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Disease Lipoid Proteinosis of Urbach and Wiethe

Name Lipoid Proteinosis of Urbach and Wiethe
Synonyms Hyalinosis Cutis et Mucosae | Lipoidproteinosis | LIPOID PROTEINOSIS | Lipoid Proteinosis, Urbach-Wiethe | Lipoproteinosis | Urbach Wiethe Disease | Urbach-Wiethe Disease | Urbach Wiethe Lipoid Proteinosis | Urbach-Wiethe Lipoid Proteinosis | Urbach-Wiethe Syndrome
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.
Categories Genetic disease (inborn) | Respiratory tract disease
MeSH® ID D008065
OMIM® ID 247100
External Links

Top ↑ Ancestors

1. DiseasesRespiratory Tract Diseases Has associated chemicals Has associated genes Has associated exposure references Respiration Disorders Has associated chemicals Has associated genes Has associated exposure references Hoarseness Has associated chemicals Has associated genes Lipoid Proteinosis of Urbach and Wiethe Has associated chemicals Has associated genes
2. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Skin Diseases, Genetic Has associated chemicals Has associated genes Has associated exposure references Lipoid Proteinosis of Urbach and Wiethe Has associated chemicals Has associated genes

Top ↑ Descendants

None.