Details of Disease | DrugMAP

General Information of Disease (ID: DISNNFS1)

Disease Name	Ichthyosis, congenital, autosomal recessive 14
Synonyms	autosomal recessive congenital ichthyosis 14; ARCI14; ichthyosis, congenital, autosomal recessive 14
Disease Hierarchy	DISVMSR6: Autosomal recessive congenital ichthyosis DISNNFS1: Ichthyosis, congenital, autosomal recessive 14
Disease Identifiers	MONDO ID MONDO_0033091 UMLS CUI C4539754 OMIM ID 617571 MedGen ID 1620129

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
SULT2B1	DEZBN53	Strong	Autosomal recessive	[1]
SULT2B1	DEZBN53	Strong	Genetic Variation	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SULT2B1	OT0QMKO3	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.
2	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.