MCID: PLM029
MIFTS: 36

Palmoplantar Keratosis malady

Rare diseases, Skin diseases categories

Aliases & Classifications for Palmoplantar Keratosis

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Aliases & Descriptions for Palmoplantar Keratosis:

Name: Palmoplantar Keratosis 10 12 65
Keratoderma, Palmoplantar 45 36
Palmoplantar Keratoderma 10 45
 
Keratoderma, Palmoplantar, Diffuse 65
Keratosis Palmaris Et Plantaris 10
Keratoderma Palmoplantar 47


Classifications:



External Ids:

Disease Ontology10 DOID:3390
MeSH36 D007645
SNOMED-CT59 205584004, 28596004
NCIt42 C34748

Summaries for Palmoplantar Keratosis

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NIH Rare Diseases:45 Palmoplantar keratoderma (ppk) is a group of conditions characterized by thickening of the palms and soles of the feet. ppk can also be an associated feature of different syndromes. in rare forms of palmoplantar keratoderma, other organs in the body may be affected in addition to the skin. ppk can either be inherited or acquired. acquired palmoplantar keratodermas may arise as a result of infections, internal disease or cancer, inflammatory skin conditions, or medications. the hereditary palmoplantar keratodermas are caused by a gene abnormality that results in abnormal skin protein (keratin). they can be inherited in an autosomal dominant or autosomal recessive patterns. last updated: 4/29/2011

MalaCards based summary: Palmoplantar Keratosis, also known as keratoderma, palmoplantar, is related to cardiomyopathy, dilated, with woolly hair and keratoderma and keratosis palmoplantaris striata iii. An important gene associated with Palmoplantar Keratosis is CTSC (Cathepsin C), and among its related pathways are Cell adhesion_Endothelial cell contacts by junctional mechanisms and Cytoskeleton remodeling Neurofilaments. Affiliated tissues include skin, and related mouse phenotypes are growth/size/body and integument.

Disease Ontology:10 A keratosis characterized by abnormal thickening of the palms and the soles.

Wikipedia:68 Meleda disease (MDM) or \"mal de Meleda\", also called Mljet disease, keratosis palmoplantaris and... more...

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 245)
idRelated DiseaseScoreTop Affiliating Genes
1cardiomyopathy, dilated, with woolly hair and keratoderma30.9DSP, JUP
2keratosis palmoplantaris striata iii30.7KRT1, KRT16, KRT9
3erythrokeratodermia variabilis et progressiva30.6GJB2, GJB3, LOR
4papillon-lefevre syndrome30.5CTSC, SLURP1
5bart-pumphrey syndrome30.4GJB2, LOR
6ectodermal dysplasia/skin fragility syndrome30.4DSP, JUP
7hay-wells syndrome30.4DSG1, DSP, JUP
8ichthyosis histrix, curth-macklin type30.3KRT1, KRT16, KRT9
9palmoplantar keratoderma, epidermolytic30.3KRT1, KRT16, KRT9
10epidermolytic hyperkeratosis30.3KRT1, KRT16, KRT9, LOR
11oculodentodigital dysplasia30.0GJB2, GJB3, LOR
12palmoplantar keratoderma, nonepidermolytic28.8CTSC, DSG1, GJB2, GJB3, KRT1, KRT16
13keratosis10.8
14focal palmoplantar keratoderma10.8
15keratoderma, palmoplantar, with deafness10.8
16cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome10.8
17unna-thost palmoplantar keratoderma10.7
18naxos disease10.7
19olmsted syndrome10.7
20cardiomyopathy10.7
21palmoplantar keratoderma and woolly hair10.7
22keratosis palmaris et plantaris - clinodactyly10.7
23keratoderma, palmoplantar, punctate type ia10.6
24keratosis palmoplantaris striata i, ad10.6
25tylosis with esophageal cancer10.6
26palmoplantar keratoderma, nonepidermolytic, focal or diffuse10.6
27diffuse palmoplantar keratoderma, bothnian type10.6
28palmoplantar keratoderma with congenital alopecia10.6
29palmoplantar keratoderma, bothnian type10.6
30palmoplantar keratoderma, nonepidermolytic, focal 210.6
31palmoplantar keratoderma, nonepidermolytic, focal10.6
32pityriasis rubra pilaris10.6
33pachyonychia congenita10.6
34erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper ige10.5
35leukoencephalopathy palmoplantar keratoderma10.5
36transgrediens et progrediens palmoplantar keratoderma10.5
37cole disease10.5
38arrhythmogenic right ventricular cardiomyopathy10.5
39hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome10.5
40woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome10.5
41epidermodysplasia verruciformis10.5
42schopf-schulz-passarge syndrome10.5
43arrhythmogenic right ventricular dysplasia 1110.5
44vohwinkel syndrome10.5
45naegeli-franceschetti-jadassohn syndrome10.5
46alopecia10.5
47ichthyosis10.5
48palmoplantar keratoderma of sybert10.5
49autosomal dominant palmoplantar keratoderma and congenital alopecia10.5
50autosomal recessive palmoplantar keratoderma and congenital alopecia10.5

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



Diseases related to palmoplantar keratosis

Symptoms for Palmoplantar Keratosis

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Drugs & Therapeutics for Palmoplantar Keratosis

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1TNFR-Fc fusion proteinPhase 3367
2Immunoglobulin GPhase 3167
3EmollientsPhase 3113
4
Acitretinapproved2955079-83-96437841, 5284513
Synonyms:
(2E,4E,6E,8E)-3,7-dimethyl-9-[2,3,6-trimethyl-4-(methyloxy)phenyl]nona-2,4,6,8-tetraenoic acid
(2E,4E,6E,8E)-9-(4-methoxy-2,3,6-trimethylphenyl)-3,7-dimethylnona-2,4,6,8-tetraenoic acid
(all-E)-9-(4-Methoxy-2,3,6-trimethylphenyl)-3,7-dimethyl-2,4,6,8-nonatetraenoic acid
(all-e)-9-(4-Methoxy-2,3,6-trimethylphenyl)-3,7-dimethyl-2,4,6,8-nonatetraenoic acid
13-cis-Acitretin
44707_FLUKA
44707_SIGMA
54757-46-9
55079-83-9
9-(4-Methoxy-2,3,6-trimethylphenyl)-3,7-dimethyl-2,4,6,8-nonatetraenoic acid
9-(4-Methoxy-2,3,6-trimethylphenyl)-3,7-dimethylnona-2,4,6,8-tetraenoic acid
AC-4702
AC1NR4LJ
AC1Q5T6I
Acetretin
Acitretin
Acitretin (USAN/INN)
Acitretin [USAN:INN:BAN]
Acitretina
Acitretina [Spanish]
Acitretine
Acitretine [French]
Acitretinum
Acitretinum [Latin]
BIDD:GT0617
Bio-0002
CCRIS 5534
CHEBI:50173
CHEMBL1131
CID5284513
CPD000499573
 
D02754
EINECS 259-474-4
Etretin
FT-0082892
HSDB 7187
Isoacitretin
Isoetretin
LS-96920
MLS001076667
MolPort-003-925-892
NCGC00163127-01
NCGC00163127-02
Neotigason
Retinoid etretin
Ro 10-1670
Ro 10-1670/000
Ro 13-7652
Ro-10-1670
Ro-10-1670/000
Ro-13-7652
S1368_Selleck
SAM002589973
SBB064171
SMR000499573
Soriatane
Soriatane (TN)
Soriatane, Acitretin
Spectrum5_002065
TMMP
U0279
UNII-LCH760E9T7
all-trans-3,7-Dimethyl-9-(4-methoxy-2,3,6-trimethylphenyl)-2,4,6,8-nonatetraenoic acid
all-trans-Acitretin
5Interferon-gamma135

Interventional clinical trials:

idNameStatusNCT IDPhase
1A Placebo-Controlled Double-Blind Study on the Safety and Efficacy of Etanercept in Palmoplantar PustulosisCompletedNCT00353119Phase 3
2Treatment of the Recessive Nonbullous Congenital Ichthyosis by the Epigallocatechine CutaneousNot yet recruitingNCT01222000Phase 3
3The Evaluation of Oral Acitretin in the Treatment of Psoriasis, Cutaneous Disorders of Keratinization, Multiple Basal Cell Carcinomas and Other Retinoid Responsive DiseasesCompletedNCT00005660
4Cytokines in Papillon-Lefèvre SyndromeCompletedNCT01116934

Search NIH Clinical Center for Palmoplantar Keratosis


Cochrane evidence based reviews: Keratoderma, Palmoplantar

Genetic Tests for Palmoplantar Keratosis

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Anatomical Context for Palmoplantar Keratosis

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MalaCards organs/tissues related to Palmoplantar Keratosis:

33
Skin

Animal Models for Palmoplantar Keratosis or affiliated genes

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MGI Mouse Phenotypes related to Palmoplantar Keratosis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053786.5CTSC, DSP, GJB2, JUP, KRT1, KRT16
2MP:00107716.3CTSC, DSP, GJB2, GJB3, JUP, KRT1

Publications for Palmoplantar Keratosis

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Articles related to Palmoplantar Keratosis:

(show all 22)
idTitleAuthorsYear
1
Identification and Characterization of a Recessive Missense Mutation p.P277L in SERPINB7 in Nagashima-Type Palmoplantar Keratosis. (26334323)
2015
2
Possible cases of Nagashima-type palmoplantar keratosis? Comment on the article by Guo et al. (26453541)
2015
3
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
4
Nagashima-type palmoplantar keratosis caused by compound heterozygous mutations in SERPINB7. (25788444)
2015
5
Highly prevalent SERPINB7 founder mutation causes pseudodominant inheritance pattern in Nagashima-type palmoplantar keratosis. (24773080)
2014
6
Palmoplantar keratosis in oculodentodigital dysplasia with a GJA1 point mutation out of the C-terminal region of connexin 43. (25388818)
2014
7
Malignant melanoma arising in the skin lesions of Nagashima-type palmoplantar keratosis. (24721785)
2014
8
Nagashima-type palmoplantar keratosis: a common Asian type caused by SERPINB7 protease inhibitor deficiency. (25029323)
2014
9
New and recurrent SERPINB7 mutations in seven Chinese patients with Nagashima-type palmoplantar keratosis. (24514002)
2014
10
Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause Nagashima-type palmoplantar keratosis. (24207119)
2013
11
Possible nagashima-type palmoplantar keratosis in two siblings. (23626539)
2013
12
Atypical nail dystrophy in a possible case of Nagashima-type palmoplantar keratosis. (21950725)
2012
13
Suspected Nagashima-type palmoplantar keratosis with atypical hyperkeratotic lesions on the ears. (22640937)
2012
14
A familial case of Nagashima-type palmoplantar keratosis. (20542838)
2010
15
Dermatitis herpetiformis Duhring with palmoplantar keratosis. (14674919)
2003
16
Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis. (10581027)
1999
17
Hereditary palmoplantar keratosis of the Gamborg Nielsen type. Clinical and ultrastructural characteristics of a new type of autosomal recessive palmoplantar keratosis. (2260881)
1990
18
Cardiac abnormalities in familial palmoplantar keratosis. (2945574)
1986
19
Punctate palmoplantar keratosis acuminata. An unusual form of tuberculid. (7174181)
1982
20
Palmoplantar keratosis acuminata with facial sebaceous hyperplasia. (4809220)
1974
21
Palmoplantar keratosis of Darier's disease and multiple abnormalities. Ultrastructural study]. (5562223)
1971
22
Myasthenia with systemic lupus and palmoplantar keratosis. (5124413)
1971

Variations for Palmoplantar Keratosis

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Expression for genes affiliated with Palmoplantar Keratosis

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Search GEO for disease gene expression data for Palmoplantar Keratosis.

Pathways for genes affiliated with Palmoplantar Keratosis

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5DSP, JUP
2
Show member pathways
9.2DSP, KRT1, KRT16

GO Terms for genes affiliated with Palmoplantar Keratosis

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1connexon complexGO:000592210.2GJB2, GJB3
2intercalated discGO:001470410.0DSP, JUP
3cytoplasmic side of plasma membraneGO:00098989.9DSG1, JUP
4gap junctionGO:00059219.8GJB2, GJB3
5cornified envelopeGO:00015339.8DSP, LOR
6lateral plasma membraneGO:00163289.3DSG1, GJB2
7desmosomeGO:00300579.3DSG1, DSP, JUP
8cell-cell junctionGO:00059118.9DSG1, DSP, GJB3, JUP
9intermediate filamentGO:00058828.9DSP, JUP, KRT1, KRT16, KRT9
10cytoskeletonGO:00058568.5DSP, JUP, KRT1, KRT16
11extracellular exosomeGO:00700627.3CTSC, DSG1, DSP, JUP, KRT1, KRT16

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1intermediate filament organizationGO:004510910.3DSP, KRT9
2establishment of skin barrierGO:006143610.1KRT1, KRT16
3bundle of His cell-Purkinje myocyte adhesion involved in cell communicationGO:008607310.1DSP, JUP
4regulation of ventricular cardiac muscle cell action potentialGO:009891110.1DSP, JUP
5intermediate filament cytoskeleton organizationGO:004510410.1DSP, KRT16
6response to progesteroneGO:003257010.0DSG1, GJB2
7cell communicationGO:000715410.0GJB2, GJB3
8regulation of heart rate by cardiac conductionGO:008609110.0DSP, JUP
9adherens junction organizationGO:00343329.8DSP, JUP
10cellular component disassembly involved in execution phase of apoptosisGO:00069219.7DSG1, DSP
11epidermis developmentGO:00085449.6DSP, KRT16, KRT9
12keratinizationGO:00314249.5KRT16, LOR
13single organismal cell-cell adhesionGO:00163379.1DSG1, DSP, JUP
14peptide cross-linkingGO:00181499.0DSP, LOR
15keratinocyte differentiationGO:00302168.7DSP, KRT16, LOR
16skin developmentGO:00435888.7DSP, GJB3, JUP, KRT9

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

idNameGO IDScoreTop Affiliating Genes
1cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communicationGO:008608310.0DSP, JUP
2gap junction channel activityGO:000524310.0GJB2, GJB3
3structural constituent of cytoskeletonGO:00052008.5DSP, KRT16, KRT9, LOR
4structural molecule activityGO:00051987.2DSP, JUP, KRT1, KRT16, KRT9, LOR

Sources for Palmoplantar Keratosis

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet