Details of Disease | DrugMAP

General Information of Disease (ID: DIS0IG0Y)

Disease Name	Autosomal recessive congenital ichthyosis 10
Synonyms	ichthyosis, congenital, autosomal recessive 10; ichthyosis, congenital, autosomal recessive type 10; ARCI10; autosomal recessive congenital ichthyosis type 10
Definition	Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the PNPLA1 gene.
Disease Hierarchy	DISV8HQX: Congenital ichthyosiform erythroderma DISVMSR6: Autosomal recessive congenital ichthyosis DIS0IG0Y: Autosomal recessive congenital ichthyosis 10
Disease Identifiers	MONDO ID MONDO_0014011 UMLS CUI C3554355 OMIM ID 615024 MedGen ID 767269

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
PNPLA1	OTUI609X	Strong	Autosomal recessive	[1]
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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.