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 56 73
Porokeratosis of Mibelli 56 74 52 58 73 29 6 71
Porok1 56 73
Porokeratosis 1, Mibelli Type 73

Characteristics:

Orphanet epidemiological data:

58
porokeratosis of mibelli
Inheritance: Autosomal dominant,Not applicable; Age of onset: Adolescent,Adult,Childhood; Age of death: elderly;

OMIM:

56
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:

31
porokeratosis 1, multiple types:
Inheritance autosomal dominant inheritance
Onset and clinical course middle age onset


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

OMIM 56 175800
OMIM Phenotypic Series 56 PS175800
MeSH 43 D017499
ICD10 via Orphanet 33 Q82.8
UMLS via Orphanet 72 C0949506
Orphanet 58 ORPHA735
MedGen 41 C0949506
UMLS 71 C0949506

Summaries for Porokeratosis 1, Multiple Types

OMIM : 56 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 heart, and related phenotypes are hyperkeratosis and aplasia/hypoplasia of the skin

NIH Rare Diseases : 52 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 : 73 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 : 74 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 53)
# Related Disease Score Top Affiliating Genes
1 porokeratosis 32.4 PMVK MVK
2 linear porokeratosis 30.3 PMVK MVK
3 punctate porokeratosis 29.9 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 colon adenocarcinoma 10.2
35 hemangioma 10.2
36 glomerulonephritis 10.2
37 keratoacanthoma 10.2
38 neurodermatitis 10.2
39 restrictive cardiomyopathy 10.2
40 immune-complex glomerulonephritis 10.2
41 anterolateral myocardial infarction 10.2
42 congestive heart failure 10.2
43 dermatophytosis 10.2
44 amyloidosis 10.2
45 lichen planus 10.2
46 basal cell carcinoma, multiple 10.2
47 bowen's disease 10.2
48 pseudoainhum 10.2
49 discoid lupus erythematosus 10.2
50 pelizaeus-merzbacher disease 9.5 PMVK MVK

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:

58 31 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperkeratosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000962
2 aplasia/hypoplasia of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0008065
3 porokeratosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0200044
4 pruritus 58 31 frequent (33%) Frequent (79-30%) HP:0000989
5 cutaneous photosensitivity 58 31 frequent (33%) Frequent (79-30%) HP:0000992
6 neoplasm of the skin 31 frequent (33%) HP:0008069
7 parakeratosis 31 HP:0001036
8 abnormality of chromosome stability 31 HP:0003220

Symptoms via clinical synopsis from OMIM:

56
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:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 8.62 MVK PMVK

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:

40
Skin, Bone, Heart, Colon, T Cells, Bone Marrow, Lung

Publications for Porokeratosis 1, Multiple Types

Articles related to Porokeratosis 1, Multiple Types:

