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DSP

desmoplakin

HCNC Approved Symbol
DSP (HGNC:3052)
Genomic Coordinates
6:7,541,671 - 7,586,714 (6p24.3)
Synonyms
KPPS2, PPKS2, DPI, DPII
Disease Associations
This gene is associated with the following 5 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Arrhythmogenic right ventricular dysplasia 8
607450AD
Cardiomyopathy, dilated, with woolly hair and keratoderma
605676AR
Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis
615821AD
Epidermolysis bullosa, lethal acantholytic
609638AR
Keratosis palmoplantaris striata II
612908AD

Diagnosed Cases

26Patients

In total, 26 patients were diagnosed with a variant in the DSP gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Dilated cardiomyopathy
 6 (23.1%)
Heart failure
 5 (19.2%)
Ectodermal dysplasia
 4 (15.4%)
Hair-nail ectodermal dysplasia
 
3 (11.5%)
Arrhythmias
 
3 (11.5%)