Knuckle pads-leuconychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: bart-pumphrey syndrome
Knuckle pads-leuconychia-sensorineural deafness-palmoplantar keratoderma syndrome
Number of Symptoms 9
OrphanetNr: 2698
OMIM Id: 149200
ICD-10: Q82.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature
 -Rare genetic disease
 -Rare skin disease
Syndromic genetic deafness
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000365) Hearing impairment 539 / 7739
2
 (HPO:0000407) Sensorineural hearing impairment Very frequent [Orphanet] 524 / 7739
3
 (HPO:0000962) Hyperkeratosis Very frequent [Orphanet] 216 / 7739
4
 (HPO:0001031) Subcutaneous lipoma Very frequent [Orphanet] 112 / 7739
5
 (HPO:0001820) Leukonychia Very frequent [Orphanet] 18 / 7739
6
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
7
 (MedDRA:10070650) Knuckle pads 2 / 7739
8
 (OMIM) Keratosis palmaris et plantaris 1 / 7739
9
 (OMIM) Cochlear deafness 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Bart and Pumphrey (1967) described a kindred in which many members had knuckle pads, leukonychia, and deafness due to a lesion of the cochlea. Keratosis palmaris et plantaris was present in some. Male-to-male transmission was thought to have ...
Molecular genetics OMIM In a multigeneration Polish family with Bart-Pumphrey syndrome, Richard et al. (2004) reported a novel nonconservative missense GJB2 mutation (121011.0030) segregating with the disorder. This mutation, not detected in 110 control individuals of northern European ancestry, lies within ...