Details of Disease

General Information of Disease (ID: DISQGG08)

Disease Name Erythrokeratoderma
Definition
An umbrella term for a group of rare genetic skin disorders characterized by well-demarcated plaques of reddened, dry and thickened skin. Typically, these lesions are distributed symmetrically on the body and tend to slowly expand and progress over time.
Disease Hierarchy
DISIDQ39: Epidermal disease
DISQGG08: Erythrokeratoderma
Disease Identifiers
MONDO ID
MONDO_0019270
UMLS CUI
C0432330
MedGen ID
609461
Orphanet ID
79355
SNOMED CT ID
254215005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
DCPS TTLSW9V Strong Genetic Variation [1]
GJA1 TT4F7SL Strong Biomarker [2]
GJB3 TTVRQ8L Strong Genetic Variation [3]
GJB4 TTBRDFI Strong Genetic Variation [4]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SLURP1 OT89YD2E moderate Genetic Variation [5]
KDSR OTCIES3H Strong Genetic Variation [6]
LORICRIN OTFRPVEO Strong Genetic Variation [7]
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References

1 Mal de Meleda in a taiwanese.J Formos Med Assoc. 2005 Apr;104(4):276-8.
2 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.
3 Novel and recurrent connexin 30.3 and connexin 31 mutations associated with erythrokeratoderma variabilis.Clin Exp Dermatol. 2011 Jan;36(1):88-90. doi: 10.1111/j.1365-2230.2010.03945.x.
4 Erythrokeratoderma variabilis caused by a recessive mutation in GJB3. Clin Exp Dermatol. 2011 Jun;36(4):406-11. doi: 10.1111/j.1365-2230.2010.03986.x.
5 SLURP1 mutation-impaired T-cell activation in a family with mal de Meleda.Br J Dermatol. 2011 Jan;164(1):47-53. doi: 10.1111/j.1365-2133.2010.10059.x. Epub 2010 Nov 23.
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 Abnormal cornified cell envelope formation in mutilating palmoplantar keratoderma unrelated to epidermal differentiation complex.J Invest Dermatol. 1998 Jul;111(1):133-8. doi: 10.1046/j.1523-1747.1998.00230.x.