Palmoplantar Keratoderma, Punctate Type Iii (PPKP3)

Alias:
Acrokeratoelastoidosis of Costa
Punctate Palmoplantar Hyperkeratosis Type 3
Punctate Palmoplantar Keratoderma Type Iii
Punctate Palmoplantar Keratoderma Type 3
Ppkp3
Ake
Keratoderma, Palmoplantar, Punctate Type 3
Collagenous Plaques of Hands and Feet
Acrokeratoelastoidosis
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Palmoplantar Keratoderma, Punctate Type Iii, also known as acrokeratoelastoidosis of costa, is related to ochronosis and connective tissue disease. An important gene associated with Palmoplantar Keratoderma, Punctate Type Iii is HGD (Homogentisate 1,2-Dioxygenase), and among its related pathways/superpathways are Mesenchymal Stem Cells and Lineage-specific Markers and Clock-controlled autophagy in bone metabolism. Affiliated tissues include skin, and related phenotypes are palmoplantar hyperkeratosis and hyperkeratotic papule
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Adolescent
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7
57
8

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Mutations
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Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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