DSAP
MCID: PRK001
MIFTS: 53

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 41495000 80432009
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). 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 210)
# Related Disease Score Top Affiliating Genes
1 porokeratosis 1, multiple types 35.2 PMVK MVK
2 linear porokeratosis 34.5 SLC17A9 PMVK MVK MVD FDPS
3 punctate porokeratosis 34.4 SLC17A9 PMVK MVK MVD FDPS
4 keratosis 31.3 IVL FLG FGFR3
5 clear cell acanthoma 30.4 IVL FLG FGFR2
6 dermatitis 30.3 S100A7 LORICRIN IVL FLG
7 discoid lupus erythematosus 30.2 IVL FLG
8 nevus, epidermal 30.1 IVL FGFR3 FGFR2
9 epidermolysis bullosa 30.1 LORICRIN IVL FLG
10 epidermolytic hyperkeratosis 30.1 LORICRIN IVL FLG
11 porokeratosis 3, multiple types 12.9
12 porokeratosis 7, multiple types 12.8
13 porokeratosis 8, disseminated superficial actinic type 12.8
14 porokeratosis 9, multiple types 12.8
15 porokeratosis 2, palmar, plantar, and disseminated type 12.8
16 porokeratosis 4, disseminated superficial actinic type 12.7
17 porokeratosis 5, disseminated superficial actinic type 12.7
18 porokeratosis 6, multiple types 12.7
19 cdags syndrome 12.2
20 genetic porokeratosis 12.1
21 palmoplantar keratoderma, punctate type ii 11.8
22 punctate palmoplantar keratoderma 11.2
23 squamous cell carcinoma 10.6
24 pustulosis of palm and sole 10.5
25 psoriasis 10.5
26 erythrokeratoderma ''en cocardes'' 10.5
27 myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency 10.4 MVK FDPS
28 hypomyelinating leukodystrophy 10.4 PMVK MVK MVD
29 pelizaeus-merzbacher disease 10.4 PMVK MVK MVD FDPS
30 fgfr-related craniosynostosis syndromes 10.4 FGFR3 FGFR2
31 hemifacial hyperplasia 10.4 FGFR3 FGFR2
32 skin carcinoma 10.4
33 skin disease 10.4
34 plagiocephaly 10.4 FGFR3 FGFR2
35 bowen's disease 10.4
36 syndromic craniosynostosis 10.3 FGFR3 FGFR2
37 osteoglophonic dysplasia 10.3 FGFR3 FGFR2
38 testicular spermatocytic seminoma 10.3 FGFR3 FGFR2
39 actinic keratosis 10.3
40 amyloidosis 10.3
41 hypertelorism, microtia, facial clefting syndrome 10.3 FGFR3 FGFR2
42 lichen planus 10.3
43 erythrokeratoderma 10.3 LORICRIN IVL FLG
44 irritant dermatitis 10.3 LORICRIN IVL FLG
45 luteoma 10.3 FGFR3 FGFR2
46 ichthyosis, congenital, autosomal recessive 4b 10.3 LORICRIN IVL FLG
47 ichthyosis vulgaris 10.2 LORICRIN IVL FLG
48 molluscum contagiosum 10.2 LORICRIN IVL FLG
49 autoimmune disease 10.2
50 exanthem 10.2

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 Increased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 8.92 FGFR2 FGFR3 MVK PMVK

Drugs & Therapeutics for Porokeratosis

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
2 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, T Cells, Colon, Kidney, Liver

Publications for Porokeratosis

Articles related to Porokeratosis:

(show top 50) (show all 1043)
# Title Authors PMID Year
1
Genomic variations of the mevalonate pathway in porokeratosis. 61 6
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. 61 6
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. 54 61
1719839 1991
6
Squamous cell carcinoma arising from giant porokeratosis and rare postoperative recurrence and metastasis: A case report. 61
31914072 2020
7
Topical cholesterol/lovastatin for the treatment of porokeratosis: A pathogenesis-directed therapy. 61
31449901 2020
8
Cluster of Vacuolated Spinous Keratinocytes: A Clue to Cornoid Lamellation and a Case of Porokeratosis Disseminata. 61
32000214 2020
9
Clinical course of porokeratosis ptychotropica over 7 years in an otherwise healthy child. 61
31811774 2020
10
Second-Hit Somatic Mutations in Mevalonate Pathway Genes Underlie Porokeratosis. 61
31753123 2019
11
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
12
Clonal Expansion of Second-Hit Cells with Somatic Recombinations or C>T Transitions Form Porokeratosis in MVD or MVK Mutant Heterozygotes. 61
31207227 2019
13
Use of Topical and Systemic Retinoids in Solid Organ Transplant Recipients: Update and Review of the Current Literature. 61
31403546 2019
14
A precancerous skin lesion that is often misdiagnosed. 61
31722456 2019
15
Looking horizontally at disseminated superficial actinic porokeratosis: Correlations between in-vivo reflectance confocal microscopy and histopathology. 61
31773809 2019
16
Successful Treatment of Porokeratosis With Ablative Fractional Carbon Dioxide Laser and Vitamin C, E, and Ferulic Acid Serum 61
31741362 2019
17
Pink verrucous plaque in a man with systemic mastocytosis. 61
31735012 2019
18
Eruptive porokeratosis during pembrolizumab treatment of invasive cutaneous squamous cell carcinoma. 61
31670381 2019
19
[Eruptive disseminated superficial porokeratosis associated with acute hepatitis E]. 61
31326131 2019
20
Superficial shaving combined with photodynamic therapy for treating disseminated superficial actinic porokeratosis: A case report. 61
31055089 2019
21
Novel mutation for disseminated superficial actinic porokeratosis and its functional impact at the protein level. 61
31340066 2019
22
Novel mutations in mevalonate kinase cause disseminated superficial actinic porokeratosis. 61
30597534 2019
23
An unusual spiculated presentation of follicular porokeratosis. 61
31450276 2019
24
Eruptive porokeratosis under nivolumab adjuvant treatment for melanoma. 61
30810218 2019
25
Porokeratosis Ptychotropica. 61
31090870 2019
26
Zebras in Foreskin Dermatopathology: A Review. 61
31149956 2019
27
A novel premature termination mutation in FDPS in a Chinese family with disseminated superficial actinic porokeratosis. 61
30561051 2019
28
Ink-enhanced dermoscopy is a useful tool to differentiate acquired solitary plaque porokeratosis from other scaly lesions. 61
29221722 2019
29
Molecular Corroboration of Type 2 Segmental Mosaicism in Various Types of Porokeratosis. 61
30942834 2019
30
Second-Hit, Postzygotic PMVK and MVD Mutations in Linear Porokeratosis. 61
30942823 2019
31
Porokeratosis-Like Grover Disease: More Than an Acantholytic Pattern. 61
30409379 2019
32
Linear porokeratosis associated with Bardet-Biedl syndrome: A case report. 61
30793792 2019
33
Skin Cancer Associated Genodermatoses: A Literature Review. 61
30653245 2019
34
Familial or sporadic porokeratosis as an autoinflammatory keratinization disease. 61
30264904 2019
35
Effective treatment of disseminated superficial actinic porokeratosis with chemical peels - customary treatment for a rare disease. 61
31018713 2019
36
Multiple flat-topped scaly violaceous papules. 61
30982308 2019
37
Porokeratosis Ptychotropica on the Penis and Scrotum: A Case Report. 61
30328473 2019
38
Image Gallery: A case of porokeratosis ptychotropica. 61
30604535 2019
39
A case of bullous eruptive disseminated porokeratosis. 61
30187499 2018
40
Disseminated filiform hyperkeratosis - a variant of porokeratosis? 61
29706025 2018
41
Exclusive Facial Actinic Porokeratosis. 61
30505798 2018
42
Improved effect on 2 cases of disseminated superficial actinic porokeratosis with daylight photodynamic therapy. 61
30076993 2018
43
Erratum: Disseminated Superficial Actinic Porokeratosis in a Patient with Psoriasis, after Long-Term Narrowband Ultraviolet B Phototherapy. 61
29983490 2018
44
Mutations in mevalonate pathway genes in patients with familial or sporadic porokeratosis. 61
29722423 2018
45
Pigmented porokeratosis with dermal deposits of amyloid: the different chromatic features. 61
29998707 2018
46
A Case of Eruptive Disseminated Porokeratosis in a Cancer Patient after Trastuzumab and Exemestane Treatment: Cancer Related or Drug Induced Phenomenon? 61
29221608 2018
47
Generalized linear porokeratosis. 61
29924219 2018
48
Inflammatory disseminated superficial porokeratosis successfully controlled with a combination of topical diclofenac gel and systemic etretinate. 61
29194784 2018
49
Novel mevalonate kinase missense mutation in a patient with disseminated superficial actinic porokeratosis. 61
29693064 2018
50
Giant Porokeratosis With Malignant Transformation to Squamous Cell Carcinoma. 61
29293104 2018

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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