MCID: LNR004
MIFTS: 26

Linear Porokeratosis

Categories: Rare diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Linear Porokeratosis

MalaCards integrated aliases for Linear Porokeratosis:

Name: Linear Porokeratosis 19 5
Congenital Facial Linear Porokeratosis 19 71
Porokeratosis, Linear 71

Classifications:



External Ids:

UMLS 71 C0302319 C2931908

Summaries for Linear Porokeratosis

MalaCards based summary: Linear Porokeratosis, also known as congenital facial linear porokeratosis, is related to porokeratosis 1, multiple types and porokeratosis. An important gene associated with Linear Porokeratosis is MVD (Mevalonate Diphosphate Decarboxylase), and among its related pathways/superpathways are Metabolism and Metabolism of steroids. Affiliated tissues include skin and bone, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Reduced mammosphere formation

Related Diseases for Linear Porokeratosis

Diseases related to Linear Porokeratosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 39)
# Related Disease Score Top Affiliating Genes
1 porokeratosis 1, multiple types 31.5 PMVK MVK
2 porokeratosis 29.7 SLC17A9 PMVK MVK MVD FDPS
3 punctate porokeratosis 28.2 SLC17A9 PMVK MVK MVD FDPS
4 porokeratosis 3, multiple types 11.3
5 porokeratosis 7, multiple types 11.3
6 porokeratosis 8, disseminated superficial actinic type 11.2
7 porokeratosis 9, multiple types 11.2
8 porokeratosis 2, palmar, plantar, and disseminated type 10.1
9 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.1
10 skin disease 10.1
11 erythrokeratoderma ''en cocardes'' 10.1
12 darier-white disease 9.9
13 nevus, epidermal 9.9
14 palmoplantar keratoderma, punctate type ii 9.9
15 bardet-biedl syndrome 1 9.9
16 multiple pterygium syndrome, escobar variant 9.9
17 incontinentia pigmenti 9.9
18 basal cell carcinoma 1 9.9
19 nail disorder, nonsyndromic congenital, 9 9.9
20 bardet-biedl syndrome 2 9.9
21 bardet-biedl syndrome 10 9.9
22 bardet-biedl syndrome 11 9.9
23 bardet-biedl syndrome 12 9.9
24 exanthem 9.9
25 penile cancer 9.9
26 plantar wart 9.9
27 keratosis 9.9
28 squamous cell carcinoma 9.9
29 bardet-biedl syndrome 9.9
30 basal cell carcinoma 9.9
31 skin squamous cell carcinoma 9.9
32 lichen planus 9.9
33 inflammatory linear verrucous epidermal nevus 9.9
34 linear lichen planus 9.9
35 penile cancer, adult 9.9
36 pseudoainhum 9.9
37 ck syndrome 9.7 MVK MVD
38 nutritional deficiency disease 9.5 PMVK MVK
39 zellweger syndrome 9.3 PMVK MVK MVD

Graphical network of the top 20 diseases related to Linear Porokeratosis:



Diseases related to Linear Porokeratosis

Symptoms & Phenotypes for Linear Porokeratosis

GenomeRNAi Phenotypes related to Linear Porokeratosis according to GeneCards Suite gene sharing:

25 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.83 MVD
2 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.83 MVD
3 Increased shRNA abundance (Z-score > 2) GR00366-A-139 9.83 MVD
4 Increased shRNA abundance (Z-score > 2) GR00366-A-203 9.83 MVD
5 Increased shRNA abundance (Z-score > 2) GR00366-A-213 9.83 PMVK
6 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.83 MVD
7 Increased shRNA abundance (Z-score > 2) GR00366-A-55 9.83 MVD
8 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.83 MVD
9 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.83 PMVK
10 Increased shRNA abundance (Z-score > 2) GR00366-A-66 9.83 PMVK
11 Increased shRNA abundance (Z-score > 2) GR00366-A-77 9.83 MVD
12 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.83 PMVK
13 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.83 MVD PMVK
14 Increased shRNA abundance (Z-score > 2) GR00366-A-98 9.83 MVD
15 Reduced mammosphere formation GR00396-S 8.92 FDPS MVD MVK PMVK

