DSP - desmoplakin Gene

Also Known as DP; DCWHKTA

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 1832

About DSP

Cytogenetic location: 6p24.3 Genomic coordinates (GRCh38): 6:7,541,671-7,586,714 (from NCBI)

This gene has 7 transcripts (splice variants), 279 orthologues, 36 paralogues and is associated with 21 phenotypes. Biased expression in skin (RPKM 438.1), esophagus (RPKM 191.0) and 7 other tissues.

Summary

This gene encodes a protein that anchors intermediate filaments to desmosomal plaques and forms an obligate component of functional desmosomes. Mutations in this gene are the cause of several cardiomyopathies and keratodermas, including skin fragility-woolly hair syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

DSP Products (4)

mRNA Protein Name
NM_001008844.3 NP_001008844.1 desmoplakin isoform II
NM_001319034.2 NP_001305963.1 desmoplakin isoform Ia
NM_001406591.1 NP_001393520.1 desmoplakin isoform 4
NM_004415.4 NP_004406.2 desmoplakin isoform I
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
10852826 GOA
enables protein kinase C binding IPI
IPI: Inferred from physical interaction
18474624 GOA
enables scaffold protein binding IPI
IPI: Inferred from physical interaction
10852826 GOA
Biological Process GO Annotation Evidence References Source
involved in bundle of His cell-Purkinje myocyte adhesion involved in cell communication IMP
IMP: Inferred from mutant phenotype
12373648 GOA
acts upstream of or within epithelial cell-cell adhesion IMP
IMP: Inferred from mutant phenotype
27892606 GOA
involved in regulation of heart rate by cardiac conduction IMP
IMP: Inferred from mutant phenotype
12373648 GOA
involved in regulation of ventricular cardiac muscle cell action potential IMP
IMP: Inferred from mutant phenotype
12373648 GOA
Cellular Component GO Annotation Evidence References Source
located in desmosome IDA
IDA: Inferred from direct assay
20859650 GOA
located in intercalated disc IDA
IDA: Inferred from direct assay
22781308 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
11790773 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DSP Protein Structure

Plectin

Plectin: Plectin repeat (2048 - 2089)

Plectin

Plectin: Plectin repeat (2122 - 2165)

Plectin

Plectin: Plectin repeat (2253 - 2294)

Plectin

Plectin: Plectin repeat (2289 - 2333)

Plectin

Plectin: Plectin repeat (2365 - 2409)

Plectin

Plectin: Plectin repeat (2460 - 2500)

Plectin

Plectin: Plectin repeat (2648 - 2692)

Plectin

Plectin: Plectin repeat (2724 - 2767)

  • 0
  • 500
  • 1000
  • 1500
  • 2000
  • 2500
  • 2871 a.a.
Protein Preferred Names Protein Names

desmoplakin

  • 250/210 kDa paraneoplastic pemphigus antigen

DSP Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
DSP P15924 MAPRE1 Homo sapiens Q15691
PLA
25225338
Intra
DSP P15924 MAPRE1 Homo sapiens Q15691
IF
25225338
Intra
DSP P15924 FES Homo sapiens P07332 25852190
Intra
DSP P15924 PKP1 Homo sapiens Q13835-2 10852826
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant DSP Proteins

Cat. No. Product Name Accession Purity
HY-P72176 DSP Protein, Human (His-SUMO) P15924 (C78-D300) ≥ 90%, as determined by reducing SDS-PAGE.

DSP Antibodies

Cat. No. Product Name Application Reactivity
HY-P82634 Desmoplakin Antibody (YA2379) WB, ICC/IF, FC Human, Rat
HY-P82634A Desmoplakin Antibody (YA2379)(PBS only) WB, ICC/IF, FC Human, Rat

Related Diseases

Diseases Alias
Skin Fragility-Woolly Hair Syndrome
  • Skin Fragility-Woolly Hair-Palmoplantar Keratoderma Syndrome

  • SFWHS

  • Skin Fragility Woolly Hair Syndrome

  • Skin Fragility-Woolly Hair-Palmoplantar Hyperkeratosis Syndrome

  • Skin Fragility, Woolly Hair Syndrome

Epidermolysis Bullosa, Lethal Acantholytic
  • Lethal Acantholytic Epidermolysis Bullosa

  • EBLA

  • Laeb

  • Lethal Acantholytic Erosive Disorder

Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
  • Arrhythmogenic Right Ventricular Dysplasia 8

  • ARVD8

  • Arrhythmogenic Right Ventricular Cardiomyopathy 8

  • Arvc8

  • Familial Arrhythmogenic Right Ventricular Dysplasia 8

  • Dysplasia, Ventricular, Right, Arrhythmogenic, Type 8

Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
  • DCWHKTA

  • Dilated Cardiomyopathy With Woolly Hair, Keratoderma, And Tooth Agenesis

  • Cardiomyopathy, Dilated With Woolly Hair, Keratoderma, And Tooth Agenesis

Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
  • Carvajal Syndrome

  • Palmoplantar Keratoderma With Left Ventricular Cardiomyopathy And Woolly Hair

  • DCWHK

  • Dilated Cardiomyopathy With Woolly Hair And Keratoderma

  • Cardiomyopathy Dilated With Woolly Hair And Keratoderma

  • Kwwh Type Ii

  • Keratoderma With Woolly Hair Type Ii

  • Woolly Hair-Palmoplantar Hyperkeratosis-Dilated Cardiomyopathy Syndrome

  • Woolly Hair-Palmoplantar Keratoderma-Dilated Cardiomyopathy Syndrome

  • Wooly Hair-Palmoplantar Hyperkeratosis-Dilated Cardiomyopathy Syndrome

  • Wooly Hair-Palmoplantar Keratoderma-Dilated Cardiomyopathy Syndrome

  • Epidermolytic Palmoplantar Keratoderma Woolly Hair And Dilated Cardiomyopathy

  • Wooly Hair - Palmoplantar Keratoderma - Dilated Cardiomyopathy

  • Cardiomyopathy, Dilated With Woolly Hair And Keratoderma

Keratosis Palmoplantaris Striata Ii
  • Keratosis Palmoplantaris Striata 2

  • PPKS2

  • Kpps2

  • Striate Palmoplantar Keratoderma Ii

  • SPPK2

  • Keratoderma, Palmoplantar, Striate Form Ii

  • Keratoderma, Palmoplantar, Striate 2

  • Keratoderma Palmoplantar Striate Form Ii

  • Keratosis Palmoplantaris Striata, Type 2

Familial Isolated Arrhythmogenic Right Ventricular Dysplasia
  • Familial Isolated Arvc

  • Familial Isolated Arvd

  • Familial Isolated Arrhythmogenic Right Ventricular Cardiomyopathy

  • Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy

  • Familial Isolated Arrhythmogenic Ventricular Dysplasia

Arrhythmogenic Right Ventricular Cardiomyopathy
  • Arrhythmogenic Right Ventricular Dysplasia

  • Arvc

  • Arvd

  • Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

  • Arvc Cardiomyopathy

  • Arrhythmogenic Right Ventricular Cardiomyopathy-Dysplasia

  • Arvd/C

  • Right Ventricular Dysplasia, Arrhythmogenic

  • Ventricular Dysplasia, Right, Arrhythmogenic

  • Cardiomyopathy, Ventricular, Right, Arrhythmogenic

  • Dysplasia, Arrhythmogenic Right Ventricular

Erythrokeratodermia-Cardiomyopathy Syndrome
  • Ekc Syndrome

Cardiomyopathy, Dilated, 1a
  • Dilated Cardiomyopathy 1a

  • Cdcd1

  • CMD1A

  • Cardiomyopathy, Familial Idiopathic

  • Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation

  • Cardiomyopathy, Dilated, With Conduction Defect 1

  • Cardiomyopathy, Idiopathic Dilated

  • Cardiomyopathy, Congestive

  • Dilated Cardiomyopathy With Conduction Defect 1

  • Cardiomyopathy Dilated With Conduction Defect Type 1

  • Cardiomyopathy, Dilated 1a

  • Cardiomyopathy Dilated With Conduction Defect 1

  • Cardiomyopathy, Dilated, Type 1a

Striate Palmoplantar Keratoderma
  • Keratosis Palmoplantaris Striata

  • Keratosis Palmoplantaris Striata Et Areata

  • Keratosis Palmoplantaris Varians Of Wachters

Cardiomyopathy, Dilated, 1h
  • Dilated Cardiomyopathy 1h

  • Dilated Cardiomyopathy With Conduction Defect

  • CMD1H

  • Cardiomyopathy, Dilated, With Conduction Defect

Heart Conduction Disease
  • Conduction Disorder Of The Heart

  • Heart Rhythm Disease

Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
  • Sam Syndrome

  • Severe Dermatitis-Multiple Allergies-Metabolic Wasting Syndrome

  • EPKHE

  • Severe Dermatitis, Multiple Allergies, And Metabolic Wasting Syndrome

  • Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper Ige

  • Congenital Erythroderma-Hypotrichosis-Recurrent Infections-Multiple Food Allergies Syndrome

Cardiac Conduction Defect
  • Sudden Cardiac Death

  • Cardiac Conduction Defect, Susceptibility To

  • SCD

  • Cardiac Conduction Abnormality

  • Death Sudden Cardiac

  • Cardiac Conduction Disease

  • Conduction Disorder Of The Heart

Aortic Valve Disease 1
  • Aortic Valve Disease

  • Bicuspid Aortic Valve

  • Aortic Valve Disorder

  • AOVD1

  • Bav

  • Bicuspid Aortic Valve Disease

  • Familial Bicuspid Aortic Valve

  • Aortic Valve Calcification

  • Aovd

  • Aortic Valve, Bicuspid

  • Aortic Valve, Calcification Of

  • Aortic Stenosis, Calcific

  • Familial Bav

  • Calcific Aortic Stenosis

  • Calcification Of Aortic Valve

  • Abnormality Of The Aortic Valve

  • Aortic Valve Disease, Type 1

  • Aortic Valve Disease 2

  • Bicommissural Aortic Valve

Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form
  • Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Biventricular Form

Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form
  • Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Left Dominant Form

Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form
  • Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Classic Form

  • Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Right Dominant Form

  • Familial Isolated Arrhythmogenic Ventricular Dysplasia, Classic Form

Long Qt Syndrome 1
  • Romano-Ward Syndrome

  • LQT1

  • Ward-Romano Syndrome

  • Rws

  • Ventricular Fibrillation With Prolonged Qt Interval

  • Wrs

  • Long Qt Syndrome 1, Acquired, Susceptibility To

  • Long Qt Syndrome 1, Acquired

  • Romano-Ward Long Qt Syndrome

  • Long Qt Syndrome Type 1

  • Long Qt Syndrome-1

  • Acquired Susceptibility To Long Qt Syndrome 1

  • Qt Syndrome, Long, Type 1

Dilated Cardiomyopathy
  • Familial Dilated Cardiomyopathy

  • Primary Dilated Cardiomyopathy

  • Idiopathic Dilated Cardiomyopathy

  • Congestive Cardiomyopathy

  • Idiopathic Dilation Cardiomyopathy

  • Primary Familial Dilated Cardiomyopathy

  • Cardiomyopathy, Dilated

  • DCM

  • Cardiomyopathy, Familial Dilated

  • Dilated Cardiomyopathy, Familial

  • Hypokinetic Dilated Cardiomyopathy, Familial

  • Familial Idiopathic Cardiomyopathy

  • Fdc

  • Cardiomyopathy, Familial Idiopathic

  • Idiopathic Cardiomegaly

  • Dilated Congestive Cardiomyopathy

  • Chronic Dilated Cardiomyopathy

  • Ccm - [Congestive Cardiomyopathy]

  • Cocm - [Congestive Cardiomyopathy]

  • Dcm - [Dilated Cardiomyopathy]

  • Dilated-Hypokinetic Cardiomyopathy

  • Congestive Idiopathic Cardiomyopathy

  • Primary Idiopathic Dilated Cardiomyopathy

Familial Isolated Dilated Cardiomyopathy
  • Familial Or Idiopathic Dilated Cardiomyopathy

Myocarditis
  • Myocardial Inflammation

  • Inflammatory Cardiomyopathy

Erythema Multiforme
  • Dermatostomatitis, Erythema Multiforme Type

  • Em

  • Erythema Multiforme Bullosum

  • Erythema Polymorphe, Erythema Multiforme Type

  • Febrile Mucocutaneous Syndrome

  • Herpes Iris, Erythema Multiforme Type

  • Stevens-Johnson Syndrome

  • Em - [Erythema Multiforme]

Cardiac Arrest
  • Cardiopulmonary Arrest

  • Circulatory Arrest

  • Heart Arrest

Pemphigus
Progressive Familial Heart Block, Type Ia
  • PFHB1A

  • Bundle Branch Block

  • Heart Block, Nonprogressive

  • Lenegre-Lev Disease

  • Hereditary Bundle Branch System Defect

  • Progressive Familial Heart Block Type Ia

  • Pfhbia

  • Pccd

  • Hbbd

  • Progressive Familial Heart Block, Type 1a

  • Heart Block, Progressive Familial, Type I

  • Pfhbi

  • Cardiac Conduction Defect, Progressive

  • Heart Block, Progressive, Type Ia

  • Progressive Familial Heart Block Type 1a

  • Familial Progressive Cardiac Conduction Defect

  • Heart Block Progressive Familial Type 1

  • Familial Lenègre Disease

  • Familial Lev Disease

  • Familial Lev-Lenègre Disease

  • Familial Pccd

  • Familial Progressive Heart Block

  • Hereditary Bundle Branch Defect

  • Progressive Familial Heart Block

  • Progressive Familial Heart Block 1a

  • Cardiac Conduction Defect

  • Progressive Cardiac Conduction Defect

  • Progressive Familial Heart Block Type I

  • Heart Block, Progressive, Familial, Type 1a

  • Bundle-Branch Block

  • Conduction Disorder Of The Heart

Naxos Disease
  • Mal De Naxos

  • NXD

  • Cardiomyopathy, Arrhythmogenic Right Ventricular, With Skin, Hair, And Nail Abnormalities

  • Woolly Hair, Palmoplantar Keratoderma, And Cardiac Abnormalities

  • Palmoplantar Keratoderma With Arrhythmogenic Right Ventricular Cardiomyopathy And Woolly Hair

