Details of Disease

General Information of Disease (ID: DIS8CKGR)

Disease Name Porokeratosis 9, multiple types
Synonyms porokeratosis (disease) caused by mutation in FDPS; porokeratosis 9, multiple types; POROK9; FDPS porokeratosis (disease); porokeratosis 9, multiple types; POROK9
Definition Any porokeratosis (disease) in which the cause of the disease is a mutation in the FDPS gene.
Disease Hierarchy
DISELZ77: Disseminated superficial actinic porokeratosis
DISJPL2I: Porokeratosis
DIS8CKGR: Porokeratosis 9, multiple types
Disease Identifiers
MONDO ID
MONDO_0014713
UMLS CUI
C4225262
OMIM ID
616631
MedGen ID
894586

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
FDPS TTIKWV4 Strong Autosomal dominant [1]
FDPS TTIKWV4 Strong Biomarker [2]
------------------------------------------------------------------------------------
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
FDPS OT6CKWV5 Strong Autosomal dominant [1]
------------------------------------------------------------------------------------

References

1 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
2 Mutations in the mevalonate pathway genes in Chinese patients with porokeratosis.J Eur Acad Dermatol Venereol. 2016 Sep;30(9):1512-7. doi: 10.1111/jdv.13653. Epub 2016 Jul 16.