POROK7
MCID: PRK075
MIFTS: 27

Porokeratosis 7, Multiple Types (POROK7)

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

Aliases & Classifications for Porokeratosis 7, Multiple Types

MalaCards integrated aliases for Porokeratosis 7, Multiple Types:

Name: Porokeratosis 7, Multiple Types 57 72 29 6
Porokeratosis 7, Disseminated Superficial Actinic Type 72 70
Porok7 57 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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
lesions may become more prominent with sun exposure


HPO:

31
porokeratosis 7, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 614714
OMIM Phenotypic Series 57 PS175800
MeSH 44 D017499
UMLS 70 C3553549

Summaries for Porokeratosis 7, 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 MVD 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), solar facial porokeratosis, linear porokeratosis, and hyperkeratotic porokeratosis. The preferred title of this entry was formerly 'Porokeratosis 7, Disseminated Superficial Actinic Type; POROK7.' Disseminated superficial actinic porokeratosis (DSAP) 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. (614714) (Updated 05-Apr-2021)

MalaCards based summary : Porokeratosis 7, Multiple Types, also known as porokeratosis 7, disseminated superficial actinic type, is related to porokeratosis. An important gene associated with Porokeratosis 7, Multiple Types is MVD (Mevalonate Diphosphate Decarboxylase). Related phenotypes are porokeratosis and parakeratosis

UniProtKB/Swiss-Prot : 72 Porokeratosis 7, 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 7, 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 7, Multiple Types via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 porokeratosis 11.0

Symptoms & Phenotypes for Porokeratosis 7, Multiple Types

Human phenotypes related to Porokeratosis 7, Multiple Types:

31
# Description HPO Frequency HPO Source Accession
1 porokeratosis 31 HP:0200044
2 parakeratosis 31 HP:0001036

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skin Nails Hair Skin:
linear porokeratosis
disseminated superficial actinic porokeratosis
non-actinic disseminated superficial porokeratosis
small conically shaped papules (1 to 3 mm in diameter) located on face, neck, trunk, and limbs
papules enlarge centrifugally to form central atrophic area with an irregular keratotic ridge
more
Skin Nails Hair Skin Histology:
vertical columns of parakeratosis (cornoid lamella) overlying absent or reduced granular layer with dyskeratotic cells
invagination of epidermis

Clinical features from OMIM®:

614714 (Updated 05-Apr-2021)

Drugs & Therapeutics for Porokeratosis 7, Multiple Types

Search Clinical Trials , NIH Clinical Center for Porokeratosis 7, Multiple Types

Genetic Tests for Porokeratosis 7, Multiple Types

Genetic tests related to Porokeratosis 7, Multiple Types:

# Genetic test Affiliating Genes
1 Porokeratosis 7, Multiple Types 29 MVD

Anatomical Context for Porokeratosis 7, Multiple Types

Publications for Porokeratosis 7, Multiple Types

Articles related to Porokeratosis 7, Multiple Types:

# Title Authors PMID Year
1
Genomic variations of the mevalonate pathway in porokeratosis. 6 57
26202976 2015
2
A novel locus for disseminated superficial actinic porokeratosis maps to chromosome 16q24.1-24.3. 6 57
21161278 2011
3
Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis. 57
22983302 2012
4
Confirmation and refinement of a genetic locus for disseminated superficial actinic porokeratosis (DSAP1) at 12q23.2-24.1. 57
15149516 2004
5
Porokeratosis of Mibelli. Overview and review of the literature. 57
9188872 1997

Variations for Porokeratosis 7, Multiple Types

ClinVar genetic disease variations for Porokeratosis 7, Multiple Types:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MVD NM_002461.3(MVD):c.746T>C (p.Phe249Ser) SNV Pathogenic 253039 rs761991070 GRCh37: 16:88721758-88721758
GRCh38: 16:88655350-88655350
2 MVD NM_002461.3(MVD):c.875A>G (p.Asn292Ser) SNV Pathogenic 253040 rs755948940 GRCh37: 16:88721629-88721629
GRCh38: 16:88655221-88655221
3 MVD NM_002461.3(MVD):c.464del (p.Gly155fs) Deletion Pathogenic 1030559 GRCh37: 16:88722652-88722652
GRCh38: 16:88656244-88656244
4 MVD NM_002461.3(MVD):c.128T>C (p.Leu43Pro) SNV Uncertain significance 638465 rs1597381715 GRCh37: 16:88725071-88725071
GRCh38: 16:88658663-88658663

UniProtKB/Swiss-Prot genetic disease variations for Porokeratosis 7, Multiple Types:

72
# Symbol AA change Variation ID SNP ID
1 MVD p.Arg161Gln VAR_075055 rs144010349
2 MVD p.Phe249Ser VAR_075058 rs761991070
3 MVD p.Asn292Ser VAR_075059 rs755948940

Cosmic variations for Porokeratosis 7, Multiple Types:

9 (show top 50) (show all 1402)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM112254631 TP53 skin,face,carcinoma,squamous cell carcinoma c.586C>T p.R196* 17:7674945-7674945 4
2 COSM143943797 TP53 skin,neck,carcinoma,squamous cell carcinoma c.266G>A p.R89Q 17:7674220-7674220 4
3 COSM121875437 TP53 skin,face,carcinoma,squamous cell carcinoma c.178C>T p.Q60* 17:7674957-7674957 4
4 COSM143388508 TP53 skin,face,carcinoma,squamous cell carcinoma c.629G>C p.R210T 17:7674217-7674217 4
5 COSM111758868 TP53 skin,face,carcinoma,squamous cell carcinoma c.742C>T p.R248W 17:7674221-7674221 4
6 COSM142560384 TP53 skin,face,carcinoma,squamous cell carcinoma c.616G>T p.G206C 17:7674230-7674230 4
7 COSM144021997 TP53 skin,face,carcinoma,squamous cell carcinoma c.421C>T p.P141S 17:7675158-7675158 4
8 COSM144658487 TP53 skin,face,carcinoma,squamous cell carcinoma c.143C>A p.P48Q 17:7676109-7676109 4
9 COSM142639459 TP53 skin,face,carcinoma,squamous cell carcinoma c.597T>A p.C199* 17:7674249-7674249 4
10 COSM105620390 TP53 skin,face,carcinoma,squamous cell carcinoma c.733G>T p.G245C 17:7674230-7674230 4
11 COSM112263720 TP53 skin,face,carcinoma,squamous cell carcinoma c.832C>T p.P278S 17:7673788-7673788 4
12 COSM93239210 TP53 skin,face,carcinoma,squamous cell carcinoma c.706T>C p.Y236H 17:7674257-7674257 4
13 COSM105620642 TP53 skin,face,carcinoma,squamous cell carcinoma c.742C>T p.R248W 17:7674221-7674221 4
14 COSM143949062 TP53 skin,face,carcinoma,squamous cell carcinoma c.263A>C p.N88T 17:7674223-7674223 4
15 COSM111775215 TP53 skin,face,carcinoma,squamous cell carcinoma c.746G>C p.R249T 17:7674217-7674217 4
16 COSM144129318 TP53 skin,face,carcinoma,squamous cell carcinoma c.229T>C p.Y77H 17:7674257-7674257 4
17 COSM144088618 TP53 skin,face,carcinoma,squamous cell carcinoma c.160C>T p.R54* 17:7674894-7674894 4
18 COSM87910628 TP53 skin,face,carcinoma,squamous cell carcinoma c.772G>A p.E258K 17:7674191-7674191 4
19 COSM144662686 TP53 skin,face,carcinoma,squamous cell carcinoma c.715C>T p.P239S 17:7673788-7673788 4
20 COSM144650676 TP53 skin,face,carcinoma,squamous cell carcinoma c.457C>T p.Q153* 17:7674957-7674957 4
21 COSM142560553 TP53 skin,face,carcinoma,squamous cell carcinoma c.625C>T p.R209W 17:7674221-7674221 4
22 COSM145019215 TP53 skin,face,carcinoma,squamous cell carcinoma c.739G>A p.E247K 17:7673764-7673764 4
23 COSM93194159 TP53 skin,face,carcinoma,squamous cell carcinoma c.832C>T p.P278S 17:7673788-7673788 4
24 COSM142560281 TP53 skin,neck,carcinoma,squamous cell carcinoma c.626G>A p.R209Q 17:7674220-7674220 4
25 COSM93183975 TP53 skin,face,carcinoma,squamous cell carcinoma c.742C>T p.R248W 17:7674221-7674221 4
26 COSM93199912 TP53 skin,face,carcinoma,squamous cell carcinoma c.746G>C p.R249T 17:7674217-7674217 4
27 COSM144023384 TP53 skin,face,carcinoma,squamous cell carcinoma c.739G>A p.E247K 17:7674191-7674191 4
28 COSM145020185 TP53 skin,face,carcinoma,squamous cell carcinoma c.520C>T p.R174* 17:7674894-7674894 4
29 COSM105630961 TP53 skin,face,carcinoma,squamous cell carcinoma c.782+393C>T p.? 17:7673788-7673788 4
30 COSM111758130 TP53 skin,face,carcinoma,squamous cell carcinoma c.574C>T p.Q192* 17:7674957-7674957 4
31 COSM122749884 TP53 skin,face,carcinoma,squamous cell carcinoma c.350G>C p.R117T 17:7674217-7674217 4
32 COSM106052835 TP53 skin,face,carcinoma,squamous cell carcinoma c.574C>T p.Q192* 17:7674957-7674957 4
33 COSM144023287 TP53 skin,face,carcinoma,squamous cell carcinoma c.799C>T p.P267S 17:7673788-7673788 4
34 COSM142838067 TP53 skin,face,carcinoma,squamous cell carcinoma c.586C>T p.R196* 17:7674945-7674945 4
35 COSM143946062 TP53 skin,face,carcinoma,squamous cell carcinoma c.160C>T p.R54* 17:7674894-7674894 4
36 COSM121887849 TP53 skin,face,carcinoma,squamous cell carcinoma c.436C>T p.P146S 17:7673788-7673788 4
37 COSM144652672 TP53 skin,face,carcinoma,squamous cell carcinoma c.739G>A p.E247K 17:7673764-7673764 4
38 COSM142843719 TP53 skin,face,carcinoma,squamous cell carcinoma c.454C>T p.P152S 17:7675158-7675158 4
39 COSM87910495 TP53 skin,face,carcinoma,squamous cell carcinoma c.832C>T p.P278S 17:7673788-7673788 4
40 COSM105619751 TP53 skin,face,carcinoma,squamous cell carcinoma c.574C>T p.Q192* 17:7674957-7674957 4
41 COSM144318661 TP53 skin,face,carcinoma,squamous cell carcinoma c.655G>A p.E219K 17:7674191-7674191 4
42 COSM144091278 TP53 skin,face,carcinoma,squamous cell carcinoma c.263A>C p.N88T 17:7674223-7674223 4
43 COSM144652296 TP53 skin,face,carcinoma,squamous cell carcinoma c.469C>T p.R157* 17:7674945-7674945 4
44 COSM144311933 TP53 skin,face,carcinoma,squamous cell carcinoma c.520C>T p.R174* 17:7674894-7674894 4
45 COSM111812818 TP53 skin,face,carcinoma,squamous cell carcinoma c.706T>C p.Y236H 17:7674257-7674257 4
46 COSM105627464 TP53 skin,face,carcinoma,squamous cell carcinoma c.260C>A p.P87Q 17:7676109-7676109 4
47 COSM144013676 TP53 skin,face,carcinoma,squamous cell carcinoma c.709C>T p.R237W 17:7674221-7674221 4
48 COSM106063640 TP53 skin,face,carcinoma,squamous cell carcinoma c.832C>T p.P278S 17:7673788-7673788 4
49 COSM122734399 TP53 skin,face,carcinoma,squamous cell carcinoma c.346C>T p.R116W 17:7674221-7674221 4
50 COSM142837995 TP53 skin,face,carcinoma,squamous cell carcinoma c.375+1G>A p.? 17:7675993-7675993 4

Expression for Porokeratosis 7, Multiple Types

Search GEO for disease gene expression data for Porokeratosis 7, Multiple Types.

Pathways for Porokeratosis 7, Multiple Types

GO Terms for Porokeratosis 7, Multiple Types

Sources for Porokeratosis 7, Multiple Types

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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