Details of Disease

General Information of Disease (ID: DISCGAJS)

• Disease Name: Palmoplantar keratoderma, punctate type 1A
• Synonyms: Kppp1; palmoplantar keratoderma, punctate type 1; keratosis palmoplantaris papulosa; palmoplantar keratoderma, punctate type IA; punctate palmoplantar keratoderma type 1A; keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type; PPKP1A; punctate palmoplantar keratoderma caused by mutation in AAGAB; keratoderma, palmoplantar, punctate type IA; palmoplantar keratoderma, punctate type 1A; AAGAB punctate palmoplantar keratoderma
• Definition: Any punctate palmoplantar keratoderma in which the cause of the disease is a mutation in the AAGAB gene.
• Disease Hierarchy:
  DISFZKWR: Punctate palmoplantar keratoderma type 1
  DISEHSO1: Punctate palmoplantar keratoderma
  DISCGAJS: Palmoplantar keratoderma, punctate type 1A

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AAGAB	OTRGGM2Z	Strong	Autosomal dominant	[1]

References

• [1] The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.