Details of Disease | DrugMAP

General Information of Disease (ID: DISYAB1Q)

Disease Name	Congenital reticular ichthyosiform erythroderma
Synonyms	Aarau disease; erythroderma, ichthyosiform, congenital reticular; erythrokeratoderma, reticular; CRIE; ichthyosis with confetti; ichthyosis variegata; IWC
Disease Hierarchy	DIS5N46O: Keratinopathic ichthyosis DISYAB1Q: Congenital reticular ichthyosiform erythroderma
Disease Identifiers	MONDO ID MONDO_0012208 UMLS CUI C3665704 OMIM ID 609165 MedGen ID 777141 Orphanet ID 281190 SNOMED CT ID 703504006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KRT1	OTIOJWA4	Supportive	Autosomal dominant	[1]
KRT10	OTSVRD3Q	Strong	Autosomal dominant	[2]
KRT2	OTG2EZEN	Strong	Genetic Variation	[3]
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References

1	Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti. J Clin Invest. 2015 Apr;125(4):1703-7. doi: 10.1172/JCI64415. Epub 2015 Mar 16.
2	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.
3	Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis. Acta Derm Venereol. 2016 May;96(4):473-8. doi: 10.2340/00015555-2299.