POROK8
MCID: PRK067
MIFTS: 15

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 58 76 6 74
Porok8 58 76
Porokeratosis, Type 8, Disseminated Superficial Actinic Type 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset in second and third decades of life


HPO:

33
porokeratosis 8, disseminated superficial actinic type:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 616063
MeSH 45 D017499
UMLS 74 C4015128

Summaries for Porokeratosis 8, Disseminated Superficial Actinic Type

OMIM : 58 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)

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

UniProtKB/Swiss-Prot : 76 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

Diseases in the Porokeratosis 4, Disseminated Superficial Actinic Type family:

Porokeratosis 5, Disseminated Superficial Actinic Type 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:

33
# Description HPO Frequency HPO Source Accession
1 papule 33 HP:0200034
2 porokeratosis 33 HP:0200044

Symptoms via clinical synopsis from OMIM:

58
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

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

Anatomical Context for Porokeratosis 8, Disseminated Superficial Actinic Type

MalaCards organs/tissues related to Porokeratosis 8, Disseminated Superficial Actinic Type:

42
Skin

Publications for Porokeratosis 8, Disseminated Superficial Actinic Type

Variations for Porokeratosis 8, Disseminated Superficial Actinic Type

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

76
# Symbol AA change Variation ID SNP ID
1 SLC17A9 p.Arg9Cys VAR_071983 rs548728088
2 SLC17A9 p.Arg311Gln VAR_071984 rs606231251

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC17A9 NM_022082.3(SLC17A9): c.932G> A (p.Arg311Gln) single nucleotide variant Pathogenic rs606231251 GRCh38 Chromosome 20, 62965153: 62965153
2 SLC17A9 NM_022082.3(SLC17A9): c.932G> A (p.Arg311Gln) single nucleotide variant Pathogenic rs606231251 GRCh37 Chromosome 20, 61596505: 61596505
3 SLC17A9 NM_022082.3(SLC17A9): c.25C> T (p.Arg9Cys) single nucleotide variant Pathogenic rs548728088 GRCh38 Chromosome 20, 62952855: 62952855
4 SLC17A9 NM_022082.3(SLC17A9): c.25C> T (p.Arg9Cys) single nucleotide variant Pathogenic rs548728088 GRCh37 Chromosome 20, 61584207: 61584207
5 SLC17A9 NM_022082.3(SLC17A9): c.931C> T (p.Arg311Trp) single nucleotide variant Uncertain significance GRCh37 Chromosome 20, 61596504: 61596504
6 SLC17A9 NM_022082.3(SLC17A9): c.931C> T (p.Arg311Trp) single nucleotide variant Uncertain significance GRCh38 Chromosome 20, 62965152: 62965152

Cosmic variations for Porokeratosis 8, Disseminated Superficial Actinic Type:

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 COSM44097 TP53 skin,face,carcinoma,NS c.530C>T p.P177L 17:7675082-7675082 0
2 COSM10887 TP53 skin,face,carcinoma,NS c.833C>G p.P278R 17:7673787-7673787 0
3 COSM44295 TP53 skin,face,carcinoma,NS c.993+1G>A p.? 17:7673534-7673534 0
4 COSM10939 TP53 skin,face,carcinoma,NS c.832C>T p.P278S 17:7673788-7673788 0
5 COSM43544 TP53 skin,face,carcinoma,squamous cell carcinoma c.260C>A p.P87Q 17:7676109-7676109 0
6 COSM44326 TP53 skin,face,carcinoma,squamous cell carcinoma c.706T>C p.Y236H 17:7674257-7674257 0
7 COSM10662 TP53 skin,face,carcinoma,NS c.743G>A p.R248Q 17:7674220-7674220 0
8 COSM11449 TP53 skin,face,carcinoma,NS c.388C>T p.L130F 17:7675224-7675224 0
9 COSM44068 TP53 skin,face,carcinoma,NS c.532C>A p.H178N 17:7675080-7675080 0
10 COSM43582 TP53 skin,face,carcinoma,NS c.454C>T p.P152S 17:7675158-7675158 0
11 COSM10654 TP53 skin,face,carcinoma,NS c.637C>T p.R213* 17:7674894-7674894 0
12 COSM10656 TP53 skin,face,carcinoma,squamous cell carcinoma c.742C>T p.R248W 17:7674221-7674221 0
13 COSM44552 TP53 skin,face,carcinoma,NS c.509C>T p.T170M 17:7675103-7675103 0
14 COSM45830 TP53 skin,face,carcinoma,squamous cell carcinoma c.766A>C p.T256P 17:7674197-7674197 0
15 COSM10812 TP53 skin,face,carcinoma,NS c.722C>T p.S241F 17:7674241-7674241 0
16 COSM10726 TP53 skin,face,carcinoma,NS c.856G>A p.E286K 17:7673764-7673764 0
17 COSM45304 TP53 skin,face,carcinoma,squamous cell carcinoma c.375+1G>A p.? 17:7675993-7675993 0
18 COSM10992 TP53 skin,face,carcinoma,NS c.844C>G p.R282G 17:7673776-7673776 0
19 COSM43588 TP53 skin,face,carcinoma,squamous cell carcinoma c.740A>C p.N247T 17:7674223-7674223 0
20 COSM10705 TP53 skin,face,carcinoma,NS c.586C>T p.R196* 17:7674945-7674945 0
21 COSM11081 TP53 skin,face,carcinoma,squamous cell carcinoma c.733G>T p.G245C 17:7674230-7674230 0
22 COSM11073 TP53 skin,face,carcinoma,NS c.1024C>T p.R342* 17:7670685-7670685 0
23 COSM45733 TP53 skin,face,carcinoma,NS c.432G>A p.Q144Q 17:7675180-7675180 0
24 COSM10704 TP53 skin,face,carcinoma,NS c.844C>T p.R282W 17:7673776-7673776 0
25 COSM43700 TP53 skin,face,carcinoma,NS c.712T>A p.C238S 17:7674251-7674251 0
26 COSM10733 TP53 skin,face,carcinoma,squamous cell carcinoma c.574C>T p.Q192* 17:7674957-7674957 0
27 COSM44227 TP53 skin,face,carcinoma,NS c.854A>T p.E285V 17:7673766-7673766 0
28 COSM10768 TP53 skin,face,carcinoma,NS c.535C>T p.H179Y 17:7675077-7675077 0
29 COSM43651 TP53 skin,face,carcinoma,squamous cell carcinoma c.763A>T p.I255F 17:7674200-7674200 0
30 COSM44435 TP53 skin,face,carcinoma,NS c.96+1G>A p.? 17:7676381-7676381 0
31 COSM43920 TP53 skin,face,carcinoma,NS c.680C>T p.S227F 17:7674283-7674283 0
32 COSM44436 TP53 skin,face,carcinoma,NS c.375+2T>C p.? 17:7675992-7675992 0
33 COSM43596 TP53 skin,face,carcinoma,NS c.841G>A p.D281N 17:7673779-7673779 0
34 COSM10749 TP53 skin,face,carcinoma,NS c.830G>T p.C277F 17:7673790-7673790 0
35 COSM11084 TP53 skin,face,carcinoma,NS c.517G>A p.V173M 17:7675095-7675095 0
36 COSM43742 TP53 skin,face,carcinoma,NS c.419C>T p.T140I 17:7675193-7675193 0
37 COSM44241 TP53 skin,face,carcinoma,NS c.592G>T p.E198* 17:7674939-7674939 0
38 COSM43665 TP53 skin,face,carcinoma,squamous cell carcinoma c.746G>C p.R249T 17:7674217-7674217 0
39 COSM10988 TP53 skin,face,carcinoma,squamous cell carcinoma c.772G>A p.E258K 17:7674191-7674191 0
40 COSM10728 TP53 skin,face,carcinoma,NS c.839G>A p.R280K 17:7673781-7673781 0
41 COSM45677 TP53 skin,face,carcinoma,squamous cell carcinoma c.714T>A p.C238* 17:7674249-7674249 0
42 COSM607136 TGFBR1 skin,neck,carcinoma,squamous cell carcinoma c.1247C>T p.S416F 9:99146601-99146601 0
43 COSM13233 SUFU skin,face,carcinoma,NS c.591C>T p.F197F 10:102592718-102592718 0
44 COSM13234 SUFU skin,face,carcinoma,NS c.560C>T p.P187L 10:102592687-102592687 0
45 COSM3942016 SMO skin,face,carcinoma,NS c.1376C>T p.A459V 7:129209307-129209307 0
46 COSM13146 SMO skin,face,carcinoma,NS c.1604G>T p.W535L 7:129210500-129210500 0
47 COSM6962965 SMO skin,neck,carcinoma,squamous cell carcinoma c.1103C>T p.P368L 7:129206332-129206332 0
48 COSM13144 SMO skin,face,carcinoma,NS c.1598G>A p.S533N 7:129210494-129210494 0
49 COSM216037 SMO skin,face,carcinoma,NS c.1234C>T p.L412F 7:129206557-129206557 0
50 COSM13145 SMO skin,face,carcinoma,NS c.595C>T p.R199W 7:129205260-129205260 0

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

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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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