POROK2
MCID: PRK076
MIFTS: 26

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 57
Porokeratosis 2, Palmar, Plantar, and Disseminated 57 13
Porokeratosis Plantaris Palmaris Et Disseminata 57 58
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 58
Porokeratosis, Palmoplantar 70
Porok2 57
Pppd1 57
Pppd 57

Characteristics:

Orphanet epidemiological data:

58
porokeratosis plantaris palmaris et disseminata
Inheritance: Autosomal dominant,X-linked dominant; Age of onset: Adolescent,Adult; Age of death: normal life expectancy;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
porokeratosis 2, palmar, plantar, and disseminated type:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

OMIM® 57 175850
OMIM Phenotypic Series 57 PS175800
ICD10 via Orphanet 33 Q82.8
UMLS via Orphanet 71 C0162838
Orphanet 58 ORPHA737
MedGen 41 C0162838
UMLS 70 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) (Updated 20-May-2021)

MalaCards based summary : Porokeratosis 2, Palmar, Plantar, and Disseminated Type, also known as porokeratosis 2, palmar, plantar, and disseminated, is related to porokeratosis and congenital heart defects, hamartomas of tongue, and polysyndactyly. An important gene associated with Porokeratosis 2, Palmar, Plantar, and Disseminated Type is POROK2 (Porokeratosis, Palmar, Plantar, And Disseminated 1). Affiliated tissues include lymph node, heart and tongue, 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 11.0
2 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.4
3 keratosis 10.4
4 alopecia 10.4
5 erythrokeratoderma ''en cocardes'' 10.4
6 linear porokeratosis 10.4
7 punctate porokeratosis 10.4
8 migraine with or without aura 1 9.9
9 peritonitis 9.9
10 pathologic nystagmus 9.9

Graphical network of the top 20 diseases related to Porokeratosis 2, Palmar, Plantar, and Disseminated Type:



Diseases related to Porokeratosis 2, Palmar, Plantar, and Disseminated Type

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

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

58 31 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 generalized hyperkeratosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0005595
2 palmoplantar keratoderma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000982
3 aplasia/hypoplasia of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0008065
4 neoplasm of the skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0008069
5 porokeratosis 31 HP:0200044
6 palmar telangiectasia 31 HP:0100869
7 plantar telangiectasia 31 HP:0100870

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Prognostic Impact of Extracapsular Lymph Node Involvement (ECLNI) in Ductal Pancreatic Adenocarcinoma (DPAC). Completed NCT00644254
2 Impact of Braun Anastomosis on Reduction in Delayed Gastric Emptying Following Pancreaticoduodenectomy Completed NCT01787955
3 Effect of Enteral Nutrition on Delayed Gastric Emptying After Pancreaticoduodenectomy: A Prospective, Randomized Controlled Trial Completed NCT03150615

Search 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:

40
Lymph Node, Heart, Tongue, Liver, Skin

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

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

(show all 20)
# Title Authors PMID Year
1
Porokeratosis plantaris, palmaris, et disseminata. A third type of porokeratosis. 57 61
5114411 1971
2
Identification of a locus for porokeratosis palmaris et plantaris disseminata to a 6.9-cM region at chromosome 12q24.1-24.2. 57
12932230 2003
3
Porokeratosis of Mibelli. Overview and review of the literature. 57
9188872 1997
4
Porokeratosis Plantaris, Palmaris et Disseminata Caused by Con- genital Pathogenic Variants in the MVD Gene and Loss of Hetero-zygosity in Affected Skin. 61
33491095 2021
5
A case of porokeratosis plantaris palmaris et disseminata and literature review. 61
22948055 2012
6
Porokeratosis plantaris, palmaris, et disseminata. 61
21163173 2010
7
Porokeratosis plantaris, palmaris, et disseminata. 61
14594607 2003
8
A sporadic case of porokeratosis plantaris palmaris et disseminata. 61
9580830 1998
9
[Porokeratosis plantaris, palmaris et disseminataa with multiple filiform hyperkeratoses and nail dystrophy]. 61
8567274 1995
10
Porokeratosis plantaris palmaris et disseminata. 61
20952876 1995
11
Linear and punctate porokeratosis associated with end-stage liver disease. 61
1761774 1991
12
Porokeratoses: immunohistochemical, light and electron microscopic evaluation. 61
1999539 1991
13
Unusual presentation of porokeratosis palmaris, plantaris et disseminata. 61
2530255 1989
14
[Palmoplantar and disseminated porokeratosis: immunohistochemical study]. 61
2533647 1989
15
[Disseminated superficial actinic porokeratosis with Bowen's disease]. 61
3042698 1988
16
Porokeratosis plantaris, palmaris, et disseminata. 61
2943230 1986
17
Porokeratosis plantaris, palmaris, et disseminata. Report of a case and treatment with isotretinoin. 61
2934437 1985
18
[Porokeratosis plantaris, palmaris et disseminata]. 61
2931406 1985
19
[Porokeratosis plantaris, palmaris et disseminata]. 61
2931404 1985
20
Porokeratosis plantaris palmaris et disseminata. 61
6237133 1984

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