MCID: KRT023
MIFTS: 22

Keratoderma Palmoplantaris Transgrediens malady

Genetic diseases, Rare diseases, Skin diseases categories

Summaries for Keratoderma Palmoplantaris Transgrediens

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48OMIM, 34MalaCards
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MalaCards: Keratoderma Palmoplantaris Transgrediens, also known as erythrokeratodermia variabilis with erythema gyratum repens, is related to erythrokeratodermia variabilis and erythrokeratodermia variabilis et progressiva. An important gene associated with Keratoderma Palmoplantaris Transgrediens is GJB4 (gap junction protein, beta 4, 30.3kDa), and among its related pathways are Myometrial Relaxation and Contraction Pathways and Clathrin derived vesicle budding. The compounds 10panx and scrambled 10panx have been mentioned in the context of this disorder.

Description from OMIM:48 133200

Aliases & Classifications for Keratoderma Palmoplantaris Transgrediens

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44NIH Rare Diseases, 63UMLS, 48OMIM
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Classifications:

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


Aliases & Descriptions:

keratoderma palmoplantaris transgrediens 44 63
erythrokeratodermia variabilis with erythema gyratum repens 44 48
greither disease 44 63
erythrokeratodermia figurata, congenital familial, in plaques 44
keratosis palmoplantaris transgrediens et progrediens 44
keratosis extremitatum hereditaria progrediens 44
greither's disease 44


Related Diseases for Keratoderma Palmoplantaris Transgrediens

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18GeneCards, 19GeneDecks
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Diseases related to Keratoderma Palmoplantaris Transgrediens via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1erythrokeratodermia variabilis30.3GJB3, GJB4
2erythrokeratodermia variabilis et progressiva10.2
3keratoderma10.1
4clouston syndrome10.0GJB4, GJB3
5skin disease10.0GJB4, GJB3

Graphical network of diseases related to Keratoderma Palmoplantaris Transgrediens:



Diseases related to keratoderma palmoplantaris transgrediens

Symptoms for Keratoderma Palmoplantaris Transgrediens

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48OMIM
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Clinical features from OMIM:

133200

Drugs & Therapeutics for Keratoderma Palmoplantaris Transgrediens

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Keratoderma Palmoplantaris Transgrediens

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Genetic Tests for Keratoderma Palmoplantaris Transgrediens

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Anatomical Context for Keratoderma Palmoplantaris Transgrediens

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Animal Models for Keratoderma Palmoplantaris Transgrediens or affiliated genes

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Publications for Keratoderma Palmoplantaris Transgrediens

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Variations for Keratoderma Palmoplantaris Transgrediens

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Keratoderma Palmoplantaris Transgrediens:

65
id Symbol AA change Variation ID SNP ID
1GJB3p.Gly12AspVAR_002147
2GJB3p.Gly12ArgVAR_002148
3GJB3p.Cys86SerVAR_002149
4GJB3p.Arg42ProVAR_015085
5GJB3p.Phe137LeuVAR_015086
6GJB4p.Phe137LeuVAR_010206

Clinvar genetic disease variations for Keratoderma Palmoplantaris Transgrediens:

1 (show all 11)
id Gene Name Type Significance SNP ID Assembly Location
1GJB4NM_153212.2(GJB4): c.409T> C (p.Phe137Leu)single nucleotide variantPathogenicrs80358207GRCh37Chr 1, 35227264: 35227264
2GJB4NM_153212.2(GJB4): c.411C> A (p.Phe137Leu)single nucleotide variantPathogenicrs80358206GRCh37Chr 1, 35227266: 35227266
3GJB4NM_153212.2(GJB4): c.253A> C (p.Thr85Pro)single nucleotide variantPathogenicrs80358210GRCh37Chr 1, 35227108: 35227108
4GJB4NM_153212.2(GJB4): c.35G> A (p.Gly12Asp)single nucleotide variantPathogenicrs80358211GRCh37Chr 1, 35226890: 35226890
5GJB4NM_153212.2(GJB4): c.65G> A (p.Arg22His)single nucleotide variantPathogenicrs80358212GRCh37Chr 1, 35226920: 35226920
6GJB4NM_153212.2(GJB4): c.566T> A (p.Phe189Tyr)single nucleotide variantPathogenicrs80358213GRCh37Chr 1, 35227421: 35227421
7GJB3NM_024009.2(GJB3): c.34G> C (p.Gly12Arg)single nucleotide variantPathogenicrs74315315GRCh37Chr 1, 35250397: 35250397
8GJB3NM_024009.2(GJB3): c.35G> A (p.Gly12Asp)single nucleotide variantPathogenicrs74315316GRCh37Chr 1, 35250398: 35250398
9GJB3NM_024009.2(GJB3): c.256T> A (p.Cys86Ser)single nucleotide variantPathogenicrs74315317GRCh37Chr 1, 35250619: 35250619
10GJB3NM_024009.2(GJB3): c.125G> C (p.Arg42Pro)single nucleotide variantPathogenicrs74315321GRCh37Chr 1, 35250488: 35250488
11GJB3NM_024009.2(GJB3): c.101T> C (p.Leu34Pro)single nucleotide variantPathogenicrs28937583GRCh37Chr 1, 35250464: 35250464

Expression for genes affiliated with Keratoderma Palmoplantaris Transgrediens

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Keratoderma Palmoplantaris Transgrediens

Search GEO for disease gene expression data for Keratoderma Palmoplantaris Transgrediens.

Pathways for genes affiliated with Keratoderma Palmoplantaris Transgrediens

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Sources:
51PathCards, 39NCBI BioSystems Database, 56Reactome, 54QIAGEN, 31KEGG
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Compounds for genes affiliated with Keratoderma Palmoplantaris Transgrediens

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Sources:
62Tocris Bioscience, 30IUPHAR, 25HMDB, 46Novoseek, 3BitterDB, 12DrugBank
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Compounds related to Keratoderma Palmoplantaris Transgrediens according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
110panx629.3GJB3, GJB4
2scrambled 10panx629.3GJB3, GJB4
3carbenoxolone disodium629.2GJB3, GJB4
4gap 27629.2GJB3, GJB4
5octanol30 2510.1GJB4, GJB3
6flufenamic acid30 46 3 1212.1GJB3, GJB4
7carbenoxolone46 30 1211.0GJB3, GJB4
8ca2+308.8GJB3, GJB4

GO Terms for genes affiliated with Keratoderma Palmoplantaris Transgrediens

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17Gene Ontology
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Cellular components related to Keratoderma Palmoplantaris Transgrediens according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1connexon complexGO:0059229.1GJB3, GJB4

Biological processes related to Keratoderma Palmoplantaris Transgrediens according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell communicationGO:0071549.1GJB3, GJB4

Products for genes affiliated with Keratoderma Palmoplantaris Transgrediens

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  • Antibodies
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Sources for Keratoderma Palmoplantaris Transgrediens

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet