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Lipoid Proteinosis of Urbach and Wiethe MeSH Descriptor Data 2022


MeSH Heading
Lipoid Proteinosis of Urbach and Wiethe
Tree Number(s)
C08.618.490.500
C16.320.850.595
Unique ID
D008065
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D008065
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.
Entry Version
LIPOID PROTEINOSIS URBACH AND WIETHE
Entry Term(s)
Hyalinosis Cutis et Mucosae
Lipoidproteinosis
Lipoproteinosis
Urbach-Wiethe Disease
Urbach-Wiethe Lipoid Proteinosis
Urbach-Wiethe Syndrome
See Also
Hyalinosis, Systemic
Public MeSH Note
2007; see LIPOIDPROTEINOSIS 1991-2006, see LIPOIDOSIS 1975-1990
History Note
2007 (1975)
Date Established
1991/01/01
Date of Entry
1999/01/01
Revision Date
2013/07/09
Lipoid Proteinosis of Urbach and Wiethe Preferred
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