Details of Disease

General Information of Disease (ID: DISF48DQ)

Disease Name Porokeratosis of Mibelli
Definition
Porokeratosis of Mibelli (PM) is a form of porokeratosis that is characterized by the presence of brown single or multiple annular plaques of varying size, that are sometimes confluent, with a distinctive sharply-defined keratotic border.
Disease Hierarchy
DISJPL2I: Porokeratosis
DISF48DQ: Porokeratosis of Mibelli
Disease Identifiers
MONDO ID
MONDO_0019141
MESH ID
D017499
UMLS CUI
C0949506
OMIM ID
175800
MedGen ID
181842
Orphanet ID
735
SNOMED CT ID
80432009

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
PMVK TTXMI0C Limited Biomarker [1]
PMVK TTXMI0C Supportive Autosomal dominant [2]
MVD TTE5J6X Strong Genetic Variation [3]
MVK TT5DFHW Strong GermlineCausalMutation [2]
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This Disease Is Related to 1 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
MVK DEAO92K Supportive Autosomal dominant [2]
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This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MVK OTHJCUKT Supportive Autosomal dominant [2]
PMVK OTPBR06U Supportive Autosomal dominant [2]
ARPC3 OTKWVF8P Definitive Biomarker [4]
EMILIN2 OTOYK5A8 Definitive Genetic Variation [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 Genomic variations of the mevalonate pathway in porokeratosis. Elife. 2015 Jul 23;4:e06322. doi: 10.7554/eLife.06322.
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 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.
5 Identification of an interstitial 18p11.32-p11.31 duplication including the EMILIN2 gene in a family with porokeratosis of Mibelli.PLoS One. 2013 Apr 10;8(4):e61311. doi: 10.1371/journal.pone.0061311. Print 2013.