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Nutritional and Metabolic Diseases > Metabolic Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Menkes Kinky Hair Syndrome
... > Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Menkes Kinky Hair Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Menkes Kinky Hair Syndrome
Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Menkes Kinky Hair Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Genetic Diseases, X-Linked > Mental Retardation, X-Linked > Menkes Kinky Hair Syndrome
... > Nervous System Diseases > Neurologic Manifestations > Neurobehavioral Manifestations > Intellectual Disability > Mental Retardation, X-Linked > Menkes Kinky Hair Syndrome
... > Pathological Conditions, Signs and Symptoms > Signs and Symptoms > Neurologic Manifestations > Neurobehavioral Manifestations > Intellectual Disability > Mental Retardation, X-Linked > Menkes Kinky Hair Syndrome
Behavior and Behavior Mechanisms > Neurobehavioral Manifestations > Intellectual Disability > Mental Retardation, X-Linked > Menkes Kinky Hair Syndrome
Mental Disorders > Neurodevelopmental Disorders > Intellectual Disability > Mental Retardation, X-Linked > Menkes Kinky Hair Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Heredodegenerative Disorders, Nervous System > Mental Retardation, X-Linked > Menkes Kinky Hair Syndrome
Nervous System Diseases > Neurodegenerative Diseases > Heredodegenerative Disorders, Nervous System > Mental Retardation, X-Linked > Menkes Kinky Hair Syndrome
Skin and Connective Tissue Diseases > Skin Diseases > Hair Diseases > Menkes Kinky Hair Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Metal Metabolism, Inborn Errors > Menkes Kinky Hair Syndrome
Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Metal Metabolism, Inborn Errors > Menkes Kinky Hair Syndrome

Terme préférentiel

Menkes Kinky Hair Syndrome  

Type

  • mesh:Descriptor

Définition

  • 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)

Concept générique

Concepts associés

Synonyme(s)

  • Congenital Hypocupremia
  • Copper Transport Disease
  • Hypocupremia, Congenital
  • Kinky Hair Disease
  • Kinky Hair Syndrome
  • Menkea Syndrome
  • Menkes Disease
  • Menkes' Disease
  • Menkes Syndrome
  • Steely Hair Disease
  • Steely Hair Syndrome
  • X-Linked Copper Deficiency

Qualificatif(s) autorisé(s)

Traductions

  • Maladie de Menkès

    français

  • Syndrome de Menkès
  • Syndrome des cheveux crépus
  • Syndrome des cheveux en fil de fer

URI

http://data.loterre.fr/ark:/67375/JVR-HXQJM1F2-M

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RDF/XML TURTLE JSON-LD Date de création 05/05/1976, dernière modification le 11/07/2019