MCID: PLM029
MIFTS: 40

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 66
Keratoderma, Palmoplantar 46 25 37
Palmoplantar Keratoderma 11 46
 
Keratoderma, Palmoplantar, Diffuse 66
Keratosis Palmaris Et Plantaris 11
Keratoderma Palmoplantar 48

Classifications:



External Ids:

Disease Ontology11 DOID:3390
ICD1028 L85.2
MeSH37 D007645
NCIt43 C34748

Summaries for Palmoplantar Keratosis

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NIH Rare Diseases:46 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, epidermolytic. 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, and related mouse phenotype integument.

Disease Ontology:11 A keratosis characterized by abnormal thickening of the palms and the soles.

Wikipedia:69 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 52)
idRelated DiseaseScoreTop Affiliating Genes
1haim-munk syndrome30.4CTSC, SLURP1
2palmoplantar keratoderma, epidermolytic30.4DSP, KRT1, KRT16, KRT74, KRT9
3palmoplantar keratoderma, nonepidermolytic29.9KRT1, KRT16
4keratosis palmaris et plantaris with clinodactyly12.5
5palmoplantar keratoderma and woolly hair12.4
6keratoderma, palmoplantar, with deafness12.3
7keratoderma, palmoplantar, punctate type ia12.3
8keratoderma palmoplantar spastic paralysis12.1
9keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy12.0
10tylosis with esophageal cancer11.6
11keratosis10.6
12cranial nerve malignant neoplasm10.4JUP, KRT74
13ebola hemorrhagic fever10.3KRT1, KRT9
14fanconi ichthyosis dysmorphism10.2DSP, KRT74
15palmoplantar keratoderma, nagashima type10.2
16dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis10.1DSP, JUP
17growth hormone deficiency10.1DSP, JUP
18arrhythmogenic right ventricular dysplasia 810.1DSP, JUP
19frontotemporal dementia, right temporal atrophy variant10.1DSP, JUP
20acute poisoning by drugs with membrane-stabilizing effect10.1DSP, KRT1
21fixed pigmented erythema10.1DSP, JUP
22ketamine-induced biliary dilatation10.0DSP, JUP
23papillon-lefevre syndrome10.0
24tyrosinemia, type ii10.0
25punctate palmoplantar keratoderma10.0
26codas syndrome10.0DSP, JUP
27ectodermal dysplasia/skin fragility syndrome10.0DSP, JUP
28klippel-feil syndrome 210.0DSP, JUP
29oculodentodigital dysplasia9.9
30melanoma9.9
31dermatitis9.9
32periodontal disease9.9
33periodontitis9.9
34dermatitis herpetiformis9.9
35white sponge nevus 19.9KRT1, KRT16
36peripheral t-cell lymphoma9.8DSP, JUP
37ichthyosis histrix, curth-macklin type9.8KRT1, KRT16
38autoimmune disease of skin and connective tissue9.8DSP, JUP, KRT74
39abnormal pupillary function9.8KRT16, KRT6A
40pachyonychia congenita 29.7KRT16, KRT6A
41lipoma9.7DSP, JUP
42familial lipoprotein lipase deficiency9.7KRT16, KRT6A
43hypothyroidism9.6KRT16, KRT6A
44familial retinoblastoma9.5KRT1, KRT16
45keratosis palmoplantaris striata iii9.5KRT1, KRT16, KRT9
46sed, maroteaux type9.5DSP, JUP
47lissencephaly9.5KRT16, KRT6A, KRT9
48ichthyosis, cyclic, with epidermolytic hyperkeratosis9.5KRT1, KRT16, KRT9
49ectodermal dysplasia 4, hair/nail type9.2KRT16, KRT6A, KRT74, KRT9
50breast fibroadenoma9.2CTSC, KRT1, KRT9, SERPINB7, SLURP1, TAT

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
1
EtanerceptPhase 3391185243-69-0
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
2interferons2112
3
Acitretin3055079-83-96437841, 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

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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Genetic tests related to Palmoplantar Keratosis:

id Genetic test Affiliating Genes
1 Palmoplantar Keratoderma25

Anatomical Context for Palmoplantar Keratosis

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MalaCards organs/tissues related to Palmoplantar Keratosis:

34
Skin

Animal Models for Palmoplantar Keratosis or affiliated genes

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MGI Mouse Phenotypes related to Palmoplantar Keratosis:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107717.4CTSC, DSP, JUP, KRT1, KRT16, SLURP1

Publications for Palmoplantar Keratosis

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Articles related to Palmoplantar Keratosis:

