MCID: PRK084
MIFTS: 18

Porokeratosis 6, Multiple Types

Categories: 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 73
Porokeratosis, Disseminated Superficial Actinic, 4; Dsap4 57
Porokeratosis 6, Disseminated Superficial 57
Porok6 57
Dsap4 57

Characteristics:

OMIM:

57
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:

32
porokeratosis 6, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 612353
MedGen 42 C2676508
SNOMED-CT via HPO 69 263681008 80432009
UMLS 73 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)

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). Affiliated tissues include skin, and 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 10.9

Symptoms & Phenotypes for Porokeratosis 6, Multiple Types

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Porokeratosis 6, Multiple Types:

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

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

MalaCards organs/tissues related to Porokeratosis 6, Multiple Types:

41
Skin

Publications for Porokeratosis 6, Multiple Types

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 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
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
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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