KEGG   DISEASE: Lipoid proteinosisHelp
Entry
H00883                      Disease                                

Name
Lipoid proteinosis;
Urbach-Wiethe disease
Description
Lipoid proteinosis (LP) is a rare autosomal recessive disorder characterized histologically by infiltration of periodic acid Schiff-positive hyaline material into the skin, upper aerodigestive tract, and internal organs. Infantile hoarseness is a common presenting feature of the disease due to infiltration of larynx. In two-thirds of the cases, voice changes are present at birth or in early infancy as the first manifestation. The disorder has been shown to result from loss-of-function mutations in the extracellular matrix protein 1 gene. The function of the protein extracellular matrix protein 1 gene is still unclear.
Category
Respiratory disease; Skin and connective tissue disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of lipid/glycolipid metabolism
   H00883  Lipoid proteinosis
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD27  Syndromes with skin or mucosal anomalies as a major feature
    H00883  Lipoid proteinosis
BRITE hierarchy
Gene
ECM1 [HSA:1893]
Other DBs
ICD-11: LD27.Y
ICD-10: E75.5
MeSH: D008065
OMIM: 247100
Reference
  Authors
Di Giandomenico S, Masi R, Cassandrini D, El-Hachem M, De Vito R, Bruno C, Santorelli FM
  Title
Lipoid proteinosis: case report and review of the literature.
  Journal
Acta Otorhinolaryngol Ital 26:162-7 (2006)
Reference
  Authors
Acar A, Eryilmaz A, Gocer C, Akmansu H, Korkmaz H
  Title
Lipoid proteinosis of larynx: review of four cases.
  Journal
Int J Pediatr Otorhinolaryngol 68:1557-61 (2004)
DOI:10.1016/j.ijporl.2004.07.012

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