POROK7
MCID: PRK075
MIFTS: 18

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 75 6
Porokeratosis 7, Disseminated Superficial Actinic Type 75 73
Porok7 57 75

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
lesions may become more prominent with sun exposure


HPO:

32
porokeratosis 7, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 614714
MeSH 44 D017499
UMLS 73 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)

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). Affiliated tissues include skin, and related phenotypes are parakeratosis and porokeratosis

UniProtKB/Swiss-Prot : 75 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 11.1

Symptoms & Phenotypes for Porokeratosis 7, Multiple Types

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Porokeratosis 7, Multiple Types:

32
# Description HPO Frequency HPO Source Accession
1 parakeratosis 32 HP:0001036
2 porokeratosis 32 HP:0200044

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

Anatomical Context for Porokeratosis 7, Multiple Types

MalaCards organs/tissues related to Porokeratosis 7, Multiple Types:

41
Skin

Publications for Porokeratosis 7, Multiple Types

Variations for Porokeratosis 7, Multiple Types

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

75
# 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

ClinVar genetic disease variations for Porokeratosis 7, Multiple Types:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MVD NM_002461.2(MVD): c.746T> C (p.Phe249Ser) single nucleotide variant Pathogenic rs761991070 GRCh37 Chromosome 16, 88721758: 88721758
2 MVD NM_002461.2(MVD): c.746T> C (p.Phe249Ser) single nucleotide variant Pathogenic rs761991070 GRCh38 Chromosome 16, 88655350: 88655350
3 MVD NM_002461.2(MVD): c.875A> G (p.Asn292Ser) single nucleotide variant Pathogenic rs755948940 GRCh38 Chromosome 16, 88655221: 88655221
4 MVD NM_002461.2(MVD): c.875A> G (p.Asn292Ser) single nucleotide variant Pathogenic rs755948940 GRCh37 Chromosome 16, 88721629: 88721629

Cosmic variations for Porokeratosis 7, 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 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
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
Content
Loading form....