DSP

desmoplakin

8 disorders 5 untyped 1 unknown 1 causative 1 no genetic record 6p24.3 gene with protein product

HGNC:3052 Monarch NCBI Gene 1832 ENSG00000096696 UniProt P15924 OMIM 125647

Aliases: KPPS2, PPKS2, DPI, DPII, DP.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
arrhythmogenic right ventricular cardiomyopathy	unknown germline	mechanism: Intercalated-disc adhesion failure; Nuclear plakoglobin and canonical Wnt suppression
Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis	causative de novo	mechanism: DSP Spectrin Repeat 6 Missense Variant subtype: Dominant Carvajal; EKC
Carvajal Syndrome	untyped Pathogenic Variants	mechanism: Biallelic DSP Deficiency — Desmosome-IF Uncoupling
DSP Cardiomyopathy	untyped Pathogenic Variants	mechanism: Desmoplakin Haploinsufficiency — Desmosomal Disruption
Epidermolysis Bullosa Simplex	untyped Causative	mechanism: Desmosomal Plaque Deficiency Causes Suprabasal Acantholysis subtype: LAEB scoped to subtype: LAEB
Skin Fragility-Woolly Hair Syndrome	untyped Pathogenic Variants
Striate Palmoplantar Keratoderma Type 2	untyped Pathogenic Variants
Eosinophilic Esophagitis	no genetic record	mechanism: Esophageal Epithelial Barrier Dysfunction

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
hypertrophic cardiomyopathy MONDO:0005045	AD	Disputed 2022-06-22	Hypertrophic Cardiomyopathy not named
arrhythmogenic cardiomyopathy with wooly hair and keratoderma MONDO:0011581	AD	Definitive 2025-05-30	Carvajal Syndrome untyped

Mechanism modules · computed from kb/

cardiomyopathy_maladaptive_remodeling via DSP Cardiomyopathy
desmosomal_adhesion_failure via Carvajal Syndrome
epithelial_barrier_dysfunction via Eosinophilic Esophagitis

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.