DSAP
MCID: PRK001
MIFTS: 55

Porokeratosis (DSAP)

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

Aliases & Classifications for Porokeratosis

MalaCards integrated aliases for Porokeratosis:

Name: Porokeratosis 12 58 36 54 43 15 17
Disseminated Superficial Actinic Porokeratosis 12 52 58 36
Porokeratosis, Disseminated Superficial Actinic, 1 71
Porokeratosis, Disseminated Superficial Actinic 71
Porokeratosis of Mibelli 71
Dsap 52

Characteristics:

Orphanet epidemiological data:

58
disseminated superficial actinic porokeratosis
Inheritance: Autosomal dominant; Age of onset: Adult; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:3805
ICD9CM 34 692.75
MeSH 43 D017499
NCIt 49 C85019
SNOMED-CT 67 400080004 41495000
ICD10 32 L56.5
MESH via Orphanet 44 D017499
ICD10 via Orphanet 33 Q82.8
UMLS via Orphanet 72 C0162839 C0265970
UMLS 71 C0162839 C0265970 C0949506 more

Summaries for Porokeratosis

NIH Rare Diseases : 52 Disseminated superficial actinic porokeratosis (DSAP) is a skin condition that causes dry, scaly 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 lower arms and legs). DSAP usually starts during the third or fourth decade of life and rarely affects children. Lesions generally are more prominent in the summer and less prominent in the 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 . There is no standard treatment for DSAP, and treatment is generally not effective long-term. Sun avoidance may reduce the development of new patches. Treatments that have been beneficial in some people include topical imiquimod cream , topical 5-fluorouracil , and topical vitamin D analogs such as tacalcitol and calcipotriol . Other therapies that have been tested with varying results include cryotherapy , electrodessication (using electrical currents to remove patches), laser ablation, and photodynamic therapy .

MalaCards based summary : Porokeratosis, also known as disseminated superficial actinic porokeratosis, is related to porokeratosis 1, multiple types and linear porokeratosis. An important gene associated with Porokeratosis is SLC17A9 (Solute Carrier Family 17 Member 9), and among its related pathways/superpathways are Terpenoid backbone biosynthesis and Regulation of cholesterol biosynthesis by SREBP (SREBF). The drugs Lovastatin and Dihydromevinolin have been mentioned in the context of this disorder. Affiliated tissues include skin, testes and bone, and related phenotypes are hyperkeratosis and porokeratosis

KEGG : 36 Porokeratosis is a disorder of keratinization characterized by atrophic patches surrounded by a ridge of keratin called cornoid lamella. Disseminated superficial actinic porokeratosis (DSAP) is the most common form of porokeratosis. It is induced by exposure to ultraviolet light and usually appears during the third or fourth decade.

Wikipedia : 74 Porokeratosis is a specific disorder of keratinization that is characterized histologically by the... more...

