DES - desmin Gene

Homo sapiens

Also known as CSM1; CSM2; CDCD3; LGMD1D; LGMD1E; LGMD2R

Gene ID: 1674 | Gene type: protein coding

About DES

Cytogenetic location: 2q35 Genomic coordinates (GRCh38): 2:219,418,377-219,426,734 (from NCBI)

This gene has 5 transcripts (splice variants), 276 orthologues, 68 paralogues and is associated with 8 phenotypes. Biased expression in heart (RPKM 2605.8), esophagus (RPKM 953.7) and 6 other tissues.

Summary

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]

DES Products(7)

mRNA	Protein	Name
NM_001382708.1	NP_001369637.1	desmin isoform 2
NM_001382709.1	NP_001369638.1	desmin isoform 3
NM_001382710.1	NP_001369639.1	desmin isoform 4
NM_001382711.1	NP_001369640.1	desmin isoform 5
NM_001382712.1	NP_001369641.1	desmin isoform 6
NM_001382713.1	NP_001369642.1	desmin isoform 7
NM_001927.4	NP_001918.3	desmin isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables cytoskeletal protein binding	IPI IPI: Inferred from physical interaction	11309420	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	21135508	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11353857	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in intermediate filament organization	IMP IMP: Inferred from mutant phenotype	24200904	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in Z disc	IDA IDA: Inferred from direct assay	9415431	GOA
located in cardiac myofibril	IDA IDA: Inferred from direct assay	25771144	GOA
located in intercalated disc	IDA IDA: Inferred from direct assay	24200904	GOA
located in sarcolemma	IDA IDA: Inferred from direct assay	25394388	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

DES Protein Structure

Filament_head

Filament

0
100
200
300
400
470 a.a.

Protein Preferred Names

Protein Names

desmin

cardiomyopathy, dilated 1F (autosomal dominant)

Recombinant DES Proteins

Cat. No.	Product Name	Accession	Purity
HY-P70006	Desmin/DES Protein, Human (His)	P17661 (V261-L470)	≥95%

Related Diseases

Diseases

Alias

Myopathy, Myofibrillar, 1

Desmin-Related Myofibrillar Myopathy	Desmin-Related Myopathy
MFM1	Myopathy, Myofibrillar, Desmin-Related
Drm	Myofibrillar Myopathy With Arrhythmogenic Right Ventricular Cardiomyopathy
Desmin-Related Myopathy With Arrhythmogenic Right Ventricular Cardiomyopathy	Myofibrillar Myopathy 1
Desminopathy	Muscular Dystrophy, Limb-Girdle, Type 2r
Arrhythmogenic Right Ventricular Dysplasia, Familial, 7	Desminopathy, Primary
Arrhythmogenic Right Ventricular Dysplasia, Familial, 7, Formerly	Arvd7, Formerly
Arrhythmogenic Right Ventricular Cardiomyopathy 7, Formerly	Arvc7, Formerly
Inclusion Body Myopathy 1, Autosomal Dominant, Formerly	Ibm1, Formerly
Cardiomyopathy, Dilated, 1f And Limb-Girdle Muscular Dystrophy Type 1d, Formerly	Cmd1f And Lgmd1d, Formerly
Cardiomyopathy, Dilated, With Conduction Defect And Muscular Dystrophy	Cdcd3, Formerly
Muscular Dystrophy, Limb-Girdle, Type 2r, Formerly	Lgmd2r, Formerly
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2r	Arrhythmogenic Right Ventricular Cardiomyopathy 7
Arvc7	Arvd7
Autosomal Dominant Inclusion Body Myopathy 1	Cdcd3
Cmd1f And Lgmd1d	Desminopathy Primary
Dilated Cardiomyopathy 1f And Limb-Girdle Muscular Dystrophy Type 1d	Dilated Cardiomyopathy With Conduction Defect And Muscular Dystrophy
Familial Arrhythmogenic Right Ventricular Dysplasia 7	Lgmd2r
Limb-Girdle Muscular Dystrophy 2r	Mfm Desmin-Related
Myopathy Myofibrillar Desmin-Related	Dystrophy, Muscular, Limb-Girdle, Type 2r

Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

KAESER SYNDROME	Stark-Kaeser Syndrome
Neurogenic Scapuloperoneal Syndrome Kaeser Type	Neurogenic Scapuloperoneal Syndrome, Kaeser Type
Scapuloperoneal Syndrome, Neurogenic Type, Of Kaeser	SCPNK
Scapuloperoneal Syndrome Type Kaeser

Cardiomyopathy, Dilated, 1i

CMD1I	Dilated Cardiomyopathy 1i
Cardiomyopathy, Dilated 1i	Cardiomyopathy, Dilated, Type 1i

Myofibrillar Myopathy

Desmin Related Myopathy	Myotilinopathy
Myopathy, Myofibrillar	Alpha Beta Crystallinopathy
Desmin Storage Myopathy	Desminopathy
Filaminopathy	Protein Surplus Myopathy
Zaspopathy	Myofibrillar Myopathies
Myopathy, Myofibrillar, Desmin-Related	Myopathy, Desmin Storage
Mfm - [Myofibrillar Myopathy]

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

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

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

Familial Isolated Dilated Cardiomyopathy

Familial Or Idiopathic Dilated Cardiomyopathy

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

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

Lymphangioleiomyomatosis

Lymphangiomyomatosis	LAM
Lung Lymphangioleiomyomatosis	Pulmonary Lymphangioleiomyomatosis
Lymphangioleiomyomatosis, Somatic	Lymphangio-Myomatosis

Neuromuscular Disease

Neuromuscular Diseases	Neuromuscular Disorders
Neuromuscular Disorder

Mesenchymal Chondrosarcoma

Chondrosarcoma, Mesenchymal

Chondrosarcoma Mesenchymal

Epithelioid Leiomyosarcoma

Leiomyosarcoma Epithelioid

Leiomyosarcoma, Epithelioid

Adenosarcoma

Mullerian Adenosarcoma

Cardioneuromyopathy With Hyaline Masses And Nemaline Rods

Restrictive Cardiomyopathy

Familial Restrictive Cardiomyopathy	Cardiomyopathy, Restrictive
Cardiomyopathy, Constrictive	Primary Restrictive Cardiomyopathy
Rcm	Cardiomyopathy Restrictive

Dedifferentiated Liposarcoma

Ddls	Liposarcoma Dedifferentiated
Liposarcoma, Dedifferentiated

Fibromatosis

Glomus Tumor

Glomus Neoplasm

Glomus Tumour

Myopathy

Muscular Diseases

Myopathies

Alveolar Soft Part Sarcoma

ASPS	Alveolar Soft-Part Sarcoma
Sarcoma, Alveolar Soft Part	Alveolar Soft Tissue Sarcoma
Sarcoma Alveolar Soft Part	Adult Alveolar Soft-Part Sarcoma
Childhood Alveolar Soft-Part Sarcoma

Leiomyosarcoma

Leiomyosarcomas

Fibroma

Carcinosarcoma

Mixed Tumor, Mullerian	Malignant Mixed Mesodermal Tumor
Malignant Mixed Mullerian Tumor	Mmmt
Mixed Tumor, Mesodermal	Mesodermal Mixed Tumor
Mixed Mesodermal Tumor	Mullerian Mixed Tumor
Mixed Mullerian Tumor	Malignant Mixed Müllerian Tumor
Mixed Müllerian Tumor	Mixed Tumor Mullerian
Mixed Tumor, Not Otherwise Specified

Fibrous Histiocytoma

Benign Fibrous Histiocytoma	Histiocytoma, Benign Fibrous
Fibroxanthoma	Histiocytoma Fibrous

Embryonal Rhabdomyosarcoma

Rhabdomyosarcoma, Embryonal	Rhabdomyosarcoma Embryonal
Botryoid Rhabdomyosarcoma	Erms
Spindle Cell Rhabdomyosarcomas

Granular Cell Tumor

Abrikosov'S Tumor	Neoplasm Of Granular Cell
Abrikosoff'S Granulous Cell Tumor	Abrikosoff'S Tumor
Giant Granulocellular Abrikosov'S Tumor	Malignant Variant Of Abrikosov'S Tumor
Carcinoma, Granular Cell

Myopathy, Spheroid Body

Spheroid Body Myopathy	Autosomal Dominant Spheroid Body Myopathy
SBM

Medullary Colon Carcinoma

Angiomyolipoma

Angiomyolipoma Of Kidney

Endometrial Stromal Sarcoma

Ess	Endometrial Stromal Sarcoma, High Grade
Undifferentiated Endometrial Sarcoma	Stromal Sarcoma Of The Corpus Uteri
Sarcoma Endometrial Stromal	Sarcoma, Endometrial Stromal
Undifferentiated Stromal Sarcoma

Dermatofibrosarcoma Protuberans

DFSP	Dermatofibrosarcoma
Giant Cell Fibroblastoma	Metastatic Dermatofibrosarcoma Protuberans
Familial Dermatofibrosarcoma Protuberans	Darier-Ferrand Tumor
Darier-Hoffmann Tumor

Desmoplastic Small Round Cell Tumor

Dsrct	Desmoplastic Small Round-Cell Tumor
Desmoplastic Small Round-Cell Neoplasm

Miyoshi Muscular Dystrophy

Distal Myopathy	Distal Muscular Dystrophy
Miyoshi Myopathy	Distal Myopathies
Dystrophy, Muscular, Miyoshi	Myopathy, Distal
Distal Muscular Dystrophies

Leiomyoma

Leiomyomatous Neoplasm	Leiomyomatous Tumor
Leiomyomas	Fibroid Tumor
Uterine Fibroids

Malignant Fibrous Histiocytoma

Undifferentiated Pleomorphic Sarcoma	Ups
Histiocytoma, Malignant Fibrous	Fibroxanthosarcoma
Mfh	Malignant Fibrohistiocytic Tumors
Histiocytoma, Fibrous, Malignant

Infantile Myofibromatosis

Lipofibromatosis

Myofibromatosis

Cardiomyopathy, Familial Hypertrophic, 1

Asymmetric Septal Hypertrophy	Familial Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 1	CMH1
Hypertrophic Cardiomyopathy 19	CMH
Ventricular Hypertrophy, Hereditary	Ash
Hypertrophic Subaortic Stenosis, Idiopathic	Cardiomyopathy, Familial Hypertrophic
Cardiomyopathy, Hypertrophic, 1, Digenic	Cardiomyopathy, Familial Hypertrophic 1
Hcm	Hereditary Ventricular Hypertrophy
Idiopathic Hypertrophic Subaortic Stenosis	Hypertrophic Cardiomyopathy
Cardiomyopathy, Hypertrophic, Familial	Cardiomyopathy, Hypertrophic, 1
Familial Asymmetric Septal Hypertrophy	Heritable Hypertrophic Cardiomyopathy
Fhc	Cardiomyopathy, Hypertrophic, Familial, Type 1

Liposarcoma

Lipomatous Cancer

Gastrointestinal Stromal Tumor

GIST	Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Sarcoma	Gastrointestinal Stromal Tumor, Familial
Gant	Gastrointestinal Stromal Tumour
Stromal Tumor Of Gastrointestinal Tract	Stromal Tumour Of Gastrointestinal Tract
Gastrointestinal Stromal Neoplasm	Paraganglioma And Gastric Stromal Sarcoma
Plexosarcoma

Muscle Cancer

Myosarcoma	Malignant Neoplasm Of Muscle
Malignant Tumor Of Muscle	Malignant Tumor Of The Muscle
Muscle Neoplasms	Myomatous Neoplasm

Angiolipoma

Uterus Leiomyosarcoma

Leiomyosarcoma Of Uterus	Leiomyosarcoma Of Corpus Uteri
Leiomyosarcoma Of The Corpus Uteri	Uterine Leiomyosarcoma

Uterine Sarcoma

Sarcoma Of The Uterus

Uterine Corpus Sarcoma

Pseudosarcomatous Fibromatosis

Nodular Fasciitis	Pseudosarcomatous Fasciitis
Fasciitis - Nodular	Fasciitis Nodular

Smooth Muscle Tumor

Pleomorphic Adenoma

Mixed Tumor Of The Salivary Gland	Adenoma Pleomorphic
Adenoma, Pleomorphic	Mixed Salivary Gland Tumor
Mixed Tumor, Not Otherwise Specified

