MCID: PLM029
MIFTS: 43

Palmoplantar Keratosis malady

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Palmoplantar Keratosis

Aliases & Descriptions for Palmoplantar Keratosis:

Name: Palmoplantar Keratosis 12 14 69
Keratoderma, Palmoplantar 50 29 42
Palmoplantar Keratoderma 12 50
Keratoderma, Palmoplantar, Diffuse 69
Keratosis Palmaris Et Plantaris 12
Keratoderma Palmoplantar 52

Classifications:



External Ids:

Disease Ontology 12 DOID:3390
ICD10 33 L85.2
MeSH 42 D007645
NCIt 47 C34748
UMLS 69 C0022596

Summaries for Palmoplantar Keratosis

NIH Rare Diseases : 50 palmoplantar keratoderma (ppk) is a group of skin conditions characterized by thickening of the skin on the palms of the hands and soles of the feet. ppk can also be a feature of various underlying syndromes. in rare forms of ppk, organs other than the skin may also be affected. ppk can be either acquired during the lifetime (more commonly) or inherited. acquired ppks may arise due to changes in a person's health or environment. inherited ppks are caused by genetic mutations that result in abnormalities of keratin, a skin protein. depending on the genetic cause, inheritance can be autosomal dominant or autosomal recessive. treatment is aimed at softening the thickened skin to make it less noticeable and relieve discomfort. last updated: 12/29/2016

MalaCards based summary : Palmoplantar Keratosis, also known as keratoderma, palmoplantar, is related to keratoderma, palmoplantar, with deafness and palmoplantar keratoderma, nonepidermolytic. An important gene associated with Palmoplantar Keratosis is CTSC (Cathepsin C), and among its related pathways/superpathways are Developmental Biology and Keratinization. The drugs Etanercept and Analgesics have been mentioned in the context of this disorder. Affiliated tissues include skin, and related phenotype is integument.

Disease Ontology : 12 A keratosis characterized by abnormal thickening of the palms and the soles.

Wikipedia : 71 Meleda disease (MDM) or \"mal de Meleda\", also called Mljet disease, keratosis palmoplantaris and... more...