Drugs & Therapeutics for Linear Porokeratosis

Search Clinical Trials, NIH Clinical Center for Linear Porokeratosis

Genetic Tests for Linear Porokeratosis

Anatomical Context for Linear Porokeratosis

Organs/tissues related to Linear Porokeratosis:

MalaCards : Skin, Bone

Publications for Linear Porokeratosis

Articles related to Linear Porokeratosis:

(show top 50) (show all 127)
# Title Authors PMID Year
1
Second-Hit, Postzygotic PMVK and MVD Mutations in Linear Porokeratosis. 62 5
30942823 2019
2
Two percent lovastatin ointment as a pathogenesis-directed monotherapy for porokeratosis. 5
33005717 2020
3
Inflammatory linear verrucous epidermal nevus (ILVEN) encompasses a spectrum of inflammatory mosaic disorders. 62
35853659 2022
4
Linear porokeratosis of the foot with dermoscopic manifestations: A case report. 62
36387824 2022
5
Generalized Linear Porokeratosis. 62
35134308 2022
6
Assessing Cutaneous Mosaicism at the Molecular Level. 62
35985765 2022
7
Bilateral Linear Porokeratosis Treated With Topical Cholesterol 2%/Lovastatin 2. 62
36060323 2022
8
Hystrix-like linear porokeratosis: a clinicopathological challenge. 62
34176117 2022
9
Generalized Linear Porokeratosis in a Bilateral Distribution: An Unusual Presentation. 62
35779030 2022
10
Photodynamic therapy in pediatric age: Current applications and future trends. 62
36052131 2022
11
Molecular characterization and natural history of linear porokeratosis: A case series. 62
33279647 2021
12
Successful Clearance of Linear Porokeratosis With Aminolevulinic Acid and Pulsed Dye Laser. 62
34448766 2021
13
[Linear porokeratosis with severe itch accompanied by lesional upregulation of interleukin 31, thymic stromal lymphopoietin, and periostin]. 62
34463291 2021
14
Porokeratosis Plantaris, Palmaris et Disseminata Caused by Con- genital Pathogenic Variants in the MVD Gene and Loss of Hetero-zygosity in Affected Skin. 62
33491095 2021
15
Lack of effect of topical statins in linear porokeratosis. 62
32558973 2021
16
Linear porokeratosis with bone abnormalities treated with compounded topical 2% cholesterol/2% lovastatin ointment. 62
33170511 2021
17
Generalized type 2 segmental disseminated superficial actinic porokeratosis coexisted with multiple cutaneous squamous cell carcinomas: Analysis of two cases. 62
33154323 2020
18
[Linear porokeratosis]. 62
32974718 2020
19
Recurrent Squamous Cell Carcinoma Arising Within a Linear Porokeratosis 62
32155019 2020
20
Linear porokeratosis presenting in adulthood: A diagnostic challenge: A case report. 62
32477558 2020
21
Topical cholesterol/lovastatin for the treatment of porokeratosis: A pathogenesis-directed therapy. 62
31449901 2020
22
Clonal Expansion of Second-Hit Cells with Somatic Recombinations or C>T Transitions Form Porokeratosis in MVD or MVK Mutant Heterozygotes. 62
31207227 2019
23
Second-Hit Somatic Mutations in Mevalonate Pathway Genes Underlie Porokeratosis. 62
31753123 2019
24
Linear porokeratosis associated with Bardet-Biedl syndrome: A case report. 62
30793792 2019
25
Generalized linear porokeratosis. 62
29924219 2018
26
Linear porokeratosis associated with multiple squamous cell carcinomas. 62
29232434 2017
27
Dermoscopy in assisting the diagnosis of linear porokeratosis. 62
28557045 2017
28
Linear Malignant Melanoma In Situ: Reports and Review of Cutaneous Malignancies Presenting as Linear Skin Cancer. 62
29159004 2017
29
Linear porokeratosis with multiple squamous cell carcinomas successfully treated by electrochemotherapy. 62
27086492 2016
30
Porokeratosis ptychotropica: a rare manifestation with typical histological exam. 62
27579746 2016
31
Unilateral generalized linear porokeratosis with nail dystrophy. 62
26589366 2016
32
Photoletter to the editor: Response of linear porokeratosis to photodynamic therapy in an 11-year-old girl. 62
26848323 2015
33
Porokeratosis on the scrotum: two cases. 62
25545989 2015
34
Clinical analysis and etiology of porokeratosis. 62
25120591 2014
35
Linear porokeratosis: an unusual presentation. 62
24891690 2014
36
A case of linear porokeratosis treated with photodynamic therapy with confocal microscopy surveillance. 62
24119172 2014
37
Co-existence of porokeratosis variants concurrent with Bowen's disease: two rare cases report. 62
25123017 2014
38
Long-term clearance of linear porokeratosis with tacrolimus, 0.1%, ointment. 62
24553841 2014
39
Giant inflammatory linear verrucous epidermal nevus: successfully treated with full thickness excision and skin grafting. 62
24249899 2013
40
Unilateral linear porokeratosis. 62
24222297 2013
41
Systematized linear porokeratosis: concept of type 2 segmental manifestation implies an increased cancer risk. 62
22779423 2012
42
Giant ulcerating squamous cell carcinoma arising from linear porokeratosis: a case study. 62
23134898 2012
43
Altered gene expression in squamous cell carcinoma arising from congenital unilateral linear porokeratosis. 62
22998543 2012
44
Resident rounds: Part III generalized linear porokeratosis. 62
22648230 2012
45
Coexistence of congenital linear porokeratosis and disseminated superficial porokeratosis. 62
22571580 2012
46
Porokeratosis in Singapore: an Asian perspective. 62
22571584 2012
47
Case for diagnosis. 62
22714773 2012
48
Multiple keratotic papules on palm. 62
22301047 2012
49
[Linear porokeratosis]. 62
22078049 2011
50
Unilateral systematized linear porokeratosis: a report of a rare case. 62
21965869 2011