(show all 28)
idTitleAuthorsYear
1
Identification and Characterization of a Recessive Missense Mutation p.P277L in SERPINB7 in Nagashima-Type Palmoplantar Keratosis. (26763456)
2016
2
Identification of SERPINB7 mutations in Korean patients with Nagashima-type palmoplantar keratosis. (27543371)
2016
3
Progressive Nagashima-type palmoplantar keratosis in a Chinese patient with recurrent c.796C>T mutation in SERPINB7. (27506501)
2016
4
Extensive Erythema and Hyperkeratosis on the Extremities and Lumbar Area as an Unusual Mani-festation of Nagashima-type Palmoplantar Keratosis. (26926003)
2016
5
Novel frame-shift mutation in SERPINB7 in a Japanese patient with Nagashima-type palmoplantar keratosis. (27569382)
2016
6
A sporadic case of Nagashima-type palmoplantar keratosis caused by gene mutation in SERPINB7. (27663160)
2016
7
Identification and Characterization of a Recessive Missense Mutation p.P277L in SERPINB7 in Nagashima-Type Palmoplantar Keratosis. (26334323)
2015
8
Possible cases of Nagashima-type palmoplantar keratosis? Comment on the article by Guo et al. (26453541)
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
Nagashima-type palmoplantar keratosis caused by compound heterozygous mutations in SERPINB7. (25788444)
2015
11
Malignant melanoma arising in the skin lesions of Nagashima-type palmoplantar keratosis. (24721785)
2014
12
New and recurrent SERPINB7 mutations in seven Chinese patients with Nagashima-type palmoplantar keratosis. (24514002)
2014
13
Highly prevalent SERPINB7 founder mutation causes pseudodominant inheritance pattern in Nagashima-type palmoplantar keratosis. (24773080)
2014
14
Palmoplantar keratosis in oculodentodigital dysplasia with a GJA1 point mutation out of the C-terminal region of connexin 43. (25388818)
2014
15
Nagashima-type palmoplantar keratosis: a common Asian type caused by SERPINB7 protease inhibitor deficiency. (25029323)
2014
16
Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause Nagashima-type palmoplantar keratosis. (24207119)
2013
17
Possible nagashima-type palmoplantar keratosis in two siblings. (23626539)
2013
18
Atypical nail dystrophy in a possible case of Nagashima-type palmoplantar keratosis. (21950725)
2012
19
Suspected Nagashima-type palmoplantar keratosis with atypical hyperkeratotic lesions on the ears. (22640937)
2012
20
A familial case of Nagashima-type palmoplantar keratosis. (20542838)
2010
21
Dermatitis herpetiformis Duhring with palmoplantar keratosis. (14674919)
2003
22
Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis. (10581027)
1999
23
Hereditary palmoplantar keratosis of the Gamborg Nielsen type. Clinical and ultrastructural characteristics of a new type of autosomal recessive palmoplantar keratosis. (2260881)
1990
24
Cardiac abnormalities in familial palmoplantar keratosis. (2945574)
1986
25
Punctate palmoplantar keratosis acuminata. An unusual form of tuberculid. (7174181)
1982
26
Palmoplantar keratosis acuminata with facial sebaceous hyperplasia. (4809220)
1974
27
Palmoplantar keratosis of Darier's disease and multiple abnormalities. Ultrastructural study]. (5562223)
1971
28
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
19.4DSP, JUP
29.4DSP, JUP
3
Show member pathways
8.0DSP, KRT1, KRT16, KRT6A

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
1fascia adherensGO:00059169.9DSP, JUP
2intercalated discGO:00147049.7DSP, JUP
3keratin filamentGO:00450959.7KRT1, KRT6A, KRT74
4desmosomeGO:00300579.6DSP, JUP
5extracellular matrixGO:00310129.3DSP, JUP, KRT1
6extracellular spaceGO:00056158.3CTSC, KRT1, KRT9, SERPINB7, SLURP1
7intermediate filamentGO:00058828.1DSP, JUP, KRT16, KRT6A, KRT9
8extracellular exosomeGO:00700626.2CTSC, DSP, JUP, KRT1, KRT16, KRT6A

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1adherens junction organizationGO:00343329.7DSP, JUP
2intermediate filament organizationGO:00451099.6DSP, KRT9
3regulation of heart rate by cardiac conductionGO:00860919.4DSP, JUP
4establishment of skin barrierGO:00614369.3KRT1, KRT16
5bundle of His cell-Purkinje myocyte adhesion involved in cell communicationGO:00860739.3DSP, JUP
6skin developmentGO:00435889.2DSP, JUP, KRT9
7regulation of ventricular cardiac muscle cell action potentialGO:00989119.1DSP, JUP
8epidermis developmentGO:00085448.9DSP, KRT16, KRT9
9intermediate filament cytoskeleton organizationGO:00451048.5DSP, KRT16, KRT6A, KRT74

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:00860839.4DSP, JUP
2structural molecule activityGO:00051988.1DSP, JUP, KRT1, KRT6A, KRT74
3structural constituent of cytoskeletonGO:00052008.0DSP, KRT16, KRT6A, KRT9

Sources for Palmoplantar Keratosis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet