POROK4
MCID: PRK095
MIFTS: 14

Porokeratosis 4, Disseminated Superficial Actinic Type (POROK4)

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

Aliases & Classifications for Porokeratosis 4, Disseminated Superficial Actinic Type

MalaCards integrated aliases for Porokeratosis 4, Disseminated Superficial Actinic Type:

Name: Porokeratosis 4, Disseminated Superficial Actinic Type 57
Porokeratosis 4, Disseminated Superficial Actinic 57 13
Porokeratosis, Disseminated Superficial Actinic 2 20 70
Dsap2 57 20
Porokeratosis, Disseminated Superficial Actinic, 2; Dsap2 57
Porokeratosis, Disseminated Superficial Actinic, 2 57
Disseminated Superficial Actinic Porokeratosis 2 20
Porok4 57

Classifications:



External Ids:

OMIM® 57 607728
OMIM Phenotypic Series 57 PS175800
UMLS 70 C1843180

Summaries for Porokeratosis 4, 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 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 as well as individuals expressing more than one variant have been reported, suggesting 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. (607728) (Updated 20-May-2021)

MalaCards based summary : Porokeratosis 4, Disseminated Superficial Actinic Type, also known as porokeratosis 4, disseminated superficial actinic, is related to porokeratosis. An important gene associated with Porokeratosis 4, Disseminated Superficial Actinic Type is POROK4 (Disseminated Superficial Actinic Porokeratosis 2).

Related Diseases for Porokeratosis 4, Disseminated Superficial Actinic Type

Diseases in the Porokeratosis 8, Disseminated Superficial Actinic Type family:

Porokeratosis 4, Disseminated Superficial Actinic Type Porokeratosis 5, Disseminated Superficial Actinic Type

Diseases related to Porokeratosis 4, Disseminated Superficial Actinic Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 porokeratosis 11.1

Symptoms & Phenotypes for Porokeratosis 4, Disseminated Superficial Actinic Type

Clinical features from OMIM®:

607728 (Updated 20-May-2021)

Drugs & Therapeutics for Porokeratosis 4, Disseminated Superficial Actinic Type

Search Clinical Trials , NIH Clinical Center for Porokeratosis 4, Disseminated Superficial Actinic Type

Genetic Tests for Porokeratosis 4, Disseminated Superficial Actinic Type

Anatomical Context for Porokeratosis 4, Disseminated Superficial Actinic Type

Publications for Porokeratosis 4, Disseminated Superficial Actinic Type

Articles related to Porokeratosis 4, Disseminated Superficial Actinic Type:

# Title Authors PMID Year
1
A novel locus (DSAP2) for disseminated superficial actinic porokeratosis maps to chromosome 15q25.1-26.1. 57 61
12366408 2002
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
Identification of a locus for disseminated superficial actinic porokeratosis at chromosome 12q23.2-24.1. 57
10844547 2000
5
Porokeratosis of Mibelli. Overview and review of the literature. 57
9188872 1997
6
Identification of a genetic locus for autosomal dominant disseminated superficial actinic porokeratosis on chromosome 1p31.3-p31.1. 61
18443824 2008
7
[Refinement of DSAP1 locus and mutation detection for candidate genes]. 61
16078733 2005

Variations for Porokeratosis 4, Disseminated Superficial Actinic Type

Expression for Porokeratosis 4, Disseminated Superficial Actinic Type

Search GEO for disease gene expression data for Porokeratosis 4, Disseminated Superficial Actinic Type.

Pathways for Porokeratosis 4, Disseminated Superficial Actinic Type

GO Terms for Porokeratosis 4, Disseminated Superficial Actinic Type

Sources for Porokeratosis 4, 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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