Lipoid proteinosis (Urbach-Wiethe syndrome). 1979

V Feiler-Ofry, and A Lewy, and L Regenbogen, and D Hanau, and M B Katznelson, and V Godel

A Jewish-Iranian family suffered from lipoid proteinosis. The 8 affected siblings were from consanguineous matings and presented a wide range of phenotypic expressions. Minimal manifestations in 2 heterozygote carriers and the possibility of autosomal recessive inheritance are discussed.

UI MeSH Term Description Entries
D008064 Lipidoses Conditions characterized by abnormal lipid deposition due to disturbance in lipid metabolism, such as hereditary diseases involving lysosomal enzymes required for lipid breakdown. They are classified either by the enzyme defect or by the type of lipid involved. Lipidosis,Lipoidosis
D008065 Lipoid Proteinosis of Urbach and Wiethe 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. Lipoproteinosis,Urbach-Wiethe Disease,Hyalinosis Cutis et Mucosae,Lipoidproteinosis,Urbach-Wiethe Lipoid Proteinosis,Urbach-Wiethe Syndrome,Lipoid Proteinosis, Urbach-Wiethe,Urbach Wiethe Disease,Urbach Wiethe Lipoid Proteinosis
D008297 Male Males
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D010641 Phenotype The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. Phenotypes
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D005141 Eyelid Diseases Diseases involving the EYELIDS. Disease, Eyelid,Diseases, Eyelid,Eyelid Disease
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

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