MCID: KRT023
MIFTS: 22

Keratoderma Palmoplantaris Transgrediens malady

Genetic diseases, Rare diseases, Skin diseases categories
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Summaries for Keratoderma Palmoplantaris Transgrediens

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47OMIM, 33MalaCards
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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:47 133200

Aliases & Classifications for Keratoderma Palmoplantaris Transgrediens

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43NIH Rare Diseases, 62UMLS, 47OMIM
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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 43 62
erythrokeratodermia variabilis with erythema gyratum repens 43 47
greither disease 43 62
erythrokeratodermia figurata, congenital familial, in plaques 43
keratosis palmoplantaris transgrediens et progrediens 43
keratosis extremitatum hereditaria progrediens 43
greither's disease 43


Related Diseases for Keratoderma Palmoplantaris Transgrediens

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17GeneCards, 18GeneDecks
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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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47OMIM
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Clinical features from OMIM:

133200

Drugs & Therapeutics for Keratoderma Palmoplantaris Transgrediens

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Keratoderma Palmoplantaris Transgrediens

Search NIH Clinical Center for Keratoderma Palmoplantaris Transgrediens

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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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Keratoderma Palmoplantaris Transgrediens:

64
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, 15Gene 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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50PathCards, 38NCBI BioSystems Database, 55Reactome, 53QIAGEN, 30KEGG
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Compounds for genes affiliated with Keratoderma Palmoplantaris Transgrediens

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Sources:
61Tocris Bioscience, 29IUPHAR, 24HMDB, 45Novoseek, 3BitterDB, 11DrugBank
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Compounds related to Keratoderma Palmoplantaris Transgrediens according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
110panx619.3GJB3, GJB4
2scrambled 10panx619.3GJB3, GJB4
3carbenoxolone disodium619.2GJB3, GJB4
4gap 27619.2GJB3, GJB4
5octanol29 2410.1GJB4, GJB3
6flufenamic acid29 45 3 1112.1GJB3, GJB4
7carbenoxolone45 29 1111.0GJB3, GJB4
8ca2+298.8GJB3, GJB4

GO Terms for genes affiliated with Keratoderma Palmoplantaris Transgrediens

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16Gene 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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  • Antibodies

Sources for Keratoderma Palmoplantaris Transgrediens

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet