KEGG   DISEASE: Laryngo onycho cutaneous syndromeHelp
Entry
H00813                      Disease                                

Name
Laryngo onycho cutaneous syndrome
Description
Laryngo onycho cutaneous syndrome is an epithelial disorder characterized by cutaneous erosions at elbows, knees and digits and formation of granulation tissue of the larynx and conjunctiva. The multisystem disorder is caused by deficient laminin synthesis in epithelial basement membrane.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of skin
   H00813  Laryngo onycho cutaneous syndrome
BRITE hierarchy
Pathway
hsa04510  Focal adhesion
hsa04512  ECM-receptor interaction
Gene
LAMA3 [HSA:3909] [KO:K06240]
Other DBs
ICD-10: Q81.8
MeSH: C537032
OMIM: 245660
Reference
PMID:20438980 (description, gene)
  Authors
Kadyan A, Aralikatti A, Shah S, Jewell R, Paul L, Darling J, Wood M, Gooi J, Morrell AJ, Newton Bishop JA, Marr JE
  Title
Laryngo-onycho-cutaneous syndrome.
  Journal
Ophthalmology 117:1056-1056.e2 (2010)
DOI:10.1016/j.ophtha.2009.11.019
Reference
PMID:17542886 (description, gene)
  Authors
Kim CC, Liang MG, Pfendner E, Kimonis VE
  Title
What syndrome is this? Laryngo-onycho-cutaneous syndrome.
  Journal
Pediatr Dermatol 24:306-8 (2007)
DOI:10.1111/j.1525-1470.2007.00408.x
Reference
PMID:8185366 (description)
  Authors
Phillips RJ, Atherton DJ, Gibbs ML, Strobel S, Lake BD
  Title
Laryngo-onycho-cutaneous syndrome: an inherited epithelial defect.
  Journal
Arch Dis Child 70:319-26 (1994)
DOI:10.1136/adc.70.4.319

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