Details of Disease | DrugMAP

General Information of Disease (ID: DISD8E4P)

Disease Name	Erythrokeratodermia variabilis et progressiva 6
Synonyms	ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 6; EKVP6
Disease Hierarchy	DIS4BMUQ: Erythrokeratodermia variabilis DISD8E4P: Erythrokeratodermia variabilis et progressiva 6
Disease Identifiers	MONDO ID MONDO_0032801 UMLS CUI C5193144 OMIM ID 618531 MedGen ID 1681026

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TRPM4	TTJ2HKA	Strong	Autosomal dominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TRPM4	OT354X8E	Strong	Autosomal dominant	[1]
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References

1	Gain-of-Function Mutations in TRPM4 Activation Gate Cause Progressive Symmetric Erythrokeratodermia. J Invest Dermatol. 2019 May;139(5):1089-1097. doi: 10.1016/j.jid.2018.10.044. Epub 2018 Dec 5.