Related Diseases for Palmoplantar Keratosis

Diseases related to Palmoplantar Keratosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 84)
id Related Disease Score Top Affiliating Genes
1 keratoderma, palmoplantar, with deafness 33.4 GJB2 GJB3
2 palmoplantar keratoderma, nonepidermolytic 31.7 KRT1 KRT10
3 palmoplantar keratoderma and woolly hair 12.4
4 keratosis palmaris et plantaris with clinodactyly 12.4
5 keratoderma, palmoplantar, punctate type ia 12.2
6 keratoderma palmoplantar spastic paralysis 12.0
7 keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy 11.9
8 palmoplantar keratoderma, nagashima type 11.1
9 papillon-lefevre syndrome 10.9
10 haim-munk syndrome 10.9
11 tyrosinemia, type ii 10.9
12 meleda disease 10.9
13 punctate palmoplantar keratoderma 10.9
14 palmoplantar keratoderma, epidermolytic 10.9
15 keratosis 10.5
16 periodontitis 1, juvenile 10.2 CTSC SLURP1
17 cardiomyopathy, dilated, 1bb 10.2 DSG1 DSP
18 branchiooculofacial syndrome 10.2 DSP JUP
19 skin fragility-woolly hair syndrome 10.2 DSP JUP
20 gupta patton syndrome 10.2 DSP JUP
21 pallister-killian syndrome 10.2 DSP JUP
22 codas syndrome 10.2 DSP JUP
23 epidermolysis bullosa, lethal acantholytic 10.2 DSP JUP
24 bradyopsia 10.2 KRT1 KRT10
25 choanal atresia and lymphedema 10.2 DSP JUP
26 klippel-feil syndrome 2 10.2 DSP JUP
27 episodic angioedema with eosinophilia 10.2 KRT1 KRT10
28 peripheral t-cell lymphoma 10.2 DSG1 DSP
29 subglottis verrucous carcinoma 10.2 KRT1 KRT10
30 chromosome 15q11-q13 duplication syndrome 10.2 DSP JUP
31 mixed cell adenoma 10.2 KRT1 KRT10
32 ventricular tachycardia, catecholaminergic polymorphic, 4 10.1 DSP JUP
33 pneumonia caused by pseudomonas aeruginosa infection 10.1 DSG1 DSP KRT1
34 fibular hemimelia, bilateral 10.1 DSP JUP
35 ectodermal dysplasia 2, clouston type 10.1 GJB2 LOR
36 thymus mucoepidermoid carcinoma 10.1 KRT1 KRT10
37 fibular hemimelia, unilateral 10.1 DSP JUP
38 craniodiaphyseal dysplasia, autosomal dominant 10.1 KRT10 KRT16
39 erdheim-chester disease 10.1 KRT1 KRT10 KRT9
40 chronic mountain sickness 10.1 KRT1 KRT16 KRT9
41 congenital absence of upper arm and forearm with hand present, bilateral 10.1 DSP JUP
42 white sponge nevus 1 10.1 KRT1 KRT16 KRT9
43 squamous cell carcinoma 10.1 KRT1 KRT10 KRT9
44 brachydactyly small stature face anomalies 10.1 KRT10 KRT16
45 bronchiolitis obliterans with obstructive pulmonary disease 10.1 KRT10 KRT16
46 hypoplastic left heart syndrome 1 10.1 GJB2 LOR
47 lipoma 10.1 DSG1 DSP JUP
48 hereditary thrombocytosis with transverse limb defect 10.1 GJB2 GJB3
49 pol iii-related leukodystrophies 10.1 DSG1 DSP JUP
50 pompholyx 10.1 DSG1 DSP JUP

Graphical network of the top 20 diseases related to Palmoplantar Keratosis:



Diseases related to Palmoplantar Keratosis

Symptoms & Phenotypes for Palmoplantar Keratosis

MGI Mouse Phenotypes related to Palmoplantar Keratosis:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.23 CTSC DSP GJB2 GJB3 JUP KRT1

Drugs & Therapeutics for Palmoplantar Keratosis

Drugs for Palmoplantar Keratosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 16)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Etanercept Approved, Investigational Phase 3 185243-69-0
2 Analgesics Phase 3
3 Analgesics, Non-Narcotic Phase 3
4 Anti-Inflammatory Agents Phase 3
5 Anti-Inflammatory Agents, Non-Steroidal Phase 3
6 Antirheumatic Agents Phase 3
7 Gastrointestinal Agents Phase 3
8 Immunosuppressive Agents Phase 3
9 Peripheral Nervous System Agents Phase 3
10
Acitretin Approved 55079-83-9 6437841 5284513
11 Dermatologic Agents
12 Keratolytic Agents
13 Contraceptive Agents
14 Contraceptives, Oral
15 Interferon-gamma
16 interferons

Interventional clinical trials:


id Name Status NCT ID Phase
1 Treatment of the Recessive Nonbullous Congenital Ichthyosis by the Epigallocatechine Cutaneous Unknown status NCT01222000 Phase 3
2 A Placebo-Controlled Double-Blind Study on the Safety and Efficacy of Etanercept in Palmoplantar Pustulosis Completed NCT00353119 Phase 3
3 The Evaluation of Oral Acitretin in the Treatment of Psoriasis, Cutaneous Disorders of Keratinization, Multiple Basal Cell Carcinomas and Other Retinoid Responsive Diseases Completed NCT00005660
4 Cytokines in Papillon-Lefèvre Syndrome Completed NCT01116934

Search NIH Clinical Center for Palmoplantar Keratosis

Cochrane evidence based reviews: keratoderma, palmoplantar

Genetic Tests for Palmoplantar Keratosis

Genetic tests related to Palmoplantar Keratosis:

id Genetic test Affiliating Genes
1 Palmoplantar Keratoderma 29

Anatomical Context for Palmoplantar Keratosis

MalaCards organs/tissues related to Palmoplantar Keratosis:

