Details of Disease | DrugMAP

General Information of Disease (ID: DISUI66N)

Disease Name	Erythrokeratodermia variabilis et progressiva 1
Synonyms	erythrokeratodermia Figurata, congenital familial, in plaques; erythrokeratodermia variabilis Et progressiva; keratosis palmoplantaris transgrediens Et progrediens; erythrokeratodermia variabilis ET progressiva 1; Greither disease; erythrokeratodermia, progressive symmetric; EKVP1; erythrokeratodermia variabilis; erythrokeratodermia variabilis with erythema Gyratum Repens
Disease Hierarchy	DIS4BMUQ: Erythrokeratodermia variabilis DISUI66N: Erythrokeratodermia variabilis et progressiva 1
Disease Identifiers	MONDO ID MONDO_0033010 UMLS CUI C4551486 OMIM ID 133200 MedGen ID 1633225

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
GJB3	TTVRQ8L	Strong	Autosomal dominant	[1]
GJB3	TTVRQ8L	Strong	Biomarker	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GJB3	OTLJ59E7	Strong	Autosomal dominant	[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	The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3.Hum Genet. 2000 Mar;106(3):321-9. doi: 10.1007/s004390051045.