MCID: PLM029
MIFTS: 43

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 11 13 68
Keratoderma, Palmoplantar 48 27 39
Palmoplantar Keratoderma 11 48
 
Keratoderma, Palmoplantar, Diffuse 68
Keratosis Palmaris Et Plantaris 11
Keratoderma Palmoplantar 50

Classifications:



External Ids:

Disease Ontology11 DOID:3390
ICD1030 L85.2
MeSH39 D007645
NCIt45 C34748

Summaries for Palmoplantar Keratosis

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NIH Rare Diseases:48 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 are Cell adhesion_Endothelial cell contacts by junctional mechanisms and Cytoskeleton remodeling Neurofilaments. Affiliated tissues include skin, and related mouse phenotype integument.

Disease Ontology:11 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

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

(show top 50)    (show all 84)
idRelated DiseaseScoreTop Affiliating Genes
1keratoderma, palmoplantar, with deafness33.4GJB2, GJB3
2palmoplantar keratoderma, nonepidermolytic31.7KRT1, KRT10
3palmoplantar keratoderma and woolly hair12.4
4keratosis palmaris et plantaris with clinodactyly12.4
5keratoderma, palmoplantar, punctate type ia12.2
6keratoderma palmoplantar spastic paralysis12.0
7keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy11.9
8palmoplantar keratoderma, nagashima type11.1
9papillon-lefevre syndrome10.9
10haim-munk syndrome10.9
11tyrosinemia, type ii10.9
12meleda disease10.9
13punctate palmoplantar keratoderma10.9
14palmoplantar keratoderma, epidermolytic10.9
15keratosis10.5
16periodontitis 1, juvenile10.2CTSC, SLURP1
17cardiomyopathy, dilated, 1bb10.2DSG1, DSP
18branchiooculofacial syndrome10.2DSP, JUP
19skin fragility-woolly hair syndrome10.2DSP, JUP
20gupta patton syndrome10.2DSP, JUP
21pallister-killian syndrome10.2DSP, JUP
22codas syndrome10.2DSP, JUP
23epidermolysis bullosa, lethal acantholytic10.2DSP, JUP
24bradyopsia10.2KRT1, KRT10
25choanal atresia and lymphedema10.2DSP, JUP
26klippel-feil syndrome 210.2DSP, JUP
27episodic angioedema with eosinophilia10.2KRT1, KRT10
28peripheral t-cell lymphoma10.2DSG1, DSP
29subglottis verrucous carcinoma10.2KRT1, KRT10
30chromosome 15q11-q13 duplication syndrome10.2DSP, JUP
31mixed cell adenoma10.2KRT1, KRT10
32ventricular tachycardia, catecholaminergic polymorphic, 410.1DSP, JUP
33pneumonia caused by pseudomonas aeruginosa infection10.1DSG1, DSP, KRT1
34fibular hemimelia, bilateral10.1DSP, JUP
35ectodermal dysplasia 2, clouston type10.1GJB2, LOR
36thymus mucoepidermoid carcinoma10.1KRT1, KRT10
37fibular hemimelia, unilateral10.1DSP, JUP
38craniodiaphyseal dysplasia, autosomal dominant10.1KRT10, KRT16
39erdheim-chester disease10.1KRT1, KRT10, KRT9
40chronic mountain sickness10.1KRT1, KRT16, KRT9
41congenital absence of upper arm and forearm with hand present, bilateral10.1DSP, JUP
42white sponge nevus 110.1KRT1, KRT16, KRT9
43squamous cell carcinoma10.1KRT1, KRT10, KRT9
44brachydactyly small stature face anomalies10.1KRT10, KRT16
45bronchiolitis obliterans with obstructive pulmonary disease10.1KRT10, KRT16
46hypoplastic left heart syndrome 110.1GJB2, LOR
47lipoma10.1DSG1, DSP, JUP
48hereditary thrombocytosis with transverse limb defect10.1GJB2, GJB3
49pol iii-related leukodystrophies10.1DSG1, DSP, JUP
50pompholyx10.1DSG1, DSP, JUP

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



Diseases related to palmoplantar keratosis

Symptoms & Phenotypes for Palmoplantar Keratosis

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MGI Mouse Phenotypes related to Palmoplantar Keratosis according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107717.2CTSC, DSP, GJB2, GJB3, JUP, KRT1

Drugs & Therapeutics for Palmoplantar Keratosis

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

(show all 16)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Etanerceptapproved, investigationalPhase 3403185243-69-0
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 38402
3Peripheral Nervous System AgentsPhase 323689
4AnalgesicsPhase 311733
5Immunosuppressive AgentsPhase 313086
6Antirheumatic AgentsPhase 310956
7Anti-Inflammatory AgentsPhase 310729
8Analgesics, Non-NarcoticPhase 36501
9Anti-Inflammatory Agents, Non-SteroidalPhase 34443
10
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
11Interferon-gamma152
12Contraceptives, Oral1327
13interferons2175
14Dermatologic Agents5806
15Keratolytic Agents444
16Contraceptive Agents1967

Interventional clinical trials:

idNameStatusNCT IDPhase
1Treatment of the Recessive Nonbullous Congenital Ichthyosis by the Epigallocatechine CutaneousUnknown statusNCT01222000Phase 3
2A Placebo-Controlled Double-Blind Study on the Safety and Efficacy of Etanercept in Palmoplantar PustulosisCompletedNCT00353119Phase 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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Genetic tests related to Palmoplantar Keratosis:

id Genetic test Affiliating Genes
1 Palmoplantar Keratoderma27

Anatomical Context for Palmoplantar Keratosis

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MalaCards organs/tissues related to Palmoplantar Keratosis:

36
Skin

Publications for Palmoplantar Keratosis

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Articles related to Palmoplantar Keratosis:

(show all 29)
idTitleAuthorsYear
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

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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
19.7DSP, JUP
2
Show member pathways
9.3DSP, KRT1, KRT16
3
Show member pathways
7.0DSG1, DSP, JUP, KRT1, KRT10, KRT16
4
Show member pathways
7.0DSG1, DSP, JUP, KRT1, KRT10, 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 12)
idNameGO IDScoreTop Affiliating Genes
1fascia adherensGO:000591610.3DSP, JUP
2desmosomeGO:003005710.1DSG1, DSP, JUP
3connexin complexGO:000592210.1GJB2, GJB3
4gap junctionGO:00059219.9GJB2, GJB3
5extracellular matrixGO:00310129.7DSG1, DSP, JUP, KRT1
6cell-cell junctionGO:00059119.3DSG1, DSP, GJB3, JUP
7lateral plasma membraneGO:00163289.2DSG1, GJB2, JUP
8extracellular spaceGO:00056159.1CTSC, KRT1, KRT10, KRT9, SERPINB7, SLURP1
9cell junctionGO:00300548.9DSG1, DSP, GJB2, GJB3, JUP
10cornified envelopeGO:00015338.6DSG1, DSP, JUP, KRT1, KRT10, LOR
11intermediate filamentGO:00058828.5DSP, JUP, KRT1, KRT10, KRT16, KRT9
12extracellular exosomeGO:00700627.9CTSC, DSG1, DSP, JUP, KRT1, KRT10

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

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1intermediate filament organizationGO:004510910.6DSP, KRT9
2adherens junction organizationGO:003433210.4DSP, JUP
3bundle of His cell-Purkinje myocyte adhesion involved in cell communicationGO:008607310.4DSP, JUP
4establishment of skin barrierGO:006143610.4KRT1, KRT16
5intermediate filament cytoskeleton organizationGO:004510410.3DSP, KRT16
6regulation of heart rate by cardiac conductionGO:008609110.3DSP, JUP
7regulation of ventricular cardiac muscle cell action potentialGO:009891110.3DSP, JUP
8epidermis developmentGO:000854410.1DSP, KRT16, KRT9
9agingGO:000756810.0CTSC, GJB2, KRT16
10single organismal cell-cell adhesionGO:00163379.8DSG1, DSP, JUP
11neutrophil degranulationGO:00433129.3CTSC, DSG1, DSP, JUP, KRT1
12peptide cross-linkingGO:00181499.3DSP, KRT1, KRT10, LOR
13keratinocyte differentiationGO:00302169.2DSP, KRT10, KRT16, LOR
14skin epidermis developmentGO:00987739.0KRT1, KRT10, LOR
15skin developmentGO:00435888.8DSP, GJB3, JUP, KRT9
16cornificationGO:00702687.7DSG1, DSP, JUP, KRT1, KRT10, KRT16
17keratinizationGO:00314247.7DSG1, DSP, JUP, KRT1, KRT10, KRT16

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:008608310.3DSP, JUP
2gap junction channel activityGO:00052439.9GJB2, GJB3
3structural constituent of epidermisGO:00302809.6KRT1, KRT10, LOR
4structural constituent of cytoskeletonGO:00052009.3DSP, KRT16, KRT9, LOR
5structural molecule activityGO:00051988.3DSP, JUP, KRT1, KRT16, LOR

Sources for Palmoplantar Keratosis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet