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MCID: PLM029
MIFTS: 48

Palmoplantar Keratosis

Categories: Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Palmoplantar Keratosis

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MalaCards integrated aliases for Palmoplantar Keratosis:

Name: Palmoplantar Keratosis 12 6 15 17 71
Palmoplantar Keratoderma 12 74 20 36 29 6
Keratoderma, Palmoplantar, Diffuse 71
Keratosis Palmaris Et Plantaris 12
Palmo-Plantar Keratodermas 12
Keratoderma, Palmoplantar 20
Keratoderma Palmoplantar 54

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Skin diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:3390
KEGG 36 H01673
SNOMED-CT 67 28596004
ICD10 32 L85.2
UMLS 71 C0022584 C0022596
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Summaries for Palmoplantar Keratosis

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GARD : 20 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.

MalaCards based summary : Palmoplantar Keratosis, also known as palmoplantar keratoderma, is related to keratoderma, palmoplantar, with deafness and palmoplantar keratoderma, nonepidermolytic, focal 1. An important gene associated with Palmoplantar Keratosis is GJB2 (Gap Junction Protein Beta 2), and among its related pathways/superpathways are Developmental Biology and Cytoskeletal Signaling. The drug Acitretin has been mentioned in the context of this disorder. Affiliated tissues include skin, tongue and eye, and related phenotypes are Decreased viability and Decreased viability

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

KEGG : 36 Palmoplantar keratodermas (PPK) comprise a heterogeneous group of keratinization disorders with hyperkeratotic thickening of palms and soles. Sporadic or acquired forms of PPKs and hereditary forms exist. The causes of acquired PPK vary, and include exposure to certain chemicals, side effects of certain drugs, and metabolic disorders. There is as yet no cure for hereditary PPK. In patients with acquired PPK, the cause should be treated or eliminated, if possible. In both instances, optimized treatment can lead to a significant improvement in symptoms. Topical therapy with urea-based ointments improves the skin's absorption of moisture and has keratolytic effects. Topical vitamin D therapy is another option.

Wikipedia : 74 Palmoplantar keratodermas are a heterogeneous group of disorders characterized by abnormal thickening of... more...

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Related Diseases for Palmoplantar Keratosis

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

(show top 50) (show all 404)
# Related Disease Score Top Affiliating Genes
1 keratoderma, palmoplantar, with deafness 33.3 GJB3 GJB2 GJA1
2 palmoplantar keratoderma, nonepidermolytic, focal 1 33.2 SLURP1 KRT9 KRT16
3 palmoplantar keratoderma and congenital alopecia 1 33.1 GJB3 GJB2 GJA1
4 palmoplantar keratoderma, nonepidermolytic, focal or diffuse 33.1 KRT17 KRT16
5 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige 33.1 DSP DSG1
6 palmoplantar keratoderma and woolly hair 33.0 JUP DSP
7 arrhythmogenic right ventricular dysplasia, familial, 11 32.9 PKP2 JUP DSP
8 hereditary palmoplantar keratoderma 32.7 KRT9 GJB2 DSG1
9 cardiomyopathy, dilated, with woolly hair and keratoderma 32.6 PKP2 JUP GJA1 DSP DSG1
10 ichthyosis hystrix, curth-macklin type 32.5 KRT5 KRT1
11 striate palmoplantar keratoderma 32.3 SERPINB7 KRT10 KRT1 DSP DSG1 CTSC
12 erythroderma, ichthyosiform, congenital reticular 32.3 KRT10 KRT1
13 focal palmoplantar keratoderma 32.3 KRT17 KRT16 GJB2 DSG1
14 punctate palmoplantar keratoderma 32.1 SERPINB7 GJB2 AAGAB
15 erythrokeratodermia variabilis et progressiva 1 32.1 LORICRIN KRT10 KRT1 GJB3 GJB2 GJA1
16 ectodermal dysplasia/skin fragility syndrome 32.0 JUP DSP
17 pachyonychia congenita 2 32.0 KRT17 KRT16
18 keratitis-ichthyosis-deafness syndrome, autosomal dominant 31.9 GJB2 GJA1
19 vohwinkel syndrome 31.8 LORICRIN GJB3 GJB2 GJA1
20 pachyonychia congenita 1 31.5 LORICRIN KRT9 KRT5 KRT17 KRT16 KRT10
21 palmoplantar keratoderma, epidermolytic 31.3 SERPINB7 KRT9 KRT17 KRT16 KRT10 KRT1
22 knuckle pads 31.1 KRT9 GJB3 GJB2 GJA1
23 alopecia 31.1 SASH1 GJA1 DSP
24 ainhum 31.0 LORICRIN GJB2
25 nonsyndromic hearing loss and deafness, dfnb1 31.0 GJB3 GJB2
26 dfnb1 30.9 GJB3 GJB2
27 palmoplantar keratoderma, nonepidermolytic 30.8 PKP2 KRT9 KRT17 KRT16 KRT1 JUP
28 bart-pumphrey syndrome 30.8 GJB3 GJB2 GJA1
29 deafness, autosomal dominant 3a 30.7 GJB3 GJB2
30 bullous pemphigoid 30.7 KRT5 DSP DSG1
31 arrhythmogenic right ventricular cardiomyopathy 30.7 PKP2 JUP GJA1 DSP
32 clouston syndrome 30.7 GJB3 GJB2 GJA1
33 hypotrichosis 30.6 KRT5 GJB3 GJB2 GJA1 DSG1 CTSC
34 pseudoainhum 30.5 LORICRIN GJB3 GJB2 GJA1
35 keratinopathic ichthyosis 30.5 KRT10 KRT1
36 epidermolysis bullosa, lethal acantholytic 30.5 JUP DSP
37 acrokeratoderma, hereditary papulotranslucent 30.5 KRT9 KRT1 GJB2
38 bowen's disease 30.4 KRT16 KRT10
39 lichen planus 30.4 KRT16 KRT10 KRT1 DSG1
40 erythrokeratoderma 30.4 LORICRIN GJB3 GJB2 GJA1
41 epidermolysis bullosa simplex with mottled pigmentation 30.4 KRT5 KRT10 DSP
42 ichthyosis, cyclic, with epidermolytic hyperkeratosis 30.4 KRT10 KRT1
43 pemphigus 30.4 JUP DSP DSG1
44 epidermolysis bullosa simplex 30.3 KRT5 KRT17 KRT16 KRT10 KRT1 DSP
45 pemphigus vulgaris, familial 30.3 JUP DSP DSG1
46 hair disease 30.3 LORICRIN DSP DSG1
47 oculodentodigital dysplasia 30.3 GJB3 GJB2 GJA1
48 epidermolysis bullosa 30.2 LORICRIN KRT5 KRT17 KRT16 KRT10 KRT1
49 porokeratosis 30.2 LORICRIN KRT16 KRT1 GJB2
50 diffuse palmoplantar keratoderma 30.2 KRT9 KRT5 KRT1 JUP DSP DSG1

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



Diseases related to Palmoplantar Keratosis
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Symptoms & Phenotypes for Palmoplantar Keratosis

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GenomeRNAi Phenotypes related to Palmoplantar Keratosis according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00240-S-1 9.4 GJA1 SASH1
2 Decreased viability GR00249-S 9.4 CTSC KRT10
3 Decreased viability GR00386-A-1 9.4 KRT10 KRT9 LORICRIN SERPINB7
4 Decreased viability GR00402-S-2 9.4 CTSC DSP GJB2 KRT16

MGI Mouse Phenotypes related to Palmoplantar Keratosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.77 CTSC DSG1 DSP GJA1 GJB2 GJB3
2 craniofacial MP:0005382 9.7 DSP GJA1 GJB2 JUP KRT16 KRT17
3 integument MP:0010771 9.4 CTSC DSG1 DSP GJA1 GJB2 GJB3
Sources

Drugs & Therapeutics for Palmoplantar Keratosis

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acitretin Approved 55079-83-9 6437841 5284513

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
2 Telangiectatic Palmoplantar Keratoderma in Systemic and Subacute Lupus Erythematosus : to a Form of Lichen Planus-like Lupus Erythematosus ? Active, not recruiting NCT04356014

Search NIH Clinical Center for Palmoplantar Keratosis

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Genetic Tests for Palmoplantar Keratosis

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Genetic tests related to Palmoplantar Keratosis:

# Genetic test Affiliating Genes
1 Palmoplantar Keratoderma 29
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Anatomical Context for Palmoplantar Keratosis

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MalaCards organs/tissues related to Palmoplantar Keratosis:

40
Skin, Tongue, Eye, Colon, Prostate, Neutrophil
Sources

Publications for Palmoplantar Keratosis

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Articles related to Palmoplantar Keratosis:

(show top 50) (show all 1219)
# Title Authors PMID Year
1
Dominant connexin26 mutants associated with human hearing loss have trans-dominant effects on connexin30. 54 61
20096356 2010
2
Connexin-26 mutations in deafness and skin disease. 54 61
19939300 2009
3
Expression of SLURP-1, an endogenous alpha7 nicotinic acetylcholine receptor allosteric ligand, in murine bronchial epithelial cells. 54 61
19396877 2009
4
Epidermolytic hyperkeratosis with palmoplantar keratoderma in a patient with KRT10 mutation. 61 54
19443303 2009
5
Novel mutations in DSG1 causing striate palmoplantar keratoderma. 54 61
19018793 2009
6
New evidence for the correlation of the p.G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratoderma. 54 61
18688874 2009
7
A de novo GJB2 (connexin 26) mutation, R75W, in a Chinese pedigree with hearing loss and palmoplantar keratoderma. 54 61
18924167 2009
8
Novel and recurrent mutations in the 1B domain of keratin 1 in palmoplantar keratoderma with tonotubules. 61 54
18795921 2009
9
Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair. 54 61
18957847 2009
10
A novel missense mutation in the second extracellular domain of GJB2, p.Ser183Phe, causes a syndrome of focal palmoplantar keratoderma with deafness. 61 54
18787097 2008
11
A novel c.545-546insG mutation in the loricrin gene correlates with a heterogeneous phenotype of loricrin keratoderma. 54 61
18844868 2008
12
A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness. 54 61
17993581 2008
13
Perturbed desmosomal cadherin expression in grainy head-like 1-null mice. 54 61
18288204 2008
14
Closing the gap on autosomal dominant connexin-26 and connexin-43 mutants linked to human disease. 61 54
18089569 2008
15
A novel GJB2 mutation p.Asn54His in a patient with palmoplantar keratoderma, sensorineural hearing loss and knuckle pads. 61 54
17255958 2007
16
Keratin 1 gene mutation detected in epidermal nevus with epidermolytic hyperkeratosis. 61 54
17255957 2007
17
Case report of a Spanish patient with arrhythmogenic right ventricular cardiomyopathy and palmoplantar keratoderma without plakoglobin and desmoplakin gene modifications. 54 61
17045679 2007
18
[Pathological features and gene mutation analysis in two pedigrees of diffuse palmoplantar keratoderma]. 54 61
17369150 2007
19
SLURP1 is a late marker of epidermal differentiation and is absent in Mal de Meleda. 54 61
17008884 2007
20
Arrhythmogenic right ventricular dysplasia, a cell adhesion cardiomyopathy: insights into disease pathogenesis from preliminary genotype--phenotype assessment. 54 61
16698823 2006
21
[Desmoglein, the target molecule in autoimmunity and infection]. 54 61
17075192 2006
22
Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakin. 54 61
16628197 2006
23
Arrhythmogenic right ventricular cardiomyopathy/dysplasia: is there a role for viruses? 61 54
16414451 2006
24
Further evidence of the clinical and genetic heterogeneity of recessive transgressive PPK in the Mediterranean region. 61 54
16865292 2006
25
Towards characterization of palmoplantar keratoderma caused by gain-of-function mutation in loricrin: analysis of a family and review of the literature. 61 54
16403113 2006
26
A novel mutation and large size polymorphism affecting the V2 domain of keratin 1 in an African-American family with severe, diffuse palmoplantar keratoderma of the ichthyosis hystrix Curth-Macklin type. 61 54
16417221 2006
27
Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa. 61 54
16175511 2005
28
The GJB2 mutation R75Q can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with deafness. 61 54
16059934 2005
29
Diffuse nonepidermolytic palmoplantar keratoderma caused by a recurrent nonsense mutation in DSG1. 61 54
15897387 2005
30
An atypical form of erythrokeratodermia variabilis maps to chromosome 7q22. 61 54
15668823 2005
31
A 2-bp deletion in the GJA1 gene is associated with oculo-dento-digital dysplasia with palmoplantar keratoderma. 61 54
15551259 2005
32
Atypical epidermolytic palmoplantar keratoderma presentation associated with a mutation in the keratin 1 gene. 61 54
15214894 2004
33
Genetic heterogeneity of KID syndrome: identification of a Cx30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichia. 61 54
15140211 2004
34
Striate palmoplantar keratoderma arising from desmoplakin and desmoglein 1 mutations is associated with contrasting perturbations of desmosomes and the keratin filament network. 54 61
15149499 2004
35
The role of cathepsin C in Papillon-Lefèvre syndrome, prepubertal periodontitis, and aggressive periodontitis. 54 61
14974080 2004
36
A recurrent mutation in the ARS (component B) gene encoding SLURP-1 in Turkish families with mal de Meleda: evidence of a founder effect. 61 54
12787122 2003
37
Novel mutations in the gene encoding secreted lymphocyte antigen-6/urokinase-type plasminogen activator receptor-related protein-1 (SLURP-1) and description of five ancestral haplotypes in patients with Mal de Meleda. 61 54
12603845 2003
38
Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy. 54 61
12373648 2002
39
Two cases of primarily palmoplantar keratoderma associated with novel mutations in keratin 1. 61 54
12406346 2002
40
New syndrome of hypotrichosis, striate palmoplantar keratoderma, acro-osteolysis and periodontitis not due to mutations in cathepsin C. 54 61
12207605 2002
41
Keratin 1 and keratin 10 mutations causing epidermolytic hyperkeratosis in Chinese patients. 61 54
12234709 2002
42
Epidermolytic palmoplantar keratoderma of Vörner: re-evaluation of Vörner's original family and identification of a novel keratin 9 mutation. 54 61
12192490 2002
43
Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. 61 54
11912510 2002
44
Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma. 61 54
11982762 2002
45
Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome. 61 54
11841538 2002
46
Genotype-phenotype assessment in autosomal recessive arrhythmogenic right ventricular cardiomyopathy (Naxos disease) caused by a deletion in plakoglobin. 54 61
11691526 2001
47
Phenotypic/genotypic correlations in patients with epidermolytic hyperkeratosis and the effects of retinoid therapy on keratin expression. 61 54
11558869 2001
48
Desmosomes: structure and function in normal and diseased epidermis. 61 54
11476106 2001
49
trans-dominant inhibition of connexin-43 by mutant connexin-26: implications for dominant connexin disorders affecting epidermal differentiation. 61 54
11493646 2001
50
Novel splice site mutation in keratin 1 underlies mild epidermolytic palmoplantar keratoderma in three kindreds. 54 61
11286630 2001
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Variations for Palmoplantar Keratosis

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ClinVar genetic disease variations for Palmoplantar Keratosis:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GJB2 NM_004004.6(GJB2):c.223C>T (p.Arg75Trp) SNV Pathogenic 17011 rs104894402 13:20763498-20763498 13:20189359-20189359
2 GJB2 NM_004004.6(GJB2):c.224G>A (p.Arg75Gln) SNV Pathogenic 17027 rs28931593 13:20763497-20763497 13:20189358-20189358
3 KRT9 NM_000226.4(KRT9):c.487C>T (p.Arg163Trp) SNV Likely pathogenic 2997 rs59616921 17:39727758-39727758 17:41571506-41571506
4 DSG1 NM_001942.4(DSG1):c.604G>T (p.Glu202Ter) SNV Likely pathogenic 373942 rs1057518788 18:28911750-28911750 18:31331787-31331787
5 DSG1 NM_001942.4(DSG1):c.1176T>G (p.Tyr392Ter) SNV Likely pathogenic 374188 rs761241711 18:28916487-28916487 18:31336524-31336524
6 AAGAB NM_024666.5(AAGAB):c.451+1G>T SNV Likely pathogenic 374029 rs1057518846 15:67528316-67528316 15:67235978-67235978
7 SASH1 NM_015278.5(SASH1):c.1849G>A (p.Glu617Lys) SNV Likely pathogenic 156162 rs587781245 6:148855021-148855021 6:148533885-148533885
8 WNT10A NM_025216.3(WNT10A):c.667C>T (p.Arg223Cys) SNV Uncertain significance 373902 rs149245953 2:219754996-219754996 2:218890274-218890274
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Expression for Palmoplantar Keratosis

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Search GEO for disease gene expression data for Palmoplantar Keratosis.
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Pathways for Palmoplantar Keratosis

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

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Developmental Biology 65
Show member pathways
 13.11 PKP2 LORICRIN KRT9 KRT5 KRT17 KRT16
2
Cytoskeletal Signaling 4
12.25 KRT5 KRT17 KRT10 JUP GJA1
3
Arrhythmogenic right ventricular cardiomyopathy 36 1
11.89 PKP2 JUP GJA1 DSP
4
Keratinization 65
Show member pathways
 11.82 PKP2 LORICRIN KRT9 KRT5 KRT17 KRT16
5
Adhesion 4
11.78 JUP GJA1 DSP
6
Gap junction trafficking 65
Show member pathways
 11.66 GJB3 GJB2 GJA1
7
Staphylococcus aureus infection 36
11.64 KRT9 KRT17 KRT16 KRT10 DSG1
8
Corticotropin-releasing hormone signaling pathway 1
11.62 KRT1 JUP GJA1
9
Cytoskeleton remodeling Neurofilaments 23
Show member pathways
 11.47 PKP2 KRT5 KRT17 KRT16 KRT1 DSP
10
Antiarrhythmic Pathway, Pharmacodynamics 60
11.36 JUP GJA1 DSP
11
Cell adhesion_Endothelial cell contacts by junctional mechanisms 23
11 JUP GJA1 DSP
12
Transport of connexins along the secretory pathway 65
Show member pathways
 10.41 GJB2 GJA1
Sources

GO Terms for Palmoplantar Keratosis

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.36 SERPINB7 SASH1 PKP2 LORICRIN KRT5 KRT17
2 cytosol GO:0005829 10.3 TAT LORICRIN KRT9 KRT5 KRT17 KRT16
3 extracellular exosome GO:0070062 10.13 SLURP1 KRT9 KRT5 KRT16 KRT10 KRT1
4 cell junction GO:0030054 10 PKP2 JUP GJB3 GJB2 GJA1 DSP
5 cell-cell junction GO:0005911 9.77 PKP2 JUP GJB3 DSP DSG1
6 lateral plasma membrane GO:0016328 9.67 JUP GJB2 DSG1
7 gap junction GO:0005921 9.61 GJB3 GJB2 GJA1
8 intermediate filament GO:0005882 9.61 PKP2 KRT9 KRT5 KRT17 KRT16 KRT10
9 connexin complex GO:0005922 9.58 GJB3 GJB2 GJA1
10 intercalated disc GO:0014704 9.56 PKP2 JUP GJA1 DSP
11 fascia adherens GO:0005916 9.5 JUP GJA1 DSP
12 desmosome GO:0030057 9.46 PKP2 JUP DSP DSG1
13 cornified envelope GO:0001533 9.17 PKP2 LORICRIN KRT10 KRT1 JUP DSP

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.97 KRT1 JUP DSP DSG1 CTSC
2 cell-cell adhesion GO:0098609 9.83 PKP2 JUP DSP DSG1
3 epidermis development GO:0008544 9.77 KRT9 KRT5 DSP
4 keratinocyte differentiation GO:0030216 9.71 LORICRIN KRT16 KRT10 DSP
5 cornification GO:0070268 9.7 PKP2 LORICRIN KRT9 KRT5 KRT17 KRT16
6 cell communication GO:0007154 9.67 GJB3 GJB2 GJA1
7 regulation of heart rate by cardiac conduction GO:0086091 9.63 PKP2 JUP DSP
8 skin development GO:0043588 9.62 KRT9 JUP GJB3 DSP
9 intermediate filament organization GO:0045109 9.61 KRT9 KRT17 DSP
10 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.58 PKP2 GJA1
11 protein heterotetramerization GO:0051290 9.58 KRT10 KRT1
12 gap junction assembly GO:0016264 9.56 GJB2 GJA1
13 cell communication by electrical coupling GO:0010644 9.55 GJB2 GJA1
14 desmosome organization GO:0002934 9.54 PKP2 DSP
15 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.54 PKP2 JUP DSP
16 epididymis development GO:1905867 9.51 GJB2 GJA1
17 desmosome assembly GO:0002159 9.48 PKP2 JUP
18 peptide cross-linking GO:0018149 9.46 LORICRIN KRT10 KRT1 DSP
19 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.43 PKP2 JUP DSP
20 keratinization GO:0031424 9.36 PKP2 LORICRIN KRT9 KRT5 KRT17 KRT16

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

# Name GO ID Score Top Affiliating Genes
1 structural constituent of cytoskeleton GO:0005200 9.55 LORICRIN KRT9 KRT5 KRT16 DSP
2 gap junction channel activity GO:0005243 9.5 GJB3 GJB2 GJA1
3 structural constituent of epidermis GO:0030280 9.43 LORICRIN KRT10 KRT1
4 alpha-catenin binding GO:0045294 9.4 PKP2 JUP
5 gap junction channel activity involved in cell communication by electrical coupling GO:1903763 9.37 GJB2 GJA1
6 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 9.13 PKP2 JUP DSP
7 structural molecule activity GO:0005198 9.1 KRT9 KRT17 KRT16 KRT10 JUP DSP
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Sources for Palmoplantar Keratosis

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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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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