KEGG DISEASE: Autosomal recessive congenital ichthyosis

DISEASE: Autosomal recessive congenital ichthyosis

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 in ICD-11 classification [BR:br08403]
14 Diseases of the skin
  Genetic and developmental disorders affecting the skin
   EC20  Genetic disorders of keratinisation
    H00734  Autosomal recessive congenital ichthyosis
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06545  Cornified envelope formation
   H00734  Autosomal recessive congenital ichthyosis

Pathway

hsa04382 Cornified envelope formation

Network

nt06545 Cornified envelope formation

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]

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

MeSH:

D017490 C537264 C565749 C536273

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

Reference

PMID:16935789

Authors

Oji V, Traupe H

Title

Ichthyoses: differential diagnosis and molecular genetics.

Journal

Eur J Dermatol 16:349-59 (2006)

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

LinkDB

» Japanese version

DISEASE: Ichthyosis with hypotrichosis

Entry

H00739                      Disease

Name

Ichthyosis with hypotrichosis

Description

Ichthyosis with hypotrichosis is a syndromic form of autosomal recessive congenital ichthyoses associated with abnormal hair. Sparse scalp hair, wrinkled skin, and corneal abnormalities are observed in patients with the disease. It is linked to ST14 encoding the matriptase serine protease.