Preferred Label : Lipoid proteinosis of urbach and wiethe;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Urbach-wiethe disease; Hyalinosis cutis et mucosae; Lipoid proteinosis;
Description : Lipoid proteinosis of Urbach and Wiethe is a rare autosomal recessive disorder typified
by generalized thickening of skin, mucosae, and certain viscera. Classic features
include beaded eyelid papules and laryngeal infiltration leading to hoarseness. The
disorder is clinically heterogeneous, with affected individuals displaying differing
degrees of skin scarring and infiltration, variable signs of hoarseness and respiratory
distress, and in some cases neurologic abnormalities such as temporal lobe epilepsy.
Histologically, there is widespread deposition of hyaline (glycoprotein) material
and disruption/reduplication of basement membrane (summary by Hamada et al., 2002
and Hamada et al., 2003).;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the extracellular matrix protein 1 gene (ECM1, 602201.0001);
Prefixed ID : #247100;
Origin ID : 247100;
UMLS CUI : C0023795;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
