MCID: KRT023
MIFTS: 14

Keratoderma Palmoplantaris Transgrediens malady

Genetic diseases category

Summaries for Keratoderma Palmoplantaris Transgrediens

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46OMIM, 32MalaCards
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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).

Description from OMIM:46 133200

Aliases & Classifications for Keratoderma Palmoplantaris Transgrediens

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Sources:
42NIH Rare Diseases, 46OMIM, 60UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases


Aliases & Descriptions:

keratoderma palmoplantaris transgrediens 42 60
erythrokeratodermia variabilis with erythema gyratum repens 42 46
greither disease 42 60
erythrokeratodermia figurata, congenital familial, in plaques 42
keratosis extremitatum hereditaria progrediens 42
greither's disease 42


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 variabilis10.6
2erythrokeratodermia variabilis et progressiva10.2

Clinical Features for Keratoderma Palmoplantaris Transgrediens

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46OMIM
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Clinical features from OMIM:

133200

Drugs & Therapeutics for Keratoderma Palmoplantaris Transgrediens

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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

Search CenterWatch 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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Genetic Variations for Keratoderma Palmoplantaris Transgrediens

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Keratoderma Palmoplantaris Transgrediens:

62
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

Expression for genes affiliated with Keratoderma Palmoplantaris Transgrediens

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Keratoderma Palmoplantaris Transgrediens

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Pathways for genes affiliated with Keratoderma Palmoplantaris Transgrediens

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Compounds for genes affiliated with Keratoderma Palmoplantaris Transgrediens

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GO Terms for genes affiliated with Keratoderma Palmoplantaris Transgrediens

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Products for genes affiliated with Keratoderma Palmoplantaris Transgrediens

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet