POROK4
MCID: PRK095
MIFTS: 13

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 58
Porokeratosis 4, Disseminated Superficial Actinic 58 13
Porokeratosis, Disseminated Superficial Actinic 2 54 74
Dsap2 58 54
Porokeratosis, Disseminated Superficial Actinic, 2; Dsap2 58
Porokeratosis, Disseminated Superficial Actinic, 2 58
Disseminated Superficial Actinic Porokeratosis 2 54
Porok4 58

Classifications:



External Ids:

OMIM 58 607728
UMLS 74 C1843180

Summaries for Porokeratosis 4, 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 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)

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). Affiliated tissues include skin.

Related Diseases for Porokeratosis 4, 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

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 11.4

Symptoms & Phenotypes for Porokeratosis 4, Disseminated Superficial Actinic Type

Clinical features from OMIM:

607728

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

MalaCards organs/tissues related to Porokeratosis 4, Disseminated Superficial Actinic Type:

42
Skin

Publications for Porokeratosis 4, Disseminated Superficial Actinic Type

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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