POROK1
MCID: PRK082
MIFTS: 42

Porokeratosis 1, Multiple Types (POROK1)

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

Aliases & Classifications for Porokeratosis 1, Multiple Types

MalaCards integrated aliases for Porokeratosis 1, Multiple Types:

Name: Porokeratosis 1, Multiple Types 58 76
Porokeratosis of Mibelli 58 77 54 60 76 30 6 74
Porok1 58 76
Porokeratosis 1, Mibelli Type 76

Characteristics:

Orphanet epidemiological data:

60
porokeratosis of mibelli
Inheritance: Autosomal dominant,Not applicable; Age of onset: Adolescent,Adult,Childhood; Age of death: elderly;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset of lesions usually in first or second decade of life, but may occur as late as the seventh decade


HPO:

33
porokeratosis 1, multiple types:
Inheritance autosomal dominant inheritance
Onset and clinical course middle age onset


Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

OMIM 58 175800
MeSH 45 D017499
ICD10 via Orphanet 35 Q82.8
UMLS via Orphanet 75 C0949506
Orphanet 60 ORPHA735
MedGen 43 C0949506
UMLS 74 C0949506

Summaries for Porokeratosis 1, 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 several individuals expressing more than one variant, have been reported, suggesting that the distinctions among these variants may be artificial. Mutations in the MVK gene have been found to cause multiple types of porokeratosis, which have been described as porokeratosis of Mibelli, porokeratoma, genital porokeratosis, hyperkeratotic porokeratosis, and linear porokeratosis. The preferred title of this entry was formerly 'Porokeratosis 1, Mibelli Type; POROK1.' (175800)

MalaCards based summary : Porokeratosis 1, Multiple Types, also known as porokeratosis of mibelli, is related to porokeratosis and linear porokeratosis. An important gene associated with Porokeratosis 1, Multiple Types is PMVK (Phosphomevalonate Kinase), and among its related pathways/superpathways are Terpenoid backbone biosynthesis and Regulation of cholesterol biosynthesis by SREBP (SREBF). Affiliated tissues include skin, bone and t cells, and related phenotypes are hyperkeratosis and aplasia/hypoplasia of the skin

NIH Rare Diseases : 54 Porokeratosis of Mibelli is a skin condition that usually develops in children or young adults.  It begins as one or a few small, brownish bumps that grow into raised, bumpy patches.  These patches slowly increase in size over time.  The cause of this condition is unknown, though exposure to sunlight or other forms of radiation, genetic factors and a weakened immune system have been suggested as possible risk factors.  Porokeratosis of Mibelli may sometimes harm normal tissue underlying the affected area; it may also develop into skin cancer.  Treatment depends on the size, location, and aggressiveness of porokeratosis in each affected individual; it may include observation only, medication, or surgery.

UniProtKB/Swiss-Prot : 76 Porokeratosis 1, 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.

Wikipedia : 77 Porokeratosis is a specific disorder of keratinization that is characterized histologically by the... more...

Related Diseases for Porokeratosis 1, Multiple Types

Graphical network of the top 20 diseases related to Porokeratosis 1, Multiple Types:



Diseases related to Porokeratosis 1, Multiple Types

Symptoms & Phenotypes for Porokeratosis 1, Multiple Types

Human phenotypes related to Porokeratosis 1, Multiple Types:

60 33 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperkeratosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000962
2 aplasia/hypoplasia of the skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0008065
3 porokeratosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0200044
4 pruritus 60 33 frequent (33%) Frequent (79-30%) HP:0000989
5 cutaneous photosensitivity 60 33 frequent (33%) Frequent (79-30%) HP:0000992
6 neoplasm of the skin 33 frequent (33%) HP:0008069
7 abnormality of chromosome stability 33 HP:0003220

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Skin:
porokeratosis of mibelli
porokeratoma
genital porokeratosis, localized
hyperkeratotic porokeratosis
linear porokeratosis

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

Clinical features from OMIM:

175800

GenomeRNAi Phenotypes related to Porokeratosis 1, Multiple Types according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 8.62 MVK PMVK

Drugs & Therapeutics for Porokeratosis 1, Multiple Types

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Cytodiagnosis of Basal Cell Carcinoma and Actinic Keratosis Using Papanicolaou and May-grunwald-giemsa Stained Tissue Smear Completed NCT00218868

