POROK3
MCID: PRK080
MIFTS: 22

Porokeratosis 3, Multiple Types (POROK3)

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

Aliases & Classifications for Porokeratosis 3, Multiple Types

MalaCards integrated aliases for Porokeratosis 3, Multiple Types:

Name: Porokeratosis 3, Multiple Types 57 75
Porokeratosis, Disseminated Superficial Actinic, 1 57 75 73
Porokeratosis, Disseminated Superficial Actinic 1 53 29 6
Dsap1 57 53 75
Porok3 57 75
Porokeratosis, Disseminated Superficial Actinic, 1; Dsap1 57
Porokeratosis 3, Disseminated Superficial Actinic Type 75
Porokeratosis 3, Disseminated Superficial Actinic 13
Disseminated Superficial Actinic Porokeratosis 1 75
Porokeratosis, Type 3, Multiple Types ) 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
intrafamilial variability
onset of lesions usually in first through fourth decades of life, but may occur as late as the seventh decade


HPO:

32
porokeratosis 3, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 175900
MedGen 42 C1867981
MeSH 44 D017499
UMLS 73 C1867981

Summaries for Porokeratosis 3, Multiple Types

OMIM : 57 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 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 disseminated superficial actinic porokeratosis (DSAP), nonactinic disseminated superficial porokeratosis (DSP), porokeratosis of Mibelli, giant plaque of porokeratosis ptychotropica, hyperkeratotic porokeratosis, and linear porokeratosis. The preferred title of this entry was formerly 'Porokeratosis 3, Disseminated Superficial Actinic Type; POROK3.' Disseminated superficial actinic porokeratosis is the most common subtype of porokeratosis. It is characterized by multiple small, annular, anhidrotic, keratotic lesions that are located predominantly on sun-exposed areas of the skin, such as the face, neck, and distal limbs. The lesions typically begin to develop in adolescence and reach near-complete penetrance by the third or fourth decade of life (summary by Wu et al., 2004 and Zhang et al., 2012). For a discussion of genetic heterogeneity of porokeratosis, see 175800. (175900)

MalaCards based summary : Porokeratosis 3, Multiple Types, also known as porokeratosis, disseminated superficial actinic, 1, is related to porokeratosis. An important gene associated with Porokeratosis 3, Multiple Types is MVK (Mevalonate Kinase). Affiliated tissues include skin, and related phenotypes are parakeratosis and nail dystrophy

UniProtKB/Swiss-Prot : 75 Porokeratosis 3, 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.

Related Diseases for Porokeratosis 3, 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 3, Multiple Types via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 porokeratosis 11.6

Symptoms & Phenotypes for Porokeratosis 3, Multiple Types

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
porokeratosis of mibelli
hyperkeratotic porokeratosis
small, annular, anhidrotic keratotic lesions located predominantly on sun-exposed areas
central atrophic area with peripheral keratotic ridge
disseminated superficial actinic porokeratosis
more
Skin Nails Hair Nails:
nail dystrophy (in some patients)

Skin Nails Hair Skin Histology:
epidermal atrophy
vertical columns of parakeratosis (cornoid lamella) overlying absent or reduced granular layer with dyskeratotic cells
nonspecific perivascular infiltrate of chronic inflammatory cells


Clinical features from OMIM:

175900

Human phenotypes related to Porokeratosis 3, Multiple Types:

32
# Description HPO Frequency HPO Source Accession
1 parakeratosis 32 HP:0001036
2 nail dystrophy 32 occasional (7.5%) HP:0008404
3 porokeratosis 32 HP:0200044

Drugs & Therapeutics for Porokeratosis 3, Multiple Types

Search Clinical Trials , NIH Clinical Center for Porokeratosis 3, Multiple Types

Genetic Tests for Porokeratosis 3, Multiple Types

Genetic tests related to Porokeratosis 3, Multiple Types:

# Genetic test Affiliating Genes
1 Porokeratosis, Disseminated Superficial Actinic 1 29 MVK

Anatomical Context for Porokeratosis 3, Multiple Types

MalaCards organs/tissues related to Porokeratosis 3, Multiple Types:

41
Skin

Publications for Porokeratosis 3, Multiple Types

Variations for Porokeratosis 3, Multiple Types

UniProtKB/Swiss-Prot genetic disease variations for Porokeratosis 3, Multiple Types:

75
# Symbol AA change Variation ID SNP ID
1 MVK p.Gly202Arg VAR_010962 rs104895301
2 MVK p.Gly12Arg VAR_075036
3 MVK p.Leu41Pro VAR_075037 rs397514571
4 MVK p.Leu255Pro VAR_075038 rs397514570
5 MVK p.Leu279Pro VAR_075039
6 MVK p.Tyr291Asp VAR_075040
7 MVK p.His312Arg VAR_075041
8 MVK p.Phe365Ser VAR_075042 rs398122911
9 MVK p.Gly376Ser VAR_075043 rs971159663

ClinVar genetic disease variations for Porokeratosis 3, Multiple Types:

6 (show top 50) (show all 76)
# Gene Variation Type Significance SNP ID Assembly Location
1 SART3 NM_014706.3(SART3): c.1771G> A (p.Val591Met) single nucleotide variant Uncertain significance rs118203954 GRCh37 Chromosome 12, 108924063: 108924063
2 SART3 NM_014706.3(SART3): c.1771G> A (p.Val591Met) single nucleotide variant Uncertain significance rs118203954 GRCh38 Chromosome 12, 108530286: 108530286
3 MVK NM_000431.3(MVK): c.1129G> A (p.Val377Ile) single nucleotide variant Pathogenic rs28934897 GRCh37 Chromosome 12, 110034320: 110034320
4 MVK NM_000431.3(MVK): c.1129G> A (p.Val377Ile) single nucleotide variant Pathogenic rs28934897 GRCh38 Chromosome 12, 109596515: 109596515
5 MVK NM_000431.3(MVK): c.1000G> A (p.Ala334Thr) single nucleotide variant Pathogenic rs104895317 GRCh37 Chromosome 12, 110032947: 110032947
6 MVK NM_000431.3(MVK): c.1000G> A (p.Ala334Thr) single nucleotide variant Pathogenic rs104895317 GRCh38 Chromosome 12, 109595142: 109595142
7 MVK NM_000431.3(MVK): c.803T> C (p.Ile268Thr) single nucleotide variant Pathogenic rs104895304 GRCh37 Chromosome 12, 110029080: 110029080
8 MVK NM_000431.3(MVK): c.803T> C (p.Ile268Thr) single nucleotide variant Pathogenic rs104895304 GRCh38 Chromosome 12, 109591275: 109591275
9 MVK NM_000431.3(MVK): c.928G> A (p.Val310Met) single nucleotide variant Pathogenic rs104895319 GRCh37 Chromosome 12, 110032875: 110032875
10 MVK NM_000431.3(MVK): c.928G> A (p.Val310Met) single nucleotide variant Pathogenic rs104895319 GRCh38 Chromosome 12, 109595070: 109595070
11 MVK NM_000431.3(MVK): c.764T> C (p.Leu255Pro) single nucleotide variant Pathogenic rs397514570 GRCh37 Chromosome 12, 110028662: 110028662
12 MVK NM_000431.3(MVK): c.764T> C (p.Leu255Pro) single nucleotide variant Pathogenic rs397514570 GRCh38 Chromosome 12, 109590857: 109590857
13 MVK NM_000431.3(MVK): c.604G> A (p.Gly202Arg) single nucleotide variant Pathogenic rs104895301 GRCh37 Chromosome 12, 110023903: 110023903
14 MVK NM_000431.3(MVK): c.604G> A (p.Gly202Arg) single nucleotide variant Pathogenic rs104895301 GRCh38 Chromosome 12, 109586098: 109586098
15 MVK NM_000431.3(MVK): c.417dupC (p.Gly140Argfs) duplication Pathogenic rs104895373 GRCh37 Chromosome 12, 110019245: 110019245
16 MVK NM_000431.3(MVK): c.417dupC (p.Gly140Argfs) duplication Pathogenic rs104895373 GRCh38 Chromosome 12, 109581440: 109581440
17 MVK NM_000431.3(MVK): c.122T> C (p.Leu41Pro) single nucleotide variant Pathogenic rs397514571 GRCh37 Chromosome 12, 110013846: 110013846
18 MVK NM_000431.3(MVK): c.122T> C (p.Leu41Pro) single nucleotide variant Pathogenic rs397514571 GRCh38 Chromosome 12, 109576041: 109576041
19 MVK NM_000431.3(MVK): c.1039+2T> C single nucleotide variant Pathogenic rs398122910 GRCh37 Chromosome 12, 110032988: 110032988
20 MVK NM_000431.3(MVK): c.1039+2T> C single nucleotide variant Pathogenic rs398122910 GRCh38 Chromosome 12, 109595183: 109595183
21 MVK NM_000431.3(MVK): c.1094T> C (p.Phe365Ser) single nucleotide variant Pathogenic rs398122911 GRCh37 Chromosome 12, 110034285: 110034285
22 MVK NM_000431.3(MVK): c.1094T> C (p.Phe365Ser) single nucleotide variant Pathogenic rs398122911 GRCh38 Chromosome 12, 109596480: 109596480
23 MVK NM_000431.3(MVK): c.1005C> T (p.Gly335=) single nucleotide variant Conflicting interpretations of pathogenicity rs104895357 GRCh37 Chromosome 12, 110032952: 110032952
24 MVK NM_000431.3(MVK): c.1005C> T (p.Gly335=) single nucleotide variant Conflicting interpretations of pathogenicity rs104895357 GRCh38 Chromosome 12, 109595147: 109595147
25 MVK NM_000431.3(MVK): c.1067C> T (p.Thr356Met) single nucleotide variant Uncertain significance rs104895342 GRCh37 Chromosome 12, 110034258: 110034258
26 MVK NM_000431.3(MVK): c.1067C> T (p.Thr356Met) single nucleotide variant Uncertain significance rs104895342 GRCh38 Chromosome 12, 109596453: 109596453
27 MVK NM_000431.3(MVK): c.1139A> G (p.His380Arg) single nucleotide variant Likely pathogenic rs104895324 GRCh37 Chromosome 12, 110034330: 110034330
28 MVK NM_000431.3(MVK): c.1139A> G (p.His380Arg) single nucleotide variant Likely pathogenic rs104895324 GRCh38 Chromosome 12, 109596525: 109596525
29 MVK NM_000431.3(MVK): c.238G> A (p.Val80Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs76914224 GRCh37 Chromosome 12, 110017618: 110017618
30 MVK NM_000431.3(MVK): c.238G> A (p.Val80Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs76914224 GRCh38 Chromosome 12, 109579813: 109579813
31 MVK NM_000431.3(MVK): c.346T> C (p.Tyr116His) single nucleotide variant Pathogenic/Likely pathogenic rs104895382 GRCh37 Chromosome 12, 110017726: 110017726
32 MVK NM_000431.3(MVK): c.346T> C (p.Tyr116His) single nucleotide variant Pathogenic/Likely pathogenic rs104895382 GRCh38 Chromosome 12, 109579921: 109579921
33 MVK NM_000431.3(MVK): c.591C> T (p.His197=) single nucleotide variant Conflicting interpretations of pathogenicity rs104895329 GRCh37 Chromosome 12, 110023890: 110023890
34 MVK NM_000431.3(MVK): c.591C> T (p.His197=) single nucleotide variant Conflicting interpretations of pathogenicity rs104895329 GRCh38 Chromosome 12, 109586085: 109586085
35 MVK NM_000431.3(MVK): c.769-7T> G single nucleotide variant Benign/Likely benign rs104895331 GRCh37 Chromosome 12, 110029039: 110029039
36 MVK NM_000431.3(MVK): c.769-7T> G single nucleotide variant Benign/Likely benign rs104895331 GRCh38 Chromosome 12, 109591234: 109591234
37 MVK NM_000431.3(MVK): c.830G> A (p.Arg277His) single nucleotide variant Likely pathogenic rs104895352 GRCh37 Chromosome 12, 110029107: 110029107
38 MVK NM_000431.3(MVK): c.830G> A (p.Arg277His) single nucleotide variant Likely pathogenic rs104895352 GRCh38 Chromosome 12, 109591302: 109591302
39 MVK NM_000431.3(MVK): c.831C> T (p.Arg277=) single nucleotide variant Benign/Likely benign rs104895353 GRCh37 Chromosome 12, 110029108: 110029108
40 MVK NM_000431.3(MVK): c.831C> T (p.Arg277=) single nucleotide variant Benign/Likely benign rs104895353 GRCh38 Chromosome 12, 109591303: 109591303
41 MVK NM_000431.3(MVK): c.863C> T (p.Pro288Leu) single nucleotide variant Uncertain significance rs104895355 GRCh37 Chromosome 12, 110029140: 110029140
42 MVK NM_000431.3(MVK): c.863C> T (p.Pro288Leu) single nucleotide variant Uncertain significance rs104895355 GRCh38 Chromosome 12, 109591335: 109591335
43 MVK NM_000431.3(MVK): c.405G> A (p.Ser135=) single nucleotide variant Benign/Likely benign rs34368092 GRCh37 Chromosome 12, 110019233: 110019233
44 MVK NM_000431.3(MVK): c.405G> A (p.Ser135=) single nucleotide variant Benign/Likely benign rs34368092 GRCh38 Chromosome 12, 109581428: 109581428
45 MVK NM_000431.3(MVK): c.381G> A (p.Pro127=) single nucleotide variant Conflicting interpretations of pathogenicity rs140397628 GRCh37 Chromosome 12, 110019209: 110019209
46 MVK NM_000431.3(MVK): c.381G> A (p.Pro127=) single nucleotide variant Conflicting interpretations of pathogenicity rs140397628 GRCh38 Chromosome 12, 109581404: 109581404
47 MVK NM_000431.3(MVK): c.441C> T (p.Ala147=) single nucleotide variant Conflicting interpretations of pathogenicity rs138342076 GRCh37 Chromosome 12, 110019269: 110019269
48 MVK NM_000431.3(MVK): c.441C> T (p.Ala147=) single nucleotide variant Conflicting interpretations of pathogenicity rs138342076 GRCh38 Chromosome 12, 109581464: 109581464
49 MVK NM_000431.3(MVK): c.924C> T (p.Leu308=) single nucleotide variant Conflicting interpretations of pathogenicity rs72648042 GRCh37 Chromosome 12, 110032871: 110032871
50 MVK NM_000431.3(MVK): c.924C> T (p.Leu308=) single nucleotide variant Conflicting interpretations of pathogenicity rs72648042 GRCh38 Chromosome 12, 109595066: 109595066

