Bart-Pumphrey syndrome
Findings
No curated finding names Bart-Pumphrey syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any diffuse palmoplantar keratoderma caused by a variation in the GJB2 gene, characterized by symmetric or asymmetric knuckle pads (typically located on the distal and interphalangeal joints), leukonychia, diffuse palmoplantar keratoderma, and congenital, mild to moderate sensorineural deafness.
Definition from the Mondo Disease Ontology (MONDO:0007866), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
8 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Hearing impairmentHPOHP:0000365
- 4 of 4 reported patients · Congenital onset
- Palmoplantar keratodermaHPOHP:0000982
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- Congenital sensorineural hearing impairmentHPOHP:0008527
- Very frequent (80% to 99% of cases)
- Knuckle padHPOHP:0032541
- 2 of 4 reported patients
- Very frequent (80% to 99% of cases)
- LeukonychiaHPOHP:0001820
- 3 of 4 reported patients
- Very frequent (80% to 99% of cases)
- Palmoplantar hyperkeratosisHPOHP:0000972
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- GJB2HGNC:4284
- Definitive · G2P · Autosomal dominant · 2017
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020