Details of Disease | DrugMAP

General Information of Disease (ID: DIS4BMUQ)

Disease Name	Erythrokeratodermia variabilis
Synonyms	keratosis palmoplantaris transgrediens et progrediens; erythrokeratodermia variabilis with erythema gyratum repens; erythrokeratodermia figurata, congenital familial, in plaques; erythrokeratodermia, progressive symmetric; keratoderma palmoplantaris transgrediens; keratosis extremitatum hereditaria progrediens; erythrokeratodermia variabilis with erythema Gyratum Repens; EKVP; erythrokeratodermia variabilis ET progressiva; Ichthyosis, Erythrokeratodermia Variabilis; Darier-Gottron disease; erythrokeratodermia figurata variabilis; erythrokeratodermia variabilis; EKV; erythrokeratodermia variabilis, Mendes da Costa type; progressive symmetric erythrokeratodermia; progressive symmetric erythrokeratodermia, Gottron type; erythrokeratodermia progressiva symmetrica
Definition	A rare genetic chronic skin disorder characterized by hyperkeratosis and transient erythema.
Disease Hierarchy	DIS6O9JS: Diffuse palmoplantar keratoderma DISQGG08: Erythrokeratoderma DIS4BMUQ: Erythrokeratodermia variabilis
Disease Identifiers	MONDO ID MONDO_0017851 MESH ID D056266 UMLS CUI C0265961 MedGen ID 75587 Orphanet ID 316 SNOMED CT ID 70041004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 6 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GJA1	TT4F7SL	Supportive	Autosomal dominant	[1]
GJB4	TTBRDFI	Supportive	Autosomal dominant	[2]
TRPM4	TTJ2HKA	Supportive	Autosomal dominant	[3]
GJA1	TT4F7SL	Strong	Genetic Variation	[4]
TRPM4	TTJ2HKA	Strong	GermlineCausalMutation	[3]
GJB3	TTVRQ8L	Definitive	Autosomal dominant	[5]
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⏷ Show the Full List of 6 DTT(s)

This Disease Is Related to 9 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GJA1	OTT94MKL	Supportive	Autosomal dominant	[1]
GJB4	OTEGZVNG	Supportive	Autosomal dominant	[2]
KDSR	OTCIES3H	Supportive	Autosomal dominant	[6]
KRT83	OTNQ040R	Supportive	Autosomal dominant	[7]
TRPM4	OT354X8E	Supportive	Autosomal dominant	[3]
ELOVL4	OT2M9W26	Strong	Genetic Variation	[8]
FAM111B	OT9IQ9NV	Strong	Biomarker	[9]
LORICRIN	OTFRPVEO	Strong	Genetic Variation	[10]
GJB3	OTLJ59E7	Definitive	Autosomal dominant	[5]
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⏷ Show the Full List of 9 DOT(s)

References

1	Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia. J Invest Dermatol. 2015 Jun;135(6):1540-1547. doi: 10.1038/jid.2014.485. Epub 2014 Nov 14.
2	Novel mutation in GJB4 gene (connexin 30.3) in a family with erythrokeratodermia variabilis. Acta Derm Venereol. 2013 Mar 27;93(2):193-5. doi: 10.2340/00015555-1436.
3	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.
4	Two de novo GJA1 mutation in two sporadic patients with erythrokeratodermia variabilis et progressiva.Mol Genet Genomic Med. 2019 Jun;7(6):e670. doi: 10.1002/mgg3.670. Epub 2019 Mar 29.
5	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
6	Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma. Am J Hum Genet. 2017 Jun 1;100(6):978-984. doi: 10.1016/j.ajhg.2017.05.003.
7	Recessive progressive symmetric erythrokeratoderma results from a homozygous loss-of-function mutation of KRT83 and is allelic with dominant monilethrix. J Med Genet. 2017 Mar;54(3):186-189. doi: 10.1136/jmedgenet-2016-104107. Epub 2016 Dec 13.
8	A Novel Mutation in ELOVL4 Leading to Spinocerebellar Ataxia (SCA) With the Hot Cross Bun Sign but Lacking Erythrokeratodermia: A Broadened Spectrum of SCA34.JAMA Neurol. 2015 Jul;72(7):797-805. doi: 10.1001/jamaneurol.2015.0610.
9	Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis. Am J Hum Genet. 2013 Dec 5;93(6):1100-7. doi: 10.1016/j.ajhg.2013.10.013. Epub 2013 Nov 21.
10	No exonic mutations at GJB2, GJB3, GJB4, GJB6, ARS (Component B), and LOR genes responsible for a Chinese patient affected by progressive symmetric erythrokeratodermia with pseudoainhum.Int J Dermatol. 2014 Sep;53(9):1111-3. doi: 10.1111/ijd.12494. Epub 2014 Jun 25.