This gene encodes a muscle-specific class III intermediate filament. Homopolymers of this protein form a stable intracytoplasmic filamentous network connecting myofibrils to each other and to the plasma membrane. Mutations in this gene are associated with desmin-related myopathy, a familial cardiac and skeletal myopathy (CSM), and with distal myopathies. [provided by RefSeq, Ju... See more...

Aliases for DES Gene

Aliases for DES Gene

  • Desmin 2 3 4 5
  • Intermediate Filament Protein 2 3
  • CSM1 2 3
  • CSM2 2 3
  • Cardiomyopathy, Dilated 1F (Autosomal Dominant) 3
  • Epididymis Secretory Sperm Binding Protein 3
  • LGMD1D 3
  • LGMD1E 3
  • LGMD2R 3
  • CDCD3 3
  • CMD1I 2
  • DES 5

External Ids for DES Gene

Previous GeneCards Identifiers for DES Gene

  • GC02P218305
  • GC02P219004
  • GC02P220247
  • GC02P220485
  • GC02P220109
  • GC02P219991
  • GC02P220283
  • GC02P212136

Summaries for DES Gene

Entrez Gene Summary for DES Gene

  • This gene encodes a muscle-specific class III intermediate filament. Homopolymers of this protein form a stable intracytoplasmic filamentous network connecting myofibrils to each other and to the plasma membrane. Mutations in this gene are associated with desmin-related myopathy, a familial cardiac and skeletal myopathy (CSM), and with distal myopathies. [provided by RefSeq, Jul 2008]

GeneCards Summary for DES Gene

DES (Desmin) is a Protein Coding gene. Diseases associated with DES include Myopathy, Myofibrillar, 1 and Scapuloperoneal Syndrome, Neurogenic, Kaeser Type. Among its related pathways are Dilated cardiomyopathy (DCM) and Mesenchymal Stem Cells and Lineage-specific Markers. Gene Ontology (GO) annotations related to this gene include identical protein binding and structural constituent of cytoskeleton. An important paralog of this gene is VIM.

UniProtKB/Swiss-Prot Summary for DES Gene

  • Muscle-specific type III intermediate filament essential for proper muscular structure and function. Plays a crucial role in maintaining the structure of sarcomeres, inter-connecting the Z-disks and forming the myofibrils, linking them not only to the sarcolemmal cytoskeleton, but also to the nucleus and mitochondria, thus providing strength for the muscle fiber during activity (PubMed:25358400). In adult striated muscle they form a fibrous network connecting myofibrils to each other and to the plasma membrane from the periphery of the Z-line structures (PubMed:24200904, PubMed:25394388, PubMed:26724190). May act as a sarcomeric microtubule-anchoring protein: specifically associates with detyrosinated tubulin-alpha chains, leading to buckled microtubules and mechanical resistance to contraction. Contributes to the transcriptional regulation of the NKX2-5 gene in cardiac progenitor cells during a short period of cardiomyogenesis and in cardiac side population stem cells in the adult. Plays a role in maintaining an optimal conformation of nebulette (NEB) on heart muscle sarcomeres to bind and recruit cardiac alpha-actin (By similarity).

Gene Wiki entry for DES Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DES Gene

Genomics for DES Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DES Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DES on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DES

Top Transcription factor binding sites by QIAGEN in the DES gene promoter:
  • AP-1
  • FOXO1
  • FOXO1a
  • MyoD
  • p53
  • TBP

Genomic Locations for DES Gene

Genomic Locations for DES Gene
chr2:219,418,377-219,426,734
(GRCh38/hg38)
Size:
8,358 bases
Orientation:
Plus strand
chr2:220,283,099-220,291,461
(GRCh37/hg19)
Size:
8,363 bases
Orientation:
Plus strand

Genomic View for DES Gene

Genes around DES on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DES Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DES Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DES Gene

Proteins for DES Gene

  • Protein details for DES Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P17661-DESM_HUMAN
    Recommended name:
    Desmin
    Protein Accession:
    P17661
    Secondary Accessions:
    • Q15787
    • Q549R7
    • Q549R8
    • Q549R9
    • Q8IZR1
    • Q8IZR6
    • Q8NES2
    • Q8NEU6
    • Q8TAC4
    • Q8TCX2
    • Q8TD99
    • Q9UHN5
    • Q9UJ80

    Protein attributes for DES Gene

    Size:
    470 amino acids
    Molecular mass:
    53536 Da
    Quaternary structure:
    • Homopolymer (PubMed:21135508). Interacts with DST (By similarity). Interacts with MTM1 (PubMed:21135508). Interacts with EPPK1; interaction is dependent of higher-order structure of intermediate filament (PubMed:16923132). Interacts with CRYAB (PubMed:28470624). Interacts with NEB (via nebulin repeats 160-164) (PubMed:23615443). Interacts (via rod region) with NEBL (via nebulin repeats 1-5) (PubMed:27733623).

neXtProt entry for DES Gene

Post-translational modifications for DES Gene

  • ADP-ribosylation prevents ability to form intermediate filaments.
  • Phosphorylation at Ser-7, Ser-28 and Ser-32 by CDK1, phosphorylation at Ser-60 by AURKB and phosphorylation at Thr-76 by ROCK1 contribute to efficient separation of desmin intermediate filaments during mitosis.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DES Gene

Antibody Products

  • Abcam antibodies for DES

No data available for DME Specific Peptides for DES Gene

Domains & Families for DES Gene

Gene Families for DES Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for DES Gene

InterPro:
Blocks:
  • Intermediate filament protein
ProtoNet:

Suggested Antigen Peptide Sequences for DES Gene

GenScript: Design optimal peptide antigens:
  • Desmin (DESM_HUMAN)
  • Desmin (Q5RLN0_HUMAN)
  • Desmin (Q5RLN1_HUMAN)
  • Desmin (Q5RLN2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P17661

UniProtKB/Swiss-Prot:

DESM_HUMAN :
  • Belongs to the intermediate filament family.
Family:
  • Belongs to the intermediate filament family.
genes like me logo Genes that share domains with DES: view

Function for DES Gene

Molecular function for DES Gene

UniProtKB/Swiss-Prot Function:
Muscle-specific type III intermediate filament essential for proper muscular structure and function. Plays a crucial role in maintaining the structure of sarcomeres, inter-connecting the Z-disks and forming the myofibrils, linking them not only to the sarcolemmal cytoskeleton, but also to the nucleus and mitochondria, thus providing strength for the muscle fiber during activity (PubMed:25358400). In adult striated muscle they form a fibrous network connecting myofibrils to each other and to the plasma membrane from the periphery of the Z-line structures (PubMed:24200904, PubMed:25394388, PubMed:26724190). May act as a sarcomeric microtubule-anchoring protein: specifically associates with detyrosinated tubulin-alpha chains, leading to buckled microtubules and mechanical resistance to contraction. Contributes to the transcriptional regulation of the NKX2-5 gene in cardiac progenitor cells during a short period of cardiomyogenesis and in cardiac side population stem cells in the adult. Plays a role in maintaining an optimal conformation of nebulette (NEB) on heart muscle sarcomeres to bind and recruit cardiac alpha-actin (By similarity).
GENATLAS Biochemistry:
desmin,53kDa,found in smooth,cardiac and skeletal muscle,intermediate filament superfamily

Phenotypes From GWAS Catalog for DES Gene

Gene Ontology (GO) - Molecular Function for DES Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005200 structural constituent of cytoskeleton TAS 9736733
GO:0005515 protein binding IPI 11353857
GO:0008092 cytoskeletal protein binding IPI 11309420
GO:0042802 identical protein binding IPI 21135508
genes like me logo Genes that share ontologies with DES: view
genes like me logo Genes that share phenotypes with DES: view

Human Phenotype Ontology for DES Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DES Gene

MGI Knock Outs for DES:
  • Des Des<tm1Cap>
  • Des Des<tm1Cba>
  • Des Des<tm1Ltho>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DES

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for DES Gene

Localization for DES Gene

Subcellular locations from UniProtKB/Swiss-Prot for DES Gene

Cytoplasm, myofibril, sarcomere, Z line. Cytoplasm. Cell membrane, sarcolemma. Nucleus. Note=Localizes in the intercalated disks which occur at the Z line of cardiomyocytes (PubMed:24200904, PubMed:26724190). Localizes in the nucleus exclusively in differentiating cardiac progenitor cells and premature cardiomyocytes (By similarity). {ECO:0000250 UniProtKB:P31001, ECO:0000269 PubMed:24200904, ECO:0000269 PubMed:26724190}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DES gene
Compartment Confidence
plasma membrane 5
cytosol 5
extracellular 4
cytoskeleton 4
nucleus 4
mitochondrion 3
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Intermediate filaments (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DES Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0005882 intermediate filament TAS,IEA --
genes like me logo Genes that share ontologies with DES: view

Pathways & Interactions for DES Gene

genes like me logo Genes that share pathways with DES: view

Pathways by source for DES Gene

2 Reactome pathways for DES Gene
1 GeneGo (Thomson Reuters) pathway for DES Gene
  • Cytoskeleton remodeling Neurofilaments
1 R&D Systems pathway for DES Gene
1 Qiagen pathway for DES Gene
  • Rho Family GTPases
1 Cell Signaling Technology pathway for DES Gene

