Concept information
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Skin Diseases, Genetic
Preferred term
Lipoid Proteinosis of Urbach and Wiethe
Type
-
mesh:Descriptor
Definition
- 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.
Broader concept
Entry terms
- Hyalinosis Cutis et Mucosae
- Lipoidproteinosis
- Lipoproteinosis
- Urbach-Wiethe Disease
- Urbach-Wiethe Lipoid Proteinosis
- Urbach-Wiethe Syndrome
Allowable Qualifier(s)
- blood (Qualifier)
- cerebrospinal fluid (Qualifier)
- chemically induced (Qualifier)
- classification (Qualifier)
- complications (Qualifier)
- diagnosis (Qualifier)
- diagnostic imaging (Qualifier)
- diet therapy (Qualifier)
- drug therapy (Qualifier)
- economics (Qualifier)
- embryology (Qualifier)
- enzymology (Qualifier)
- epidemiology (Qualifier)
- ethnology (Qualifier)
- etiology (Qualifier)
- genetics (Qualifier)
- history (Qualifier)
- immunology (Qualifier)
- metabolism (Qualifier)
- microbiology (Qualifier)
- mortality (Qualifier)
- nursing (Qualifier)
- parasitology (Qualifier)
- pathology (Qualifier)
- physiopathology (Qualifier)
- prevention & control (Qualifier)
- psychology (Qualifier)
- radiotherapy (Qualifier)
- rehabilitation (Qualifier)
- surgery (Qualifier)
- therapy (Qualifier)
- urine (Qualifier)
- veterinary (Qualifier)
- virology (Qualifier)
In other languages
-
French
-
Hyalinose cutanée et muqueuse
-
Hyalinose cutanéo-muqueuse
-
Hyalinose cutanéomuqueuse
-
Hyalinose d'Urbach-Wiethe
-
Lipoïdo-protéinose d'Urbach-Wiethe
-
Lipoïdoprotéinose
-
Lipoïdoprotéinose d'Urbach-Wiethe
-
Lipoprotéinose d'Urbach-Wiethe
-
Lipoprotéinose de la peau et des muqueuses
-
Maladie d'Urbach-Wiethe
-
Protéinose lipoïde d'Urbach-Wiethe
URI
http://data.loterre.fr/ark:/67375/JVR-DG4QHR6H-5
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