| H00813 | |
| H number | H00813 |
| 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 |
| Network | - |
| Gene | LAMA3 [HSA:3909] [KO:K06240] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: EC3Z ICD-10: Q81.8 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 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 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 |