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 73 29 6
Porok9 57 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

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


HPO:

31
porokeratosis 9, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 616631
OMIM Phenotypic Series 57 PS175800
MeSH 44 D017499
SNOMED-CT via HPO 68 263681008 80432009

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) (Updated 05-Mar-2021)

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

UniProtKB/Swiss-Prot : 73 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

Diseases in the Porokeratosis family:

Porokeratosis 1, Multiple Types Porokeratosis 3, Multiple Types
Porokeratosis 6, Multiple Types Porokeratosis 7, Multiple Types
Porokeratosis 9, Multiple Types

Diseases related to Porokeratosis 9, Multiple Types via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 porokeratosis 9.5 RUSC1-AS1 FDPS

Symptoms & Phenotypes for Porokeratosis 9, Multiple Types

Human phenotypes related to Porokeratosis 9, Multiple Types:

31
# Description HPO Frequency HPO Source Accession
1 porokeratosis 31 HP:0200044

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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

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. 6 57
26202976 2015
2
Porokeratosis of Mibelli. Overview and review of the literature. 57
9188872 1997

Variations for Porokeratosis 9, Multiple Types

ClinVar genetic disease variations for Porokeratosis 9, Multiple Types:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RUSC1-AS1 NM_002004.4(FDPS):c.481-1776_847-143del Deletion Pathogenic 217747 1:155285951-155289254 1:155316165-155319468
2 RUSC1-AS1 NM_002004.4(FDPS):c.684+1G>A SNV Pathogenic 217748 rs769193201 1:155288083-155288083 1:155318292-155318292
3 RUSC1-AS1 NM_002004.4(FDPS):c.536G>A (p.Arg179Gln) SNV Pathogenic 217746 rs863225241 1:155287787-155287787 1:155317996-155317996

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

73
# Symbol AA change Variation ID SNP ID
1 FDPS p.Arg179Gln VAR_075062 rs863225241

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
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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