MCID: KRT023
MIFTS: 23

Keratoderma Palmoplantaris Transgrediens malady

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

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MalaCards based summary: 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 scrambled 10panx and gap 27 have been mentioned in the context of this disorder.

Description from OMIM:46 133200

Aliases & Classifications for Keratoderma Palmoplantaris Transgrediens

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Keratoderma Palmoplantaris Transgrediens, Aliases & Descriptions:

Name: Keratoderma Palmoplantaris Transgrediens 42 62
Erythrokeratodermia Variabilis with Erythema Gyratum Repens 42 46 62
Keratosis Palmoplantaris Transgrediens Et Progrediens 42 62
Greither Disease 42 62
 
Erythrokeratodermia Figurata, Congenital Familial, in Plaques 42
Keratosis Extremitatum Hereditaria Progrediens 42
Greither's Disease 42


Classifications:

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


Related Diseases for Keratoderma Palmoplantaris Transgrediens

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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 variabilis30.1GJB3, GJB4
2erythrokeratodermia variabilis et progressiva10.2
3keratoderma10.1
4clouston syndrome9.9GJB4, GJB3
5skin disease9.9GJB4, 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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Clinical features from OMIM:

133200

Drugs & Therapeutics for Keratoderma Palmoplantaris Transgrediens

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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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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:

6 (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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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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Compounds for genes affiliated with Keratoderma Palmoplantaris Transgrediens

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Compounds related to Keratoderma Palmoplantaris Transgrediens according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1scrambled 10panx619.3GJB3, GJB4
2gap 27619.3GJB4, GJB3
3carbenoxolone disodium619.2GJB4, GJB3
410panx619.2GJB3, GJB4
5octanol28 2410.1GJB3, GJB4
6flufenamic acid28 44 2 1112.1GJB4, GJB3
7carbenoxolone44 28 1111.0GJB4, GJB3
8ca2+288.8GJB4, GJB3

GO Terms for genes affiliated with Keratoderma Palmoplantaris Transgrediens

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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
  • Proteins
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Sources for Keratoderma Palmoplantaris Transgrediens

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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