Palmoplantar Keratoderma with Deafness

Also Known As:

Diffuse palmoplantar keratoderma with deafness; Focal palmoplantar keratoderma with sensorineural deafness; Hereditary palmoplantar keratoderma with deafness; Keratoderma palmoplantar deafness; Keratoderma palmoplantar, with deafness; Keratoderma, Palmoplantar, With Deafness; Palmoplantar Hyperkeratosis-Deafness Syndrome; Palmoplantar Hyperkeratosis-Hearing Loss Syndrome; Palmoplantar Keratoderma-Deafness Syndrome; Palmoplantar Keratoderma-Hearing Loss Syndrome; Palmoplantar keratoderma and sensorineural deafness; Ppk with Deafness; Ppk-Deafness Syndrome

Networked: 4 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Keratitis
2.	Ichthyosis (Xeroderma)
3.	Deafness (Deaf Mutism)
4.	Palmoplantar Keratoderma (Keratosis Palmaris et Plantaris)
5.	Nonsyndromic Deafness

Experts

1.	Bedoukian, Emma C: 1 article (01/2021)
2.	Laird, Dale W: 1 article (01/2021)
3.	Rentas, Stefan: 1 article (01/2021)
4.	Shao, Qing: 1 article (01/2021)
5.	Skraban, Cara: 1 article (01/2021)
6.	Sullivan, Kathleen E: 1 article (01/2021)
7.	Treat, James: 1 article (01/2021)
8.	Lilly, Evelyn: 1 article (02/2016)
9.	Milstone, Leonard M: 1 article (02/2016)
10.	Sellitto, Caterina: 1 article (02/2016)

Drugs and Biologics

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

1.	Connexin 26IBA 02/01/2014 - "Mutations in connexin 26 are linked to diseases including Vohwinkel syndrome, keratitis-ichthyosis deafness, and hystrix-like ichthyosis deafness syndromes, palmoplantar keratoderma with deafness, deafness with Clouston-like phenotype, and Bart-Pumphrey syndrome. " 02/01/2016 - "In palmoplantar keratoderma with deafness, the connexin 26 mutations transdominantly alter the function of wild-type connexin 43 and create leaky heteromeric hemichannels. "
2.	Connexin 43 (Connexin43)IBA 02/01/2016 - "In palmoplantar keratoderma with deafness, the connexin 26 mutations transdominantly alter the function of wild-type connexin 43 and create leaky heteromeric hemichannels. "
3.	ConnexinsIBA 01/01/2021 - "Variants in the GJB2 gene encoding the gap junction protein connexin-26 (Cx26) can cause autosomal recessive nonsyndromic hearing loss or a variety of phenotypically variable autosomal dominant disorders that effect skin and hearing, such as palmoplantar keratoderma (PPK) with deafness and keratitis-ichthyosis-deafness (KID) syndrome. "
4.	Glycine (Aminoacetic Acid)FDA LinkGeneric 08/01/2009 - "Mutations in glycine 59 of Cx26 are associated with PPK-deafness syndrome, and the similar phenotype here supports the observed heteromeric channel formation; the dominant nature of the mutation suggests an effect on gap junctions similar to that of the comparable mutation in Cx26."