MCID: HRD216
MIFTS: 28

Hereditary Palmoplantar Keratoderma

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Hereditary Palmoplantar Keratoderma

MalaCards integrated aliases for Hereditary Palmoplantar Keratoderma:

Name: Hereditary Palmoplantar Keratoderma 58 29 6
Hereditary Palmoplantar Hyperkeratosis 58
Hereditary Keratosis Palmoplantaris 58
Hereditary Ppk 58

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

ICD10 via Orphanet 33 Q82.8
UMLS via Orphanet 72 C0406757
Orphanet 58 ORPHA79357
SNOMED-CT via HPO 68 19988008 238879003 706885006

Summaries for Hereditary Palmoplantar Keratoderma

MalaCards based summary : Hereditary Palmoplantar Keratoderma, also known as hereditary palmoplantar hyperkeratosis, is related to palmoplantar keratosis and palmoplantar keratoderma, epidermolytic. An important gene associated with Hereditary Palmoplantar Keratoderma is DSG1 (Desmoglein 1), and among its related pathways/superpathways are Keratinization and Staphylococcus aureus infection. Affiliated tissues include skin and heart, and related phenotypes are palmoplantar keratoderma and amniotic constriction ring

Related Diseases for Hereditary Palmoplantar Keratoderma

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

(show all 44)
# Related Disease Score Top Affiliating Genes
1 palmoplantar keratosis 30.6 KRT9 DSG1
2 palmoplantar keratoderma, epidermolytic 30.1 KRT9 DSG1
3 keratosis 30.1 KRT9 DSG1
4 pachyonychia congenita 1 29.7 KRT9 DSG1
5 skin disease 29.3 KRT9 DSG1
6 keratoderma, palmoplantar, with deafness 11.7
7 palmoplantar keratoderma, norrbotten recessive type 11.7
8 palmoplantar keratoderma, punctate type ii 11.4
9 palmoplantar keratoderma, bothnian type 11.4
10 branchiootic syndrome 1 10.5
11 dermatophytosis 10.5
12 epidermolytic hyperkeratosis 10.4
13 mal de meleda 10.4
14 autosomal dominant epidermolytic ichthyosis 10.4
15 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
16 ichthyosis 10.3
17 striate palmoplantar keratoderma 10.2
18 distichiasis 10.1
19 ichthyosis vulgaris 10.1
20 varicose veins 10.1
21 deafness, neural, with atypical atopic dermatitis 10.1
22 deafness, autosomal dominant 3a 10.1
23 allergic rhinitis 10.1
24 asthma-related traits 4 10.1
25 nonsyndromic deafness 10.1
26 primary hypertrophic osteoarthropathy 10.1
27 olivopontocerebellar atrophy 10.1
28 dermatitis 10.1
29 epidermolysis bullosa 10.1
30 pustulosis of palm and sole 10.1
31 rhinitis 10.1
32 inherited metabolic disorder 10.1
33 psoriasis 10.1
34 periodontosis 10.1
35 nonsyndromic hearing loss and deafness, dfna3 10.1
36 congenital lymphedema 10.1
37 deafness, autosomal dominant nonsyndromic sensorineural 3 10.1
38 glioma 10.1
39 glial tumor 10.1
40 primary lymphedema 10.1
41 autosomal dominant non-syndromic sensorineural deafness type dfna 10.1
42 lymphedema 10.1
43 inherited epidermolysis bullosa 10.1
44 diffuse palmoplantar keratoderma 9.6 KRT9 DSG1

Graphical network of the top 20 diseases related to Hereditary Palmoplantar Keratoderma:



Diseases related to Hereditary Palmoplantar Keratoderma

Symptoms & Phenotypes for Hereditary Palmoplantar Keratoderma

Human phenotypes related to Hereditary Palmoplantar Keratoderma:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 palmoplantar keratoderma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000982
2 amniotic constriction ring 58 31 hallmark (90%) Very frequent (99-80%) HP:0009775

