POROK6
MCID: PRK084
MIFTS: 16

Porokeratosis 6, Multiple Types (POROK6)

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

Aliases & Classifications for Porokeratosis 6, Multiple Types

MalaCards integrated aliases for Porokeratosis 6, Multiple Types:

Name: Porokeratosis 6, Multiple Types 57
Porokeratosis, Disseminated Superficial Actinic, 4 57 70
Porokeratosis, Disseminated Superficial Actinic, 4; Dsap4 57
Porokeratosis 6, Disseminated Superficial 57
Porok6 57
Dsap4 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset before age 20 years
lesions increase in size and number with age
one chinese family has been reported (last curated october 2012)


HPO:

31
porokeratosis 6, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 612353
OMIM Phenotypic Series 57 PS175800
MedGen 41 C2676508
SNOMED-CT via HPO 68 263681008 80432009
UMLS 70 C2676508

Summaries for Porokeratosis 6, Multiple Types

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), reports of several families with expression of more than one variant of porokeratosis among members, and of 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). (612353) (Updated 05-Apr-2021)

MalaCards based summary : Porokeratosis 6, Multiple Types, also known as porokeratosis, disseminated superficial actinic, 4, is related to porokeratosis. An important gene associated with Porokeratosis 6, Multiple Types is POROK6 (Porokeratosis, Disseminated Superficial Actinic, 4). Related phenotype is porokeratosis.

Related Diseases for Porokeratosis 6, Multiple Types

Diseases in the Porokeratosis family:

Porokeratosis 1, Multiple Types Porokeratosis 3, Multiple Types
Porokeratosis 6, Multiple Types Porokeratosis 7, Multiple Types
Porokeratosis 9, Multiple Types

Diseases related to Porokeratosis 6, Multiple Types via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 porokeratosis 11.0

Symptoms & Phenotypes for Porokeratosis 6, Multiple Types

Human phenotypes related to Porokeratosis 6, Multiple Types:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skin Nails Hair Skin:
porokeratosis
annular lesions (3 mm to 1 cm in diameter) located on the face, neck, trunk and limbs
papules enlarge centrifugally to form central atrophic area with an irregular peripheral keratotic ridge
linear porokeratosis (1 patient)

Skin Nails Hair Skin Histology:
cornoid lamella
keratotic ridge is column of parakeratotic cells overlying absent granular layer

Clinical features from OMIM®:

612353 (Updated 05-Apr-2021)

Drugs & Therapeutics for Porokeratosis 6, Multiple Types

Search Clinical Trials , NIH Clinical Center for Porokeratosis 6, Multiple Types

Genetic Tests for Porokeratosis 6, Multiple Types

Anatomical Context for Porokeratosis 6, Multiple Types

Publications for Porokeratosis 6, Multiple Types

Articles related to Porokeratosis 6, Multiple Types:

# Title Authors PMID Year
1
Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis. 57
22983302 2012
2
A novel locus for disseminated superficial porokeratosis maps to chromosome 18p11.3. 57
15482473 2004
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
5
A novel locus for disseminated superficial actinic porokeratosis maps to chromosome 16q24.1-24.3. 61
21161278 2011

Variations for Porokeratosis 6, Multiple Types

Expression for Porokeratosis 6, Multiple Types

Search GEO for disease gene expression data for Porokeratosis 6, Multiple Types.

Pathways for Porokeratosis 6, Multiple Types

GO Terms for Porokeratosis 6, Multiple Types

Sources for Porokeratosis 6, Multiple Types

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