Nonepidermolytic Palmoplantar Keratoderma

Hereditary, autosomal dominant nonepidermolytic palmoplantar keratoderma that is caused by mutations in the KERATIN-1 (KRT1) gene. OMIM: 600962

Also Known As:

Palmoplantar Keratoderma, Nonepidermolytic; Keratoderma, Nonepidermolytic Palmoplantar; NEPPK Nonepidermolytic Palmoplantar Keratoderma

Networked: 6 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Skin Diseases (Skin Disease)
2.	Deafness (Deaf Mutism)

Experts

1.	He, Yongping: 1 article (07/2018)
2.	Wang, Dan: 1 article (07/2018)
3.	Wang, Sheng: 1 article (07/2018)
4.	Abdul-Wahab, A: 1 article (02/2016)
5.	Akiyama, M: 1 article (02/2016)
6.	Hughes, B: 1 article (02/2016)
7.	Liu, L: 1 article (02/2016)
8.	Lomas, D: 1 article (02/2016)
9.	McGrath, J A: 1 article (02/2016)
10.	Mellerio, J E: 1 article (02/2016)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Nonepidermolytic Palmoplantar Keratoderma:

1.	Serine Proteases (Serine Protease)IBA 01/01/2000 - "Human pancreatic elastase 1 is a serine protease which maps to the chromosomal region 12q13 close to a locus for an autosomal dominant skin disease, diffuse nonepidermolytic palmoplantar keratoderma, and was investigated as a possible candidate gene for this disorder. "
2.	Aquaporin 5IBA 02/01/2016 - "Autosomal dominant diffuse nonepidermolytic palmoplantar keratoderma due to a recurrent mutation in aquaporin-5."
3.	Desmoglein 1IBA 07/01/2018 - "A novel heterozygous missense mutation of the desmoglein 1 gene in a Chinese family with diffuse nonepidermolytic palmoplantar keratoderma."
4.	Aquaporins (Water Channels)IBA 08/08/2013 - "Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma."
5.	Nonsense Codon (Nonsense Mutation)IBA 05/01/2005 - "Diffuse nonepidermolytic palmoplantar keratoderma caused by a recurrent nonsense mutation in DSG1."
6.	Pancreatic Elastase (Elastase)IBA 01/01/2000 - "Human pancreatic elastase 1 is a serine protease which maps to the chromosomal region 12q13 close to a locus for an autosomal dominant skin disease, diffuse nonepidermolytic palmoplantar keratoderma, and was investigated as a possible candidate gene for this disorder. "
7.	Mitochondrial DNA (mtDNA)IBA 07/01/2005 - "Mitochondrial DNA (mtDNA) A7445G point mutation has been shown to be responsible for familial nonepidermolytic palmoplantar keratoderma (NEPPK) associated with deafness without any additional features. "