Skip to main content

Search from vocabulary

Content language

Concept information

Preferred term

Lipoid Proteinosis of Urbach and Wiethe  

Type

  • Topical Descriptor

Entry terms

  • Hyalinosis Cutis et Mucosae
  • Lipoidproteinosis
  • Lipoid Proteinosis, Urbach-Wiethe
  • Lipoproteinosis
  • Urbach Wiethe Disease
  • Urbach-Wiethe Disease
  • Urbach Wiethe Lipoid Proteinosis
  • Urbach-Wiethe Lipoid Proteinosis
  • Urbach-Wiethe Syndrome

Scope note

  • An autosomal recessive disorder characterized by glassy degenerative thickening (hyalinosis) of SKIN; MUCOSA; and certain VISCERA. This disorder is caused by mutation in the extracellular matrix protein 1 gene (ECM1). Clinical features include hoarseness and skin eruption due to widespread deposition of HYALIN.

History note

  • 2007 (1975)

In other languages

URI

http://www.yso.fi/onto/mesh/D008065

Download this concept:

RDF/XML TURTLE JSON-LD Created 1/1/99, last modified 6/25/24