|
1 / 1
|
DeCS
|
|
 |
|
Descriptor English:
|
|
Lipoid Proteinosis of Urbach and Wiethe
|
|
Descriptor Spanish:
|
|
Proteinosis Lipoidea de Urbach y Wiethe
|
|
Descriptor Portuguese:
|
|
Proteinose Lipóide de Urbach e Wiethe
|
|
Synonyms English:
|
|
Lipoproteinosis
Urbach-Wiethe Disease
|
|
Tree Number:
|
|
C08.618.490.500
C16.320.850.595
C17.800.454
|
|
Definition English:
|
|
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 English:
|
|
2007 (1975)
|
|
Allowable Qualifiers English:
|
|
|
|
Record Number:
|
|
8240
|
|
Unique Identifier:
|
|
D008065
|
Occurrence in VHL:
|
|
|
Similar:
|
|
DeCS SciELO LILACS LIS
|