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gptkbp:instanceOf
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gptkb:disease
|
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gptkbp:abbreviation
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gptkb:DM1
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|
gptkbp:affects
|
endocrine system
muscular system
cardiac system
|
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gptkbp:associatedWith
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gptkb:myotonic_dystrophy_type_2
|
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gptkbp:category
|
genetic disorder
rare disease
muscular dystrophy
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gptkbp:causedBy
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mutation in DMPK gene
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gptkbp:containsGene
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gptkb:DMPK
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gptkbp:diagnosedBy
|
clinical evaluation
genetic testing
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gptkbp:firstDescribed
|
gptkb:Hans_Gustav_Wilhelm_Steinert
1909
|
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gptkbp:fullName
|
Myotonic dystrophy type 1
|
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gptkbp:geneticMutationType
|
CTG trinucleotide repeat expansion
|
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gptkbp:hasOrphanetID
|
ORPHA:273
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
DM1
|
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gptkbp:ICD-10_code
|
G71.1
|
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gptkbp:inheritance
|
autosomal dominant
|
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gptkbp:OMIM
|
160900
|
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gptkbp:onset
|
congenital
adulthood
|
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gptkbp:parent
|
gptkb:myotonic_dystrophy
|
|
gptkbp:prevalence
|
1 in 8,000 worldwide
|
|
gptkbp:symptom
|
gptkb:cataracts
gptkb:myotonia
muscle weakness
insulin resistance
daytime sleepiness
testicular atrophy
cardiac conduction defects
frontal balding
|
|
gptkbp:synonym
|
Steinert disease
|
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gptkbp:treatment
|
physical therapy
symptomatic management
cardiac monitoring
pacemaker (if needed)
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gptkbp:bfsParent
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gptkb:ado-trastuzumab_emtansine
|
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gptkbp:bfsLayer
|
7
|