Details of Disease | DrugMAP

General Information of Disease (ID: DISQSVSF)

Disease Name	Ichthyosiform erythroderma, corneal involvement, and hearing loss
Synonyms	Desmons syndrome; KID syndrome, autosomal recessive; keratitis-ichthyosis-deafness syndrome, autosomal recessive; ichthyosiform erythroderma, corneal involvement, deafness; ichthyosiform erythroderma, corneal involvement, and deafness
Disease Hierarchy	DISRBJLW: KID syndrome DISQSVSF: Ichthyosiform erythroderma, corneal involvement, and hearing loss
Disease Identifiers	MONDO ID MONDO_0009440 MESH ID C537363 UMLS CUI C1275089 OMIM ID 242150 MedGen ID 224809 SNOMED CT ID 403780007

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
AP1B1	OTY0K84R	Strong	Autosomal recessive	[1]
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References

1	Recessive Mutations in AP1B1 Cause Ichthyosis, Deafness, and Photophobia. Am J Hum Genet. 2019 Nov 7;105(5):1023-1029. doi: 10.1016/j.ajhg.2019.09.021. Epub 2019 Oct 17.