POROK2
MCID: PRK076
MIFTS: 22

Porokeratosis 2, Palmar, Plantar, and Disseminated Type (POROK2)

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Porokeratosis 2, Palmar, Plantar, and Disseminated Type

MalaCards integrated aliases for Porokeratosis 2, Palmar, Plantar, and Disseminated Type:

Name: Porokeratosis 2, Palmar, Plantar, and Disseminated Type 58
Porokeratosis 2, Palmar, Plantar, and Disseminated 58 13
Porokeratosis Plantaris Palmaris Et Disseminata 58 60
Porokeratosis, Palmar, Plantar, and Disseminated, 1; Pppd1 58
Porokeratosis, Palmar, Plantar, and Disseminated; Pppd 58
Porokeratosis, Palmar, Plantar, and Disseminated, 1 58
Porokeratosis, Palmar, Plantar, and Disseminated 58
Porokeratosis Palmaris Et Plantaris Disseminata 58
Palmar, Plantar and Disseminated Porokeratosis 60
Porokeratosis, Palmoplantar 74
Porok2 58
Pppd1 58
Pppd 58

Characteristics:

Orphanet epidemiological data:

60
porokeratosis plantaris palmaris et disseminata
Inheritance: Autosomal dominant,X-linked dominant; Age of onset: Adolescent,Adult; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
porokeratosis 2, palmar, plantar, and disseminated type:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

OMIM 58 175850
ICD10 via Orphanet 35 Q82.8
UMLS via Orphanet 75 C0162838
Orphanet 60 ORPHA737
MedGen 43 C0162838
UMLS 74 C0162838

Summaries for Porokeratosis 2, Palmar, Plantar, and Disseminated 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), families with expression of more than one variant of porokeratosis among members, and individuals expressing more than one variant, have been reported, suggesting that the distinctions among these variants may be artificial. Porokeratosis palmaris plantaris et disseminata (PPPD) is a subtype in which lesions initially develop on the palms and soles, but later involve other parts of the body, including the trunk and limbs (Wei et al., 2003). For a discussion of genetic heterogeneity of porokeratosis, see 174800. (175850)

MalaCards based summary : Porokeratosis 2, Palmar, Plantar, and Disseminated Type, also known as porokeratosis 2, palmar, plantar, and disseminated, is related to porokeratosis and squamous cell carcinoma. An important gene associated with Porokeratosis 2, Palmar, Plantar, and Disseminated Type is POROK2 (Porokeratosis, Palmar, Plantar, And Disseminated 1). Affiliated tissues include skin, and related phenotypes are generalized hyperkeratosis and palmoplantar keratoderma

Related Diseases for Porokeratosis 2, Palmar, Plantar, and Disseminated Type

Diseases related to Porokeratosis 2, Palmar, Plantar, and Disseminated Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 porokeratosis 11.1
2 squamous cell carcinoma 10.6
3 gastroparesis 10.3

Symptoms & Phenotypes for Porokeratosis 2, Palmar, Plantar, and Disseminated Type

Human phenotypes related to Porokeratosis 2, Palmar, Plantar, and Disseminated Type:

60 33 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 generalized hyperkeratosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0005595
2 palmoplantar keratoderma 60 33 hallmark (90%) Very frequent (99-80%) HP:0000982
3 aplasia/hypoplasia of the skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0008065
4 neoplasm of the skin 60 33 occasional (7.5%) Occasional (29-5%) HP:0008069
5 palmar telangiectasia 33 HP:0100869
6 porokeratosis 33 HP:0200044
7 plantar telangiectasia 33 HP:0100870

Symptoms via clinical synopsis from OMIM:

58
Skin:
porokeratosis of palms and soles
annular or gyrate plaques with elevated borders
telangiectases of palms and soles

Misc:
onset in second and third decade

Clinical features from OMIM:

175850

Drugs & Therapeutics for Porokeratosis 2, Palmar, Plantar, and Disseminated Type

Search Clinical Trials , NIH Clinical Center for Porokeratosis 2, Palmar, Plantar, and Disseminated Type

Genetic Tests for Porokeratosis 2, Palmar, Plantar, and Disseminated Type

Anatomical Context for Porokeratosis 2, Palmar, Plantar, and Disseminated Type

MalaCards organs/tissues related to Porokeratosis 2, Palmar, Plantar, and Disseminated Type:

42
Skin

Publications for Porokeratosis 2, Palmar, Plantar, and Disseminated Type

Articles related to Porokeratosis 2, Palmar, Plantar, and Disseminated Type:

# Title Authors Year
1
A case of porokeratosis plantaris palmaris et disseminata and literature review. ( 22948055 )
2012
2
Porokeratosis plantaris, palmaris, et disseminata. ( 21163173 )
2010
3
Porokeratosis plantaris, palmaris, et disseminata. ( 14594607 )
2003
4
A sporadic case of porokeratosis plantaris palmaris et disseminata. ( 9580830 )
1998
5
Porokeratosis plantaris palmaris et disseminata. ( 20952876 )
1995
6
Porokeratosis plantaris, palmaris, et disseminata. ( 2943230 )
1986
7
Porokeratosis plantaris, palmaris, et disseminata. Report of a case and treatment with isotretinoin. ( 2934437 )
1985
8
Porokeratosis plantaris palmaris et disseminata. ( 6237133 )
1984
9
Porokeratosis plantaris, palmaris, et disseminata. A third type of porokeratosis. ( 5114411 )
1971

Variations for Porokeratosis 2, Palmar, Plantar, and Disseminated Type

Expression for Porokeratosis 2, Palmar, Plantar, and Disseminated Type

Search GEO for disease gene expression data for Porokeratosis 2, Palmar, Plantar, and Disseminated Type.

Pathways for Porokeratosis 2, Palmar, Plantar, and Disseminated Type

GO Terms for Porokeratosis 2, Palmar, Plantar, and Disseminated Type

Sources for Porokeratosis 2, Palmar, Plantar, and Disseminated 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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