Gene Information
desmoplakin [Source:HGNC Symbol;Acc:HGNC:3052]
DSP variants are associated with 11 diseases including familial isolated arrhythmogenic ventricular dysplasia, left dominant form and cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis and 9 others, with 75 documented clinical phenotypes.
The DSP gene is associated with 11 medical conditions, including:
familial isolated arrhythmogenic ventricular dysplasia, left dominant form
MONDO:0017401
cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
MONDO:0014355
idiopathic pulmonary fibrosis
MONDO:0800504
skin fragility-woolly hair-palmoplantar keratoderma syndrome
MONDO:0011882
familial isolated arrhythmogenic ventricular dysplasia, biventricular form
MONDO:0017402
lethal acantholytic epidermolysis bullosa
MONDO:0012323
striate palmoplantar keratoderma
MONDO:0018865
arrhythmogenic cardiomyopathy with wooly hair and keratoderma
MONDO:0011581
familial isolated arrhythmogenic ventricular dysplasia, right dominant form
MONDO:0017403
familial isolated dilated cardiomyopathy
MONDO:0700335
severe dermatitis-multiple allergies-metabolic wasting syndrome
MONDO:0014218
Research has identified 75 phenotypic features associated with DSP variants:
Acantholysis
HP:0100792
Clubbing of fingers
HP:0100759
Dilated cardiomyopathy
HP:0001644
Alopecia
HP:0001596
Autosomal dominant inheritance
HP:0000006
Palmoplantar keratoderma
HP:0000982
Aplasia cutis congenita
HP:0001057
Alopecia totalis
HP:0007418
Alopecia universalis
HP:0002289
Congestive heart failure
HP:0001635
Tapered distal phalanges of finger
HP:0009884
Neonatal death
HP:0003811
Congestive heart failure
HP:0001635
Clinodactyly of the 5th finger
HP:0004209
Failure to thrive
HP:0001508
ClinVar contains 10 variants associated with DSP. Below are some notable variants:
NM_004415.4(DSP):c.385C>G (p.Arg129Gly)
Uncertain significanceVCV004527708
Review: criteria provided, single submitter
NM_004415.4(DSP):c.7083G>C (p.Lys2361Asn)
Uncertain significanceVCV004527388
Review: criteria provided, single submitter
NM_004415.4(DSP):c.2930A>G (p.Asn977Ser)
Uncertain significanceVCV004527376
Review: criteria provided, single submitter
NM_004415.4(DSP):c.4685C>A (p.Ser1562Tyr)
Uncertain significanceVCV004527278
Review: criteria provided, single submitter
NM_004415.4(DSP):c.1160C>G (p.Ser387Cys)
Uncertain significanceVCV004527160
Review: criteria provided, single submitter
There are 2,301 publications about DSP indexed in PubMed. Below are some recent papers:
Noradrenergic α(2) Receptor Modulates Cav2.2-Mediated Nociception in Parkinson's Disease Through Spinal Neuro-glial Network.
Cui S, He Y, Gu Y
PMID: 41258190
•
2025 Nov 19
•
Mol Neurobiol
Arrhythmogenic cardiomyopathy in children, on the link between injurious mutations and inflammation: Two case reports and review of the literature.
Nikitina E, Kofeynikova O, Zlotina A
PMID: 41255689
•
2025 Dec 9
•
World J Clin Pediatr
Polychromatic Butterfly-Shaped Thiopyrimidine-Derived Schiff Base Probe for Sequentially Detecting Trace In(3+) and Fe(3+) and Application.
Zhou H, Shi M, Li B
PMID: 41243392
•
2025 Nov
•
Luminescence
The landscape of dynamic tumor immunophenotyping on neoadjuvant chemotherapy combined with trastuzumab for the treatment of HER2-positive breast cancer.
Jin H, Yang Y, Yan C
PMID: 41225463
•
2025 Nov 12
•
Mol Cancer
Argo Delphi consensus statement on red flags and clinical gateways towards rare disease diagnosis.
Limongelli G, De Iaco F, Mosca M
PMID: 41219277
•
2025 Nov 11
•
Sci Rep
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Trusted Data Sources
Last updated: 11/20/2025