KEGG   DISEASE: Laryngo onycho cutaneous syndrome
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 in ICD-11 classification [BR:br08403]
 14 Diseases of the skin
  Genetic and developmental disorders affecting the skin
   Genetically-determined epidermolysis bullosa
    EC3Z  Epidermolysis bullosa
     H00813  Laryngo onycho cutaneous syndrome
Pathway
hsa04510  Focal adhesion
hsa04512  ECM-receptor interaction
hsa04151  PI3K-Akt signaling pathway
Gene
LAMA3 [HSA:3909] [KO:K06240]
Other DBs
ICD-11: EC3Z
MeSH: C537032
OMIM: 245660
Reference
PMID:20438980
  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
  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
  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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