Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease |
| gptkbp:affects |
gptkb:skin
mucous membranes larynx brain (amygdala) |
| gptkbp:alsoKnownAs |
gptkb:Urbach–Wiethe_disease
|
| gptkbp:diagnosedBy |
genetic testing
clinical examination |
| gptkbp:firstDescribed |
gptkb:Camillo_Wiethe
gptkb:Erich_Urbach 1929 |
| https://www.w3.org/2000/01/rdf-schema#label |
lipoid proteinosis
|
| gptkbp:ICD-10_code |
E88.1
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:ECM1_gene
|
| gptkbp:OMIM |
247100
|
| gptkbp:prevalence |
very rare
|
| gptkbp:symptom |
seizures
hoarseness scarring skin thickening neuropsychiatric symptoms beaded eyelid papules |
| gptkbp:treatment |
no cure
symptomatic |
| gptkbp:bfsParent |
gptkb:Urbach–Wiethe_disease
|
| gptkbp:bfsLayer |
6
|