SIGNOR curated interactions for DES Gene

Is activated by:
Is inactivated by:
Other effect:

Gene Ontology (GO) - Biological Process for DES Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006936 muscle contraction TAS 9697706
GO:0007010 cytoskeleton organization TAS 9736733
GO:0008016 regulation of heart contraction TAS 9697706
GO:0030049 muscle filament sliding TAS --
GO:0045109 intermediate filament organization IMP 24200904
genes like me logo Genes that share ontologies with DES: view

Drugs & Compounds for DES Gene

(43) Drugs for DES Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(40) Additional Compounds for DES Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with DES: view

Transcripts for DES Gene

mRNA/cDNA for DES Gene

7 REFSEQ mRNAs :
28 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DES

Alternative Splicing Database (ASD) splice patterns (SP) for DES Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10
SP1: -
SP2: - -
SP3:
SP4: -

Relevant External Links for DES Gene

GeneLoc Exon Structure for
DES

Expression for DES Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DES Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DES Gene

This gene is overexpressed in Muscle - Skeletal (x10.1), Heart - Left Ventricle (x9.7), Esophagus - Muscularis (x5.3), Colon - Sigmoid (x5.0), Heart - Atrial Appendage (x4.3), and Esophagus - Gastroesophageal Junction (x4.2).

Protein differential expression in normal tissues from HIPED for DES Gene

This gene is overexpressed in Colon muscle (22.6), Urinary Bladder (15.9), and Gallbladder (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DES Gene



Protein tissue co-expression partners for DES Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DES

SOURCE GeneReport for Unigene cluster for DES Gene:

Hs.594952

Evidence on tissue expression from TISSUES for DES Gene

  • Muscle(5)
  • Heart(4.9)
  • Intestine(4.8)
  • Liver(4.4)
  • Stomach(3.7)
  • Lung(2.7)
  • Gall bladder(2.6)
  • Skin(2.5)
  • Nervous system(2.5)
  • Kidney(2)
  • Blood(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DES Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • skull
  • tongue
Thorax:
  • clavicle
  • heart
  • heart valve
  • lung
  • scapula
Abdomen:
  • intestine
  • large intestine
  • small intestine
Pelvis:
  • rectum
Limb:
  • arm
  • elbow
  • foot
  • forearm
  • humerus
  • lower limb
  • shin
  • shoulder
  • thigh
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nervous system
  • red blood cell
  • spinal cord
genes like me logo Genes that share expression patterns with DES: view

No data available for mRNA Expression by UniProt/SwissProt for DES Gene

Orthologs for DES Gene

This gene was present in the common ancestor of chordates.

Orthologs for DES Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DES 30 31
  • 99.65 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia DES 31
  • 97 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia DES 31
  • 94 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia DES 30 31
  • 93.03 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DES 30 31
  • 92.77 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Des 30 17 31
  • 91.19 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Des 30
  • 90.62 (n)
Chicken
(Gallus gallus)
Aves DES 30 31
  • 81.54 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DES 31
  • 88 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia des.1 30
  • 74.47 (n)
MGC75911 30
African clawed frog
(Xenopus laevis)
Amphibia des-prov 30
Zebrafish
(Danio rerio)
Actinopterygii desmb 31
  • 73 (a)
OneToMany
desma 31
  • 70 (a)
OneToMany
desm 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8472 30
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.14901 30
Species where no ortholog for DES was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for DES Gene

ENSEMBL:
Gene Tree for DES (if available)
TreeFam:
Gene Tree for DES (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DES: view image

Paralogs for DES Gene

genes like me logo Genes that share paralogs with DES: view

Variants for DES Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DES Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
201708 Uncertain Significance: Myofibrillar myopathy 1; Muscular dystrophy, limb-girdle, type 2R 219,421,521(+) T/C MISSENSE_VARIANT
201717 Uncertain Significance: Myofibrillar myopathy 1; Muscular dystrophy, limb-girdle, type 2R 219,418,695(+) G/T MISSENSE_VARIANT
636840 Uncertain Significance: not provided 219,418,794(+) A/G MISSENSE_VARIANT
639517 Likely Pathogenic: Myofibrillar myopathy 1; Muscular dystrophy, limb-girdle, type 2R 219,423,821(+) G/A SPLICE_DONOR_VARIANT
639669 Pathogenic: Myofibrillar myopathy 1; Muscular dystrophy, limb-girdle, type 2R 219,421,553(+) G/T NONSENSE

Additional dbSNP identifiers (rs#s) for DES Gene

Structural Variations from Database of Genomic Variants (DGV) for DES Gene

Variant ID Type Subtype PubMed ID
nsv470518 CNV loss 18288195
nsv520958 CNV loss 19592680
nsv834544 CNV loss 17160897

Variation tolerance for DES Gene

Residual Variation Intolerance Score: 72.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.70; 46.29% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DES Gene

Human Gene Mutation Database (HGMD)
DES
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DES

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DES Gene

Disorders for DES Gene

MalaCards: The human disease database

(149) MalaCards diseases for DES Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search DES in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DESM_HUMAN
  • Myopathy, myofibrillar, 1 (MFM1) [MIM:601419]: A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM1 is characterized by skeletal muscle weakness associated with cardiac conduction blocks, arrhythmias, restrictive heart failure, and accumulation of desmin-reactive deposits in cardiac and skeletal muscle cells. {ECO:0000269 PubMed:10545598, ECO:0000269 PubMed:10717012, ECO:0000269 PubMed:10905661, ECO:0000269 PubMed:11061256, ECO:0000269 PubMed:11668632, ECO:0000269 PubMed:12620971, ECO:0000269 PubMed:12766977, ECO:0000269 PubMed:14648196, ECO:0000269 PubMed:14711882, ECO:0000269 PubMed:14724127, ECO:0000269 PubMed:15495235, ECO:0000269 PubMed:15800015, ECO:0000269 PubMed:16009553, ECO:0000269 PubMed:16376610, ECO:0000269 PubMed:16865695, ECO:0000269 PubMed:17221859, ECO:0000269 PubMed:18061454, ECO:0000269 PubMed:19879535, ECO:0000269 PubMed:20829228, ECO:0000269 PubMed:22106715, ECO:0000269 PubMed:22395865, ECO:0000269 PubMed:23615443, ECO:0000269 PubMed:23687351, ECO:0000269 PubMed:25394388, ECO:0000269 PubMed:27733623, ECO:0000269 PubMed:28470624, ECO:0000269 PubMed:9697706, ECO:0000269 PubMed:9736733}. Note=The disease is caused by mutations affecting the gene represented in this entry. Mutations in the DES gene are associated with a variable clinical phenotype which encompasses isolated myopathies, pure cardiac phenotypes (including dilated cardiomyopathy, restrictive cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy), cardiac conduction disease, and combinations of these disorders. If both cardiologic and neurologic features occur, they can manifest in any order, as cardiologic features can precede, occur simultaneously with, or follow manifestation of generalized neuromuscular disease (PubMed:19879535). {ECO:0000269 PubMed:19879535}.
  • Cardiomyopathy, dilated 1I (CMD1I) [MIM:604765]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269 PubMed:10430757, ECO:0000269 PubMed:24200904, ECO:0000269 PubMed:26724190}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Neurogenic scapuloperoneal syndrome Kaeser type (Kaeser syndrome) [MIM:181400]: Autosomal dominant disorder with a peculiar scapuloperoneal distribution of weakness and atrophy. A large clinical variability is observed ranging from scapuloperoneal, limb grindle and distal phenotypes with variable cardiac or respiratory involvement. Facial weakness, dysphagia and gynaecomastia are frequent additional symptoms. Affected men seemingly bear a higher risk of sudden, cardiac death as compared to affected women. Histological and immunohistochemical examination of muscle biopsy specimens reveal a wide spectrum of findings ranging from near normal or unspecific pathology to typical, myofibrillar changes with accumulation of desmin. {ECO:0000269 PubMed:17439987, ECO:0000269 PubMed:25394388}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for DES Gene

desmin-related myopathy characterized by muscle weakness,associated with cardiac dilated cardiomyopathy,conduction blocks,arrhythmias restrictive heart failure,intestinal malabsorption and pseudoobstruction,desmin-reactive deposits in cardiac and skeletal muscle cells

Additional Disease Information for DES

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with DES: view

Publications for DES Gene

  1. A dysfunctional desmin mutation in a patient with severe generalized myopathy. (PMID: 9736733) Muñoz-Mármol AM … Fuchs E (Proceedings of the National Academy of Sciences of the United States of America 1998) 2 3 4 23
  2. Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene. (PMID: 19879535) van Tintelen JP … van den Berg MP (Heart rhythm 2009) 3 4 23
  3. Prevalence of desmin mutations in dilated cardiomyopathy. (PMID: 17325244) Taylor MR … BEST (Beta-Blocker Evaluation of Survival Trial) DNA Bank (Circulation 2007) 3 23 41
  4. Desmin mutations in a St. Petersburg cohort of cardiomyopathies. (PMID: 17626518) Kostareva A … Sejersen T (Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 2006) 3 23 41
  5. [Correlation between desmin gene, platelet-activating factor acetylhydrolase gene and dilated cardiomyopathy]. (PMID: 16761416) Wang B … Chen XY (Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition 2006) 3 23 41

Products for DES Gene