Details of Disease | DrugMAP

General Information of Disease (ID: DISDBKJ4)

Disease Name	Autosomal recessive congenital ichthyosis 3
Synonyms	ichthyosis, lamellar, 5, formerly; ichthyosis, lamellar, 5; ichthyosis, congenital, autosomal recessive 3; collodion baby, self-healing; ARCI3; lamellar ichthyosis 5; ichthyosis, congenital, autosomal recessive type 3; autosomal recessive congenital ichthyosis type 3
Definition	Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the ALOXE3 gene.
Disease Hierarchy	DIS714UN: Lamellar ichthyosis DIS1EEFN: Self-healing collodion baby DISV8HQX: Congenital ichthyosiform erythroderma DISVMSR6: Autosomal recessive congenital ichthyosis DISDBKJ4: Autosomal recessive congenital ichthyosis 3
Disease Identifiers	MONDO ID MONDO_0011680 UMLS CUI C3539888 OMIM ID 606545 MedGen ID 761665

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ALOXE3	OT76J52A	Strong	Autosomal recessive	[1]
SEC23B	OT2NFSIQ	Strong	CausalMutation	[2]
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References

1	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.
2	Two founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian population.Am J Hematol. 2011 Sep;86(9):727-32. doi: 10.1002/ajh.22096.