Related Diseases for Porokeratosis

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 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 213)
# Related Disease Score Top Affiliating Genes
1 porokeratosis 1, multiple types 35.2 PMVK MVK
2 linear porokeratosis 34.6 SLC17A9 PMVK MVK MVD FDPS
3 punctate porokeratosis 34.5 SLC17A9 PMVK MVK MVD FDPS
4 keratosis 31.4 IVL FLG FGFR3
5 clear cell acanthoma 30.8 IVL FGFR2
6 acanthoma 30.7 FGFR3 FGFR2
7 dermatitis 30.4 S100A7 LORICRIN IVL FLG
8 discoid lupus erythematosus 30.3 IVL FLG
9 skin disease 30.3 S100A7 LORICRIN IVL FLG FGFR3 FGFR2
10 nevus, epidermal 30.2 IVL FGFR3 FGFR2
11 epidermolysis bullosa 30.2 LORICRIN IVL FLG
12 epidermolytic hyperkeratosis 30.2 LORICRIN IVL FLG
13 dermatitis, atopic 29.9 S100A7 LORICRIN IVL FLG
14 porokeratosis 3, multiple types 12.9
15 porokeratosis 7, multiple types 12.8
16 porokeratosis 8, disseminated superficial actinic type 12.8
17 porokeratosis 9, multiple types 12.8
18 porokeratosis 2, palmar, plantar, and disseminated type 12.8
19 porokeratosis 4, disseminated superficial actinic type 12.7
20 porokeratosis 5, disseminated superficial actinic type 12.7
21 porokeratosis 6, multiple types 12.7
22 cdags syndrome 12.2
23 genetic porokeratosis 12.1
24 palmoplantar keratoderma, punctate type ii 11.8
25 punctate palmoplantar keratoderma 11.2
26 squamous cell carcinoma 10.6
27 pustulosis of palm and sole 10.5
28 psoriasis 10.5
29 myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency 10.5 MVK FDPS
30 pelizaeus-merzbacher disease 10.5 PMVK MVK MVD
31 erythrokeratoderma ''en cocardes'' 10.5
32 fgfr craniosynostosis syndromes 10.4 FGFR3 FGFR2
33 hemifacial hyperplasia 10.4 FGFR3 FGFR2
34 plagiocephaly 10.4 FGFR3 FGFR2
35 skin carcinoma 10.4
36 syndromic craniosynostosis 10.4 FGFR3 FGFR2
37 testicular spermatocytic seminoma 10.4 FGFR3 FGFR2
38 hypertelorism, microtia, facial clefting syndrome 10.4 FGFR3 FGFR2
39 bowen's disease 10.4
40 psoriasis 4 10.4 S100A7 LORICRIN
41 luteoma 10.3 FGFR3 FGFR2
42 erythrokeratoderma 10.3 LORICRIN IVL FLG
43 stomach carcinoma in situ 10.3 LORICRIN IVL FLG
44 irritant dermatitis 10.3 LORICRIN IVL FLG
45 dermatitis, atopic, 2 10.3 LORICRIN FLG
46 ichthyosis, congenital, autosomal recessive 4b 10.3 LORICRIN IVL FLG
47 actinic keratosis 10.3
48 amyloidosis 10.3
49 ichthyosis vulgaris 10.3 LORICRIN IVL FLG
50 molluscum contagiosum 10.3 LORICRIN IVL FLG

Graphical network of the top 20 diseases related to Porokeratosis:



Diseases related to Porokeratosis

Symptoms & Phenotypes for Porokeratosis

Human phenotypes related to Porokeratosis:

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 porokeratosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0200044
3 pruritus 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0000989
4 cutaneous photosensitivity 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000992
5 abnormality of skin pigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0001000
6 dermal atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0004334
7 squamous cell carcinoma of the skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0006739
8 squamous cell carcinoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002860

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 8.92 FGFR2 FGFR3 MVK PMVK

Drugs & Therapeutics for Porokeratosis

Drugs for Porokeratosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lovastatin Approved, Investigational Phase 1, Phase 2 75330-75-5 53232
2 Dihydromevinolin Phase 1, Phase 2
3 Hypolipidemic Agents Phase 1, Phase 2
4 Lipid Regulating Agents Phase 1, Phase 2
5 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 1, Phase 2
6 Anticholesteremic Agents Phase 1, Phase 2
7 L 647318 Phase 1, Phase 2
8 Antimetabolites Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Topical Treatment for Superficial Disseminated Actinic Porokeratosis: A Single-Blinded Comparison Between Lovastatin/Cholesterol and Lovastatin Not yet recruiting NCT04359823 Phase 1, Phase 2 Lovastatin 2%, 2% Cholesterol Cream;Lovastatin 2%
2 Cytodiagnosis of Basal Cell Carcinoma and Actinic Keratosis Using Papanicolaou and May-grunvald-giemsa Stained Cutaneous Tissue Smear in Relation to Photodynamic Therapy Completed NCT00218868
3 The International Survey of Acute Coronary Syndromes- ARCHIVES Recruiting NCT04008173

Search NIH Clinical Center for Porokeratosis

Cochrane evidence based reviews: porokeratosis

Genetic Tests for Porokeratosis

Anatomical Context for Porokeratosis

MalaCards organs/tissues related to Porokeratosis:

40
Skin, Testes, Bone, Bone Marrow, T Cells, Colon, Kidney

Publications for Porokeratosis

Articles related to Porokeratosis:

