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DeCS
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Descriptor English:
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Menkes Kinky Hair Syndrome
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Descriptor Spanish:
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Síndrome del Pelo Ensortijado
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Descriptor Portuguese:
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Síndrome dos Cabelos Torcidos
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Synonyms English:
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Congenital Hypocupremia
Congenital Hypocupremias
Copper Deficiencies, X-Linked
Copper Deficiency, X-Linked
Copper Transport Disease
Copper Transport Diseases
Deficiencies, X-Linked Copper
Deficiency, X-Linked Copper
Disease, Copper Transport
Disease, Steely Hair
Diseases, Copper Transport
Diseases, Kinky Hair
Diseases, Menkes'
Diseases, Steely Hair
Hair Diseases, Kinky
Hair Diseases, Steely
Hypocupremia, Congenital
Hypocupremias, Congenital
Kinky Hair Disease
Kinky Hair Diseases
Kinky Hair Syndrome
Menkea Syndrome
Menkea Syndromes
Menkes Disease
Menkes Syndrome
Menkes' Disease
Menkes' Diseases
Steely Hair Disease
Steely Hair Diseases
Steely Hair Syndrome
Steely Hair Syndromes
Syndrome, Menkea
Syndrome, Steely Hair
Syndromes, Menkea
Syndromes, Steely Hair
Transport Disease, Copper
Transport Diseases, Copper
X Linked Copper Deficiency
X-Linked Copper Deficiencies
X-Linked Copper Deficiency
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Tree Number:
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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
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Definition English:
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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) |
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See Related English:
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Ceruloplasmin
Copper-transporting ATPases
Protein-Lysine 6-Oxidase
Superoxide Dismutase
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History Note English:
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2000(1977)
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Allowable Qualifiers English:
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Record Number:
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7882
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Unique Identifier:
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D007706
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Occurrence in VHL:
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Similar:
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DeCS
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