MCID: PLM029
MIFTS: 38

Palmoplantar Keratosis malady

Rare diseases, Skin diseases categories
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Summaries for Palmoplantar Keratosis

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NIH Rare Diseases:42 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 keratoderma and pachyonychia congenita. An important gene associated with Palmoplantar Keratosis is CTSC (cathepsin C). The compounds guanidine hydrochloride and glutamine have been mentioned in the context of this disorder. Affiliated tissues include skin.

Wikipedia:65 Meleda disease (MDM) or \"mal de Meleda\", also called Mljet disease, keratosis palmoplantaris and... more...

Aliases & Classifications for Palmoplantar Keratosis

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Palmoplantar Keratosis, Aliases & Descriptions:

Name: Palmoplantar Keratosis 8 10 62
Keratoderma, Palmoplantar 42 62
Palmoplantar Keratoderma 8 42
 
Keratoderma, Palmoplantar, Diffuse 62
Keratosis Palmaris Et Plantaris 8
Keratoderma Palmoplantar 44


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Skin diseases


External Ids:

Disease Ontology8 DOID:3390
NCIt39 C34748
SNOMED-CT57 205584004, 28596004
MeSH34 D007645

Related Diseases for Palmoplantar Keratosis

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

(show top 50)    (show all 143)
idRelated DiseaseScoreTop Affiliating Genes
1keratoderma32.3KRT9, DSG1
2pachyonychia congenita31.3KRT9
3nonepidermolytic palmoplantar keratoderma30.1DSG1, KRT9, CTSC
4skin disease29.9SLURP1, KRT9, GJB6, DSG1
5keratoderma palmoplantar deafness10.8
6focal palmoplantar keratoderma10.8
7keratosis10.8
8unna-thost palmoplantar keratoderma10.7
9diffuse palmoplantar keratoderma, bothnian type10.7
10keratosis palmaris et plantaris - clinodactyly10.7
11cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome10.6
12tylosis with esophageal cancer10.6
13naxos disease10.6
14olmsted syndrome10.5
15erythrokeratodermia variabilis et progressiva10.5
16keratoderma palmoplantar spastic paralysis10.5
17keratosis palmoplantaris striata i, ad10.5
18autosomal dominant palmoplantar keratoderma and congenital alopecia10.5
19autosomal recessive palmoplantar keratoderma and congenital alopecia10.5
20hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome10.5
21epidermodysplasia verruciformis10.4
22epidermolytic hyperkeratosis10.4
23alopecia10.4
24arrhythmogenic right ventricular cardiomyopathy10.4
25cardiomyopathy dilated with woolly hair and keratoderma10.4
26leukoencephalopathy palmoplantar keratoderma10.4
27keratoderma, palmoplantar, punctate type ia10.4
28cystic fibrosis10.4
29dilated cardiomyopathy10.4
30pityriasis rubra pilaris10.4
31myxedema10.4
32keratosis palmoplantaris papulosa10.4
33meleda disease10.4
34palmoplantar keratoderma of sybert10.4
35vohwinkel syndrome10.4
36palmoplantar keratoderma, mutilating, with periorificial keratotic plaques10.4
37cole disease10.4
38palmoplantar keratoderma, bothnia type10.4
39palmoplantar keratoderma, nonepidermolytic, focal or diffuse10.4
40palmoplantar keratoderma-sclerodactyly syndrome10.4
41hereditary palmoplantar keratoderma, gamborg-nielsen type10.4
42palmoplantar keratoderma with tonotubular keratin10.4
43ectodermal dysplasia10.3
44keratosis follicularis10.3
45sensorineural hearing loss10.3
46ainhum10.3
47papillon-lefevre disease10.3
48dermatophytosis10.3
49hypotrichosis10.3
50myeloma10.3

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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Drug clinical trials:

Search ClinicalTrials for Palmoplantar Keratosis

Search NIH Clinical Center for Palmoplantar Keratosis

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:

32
Skin

Animal Models for Palmoplantar Keratosis or affiliated genes

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Publications for Palmoplantar Keratosis

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Articles related to Palmoplantar Keratosis:

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

Search GEO for disease gene expression data for Palmoplantar Keratosis.

Pathways for genes affiliated with Palmoplantar Keratosis

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Compounds for genes affiliated with Palmoplantar Keratosis

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Sources:
44Novoseek, 50PharmGKB, 28IUPHAR, 11DrugBank
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Compounds related to Palmoplantar Keratosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1guanidine hydrochloride449.5CTSC, TAT
2glutamine449.3CTSC, TAT, KRT9
3morphine44 50 28 1112.1RHBDF2, TAT
4serine448.3CTSC, TAT, DSG1, SERPINB7

GO Terms for genes affiliated with Palmoplantar Keratosis

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Cellular components related to Palmoplantar Keratosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell-cell junctionGO:0059119.5PKP2, DSG1
2desmosomeGO:0300579.4PKP2, DSG1
3intermediate filamentGO:0058829.3KRT9, PKP2

Biological processes related to Palmoplantar Keratosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell-cell adhesionGO:0163379.5PKP2, DSG1

Products for genes affiliated with Palmoplantar Keratosis

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  • Antibodies
  • Proteins
  • Lysates

Sources for Palmoplantar Keratosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet