Palmoplantar Keratoderma, Punctate Type Ia (PPKP1A)

Alias:
Keratosis Palmoplantaris Papulosa
Ppkp1
Keratodermia Palmoplantaris Papulosa, Buschke-Fischer-Brauer Type
Punctate Palmoplantar Keratoderma Type I
Punctate Palmoplantar Keratoderma Type 1
Palmoplantar Keratoderma, Punctate Type 1a
Buschke-Fischer-Brauer Syndrome
Ppkp1a
Kppp1
Keratodermia Palmoplantaris Papulosa Buschke-Fischer-Brauer Type
Keratosis Punctate Palmoplantaris Buschke-Fisher-Brauer Type
Keratoderma, Palmoplantar, Punctate, Type Ia
Keratoderma, Palmoplantar, Punctate Type Ia
Keratoderma, Palmoplantar, Punctate Type 1
Palmoplantar Keratoderma, Punctate Type I
Punctate Palmoplantar Keratoderma Type 1a
Punctate Palmoplantar Keratoderma Type 1b
Punctate Palmoplantar Keratoderma Type Ia
Keratoderma, Palmoplantar, Punctate 1a
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Palmoplantar Keratoderma, Punctate Type Ia, also known as keratosis palmoplantaris papulosa, is related to punctate palmoplantar keratoderma and palmoplantar keratosis. An important gene associated with Palmoplantar Keratoderma, Punctate Type Ia is AAGAB (Alpha And Gamma Adaptin Binding Protein). The drugs Carbamide peroxide and Aspartic acid have been mentioned in the context of this disorder. Affiliated tissues include skin and small intestine, and related phenotypes are punctate palmoplantar hyperkeratosis and palmoplantar keratoderma
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Adolescent
1-9/100000
10
28
9

Medical Symptom

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

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

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

References Literature

Title
PMID
Journal
Year
IF
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