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Disease Menkes Kinky Hair Syndrome

Name Menkes Kinky Hair Syndrome
Synonyms 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 | Diseases, Copper Transport | Diseases, Kinky Hair | Diseases, Menkes' | Diseases, Steely Hair | Disease, 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' Disease | Menkes' Diseases | Menkes Syndrome | MK | MNK | Steely Hair Disease | Steely Hair Diseases | Steely Hair Syndrome | Steely Hair Syndromes | Syndrome, Menkea | Syndromes, Menkea | Syndromes, Steely Hair | Syndrome, Steely Hair | Transport Disease, Copper | Transport Diseases, Copper | X-Linked Copper Deficiencies | X Linked Copper Deficiency | X-Linked Copper Deficiency
Definition 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)
Categories Genetic disease (inborn) | Metabolic disease | Nervous system disease | Skin disease
MeSH® ID D007706
OMIM® ID 309400
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1. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Central Nervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Menkes Kinky Hair Syndrome Has associated chemicals Has associated genes
2. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Neurologic Manifestations Has associated chemicals Has associated genes Has associated exposure references Neurobehavioral Manifestations Has associated chemicals Has associated genes Has associated exposure references Intellectual Disability Has associated chemicals Has associated genes Has associated exposure references Mental Retardation, X-Linked Has associated chemicals Has associated genes Menkes Kinky Hair Syndrome Has associated chemicals Has associated genes
3. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, X-Linked Has associated chemicals Has associated genes Mental Retardation, X-Linked Has associated chemicals Has associated genes Menkes Kinky Hair Syndrome Has associated chemicals Has associated genes
4. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Heredodegenerative Disorders, Nervous System Has associated chemicals Has associated genes Mental Retardation, X-Linked Has associated chemicals Has associated genes Menkes Kinky Hair Syndrome Has associated chemicals Has associated genes
5. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Menkes Kinky Hair Syndrome Has associated chemicals Has associated genes
6. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Metal Metabolism, Inborn Errors Has associated chemicals Has associated genes Menkes Kinky Hair Syndrome Has associated chemicals Has associated genes
7. DiseasesSkin and Connective Tissue Diseases Has associated chemicals Has associated genes Has associated exposure references Skin Diseases Has associated chemicals Has associated genes Has associated exposure references Hair Diseases Has associated chemicals Has associated genes Menkes Kinky Hair Syndrome Has associated chemicals Has associated genes
8. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Menkes Kinky Hair Syndrome Has associated chemicals Has associated genes
9. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Menkes Kinky Hair Syndrome Has associated chemicals Has associated genes
10. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Metal Metabolism, Inborn Errors Has associated chemicals Has associated genes Menkes Kinky Hair Syndrome Has associated chemicals Has associated genes

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Menkes Kinky Hair Syndrome Has associated chemicals Has associated genes
  Hair defect with photosensitivity and mental retardation