(show top 50) (show all 191)
# Title Authors PMID Year
1
Genomic variations of the mevalonate pathway in porokeratosis. 56 6
26202976 2015
2
Porokeratosis of Mibelli. Overview and review of the literature. 61 56
9188872 1997
3
Clonal chromosome abnormalities with preferential involvement of chromosome 3 in patients with porokeratosis of Mibelli. 61 56
2790776 1989
4
Cytogenetic studies in a patient with porokeratosis of Mibelli, multiple cancers and a forme fruste of Werner's syndrome. 61 56
6498091 1984
5
Porokeratosis of Mibelli with unusual features. 61 56
143378 1977
6
Porokeratosis of Mibelli after renal transplantation. 61 56
4590663 1974
7
Chromosomal instability associated with susceptibility to malignant disease in patients with porokeratosis of Mibelli. 61 56
4765365 1973
8
Chromosomal instability and malignant disease in patients with Porokeratosis of Mibelli. 61 56
4724634 1973
9
Epithelioma arising in porokeratosis of Mibelli. 61 56
5047154 1972
10
Porokeratosis [correction of Parakeratosis] Mibelli and skin carcinoma: a critical review. 56
1097326 1975
11
Porokeratosis--a mutant clonal keratosis of the epidermis. I. Histogenesis. 56
5414891 1970
12
Porokeratosis. A disease of epidermal eccrine-sweat-duct units. 56
14497537 1961
13
Squamous cell carcinoma arising from giant porokeratosis and rare postoperative recurrence and metastasis: A case report. 61
31914072 2020
14
Follicular porokeratosis: four new cases. 61
28748571 2017
15
Updating and identifying a novel mutation in the PMVK gene in classic porokeratosis of Mibelli. 61
28736818 2017
16
Treatment of Porokeratosis: A Systematic Review. 61
28283894 2017
17
Dermoscopy of Porokeratosis of Mibelli. 61
28761862 2017
18
Onychodystrophy due to porokeratosis of Mibelli: a rare association. 61
28632889 2017
19
[Circumscribed palmar hypokeratosis (CPM): The diagnostic value of dermoscopy]. 61
27771123 2017
20
Linear porokeratosis with multiple squamous cell carcinomas successfully treated by electrochemotherapy. 61
27086492 2016
21
Porokeratosis of Mibelli in an HIV-positive patient. 61
28300920 2016
22
Porokeratosis of Mibelli: case report of an uncommon penile lesion. 61
27338161 2016
23
Porokeratosis ptychotropica: a rare manifestation with typical histological exam. 61
27579746 2016
24
Diagnosing porokeratosis of Mibelli every time: a novel biopsy technique to maximize histopathologic confirmation. 61
27023081 2016
25
[Verrucous variant of porokeratosis of Mibelli as a differential diagnosis of psoriasis vulgaris]. 61
26525967 2016
26
Keratoacanthoma Arising Over Margin of Porokeratosis of Mibelli: A New Association? 61
26955114 2016
27
Coexistence of porokeratosis ptychotropica with porokeratosis of Mibelli in a Chinese man. 61
26366157 2015
28
Recalcitrant Digital Porokeratosis of Mibelli: A Successful Surgical Treatment. 61
26199929 2015
29
Porokeratosis - Head to toe: An unusual presentation. 61
25821731 2015
30
Treatment of porokeratosis of Mibelli with ingenol mebutate: a possible new therapeutic option. 61
25409424 2015
31
Cutaneous sarcoidosis simulating porokeratosis of Mibelli. 61
26113926 2015
32
Classic porokeratosis of Mibelli. 61
25593805 2014
33
Splicing mutation in MVK is a cause of porokeratosis of Mibelli. 61
24781643 2014
34
Disseminated giant porokeratosis and porokeratosis of Mibelli in Bankura and Bardhaman districts, West Bengal, India. 61
24898929 2014
35
Clinical analysis and etiology of porokeratosis. 61
25120591 2014
36
Co-existence of porokeratosis variants concurrent with Bowen's disease: two rare cases report. 61
25123017 2014
37
Pruritic porokeratotic peno-scrotal plaques: porokeratosis or porokeratotic epidermal reaction pattern? A report of 10 cases. 61
24448119 2014
38
Giant porokeratosis of Mibelli with squamous cell carcinoma. 61
24448149 2014
39
Porokeratosis of Mibelli--literature review and a case report. 61
24346913 2013
40
Treatment of porokeratosis of Mibelli with cantharidin. 61
24124851 2013
41
Porokeratosis of Mibelli: Giant variant. 61
23984259 2013
42
[Porokeratosis of Mibelli]. 61
23923745 2013
43
Benign giant cutaneous horn formed by giant porokeratosis of Mibelli with dysplasia. 61
23619455 2013
44
Porokeratosis of Mibelli: a new indication for photodynamic therapy? 61
23102435 2013
45
Circumscribed palmar hypokeratosis -- the first case from south-east Europe. 61
23683485 2013
46
Identification of an interstitial 18p11.32-p11.31 duplication including the EMILIN2 gene in a family with porokeratosis of Mibelli. 61
23593459 2013
47
Isolated single digit Porokeratosis of Mibelli: an unusual case. 61
23122020 2012
48
Porokeratosis in Singapore: an Asian perspective. 61
22571584 2012
49
Porokeratosis palmaris, plantaris et disseminata vs. porokeratosis of Mibelli. 61
21916890 2012
50
Treatment of classic porokeratosis of Mibelli with Q-switched ruby laser. 61
22062326 2012

Variations for Porokeratosis 1, Multiple Types

ClinVar genetic disease variations for Porokeratosis 1, Multiple Types:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PMVK NM_006556.4(PMVK):c.412C>T (p.Arg138Ter)SNV Pathogenic 253041 rs745983207 1:154898860-154898860 1:154926384-154926384
2 PMVK NM_006556.4(PMVK):c.550del (p.Asn183_Leu184insTer)deletion Pathogenic 253042 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 COSM112988842 HRAS skin,genital,carcinoma,squamous cell carcinoma c.182A>T p.Q61L 11:533874-533874 8
2 COSM105721382 skin,genital,carcinoma,squamous cell carcinoma c.182A>T p.Q61L 11:533874-533874 8
3 COSM91331151 skin,genital,carcinoma,squamous cell carcinoma c.182A>T p.Q61L 11:533874-533874 8
4 COSM101967270 skin,genital,carcinoma,squamous cell carcinoma c.182A>T p.Q61L 11:533874-533874 8
5 COSM101951599 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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