MCID: PRK076
MIFTS: 22

Porokeratosis 2, Palmar, Plantar, and Disseminated Type

Categories: Skin diseases, Rare 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 57
Porokeratosis 2, Palmar, Plantar, and Disseminated 57 13
Porokeratosis Plantaris Palmaris Et Disseminata 57 59
Porokeratosis, Palmar, Plantar, and Disseminated, 1; Pppd1 57
Porokeratosis, Palmar, Plantar, and Disseminated; Pppd 57
Porokeratosis, Palmar, Plantar, and Disseminated, 1 57
Porokeratosis, Palmar, Plantar, and Disseminated 57
Porokeratosis Palmaris Et Plantaris Disseminata 57
Palmar, Plantar and Disseminated Porokeratosis 59
Porokeratosis, Palmoplantar 73
Porok2 57
Pppd1 57
Pppd 57

Characteristics:

Orphanet epidemiological data:

59
porokeratosis plantaris palmaris et disseminata
Inheritance: Autosomal dominant,X-linked dominant; Age of onset: Adolescent,Adult; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
porokeratosis 2, palmar, plantar, and disseminated type:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 175850
Orphanet 59 ORPHA737
UMLS via Orphanet 74 C0162838
ICD10 via Orphanet 34 Q82.8
MedGen 42 C0162838
UMLS 73 C0162838

Summaries for Porokeratosis 2, Palmar, Plantar, and Disseminated 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), 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 pancreatitis. 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 palmoplantar keratoderma and generalized hyperkeratosis

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 10.9
2 pancreatitis 10.0

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

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 palmoplantar keratoderma 59 32 hallmark (90%) Very frequent (99-80%) HP:0000982
2 generalized hyperkeratosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0005595
3 aplasia/hypoplasia of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0008065
4 neoplasm of the skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0008069
5 palmar telangiectasia 32 HP:0100869
6 plantar telangiectasia 32 HP:0100870
7 porokeratosis 32 HP:0200044

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:

41
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 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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