leuconychia and sensorineural deafness Knuckle pads

Also Known As:

Knuckle pads, leuconychia and sensorineural deafness; Bart Pumphrey syndrome; Bart-Pumphrey Syndrome; Knuckle Pads, Leukonychia, and Sensorineural Deafness; Knuckle pads, leukonychia, deafness, and keratosis palmoplantaris

Networked: 3 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Multiple Abnormalities: 211
    - leuconychia and sensorineural deafness Knuckle pads: 3
- Inborn Genetic Diseases: 11939
  - Genetic Skin Diseases: 47
    - Palmoplantar Keratoderma: 313
      - leuconychia and sensorineural deafness Knuckle pads: 3
Otorhinolaryngologic Diseases: 203
- Ear Diseases: 261
  - Hearing Disorders: 325
    - Hearing Loss: 12265
      - Sensorineural Hearing Loss: 3974
        leuconychia and sensorineural deafness Knuckle pads: 3
Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Sensation Disorders: 117
    - Hearing Disorders: 325
      - Hearing Loss: 12265
        Sensorineural Hearing Loss: 3974
        leuconychia and sensorineural deafness Knuckle pads: 3
Signs and Symptoms Pathological Conditions
- Signs and Symptoms
  - Neurologic Manifestations: 7102
    - Sensation Disorders: 117
      - Hearing Disorders: 325
        Hearing Loss: 12265
        Sensorineural Hearing Loss: 3974
        leuconychia and sensorineural deafness Knuckle pads: 3
Skin and Connective Tissue Diseases
- Skin Diseases: 13127
  - Keratosis: 706
    - Palmoplantar Keratoderma: 313
      - leuconychia and sensorineural deafness Knuckle pads: 3
  - Genetic Skin Diseases: 47
    - Palmoplantar Keratoderma: 313
      - leuconychia and sensorineural deafness Knuckle pads: 3

Related Diseases

1.	Vohwinkel syndrome
2.	Keratitis
3.	Ichthyosis (Xeroderma)
4.	Deafness (Deaf Mutism)
5.	Palmoplantar Keratoderma with Deafness

Experts

1.	Avshalumova, Lyubov: 1 article (02/2014)
2.	Fabrikant, Jordan: 1 article (02/2014)
3.	Koriakos, Angie: 1 article (02/2014)
4.	Alexandrino, Fabiana: 1 article (07/2005)
5.	Marques-de-Faria, Antonia Paula: 1 article (07/2005)
6.	Sartorato, Edi Lúcia: 1 article (07/2005)
7.	Steiner, Carlos Eduardo: 1 article (07/2005)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to leuconychia and sensorineural deafness Knuckle pads:

1.	Connexin 26IBA 07/30/2005 - "G59S mutation in the GJB2 (connexin 26) gene in a patient with Bart-Pumphrey syndrome." 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. "
2.	ConnexinsIBA 01/01/2023 - "Her clinical features are instead consistent with overlapping phenotypes of gap junction protein beta 2-related connexin disorders: Vohwinkel syndrome and Bart-Pumphrey syndrome. "