Details of Disease | DrugMAP

General Information of Disease (ID: DISHW55J)

Disease Name	Ichthyosis, hystrix-like, with hearing loss
Synonyms	HID syndrome; ichthyosis, hystrix-like, with deafness; hystrix-like ichthyosis with deafness
Disease Hierarchy	DISRBJLW: KID syndrome DISHW55J: Ichthyosis, hystrix-like, with hearing loss
Disease Identifiers	MONDO ID MONDO_0011245 MESH ID C566528 UMLS CUI C1865234 OMIM ID 602540 MedGen ID 355410

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GJB2	TTRGZX3	Limited	Biomarker	[1]
GJB2	TTRGZX3	Definitive	Autosomal dominant	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GJB2	OTBKLEYB	Definitive	Autosomal dominant	[2]
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References

1	Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.Genet Med. 2019 Nov;21(11):2442-2452. doi: 10.1038/s41436-019-0535-9. Epub 2019 Jun 4.
2	A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350). J Med Genet. 2000 Jan;37(1):50-1. doi: 10.1136/jmg.37.1.50.