Details of Disease

Disease Name

Disseminated superficial actinic porokeratosis

Definition

Disseminated superficial actinic porokeratosis (DSAP) is the most common form of porokeratosis characterized by the presence of several small annular plaques with a distinctive keratotic rim found most commonly on sun-exposed areas of the skin, particularly the extremities.

Disease Hierarchy

DISJPL2I: Porokeratosis

DISELZ77: Disseminated superficial actinic porokeratosis

Disease Identifiers

MONDO ID

MONDO_0019212

MESH ID

D017499

UMLS CUI

C0265970

MedGen ID

120561

Orphanet ID

79152

SNOMED CT ID

41495000

General Information of Disease (ID: DISELZ77)

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
MVD	TTE5J6X	Limited	Genetic Variation	[1]
FDPS	TTIKWV4	Supportive	Autosomal dominant	[2]
FDPS	TTIKWV4	Strong	GermlineCausalMutation	[2]
MVK	TT5DFHW	Strong	Biomarker	[3]
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This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC17A9	DT9BI8W	Supportive	Autosomal dominant	[4]
SLC17A9	DT9BI8W	moderate	Biomarker	[5]
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This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
MVD	DE7G63U	Supportive	Autosomal dominant	[2]
MVK	DEAO92K	Supportive	Autosomal dominant	[6]
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This Disease Is Related to 7 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ARPC3	OTKWVF8P	Limited	Genetic Variation	[7]
SSH1	OT4BE2M4	Limited	Biomarker	[8]
FDPS	OT6CKWV5	Supportive	Autosomal dominant	[2]
MVD	OTGEX4SR	Supportive	Autosomal dominant	[2]
MVK	OTHJCUKT	Supportive	Autosomal dominant	[6]
SLC17A9	OTF951ZS	Supportive	Autosomal dominant	[4]
SART3	OTC1AM7S	Moderate	Autosomal dominant	[9]
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⏷ Show the Full List of 7 DOT(s)

References

1	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.
2	Genomic variations of the mevalonate pathway in porokeratosis. Elife. 2015 Jul 23;4:e06322. doi: 10.7554/eLife.06322.
3	Novel mutations in mevalonate kinase cause disseminated superficial actinic porokeratosis.Br J Dermatol. 2019 Aug;181(2):304-313. doi: 10.1111/bjd.17596. Epub 2019 Mar 18.
4	Exome sequencing identifies SLC17A9 pathogenic gene in two Chinese pedigrees with disseminated superficial actinic porokeratosis. J Med Genet. 2014 Oct;51(10):699-704. doi: 10.1136/jmedgenet-2014-102486. Epub 2014 Sep 1.
5	[Mutation in the SLC17A9 gene in familial superficial actinic disseminated porokeratosis].Ann Dermatol Venereol. 2015 Feb;142(2):155-6. doi: 10.1016/j.annder.2014.12.004. Epub 2015 Jan 14.
6	Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis. Nat Genet. 2012 Oct;44(10):1156-60. doi: 10.1038/ng.2409. Epub 2012 Sep 16.
7	Two closely linked variations in actin cytoskeleton pathway in a Chinese pedigree with disseminated superficial actinic porokeratosis.J Am Acad Dermatol. 2005 Jun;52(6):972-6. doi: 10.1016/j.jaad.2005.01.099.
8	Identification of a genetic locus for autosomal dominant disseminated superficial actinic porokeratosis on chromosome 1p31.3-p31.1.Hum Genet. 2008 Jun;123(5):507-13. doi: 10.1007/s00439-008-0504-x. Epub 2008 Apr 29.
9	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.