Spindle Cell Sarcoma

Sarcoma	Sarcoma Spindle Cell
Sarcoma, Spindle Cell	Sarcoma - Category

Atrioventricular Block

Av Block

Hemangiopericytoma, Malignant

Hemangiopericytoma	Haemangiopericytic Meningioma
Malignant Hemangiopericytoma	Solitary Fibrous Tumor

Centronuclear Myopathy

Myopathy, Centronuclear	Myotubular Myopathy
Cnm	Myopathy, Myotubular
Congenital Structural Myopathy

Rhabdomyosarcoma

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2

Lgmd2b	Muscular Dystrophy, Limb-Girdle, Type 2b
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e	Beta-Sarcoglycanopathy
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2y	Muscular Dystrophy, Limb-Girdle, Type 3
Lgmd3	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2s
LGMDR2	Muscular Dystrophy, Limb-Girdle, Type 2s
Limb-Girdle Muscular Dystrophy Type 2b	Lgmd2e
Limb-Girdle Muscular Dystrophy Due To Beta-Sarcoglycan Deficiency	Muscular Dystrophy, Limb-Girdle, Type 2e
Lgmd2s	Autosomal Recessive Muscular Dystrophy Due To Lap1b Deficiency
Autosomal Recessive Muscular Dystrophy Due To Torsin-1a-Interacting Protein 1 Deficiency	Lgmd2y
Muscular Dystrophy With Progressive Weakness, Distal Contractures And Rigid Spine	Muscular Dystrophy, Limb-Girdle, Type 2y
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b
Dysferlin-Related Lgmd R2	Lgmd Due To Dysferlin Deficiency
Lgmd Type 2b	Limb-Girdle Muscular Dystrophy Due To Dysferlin Deficiency
Limb-Girdle Muscular Dystrophy 2b	Limb-Girdle Muscular Dystrophy, Type 2b
Dystrophy, Muscular, Limb-Girdle, Autosomal Recessive, Type 2	Dystrophy, Muscular, Limb-Girdle, Type 2b
Limb-Girdle Muscular Dystrophy, Type 2e

Batten-Turner Congenital Myopathy

Congenital Myopathy	Batten Turner Congenital Myopathy
Myopathy Congenital	Myopathy, Congenital
Myotonia Congenita	Benign Congenital Myopathy

Cutaneous Fibrous Histiocytoma

Dermatofibroma	Fibrohistiocytic Tumor
Benign Cutaneous Fibrous Histiocytoma	Fibrous Histiocytoma Of Skin
Fibrous Xanthoma Of Skin	Pleomorphic Fibroma
Sclerosing Angioma	Sclerosing Angioma Of Skin
Fibrous Histiocytoma

Chordoma

CHDM	Notochordoma
Notochordal Sarcoma	Chordoma, Susceptibility To
Chordocarcinoma	Chordoepithelioma

Rhabdoid Cancer

Rhabdoid Tumor	Malignant Rhabdoid Tumor
Malignant Rhabdoid Tumour	Rhabdoid Sarcoma
Rhabdoid Tumor Predisposition Syndrome 1	Rhabdoid Tumor Predisposition Syndrome 2
Atypical Teratoid Rhabdoid Tumor	Brain Tumor, Posterior Fossa, Of Infancy, Familial
Atypical Teratoid/Rhabdoid Tumor

Muscular Dystrophy-Dystroglycanopathy , Type C, 7

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2u	Lgmd2u
MDDGC7	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 20
Lgmdr20	Muscular Dystrophy, Limb-Girdle, Type 2u
Autosomal Recessive Limb-Girdle Muscular Dystrophy Due To Ispd Deficiency	Muscular Dystrophy Limb-Girdle Type 2u
Muscular Dystrophy-Dystroglycanopathy Type C7	Ispd-Related Limb-Girdle Muscular Dystrophy R20
Ispd-Related Lgmd R20	Lgmd Type 2u
Limb-Girdle Muscular Dystrophy Type 2u	Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C7
Dystrophy, Muscular, Dystroglycanopathy, Type C7

Muscular Dystrophy-Dystroglycanopathy , Type C, 14

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2t	Lgmd2t
MDDGC14	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 19
Lgmdr19	Muscular Dystrophy Limb-Girdle Type 2t
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Gmppb-Related	Muscular Dystrophy, Limb-Girdle, Type 2t
Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Gmppb-Related	Muscular Dystrophy-Dystroglycanopathy Type C14
Gmppb-Related Limb-Girdle Muscular Dystrophy R19	Gmppb-Related Lgmd R19
Lgmd Type 2t	Limb-Girdle Muscular Dystrophy Type 2t
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C14	Dystrophy, Muscular, Limb-Girdle, Type 2t

Rhabdomyosarcoma 2

Alveolar Rhabdomyosarcoma	Rhabdomyosarcoma, Alveolar
Rhabdomyosarcoma Alveolar	RMS2
Rmsa	Rhabdomyosarcoma 2, Alveolar
Alveolar Childhood Rhabdomyosarcoma	Arms
Rhabdomyosarcoma, Type 2

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w

Lgmd2w

Muscular Dystrophy, Limb-Girdle, Type 2w

Fibrosarcoma

Neoplasms, Fibrous Tissue	Fibrocytic Tumor
Fibrosarcoma Of Soft Tissue	Fibrous Tissue Neoplasm

Pulmonary Blastoma

Blastoma Of Lung

Pneumoblastoma

Syringoma

Syringomas

Muscular Dystrophy-Dystroglycanopathy , Type C, 9

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2p	Lgmd2p
MDDGC9	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 16
Lgmdr16	Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Dag1-Related
Muscular Dystrophy, Limb-Girdle, Type 2p	Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Dag1-Related
Muscular Dystrophy-Dystroglycanopathy Type C9	Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Alpha-Dystroglycan-Related Lgmd R16	Lgmd Type 2p
Limb-Girdle Muscular Dystrophy Type 2p	Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C9
Muscular Dystrophy Limb-Girdle Type 2p	Dystrophy, Muscular, Limb-Girdle, Type 2p

Central Core Disease Of Muscle

Central Core Disease	Central Core Myopathy
CCD	Cco
Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber	Myopathy, Central Core
Shy-Magee Syndrome	Muscle Core Disease
Muscular Central Core Disease	Myopathy, Central Fibrillar
Shy'S Disease	Moderate Multiminicore Disease With Hand Involvement

Nephroma

Benign Nephroma

Adenomatoid Tumor

Adenomatoid Tumour	Benign Localised Epithelial Mesothelioma
Benign Localized Epithelial Mesothelioma

Neuroleptic Malignant Syndrome

Muscular Dystrophy

Muscular Dystrophies	Congenital Md
Congenital Muscular Dystrophy	Cmd
Mdc	Dystrophy, Muscular
Gower'S Muscular Dystrophy	Progressive Musclular Dystrophy
Pseudohypertrophic Atrophy	Pseudohypertrophic Muscle Paralysis
Pseudohypertrophic Muscular Atrophy	Pseudohypertrophic Muscular Dystrophy
Pseudohypertrophic Paralysis	Pseudomuscular Hypertrophy

Sertoli-Leydig Cell Tumor

Sertoli-Leydig Cell Tumors	Androblastoma Of Ovary
Arrhenoblastoma	Arrhenoblastoma Of Ovary
Sertoli-Leydig Cell Tumor Of The Ovary	Sertoli-Leydig Cell Tumor Of Intermediate Differentiation
Sertoli-Leydig Cell Tumor Of Ovary

Perineurioma

Soft Tissue Perineurioma

Myoepithelioma

Benign Myoepithelioma	Myoepithelial Adenoma
Myoepithelial Neoplasm	Malignant Myoepithelioma

Limb-Girdle Muscular Dystrophy

Lgmd	Limb Girdle Muscular Dystrophy
Muscular Dystrophies, Limb-Girdle	Erb'S Muscular Dystrophy
Leyden-Mbius Muscular Dystrophy	Limb-Girdle Syndrome
Myopathic Limb-Girdle Syndrome	Limb Girdle
Muscular Dystrophy Limb-Girdle	Dystrophy, Muscular, Limb-Girdle
Lgmd - [Limb-Girdle Muscular Dystrophy]	Limb Girdle Muscle Dystrophy
Limb-Girdle Myopathy

