Details of Disease

General Information of Disease (ID: DISHAODY)

• Disease Name: Lipoid proteinosis
• Synonyms: lipoid proteinosis of Urbach and Wiethe; Urbach Wiethe disease; hyalinosis cutis Et mucosae; lipoproteinosis; lipoid proteinosis; lipid proteinosis; hyalinosis cutis et mucosae; Urbach-Wiethe disease
• Definition: Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood and, at times, neurological complications.
• Disease Hierarchy:
  DISEOA7S: Lipid metabolism disorder
  DIS4SKIE: Dermis disorder
  DISSCALK: Hereditary skin disorder
  DISHAODY: Lipoid proteinosis
• Disease Identifiers:
  MONDO ID: MONDO_0009530
  MESH ID: D008065
  UMLS CUI: C0023795
  OMIM ID: 247100
  MedGen ID: 6112
  Orphanet ID: 530
  SNOMED CT ID: 38692000

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
LAMC1	OTIG527N	Strong	Altered Expression	[1]
NPC2	OTE9UEJC	Strong	Biomarker	[2]
SFTPC	OTIZJD09	Strong	Genetic Variation	[3]
ECM1	OT1K65VW	Definitive	Autosomal recessive	[4]

References

• [1] Expression of basement membrane zone genes coding for type IV procollagen and laminin by human skin fibroblasts in vitro: elevated alpha 1 (IV) collagen mRNA levels in lipoid proteinosis.J Invest Dermatol. 1988 May;90(5):734-8. doi: 10.1111/1523-1747.ep12560934.
• [2] Niemann-Pick disease type C2 presenting as fatal pulmonary alveolar lipoproteinosis: morphological findings in lung and nervous tissue.Med Sci Monit. 2008 Aug;14(8):CS71-5.
• [3] A nonaggregating surfactant protein C mutant is misdirected to early endosomes and disrupts phospholipid recycling.Traffic. 2011 Sep;12(9):1196-210. doi: 10.1111/j.1600-0854.2011.01223.x. Epub 2011 Jun 28.
• [4] Temporal lobe epilepsy and emotion recognition without amygdala: a case study of Urbach-Wiethe disease and review of the literature. Epileptic Disord. 2014 Dec;16(4):518-27. doi: 10.1684/epd.2014.0696.