Details of Disease

General Information of Disease (ID: DISJPL2I)

Disease Name Porokeratosis
Synonyms porokeratosis (disease); porokeratosis
Definition A clonal proliferation of abnormal keratinocytes characterized by the development of localized or multiple atrophic skin patches surrounded by an annular keratotic ring called cornoid lamella.
Disease Hierarchy
DISIDQ39: Epidermal disease
DISF0NF1: Keratosis
DISSCALK: Hereditary skin disorder
DISJPL2I: Porokeratosis
Disease Identifiers
MONDO ID
MONDO_0006602
MESH ID
D017499
UMLS CUI
C0162839
MedGen ID
56518
HPO ID
HP:0200044
Orphanet ID
183444
SNOMED CT ID
400080004

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
FDPS TTIKWV4 Strong Biomarker [1]
MVK TT5DFHW Strong Genetic Variation [2]
PMVK TTXMI0C Strong Biomarker [1]
MVD TTE5J6X Definitive Genetic Variation [3]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SSH1 OT4BE2M4 Strong Genetic Variation [4]
ARPC3 OTKWVF8P Definitive Biomarker [5]
GGPS1 OTVEHG28 Definitive Biomarker [1]
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References

1 Disorder of the mevalonate pathway inhibits calcium-induced differentiation of keratinocytes.Mol Med Rep. 2017 Oct;16(4):4811-4816. doi: 10.3892/mmr.2017.7128. Epub 2017 Aug 1.
2 Splicing mutation in MVK is a cause of porokeratosis of Mibelli.Arch Dermatol Res. 2014 Oct;306(8):749-55. doi: 10.1007/s00403-014-1465-7. Epub 2014 Apr 30.
3 Clonal Expansion of Second-Hit Cells with Somatic Recombinations or C>T Transitions Form Porokeratosis in MVD or MVK Mutant Heterozygotes.J Invest Dermatol. 2019 Dec;139(12):2458-2466.e9. doi: 10.1016/j.jid.2019.05.020. Epub 2019 Jun 15.
4 Fine mapping and identification of a candidate gene SSH1 in disseminated superficial actinic porokeratosis.Hum Mutat. 2004 Nov;24(5):438. doi: 10.1002/humu.9283.
5 Reassessment of microarray expression data of porokeratosis by quantitative real-time polymerase chain reaction.J Cutan Pathol. 2010 Mar;37(3):371-5. doi: 10.1111/j.1600-0560.2009.01332.x. Epub 2009 Jul 13.