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
(MNLIX1) KRT86 [HSA:3892] [KO:K07605]
(MNLIX2) KRT81 [HSA:3887] [KO:K07605]
(MNLIX3) KRT83 [HSA:3889] [KO:K07605]
Other DBs
ICD-11: EC21.0
MeSH: D056734
OMIM: 158000 621169 621170
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
Reference
PMID:10469314 (MNLIX1)
  Authors
Winter H, Clark RD, Tarras-Wahlberg C, Rogers MA, Schweizer J
  Title
Monilethrix: a novel mutation (Glu402Lys) in the helix termination motif and the first causative mutation (Asn114Asp) in the helix initiation motif of the type II  hair keratin hHb6.
  Journal
J Invest Dermatol 113:263-6 (1999)
DOI:10.1046/j.1523-1747.1999.00685.x
Reference
PMID:9402962 (MNLIX2)
  Authors
Winter H, Rogers MA, Gebhardt M, Wollina U, Boxall L, Chitayat D, Babul-Hirji R, Stevens HP, Zlotogorski A, Schweizer J
  Title
A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix.
  Journal
Hum Genet 101:165-9 (1997)
DOI:10.1007/s004390050607
Reference
PMID:15744029 (MNLIX3)
  Authors
van Steensel MA, Steijlen PM, Bladergroen RS, Vermeer M, van Geel M
  Title
A missense mutation in the type II hair keratin hHb3 is associated with monilethrix.
  Journal
J Med Genet 42:e19 (2005)
DOI:10.1136/jmg.2004.021030
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