POROK8
MCID: PRK067
MIFTS: 24

Porokeratosis 8, Disseminated Superficial Actinic Type (POROK8)

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

Aliases & Classifications for Porokeratosis 8, Disseminated Superficial Actinic Type

MalaCards integrated aliases for Porokeratosis 8, Disseminated Superficial Actinic Type:

Name: Porokeratosis 8, Disseminated Superficial Actinic Type 57 72 29 6 70
Porok8 57 72
Porokeratosis, Type 8, Disseminated Superficial Actinic Type 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset in second and third decades of life


HPO:

31
porokeratosis 8, disseminated superficial actinic type:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 616063
OMIM Phenotypic Series 57 PS175800
MeSH 44 D017499
UMLS 70 C4015128

Summaries for Porokeratosis 8, Disseminated Superficial Actinic Type

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 shape, distribution, and clinical course (Schamroth et al., 1997). However, as noted by Sybert (2010), the existence of several families with expression of more than one variant of porokeratosis among members, and individuals expressing more than one variant, suggest that the distinctions among these variants may be artificial. 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. (616063) (Updated 20-May-2021)

MalaCards based summary : Porokeratosis 8, Disseminated Superficial Actinic Type, is also known as porok8. An important gene associated with Porokeratosis 8, Disseminated Superficial Actinic Type is SLC17A9 (Solute Carrier Family 17 Member 9). Related phenotypes are papule and porokeratosis

UniProtKB/Swiss-Prot : 72 Porokeratosis 8, disseminated superficial actinic type: 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. Disseminated superficial actinic porokeratosis (DSAP) is the most common subtype. 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.

Related Diseases for Porokeratosis 8, Disseminated Superficial Actinic Type

Symptoms & Phenotypes for Porokeratosis 8, Disseminated Superficial Actinic Type

Human phenotypes related to Porokeratosis 8, Disseminated Superficial Actinic Type:

31
# Description HPO Frequency HPO Source Accession
1 papule 31 HP:0200034
2 porokeratosis 31 HP:0200044

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skin Nails Hair Skin:
irregular annular keratotic lesions with slightly elevated borders, located primarily on the face but also distributed on the chest and forearms

Clinical features from OMIM®:

616063 (Updated 20-May-2021)

Drugs & Therapeutics for Porokeratosis 8, Disseminated Superficial Actinic Type

Search Clinical Trials , NIH Clinical Center for Porokeratosis 8, Disseminated Superficial Actinic Type

Genetic Tests for Porokeratosis 8, Disseminated Superficial Actinic Type

Genetic tests related to Porokeratosis 8, Disseminated Superficial Actinic Type:

# Genetic test Affiliating Genes
1 Porokeratosis 8, Disseminated Superficial Actinic Type 29 SLC17A9

Anatomical Context for Porokeratosis 8, Disseminated Superficial Actinic Type

Publications for Porokeratosis 8, Disseminated Superficial Actinic Type

Articles related to Porokeratosis 8, Disseminated Superficial Actinic Type:

# Title Authors PMID Year
1
Exome sequencing identifies SLC17A9 pathogenic gene in two Chinese pedigrees with disseminated superficial actinic porokeratosis. 57 6
25180256 2014
2
Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis. 57
22983302 2012
3
Confirmation and refinement of a genetic locus for disseminated superficial actinic porokeratosis (DSAP1) at 12q23.2-24.1. 57
15149516 2004
4
Porokeratosis of Mibelli. Overview and review of the literature. 57
9188872 1997

Variations for Porokeratosis 8, Disseminated Superficial Actinic Type

ClinVar genetic disease variations for Porokeratosis 8, Disseminated Superficial Actinic Type:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC17A9 NM_022082.4(SLC17A9):c.932G>A (p.Arg311Gln) SNV Pathogenic 156578 rs606231251 GRCh37: 20:61596505-61596505
GRCh38: 20:62965153-62965153
2 SLC17A9 NM_022082.4(SLC17A9):c.25C>T (p.Arg9Cys) SNV Pathogenic 156579 rs548728088 GRCh37: 20:61584207-61584207
GRCh38: 20:62952855-62952855
3 SLC17A9 NM_022082.4(SLC17A9):c.1102del (p.Ala368fs) Deletion Pathogenic 1028751 GRCh37: 20:61597917-61597917
GRCh38: 20:62966565-62966565
4 SLC17A9 NM_022082.4(SLC17A9):c.1012T>C (p.Ser338Pro) SNV Uncertain significance 1031327 GRCh37: 20:61597028-61597028
GRCh38: 20:62965676-62965676
5 SLC17A9 NM_022082.4(SLC17A9):c.931C>T (p.Arg311Trp) SNV Uncertain significance 587582 rs368854989 GRCh37: 20:61596504-61596504
GRCh38: 20:62965152-62965152

UniProtKB/Swiss-Prot genetic disease variations for Porokeratosis 8, Disseminated Superficial Actinic Type:

72
# Symbol AA change Variation ID SNP ID
1 SLC17A9 p.Arg9Cys VAR_071983 rs548728088
2 SLC17A9 p.Arg311Gln VAR_071984 rs606231251

Cosmic variations for Porokeratosis 8, Disseminated Superficial Actinic Type:

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

Expression for Porokeratosis 8, Disseminated Superficial Actinic Type

Search GEO for disease gene expression data for Porokeratosis 8, Disseminated Superficial Actinic Type.

Pathways for Porokeratosis 8, Disseminated Superficial Actinic Type

GO Terms for Porokeratosis 8, Disseminated Superficial Actinic Type

Sources for Porokeratosis 8, Disseminated Superficial Actinic Type

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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