Details of Disease | DrugMAP

General Information of Disease (ID: DISJF6BI)

Disease Name	Autosomal recessive congenital ichthyosis 8
Synonyms	ichthyosis, congenital, autosomal recessive 8; lamellar ichthyosis, late-onset; ichthyosis, lamellar, 4; ichthyosis, lamellar, 4, formerly; ARCI8; late-onset lamellar ichthyosis; ichthyosis, congenital, autosomal recessive type 8; autosomal recessive congenital ichthyosis type 8; lamellar ichthyosis 4
Definition	Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the LIPN gene.
Disease Hierarchy	DIS714UN: Lamellar ichthyosis DISVMSR6: Autosomal recessive congenital ichthyosis DISJF6BI: Autosomal recessive congenital ichthyosis 8
Disease Identifiers	MONDO ID MONDO_0013495 UMLS CUI C3553029 OMIM ID 613943 MedGen ID 765943

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
LIPN	OT3TXO8F	Strong	Autosomal recessive	[1]
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References

1	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.