MCID: PRK001
MIFTS: 45

Porokeratosis malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Porokeratosis

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Sources:
10Disease Ontology, 47Novoseek, 12DISEASES, 36MeSH, 45NIH Rare Diseases, 51Orphanet, 65UMLS, 27ICD10, 29ICD9CM, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Porokeratosis:

Name: Porokeratosis 10 47 12 36
Disseminated Superficial Actinic Porokeratosis 10 45 51
Porokeratosis, Disseminated Superficial Actinic, 1 65
Porokeratosis, Disseminated Superficial Actinic 65
 
Porokeratosis of Mibelli 65
Porokeratosis, Nos 10
Dsap 45

Characteristics:

Orphanet epidemiological data:

51
disseminated superficial actinic porokeratosis:
Inheritance: Autosomal dominant

Classifications:

Orphanet: 51 
Rare skin diseases


External Ids:

Disease Ontology10 DOID:3805
ICD1027 L56.5
ICD9CM29 692.75
MeSH36 D017499
NCIt42 C85019
Orphanet51 79152
ICD10 via Orphanet28 Q82.8
UMLS via Orphanet66 C0265970
UMLS65 C0162839, C0265970, C0949506 C1867981, more

Summaries for Porokeratosis

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NIH Rare Diseases:45 Disseminated superficial actinic porokeratosis (dsap) is a skin condition that causes dry patches. it is characterized by a large number of small, brownish patches with a distinctive border, found most commonly on sun-exposed areas of the skin (particularly the arms and legs). dsap usually starts during the third or fourth decade of life and rarely affects children. lesions usually appear in summer and improve or disappear during winter. while it is usually benign (not cancerous), squamous cell carcinoma or bowen’s disease may occasionally develop within patches. dsap may be inherited in an autosomal dominant matter or may occur sporadically (in people with no family history of dsap). some cases are caused by a change (mutation) in the mvk or sart3 genes. treatment is generally not effective long-term but may include sun protection, topical medications, cryotherapy, and/or photodynamic therapy. last updated: 3/12/2015

MalaCards based summary: Porokeratosis, also known as disseminated superficial actinic porokeratosis, is related to porokeratosis, disseminated superficial actinic 2 and duodenal ulcer, and has symptoms including hyperkeratosis, hypohidrosis and aplasia/hypoplasia of the skin. An important gene associated with Porokeratosis is MVK (Mevalonate Kinase), and among its related pathways are Regulation of cholesterol biosynthesis by SREBP (SREBF) and Terpenoid backbone biosynthesis. Affiliated tissues include skin, endothelial and bone.

Wikipedia:68 Porokeratosis (or parakeratosis) is a specific disorder of keratinization that is characterized... more...

Related Diseases for Porokeratosis

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Graphical network of the top 20 diseases related to Porokeratosis:



Diseases related to porokeratosis

Symptoms for Porokeratosis

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Symptoms:

 51 (show all 8)
  • hypohidrosis/decreased sweating/thermoregulation disorder/heat intolerance
  • skin hypoplasia/aplasia/atrophy
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures
  • follicular/erythematous/edematous papules/milium
  • skin photosensitivity
  • pruritus/itching
  • skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma)
  • autosomal dominant inheritance

HPO human phenotypes related to Porokeratosis:

(show all 8)
id Description Frequency HPO Source Accession
1 hyperkeratosis hallmark (90%) HP:0000962
2 hypohidrosis hallmark (90%) HP:0000966
3 aplasia/hypoplasia of the skin hallmark (90%) HP:0008065
4 pruritus typical (50%) HP:0000989
5 cutaneous photosensitivity typical (50%) HP:0000992
6 abnormality of skin pigmentation typical (50%) HP:0001000
7 aplasia/hypoplasia of the skin typical (50%) HP:0008065
8 neoplasm of the skin occasional (7.5%) HP:0008069

Drugs & Therapeutics for Porokeratosis

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Cytodiagnosis of Basal Cell Carcinoma and Actinic Keratosis Using Papanicolaou and May-grunwald-giemsa Stained Tissue SmearCompletedNCT00218868

Search NIH Clinical Center for Porokeratosis


Cochrane evidence based reviews: porokeratosis

Genetic Tests for Porokeratosis

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Anatomical Context for Porokeratosis

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MalaCards organs/tissues related to Porokeratosis:

33
Skin, Endothelial, Bone, Breast, Thyroid, Prostate, Heart

Animal Models for Porokeratosis or affiliated genes

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Publications for Porokeratosis

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Articles related to Porokeratosis:

(show top 50)    (show all 579)
idTitleAuthorsYear
1
Cavernous hemangioma in unusual location: pterygopalatine fossa. (27117893)
2016
2
Phenotype variations of retinal dystrophies caused by mutations in the RLBP1 gene. (25429852)
2015
3
6]-Shogaol Induces Ca2+ Signals by Activating the TRPV1 Channels in the Rat Insulinoma INS-1E Cells. (24413781)
2014
4
The Relationship of Acute Myocardial Infarction With or Without ST-Segment Elevation and Viscosity. (23742945)
2013
5
Influence of novel supramolecular substance, [2] rotaxane, on the caspase signaling pathway in melanoma and colon cancer cells in vitro. (23739594)
2013
6
SCF promotes dental pulp progenitor migration, neovascularization, and collagen remodeling - potential applications as a homing factor in dental pulp regeneration. (23703692)
2013
7
Proteome profiles of vaginal fluids from women affected by bacterial vaginosis and healthy controls: outcomes of rifaximin treatment. (23798671)
2013
8
Postoperative Complications Leading to Death after Coagulum Pyelolithotomy in a Tetraplegic Patient: Can We Prevent Prolonged Ileus, Recurrent Intestinal Obstruction due to Adhesions Requiring Laparotomies, Chest Infection Warranting Tracheostomy, and Mechanical Ventilation? (23533931)
2013
9
Prevalence and effect of a combined treatment on pneumocystitis pneumonia. (24260824)
2013
10
The presence of ST-elevation in lead aVR predicts significant left main coronary artery stenosis in cardiogenic shock resulting from myocardial infarction: the Manitoba cardiogenic shock registry. (22126854)
2013
11
Radiologic case study. Osteomalacia. (23127434)
2012
12
MicroRNA-34a inhibits the proliferation and metastasis of osteosarcoma cells both in vitro and in vivo. (22457788)
2012
13
Deficiency of Atf3, an adaptive-response gene, protects islets and ameliorates inflammation in a syngeneic mouse transplantation model. (20349223)
2010
14
Serum proteomic profile analysis for endometrial carcinoma detection with MALDI-TOF MS. (22371754)
2010
15
STAT1/IRF-1 signaling pathway mediates the injurious effect of interferon-gamma on oligodendrocyte progenitor cells. (19606498)
2010
16
Tibial hemimelia in one of the identical twins. (20864864)
2010
17
Detection of HPV-DNA by a PCR-based method in formalin-fixed, paraffin-embedded tissue from rare endocervical carcinoma types. (19625948)
2010
18
Thrombin inhibits nuclear factor kappaB and RhoA pathways in cytokine-stimulated vascular endothelial cells when EPCR is occupied by protein C. (19277413)
2009
19
Regulation of C/EBPdelta-dependent transactivation by histone deacetylases in intestinal epithelial cells. (17910034)
2008
20
Screening of mutations and polymorphisms in the glucokinase gene in Czech diabetic and healthy control populations. (18271687)
2008
21
"Prominent ear sign" on diffusion-weighted magnetic resonance imaging in relapsing polychondritis. (18770003)
2008
22
Effect of zoledronic acid on serum angiogenic factors in patients with bone metastases. (18204821)
2008
23
Novel germ cell markers characterize testicular seminoma and fetal testis. (17785371)
2007
24
Stretching to meet needs: integrin-linked kinase and the cardiac pump. (16951248)
2006
25
The range of adaptation by collateral vessels after femoral artery occlusion. (16931799)
2006
26
Inhibition of voltage-gated potassium currents by gambierol in mouse taste cells. (15689421)
2005
27
High-density lipoprotein cholesterol as an indicator of liver function and prognosis in noncholestatic cirrhotics. (15765449)
2005
28
Late gadolinium enhanced cardiovascular magnetic resonance in Becker muscular dystrophy. (15310728)
2004
29
Thrombophilic factors are not the leading cause of thrombosis in BehAset's disease. (15479893)
2004
30
Use of aromatase inhibitors in children with short stature. (16429098)
2004
31
Association of functional polymorphisms of matrix metalloproteinase (MMP)-1 and MMP-3 genes with colorectal cancer. (12432557)
2002
32
Endocervical curettage at conization to predict residual cervical adenocarcinoma in situ. (12468353)
2002
33
Ethanol exerts different effects on myelin basic protein and 2',3'-cyclic nucleotide 3'-phosphodiesterase expression in differentiating CG-4 oligodendrocytes. (11356257)
2001
34
Extensive life-threatening thrombosis in a patient with heparin-induced thrombocytopenia and factor V Leiden mutation. (11532640)
2001
35
Lymphocytic gastritis and coeliac disease: evidence of a positive association. (9659261)
1998
36
Ketamine relaxes airway smooth muscle contracted by endothelin. (9085978)
1997
37
Evolution of salmonella aortitis towards the formation of abdominal aneurysm. (9000397)
1997
38
1,25-dihydroxyvitamin D3 inhibits Osteocalcin expression in mouse through an indirect mechanism. (8995235)
1997
39
The effect of hypothermia on protein synthesis and the expression of immediate early genes following transient cerebral ischemia. (8790800)
1996
40
Evaluation of the activity of different quinolones in the experimental chlamydial salpingitis mouse model. (8549325)
1995
41
Peter B. Samuels Award. Ruptured abdominal aortic aneurysm repair: the financial analysis. (7631941)
1995
42
Combinations of low concentrations of cytokines and acute agonists synergize in increasing the permeability of endothelial monolayers. (8428396)
1993
43
Brain tumors. (1848735)
1991
44
Differential genomic susceptibility in malignancy correlates with changes in ATATAT DNA-binding proteins. (1872827)
1991
45
Critical oxygen levels to avoid corneal edema for daily and extended wear contact lenses. (6592160)
1984
46
Computer tomography in transient global amnesia. (7094948)
1982
47
Hereditary koilonychia. (24537201)
1950
48
A Case of Erysipelas Neonatorum Treated by Antistreptococcic Serum. (20755865)
1895
49
50

