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Knuckle pads-leuconychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
1 OMIM reference -
1 associated gene
6 signs/symptoms
PROTEIN INTERACTIONS: 1
Heritable pulmonary arterial hypertension
7 associated genes
No signs/symptoms info
Knuckle pads-leuconychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
Heritable pulmonary arterial hypertension

GJB2
(UniProt - OMIM)
 ACVRL1
(UniProt - OMIM)
BMPR2
(UniProt - OMIM)
CAV1
(UniProt - OMIM)
CBLN2
(UniProt - OMIM)
KCNK3
(UniProt - OMIM)
SMAD9
(UniProt - OMIM)
TBX4
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
GJB2
(0.84)
CAV1


Citations in the biomedical literature:


Knuckle pads-leuconychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
GJB2
Heritable pulmonary arterial hypertension
ACVRL1 BMPR2 CAV1 CBLN2 KCNK3 SMAD9
TBX4



Knuckle pads-leuconychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
Heritable pulmonary arterial hypertension

Synonym(s):
- Bart-Pumphrey syndrome
- Knuckle pads-leuconychia-sensorineural deafness-palmoplantar keratoderma syndrome
Synonym(s):
- FPAH
- Familial pulmonary arterial hypertension
- Hereditary pulmonary arterial hypertension
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare otorhinolaryngologic disease
- Rare skin disease
Classification (Orphanet):
- Rare genetic disease
- Rare respiratory disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the circulatory system -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: any age
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
No OMIM references
No MeSH references
Knuckle pads-leuconychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome

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



Heritable pulmonary arterial hypertension

(no data available)