|
gptkbp:instanceOf
|
genetic disorder
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|
gptkbp:affects
|
gptkb:skin
gptkb:skeletal_muscle
gptkb:nervous_system
bones
hair
arteries
copper levels in the body
|
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gptkbp:alsoKnownAs
|
gptkb:Menkes_syndrome
kinky hair disease
|
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gptkbp:category
|
neurodegenerative disease
rare disease
metabolic disorder
X-linked recessive disorder
|
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gptkbp:diagnosedBy
|
genetic testing
serum copper and ceruloplasmin levels
|
|
gptkbp:firstDescribed
|
gptkb:John_Hans_Menkes
1962
|
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gptkbp:frequency
|
rare
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Menkes disease
|
|
gptkbp:ICD-10_code
|
E83.0
|
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gptkbp:inheritance
|
X-linked recessive
|
|
gptkbp:locatedOnChromosome
|
Xq21.1
|
|
gptkbp:mutationAssociatedWith
|
gptkb:ATP7A_gene
|
|
gptkbp:namedAfter
|
gptkb:John_Hans_Menkes
|
|
gptkbp:OMIM
|
309400
|
|
gptkbp:onset
|
infancy
|
|
gptkbp:prognosis
|
poor
|
|
gptkbp:symptom
|
gptkb:bone
hypotonia
intellectual disability
seizures
failure to thrive
developmental delay
arterial tortuosity
brittle hair
sagging facial features
|
|
gptkbp:treatment
|
copper histidinate injections
|
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gptkbp:bfsParent
|
gptkb:Copper_toxicosis
gptkb:SLC31A1
|
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gptkbp:bfsLayer
|
7
|