PPKP2
MCID: PLM163
MIFTS: 29

Palmoplantar Keratoderma, Punctate Type Ii (PPKP2)

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

Aliases & Classifications for Palmoplantar Keratoderma, Punctate Type Ii

MalaCards integrated aliases for Palmoplantar Keratoderma, Punctate Type Ii:

Name: Palmoplantar Keratoderma, Punctate Type Ii 57
Punctate Palmoplantar Keratoderma Type 2 20 58 6
Ppkp2 57 20 58
Pppp 57 20 58
Porokeratosis Punctata Palmaris Et Plantaris 57 73
Punctate Palmoplantar Hyperkeratosis Type 2 20 58
Porokeratosis Punctata Palmaris Et Plantaris; Pppp 57
Keratoderma, Palmoplantar, Punctate Type Ii 70
Punctate Palmoplantar Keratoderma Type Ii 12
Keratoderma Palmoplantar, Punctate Type 2 20
Porokeratosis, Palmoplantar 70
Type 2 Punctate Ppk 20

Characteristics:

Orphanet epidemiological data:

58
punctate palmoplantar keratoderma type 2
Inheritance: Autosomal dominant;

OMIM®:

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


HPO:

31
palmoplantar keratoderma, punctate type ii:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0080213
OMIM® 57 175860
ICD10 via Orphanet 33 Q82.8
UMLS via Orphanet 71 C1867982
Orphanet 58 ORPHA79502
MedGen 41 C1867982
SNOMED-CT via HPO 68 263681008 80432009
UMLS 70 C0162838 C1867982

Summaries for Palmoplantar Keratoderma, Punctate Type Ii

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79502 Definition Punctate palmoplantar keratoderma type 2 is a type of isolated, punctate, hereditary palmoplantar keratoderma characterized by multiple, asymptomatic, 1 to 2 mm-long, firm, hyperkeratotic projections ('spiny keratosis') on the palms, soles and digits (typically confined to their volar and/or lateral aspects). Histopathologically, compact columnar parakeratosis over hypo- or agranular epidermis is observed.

MalaCards based summary : Palmoplantar Keratoderma, Punctate Type Ii, also known as punctate palmoplantar keratoderma type 2, is related to punctate porokeratosis and palmoplantar keratoderma, punctate type ia. An important gene associated with Palmoplantar Keratoderma, Punctate Type Ii is BRCA1 (BRCA1 DNA Repair Associated). The drugs Ustekinumab and Dermatologic Agents have been mentioned in the context of this disorder. Affiliated tissues include t cells, brain and colon, and related phenotypes are porokeratosis and spinous keratoses of palms and soles

Disease Ontology : 12 A punctate palmoplantar keratoderma that is characterized by multiple, asymptomatic, 1 to 2 mm-long, firm, hyperkeratotic projections on the palms, soles and digits.

Wikipedia : 73 Palmoplantar keratodermas are a heterogeneous group of disorders characterized by abnormal thickening of... more...

More information from OMIM: 175860

Related Diseases for Palmoplantar Keratoderma, Punctate Type Ii

Diseases in the Punctate Palmoplantar Keratoderma family:

Palmoplantar Keratoderma, Punctate Type Iii Palmoplantar Keratoderma, Punctate Type Ia
Palmoplantar Keratoderma, Punctate Type Ii Palmoplantar Keratoderma, Punctate Type Ib

Diseases related to Palmoplantar Keratoderma, Punctate Type Ii via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 punctate porokeratosis 11.6
2 palmoplantar keratoderma, punctate type ia 10.9
3 punctate palmoplantar keratoderma 10.9
4 porokeratosis 10.5
5 pneumonia 10.1
6 pulmonary hypertension, primary, 3 9.9
7 purpura 9.9
8 pustulosis of palm and sole 9.9
9 agoraphobia 9.9
10 psoriasis 9.9
11 pustular psoriasis 9.9

Graphical network of the top 20 diseases related to Palmoplantar Keratoderma, Punctate Type Ii:



Diseases related to Palmoplantar Keratoderma, Punctate Type Ii

Symptoms & Phenotypes for Palmoplantar Keratoderma, Punctate Type Ii

Human phenotypes related to Palmoplantar Keratoderma, Punctate Type Ii:

31
# Description HPO Frequency HPO Source Accession
1 porokeratosis 31 HP:0200044
2 spinous keratoses of palms and soles 31 HP:0007613

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skin:
spinous keratoses of palms and soles

Clinical features from OMIM®:

175860 (Updated 05-Apr-2021)

