| H00670 | |
| H number | H00670 |
| Name | Monilethrix |
| Description | Monilethrix is a disease of the hair cortex characterized by an unusually deformed hair shaft and alopecia. It has been named for the beaded appearance of affected hairs. Mutations in type II hair follicle-specific keratins lead to monilethrix. |
| Category | Congenital malformation |
| Network | - |
| Gene | KRT81 [HSA:3887] [KO:K07605] KRT83 [HSA:3889] [KO:K07605] KRT86 [HSA:3892] [KO:K07605] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: EC21.0 ICD-10: Q84.1 MeSH: D056734 OMIM: 158000 |
| Reference | PMID:17428470 AUTHORS Schweizer J, Langbein L, Rogers MA, Winter H TITLE Hair follicle-specific keratins and their diseases. JOURNAL Exp Cell Res 313:2010-20 (2007) DOI:10.1016/j.yexcr.2007.02.032 PMID:21890491 AUTHORS McLean WH, Moore CB TITLE Keratin disorders: from gene to therapy. JOURNAL Hum Mol Genet 20:R189-97 (2011) DOI:10.1093/hmg/ddr379 PMID:21496408 AUTHORS Rossi A, Iorio A, Scali E, Fortuna MC, Mari E, Palese E, Greco P, Carlesimo M TITLE Monilethrix treated with minoxidil. JOURNAL Int J Immunopathol Pharmacol 24:239-42 (2011) DOI:10.1177/039463201102400129 |