MCID: PLM029
MIFTS: 42

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 haim-munk syndrome 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 phenotypes are Negative genetic interaction between BLM-/- and BLM+/+ and growth/size/body region.

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 68)
idRelated DiseaseScoreTop Affiliating Genes
1haim-munk syndrome32.0CTSC, SLURP1
2palmoplantar keratoderma, nonepidermolytic31.7KRT1, KRT16
3palmoplantar keratoderma, epidermolytic29.8DSP, KRT1, KRT16, KRT9, LOR
4palmoplantar keratoderma and woolly hair12.4
5keratosis palmaris et plantaris with clinodactyly12.4
6keratoderma, palmoplantar, punctate type ia12.2
7keratoderma, palmoplantar, with deafness12.2
8keratoderma palmoplantar spastic paralysis12.0
9keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy11.9
10palmoplantar keratoderma, nagashima type11.1
11papillon-lefevre syndrome10.9
12tyrosinemia, type ii10.9
13punctate palmoplantar keratoderma10.9
14keratosis10.5
15ebola hemorrhagic fever10.5KRT1, KRT9
16cardiomyopathy, dilated, 1bb10.4DSG1, DSP
17dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis10.3DSP, JUP
18growth hormone deficiency10.3DSP, JUP
19gastric cardia carcinoma10.3DSG1, DSP
20arrhythmogenic right ventricular dysplasia 810.3DSP, JUP
21laryngeal disease10.3DSG1, DSP
22frontotemporal dementia, right temporal atrophy variant10.3DSP, JUP
23fixed pigmented erythema10.3DSP, JUP
24ketamine-induced biliary dilatation10.3DSP, JUP
25autism spectrum disorder10.3DSG1, DSP
26codas syndrome10.3DSP, JUP
27impetigo10.3DSG1, DSP
28ectodermal dysplasia/skin fragility syndrome10.3DSP, JUP
29klippel-feil syndrome 210.3DSP, JUP
30non-hypoproteinemic hypertrophic gastropathy10.2GJB2, GJB3
31white sponge nevus 110.2KRT1, KRT16
32noonan syndrome with multiple lentigines10.2GJB2, GJB3
33deafness, autosomal dominant 3a10.2GJB2, GJB3
34ichthyosis histrix, curth-macklin type10.2KRT1, KRT16
35punctate palmoplantar keratoderma type 210.2GJB2, GJB3
36continuous spike-wave during slow sleep syndrome10.2GJB2, GJB3
37cirrhotic cardiomyopathy10.2DSG1, DSP
38sublingual gland cancer10.1GJB2, GJB3
39nonsyndromic hearing loss and deafness, autosomal recessive10.1GJB2, GJB3
40spastic paraplegia 50, autosomal recessive10.1GJB2, GJB3
41acute poisoning by drugs with membrane-stabilizing effect10.1DSG1, DSP, KRT1
42self-healing papular mucinosis10.0GJB2, GJB3
43peripheral t-cell lymphoma10.0DSG1, DSP, JUP
44lipoma10.0DSG1, DSP, JUP
45lipomatosis10.0DSG1, KRT16
46dementia, familial british10.0GJB2, GJB3, SLURP1
47sed, maroteaux type10.0DSP, JUP
48autoimmune disease of skin and connective tissue10.0DSP, JUP
49keratosis palmoplantaris striata iii10.0KRT1, KRT16, KRT9
50epidermolysis bullosa simplex, dowling-meara type9.9KRT1, KRT16, KRT9

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00255-A-18.0GJB3, JUP, KRT16, LOR

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053787.9CTSC, DSG1, DSP, GJB2, JUP, KRT1
2MP:00107717.7CTSC, 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 3397185243-69-0
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 38109
3Peripheral Nervous System AgentsPhase 322776
4AnalgesicsPhase 311287
5Immunosuppressive AgentsPhase 312770
6Antirheumatic AgentsPhase 310627
7Anti-Inflammatory AgentsPhase 310355
8Analgesics, Non-NarcoticPhase 36260
9Anti-Inflammatory Agents, Non-SteroidalPhase 34295
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-gamma145
12Contraceptives, Oral1292
13interferons2137
14Dermatologic Agents5674
15Keratolytic Agents420
16Contraceptive Agents1901

