POROK9
MCID: PRK074
MIFTS: 16

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 58 76 6
Porok9 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


Classifications:



External Ids:

OMIM 58 616631
MeSH 45 D017499
SNOMED-CT via HPO 70 80432009

Summaries for Porokeratosis 9, Multiple Types

OMIM : 58 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 : 76 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:

33
# Description HPO Frequency HPO Source Accession
1 porokeratosis 33 HP:0200044

Symptoms via clinical synopsis from OMIM:

58
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

Anatomical Context for Porokeratosis 9, Multiple Types

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

42
Skin

Publications for Porokeratosis 9, Multiple Types

Articles related to Porokeratosis 9, Multiple Types:

# Title Authors Year
1
Genomic variations of the mevalonate pathway in porokeratosis. ( 26202976 )
2015

Variations for Porokeratosis 9, Multiple Types

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

76
# Symbol AA change Variation ID SNP ID
1 FDPS p.Arg179Gln VAR_075062 rs863225241

ClinVar genetic disease variations for Porokeratosis 9, Multiple Types:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FDPS NM_002004.3(FDPS): c.536G> A (p.Arg179Gln) single nucleotide variant Pathogenic rs863225241 GRCh37 Chromosome 1, 155287787: 155287787
2 FDPS NM_002004.3(FDPS): c.536G> A (p.Arg179Gln) single nucleotide variant Pathogenic rs863225241 GRCh38 Chromosome 1, 155317996: 155317996
3 FDPS NM_001135822.1(FDPS): c.283-1776_649-143del deletion Pathogenic GRCh38 Chromosome 1, 155316165: 155319468
4 FDPS NM_001135822.1(FDPS): c.283-1776_649-143del deletion Pathogenic GRCh37 Chromosome 1, 155285956: 155289259
5 FDPS NM_001135822.1(FDPS): c.486+1G> A single nucleotide variant Pathogenic rs769193201 GRCh38 Chromosome 1, 155318292: 155318292
6 FDPS NM_001135822.1(FDPS): c.486+1G> A single nucleotide variant Pathogenic rs769193201 GRCh37 Chromosome 1, 155288083: 155288083

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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