  • Keratosis Palmoplantaris With Arrythmogenic Cardiomyopathy

  • Keratosis Palmoplantaris With Arrhythmogenic Cardiomyopathy

  • Keratosis Palmoplantaris Arrythmogenic Cardiomyopathy Woolly Hair

  • Woolly Hair Palmoplantar Keratoderma Cardiac Abnormalities

  • Kwwh Type I

  • Keratoderma With Woolly Hair Type I

  • Palmoplantar Hyperkeratosis With Arrythmogenic Cardiomyopathy

  • Palmoplantar Keratoderma With Arrythmogenic Cardiomyopathy

Paraneoplastic Pemphigus
Pemphigus Erythematosus
  • Seborrheic Pemphigus

  • Senear-Usher Syndrome

Progressive Familial Heart Block
  • Hereditary Bundle Branch Defect

  • Hereditary Bundle Branch System Defect

  • Familial Lenegre Disease

  • Familial Lev Disease

  • Familial Lev-Lenegre Disease

  • Familial Pccd

  • Familial Progressive Heart Block

  • Pfhb

  • Bundle Branch Block

  • Hbbd

  • Lenegre Lev Disease

  • Lev Syndrome

  • Lev'S Disease

  • Lev-Lenègre Disease

  • Pccd

  • Progressive Cardiac Conduction Defect

  • Bundle-Branch Block

Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
  • Arrhythmogenic Right Ventricular Dysplasia 9

  • ARVD9

  • Arrhythmogenic Right Ventricular Cardiomyopathy 9

  • Arvc9

  • Familial Arrhythmogenic Right Ventricular Dysplasia 9

  • Dysplasia, Arrhythmogenic Right Ventricular, Type 9

Perineurioma
  • Soft Tissue Perineurioma

Pemphigus Vulgaris, Familial
  • Pemphigus Vulgaris

  • Familial Pemphigus Vulgaris

  • Pemphigus

Bullous Pemphigoid
  • Benign Pemphigus

  • Senile Dermatitis Herpetiformis

  • Old Age Pemphigus

  • Parapemphigus

  • Pemphigoid

  • Pemphigoid Bullous

  • Pemphigoid, Bullous

Darier-White Disease
  • Keratosis Follicularis

  • Darier Disease

  • Darier'S Disease

  • DAR

  • DD

  • Darier White Disease

  • Darier Disease Acral Hemorrhagic Type

  • Darier Disease Segmental

  • Darier Disease, Acral Hemorrhagic Type

  • Darier Disease, Segmental

Benign Chronic Pemphigus
  • Hailey-Hailey Disease

  • Pemphigus, Benign Familial

  • Familial Benign Pemphigus

  • Benign Familial Pemphigus

  • Familial Benign Chronic Pemphigus

  • BCPM

  • HHD

  • Benign Chronic Familial Pemphigus Of Hailey-Hailey

  • Pemphigus, Chronic, Benign

Epidermolysis Bullosa
  • Acantholysis Bullosa

  • Eb

Hair Disease
  • Hair Diseases

  • Hair Anomaly

  • Hair Disorder

  • Hair Problems

Interstitial Lung Disease 2
  • Idiopathic Pulmonary Fibrosis

  • Ipf

  • Fibrocystic Pulmonary Dysplasia

  • Pulmonary Fibrosis, Idiopathic

  • Pulmonary Fibrosis, Idiopathic, Susceptibility To

  • Cryptogenic Fibrosing Alveolitis

  • ILD2

  • Idiopathic Pulmonary Fibrosis, Familial

  • Fibrosing Alveolitis, Cryptogenic

  • Uip

  • Fibrosing Alveolitis

  • Interstitial Pneumonitis, Usual

  • Familial Idiopathic Pulmonary Fibrosis

  • Idiopathic Fibrosing Alveolitis, Chronic Form

  • Usual Interstitial Pneumonia

  • Fibrosing Alveolitis Cryptogenic

  • Hamman-Rich Disease

  • Idiopathic Pulmonary Fibrosis Familial

  • Interstitial Pneumonitis Usual

  • Fibrosis Idiopathic Pulmonary

  • Fibrosis, Pulmonary, Idiopathic

  • Hamman-Rich Syndrome

  • Chronic Idiopathic Pulmonary Fibrosis

  • Acute Interstitial Pneumonia

  • Interstitial Pulmonary Fibrosis

  • Ipf - [Idiopathic Pulmonary Fibrosis]

