POROK9
MCID: PRK074
MIFTS: 19

Porokeratosis 9, Multiple Types (POROK9)

Categories: Cancer diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Porokeratosis 9, Multiple Types

MalaCards integrated aliases for Porokeratosis 9, Multiple Types:

Name: Porokeratosis 9, Multiple Types 57 74 29 6
Porok9 57 74

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
intrafamilial variability
onset of lesions may occur in early childhood or as late as the seventh decade


HPO:

32
porokeratosis 9, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

MeSH 44 D017499

Summaries for Porokeratosis 9, Multiple Types

OMIM : 57 Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course (Schamroth et al., 1997). However, as noted by Sybert (2010), several families with expression of more than one variant of porokeratosis among members, and individuals expressing more than one variant, have been reported, suggesting that the distinctions among these variants may be artificial. Mutations in the FDPS gene have been found to cause multiple types of porokeratosis, which have been described as disseminated superficial actinic porokeratosis (DSAP) and nonactinic disseminated superficial porokeratosis (DSP). For a discussion of genetic heterogeneity of porokeratosis, see 174800. (616631)

MalaCards based summary : Porokeratosis 9, Multiple Types, is also known as porok9. An important gene associated with Porokeratosis 9, Multiple Types is FDPS (Farnesyl Diphosphate Synthase). Affiliated tissues include skin, and related phenotype is porokeratosis.

UniProtKB/Swiss-Prot : 74 Porokeratosis 9, multiple types: A form of porokeratosis, a disorder of faulty keratinization characterized by one or more atrophic patches surrounded by a distinctive hyperkeratotic ridgelike border called the cornoid lamella. The keratotic lesions can progress to overt cutaneous neoplasms, typically squamous cell carcinomas. Multiple clinical variants of porokeratosis are recognized, including porokeratosis of Mibelli, linear porokeratosis, disseminated superficial actinic porokeratosis, palmoplantar porokeratosis, and punctate porokeratosis. Different clinical presentations can be observed among members of the same family. Individuals expressing more than one variant have also been reported.

Related Diseases for Porokeratosis 9, Multiple Types

Symptoms & Phenotypes for Porokeratosis 9, Multiple Types

Human phenotypes related to Porokeratosis 9, Multiple Types:

32
# Description HPO Frequency HPO Source Accession
1 porokeratosis 32 HP:0200044

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin Histology:
vertical columns of parakeratosis (cornoid lamella) overlying area of hypogranulosis with dyskeratotic cells

Skin Nails Hair Skin:
disseminated superficial actinic porokeratosis
non-actinic disseminated superficial porokeratosis

Clinical features from OMIM:

616631

Drugs & Therapeutics for Porokeratosis 9, Multiple Types

Search Clinical Trials , NIH Clinical Center for Porokeratosis 9, Multiple Types

Genetic Tests for Porokeratosis 9, Multiple Types

Genetic tests related to Porokeratosis 9, Multiple Types:

# Genetic test Affiliating Genes
1 Porokeratosis 9, Multiple Types 29 FDPS

Anatomical Context for Porokeratosis 9, Multiple Types

MalaCards organs/tissues related to Porokeratosis 9, Multiple Types:

41
Skin

Publications for Porokeratosis 9, Multiple Types

Articles related to Porokeratosis 9, Multiple Types:

# Title Authors PMID Year
1
Genomic variations of the mevalonate pathway in porokeratosis. 8 71
26202976 2015
2
Porokeratosis of Mibelli. Overview and review of the literature. 8
9188872 1997

Variations for Porokeratosis 9, Multiple Types

ClinVar genetic disease variations for Porokeratosis 9, Multiple Types:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 FDPS NM_002004.4(FDPS): c.536G> A (p.Arg179Gln) single nucleotide variant Pathogenic rs863225241 1:155287787-155287787 1:155317996-155317996
2 FDPS NM_002004.4(FDPS): c.481-1776_847-143del deletion Pathogenic 1:155285956-155289259 1:155316165-155319468
3 FDPS NM_002004.4(FDPS): c.684+1G> A single nucleotide variant Pathogenic rs769193201 1:155288083-155288083 1:155318292-155318292

UniProtKB/Swiss-Prot genetic disease variations for Porokeratosis 9, Multiple Types:

74
# Symbol AA change Variation ID SNP ID
1 FDPS p.Arg179Gln VAR_075062 rs863225241

Cosmic variations for Porokeratosis 9, Multiple Types:

9
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM99602 skin,forearm,carcinoma,squamous cell carcinoma c.743G>A p.R248Q 17:7674220-7674220 4

Expression for Porokeratosis 9, Multiple Types

Search GEO for disease gene expression data for Porokeratosis 9, Multiple Types.

Pathways for Porokeratosis 9, Multiple Types

GO Terms for Porokeratosis 9, Multiple Types

Sources for Porokeratosis 9, Multiple Types

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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