KEGG DISEASE: 常染色体劣性遺伝性先天性魚鱗癬

DISEASE: 常染色体劣性遺伝性先天性魚鱗癬

エントリ

H00734

名称

常染色体劣性遺伝性先天性魚鱗癬

下位グループ

葉状魚鱗癬 (LI)
非水疱型先天性魚鱗癬様紅皮症 (NBCIE)

上位グループ

先天性魚鱗癬 [DS:H01771]

概要

Autosomal recessive congenital ichthyoses comprise a heterogeneous group of skin disorders of hyperkeratosis. Two non-syndromic forms are defined including lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NBCIE). LI shows more severe phonotype with tight covering of a newborn that is later replaced by large, dark scales. In contrast, NBCIE shows a more pronounced erythroderma with fine, white scaling.

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
   EC20  遺伝性角化症
    H00734  常染色体劣性遺伝性先天性魚鱗癬

病因遺伝子

(ARCI1/ LI1) TGM1 [HSA:7051] [KO:K05619]
(ARCI2/ NBCIE) ALOX12B [HSA:242] [KO:K08021]
(ARCI3/ LI5) ALOXE3 [HSA:59344] [KO:K18684]
(ARCI4/ LI2) ABCA12 [HSA:26154] [KO:K05646]
(ARCI5/ LI3) CYP4F22 [HSA:126410] [KO:K17731]
(ARCI6) NIPAL4 [HSA:348938] [KO:K22733]
(ARCI8/ LI4) LIPN [HSA:643418] [KO:K24210]
(ARCI9) CERS3 [HSA:204219] [KO:K24622]
(ARCI10) PNPLA1 [HSA:285848] [KO:K16813]
(ARCI11) ST14 [HSA:6768] [KO:K08670]
(ARCI12) CASP14 [HSA:23581] [KO:K04401]
(ARCI13) SDR9C7 [HSA:121214] [KO:K24425]
(ARCI14) SULT2B1 [HSA:6820] [KO:K01015]

治療薬

エトレチナート [DR:D00316]

Bullous congenital ichthyosiform erythroderma (BCIE) is described in H00691.
See also H00733 Harlequin ichthyosis and H00739 Ichthyosis with hypotrichosis.

リンク

ICD-11:

EC20.02

MeSH:

D017490

OMIM:

242300 242100 606545 601277 604777 612281 613943 615023 615024 602400 617320 617574 617571

文献

PMID:18341575

著者

Akiyama M, Shimizu H

タイトル

An update on molecular aspects of the non-syndromic ichthyoses.

雑誌

Exp Dermatol 17:373-82 (2008)
DOI:10.1111/j.1600-0625.2007.00691.x

文献

PMID:16935789

著者

Oji V, Traupe H

タイトル

Ichthyoses: differential diagnosis and molecular genetics.

雑誌

Eur J Dermatol 16:349-59 (2006)

文献

PMID:16481150

著者

Akiyama M

タイトル

Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: the underlying genetic defects and pathomechanisms.

雑誌

J Dermatol Sci 42:83-9 (2006)
DOI:10.1016/j.jdermsci.2006.01.003

文献

PMID:16436457

著者

Lefevre C, Bouadjar B, Ferrand V, Tadini G, Megarbane A, Lathrop M, Prud'homme JF, Fischer J

タイトル

Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3.

雑誌

Hum Mol Genet 15:767-76 (2006)
DOI:10.1093/hmg/ddi491

文献

PMID:15317751

著者

Lefevre C, Bouadjar B, Karaduman A, Jobard F, Saker S, Ozguc M, Lathrop M, Prud'homme JF, Fischer J

タイトル

Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis.

雑誌

Hum Mol Genet 13:2473-82 (2004)
DOI:10.1093/hmg/ddh263

文献

PMID:21439540

著者

Israeli S, Khamaysi Z, Fuchs-Telem D, Nousbeck J, Bergman R, Sarig O, Sprecher E

タイトル

A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis.

雑誌

Am J Hum Genet 88:482-7 (2011)
DOI:10.1016/j.ajhg.2011.02.011

文献

PMID:23549421

著者

Eckl KM, Tidhar R, Thiele H, Oji V, Hausser I, Brodesser S, Preil ML, Onal-Akan A, Stock F, Muller D, Becker K, Casper R, Nurnberg G, Altmuller J, Nurnberg P, Traupe H, Futerman AH, Hennies HC

タイトル

Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length.

雑誌

J Invest Dermatol 133:2202-11 (2013)
DOI:10.1038/jid.2013.153

文献

PMID:22246504

著者

Grall A, Guaguere E, Planchais S, Grond S, Bourrat E, Hausser I, Hitte C, Le Gallo M, Derbois C, Kim GJ, Lagoutte L, Degorce-Rubiales F, Radner FP, Thomas A, Kury S, Bensignor E, Fontaine J, Pin D, Zimmermann R, Zechner R, Lathrop M, Galibert F, Andre C, Fischer J

タイトル

PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans.

雑誌

Nat Genet 44:140-7 (2012)
DOI:10.1038/ng.1056

文献

PMID:27494380

著者

Kirchmeier P, Zimmer A, Bouadjar B, Rosler B, Fischer J

タイトル

Whole-Exome-Sequencing Reveals Small Deletions in CASP14 in Patients with Autosomal Recessive Inherited Ichthyosis.

雑誌

Acta Derm Venereol 96:102-104 (2017)
DOI:10.2340/00015555-2510

文献

PMID:28173123

著者

Shigehara Y, Okuda S, Nemer G, Chedraoui A, Hayashi R, Bitar F, Nakai H, Abbas O, Daou L, Abe R, Sleiman MB, Kibbi AG, Kurban M, Shimomura Y

タイトル

Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis.

雑誌

Hum Mol Genet 25:4484-4493 (2016)
DOI:10.1093/hmg/ddw277

文献

PMID:28575648

著者

Heinz L, Kim GJ, Marrakchi S, Christiansen J, Turki H, Rauschendorf MA, Lathrop M, Hausser I, Zimmer AD, Fischer J

タイトル

Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans.

雑誌

Am J Hum Genet 100:926-939 (2017)
DOI:10.1016/j.ajhg.2017.05.007

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