Statements (40)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease autosomal recessive disease |
| gptkbp:affects |
gptkb:skin
central nervous system mucous membranes children and adults larynx |
| gptkbp:alsoKnownAs |
gptkb:hyalinosis_cutis_et_mucosae
gptkb:lipoid_proteinosis |
| gptkbp:characteristic |
bilateral amygdala calcification
hyaline material deposition |
| gptkbp:diagnosedBy |
genetic testing
clinical examination |
| gptkbp:firstDescribed |
gptkb:Camillo_Wiethe
gptkb:Erich_Urbach 1929 |
| gptkbp:frequency |
less than 300 cases reported worldwide
|
| https://www.w3.org/2000/01/rdf-schema#label |
Urbach–Wiethe disease
|
| 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 |
| gptkbp:bfsParent |
gptkb:S.M.
|
| gptkbp:bfsLayer |
5
|