39
Skin

Publications for Palmoplantar Keratosis

Articles related to Palmoplantar Keratosis:

(show all 29)
id Title Authors Year
1
Nagashima-type palmoplantar keratosis in a Chinese Han population. ( 27666198 )
2016
2
A sporadic case of Nagashima-type palmoplantar keratosis caused by gene mutation in SERPINB7. ( 27663160 )
2016
3
Progressive Nagashima-type palmoplantar keratosis in a Chinese patient with recurrent c.796C>T mutation in SERPINB7. ( 27506501 )
2016
4
Novel frame-shift mutation in SERPINB7 in a Japanese patient with Nagashima-type palmoplantar keratosis. ( 27569382 )
2016
5
Identification and Characterization of a Recessive Missense Mutation p.P277L in SERPINB7 in Nagashima-Type Palmoplantar Keratosis. ( 26763456 )
2016
6
Extensive Erythema and Hyperkeratosis on the Extremities and Lumbar Area as an Unusual Mani-festation of Nagashima-type Palmoplantar Keratosis. ( 26926003 )
2016
7
Identification of SERPINB7 mutations in Korean patients with Nagashima-type palmoplantar keratosis. ( 27543371 )
2016
8
Identification and Characterization of a Recessive Missense Mutation p.P277L in SERPINB7 in Nagashima-Type Palmoplantar Keratosis. ( 26334323 )
2015
9
Identification of previously unknown SERPINB7 splice variants in patients with Nagashima-type palmoplantar keratosis reveals the importance of the CD-loop of SERPINB7. ( 25940237 )
2015
10
Possible cases of Nagashima-type palmoplantar keratosis? Comment on the article by Guo et al. ( 26453541 )
2015
11
Nagashima-type palmoplantar keratosis caused by compound heterozygous mutations in SERPINB7. ( 25788444 )
2015
12
Malignant melanoma arising in the skin lesions of Nagashima-type palmoplantar keratosis. ( 24721785 )
2014
13
Nagashima-type palmoplantar keratosis: a common Asian type caused by SERPINB7 protease inhibitor deficiency. ( 25029323 )
2014
14
Palmoplantar keratosis in oculodentodigital dysplasia with a GJA1 point mutation out of the C-terminal region of connexin 43. ( 25388818 )
2014
15
Highly prevalent SERPINB7 founder mutation causes pseudodominant inheritance pattern in Nagashima-type palmoplantar keratosis. ( 24773080 )
2014
16
New and recurrent SERPINB7 mutations in seven Chinese patients with Nagashima-type palmoplantar keratosis. ( 24514002 )
2014
17
Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause Nagashima-type palmoplantar keratosis. ( 24207119 )
2013
18
Possible nagashima-type palmoplantar keratosis in two siblings. ( 23626539 )
2013
19
Suspected Nagashima-type palmoplantar keratosis with atypical hyperkeratotic lesions on the ears. ( 22640937 )
2012
20
Atypical nail dystrophy in a possible case of Nagashima-type palmoplantar keratosis. ( 21950725 )
2012
21
A familial case of Nagashima-type palmoplantar keratosis. ( 20542838 )
2010
22
Dermatitis herpetiformis Duhring with palmoplantar keratosis. ( 14674919 )
2003
23
Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis. ( 10581027 )
1999
24
Hereditary palmoplantar keratosis of the Gamborg Nielsen type. Clinical and ultrastructural characteristics of a new type of autosomal recessive palmoplantar keratosis. ( 2260881 )
1990
25
Cardiac abnormalities in familial palmoplantar keratosis. ( 2945574 )
1986
26
Punctate palmoplantar keratosis acuminata. An unusual form of tuberculid. ( 7174181 )
1982
27
Palmoplantar keratosis acuminata with facial sebaceous hyperplasia. ( 4809220 )
1974
28
Myasthenia with systemic lupus and palmoplantar keratosis. ( 5124413 )
1971
29
[Palmoplantar keratosis of Darier's disease and multiple abnormalities. Ultrastructural study]. ( 5562223 )
1971

Variations for Palmoplantar Keratosis

Expression for Palmoplantar Keratosis

Search GEO for disease gene expression data for Palmoplantar Keratosis.

Pathways for Palmoplantar Keratosis

Pathways related to Palmoplantar Keratosis according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.77 DSG1 DSP JUP KRT1 KRT10 KRT16
2
Show member pathways
11.68 DSG1 DSP JUP KRT1 KRT10 KRT16
3
Show member pathways
11.37 DSP KRT1 KRT16
4 10.76 DSP JUP

GO Terms for Palmoplantar Keratosis

Cellular components related to Palmoplantar Keratosis according to GeneCards Suite gene sharing:

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.97 CTSC KRT1 KRT10 KRT9 SERPINB7 SLURP1
2 extracellular exosome GO:0070062 9.97 CTSC DSG1 DSP JUP KRT1 KRT10
3 cell junction GO:0030054 9.85 DSG1 DSP GJB2 GJB3 JUP
4 extracellular matrix GO:0031012 9.73 DSG1 DSP JUP KRT1
5 cell-cell junction GO:0005911 9.56 DSG1 DSP GJB3 JUP
6 lateral plasma membrane GO:0016328 9.54 DSG1 GJB2 JUP
7 gap junction GO:0005921 9.51 GJB2 GJB3
8 connexin complex GO:0005922 9.48 GJB2 GJB3
9 intermediate filament GO:0005882 9.43 DSP JUP KRT1 KRT10 KRT16 KRT9
10 fascia adherens GO:0005916 9.4 DSP JUP
11 desmosome GO:0030057 9.33 DSG1 DSP JUP
12 cornified envelope GO:0001533 9.1 DSG1 DSP JUP KRT1 KRT10 LOR

Biological processes related to Palmoplantar Keratosis according to GeneCards Suite gene sharing:

(show all 17)
id Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.8 CTSC DSG1 DSP JUP KRT1
2 aging GO:0007568 9.72 CTSC GJB2 KRT16
3 single organismal cell-cell adhesion GO:0016337 9.67 DSG1 DSP JUP
4 keratinocyte differentiation GO:0030216 9.67 DSP KRT10 KRT16 LOR
5 epidermis development GO:0008544 9.65 DSP KRT16 KRT9
6 peptide cross-linking GO:0018149 9.62 DSP KRT1 KRT10 LOR
7 adherens junction organization GO:0034332 9.57 DSP JUP
8 regulation of heart rate by cardiac conduction GO:0086091 9.56 DSP JUP
9 keratinization GO:0031424 9.56 DSG1 DSP JUP KRT1 KRT10 KRT16
10 establishment of skin barrier GO:0061436 9.54 KRT1 KRT16
11 intermediate filament cytoskeleton organization GO:0045104 9.52 DSP KRT16
12 intermediate filament organization GO:0045109 9.51 DSP KRT9
13 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.46 DSP JUP
14 skin development GO:0043588 9.46 DSP GJB3 JUP KRT9
15 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.43 DSP JUP
16 skin epidermis development GO:0098773 9.43 KRT1 KRT10 LOR
17 cornification GO:0070268 9.23 DSG1 DSP JUP KRT1 KRT10 KRT16

Molecular functions related to Palmoplantar Keratosis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 structural constituent of cytoskeleton GO:0005200 9.46 DSP KRT16 KRT9 LOR
2 structural molecule activity GO:0005198 9.35 DSP JUP KRT1 KRT16 LOR
3 gap junction channel activity GO:0005243 9.32 GJB2 GJB3
4 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 9.26 DSP JUP
5 structural constituent of epidermis GO:0030280 8.8 KRT1 KRT10 LOR

Sources for Palmoplantar Keratosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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