disease
Kinky Hair Syndrome
Menkea Syndrome
Menkes Disease
Menkes Syndrome
Menkes' Disease
Steely Hair Disease
Steely Hair Syndrome
X-Linked Copper Deficiency
Previous Indexing
Brain Diseases (1966-1976)
See Also
Ceruloplasmin
Copper-Transporting ATPases
Protein-Lysine 6-Oxidase
Superoxide Dismutase
Public MeSH Note
2000; see KINKY HAIR SYNDROME 1991-1999; see BRAIN DISEASES, METABOLIC 1977-1990
History Note
2000(1977)
Date Established
1991/01/01
Date of Entry
1976/05/05
Revision Date
2019/07/11
Menkes Kinky Hair Syndrome Preferred
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