Search NIH Clinical Center for Porokeratosis 1, Multiple Types

Genetic Tests for Porokeratosis 1, Multiple Types

Genetic tests related to Porokeratosis 1, Multiple Types:

# Genetic test Affiliating Genes
1 Porokeratosis of Mibelli 30 PMVK

Anatomical Context for Porokeratosis 1, Multiple Types

MalaCards organs/tissues related to Porokeratosis 1, Multiple Types:

42
Skin, Bone, T Cells, Colon, Bone Marrow

Publications for Porokeratosis 1, Multiple Types

Articles related to Porokeratosis 1, Multiple Types:

(show top 50) (show all 134)
# Title Authors Year
1
Onychodystrophy due to porokeratosis of Mibelli: a rare association. ( 28632889 )
2017
2
Updating and identifying a novel mutation in the PMVK gene in classic porokeratosis of Mibelli. ( 28736818 )
2017
3
Dermoscopy of Porokeratosis of Mibelli. ( 28761862 )
2017
4
Keratoacanthoma Arising Over Margin of Porokeratosis of Mibelli: A New Association? ( 26955114 )
2016
5
Diagnosing porokeratosis of Mibelli every time: a novel biopsy technique to maximize histopathologic confirmation. ( 27023081 )
2016
6
Porokeratosis of Mibelli: case report of an uncommon penile lesion. ( 27338161 )
2016
7
Porokeratosis of Mibelli in an HIV-positive patient. ( 28300920 )
2016
8
[Verrucous variant of porokeratosis of Mibelli as a differential diagnosis of psoriasis vulgaris]. ( 26525967 )
2016
9
Recalcitrant Digital Porokeratosis of Mibelli: A Successful Surgical Treatment. ( 26199929 )
2015
10
Genomic variations of the mevalonate pathway in porokeratosis. ( 26202976 )
2015
11
Coexistence of porokeratosis ptychotropica with porokeratosis of Mibelli in a Chinese man. ( 26366157 )
2015
12
Treatment of porokeratosis of Mibelli with ingenol mebutate: a possible new therapeutic option. ( 25409424 )
2015
13
Cutaneous sarcoidosis simulating porokeratosis of Mibelli. ( 26113926 )
2015
14
Classic porokeratosis of Mibelli. ( 25593805 )
2014
15
Disseminated giant porokeratosis and porokeratosis of Mibelli in Bankura and Bardhaman districts, West Bengal, India. ( 24898929 )
2014
16
Splicing mutation in MVK is a cause of porokeratosis of Mibelli. ( 24781643 )
2014
17
Giant porokeratosis of Mibelli with squamous cell carcinoma. ( 24448149 )
2014
18
Porokeratosis of Mibelli--literature review and a case report. ( 24346913 )
2013
19
Treatment of porokeratosis of Mibelli with cantharidin. ( 24124851 )
2013
20
Porokeratosis of Mibelli: Giant variant. ( 23984259 )
2013
21
Benign giant cutaneous horn formed by giant porokeratosis of Mibelli with dysplasia. ( 23619455 )
2013
22
Identification of an interstitial 18p11.32-p11.31 duplication including the EMILIN2 gene in a family with porokeratosis of Mibelli. ( 23593459 )
2013
23
Porokeratosis of Mibelli: a new indication for photodynamic therapy? ( 23102435 )
2013
24
Porokeratosis palmaris, plantaris et disseminata vs. porokeratosis of Mibelli. ( 21916890 )
2012
25
Treatment of classic porokeratosis of Mibelli with Q-switched ruby laser. ( 22062326 )
2012
26
Isolated single digit Porokeratosis of Mibelli: an unusual case. ( 23122020 )
2012
27
Different morphological variants of hypertrophic porokeratosis and disseminated lesions of porokeratosis of Mibelli: a rare co-existence. ( 21393956 )
2011
28
Porokeratosis of Mibelli: Involution and resolution with 5% imiquimod cream. ( 22070709 )
2011
29
Coexistence of porokeratosis of Mibelli with Gardner's syndrome: A rare case report. ( 23130235 )
2011
30
The successful off-label use of photodynamic therapy for classic porokeratosis of Mibelli: case report. ( 22353157 )
2011
31
Porokeratosis of Mibelli with mutilation: a case report. ( 20919600 )
2010
32
Porokeratosis of Mibelli: Successful treatment with 5 percent topical imiquimod and topical 5 percent 5-fluorouracil. ( 21199636 )
2010
33
Disseminated porokeratosis of Mibelli: A case report. ( 21199638 )
2010
34
Treatment of porokeratosis of mibelli with combined use of photodynamic therapy and Fluorouracil cream. ( 20404225 )
2010
35
Co-localization of lichen planus and porokeratosis of Mibelli. ( 19736452 )
2009
36
Simultaneous co-occurrence of porokeratosis of Mibelli with disseminated superficial actinic porokeratosis. ( 20101350 )
2009
37
Clinical and dermoscopic features of porokeratosis of Mibelli. ( 19153357 )
2009
38
Follicular porokeratosis of Mibelli on the buttocks. ( 18627390 )
2009
39
Isolated primary cardiac amyloidosis associated with porokeratosis of Mibelli. ( 17397946 )
2008
40
Porokeratosis of Mibelli and superficial disseminated porokeratosis. ( 18190456 )
2008
41
What is your diagnosis? Porokeratosis of Mibelli. ( 17330617 )
2007
42
Pterygium unguis formation in porokeratosis of Mibelli. ( 17459040 )
2007
43
Giant verrucous porokeratosis of Mibelli mimicking psoriasis in a patient with psoriasis. ( 17870431 )
2007
44
Porokeratosis of Mibelli following bone marrow transplantation. ( 16650158 )
2006
45
Porokeratosis of Mibelli induced by topical corticosteroid. ( 16872477 )
2006
46
A thick lichenified plaque on the ventral penile shaft. Penile porokeratosis of Mibelli. ( 16983014 )
2006
47
Porokeratosis of Mibelli of the axillae: treatment with topical imiquimod. ( 17092865 )
2006
48
Successful treatment of porokeratosis of Mibelli with imiquimod 5% cream. ( 16487129 )
2006
49
Porokeratosis of Mibelli: successful treatment with cryosurgery. ( 15187342 )
2004
50
Coexistence of disseminated superficial and giant porokeratosis of Mibelli with squamous cell carcinoma. ( 17642918 )
2003

