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gptkbp:instanceOf
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gptkb:genetic_disorder
gptkb:autosomal_recessive_disease
gptkb:rare_disease
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gptkbp:affects
|
gptkb:skin
central nervous system
mucous membranes
children and adults
larynx
|
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gptkbp:alsoKnownAs
|
gptkb:hyalinosis_cutis_et_mucosae
gptkb:lipoid_proteinosis
|
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gptkbp:characteristic
|
bilateral amygdala calcification
hyaline material deposition
|
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gptkbp:diagnosedBy
|
genetic testing
clinical examination
|
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gptkbp:firstDescribed
|
gptkb:Camillo_Wiethe
gptkb:Erich_Urbach
1929
|
|
gptkbp:frequency
|
less than 300 cases reported worldwide
|
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gptkbp:ICD-10_code
|
E88.1
|
|
gptkbp:inheritance
|
autosomal recessive
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_1q21
|
|
gptkbp:MeSH_ID
|
D007002
|
|
gptkbp:mutationAssociatedWith
|
gptkb:ECM1_gene
|
|
gptkbp:notableCase
|
gptkb:patient_SM
|
|
gptkbp:notableFor
|
study of emotion and fear
|
|
gptkbp:OMIM
|
247100
|
|
gptkbp:prevalence
|
extremely rare
|
|
gptkbp:symptom
|
epilepsy
hoarseness
scarring
skin thickening
neuropsychiatric symptoms
beaded eyelid papules
calcification of the amygdala
|
|
gptkbp:treatment
|
speech therapy
surgical intervention
symptomatic management
|
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gptkbp:bfsParent
|
gptkb:S.M.
|
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gptkbp:bfsLayer
|
7
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Urbach–Wiethe disease
|