GenomeRNAi Phenotypes related to Hereditary Palmoplantar Keratoderma according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased replication of vaccinia virus (VACV) GR00362-A 8.62 DSG1 KRT9

Drugs & Therapeutics for Hereditary Palmoplantar Keratoderma

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Role of SLURP-1 in Melanoma and Melanoma Stem Cells Unknown status NCT01281722

Search NIH Clinical Center for Hereditary Palmoplantar Keratoderma

Genetic Tests for Hereditary Palmoplantar Keratoderma

Genetic tests related to Hereditary Palmoplantar Keratoderma:

# Genetic test Affiliating Genes
1 Hereditary Palmoplantar Keratoderma 29

Anatomical Context for Hereditary Palmoplantar Keratoderma

MalaCards organs/tissues related to Hereditary Palmoplantar Keratoderma:

40
Skin, Heart

Publications for Hereditary Palmoplantar Keratoderma

Articles related to Hereditary Palmoplantar Keratoderma:

(show top 50) (show all 73)
# Title Authors PMID Year
1
[Acral melanoma in a patient with hereditary keratoderma of the palms and soles (mal de Meleda): A chance association?] 61
31582262 2019
2
Punctate Palmoplantar Keratoderma: A Case Report of Type 1 (Buschke-Fischer-Brauer Disease). 61
31762743 2019
3
Hereditary Palmoplantar Keratoderma: A Practical Approach to the Diagnosis. 61
31334055 2019
4
Mal de Meleda: A great imitator. 61
31178100 2019
5
Pain mechanisms in hereditary palmoplantar keratodermas. 61
30883689 2019
6
Improvement of hereditary palmoplantar keratoderma with oral trametinib. 61
30548577 2019
7
Vohwinkel syndrome: ichthyosiform variant in a family. 61
30156625 2018
8
Case of punctate palmoplantar keratoderma type I treated with combination of low-dose oral acitretin and topical salicylic acid and steroid. 61
29500825 2018
9
Keratinization Disorders and Genetic Aspects in Palmar and Plantar Keratodermas. 61
27477171 2016
10
Hereditary palmoplantar keratoderma "clinical and genetic differential diagnosis". 61
26945534 2016
11
Palmoplantar keratoderma (PPK): acquired and genetic causes of a not so rare disease. 61
25176457 2014
12
[Palmoplantar dermatoses: when should genes be considered?]. 61
24898504 2014
13
[Hereditary palmoplantar keratoderma - a focus on clinical and molecular genetic aspects]. 61
25347558 2014
14
Mal de meleda - through history and today. 61
25102791 2014
15
Analysis of the KRT9 gene in a Mexican family with epidermolytic palmoplantar keratoderma. 61
23278372 2013
16
Comparative study of high-resolution multifrequency ultrasound of the plantar skin in patients with various types of hereditary palmoplantar keratoderma. 61
24030314 2013
17
Hereditary palmoplantar keratoderma and deafness resulting from genetic mutation of Connexin 26. 61
20890442 2010
18
Milestones in the history of Croatian dermatology and venereology: an outsider's insight. 61
21251437 2010
19
Hereditary palmoplantar keratoderma: A rare case report--pachyonychia congenita (PC). 61
20102020 2009
20
Hereditary palmoplantar keratodermas. 61
19341430 2009
21
Hereditary palmoplantar keratoderma type papulosa in Slovenia. 61
19784524 2009
22
Hereditary palmoplantar keratoderma associated with primary (congenital) lymphedema. 61
19725273 2009
23
A missense mutation in exon 1 of the keratin 9 gene in a Japanese patient with "Vörner type" hereditary palmoplantar keratoderma. 61
19258236 2009
24
Papillon-Lefèvre syndrome and malignant melanoma. A high incidence of melanoma development in Japanese palmoplantar keratoderma patients. 61
18401176 2008
25
Acquired palmoplantar keratoderma and immunobullous disease associated with antibodies to desmocollin 3. 61
17578440 2007
26
The GJB2 mutation R75Q can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with deafness. 61
16059934 2005
27
Hereditary palmoplantar (epidermolytic) keratoderma: illustration through a familial report. 61