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
Identification and Characterization of a Recessive Missense Mutation p.P277L in SERPINB7 in Nagashima-Type Palmoplantar Keratosis. (26763456)
2016
2
Nagashima-type palmoplantar keratosis in a Chinese Han population. (27666198)
2016
3
Identification of SERPINB7 mutations in Korean patients with Nagashima-type palmoplantar keratosis. (27543371)
2016
4
Progressive Nagashima-type palmoplantar keratosis in a Chinese patient with recurrent c.796C>T mutation in SERPINB7. (27506501)
2016
5
Extensive Erythema and Hyperkeratosis on the Extremities and Lumbar Area as an Unusual Mani-festation of Nagashima-type Palmoplantar Keratosis. (26926003)
2016
6
Novel frame-shift mutation in SERPINB7 in a Japanese patient with Nagashima-type palmoplantar keratosis. (27569382)
2016
7
A sporadic case of Nagashima-type palmoplantar keratosis caused by gene mutation in SERPINB7. (27663160)
2016
8
Identification and Characterization of a Recessive Missense Mutation p.P277L in SERPINB7 in Nagashima-Type Palmoplantar Keratosis. (26334323)
2015
9
Possible cases of Nagashima-type palmoplantar keratosis? Comment on the article by Guo et al. (26453541)
2015
10
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
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
New and recurrent SERPINB7 mutations in seven Chinese patients with Nagashima-type palmoplantar keratosis. (24514002)
2014
14
Highly prevalent SERPINB7 founder mutation causes pseudodominant inheritance pattern in Nagashima-type palmoplantar keratosis. (24773080)
2014
15
Palmoplantar keratosis in oculodentodigital dysplasia with a GJA1 point mutation out of the C-terminal region of connexin 43. (25388818)
2014
16
Nagashima-type palmoplantar keratosis: a common Asian type caused by SERPINB7 protease inhibitor deficiency. (25029323)
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
Atypical nail dystrophy in a possible case of Nagashima-type palmoplantar keratosis. (21950725)
2012
20
Suspected Nagashima-type palmoplantar keratosis with atypical hyperkeratotic lesions on the ears. (22640937)
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
Palmoplantar keratosis of Darier's disease and multiple abnormalities. Ultrastructural study]. (5562223)
1971
29
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
19.6DSP, JUP
2
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:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1cytoplasmic side of plasma membraneGO:000989810.3DSG1, JUP
2connexin complexGO:000592210.3GJB2, GJB3
3fascia adherensGO:000591610.2DSP, JUP
4intercalated discGO:001470410.2DSP, JUP
5gap junctionGO:000592110.1GJB2, GJB3
6cornified envelopeGO:000153310.1DSP, LOR
7desmosomeGO:003005710.0DSG1, DSP, JUP
8cell-cell junctionGO:00059119.5DSG1, DSP, GJB3, JUP
9extracellular matrixGO:00310129.4DSG1, DSP, JUP, KRT1
10intermediate filamentGO:00058829.1DSP, JUP, KRT16, KRT9
11lateral plasma membraneGO:00163289.1DSG1, GJB2, JUP
12extracellular exosomeGO:00700628.0CTSC, DSG1, DSP, JUP, KRT1, KRT16

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1intermediate filament organizationGO:004510910.4DSP, KRT9
2adherens junction organizationGO:003433210.3DSP, JUP
3bundle of His cell-Purkinje myocyte adhesion involved in cell communicationGO:008607310.3DSP, JUP
4regulation of heart rate by cardiac conductionGO:008609110.2DSP, JUP
5regulation of ventricular cardiac muscle cell action potentialGO:009891110.2DSP, JUP
6response to progesteroneGO:003257010.2DSG1, GJB2
7intermediate filament cytoskeleton organizationGO:004510410.1DSP, KRT16
8establishment of skin barrierGO:006143610.1KRT1, KRT16
9epidermis developmentGO:00085449.8DSP, KRT16, KRT9
10keratinizationGO:00314249.7KRT16, LOR
11single organismal cell-cell adhesionGO:00163379.7DSG1, DSP, JUP
12keratinocyte differentiationGO:00302169.3DSP, KRT16, LOR
13skin developmentGO:00435888.8DSP, 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:008608310.2DSP, JUP
2gap junction channel activityGO:000524310.1GJB2, GJB3
3structural constituent of cytoskeletonGO:00052009.0DSP, KRT16, KRT9, LOR
4structural molecule activityGO:00051988.4DSP, JUP, KRT1, 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