MCID: PLM029
MIFTS: 41

Palmoplantar Keratosis malady

Categories: Rare diseases, Skin diseases

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
ICD1027 L85.2
MeSH36 D007645
NCIt42 C34748
UMLS65 C0022596

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 haim-munk syndrome and palmoplantar keratoderma, nonepidermolytic. An important gene associated with Palmoplantar Keratosis is CTSC (Cathepsin C), and among its related pathways are Antiarrhythmic Pathway, Pharmacodynamics and Cell adhesion_Endothelial cell contacts by junctional mechanisms. Affiliated tissues include skin, breast and small intestine, and related mouse phenotypes are integument and growth/size/body region.

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 57)
idRelated DiseaseScoreTop Affiliating Genes
1haim-munk syndrome30.8CTSC, SLURP1
2palmoplantar keratoderma, nonepidermolytic30.8KRT1, KRT9
3palmoplantar keratoderma, epidermolytic28.8CTSC, DSG1, GJB2, KRT1, KRT16, KRT9
4keratosis palmaris et plantaris-clinodactyly syndrome12.4
5palmoplantar keratoderma and woolly hair12.4
6keratoderma, palmoplantar, with deafness12.3
7keratoderma, palmoplantar, punctate type ia12.2
8keratoderma palmoplantar spastic paralysis12.1
9keratosis10.6
10white sponge nevus 110.5KRT1, KRT9
11acantholytic acanthoma10.5KRT1, KRT9
12ichthyosis histrix, curth-macklin type10.5KRT1, KRT9
13drug psychosis10.4KRT1, KRT9
14pancreatic intraductal papillary-mucinous adenoma10.3DSG1, DSP
15pervasive developmental disorder10.2DSG1, DSP
16impetigo herpetiformis10.2DSG1, DSP
17palmoplantar keratoderma, nagashima type10.2
18bart-pumphrey syndrome10.2GJB2, LOR
19ichthyosis-hypotrichosis-sclerosing cholangitis syndrome10.2DSG1, DSP
20syndactyly, type iii10.1GJB2, LOR
21troyer syndrome10.1GJB2, SLURP1
22dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis10.0DSP, JUP
23papillon-lefevre syndrome10.0
24tyrosinemia, type ii10.0
25punctate palmoplantar keratoderma10.0
26arrhythmogenic right ventricular dysplasia 810.0DSP, JUP
27familial isolated arrhythmogenic ventricular dysplasia, left dominant form10.0DSP, JUP
28contact dermatitis10.0KRT16, LOR
29frontotemporal dementia, right temporal atrophy variant10.0DSP, JUP
30mitf-related melanoma and renal cell carcinoma predisposition syndrome10.0DSP, JUP
31hypercholesterolemia, familial10.0DSP, JUP
32arrhythmogenic right ventricular dysplasia 1210.0DSP, JUP
33braddock syndrome10.0DSG1, DSP, KRT1
34brugada syndrome10.0KRT16, KRT9, SLURP1
35erythrokeratodermia variabilis et progressiva10.0GJB2, LOR
36oculodentodigital dysplasia9.9
37melanoma9.9
38dermatitis9.9
39periodontal disease9.9
40periodontitis9.9
41dermatitis herpetiformis9.9
42keratosis palmoplantaris striata iii9.9KRT1, KRT16, KRT9
43ectodermal dysplasia 4, hair/nail type9.9KRT16, KRT9
44hay-wells syndrome9.9DSP, JUP
45epidermolysis bullosa simplex, dowling-meara type9.9KRT1, KRT16, KRT9
46skin squamous cell carcinoma9.9DSG1, KRT16
47neuropathy, distal hereditary motor, type iia9.8DSP, JUP
48endometrial disease9.7DSG1, JUP
49benign eccrine breast spiradenoma9.6CTSC, KRT1, KRT9, SERPINB7, SLURP1
50specific developmental disorder9.6DSP, JUP

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):

(show all 17)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Etanerceptapproved, investigationalPhase 3383185243-69-0
Synonyms:
185243-69-0
CD120b
D00742
Enbrel
Enbrel (TN)
Enbrel Sureclick
Etanercept
Etanercept (USAN/INN)
 
Etanercept (genetical recombination)
Etanercept (genetical recombination) (JAN)
TNF-R2
Tumor necrosis factor receptor 2
Tumor necrosis factor receptor superfamily member 1B precursor
Tumor necrosis factor receptor type II
etanercept
p75
p80 TNF-alpha receptor
2Gastrointestinal AgentsPhase 36401
3Immunologic FactorsPhase 318483
4AnalgesicsPhase 39358
5Peripheral Nervous System AgentsPhase 318510
6Immunosuppressive AgentsPhase 310422
7Analgesics, Non-NarcoticPhase 35184
8Anti-Inflammatory AgentsPhase 38478
9Anti-Inflammatory Agents, Non-SteroidalPhase 33549
10Antirheumatic AgentsPhase 38496
11EmollientsPhase 3121
12Dermatologic AgentsPhase 34555
13
Acitretinapproved3055079-83-96437841, 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
14interferons1930
15Interferon-gamma137
16Contraceptive Agents1706
17Contraceptives, Oral3734

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, Breast, Small intestine, Brain, Prostate, Endothelial, T cells

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:00107717.3CTSC, DSP, GJB2, JUP, KRT1, KRT16
2MP:00053786.7CTSC, DSG1, DSP, GJB2, JUP, KRT1

Publications for Palmoplantar Keratosis

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Articles related to Palmoplantar Keratosis:

(show all 24)
idTitleAuthorsYear
1
Identification and Characterization of a Recessive Missense Mutation p.P277L in SERPINB7 in Nagashima-Type Palmoplantar Keratosis. (26763456)
2016
2
Extensive Erythema and Hyperkeratosis on the Extremities and Lumbar Area as an Unusual Mani-festation of Nagashima-type Palmoplantar Keratosis. (26926003)
2016
3
Identification and Characterization of a Recessive Missense Mutation p.P277L in SERPINB7 in Nagashima-Type Palmoplantar Keratosis. (26334323)
2015
4
Possible cases of Nagashima-type palmoplantar keratosis? Comment on the article by Guo et al. (26453541)
2015
5
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
6
Nagashima-type palmoplantar keratosis caused by compound heterozygous mutations in SERPINB7. (25788444)
2015
7
Highly prevalent SERPINB7 founder mutation causes pseudodominant inheritance pattern in Nagashima-type palmoplantar keratosis. (24773080)
2014
8
Palmoplantar keratosis in oculodentodigital dysplasia with a GJA1 point mutation out of the C-terminal region of connexin 43. (25388818)
2014
9
Malignant melanoma arising in the skin lesions of Nagashima-type palmoplantar keratosis. (24721785)
2014
10
Nagashima-type palmoplantar keratosis: a common Asian type caused by SERPINB7 protease inhibitor deficiency. (25029323)
2014
11
New and recurrent SERPINB7 mutations in seven Chinese patients with Nagashima-type palmoplantar keratosis. (24514002)
2014
12
Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause Nagashima-type palmoplantar keratosis. (24207119)
2013
13
Possible nagashima-type palmoplantar keratosis in two siblings. (23626539)
2013
14
Atypical nail dystrophy in a possible case of Nagashima-type palmoplantar keratosis. (21950725)
2012
15
Suspected Nagashima-type palmoplantar keratosis with atypical hyperkeratotic lesions on the ears. (22640937)
2012
16
A familial case of Nagashima-type palmoplantar keratosis. (20542838)
2010
17
Dermatitis herpetiformis Duhring with palmoplantar keratosis. (14674919)
2003
18
Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis. (10581027)
1999
19
Hereditary palmoplantar keratosis of the Gamborg Nielsen type. Clinical and ultrastructural characteristics of a new type of autosomal recessive palmoplantar keratosis. (2260881)
1990
20
Cardiac abnormalities in familial palmoplantar keratosis. (2945574)
1986
21
Punctate palmoplantar keratosis acuminata. An unusual form of tuberculid. (7174181)
1982
22
Palmoplantar keratosis acuminata with facial sebaceous hyperplasia. (4809220)
1974
23
Palmoplantar keratosis of Darier's disease and multiple abnormalities. Ultrastructural study]. (5562223)
1971
24
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 pathwaysScoreTop Affiliating Genes
19.3DSP, JUP
29.3DSP, JUP
3
Show member pathways
9.1DSP, 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:

idNameGO IDScoreTop Affiliating Genes
1cell-cell junctionGO:00059119.1DSG1, JUP

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

idNameGO IDScoreTop Affiliating Genes
1intermediate filament cytoskeleton organizationGO:00451049.7DSP, KRT16
2regulation of ventricular cardiac muscle cell action potentialGO:00989119.6DSP, JUP
3adherens junction organizationGO:00343329.2DSP, JUP
4epidermis developmentGO:00085449.1DSP, KRT16, KRT9
5single organismal cell-cell adhesionGO:00163378.5DSG1, DSP, JUP

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