| H00734 | |
| H番号 | H00734 |
| 名称 | 常染色体劣性遺伝性先天性魚鱗癬 |
| 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 |
| ネットワーク | - |
| 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] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | エトレチナート [DR:D00316] |
| コメント | 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 ICD-10: Q80.2 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 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) 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 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 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 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 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 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 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 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 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 |