(show top 50) (show all 1056)
# Title Authors PMID Year
1
Genomic variations of the mevalonate pathway in porokeratosis. 6 61
26202976 2015
2
Exome sequencing identifies SLC17A9 pathogenic gene in two Chinese pedigrees with disseminated superficial actinic porokeratosis. 61 6
25180256 2014
3
A novel locus for disseminated superficial actinic porokeratosis maps to chromosome 16q24.1-24.3. 6 61
21161278 2011
4
Expression patterns of loricrin in dermatological disorders. 54 61
8434728 1993
5
Carcinogenesis in porokeratosis. Evidence for a role relating to chronic growth activation of keratinocytes. 61 54
1719839 1991
6
[Dermoscopy of disseminated superficial actinic porokeratosis]. 61
32505374 2020
7
Lack of effect of topical statins in linear porokeratosis. 61
32558973 2020
8
Segmental porokeratosis responding to methyl aminolevulinate photodynamic therapy. 61
32212271 2020
9
Improvements in two subtypes of porokeratosis by superficial X-ray radiotherapy. 61
32558081 2020
10
Looking horizontally at disseminated superficial actinic porokeratosis: Correlations between in-vivo reflectance confocal microscopy and histopathology. 61
31773809 2020
11
Online Pearls: The Appearance or Disappearance of the Cornoid Lamella Due to Level and Direction of Sectioning in Porokeratosis. 61
32439458 2020
12
Genito-gluteal porokeratosis: an unusual presentation treated successfully with the novel combination of imiquimod 5% cream and photodynamic therapy. 61
32445269 2020
13
A rare case of multiple variants of porokeratosis in the same patient: The clue of dermoscopy for diagnosis and therapeutical update. 61
32068936 2020
14
Visual Dermatology: Porokeratosis of Mibelli. 61
32426994 2020
15
Multiple porokeratomas (porokeratotic acanthoma) coexisting with disseminated superficial porokeratosis: Clinical, dermoscopic and pathological observations, and review of published work. 61
32415691 2020
16
Eruptive porokeratosis during pembrolizumab treatment of invasive cutaneous squamous cell carcinoma. 61
31670381 2020
17
Porokeratosis: A Review of Its Pathophysiology, Clinical Manifestations, Diagnosis, and Treatment. 61
32401728 2020
18
Effects of mevalonate kinase interference on cell differentiation, apoptosis, prenylation and geranylgeranylation of human keratinocytes are attenuated by farnesyl pyrophosphate or geranylgeranyl pyrophosphate. 61
32256770 2020
19
Pigmented porokeratosis with dermal deposits of amyloid: the different chromatic features. 61
29998707 2020
20
Recurrent Squamous Cell Carcinoma Arising Within a Linear Porokeratosis 61
32155019 2020
21
Squamous cell carcinoma arising from giant porokeratosis and rare postoperative recurrence and metastasis: A case report. 61
31914072 2020
22
Linear porokeratosis presenting in adulthood: A diagnostic challenge: A case report. 61
32477558 2020
23
Topical cholesterol/lovastatin for the treatment of porokeratosis: A pathogenesis-directed therapy. 61
31449901 2020
24
Cluster of Vacuolated Spinous Keratinocytes: A Clue to Cornoid Lamellation and a Case of Porokeratosis Disseminata. 61
32000214 2020
25
Clinical course of porokeratosis ptychotropica over 7 years in an otherwise healthy child. 61
31811774 2020
26
Clonal Expansion of Second-Hit Cells with Somatic Recombinations or C>T Transitions Form Porokeratosis in MVD or MVK Mutant Heterozygotes. 61
31207227 2019
27
Two novel SSH1 mutations in Chinese patients with disseminated superficial actinic porokeratosis and immunohistochemical analysis of anti-Slingshot homolog 1 antibody in one typical patient. 61
31310399 2019
28
Second-Hit Somatic Mutations in Mevalonate Pathway Genes Underlie Porokeratosis. 61
31753123 2019
29
Use of Topical and Systemic Retinoids in Solid Organ Transplant Recipients: Update and Review of the Current Literature. 61
31403546 2019
30
A precancerous skin lesion that is often misdiagnosed. 61
31722456 2019
31
Successful Treatment of Porokeratosis With Ablative Fractional Carbon Dioxide Laser and Vitamin C, E, and Ferulic Acid Serum 61
31741362 2019
32
Pink verrucous plaque in a man with systemic mastocytosis. 61
31735012 2019
33
[Eruptive disseminated superficial porokeratosis associated with acute hepatitis E]. 61
31326131 2019
34
Superficial shaving combined with photodynamic therapy for treating disseminated superficial actinic porokeratosis: A case report. 61
31055089 2019
35
Novel mutation for disseminated superficial actinic porokeratosis and its functional impact at the protein level. 61
31340066 2019
36
Novel mutations in mevalonate kinase cause disseminated superficial actinic porokeratosis. 61
30597534 2019
37
An unusual spiculated presentation of follicular porokeratosis. 61
31450276 2019
38
Eruptive porokeratosis under nivolumab adjuvant treatment for melanoma. 61
30810218 2019
39
Porokeratosis Ptychotropica. 61
31090870 2019
40
Zebras in Foreskin Dermatopathology: A Review. 61
31149956 2019
41
A novel premature termination mutation in FDPS in a Chinese family with disseminated superficial actinic porokeratosis. 61
30561051 2019
42
Ink-enhanced dermoscopy is a useful tool to differentiate acquired solitary plaque porokeratosis from other scaly lesions. 61
29221722 2019
43
Molecular Corroboration of Type 2 Segmental Mosaicism in Various Types of Porokeratosis. 61
30942834 2019
44
Second-Hit, Postzygotic PMVK and MVD Mutations in Linear Porokeratosis. 61
30942823 2019
45
Porokeratosis-Like Grover Disease: More Than an Acantholytic Pattern. 61
30409379 2019
46
Linear porokeratosis associated with Bardet-Biedl syndrome: A case report. 61
30793792 2019
47
Skin Cancer Associated Genodermatoses: A Literature Review. 61
30653245 2019
48
Familial or sporadic porokeratosis as an autoinflammatory keratinization disease. 61
30264904 2019
49
Effective treatment of disseminated superficial actinic porokeratosis with chemical peels - customary treatment for a rare disease. 61
31018713 2019
50
Multiple flat-topped scaly violaceous papules. 61
30982308 2019

Variations for Porokeratosis

Cosmic variations for Porokeratosis:

9 (show top 50) (show all 520)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM88173893 TP53 skin,leg,carcinoma,squamous cell carcinoma c.987C>A p.T329= 17:7673541-7673541 4
2 COSM87897745 TP53 skin,leg,carcinoma,squamous cell carcinoma c.524G>A p.R175H 17:7675088-7675088 4
3 COSM87934170 TP53 skin,leg,carcinoma,squamous cell carcinoma c.740A>T p.N247I 17:7674223-7674223 4
4 COSM87898709 TP53 skin,arm,carcinoma,squamous cell carcinoma c.742C>T p.R248W 17:7674221-7674221 4
5 COSM88003733 TP53 skin,arm,carcinoma,squamous cell carcinoma c.1096T>G p.S366A 17:7670613-7670613 4
6 COSM87906968 TP53 skin,leg,carcinoma,squamous cell carcinoma c.833C>T p.P278L 17:7673787-7673787 4
7 COSM87898758 TP53 skin,leg,carcinoma,squamous cell carcinoma c.707A>G p.Y236C 17:7674256-7674256 4
8 COSM87898444 TP53 skin,leg,carcinoma,squamous cell carcinoma c.536A>G p.H179R 17:7675076-7675076 4
9 COSM87898836 TP53 skin,leg,carcinoma,squamous cell carcinoma c.560-1G>A p.? 17:7674972-7674972 4
10 COSM87899497 TP53 skin,leg,carcinoma,squamous cell carcinoma c.586C>T p.R196* 17:7674945-7674945 4
11 COSM87961721 TP53 skin,leg,carcinoma,squamous cell carcinoma c.702C>A p.Y234* 17:7674261-7674261 4
12 COSM87933373 TP53 skin,arm,carcinoma,squamous cell carcinoma c.859G>A p.E287K 17:7673761-7673761 4
13 COSM87925339 TP53 skin,leg,carcinoma,squamous cell carcinoma c.863A>G p.N288S 17:7673757-7673757 4
14 COSM87908365 TP53 skin,arm,carcinoma,squamous cell carcinoma c.454C>T p.P152S 17:7675158-7675158 4
15 COSM87897737 TP53 skin,leg,carcinoma,squamous cell carcinoma c.536A>C p.H179P 17:7675076-7675076 4
16 COSM87906137 TP53 skin,leg,carcinoma,squamous cell carcinoma c.260C>A p.P87Q 17:7676109-7676109 4
17 COSM88388711 NOTCH2 skin,arm,carcinoma,squamous cell carcinoma c.337C>T p.R113* 1:120005407-120005407 4
18 COSM88399190 NOTCH2 skin,leg,carcinoma,squamous cell carcinoma c.3052A>G p.T1018A 1:119940686-119940686 4
19 COSM88396973 NOTCH2 skin,leg,carcinoma,squamous cell carcinoma c.5449G>A p.D1817N 1:119920259-119920259 4
20 COSM88399645 NOTCH2 skin,arm,carcinoma,squamous cell carcinoma c.1294A>G p.K432E 1:119967592-119967592 4
21 COSM88393634 NOTCH2 skin,leg,carcinoma,squamous cell carcinoma c.6449C>T p.P2150L 1:119916273-119916273 4
22 COSM88402353 NOTCH2 skin,leg,carcinoma,squamous cell carcinoma c.3052A>C p.T1018P 1:119940686-119940686 4
23 COSM88400863 NOTCH2 skin,leg,carcinoma,squamous cell carcinoma c.2867A>G p.E956G 1:119941640-119941640 4
24 COSM88394878 NOTCH2 skin,leg,carcinoma,squamous cell carcinoma c.1652C>T p.P551L 1:119965482-119965482 4
25 COSM88394872 NOTCH2 skin,leg,carcinoma,squamous cell carcinoma c.2521C>T p.P841S 1:119949085-119949085 4
26 COSM88400858 NOTCH2 skin,leg,carcinoma,squamous cell carcinoma c.3358T>G p.C1120G 1:119937446-119937446 4
27 COSM88400867 NOTCH2 skin,leg,carcinoma,squamous cell carcinoma c.823T>C p.C275R 1:119987011-119987011 4
28 COSM88407026 NOTCH2 skin,leg,carcinoma,squamous cell carcinoma c.6951A>C p.Q2317H 1:119915771-119915771 4
29 COSM88402854 NOTCH2 skin,arm,carcinoma,squamous cell carcinoma c.5923G>A p.D1975N 1:119918412-119918412 4
30 COSM88399637 NOTCH2 skin,arm,carcinoma,squamous cell carcinoma c.1778G>A p.C593Y 1:119963711-119963711 4
31 COSM88394867 NOTCH2 skin,leg,carcinoma,squamous cell carcinoma c.4570A>G p.S1524G 1:119923926-119923926 4
32 COSM87645522 NOTCH1 skin,leg,carcinoma,squamous cell carcinoma c.7574C>T p.P2525L 9:136496165-136496165 4
33 COSM87641461 NOTCH1 skin,arm,carcinoma,squamous cell carcinoma c.1093C>T p.R365C 9:136518597-136518597 4
34 COSM87675375 NOTCH1 skin,leg,carcinoma,squamous cell carcinoma c.2747G>A p.C916Y 9:136509955-136509955 4
35 COSM87695035 NOTCH1 skin,leg,carcinoma,squamous cell carcinoma c.498C>G p.C166W 9:136523094-136523094 4
36 COSM87652764 NOTCH1 skin,leg,carcinoma,squamous cell carcinoma c.5065T>C p.S1689P 9:136503284-136503284 4
37 COSM87675387 NOTCH1 skin,leg,carcinoma,squamous cell carcinoma c.2312T>C p.M771T 9:136513433-136513433 4
38 COSM87662526 NOTCH1 skin,leg,carcinoma,squamous cell carcinoma c.5051A>G p.Q1684R 9:136503298-136503298 4
39 COSM87658653 NOTCH1 skin,arm,carcinoma,squamous cell carcinoma c.6121G>A p.V2041M 9:136498958-136498958 4
40 COSM87662576 NOTCH1 skin,leg,carcinoma,squamous cell carcinoma c.975C>G p.N325K 9:136518715-136518715 4
41 COSM87676963 NOTCH1 skin,leg,carcinoma,squamous cell carcinoma c.5390T>C p.L1797P 9:136502083-136502083 4
42 COSM87679962 NOTCH1 skin,arm,carcinoma,squamous cell carcinoma c.464G>T p.C155F 9:136523128-136523128 4
43 COSM87662514 NOTCH1 skin,leg,carcinoma,squamous cell carcinoma c.5414T>C p.L1805P 9:136502059-136502059 4
44 COSM87678610 NOTCH1 skin,leg,carcinoma,squamous cell carcinoma c.1871C>A p.A624D 9:136515515-136515515 4
45 COSM87645904 NOTCH1 skin,leg,carcinoma,squamous cell carcinoma c.5479G>T p.E1827* 9:136501907-136501907 4
46 COSM87645884 NOTCH1 skin,arm,carcinoma,squamous cell carcinoma c.1270G>A p.E424K 9:136517923-136517923 4
47 COSM87694991 NOTCH1 skin,leg,carcinoma,squamous cell carcinoma c.5425A>G p.N1809D 9:136502048-136502048 4
48 COSM87675362 NOTCH1 skin,leg,carcinoma,squamous cell carcinoma c.7573C>T p.P2525S 9:136496166-136496166 4
49 COSM87695021 NOTCH1 skin,leg,carcinoma,squamous cell carcinoma c.1016G>T p.C339F 9:136518674-136518674 4
50 COSM87662541 NOTCH1 skin,leg,carcinoma,squamous cell carcinoma c.4565A>C p.Q1522P 9:136505331-136505331 4

