Details of Disease

General Information of Disease (ID: DISRAGDE)

Disease Name Bart-Pumphrey syndrome
Synonyms
knuckle pads, leuconychia and sensorineural deafness; knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome; knuckle pads, leukonychia, and sensorineural deafness; knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome; Bart-Pumphrey syndrome
Disease Hierarchy
DIS6O9JS: Diffuse palmoplantar keratoderma
DISRAGDE: Bart-Pumphrey syndrome
Disease Identifiers
MONDO ID
MONDO_0007866
MESH ID
C537210
UMLS CUI
C0266004
OMIM ID
149200
MedGen ID
82727
Orphanet ID
2698
SNOMED CT ID
1271009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
GJB2 TTRGZX3 Limited Biomarker [1]
GJB2 TTRGZX3 Definitive Autosomal dominant [2]
------------------------------------------------------------------------------------
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GJB2 OTBKLEYB Definitive Autosomal dominant [2]
------------------------------------------------------------------------------------

References

1 Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.Genet Med. 2019 Nov;21(11):2442-2452. doi: 10.1038/s41436-019-0535-9. Epub 2019 Jun 4.
2 G59S mutation in the GJB2 (connexin 26) gene in a patient with Bart-Pumphrey syndrome. Am J Med Genet A. 2005 Jul 30;136(3):282-4. doi: 10.1002/ajmg.a.30822.