Cytoscape Web
Click node...

Knuckle pads-leuconychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
1 OMIM reference -
1 associated gene
14 connected diseases
6 signs/symptoms
Disease Type of connection
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
KID syndrome
Hypotrichosis-deafness syndrome
Keratoderma hereditarium mutilans
Palmoplantar keratoderma-deafness syndrome
Porokeratotic eccrine ostial and dermal duct nevus
Berardinelli-Seip congenital lipodystrophy
Diffuse cutaneous systemic sclerosis
Heritable pulmonary arterial hypertension
Limited cutaneous systemic sclerosis
X-linked Charcot-Marie-Tooth disease type 1
X-linked progressive cerebellar ataxia
Hidrotic ectodermal dysplasia
Synonym(s):
- Bart-Pumphrey syndrome
- Knuckle pads-leuconychia-sensorineural deafness-palmoplantar keratoderma syndrome
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare otorhinolaryngologic disease
- Rare skin disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
GJB2 P29033121011
Very frequent
- Abnormal nails colour / leukonychia / melanonychia
- Autosomal dominant inheritance
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Sensorineural deafness / hearing loss
- Subcutaneous nodules / lipomas / tumefaction / swelling

Frequent
- Palmoplantar hyperkeratosis / keratoderma