Expression for Porokeratosis

Search GEO for disease gene expression data for Porokeratosis.

Pathways for Porokeratosis

Pathways related to Porokeratosis according to KEGG:

36
# Name Kegg Source Accession
1 Terpenoid backbone biosynthesis hsa00900

GO Terms for Porokeratosis

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

# Name GO ID Score Top Affiliating Genes
1 collagen-containing extracellular matrix GO:0062023 9.46 S100A7 FLG FGFR2 EMILIN2
2 peroxisome GO:0005777 9.13 PMVK MVK MVD
3 cornified envelope GO:0001533 8.8 LORICRIN IVL FLG

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 steroid metabolic process GO:0008202 9.78 PMVK MVK MVD FDPS
2 cholesterol metabolic process GO:0008203 9.73 PMVK MVK MVD FDPS
3 steroid biosynthetic process GO:0006694 9.71 PMVK MVK MVD FDPS
4 cornification GO:0070268 9.7 LORICRIN IVL FLG
5 keratinocyte differentiation GO:0030216 9.67 S100A7 LORICRIN IVL FLG
6 peptide cross-linking GO:0018149 9.63 LORICRIN IVL FLG
7 cholesterol biosynthetic process GO:0006695 9.62 PMVK MVK MVD FDPS
8 regulation of cholesterol biosynthetic process GO:0045540 9.56 PMVK MVK MVD FDPS
9 positive regulation of phospholipase activity GO:0010518 9.51 FGFR3 FGFR2
10 endochondral bone growth GO:0003416 9.49 FGFR3 FGFR2
11 sterol biosynthetic process GO:0016126 9.46 PMVK MVK MVD FDPS
12 isopentenyl diphosphate biosynthetic process, mevalonate pathway GO:0019287 9.13 PMVK MVK MVD
13 isoprenoid biosynthetic process GO:0008299 8.92 PMVK MVK MVD FDPS

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

# Name GO ID Score Top Affiliating Genes
1 fibroblast growth factor binding GO:0017134 9.26 FGFR3 FGFR2
2 transition metal ion binding GO:0046914 9.16 S100A7 FLG
3 structural constituent of epidermis GO:0030280 8.96 LORICRIN FLG
4 fibroblast growth factor-activated receptor activity GO:0005007 8.62 FGFR3 FGFR2

Sources for Porokeratosis

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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