Details of Disease

General Information of Disease (ID: DISV8HQX)

Disease Name	Congenital ichthyosiform erythroderma
Synonyms	lamellar desquamation of the newborn; lamellar ichthyosis; erythrodermic ichthyosis; non-bullous congenital ichthyosiform erythroderma; congenital ichthyosiform erythroderma (disease); congenital ichthyosiform erythroderma; alligator skin; nonbullous congenital ichthyosiform erythroderma; congenital non bullous ichthyosiform erythroderma; CIE; ichthyosiform erythroderma
Disease Class	EC20: Congenital ichthyosis
Definition	A variant of autosomal recessive congenital ichthyosis (ARCI), a rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body.
Disease Hierarchy	DISCPWH9: Autosomal recessive disease DISVMSR6: Autosomal recessive congenital ichthyosis DISV8HQX: Congenital ichthyosiform erythroderma
ICD Code	ICD-11 ICD-11: EC20.02
Disease Identifiers	MONDO ID MONDO_0019306 MESH ID D017490 UMLS CUI C0079154 MedGen ID 38180 HPO ID HP:0007479 Orphanet ID 79394 SNOMED CT ID 205550003

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 1 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
LM-030	DMSJOE3	Phase 2	NA	[1]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TGM1	TT7A949	Limited	Genetic Variation	[2]
GBA	TT1B5PU	moderate	Biomarker	[3]
ALDH3A2	TTB6UM0	Strong	Altered Expression	[4]
SLC27A4	TT20AYF	Strong	Biomarker	[5]
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This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ABCA12	DT7LDG0	Limited	Genetic Variation	[6]
ABCA12	DT7LDG0	Supportive	Autosomal recessive	[7]
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This Disease Is Related to 4 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
TGM1	DEFJOAG	Supportive	Autosomal recessive	[8]
ALOX12B	DEISPU8	Strong	Autosomal recessive	[9]
CYB5A	DE9A2LB	Strong	Genetic Variation	[10]
SULT2B1	DEZBN53	Strong	Genetic Variation	[11]
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This Disease Is Related to 16 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CYP4F22	OTMNPZQL	Limited	Genetic Variation	[12]
LIPN	OT3TXO8F	Limited	GermlineCausalMutation	[13]
ABCA12	OTKH9YQZ	Supportive	Autosomal recessive	[7]
CERS3	OTKCEPYQ	Supportive	Autosomal recessive	[14]
NIPAL4	OT43JC9A	Supportive	Autosomal recessive	[15]
PNPLA1	OTUI609X	Supportive	Autosomal recessive	[16]
TGM1	OTB8URRI	Supportive	Autosomal recessive	[8]
ABHD5	OTY829Z3	moderate	Genetic Variation	[17]
FLG	OTE9QDV6	moderate	Biomarker	[18]
LORICRIN	OTFRPVEO	moderate	Genetic Variation	[19]
SPINK5	OT61IIAO	moderate	Biomarker	[20]
ALOX12B	OTQ0BYK6	Strong	Autosomal recessive	[9]
ALOXE3	OT76J52A	Strong	Autosomal recessive	[9]
CAPN12	OTU4OCC7	Strong	Biomarker	[21]
DMKN	OTRIGZMK	Strong	Biomarker	[22]
SDR9C7	OTQY8SJ3	Strong	GermlineCausalMutation	[23]
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⏷ Show the Full List of 16 DOT(s)

