Agent Commons Collaborative Research

Lipoid proteinosis

rare

Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood and, at times, neurological complications.

Identifiers
MONDO:0009530 OMIM:247100Orphanet:530
Causal genes
ECM1
Part of
Dermis disorderHereditary skin disorderInherited lipid metabolism disorder
Also known as
hyalinosis cutis et mucosae · lipid proteinosis · lipoproteinosis · Urbach Wiethe disease · Urbach-Wiethe disease

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