Menkes Kinky Hair Syndrome
"Menkes Kinky Hair Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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)
| Descriptor ID |
D007706
|
| MeSH Number(s) |
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
|
| Concept/Terms |
Menkes Kinky Hair Syndrome- Menkes Kinky Hair Syndrome
- Menkes Syndrome
- Steely Hair Syndrome
- Steely Hair Syndromes
- Syndrome, Steely Hair
- Syndromes, Steely Hair
- Hypocupremia, Congenital
- Congenital Hypocupremias
- Hypocupremias, Congenital
- Congenital Hypocupremia
- X-Linked Copper Deficiency
- Copper Deficiencies, X-Linked
- Copper Deficiency, X-Linked
- Deficiencies, X-Linked Copper
- Deficiency, X-Linked Copper
- X Linked Copper Deficiency
- X-Linked Copper Deficiencies
- Menkes Disease
- Menkes' Disease
- Diseases, Menkes'
- Menkes' Diseases
- Steely Hair Disease
- Disease, Steely Hair
- Diseases, Steely Hair
- Hair Diseases, Steely
- Steely Hair Diseases
- Menkea Syndrome
- Menkea Syndromes
- Syndrome, Menkea
- Syndromes, Menkea
- Copper Transport Disease
- Copper Transport Diseases
- Disease, Copper Transport
- Diseases, Copper Transport
- Transport Disease, Copper
- Transport Diseases, Copper
- Kinky Hair Syndrome
- Kinky Hair Disease
- Diseases, Kinky Hair
- Hair Diseases, Kinky
- Kinky Hair Diseases
|
Below are MeSH descriptors whose meaning is more general than "Menkes Kinky Hair Syndrome".
- Diseases [C]
- Nervous System Diseases [C10]
- Central Nervous System Diseases [C10.228]
- Brain Diseases [C10.228.140]
- Brain Diseases, Metabolic [C10.228.140.163]
- Brain Diseases, Metabolic, Inborn [C10.228.140.163.100]
- Menkes Kinky Hair Syndrome [C10.228.140.163.100.540]
- Neurologic Manifestations [C10.597]
- Neurobehavioral Manifestations [C10.597.606]
- Intellectual Disability [C10.597.606.643]
- Mental Retardation, X-Linked [C10.597.606.643.455]
- Menkes Kinky Hair Syndrome [C10.597.606.643.455.687]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
- Genetic Diseases, X-Linked [C16.320.322]
- Mental Retardation, X-Linked [C16.320.322.500]
- Menkes Kinky Hair Syndrome [C16.320.322.500.687]
- Heredodegenerative Disorders, Nervous System [C16.320.400]
- Mental Retardation, X-Linked [C16.320.400.525]
- Menkes Kinky Hair Syndrome [C16.320.400.525.687]
- Metabolism, Inborn Errors [C16.320.565]
- Brain Diseases, Metabolic, Inborn [C16.320.565.189]
- Menkes Kinky Hair Syndrome [C16.320.565.189.540]
- Metal Metabolism, Inborn Errors [C16.320.565.618]
- Menkes Kinky Hair Syndrome [C16.320.565.618.590]
- Skin and Connective Tissue Diseases [C17]
- Skin Diseases [C17.800]
- Hair Diseases [C17.800.329]
- Menkes Kinky Hair Syndrome [C17.800.329.968]
- Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
- Brain Diseases, Metabolic [C18.452.132]
- Brain Diseases, Metabolic, Inborn [C18.452.132.100]
- Menkes Kinky Hair Syndrome [C18.452.132.100.540]
- Metabolism, Inborn Errors [C18.452.648]
- Brain Diseases, Metabolic, Inborn [C18.452.648.189]
- Menkes Kinky Hair Syndrome [C18.452.648.189.540]
- Metal Metabolism, Inborn Errors [C18.452.648.618]
- Menkes Kinky Hair Syndrome [C18.452.648.618.590]
Below are MeSH descriptors whose meaning is more specific than "Menkes Kinky Hair Syndrome".
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Below are the most recent publications written about "Menkes Kinky Hair Syndrome" by people in Profiles.