| H00734 | |
| H number | H00734 |
| Name | Autosomal recessive congenital ichthyosis |
| Description | 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. |
| Category | Congenital malformation |
| Network | - |
| Gene | (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] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | Bullous congenital ichthyosiform erythroderma (BCIE) is described in H00691. See also H00733 Harlequin ichthyosis and H00739 Ichthyosis with hypotrichosis. |
| Other DBs | ICD-11: EC20.02 ICD-10: Q80.2 MeSH: D017490 OMIM: 242300 242100 606545 601277 604777 612281 613943 615023 615024 602400 617320 617574 617571 |
| Reference | PMID:18341575 AUTHORS Akiyama M, Shimizu H TITLE An update on molecular aspects of the non-syndromic ichthyoses. JOURNAL Exp Dermatol 17:373-82 (2008) DOI:10.1111/j.1600-0625.2007.00691.x PMID:16935789 AUTHORS Oji V, Traupe H TITLE Ichthyoses: differential diagnosis and molecular genetics. JOURNAL Eur J Dermatol 16:349-59 (2006) PMID:16481150 AUTHORS Akiyama M TITLE Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: the underlying genetic defects and pathomechanisms. JOURNAL J Dermatol Sci 42:83-9 (2006) DOI:10.1016/j.jdermsci.2006.01.003 PMID:16436457 AUTHORS Lefevre C, Bouadjar B, Ferrand V, Tadini G, Megarbane A, Lathrop M, Prud'homme JF, Fischer J TITLE Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3. JOURNAL Hum Mol Genet 15:767-76 (2006) DOI:10.1093/hmg/ddi491 PMID:15317751 AUTHORS Lefevre C, Bouadjar B, Karaduman A, Jobard F, Saker S, Ozguc M, Lathrop M, Prud'homme JF, Fischer J TITLE Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis. JOURNAL Hum Mol Genet 13:2473-82 (2004) DOI:10.1093/hmg/ddh263 PMID:21439540 AUTHORS Israeli S, Khamaysi Z, Fuchs-Telem D, Nousbeck J, Bergman R, Sarig O, Sprecher E TITLE A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis. JOURNAL Am J Hum Genet 88:482-7 (2011) DOI:10.1016/j.ajhg.2011.02.011 PMID:23549421 AUTHORS 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 TITLE Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length. JOURNAL J Invest Dermatol 133:2202-11 (2013) DOI:10.1038/jid.2013.153 PMID:22246504 AUTHORS 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 TITLE PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans. JOURNAL Nat Genet 44:140-7 (2012) DOI:10.1038/ng.1056 PMID:27494380 AUTHORS Kirchmeier P, Zimmer A, Bouadjar B, Rosler B, Fischer J TITLE Whole-Exome-Sequencing Reveals Small Deletions in CASP14 in Patients with Autosomal Recessive Inherited Ichthyosis. JOURNAL Acta Derm Venereol 96:102-104 (2017) DOI:10.2340/00015555-2510 PMID:28173123 AUTHORS 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 TITLE Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis. JOURNAL Hum Mol Genet 25:4484-4493 (2016) DOI:10.1093/hmg/ddw277 PMID:28575648 AUTHORS Heinz L, Kim GJ, Marrakchi S, Christiansen J, Turki H, Rauschendorf MA, Lathrop M, Hausser I, Zimmer AD, Fischer J TITLE Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans. JOURNAL Am J Hum Genet 100:926-939 (2017) DOI:10.1016/j.ajhg.2017.05.007 |