  • Idiopathic Lung Fibrosis

  • Fibrosing Lung Disease

  • Pulmonary Fibrosis Nos

  • Fibrosing Pneumonitis

Palmoplantar Keratosis
  • Palmoplantar Keratoderma

  • Keratosis Palmaris Et Plantaris

  • Palmo-Plantar Keratodermas

  • Keratoderma, Palmoplantar

  • Keratoderma Palmoplantar

  • Keratoderma, Palmoplantar, Diffuse

  • Hyperkeratosis Of Palms And Soles

  • Palmoplantar Hyperkeratosis

Cardiomyopathy, Dilated, 1b
  • Cardiomyopathy, Familial Dilated, 1

  • Cardiomyopathy, Dilated 1b

  • CMD1B

  • Cmpd1

  • Cardiomyopathy, Familial Dilated

  • Fdc

  • Dilated Cardiomyopathy 1b

  • Familial Dilated Cardiomyopathy

Alopecia
Long Qt Syndrome
  • Romano-Ward Syndrome

  • Long Q-T Syndrome

  • Lqt

  • Qt Syndrome, Long

  • Congenital Long Qt Syndrome

  • Familial Long Qt Syndrome

Pemphigus Foliaceus
  • Pemphigus Foliaceous

  • Pf

  • Superficial Pemphigus

Epithelioid Neurofibroma
Pemphigoid
Diffuse Palmoplantar Keratoderma
  • Diffuse Palmoplantar Hyperkeratosis

  • Diffuse Ppk

  • Diffuse Keratosis Palmoplantaris

Palmoplantar Keratoderma, Nonepidermolytic
  • Nonepidermolytic Palmoplantar Keratoderma

  • NEPPK

  • Tylosis

  • Unna-Thost Syndrome

  • Keratoderma, Palmoplantar, Diffuse

  • Ppkne

  • Keratoderma, Nonepidermolytic Palmoplantar

  • Diffuse Nonepidermolytic Palmomplantar Keratoderma

  • Thost-Unna Syndrome

  • Non-Epidermolytic Palmoplantar Keratoderma

  • Autosomal Dominant Diffuse Palmoplantar Keratoderma, Norrbotten Type

  • Diffuse Palmoplantar Keratoderma, Bothnian Type

  • Krt1-Related Diffuse Nonepidermolytic Keratoderma

  • Krt1-Related Diffuse Neppk

  • Keratoderma, Palmoplantar, Non-Epidermolytic

  • Nonepidermolytic Unna-Thost Disease

  • Non-Epidermolytic Unna-Thost Disease

  • Keratoderma, Palmoplantar, Nonepidermolytic

  • Hyperkeratosis

Familial Woolly Hair Syndrome
  • Wooly Hair

  • Familial Wooly Hair Syndrome

  • Hereditary Woolly Hair Syndrome

  • Hereditary Wooly Hair Syndrome

  • Woolly Hair

  • Syndrome With Woolly Hair

  • Wooly Hair Syndrome

Thymoma
  • Primary Thymic Epithelial Neoplasm

  • Primary Thymic Epithelial Tumor

  • Thymus Neoplasms

Heart Disease
  • Heart Failure

  • Congenital Heart Disease

  • Heart Diseases

  • Congenital Heart Defects

  • Congenital Heart Defect

  • Heart Malformation

  • Congenital Anomaly Of Heart

  • Heart Defect

  • Heart-Congenital Defect

  • Congenital Heart Disorder

  • Heart Defects Congenital

  • Heart Defects, Congenital

  • Heart Defects

  • Heart Disease, Congenital

  • Disease, Heart, Congenital

  • Congestive Heart Failure

Microscopic Polyangiitis
  • Microscopic Polyarteritis

  • Mpa

  • Micropolyangiitis

Cardiac Sarcoidosis
Tooth Agenesis
  • Oligodontia

  • Hypodontia

  • Selective Tooth Agenesis

  • Tooth Agenesis, Selective

  • Familial Tooth Agenesis

  • Anodontia

  • Congenital Absence Of One Tooth

Atrial Standstill 1
  • ATRST1

  • Atrial Cardiomyopathy With Heart Block

  • Cardiomyopathy, Familial, With Conduction Disturbance

  • Atrial Standstill, Digenic

  • Familial Cardiomyopathy With Conduction Disturbance

  • Standstill, Atrial, Type 1

  • Heart Block

  • Cardiomyopathies

  • Idiopathic Cardiomyopathy

  • Idiopathic Cardiopathy

  • Primary Myocardial Disease

  • Primary Cardiomyopathy

  • Myocardiopathy

  • Myocardosis

  • Primary Idiopathic Myocardial Disease

Iga Pemphigus
Ectodermal Dysplasia
  • Congenital Ectodermal Defect

  • Congenital Ectodermal Dysplasia

  • Ectodermal Dysplasia Syndrome

  • Dysplasia, Ectodermal

Bullous Skin Disease
  • Skin Diseases Bullous

  • Skin Diseases, Bullous

Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
  • Arrhythmogenic Right Ventricular Dysplasia 12

  • ARVD12

  • Arrhythmogenic Right Ventricular Cardiomyopathy 12

  • Arvc12

  • Familial Arrhythmogenic Right Ventricular Dysplasia 12

  • Dysplasia, Ventricular, Right, Arrhythmogenic, Type 12

Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
  • Arrhythmogenic Right Ventricular Dysplasia 6

  • ARVD6

  • Arrhythmogenic Right Ventricular Cardiomyopathy 6

  • Arvc6

  • Familial Arrhythmogenic Right Ventricular Dysplasia 6

  • Arrhythmogenic Right Ventricular Dysplasia-6

Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
  • Arrhythmogenic Right Ventricular Dysplasia 5

