Concept information
Preferred term
Lipoid Proteinosis of Urbach and Wiethe
Type
-
Topical Descriptor
Broader concept
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
-
Finnish
-
lipoidproteinosis
-
Urbachin ja Wiethen lipioidiproteinoosi
-
Swedish
URI
http://www.yso.fi/onto/mesh/D008065
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