MCID: PRK080
MIFTS: 21

Porokeratosis 3, Multiple Types

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


HPO:

32
porokeratosis 3, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 175900
MedGen 42 C1867981
MeSH 44 D017499
SNOMED-CT via HPO 69 263681008 87065009 80432009
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 nail dystrophy and porokeratosis

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 11.4

Symptoms & Phenotypes for Porokeratosis 3, Multiple Types

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
small, annular, anhidrotic keratotic lesions located predominantly on sun-exposed areas
central atrophic area with peripheral keratotic ridge
disseminated superficial actinic porokeratosis
non-actinic disseminated superficial porokeratosis
porokeratosis of mibelli
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 nail dystrophy 32 occasional (7.5%) HP:0008404
2 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 all 34)
# Gene Variation Type Significance SNP ID Assembly Location
1 MVK NM_000431.3(MVK): c.1129G> A (p.Val377Ile) single nucleotide variant Pathogenic rs28934897 GRCh37 Chromosome 12, 110034320: 110034320
2 MVK NM_000431.3(MVK): c.1129G> A (p.Val377Ile) single nucleotide variant Pathogenic rs28934897 GRCh38 Chromosome 12, 109596515: 109596515
3 MVK NM_000431.3(MVK): c.764T> C (p.Leu255Pro) single nucleotide variant Pathogenic rs397514570 GRCh37 Chromosome 12, 110028662: 110028662
4 MVK NM_000431.3(MVK): c.764T> C (p.Leu255Pro) single nucleotide variant Pathogenic rs397514570 GRCh38 Chromosome 12, 109590857: 109590857
5 MVK NM_000431.3(MVK): c.604G> A (p.Gly202Arg) single nucleotide variant Pathogenic rs104895301 GRCh37 Chromosome 12, 110023903: 110023903
6 MVK NM_000431.3(MVK): c.604G> A (p.Gly202Arg) single nucleotide variant Pathogenic rs104895301 GRCh38 Chromosome 12, 109586098: 109586098
7 MVK NM_000431.3(MVK): c.417dupC (p.Gly140Argfs) duplication Pathogenic rs104895373 GRCh37 Chromosome 12, 110019245: 110019245
8 MVK NM_000431.3(MVK): c.417dupC (p.Gly140Argfs) duplication Pathogenic rs104895373 GRCh38 Chromosome 12, 109581440: 109581440
9 MVK NM_000431.3(MVK): c.122T> C (p.Leu41Pro) single nucleotide variant Pathogenic rs397514571 GRCh37 Chromosome 12, 110013846: 110013846
10 MVK NM_000431.3(MVK): c.122T> C (p.Leu41Pro) single nucleotide variant Pathogenic rs397514571 GRCh38 Chromosome 12, 109576041: 109576041
11 MVK NM_000431.3(MVK): c.1039+2T> C single nucleotide variant Pathogenic rs398122910 GRCh37 Chromosome 12, 110032988: 110032988
12 MVK NM_000431.3(MVK): c.1039+2T> C single nucleotide variant Pathogenic rs398122910 GRCh38 Chromosome 12, 109595183: 109595183
13 MVK NM_000431.3(MVK): c.1094T> C (p.Phe365Ser) single nucleotide variant Pathogenic rs398122911 GRCh37 Chromosome 12, 110034285: 110034285
14 MVK NM_000431.3(MVK): c.1094T> C (p.Phe365Ser) single nucleotide variant Pathogenic rs398122911 GRCh38 Chromosome 12, 109596480: 109596480
15 MVK NM_000431.3(MVK): c.346T> C (p.Tyr116His) single nucleotide variant Pathogenic/Likely pathogenic rs104895382 GRCh37 Chromosome 12, 110017726: 110017726
16 MVK NM_000431.3(MVK): c.346T> C (p.Tyr116His) single nucleotide variant Pathogenic/Likely pathogenic rs104895382 GRCh38 Chromosome 12, 109579921: 109579921
17 MVK NM_000431.3(MVK): c.924C> T (p.Leu308=) single nucleotide variant Conflicting interpretations of pathogenicity rs72648042 GRCh37 Chromosome 12, 110032871: 110032871
18 MVK NM_000431.3(MVK): c.924C> T (p.Leu308=) single nucleotide variant Conflicting interpretations of pathogenicity rs72648042 GRCh38 Chromosome 12, 109595066: 109595066
19 MVK NM_000431.3(MVK): c.1039+1G> A single nucleotide variant Pathogenic rs104895362 GRCh37 Chromosome 12, 110032987: 110032987
20 MVK NM_000431.3(MVK): c.1039+1G> A single nucleotide variant Pathogenic rs104895362 GRCh38 Chromosome 12, 109595182: 109595182
21 MVK NM_000431.2(MVK): c.-1880_527+533del deletion Pathogenic GRCh38 Chromosome 12, 109572008: 109582083
22 MVK NM_000431.2(MVK): c.-1880_527+533del deletion Pathogenic GRCh37 Chromosome 12, 110009813: 110019888
23 MVK NM_000431.3(MVK): c.226+4A> G single nucleotide variant Conflicting interpretations of pathogenicity rs145732290 GRCh37 Chromosome 12, 110013954: 110013954
24 MVK NM_000431.3(MVK): c.226+4A> G single nucleotide variant Conflicting interpretations of pathogenicity rs145732290 GRCh38 Chromosome 12, 109576149: 109576149
25 MVK NM_000431.3(MVK): c.780C> A (p.Ile260=) single nucleotide variant Conflicting interpretations of pathogenicity rs34975996 GRCh38 Chromosome 12, 109591252: 109591252
26 MVK NM_000431.3(MVK): c.780C> A (p.Ile260=) single nucleotide variant Conflicting interpretations of pathogenicity rs34975996 GRCh37 Chromosome 12, 110029057: 110029057
27 MVK NM_000431.3(MVK): c.1039+8G> C single nucleotide variant Likely benign rs765989100 GRCh37 Chromosome 12, 110032994: 110032994
28 MVK NM_000431.3(MVK): c.1039+8G> C single nucleotide variant Likely benign rs765989100 GRCh38 Chromosome 12, 109595189: 109595189
29 MVK NM_000431.3(MVK): c.618T> A (p.Ala206=) single nucleotide variant Likely benign rs370745426 GRCh37 Chromosome 12, 110023917: 110023917
30 MVK NM_000431.3(MVK): c.618T> A (p.Ala206=) single nucleotide variant Likely benign rs370745426 GRCh38 Chromosome 12, 109586112: 109586112
31 MVK NM_000431.3(MVK): c.864G> A (p.Pro288=) single nucleotide variant Likely benign rs149708247 GRCh38 Chromosome 12, 109591336: 109591336
32 MVK NM_000431.3(MVK): c.864G> A (p.Pro288=) single nucleotide variant Likely benign rs149708247 GRCh37 Chromosome 12, 110029141: 110029141
33 MVK NM_000431.3(MVK): c.975C> T (p.Arg325=) single nucleotide variant Likely benign rs748947620 GRCh37 Chromosome 12, 110032922: 110032922
34 MVK NM_000431.3(MVK): c.975C> T (p.Arg325=) single nucleotide variant Likely benign rs748947620 GRCh38 Chromosome 12, 109595117: 109595117

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
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44 MeSH
45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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