Cosmic variations for Porokeratosis 3, Multiple Types:

9 (show top 50) (show all 361)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM43544 TP53 skin,face,carcinoma,squamous cell carcinoma c.260C>A p.P87Q 17:7676109-7676109 4
2 COSM44326 TP53 skin,face,carcinoma,squamous cell carcinoma c.706T>C p.Y236H 17:7674257-7674257 4
3 COSM10656 TP53 skin,face,carcinoma,squamous cell carcinoma c.742C>T p.R248W 17:7674221-7674221 4
4 COSM45830 TP53 skin,face,carcinoma,squamous cell carcinoma c.766A>C p.T256P 17:7674197-7674197 4
5 COSM45304 TP53 skin,face,carcinoma,squamous cell carcinoma c.375+1G>A p.? 17:7675993-7675993 4
6 COSM43588 TP53 skin,face,carcinoma,squamous cell carcinoma c.740A>C p.N247T 17:7674223-7674223 4
7 COSM11081 TP53 skin,face,carcinoma,squamous cell carcinoma c.733G>T p.G245C 17:7674230-7674230 4
8 COSM10733 TP53 skin,face,carcinoma,squamous cell carcinoma c.574C>T p.Q192* 17:7674957-7674957 4
9 COSM43651 TP53 skin,face,carcinoma,squamous cell carcinoma c.763A>T p.I255F 17:7674200-7674200 4
10 COSM43665 TP53 skin,face,carcinoma,squamous cell carcinoma c.746G>C p.R249T 17:7674217-7674217 4
11 COSM10988 TP53 skin,face,carcinoma,squamous cell carcinoma c.772G>A p.E258K 17:7674191-7674191 4
12 COSM45677 TP53 skin,face,carcinoma,squamous cell carcinoma c.714T>A p.C238* 17:7674249-7674249 4
13 COSM607136 TGFBR1 skin,neck,carcinoma,squamous cell carcinoma c.1247C>T p.S416F 9:99146601-99146601 4
14 COSM6962965 SMO skin,neck,carcinoma,squamous cell carcinoma c.1103C>T p.P368L 7:129206332-129206332 4
15 COSM6962990 RARA skin,neck,carcinoma,squamous cell carcinoma c.1384C>T p.P462S 17:40356221-40356221 4
16 COSM6962984 RAD52 skin,neck,carcinoma,squamous cell carcinoma c.439G>A p.V147M 12:927173-927173 4
17 COSM6962994 PTPRT skin,neck,carcinoma,squamous cell carcinoma c.1607C>T p.S536L 20:42352239-42352239 4
18 COSM6962992 PTPRT skin,neck,carcinoma,squamous cell carcinoma c.1619G>A p.G540E 20:42352227-42352227 4
19 COSM6962970 PTPRD skin,neck,carcinoma,squamous cell carcinoma c.1736G>A p.S579N 9:8504347-8504347 4
20 COSM456125 PTPRD skin,neck,carcinoma,squamous cell carcinoma c.5048C>T p.S1683F 9:8341168-8341168 4
21 COSM1700914 PTPRD skin,neck,carcinoma,squamous cell carcinoma c.1261C>T p.P421S 9:8518130-8518130 4
22 COSM17489 PTCH1 skin,face,carcinoma,squamous cell carcinoma c.3724G>A p.E1242K 9:95449149-95449149 4
23 COSM6962989 PLCG2 skin,neck,carcinoma,squamous cell carcinoma c.115G>T p.E39* 16:81786104-81786104 4
24 COSM6962963 PIK3CG skin,neck,carcinoma,squamous cell carcinoma c.310G>A p.G104R 7:106867871-106867871 4
25 COSM6962964 PIK3CG skin,neck,carcinoma,squamous cell carcinoma c.3227G>A p.R1076K 7:106905305-106905305 4
26 COSM564 NRAS skin,neck,carcinoma,squamous cell carcinoma c.35G>A p.G12D 1:114716126-114716126 4
27 COSM585 NRAS skin,face,carcinoma,squamous cell carcinoma c.183A>T p.Q61H 1:114713907-114713907 4
28 COSM6903909 NRAS skin,face,carcinoma,squamous cell carcinoma c.443C>T p.T148I 1:114709576-114709576 4
29 COSM574 NRAS skin,face,carcinoma,squamous cell carcinoma c.38G>T p.G13V 1:114716123-114716123 4
30 COSM1667036 NOTCH2 skin,face,carcinoma,squamous cell carcinoma c.337C>T p.R113* 1:120005407-120005407 4
31 COSM6903860 NOTCH2 skin,face,carcinoma,squamous cell carcinoma c.4418G>T p.W1473L 1:119925398-119925398 4
32 COSM6903872 NOTCH2 skin,face,carcinoma,squamous cell carcinoma c.5140G>A p.G1714S 1:119922309-119922309 4
33 COSM6903875 NOTCH2 skin,face,carcinoma,squamous cell carcinoma c.5266G>A p.E1756K 1:119921757-119921757 4
34 COSM6903891 NOTCH2 skin,face,carcinoma,squamous cell carcinoma c.5942T>C p.L1981P 1:119917750-119917750 4
35 COSM6903836 NOTCH2 skin,face,carcinoma,squamous cell carcinoma c.2314T>C p.C772R 1:119953594-119953594 4
36 COSM6903844 NOTCH2 skin,face,carcinoma,squamous cell carcinoma c.2987G>A p.C996Y 1:119940751-119940751 4
37 COSM6903876 NOTCH2 skin,face,carcinoma,squamous cell carcinoma c.5449G>A p.D1817N 1:119920259-119920259 4
38 COSM6903835 NOTCH2 skin,face,carcinoma,squamous cell carcinoma c.2234G>A p.C745Y 1:119953674-119953674 4
39 COSM6903838 NOTCH2 skin,face,carcinoma,squamous cell carcinoma c.2414T>C p.L805P 1:119950789-119950789 4
40 COSM6903841 NOTCH2 skin,face,carcinoma,squamous cell carcinoma c.2602C>G p.Q868E 1:119948564-119948564 4
41 COSM6903870 NOTCH2 skin,face,carcinoma,squamous cell carcinoma c.5006A>G p.E1669G 1:119922443-119922443 4
42 COSM6903823 NOTCH2 skin,face,carcinoma,squamous cell carcinoma c.1060A>G p.I354V 1:119969559-119969559 4
43 COSM6903877 NOTCH2 skin,face,carcinoma,squamous cell carcinoma c.5468T>C p.V1823A 1:119920240-119920240 4
44 COSM6903986 NOTCH2 skin,face,carcinoma,squamous cell carcinoma c.5524T>A p.S1842T 1:119919569-119919569 4
45 COSM6903905 NOTCH2 skin,face,carcinoma,squamous cell carcinoma c.7097C>T p.A2366V 1:119915625-119915625 4
46 COSM6903985 NOTCH2 skin,face,carcinoma,squamous cell carcinoma c.5524T>C p.S1842P 1:119919569-119919569 4
47 COSM6903904 NOTCH2 skin,face,carcinoma,squamous cell carcinoma c.7085A>G p.D2362G 1:119915637-119915637 4
48 COSM6903887 NOTCH2 skin,face,carcinoma,squamous cell carcinoma c.5836A>G p.T1946A 1:119918499-119918499 4
49 COSM6903873 NOTCH2 skin,face,carcinoma,squamous cell carcinoma c.5141G>A p.G1714D 1:119922308-119922308 4
50 COSM6903601 NOTCH1 skin,face,carcinoma,squamous cell carcinoma c.2609T>C p.I870T 9:136510784-136510784 4

Expression for Porokeratosis 3, Multiple Types

Search GEO for disease gene expression data for Porokeratosis 3, Multiple Types.

Pathways for Porokeratosis 3, Multiple Types

GO Terms for Porokeratosis 3, Multiple Types

Sources for Porokeratosis 3, Multiple Types

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