Variations for Linear Porokeratosis

ClinVar genetic disease variations for Linear Porokeratosis:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PMVK NM_006556.4(PMVK):c.329G>A (p.Arg110Gln) SNV Likely Pathogenic
1344669 GRCh37: 1:154898943-154898943
GRCh38: 1:154926467-154926467
2 PMVK NM_006556.4(PMVK):c.379C>T (p.Gln127Ter) SNV Likely Pathogenic
1344671 GRCh37: 1:154898893-154898893
GRCh38: 1:154926417-154926417
3 MVD NM_002461.3(MVD):c.811_815del (p.Phe271fs) DEL Likely Pathogenic
1344672 GRCh37: 16:88721689-88721693
GRCh38: 16:88655281-88655285
4 MVD NM_002461.3(MVD):c.70+5G>A SNV Likely Pathogenic
1344813 GRCh37: 16:88729414-88729414
GRCh38: 16:88663006-88663006
5 PMVK NM_006556.4(PMVK):c.79G>T (p.Glu27Ter) SNV Likely Pathogenic
1012741 rs373000976 GRCh37: 1:154909083-154909083
GRCh38: 1:154936607-154936607

Expression for Linear Porokeratosis

Search GEO for disease gene expression data for Linear Porokeratosis.

Pathways for Linear Porokeratosis

Pathways related to Linear Porokeratosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.91 PMVK MVK MVD FDPS
2
Show member pathways
11.82 PMVK MVK MVD FDPS
3
Show member pathways
11.23 PMVK MVK MVD FDPS

GO Terms for Linear Porokeratosis

Cellular components related to Linear Porokeratosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peroxisome GO:0005777 9.02 PMVK MVK MVD

Biological processes related to Linear Porokeratosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cholesterol biosynthetic process GO:0006695 9.76 PMVK MVK MVD FDPS
2 lipid metabolic process GO:0006629 9.73 PMVK MVK MVD FDPS
3 isoprenoid biosynthetic process GO:0008299 9.72 MVK MVD FDPS
4 cholesterol metabolic process GO:0008203 9.71 PMVK MVK MVD FDPS
5 steroid metabolic process GO:0008202 9.67 PMVK MVK MVD FDPS
6 steroid biosynthetic process GO:0006694 9.56 PMVK MVK MVD FDPS
7 isopentenyl diphosphate biosynthetic process, mevalonate pathway GO:0019287 9.43 PMVK MVK MVD
8 sterol biosynthetic process GO:0016126 9.02 PMVK MVK MVD FDPS

Sources for Linear Porokeratosis

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....