  • ARVD5

  • Arrhythmogenic Right Ventricular Cardiomyopathy 5

  • Arvc5

  • Familial Arrhythmogenic Right Ventricular Dysplasia 5

  • Dysplasia, Ventricular, Right, Arrhythmogenic, Type 5

Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
  • Arrhythmogenic Right Ventricular Dysplasia 1

  • Uhl Anomaly

  • Arrhythmogenic Right Ventricular Cardiomyopathy 1

  • Arvc1

  • ARVD1

  • Cardiomyopathy Right Ventricular Dilated

  • Dysplasia, Arrhythmogenic Right Ventricular, Type 1

Left Bundle Branch Hemiblock
  • Left Bundle Branch Block

  • Left Bundle-Branch Block

Epidermolytic Hyperkeratosis
  • Bullous Congenital Ichthyosiform Erythroderma

  • Bullous Ichthyosiform Erythroderma

  • EHK

  • Bullous Erythroderma Ichthyosiformis Congenita Of Brocq

  • Bcie

  • Bie

  • Epidermolytic Ichthyosis

  • Ichthyosis Bullosa Of Siemens

  • Superficial Epidermolytic Ichthyosis

  • Hyperkeratosis, Epidermolytic

  • Congenital Bullous Ichthyosiform Erythroderma

  • Bullous Type Ichthyosis

  • Epidermolytic Palmoplantar Hyperkeratosis

  • Bullous Ichthyosiform Erythroderma Congenita

  • Bullous Erythroderma Ichthyosiforme

  • Sei

  • Epidermolytic Hyperkeratosis Late-Onset

  • Epidermolytic Hyperkeratosis, Late-Onset

Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
  • Arrhythmogenic Right Ventricular Dysplasia 2

  • ARVD2

  • Arrhythmogenic Right Ventricular Cardiomyopathy 2

  • Arvc2

  • Familial Arrhythmogenic Right Ventricular Dysplasia 2

  • Dysplasia, Arrhythmogenic Right Ventricular, Type 2

Epidermolysis Bullosa Simplex 2f, With Mottled Pigmentation
  • Epidermolysis Bullosa Simplex With Mottled Pigmentation

  • Ebsmp

  • Speckled Hyperpigmentation With Punctate Palmoplantar Keratoses And Childhood Blistering

  • Ebs-Mp

  • EBS2F

  • Ebs With Mottled Pigmentation

  • Epidermolysis Bullosa Simplex-Mp

  • Speckled Hyperpigmentation, Palmo-Plantar Punctate Keratoses And Childhood Blistering

  • Epidermolysis Bullosa Simplex, With Mottled Pigmentation

Punctate Palmoplantar Keratoderma
  • Punctate Palmoplantar Hyperkeratosis

  • Punctate Keratosis Palmoplantaris

  • Punctate Ppk

Palmoplantar Keratoderma, Epidermolytic
  • Epidermolytic Palmoplantar Keratoderma

  • EPPK

  • Keratosis Palmaris Et Plantaris Familiaris

  • Tylosis

  • Keratosis Of Greither

  • Diffuse Nonepidermolytic Palmoplantar Keratoderma

  • Keratoderma, Palmoplantar, Epidermolytic

  • Unna-Thost Palmoplantar Keratoderma

  • Epidermolytic Palmoplantar Keratoderma Of Voerner

  • Ppke

  • Keratoderma, Epidermolytic Palmoplantar

  • Palmoplantar Keratoderma, Vorner Type

  • Hyperkeratosis, Localized Epidermolytic

  • Diffuse Erythrodermic Palmoplantar Keratoderma, Vörner Type

  • Epidermolytic Palmoplantar Keratoderma Of Vörner

  • Hyperkeratosis Palmoplantar Localized Epidermolytic

  • Diffuse Neppk

  • Ppk Diffusa Circumscripta

  • Thost-Unna Disease

  • Thost-Unna Palmoplantar Keratoderma

  • Diffuse Erythrodermic Palmoplantar Keratoderma, Voerner Type

  • Diffuse Erythrodermic Palmoplantar Keratoderma, Vorner Type

  • Epidermolytic Palmoplantar Keratoderma Of Vorner

  • Ehppk

  • Epidermolytic Unna-Thost Disease

  • Localized Epidermolytic Hyperkeratosis

  • Palmoplantar Keratoderma Vorner Type

  • Unilateral Palmoplantar Verrucous Nevus

  • UPVN

  • Keratoderma, Palmoplantar, Diffuse

  • Hyperkeratosis

  • Palmoplantar Keratoderma, Nonepidermolytic

  • Epidermolytic Palmoplantar Keratoderma Vorner Type

  • Type B Tylosis

  • Hyperkeratosis Of The Palms And Soles And Esophageal Papillomas

  • Type A Tylosis

Skin Disease
  • Skin Diseases

  • Genodermatosis

  • Abnormality Of The Skin

  • Skin Diseases, Genetic

  • Skin And Subcutaneous Tissue Disease

  • Dermatologic Disorders

Subcorneal Pustular Dermatosis
  • Subcorneal Pustular Dermatitis

  • Sneddon-Wilkinson Disease Or Syndrome

  • Pustulosis Subcornealis

  • Sneddon-Wilkinson Disease

  • Skin Diseases, Vesiculobullous

  • Vesiculobullous Skin Disease

Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
  • Arrhythmogenic Right Ventricular Dysplasia 11

  • ARVD11

  • Arrhythmogenic Right Ventricular Cardiomyopathy 11

  • Arvc11

  • Arrhythmogenic Right Ventricular Dysplasia 11 With Mild Palmoplantar Keratoderma And Woolly Hair

  • Arrhythmogenic Right Ventricular Dysplasia, Familial, 11, With Mild Palmoplantar Keratoderma And Woolly Hair

  • Familial Arrhythmogenic Right Ventricular Dysplasia 11

  • Arrhythmogenic Right Ventricular Dysplasia 11, Familial, And Mild Palmoplantar Keratoderma And Woolly Hair

  • ARVD11PK

  • Arvd And Mild Palmoplantar Keratoderma With Or Without Woolly Hair

  • Dysplasia, Ventricular, Right, Arrhythmogenic, Type 11

Right Bundle Branch Block
  • Right Bundle Branch Block With Left Posterior Fascicular Block

Hypertrophic Cardiomyopathy
  • Hypertrophic Obstructive Cardiomyopathy

  • Cardiomyopathy, Hypertrophic

  • Cardiomyopathy Hypertrophic Obstructive

  • Cardiomyopathy, Hypertrophic, Familial

  • Idiopathic Myocardial Hypertrophy

  • Idiopathic Hypertrophic Cardiomyopathy

  • Obstructive Idiopathic Hypertrophic Cardiomyopathy

  • Obstructive Cardiomyopathy

  • Idiopathic Hypertrophic Subaortic Stenosis

  • Muscular Subaortic Stenosis

  • Hypertrophic Obstructive Subaortic Stenosis

Meningioma, Familial
  • Meningioma

  • Familial Meningioma

  • Meningioma, Familial, Susceptibility To

  • Meningeal Neoplasm

  • Meningeal Neoplasms

  • Meningiomas

  • Meningioma, Nf2-Related, Somatic

  • Meningioma, Sis-Related

  • Meningothelial Cell Tumor

  • Neoplasm Of The Meninges

  • Primary Meningeal Tumor

  • Familial Multiple Meningioma

  • MNGMA

  • Meningioma, Benign, No Icd-O Subtype

  • Intracranial Meningioma

  • Meningothelial Cell Neoplasm

  • Supratentorial Meningioma

  • Primary Neoplasm Of Spinal Meninges

  • Benign Intracranial Meningioma

  • Benign Meningioma

  • Meningeal Tumours

  • Meningeal Sarcoma Of Unspecified Site

  • Meningothelial Sarcoma Of Unspecified Site

Intrinsic Cardiomyopathy
Acute Myocarditis
Epidermolysis Bullosa Simplex
  • Ebs

  • Epidermolysis Bullosa Intraepidermic

  • Epidermolytic Epidermolysis Bullosa

Colorectal Cancer
  • Colon Cancer

  • Colorectal Carcinoma

  • Colon Carcinoma

  • Colorectal Cancer, Susceptibility To

  • Carcinoma Of Colon

  • CRC

  • Colorectal Cancer With Chromosomal Instability, Somatic

  • Colon Cancer, Somatic

  • Colon Cancer, Susceptibility To

  • Colonic Neoplasms

  • Colorectal Neoplasms

  • Colorectal Cancer, Somatic

  • Colon Cancer, Advanced, Somatic

  • Colonic Carcinoma

  • Colorectal Carcinomas

  • Colon Cancers

  • Colorectal Cancers

  • Cancer, Colorectal, Somatic

  • Cancer, Colon

  • Cancer, Colorectal, Susceptibility To

  • Colorectal Neoplasm

  • Colonic Neoplasm

  • Malignant Tumor Of Colon

Supine Hypotensive Syndrome
  • Maternal Hypotension Syndrome

  • Antepartum Maternal Hypotension Syndrome

  • Postpartum Maternal Hypotension Syndrome

  • Maternal Hypotension Syndrome, Antepartum Condition Or Complication

  • Maternal Hypotension Syndrome, Postpartum Condition Or Complication

  • Maternal Hypotension Syndrome, Unspecified Trimester

Pachyonychia Congenita 1
  • Pachyonychia Congenita

  • Jadassohn-Lewandowsky Syndrome

  • Pachyonychia Congenita Syndrome

  • PC1

  • Pachyonychia Congenita, Jadassohn-Lewandowsky Type

  • Congenital Pachyonychia

  • Pachyonychia Congenita, Type 1

  • Pachyonychia Congenita, Jadassohn-Lewandowsky Type, Formerly

  • Jadassohn-Lewandowsky Syndrome, Formerly

  • Jackson-Lawler Type Pachyonychia Congenita

  • Pachyonychia Congenita Type 1

  • Jackson-Lawler Syndrome

  • Jadassohn-Lewandowski Syndrome

  • Pc

  • Pachyonychia Congenita Jackson-Lawler Type

  • Pachyonychia Congenita Jadassohn-Lewandowsky Type

  • Pachyonychia Congenita Jackson Lawler Type

  • Pc-1

  • Pachyonychia Congenita, Jadassohn Lewandowsky Type

  • Pachyonychia Congenita, Type 2

Restrictive Cardiomyopathy
  • Familial Restrictive Cardiomyopathy

  • Cardiomyopathy, Restrictive

  • Cardiomyopathy, Constrictive

  • Primary Restrictive Cardiomyopathy

  • Rcm

  • Cardiomyopathy Restrictive

Left Ventricular Noncompaction
  • Noncompaction Cardiomyopathy

  • Left Ventricular Hypertrabeculation

  • Lvnc

  • Spongy Myocardium

  • Isolated Noncompaction Of The Ventricular Myocardium

  • Left Ventricular Myocardial Noncompaction Cardiomyopathy

  • Fetal Myocardium

  • Honeycomb Myocardium

  • Hypertrabeculation Syndrome

  • Left Ventricular Non-Compaction

  • Lvht

  • Non-Compaction Of The Left Ventricular Myocardium

  • Ventricular Noncompaction, Left

  • Non-Compaction Cardiomyopathy

Cardiomyopathy, Dilated, 1e
  • Left Ventricular Noncompaction 9

  • Left Ventricular Noncompaction 5

  • Dilated Cardiomyopathy 1e

  • Dilated Cardiomyopathy 1s

  • CMD1E

  • Cdcd2

  • Cardiomyopathy, Dilated, 1y

  • CMD1Y

  • Cardiomyopathy, Dilated, 1s

  • CMD1S

  • Dilated Cardiomyopathy 1y

  • Dilated Cardiomyopathy With Conduction Defect 2

  • Dilated Cardiomyopathy With Conduction Disorder And Arrhythmia

  • Cardiomyopathy, Dilated, With Conduction Disorder And Arrhythmia

  • Cardiomyopathy, Dilated, With Conduction Defect 2

  • Cardiomyopathy Dilated With Conduction Defect Type 2

  • Cardiomyopathy, Dilated 1e

  • Cardiomyopathy, Dilated 1s

  • Cardiomyopathy, Dilated 1y

  • Left Ventricular Non-Compaction 5

  • LVNC5

  • Left Ventricular Non-Compaction 9

  • LVNC9

  • Cardiomyopathy, Dilated, Type 1e

  • Cardiomyopathy, Dilated, Type 1s

  • Cardiomyopathy, Dilated, Type 1y

Catecholaminergic Polymorphic Ventricular Tachycardia
  • Cpvt

  • Catecholamine-Induced Polymorphic Ventricular Tachycardia

  • Familial Polymorphic Ventricular Tachycardia

  • Malignant Paroxysmal Ventricular Tachycardia

  • Multifocal Ventricular Premature Beats

  • Stress-Induced Polymorphic Ventricular Tachycardia

  • Bidirectional Tachycardia Induced By Catecholamine

  • Double Tachycardia Induced By Catecholamines

  • Polymorphic Catecholergic Ventricular Tachycardia

  • Syncopal Paroxysmal Tachycardia

  • Bidirectional Tachycardia Induced By Catecholamines

  • Fpvt

  • Bidirectional Ventricular Tachycardia Induced By Catecholamine

  • Polymorphic Ventricular Tachycardia Induced By Catecholamines

  • Ventricular Tachycardia, Catecholaminergic Polymorphic

  • Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

  • Familial Ventricular Tachycardia

  • Multifocal Pvcs

  • Multifocal Premature Ventricular Beats

Brugada Syndrome
  • Sudden Unexpected Nocturnal Death Syndrome

  • Sudden Unexplained Nocturnal Death Syndrome

  • Bangungut

  • Brugada Type Idiopathic Ventricular Fibrillation

  • Pokkuri Death Syndrome

  • Sunds

  • Idiopathic Ventricular Fibrillation, Brugada Type

  • Sudden Unexplained Death

  • Dream Disease

  • Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome

  • Sudden Unexplained Death Syndrome

  • Suds

  • Sunds - [Sudden Unexplained Nocturnal Death Syndrome]

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus DSP VGNC VGNC:61640
Mus musculus DSP MGD MGI:109611
Canis familiaris DSP VGNC VGNC:40110
Bos taurus DSP VGNC VGNC:28225
Macaca mulatta DSP VGNC VGNC:72004
Rattus norvegicus DSP RGD RGD:1305794
Others DSP NCBI