MCID: PLM029
MIFTS: 33

Palmoplantar Keratosis malady

Rare diseases, Skin diseases categories

Summaries for Palmoplantar Keratosis

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NIH Rare Diseases:41 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 palmoplantar keratoderma, 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.

Disease Ontology:9 A keratosis characterized by abnormal thickening of the palms and the soles.

Wikipedia:63 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 9 11 60
Palmoplantar Keratoderma 9 41
Keratoderma, Palmoplantar, Diffuse 60
 
Keratosis Palmaris Et Plantaris 9
Keratoderma, Palmoplantar 41
Keratoderma Palmoplantar 43


Classifications:

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


External Ids:

Disease Ontology9 DOID:3390
NCIt38 C34748
SNOMED-CT55 28596004, 205584004
MeSH33 D007645

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 191)
idRelated DiseaseScoreTop Affiliating Genes
1keratoderma32.2DSG1, KRT9
2pachyonychia congenita31.3KRT9
3palmoplantar keratoderma, nonepidermolytic30.1DSG1, KRT9, CTSC
4skin disease29.9DSG1, GJB6, KRT9, SLURP1
5keratoderma, palmoplantar, with deafness10.8
6focal palmoplantar keratoderma10.8
7keratosis10.8
8unna-thost palmoplantar keratoderma10.8
9cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome10.7
10olmsted syndrome10.7
11naxos disease10.6
12keratoderma, palmoplantar, punctate type ia10.6
13palmoplantar keratoderma and woolly hair10.6
14diffuse palmoplantar keratoderma, bothnian type10.6
15leukoencephalopathy palmoplantar keratoderma10.6
16cardiomyopathy, dilated, with woolly hair and keratoderma10.5
17palmoplantar keratoderma, bothnian type10.5
18tylosis with esophageal cancer10.5
19palmoplantar keratoderma, nonepidermolytic, focal10.5
20pityriasis rubra pilaris10.5
21vohwinkel syndrome10.5
22arrhythmogenic right ventricular cardiomyopathy10.5
23cataract, alopecia, sclerodactyly10.5
24hyperkeratosis palmoplantar localized epidermolytic10.5
25keratoderma palmoplantaris transgrediens10.5
26autosomal dominant palmoplantar keratoderma and congenital alopecia10.5
27hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome10.5
28epidermodysplasia verruciformis10.4
29erythrokeratodermia variabilis et progressiva10.4
30cole disease10.4
31palmoplantar keratoderma, nonepidermolytic, focal or diffuse10.4
32huriez syndrome10.4
33arrhythmogenic right ventricular dysplasia 1110.4
34keratosis palmoplantaris striata i, ad10.4
35erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper ige10.4
36alopecia10.4
37palmoplantar keratoderma of sybert10.4
38porokeratosis plantaris palmaris et disseminata10.4
39hypopigmentation-punctate palmoplantar keratoderma syndrome10.4
40hereditary palmoplantar keratoderma, gamborg-nielsen type10.4
41diffuse palmoplantar keratoderma-acrocyanosis syndrome10.4
42palmoplantar keratoderma - xx sex reversal - predisposition to squamous cell carcinoma10.4
43schopf-schulz-passarge syndrome10.4
44cystic fibrosis10.4
45papillon-lefevre syndrome10.4
46epidermolytic hyperkeratosis10.4
47naegeli-franceschetti-jadassohn syndrome10.4
48dilated cardiomyopathy10.4
49ectodermal dysplasia10.4
50myxedema10.4

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:

31
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 19)
idTitleAuthorsYear
1
Nagashima-type palmoplantar keratosis caused by compound heterozygous mutations in SERPINB7. (25788444)
2015
2
Highly prevalent SERPINB7 founder mutation causes pseudodominant inheritance pattern in Nagashima-type palmoplantar keratosis. (24773080)
2014
3
Palmoplantar keratosis in oculodentodigital dysplasia with a GJA1 point mutation out of the C-terminal region of connexin 43. (25388818)
2014
4
Malignant melanoma arising in the skin lesions of Nagashima-type palmoplantar keratosis. (24721785)
2014
5
Nagashima-type palmoplantar keratosis: a common Asian type caused by SERPINB7 protease inhibitor deficiency. (25029323)
2014
6
New and recurrent SERPINB7 mutations in seven Chinese patients with Nagashima-type palmoplantar keratosis. (24514002)
2014
7
Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause Nagashima-type palmoplantar keratosis. (24207119)
2013
8
Possible nagashima-type palmoplantar keratosis in two siblings. (23626539)
2013
9
Atypical nail dystrophy in a possible case of Nagashima-type palmoplantar keratosis. (21950725)
2012
10
Suspected Nagashima-type palmoplantar keratosis with atypical hyperkeratotic lesions on the ears. (22640937)
2012
11
A familial case of Nagashima-type palmoplantar keratosis. (20542838)
2010
12
Dermatitis herpetiformis Duhring with palmoplantar keratosis. (14674919)
2003
13
Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis. (10581027)
1999
14
Hereditary palmoplantar keratosis of the Gamborg Nielsen type. Clinical and ultrastructural characteristics of a new type of autosomal recessive palmoplantar keratosis. (2260881)
1990
15
Cardiac abnormalities in familial palmoplantar keratosis. (2945574)
1986
16
Punctate palmoplantar keratosis acuminata. An unusual form of tuberculid. (7174181)
1982
17
Palmoplantar keratosis acuminata with facial sebaceous hyperplasia. (4809220)
1974
18
Palmoplantar keratosis of Darier's disease and multiple abnormalities. Ultrastructural study]. (5562223)
1971
19
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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Compounds for genes affiliated with Palmoplantar Keratosis

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Sources:
43Novoseek, 49PharmGKB, 28IUPHAR, 12DrugBank
See all sources

Compounds related to Palmoplantar Keratosis according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1guanidine hydrochloride439.5CTSC, TAT
2glutamine439.3CTSC, TAT, KRT9
3morphine43 49 28 1212.1RHBDF2, TAT
4serine438.3CTSC, TAT, DSG1, SERPINB7

GO Terms for genes affiliated with Palmoplantar Keratosis

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Cellular components related to Palmoplantar Keratosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cell-cell junctionGO:00059119.5PKP2, DSG1
2desmosomeGO:00300579.4PKP2, DSG1
3intermediate filamentGO:00058829.3KRT9, PKP2

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

idNameGO IDScoreTop Affiliating Genes
1cell-cell adhesionGO:00163379.5PKP2, DSG1

Products for genes affiliated with Palmoplantar Keratosis

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  • Antibodies
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Sources for Palmoplantar Keratosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet