MCID: PRK067
MIFTS: 14

Porokeratosis 8, Disseminated Superficial Actinic Type

Categories: Genetic diseases, Rare 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 75 6 73
Porok8 57 75
Porokeratosis, Type 8, Disseminated Superficial Actinic Type 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in second and third decades of life


HPO:

32
porokeratosis 8, disseminated superficial actinic type:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 616063
MeSH 44 D017499
UMLS 73 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)

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 : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

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

32
# Description HPO Frequency HPO Source Accession
1 papule 32 HP:0200034
2 porokeratosis 32 HP:0200044

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:

41
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:

75
# 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

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 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
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40 LOVD
42 MedGen
44 MeSH
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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
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