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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
Copper Transport Disease
Kinky Hair Disease
Menkea Syndrome
Menkes Disease
Menkes' Disease
Steely Hair Disease
X-Linked Copper Deficiency
Congenital Hypocupremias
Disease, Steely Hair
Diseases, Kinky Hair
Diseases, Menkes'
Diseases, Steely Hair
Hair Diseases, Kinky
Hair Diseases, Steely
Hypocupremias, Congenital
Kinky Hair Diseases
Menkea Syndromes
Menkes' Diseases
Steely Hair Diseases
Steely Hair Syndromes
Syndrome, Menkea
Syndrome, Steely Hair
Syndromes, Menkea
Syndromes, Steely Hair
Menkes Syndrome
Steely Hair Syndrome
Kinky Hair Syndrome
Hypocupremia, Congenital
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Tree Number:
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C10.228.140.163.100.540
C10.597.606.643.455.687
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) |
See Related English:
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Ceruloplasmin
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 CID-10 SciELO LILACS LIS
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