Variations for Porokeratosis

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Clinvar genetic disease variations for Porokeratosis:

5
id Gene Variation Type Significance SNP ID Assembly Location
1MVKNM_000431.3(MVK): c.604G> A (p.Gly202Arg)single nucleotide variantPathogenicrs104895301GRCh37Chr 12, 110023903: 110023903
2MVKNM_000431.3(MVK): c.417dupC (p.Gly140Argfs)duplicationPathogenicrs104895373GRCh37Chr 12, 110019245: 110019245

Expression for genes affiliated with Porokeratosis

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Search GEO for disease gene expression data for Porokeratosis.

Pathways for genes affiliated with Porokeratosis

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GO Terms for genes affiliated with Porokeratosis

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

idNameGO IDScoreTop Affiliating Genes
1peroxisomeGO:000577710.1MVD, MVK, PMVK
2cytoplasmGO:00057378.0FDPS, IVL, LOR, PMVK, S100A7, SART3

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

idNameGO IDScoreTop Affiliating Genes
1isopentenyl diphosphate biosynthetic process, mevalonate pathwayGO:001928710.3MVD, PMVK
2isoprenoid biosynthetic processGO:000829910.2MVK, PMVK
3cholesterol biosynthetic processGO:00066959.8FDPS, PMVK
4phosphorylationGO:00163109.5MVK, PMVK

Molecular functions related to Porokeratosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1structural molecule activityGO:00051989.4FLG, IVL, LOR

Sources for Porokeratosis

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet