POROK1
MCID: PRK082
MIFTS: 41

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 57 74
Porokeratosis of Mibelli 57 75 53 59 74 29 6 72
Porok1 57 74
Porokeratosis 1, Mibelli Type 74

Characteristics:

Orphanet epidemiological data:

59
porokeratosis of mibelli
Inheritance: Autosomal dominant,Not applicable; Age of onset: Adolescent,Adult,Childhood; Age of death: elderly;

OMIM:

57
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:

32
porokeratosis 1, multiple types:
Inheritance autosomal dominant inheritance
Onset and clinical course middle age onset


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

MeSH 44 D017499
ICD10 via Orphanet 34 Q82.8
UMLS via Orphanet 73 C0949506
Orphanet 59 ORPHA735
MedGen 42 C0949506
UMLS 72 C0949506

Summaries for Porokeratosis 1, 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 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, colon and heart, and related phenotypes are hyperkeratosis and aplasia/hypoplasia of the skin

NIH Rare Diseases : 53 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 : 74 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 : 75 Porokeratosis is a specific disorder of keratinization that is characterized histologically by the... more...

Related Diseases for Porokeratosis 1, 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 1, Multiple Types via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 porokeratosis 32.3 PMVK MVK
2 linear porokeratosis 30.0 PMVK MVK
3 punctate porokeratosis 29.7 PMVK MVK
4 porokeratosis 3, multiple types 11.9
5 porokeratosis 7, multiple types 11.8
6 porokeratosis 8, disseminated superficial actinic type 11.8
7 porokeratosis 9, multiple types 11.8
8 pustulosis of palm and sole 10.6
9 psoriasis 10.6
10 squamous cell carcinoma 10.5
11 basal cell carcinoma 10.3
12 skin disease 10.3
13 erythrokeratoderma ''en cocardes'' 10.3
14 rare genetic skin disease 10.3
15 epidermoid cysts 10.2
16 porokeratosis 2, palmar, plantar, and disseminated type 10.2
17 sarcoidosis 1 10.2
18 vitiligo-associated multiple autoimmune disease susceptibility 6 10.2
19 werner syndrome 10.2
20 vitiligo-associated multiple autoimmune disease susceptibility 1 10.2
21 porokeratosis 4, disseminated superficial actinic type 10.2
22 porokeratosis 5, disseminated superficial actinic type 10.2
23 porokeratosis 6, multiple types 10.2
24 chorea, childhood-onset, with psychomotor retardation 10.2
25 familial adenomatous polyposis 10.2
26 exanthem 10.2
27 lymphoma 10.2
28 cutaneous t cell lymphoma 10.2
29 allergic hypersensitivity disease 10.2
30 tinea corporis 10.2
31 choreatic disease 10.2
32 skin sarcoidosis 10.2
33 keratosis 10.2
34 hepatitis 10.2
35 colon adenocarcinoma 10.2
36 hemangioma 10.2
37 glomerulonephritis 10.2
38 keratoacanthoma 10.2
39 neurodermatitis 10.2
40 restrictive cardiomyopathy 10.2
41 immune-complex glomerulonephritis 10.2
42 anterolateral myocardial infarction 10.2
43 congestive heart failure 10.2
44 dermatophytosis 10.2
45 amyloidosis 10.2
46 lichen planus 10.2
47 basal cell carcinoma, multiple 10.2
48 bowen's disease 10.2
49 pseudoainhum 10.2
50 discoid lupus erythematosus 10.2

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:

59 32 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperkeratosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000962
2 aplasia/hypoplasia of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0008065
3 porokeratosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0200044
4 pruritus 59 32 frequent (33%) Frequent (79-30%) HP:0000989
5 cutaneous photosensitivity 59 32 frequent (33%) Frequent (79-30%) HP:0000992
6 neoplasm of the skin 32 frequent (33%) HP:0008069
7 abnormality of chromosome stability 32 HP:0003220

Symptoms via clinical synopsis from OMIM:

57
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

Drugs & Therapeutics for Porokeratosis 1, Multiple Types

Search Clinical Trials , 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 29 PMVK

Anatomical Context for Porokeratosis 1, Multiple Types

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

41
Skin, Colon, Heart, Lung, Bone, Bone Marrow, T Cells

Publications for Porokeratosis 1, Multiple Types

Articles related to Porokeratosis 1, Multiple Types:

(show top 50) (show all 190)
# 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. 38 8
9188872 1997
3
Clonal chromosome abnormalities with preferential involvement of chromosome 3 in patients with porokeratosis of Mibelli. 38 8
2790776 1989
4
Cytogenetic studies in a patient with porokeratosis of Mibelli, multiple cancers and a forme fruste of Werner's syndrome. 38 8
6498091 1984
5
Porokeratosis of Mibelli with unusual features. 38 8
143378 1977
6
Porokeratosis of Mibelli after renal transplantation. 38 8
4590663 1974
7
Chromosomal instability associated with susceptibility to malignant disease in patients with porokeratosis of Mibelli. 38 8
4765365 1973
8
Chromosomal instability and malignant disease in patients with Porokeratosis of Mibelli. 38 8
4724634 1973
9
Epithelioma arising in porokeratosis of Mibelli. 38 8
5047154 1972
10
Porokeratosis [correction of Parakeratosis] Mibelli and skin carcinoma: a critical review. 8
1097326 1975
11
Porokeratosis--a mutant clonal keratosis of the epidermis. I. Histogenesis. 8
5414891 1970
12
Porokeratosis. A disease of epidermal eccrine-sweat-duct units. 8
14497537 1961
13
Updating and identifying a novel mutation in the PMVK gene in classic porokeratosis of Mibelli. 38
28736818 2017
14
Follicular porokeratosis: four new cases. 38
28748571 2017
15
Treatment of Porokeratosis: A Systematic Review. 38
28283894 2017
16
Dermoscopy of Porokeratosis of Mibelli. 38
28761862 2017
17
Onychodystrophy due to porokeratosis of Mibelli: a rare association. 38
28632889 2017
18
[Circumscribed palmar hypokeratosis (CPM): The diagnostic value of dermoscopy]. 38
27771123 2017
19
Linear porokeratosis with multiple squamous cell carcinomas successfully treated by electrochemotherapy. 38
27086492 2016
20
Porokeratosis of Mibelli in an HIV-positive patient. 38
28300920 2016
21
Porokeratosis of Mibelli: case report of an uncommon penile lesion. 38
27338161 2016
22
Porokeratosis ptychotropica: a rare manifestation with typical histological exam. 38
27579746 2016
23
Diagnosing porokeratosis of Mibelli every time: a novel biopsy technique to maximize histopathologic confirmation. 38
27023081 2016
24
[Verrucous variant of porokeratosis of Mibelli as a differential diagnosis of psoriasis vulgaris]. 38
26525967 2016
25
Keratoacanthoma Arising Over Margin of Porokeratosis of Mibelli: A New Association? 38
26955114 2016
26
Coexistence of porokeratosis ptychotropica with porokeratosis of Mibelli in a Chinese man. 38
26366157 2015
27
Recalcitrant Digital Porokeratosis of Mibelli: A Successful Surgical Treatment. 38
26199929 2015
28
Porokeratosis - Head to toe: An unusual presentation. 38
25821731 2015
29
Treatment of porokeratosis of Mibelli with ingenol mebutate: a possible new therapeutic option. 38
25409424 2015
30
Cutaneous sarcoidosis simulating porokeratosis of Mibelli. 38
26113926 2015
31
Classic porokeratosis of Mibelli. 38
25593805 2014
32
Splicing mutation in MVK is a cause of porokeratosis of Mibelli. 38
24781643 2014
33
Disseminated giant porokeratosis and porokeratosis of Mibelli in Bankura and Bardhaman districts, West Bengal, India. 38
24898929 2014
34
Clinical analysis and etiology of porokeratosis. 38
25120591 2014
35
Co-existence of porokeratosis variants concurrent with Bowen's disease: two rare cases report. 38
25123017 2014
36
Pruritic porokeratotic peno-scrotal plaques: porokeratosis or porokeratotic epidermal reaction pattern? A report of 10 cases. 38
24448119 2014
37
Giant porokeratosis of Mibelli with squamous cell carcinoma. 38
24448149 2014
38
Porokeratosis of Mibelli--literature review and a case report. 38
24346913 2013
39
Treatment of porokeratosis of Mibelli with cantharidin. 38
24124851 2013
40
Porokeratosis of Mibelli: Giant variant. 38
23984259 2013
41
[Porokeratosis of Mibelli]. 38
23923745 2013
42
Benign giant cutaneous horn formed by giant porokeratosis of Mibelli with dysplasia. 38
23619455 2013
43
Porokeratosis of Mibelli: a new indication for photodynamic therapy? 38
23102435 2013
44
Identification of an interstitial 18p11.32-p11.31 duplication including the EMILIN2 gene in a family with porokeratosis of Mibelli. 38
23593459 2013
45
Circumscribed palmar hypokeratosis -- the first case from south-east Europe. 38
23683485 2013
46
Isolated single digit Porokeratosis of Mibelli: an unusual case. 38
23122020 2012
47
Porokeratosis in Singapore: an Asian perspective. 38
22571584 2012
48
Porokeratosis palmaris, plantaris et disseminata vs. porokeratosis of Mibelli. 38
21916890 2012
49
Treatment of classic porokeratosis of Mibelli with Q-switched ruby laser. 38
22062326 2012
50
Porokeratosis of Mibelli: Involution and resolution with 5% imiquimod cream. 38
22070709 2011

Variations for Porokeratosis 1, Multiple Types

ClinVar genetic disease variations for Porokeratosis 1, Multiple Types:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PMVK NM_006556.4(PMVK): c.412C> T (p.Arg138Ter) single nucleotide variant Pathogenic rs745983207 1:154898860-154898860 1:154926384-154926384
2 PMVK NM_006556.4(PMVK): c.550del (p.Asn183_Leu184insTer) deletion Pathogenic rs879255607 1:154897634-154897634 1:154925158-154925158

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 8

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 PMVK MVK

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

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 PMVK MVK

Sources for Porokeratosis 1, 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
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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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