Details of Disease | DrugMAP

General Information of Disease (ID: DISPRT4O)

Disease Name	Porokeratosis 3, disseminated superficial actinic type
Synonyms	Dsap; porokeratosis, disseminated superficial actinic, 1; POROK3; porokeratosis, disseminated superficial actinic 1; DSAP1; porokeratosis 3, multiple types; porokeratosis 3, disseminated superficial actinic type
Disease Hierarchy	DISELZ77: Disseminated superficial actinic porokeratosis DISF48DQ: Porokeratosis of Mibelli DISPRT4O: Porokeratosis 3, disseminated superficial actinic type
Disease Identifiers	MONDO ID MONDO_0008293 UMLS CUI C1867981 OMIM ID 175900 MedGen ID 401352

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
MVK	TT5DFHW	Strong	CausalMutation	[1]
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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	Strong	Autosomal dominant	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MVK	OTHJCUKT	Strong	Autosomal dominant	[2]
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References

1	Mevalonate kinase deficiency associated with ataxia and retinitis pigmentosa in two brothers with MVK gene mutations.Ophthalmic Genet. 2017 Jul-Aug;38(4):340-344. doi: 10.1080/13816810.2016.1227459. Epub 2017 Jan 17.
2	Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency. Hum Mutat. 2006 Aug;27(8):796-802. doi: 10.1002/humu.20361.