KEGG DISEASE: 連珠毛

DISEASE: 連珠毛

エントリ

H00670

名称

連珠毛

概要

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.

カテゴリ

先天奇形

階層分類

ICD-11 による疾患分類 [BR:jp08403]
14 皮膚の疾患
  皮膚の遺伝性及び発達性疾患
   EC21  毛髪または発毛の遺伝子異常
    H00670  連珠毛

病因遺伝子

(MNLIX1) KRT86 [HSA:3892] [KO:K07605]
(MNLIX2) KRT81 [HSA:3887] [KO:K07605]
(MNLIX3) KRT83 [HSA:3889] [KO:K07605]

リンク

ICD-11:

EC21.0

MeSH:

D056734

OMIM:

158000 621169 621170

文献

PMID:17428470

著者

Schweizer J, Langbein L, Rogers MA, Winter H

タイトル

Hair follicle-specific keratins and their diseases.

雑誌

Exp Cell Res 313:2010-20 (2007)
DOI:10.1016/j.yexcr.2007.02.032

文献

PMID:21890491

著者

McLean WH, Moore CB

タイトル

Keratin disorders: from gene to therapy.

雑誌

Hum Mol Genet 20:R189-97 (2011)
DOI:10.1093/hmg/ddr379

文献

PMID:21496408

著者

Rossi A, Iorio A, Scali E, Fortuna MC, Mari E, Palese E, Greco P, Carlesimo M

タイトル

Monilethrix treated with minoxidil.

雑誌

Int J Immunopathol Pharmacol 24:239-42 (2011)
DOI:10.1177/039463201102400129

文献

PMID:10469314 (MNLIX1)

著者

Winter H, Clark RD, Tarras-Wahlberg C, Rogers MA, Schweizer J

タイトル

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.

雑誌

J Invest Dermatol 113:263-6 (1999)
DOI:10.1046/j.1523-1747.1999.00685.x

文献

PMID:9402962 (MNLIX2)

著者

Winter H, Rogers MA, Gebhardt M, Wollina U, Boxall L, Chitayat D, Babul-Hirji R, Stevens HP, Zlotogorski A, Schweizer J

タイトル

A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix.

雑誌

Hum Genet 101:165-9 (1997)
DOI:10.1007/s004390050607

文献

PMID:15744029 (MNLIX3)

著者

van Steensel MA, Steijlen PM, Bladergroen RS, Vermeer M, van Geel M

タイトル

A missense mutation in the type II hair keratin hHb3 is associated with monilethrix.

雑誌

J Med Genet 42:e19 (2005)
DOI:10.1136/jmg.2004.021030

LinkDB

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