KEGG   DISEASE: Monilethrix
Entry
H00670                      Disease                                
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
Brite
Human diseases in ICD-11 classification [BR:br08403]
 14 Diseases of the skin
  Genetic and developmental disorders affecting the skin
   EC21  Genetic defects of hair or hair growth
    H00670  Monilethrix
Gene
KRT81 [HSA:3887] [KO:K07605]
KRT83 [HSA:3889] [KO:K07605]
KRT86 [HSA:3892] [KO:K07605]
Other DBs
ICD-11: EC21.0
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
Reference
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
Reference
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

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Disease (1)   
   OMIM (1)   
Gene (4)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (3)   
Literature (3)   
   PubMed (3)   
All databases (8)   

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