15538081 2004
28
Malignant melanoma developing in an area of hereditary palmoplantar keratoderma (Mal de Meleda). 61
14756434 2003
29
Lipid composition of outer stratum corneum in hereditary palmoplantar keratodermas. 61
12592080 2003
30
The molecular basis of hereditary palmoplantar keratodermas. 61
12196741 2002
31
Hereditary palmoplantar keratoderma (four cases in three generations). 61
11328395 2001
32
Synkinetic blepharoclonus. 61
11130758 2000
33
R162W mutation of keratin 9 in a family with autosomal dominant palmoplantar keratoderma with unique histologic features. 61
10536990 1999
34
Hereditary palmoplantar keratoderma with nail changes and periodontosis in a father and son. 61
10071731 1999
35
A case of Unna-Thost disease accompanied by Epidermophyton floccosum infection. 61
10063215 1999
36
[Focal familial palmoplantar keratoderma with punctate hyperkeratosis of the palmar creases]. 61
9922864 1998
37
Dermacase. Hereditary palmoplantar keratoderma. 61
9241457 1997
38
A novel nonepidermolytic palmoplantar keratoderma: a clinical and histopathologic study of six cases. 61
9216520 1997
39
Primary digital clubbing associated with palmoplantar keratoderma. 61
9187857 1997
40
Bronchial asthma and allergic rhinitis in patients with hereditary palmoplantar keratoderma. 61
8891025 1996
41
Keratin 9 point mutation in the pedigree of epidermolytic hereditary palmoplantar keratoderma perturbs keratin intermediate filament network formation. 61
8647270 1996
42
Hereditary palmoplantar keratoderma with deafness. 61
8736341 1996
43
Efficacy, tolerability, and safety of calcipotriol ointment in disorders of keratinization. Results of a randomized, double-blind, vehicle-controlled, right/left comparative study. 61
7741542 1995
44
The gene for diffuse palmoplantar keratoderma of the type found in northern Sweden is localized to chromosome 12q11-q13. 61
7531539 1994
45
Hereditary palmoplantar keratoderma and dermatophytosis in the northernmost county of Sweden (Norrbotten). 61
9868488 1994
46
A comparative histopathological examination of biopsies from patients with either the dominant or the Gamborg Nielsen type of hereditary palmoplantar keratoderma. 61
8193413 1994
47
Adoption of a demographic database for family studies of hereditary palmoplantar keratoderma type Gamborg Nielsen. 61
8186507 1994
48
The dominant form of hereditary palmoplantar keratoderma in the northernmost county of Sweden (Norrbotten). 61
7514461 1994
49
Dermatophytes and keratin in patients with hereditary palmoplantar keratoderma. A mycological study. 61
7509099 1993
50
Hereditary palmoplantar keratoderma, type papulosa, in Croatia. 61
8349860 1993

Variations for Hereditary Palmoplantar Keratoderma

ClinVar genetic disease variations for Hereditary Palmoplantar Keratoderma:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DSG1 NM_001942.4(DSG1):c.604G>T (p.Glu202Ter)SNV Likely pathogenic 373942 rs1057518788 18:28911750-28911750 18:31331787-31331787
2 DSG1 NM_001942.4(DSG1):c.1176T>G (p.Tyr392Ter)SNV Likely pathogenic 374188 rs761241711 18:28916487-28916487 18:31336524-31336524

Expression for Hereditary Palmoplantar Keratoderma

Search GEO for disease gene expression data for Hereditary Palmoplantar Keratoderma.

Pathways for Hereditary Palmoplantar Keratoderma

Pathways related to Hereditary Palmoplantar Keratoderma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.41 KRT9 DSG1
2 10.61 KRT9 DSG1

GO Terms for Hereditary Palmoplantar Keratoderma

Biological processes related to Hereditary Palmoplantar Keratoderma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 8.96 KRT9 DSG1
2 cornification GO:0070268 8.62 KRT9 DSG1

Sources for Hereditary Palmoplantar Keratoderma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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