KEGG   DISEASE: Autosomal recessive congenital ichthyosisHelp
Entry
H00734                      Disease                                

Name
Autosomal recessive congenital ichthyosis
  Subgroup
Lamellar ichthyosis (LI)
Non-bullous congenital ichthyosiform erythroderma (NBCIE)
  Supergrp
Congenital ichthyosis [DS:H01771]
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
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of skin
   H00734  Autosomal recessive congenital ichthyosis
Human diseases in ICD-10 classification [BR:br08403]
 17. Congenital malformations, deformations and chromosomal abnormalities (Q00-Q99)
  Q80-Q89  Other congenital malformations
   Q80  Congenital ichthyosis
    H00734  Autosomal recessive congenital ichthyosis
BRITE hierarchy
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]
(ARCI8/ LI4) LIPN [HSA:643418]
(ARCI9) CERS3 [HSA:204219] [KO:K04710]
(ARCI10) PNPLA1 [HSA:285848] [KO:K16813]
(ARCI11) ST14 [HSA:6768] [KO:K08670]
(ARCI12) CASP14 [HSA:23581] [KO:K04401]
(ARCI13) SDR9C7 [HSA:121214]
(ARCI14) SULT2B1 [HSA:6820] [KO:K01015]
Comment
Bullous congenital ichthyosiform erythroderma (BCIE) is described in H00691.
See also H00733 Harlequin ichthyosis and H00739 Ichthyosis with hypotrichosis.
Other DBs
ICD-10: Q80.2
MeSH: D017490
OMIM: 242300 242100 606545 601277 604777 612281 613943 615023 615024 602400 617320 617574 617571
Reference
PMID:18341575 (description)
  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
Reference
PMID:16935789 (description, gene)
  Authors
Oji V, Traupe H
  Title
Ichthyoses: differential diagnosis and molecular genetics.
  Journal
Eur J Dermatol 16:349-59 (2006)
Reference
PMID:16481150 (description, gene)
  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
Reference
PMID:16436457 (gene)
  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
Reference
PMID:15317751 (gene)
  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
Reference
PMID:21439540 (gene)
  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
Reference
PMID:23549421 (gene)
  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
Reference
PMID:22246504 (gene)
  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
Reference
PMID:27494380 (gene)
  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
Reference
PMID:28173123 (gene)
  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
Reference
PMID:28575648 (gene)
  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

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