Variations for Porokeratosis 1, Multiple Types

ClinVar genetic disease variations for Porokeratosis 1, Multiple Types:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PMVK NM_006556.3(PMVK): c.412C> T (p.Arg138Ter) single nucleotide variant Pathogenic rs745983207 GRCh38 Chromosome 1, 154926384: 154926384
2 PMVK NM_006556.3(PMVK): c.412C> T (p.Arg138Ter) single nucleotide variant Pathogenic rs745983207 GRCh37 Chromosome 1, 154898860: 154898860
3 PMVK NM_006556.3(PMVK): c.550del (p.Leu184Terfs) deletion Pathogenic rs879255607 GRCh38 Chromosome 1, 154925158: 154925158
4 PMVK NM_006556.3(PMVK): c.550del (p.Leu184Terfs) deletion Pathogenic rs879255607 GRCh37 Chromosome 1, 154897634: 154897634

Cosmic variations for Porokeratosis 1, 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 COSM498 HRAS skin,genital,carcinoma,squamous cell carcinoma c.182A>T p.Q61L 11:533874-533874 0

Expression for Porokeratosis 1, Multiple Types

Search GEO for disease gene expression data for Porokeratosis 1, Multiple Types.

Pathways for Porokeratosis 1, Multiple Types

GO Terms for Porokeratosis 1, Multiple Types

Cellular components related to Porokeratosis 1, Multiple Types according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peroxisome GO:0005777 8.62 MVK PMVK

Biological processes related to Porokeratosis 1, Multiple Types according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 9.48 MVK PMVK
2 lipid metabolic process GO:0006629 9.46 MVK PMVK
3 steroid metabolic process GO:0008202 9.43 MVK PMVK
4 cholesterol metabolic process GO:0008203 9.4 MVK PMVK
5 steroid biosynthetic process GO:0006694 9.37 MVK PMVK
6 cholesterol biosynthetic process GO:0006695 9.32 MVK PMVK
7 regulation of cholesterol biosynthetic process GO:0045540 9.26 MVK PMVK
8 sterol biosynthetic process GO:0016126 9.16 MVK PMVK
9 isoprenoid biosynthetic process GO:0008299 8.96 MVK PMVK
10 isopentenyl diphosphate biosynthetic process, mevalonate pathway GO:0019287 8.62 MVK PMVK

Molecular functions related to Porokeratosis 1, Multiple Types according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 kinase activity GO:0016301 8.62 MVK PMVK

Sources for Porokeratosis 1, 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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