References

1	Clinical pipeline report, company report or official report of the Pharmaceutical Research and Manufacturers of America (PhRMA)
2	Human stratum corneum proteomics reveals cross-linking of a broad spectrum of proteins in cornified envelopes.Exp Dermatol. 2019 May;28(5):618-622. doi: 10.1111/exd.13925.
3	Type 2 Gaucher disease: the collodion baby phenotype revisited.Arch Dis Child Fetal Neonatal Ed. 2000 Mar;82(2):F163-6. doi: 10.1136/fn.82.2.f163.
4	Restoration of fatty aldehyde dehydrogenase deficiency in Sjgren-Larsson syndrome.Gene Ther. 2006 Jul;13(13):1021-6. doi: 10.1038/sj.gt.3302743. Epub 2006 Mar 9.
5	Interactions between FATP4 and ichthyin in epidermal lipid processing may provide clues to the pathogenesis of autosomal recessive congenital ichthyosis.J Dermatol Sci. 2013 Mar;69(3):195-201. doi: 10.1016/j.jdermsci.2012.11.593. Epub 2012 Dec 13.
6	Recessive mosaicism in ABCA12 causes blaschkoid congenital ichthyosiform erythroderma.Br J Dermatol. 2020 Jan;182(1):208-211. doi: 10.1111/bjd.18216. Epub 2019 Jul 28.
7	Novel compound heterozygous nonsense and missense ABCA12 mutations lead to nonbullous congenital ichthyosiform erythroderma. Br J Dermatol. 2008 Apr;158(4):864-7. doi: 10.1111/j.1365-2133.2008.08439.x. Epub 2008 Feb 16.
8	The clinical spectrum of nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis. Clin Exp Dermatol. 2003 May;28(3):235-40. doi: 10.1046/j.1365-2230.2003.01295.x.
9	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
10	Cytochrome b5 null mouse: a new model for studying inherited skin disorders and the role of unsaturated fatty acids in normal homeostasis.Transgenic Res. 2011 Jun;20(3):491-502. doi: 10.1007/s11248-010-9426-1. Epub 2010 Jul 30.
11	Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans. Am J Hum Genet. 2017 Jun 1;100(6):926-939. doi: 10.1016/j.ajhg.2017.05.007.
12	Severe Skin Permeability Barrier Dysfunction inKnockout Mice Deficient in a Fatty Acid -Hydroxylase Crucial to Acylceramide Production.J Invest Dermatol. 2020 Feb;140(2):319-326.e4. doi: 10.1016/j.jid.2019.07.689. Epub 2019 Jul 26.
13	A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis. Am J Hum Genet. 2011 Apr 8;88(4):482-7. doi: 10.1016/j.ajhg.2011.02.011.
14	Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length. J Invest Dermatol. 2013 Sep;133(9):2202-11. doi: 10.1038/jid.2013.153. Epub 2013 Apr 2.
15	NIPAL4/ichthyin is expressed in the granular layer of human epidermis and mutated in two Pakistani families with autosomal recessive ichthyosis. Dermatology. 2010;220(1):8-14. doi: 10.1159/000265757. Epub 2009 Dec 10.
16	PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans. Nat Genet. 2012 Jan 15;44(2):140-7. doi: 10.1038/ng.1056.
17	Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome. Am J Hum Genet. 2001 Nov;69(5):1002-12. doi: 10.1086/324121. Epub 2001 Oct 2.
18	Distinguishing ichthyoses by protein profiling.PLoS One. 2013 Oct 9;8(10):e75355. doi: 10.1371/journal.pone.0075355. eCollection 2013.
19	Loricrin keratoderma: a cause of congenital ichthyosiform erythroderma and collodion baby.Br J Dermatol. 2001 Oct;145(4):657-60. doi: 10.1046/j.1365-2133.2001.04412.x.
20	LEKTI domains D6, D7 and D8+9 serve as substrates for transglutaminase 1: implications for targeted therapy of Netherton syndrome.Br J Dermatol. 2019 Nov;181(5):999-1008. doi: 10.1111/bjd.17820. Epub 2019 Jun 6.
21	Calpain 12 Function Revealed through the Study of an Atypical Case of Autosomal Recessive Congenital Ichthyosis.J Invest Dermatol. 2017 Feb;137(2):385-393. doi: 10.1016/j.jid.2016.07.043. Epub 2016 Oct 18.
22	Homeostatic Function of Dermokine in the Skin Barrier and Inflammation.J Invest Dermatol. 2020 Apr;140(4):838-849.e9. doi: 10.1016/j.jid.2019.09.011. Epub 2019 Oct 25.
23	Identification of mutations in SDR9C7 in six families with autosomal recessive congenital ichthyosis. Br J Dermatol. 2018 Mar;178(3):e207-e209. doi: 10.1111/bjd.15994. Epub 2018 Jan 21.