palmoplantar keratoderma, punctate type 1A

Rare Disease

MONDO:0007858

Also Known As

AAGAB punctate palmoplantar keratodermakeratoderma, palmoplantar, punctate type IApalmoplantar keratoderma, punctate type 1Apunctate palmoplantar keratoderma caused by mutation in AAGABKppp1PPKP1Akeratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer typekeratosis palmoplantaris papulosapalmoplantar keratoderma, punctate type 1palmoplantar keratoderma, punctate type IApunctate palmoplantar keratoderma type 1A

Definition

Any punctate palmoplantar keratoderma in which the cause of the disease is a mutation in the AAGAB gene.

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Associated Genes

AAGAB ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:148600 ↗

GARD

GARD:15081 ↗

Related Diseases

palmoplantar keratoderma, punctate type ib

MONDO:0013980

Rare

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