Drugs & Therapeutics for Palmoplantar Keratoderma, Punctate Type Ii

Drugs for Palmoplantar Keratoderma, Punctate Type Ii (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ustekinumab Approved, Investigational Phase 3 815610-63-0
2 Dermatologic Agents Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Safety and Efficacy of Ustekinumab in the Treatment of Patients With Palmo-Plantar Pustular Psoriasis or With Palmo-Plantar Pustulosis Terminated NCT01091051 Phase 3 Ustekinumab;Placebo (Soduim Chloride)

Search NIH Clinical Center for Palmoplantar Keratoderma, Punctate Type Ii

Genetic Tests for Palmoplantar Keratoderma, Punctate Type Ii

Anatomical Context for Palmoplantar Keratoderma, Punctate Type Ii

MalaCards organs/tissues related to Palmoplantar Keratoderma, Punctate Type Ii:

40
T Cells, Brain, Colon

Publications for Palmoplantar Keratoderma, Punctate Type Ii

Articles related to Palmoplantar Keratoderma, Punctate Type Ii:

(show top 50) (show all 96)
# Title Authors PMID Year
1
Porokeratosis punctata palmaris et plantaris. A new entity? 57 61
2525006 1989
2
Linkage of an American pedigree with palmoplantar keratoderma and malignancy (palmoplantar ectodermal dysplasia type III) to 17q24. Literature survey and proposed updated classification of the keratodermas. 57
8651714 1996
3
Porokeratosis. 57
3740870 1986
4
Porokeratosis punctata palmaris et plantaris (punctate porokeratosis). Case report and literature review. 57
2933431 1985
5
Palmoplantar keratosis acuminata with facial sebaceous hyperplasia. 57
4809220 1974
6
Punctate keratoderma. 57
5131713 1971
7
Accounting for Differential Item Functioning Using Bayesian Approximate Measurement Invariance. 61
32616953 2020
8
The Reactivity of Phosphanylphosphinidene Complexes of Transition Metals Toward Terminal Dihaloalkanes. 61
32216307 2020
9
Tripsazea, a Novel Trihybrid of Zea mays, Tripsacum dactyloides, and Zeaperennis. 61
31792004 2020
10
Successful Treatment of Refractory Palmoplantar Pustular Psoriasis With Apremilast: A Case Series. 61
33178709 2020
11
Determination of Antioxidant and Antifungal Activities in Cookies Fortified with Solar Dried Prickly Pear Peels Powder. 61
32363815 2020
12
Marek's disease viruses circulating in commercial poultry in Italy in the years 2015-2018 are closely related by their meq gene phylogeny. 61
31411371 2020
13
Full-length transcriptome sequences of Agropyron cristatum facilitate the prediction of putative genes for thousand-grain weight in a wheat-A. cristatum translocation line. 61
31881839 2019
14
Deletion mapping and verification of an enhanced-grain number per spike locus from the 6PL chromosome arm of Agropyron cristatum in common wheat. 61
31309244 2019
15
Molecular characterization of the meq gene of Marek's disease viruses detected in unvaccinated backyard chickens reveals the circulation of low- and high-virulence strains. 61
30850833 2019
16
In silico minimalist approach to study 2D HP protein folding into an inhomogeneous space mimicking osmolyte effect: First trial in the search of foldameric backbones. 61
31029589 2019
17
GD3 ganglioside-enriched extracellular vesicles stimulate melanocyte migration. 61
29908366 2019
18
Refractory Palmoplantar Pustular Psoriasis Treated With High-Dose Ustekinumab After Initial Failure. 61
30141337 2019
19
Exploring beliefs about pneumococcal vaccination in a predominantly older African American population: the Pharmacists' Pneumonia Prevention Program (PPPP). 61
30175602 2018
20
Knowledge, Activation, and Costs of the Pharmacists' Pneumonia Prevention Program (PPPP): A Novel Senior Center Model to Promote Vaccination. 61
29172664 2018
21
On-Surface Synthesis of Highly Oriented Thin Metal-Organic Framework Films through Vapor-Assisted Conversion. 61
29542320 2018
22
Physical Localization of a Locus from Agropyron cristatum Conferring Resistance to Stripe Rust in Common Wheat. 61
29137188 2017
23
Preparing Trainees for Integrated Care: Triple Board and the Postpediatric Portal Program. 61
28916008 2017
24
Engineering of versatile redox partner fusions that support monooxygenase activity of functionally diverse cytochrome P450s. 61
28852040 2017
25
Mapping of novel powdery mildew resistance gene(s) from Agropyron cristatum chromosome 2P. 61
27771744 2017
26
Palmoplantar pustular psoriasis (PPPP) is characterized by activation of the IL-17A pathway. 61
27743912 2017
27
Chromosomal localization of genes conferring desirable agronomic traits from Agropyron cristatum chromosome 1P. 61
28394901 2017
28
Expanding the Group of Porous Interpenetrated Zr-Organic Frameworks (PIZOFs) with Linkers of Different Lengths. 61
28032763 2017
29
An intercalary translocation from Agropyron cristatum 6P chromosome into common wheat confers enhanced kernel number per spike. 61
27246315 2016
30
Cytological and molecular analysis of wheat - Agropyron cristatum translocation lines with 6P chromosome fragments conferring superior agronomic traits in common wheat. 61
27643577 2016
31
Genetic analysis of a novel broad-spectrum powdery mildew resistance gene from the wheat-Agropyron cristatum introgression line Pubing 74. 61
27125388 2016
32
Sequence analysis of Meq oncogene among Indian isolates of Marek's disease herpesvirus. 61
27617224 2016
33
Physical mapping of Agropyron cristatum chromosome 6P using deletion lines in common wheat background. 61
26920547 2016
34
Based on Molecular Profiling of Gene Expression, Palmoplantar Pustulosis and Palmoplantar Pustular Psoriasis Are Highly Related Diseases that Appear to Be Distinct from Psoriasis Vulgaris. 61
27152848 2016
35
Transferring Desirable Genes from Agropyron cristatum 7P Chromosome into Common Wheat. 61
27459347 2016
36
Production and Identification of Wheat-Agropyron cristatum 2P Translocation Lines. 61
26731742 2016
37
Design and improvement of artificial redox modules by molecular fusion of flavodoxin and flavodoxin reductase from Escherichia coli. 61
26177696 2015
38
The effects of chromosome 6P on fertile tiller number of wheat as revealed in wheat-Agropyron cristatum chromosome 5A/6P translocation lines. 61
25656149 2015
39
The effects of glucuronic acid and N-acetyl-D-glucosamine on in vitro fertilisation of porcine oocytes. 61
25585197 2015
40
Conformational control of oligo(p-phenyleneethynylene)s with intrinsic substituent electronic effects: origin of the twist in pentiptycene-containing systems. 61
25212481 2014
41
Increased expression of IL-17A and limited involvement of IL-23 in patients with palmo-plantar (PP) pustular psoriasis or PP pustulosis; results from a randomised controlled trial. 61
24112799 2014
42
Treatment for palmoplantar pustular psoriasis: systematic literature review, evidence-based recommendations and expert opinion. 61
24985558 2014
43
Coinage metal complexes supported by the tri- and tetraphosphine ligands. 61
24750114 2014
44
Genetic rearrangements of six wheat-agropyron cristatum 6P addition lines revealed by molecular markers. 61
24595330 2014
45
Polar localization of PhoN2, a periplasmic virulence-associated factor of Shigella flexneri, is required for proper IcsA exposition at the old bacterial pole. 61
24587292 2014
46
The more the merrier: recent hybridization and polyploidy in cardamine. 61
24082009 2013
47
Improved function in women with persistent pregnancy-related pelvic pain after a single corticosteroid injection to the ischiadic spine: a randomized double-blind controlled trial. 61
23713407 2013
48
Efficacy of ustekinumab in refractory palmoplantar pustular psoriasis. 61
23210683 2013
49
The Active Straight Leg Raise test in lumbopelvic pain during pregnancy. 61
22365484 2012
50
Severity of signs and symptoms in lumbopelvic pain during pregnancy. 61
22248704 2012

Variations for Palmoplantar Keratoderma, Punctate Type Ii

ClinVar genetic disease variations for Palmoplantar Keratoderma, Punctate Type Ii:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BRCA1 NM_007294.3(BRCA1):c.5266dupC (p.Gln1756Profs) Duplication Pathogenic 17677 rs80357906 GRCh37: 17:41209079-41209080
GRCh38: 17:43057062-43057063

Expression for Palmoplantar Keratoderma, Punctate Type Ii

Search GEO for disease gene expression data for Palmoplantar Keratoderma, Punctate Type Ii.

Pathways for Palmoplantar Keratoderma, Punctate Type Ii

GO Terms for Palmoplantar Keratoderma, Punctate Type Ii

Sources for Palmoplantar Keratoderma, Punctate Type Ii

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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