Immunodeficiency 48

Combined Immunodeficiency Due To Zap70 Deficiency	IMD48
Selective T-Cell Defect	Stcd
Zeta-Associated-Protein 70 Deficiency	Severe Combined Immunodeficiency, Atypical
Immunodeficiency, Type 48	Zap70 Deficiency

Leiomyomatosis

Echinostomiasis

Infection By Echinochasmus

Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1

Muscular Dystrophy, Limb-Girdle, Type 1e	Lgmd1d
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1d	LGMDD1
Lgmd1e	Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1
Limb-Girdle Muscular Dystrophy Type 1d	Muscular Dystrophy, Limb-Girdle, Type 1d
Muscular Dystrophy, Limb-Girdle, Type 1d, Formerly	Lgmd1d, Formerly
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1e	Muscular Dystrophy Limb-Girdle Type 1d
Muscular Dystrophy Limb-Girdle Type 1e	Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Dnajb6-Related Lgmd D1	Lgmd Type 1d
Limb-Girdle Muscular Dystrophy 1e	Limb-Girdle Muscular Dystrophy-1d, Autosomal Dominant
Dystrophy, Muscular, Limb-Girdle, Autosomal Dominant, Type 1	Dystrophy, Muscular, Limb-Girdle, Type 1e

Benign Giant Cell Tumor

Giant Cell Tumors

Lipomatosis, Multiple

Lipoma	Familial Multiple Lipomatosis
Lipomatosis, Familial Multiple	Benign Lipomatous Tumor
Lipomatous Neoplasm	Multiple Lipomatosis
Fml	Lipo
Benign Tumor Of Adipose Tissue	Lipomatous Tumor
Tumor Of Adipose Tissue	Neoplasms, Adipose Tissue
Lipomas

Desmoid Tumor

Aggressive Fibromatosis	Desmoid Type Fibromatosis
Familial Infiltrative Fibromatosis	Desmoid Disorder, Hereditary
Fif	Fibromatosis, Familial Infiltrative
Deep Fibromatosis	Desmoid Fibromatosis
Hereditary Desmoid Disease	Musculoaponeurotic Fibromatosis
Desmoid-Type Fibromatosis	Fibromatosis, Aggressive
Desmoid Disease, Hereditary	Musculo-Aponeurotic Fibromatosis

Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3

Lgmd1g	Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g
LGMDD3	Muscular Dystrophy, Limb-Girdle, Type 1g
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 3	Limb-Girdle Muscular Dystrophy, Type 1g
Muscular Dystrophy Limb-Girdle Type 1g	Hnrnpdl-Related Limb-Girdle Muscular Dystrophy D3
Hnrnpdl-Related Lgmd D3	Lgmd Type 1g
Limb-Girdle Muscular Dystrophy Type 1g	Limb-Girdle Muscular Dystrophy 1g
Dystrophy, Muscular, Limb-Girdle, Type 1g

Neurilemmoma

Schwannoma	Benign Schwannoma
Neurilemoma	Peripheral Fibroblastoma
Psammomatous Schwannoma	Neurolemmoma
Schwannomas

Castleman Disease

Angiofollicular Ganglionic Hyperplasia	Angiofollicular Lymph Hyperplasia
Giant Lymph Node Hyperplasia	Castleman'S Disease
Angiofollicular Lymph Node Hyperplasia	Lymphoid Hamartoma
Benign Giant Lymphoma	Angiolymphoid Hyperplasia

Fasciitis

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

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g

Lgmd2g	Limb-Girdle Muscular Dystrophy Due To Telethonin Deficiency
Muscular Dystrophy, Limb-Girdle, Type 2g

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j

Lgmd2j

Muscular Dystrophy, Limb-Girdle, Type 2j

Coffin-Siris Syndrome 1

Coffin-Siris Syndrome	Fifth Digit Syndrome
Css	CSS1
Mrd12	Mental Retardation, Autosomal Dominant 12
Hhid	Dwarfism-Onychodysplasia
Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features	Autosomal Dominant Mental Retardation 12
Short Stature-Onychodysplasia.	Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx
Mental Retardation With Hypoplastic Fifth Fingernails And Toenails	Short Stature-Onychodysplasia
Coffin-Siris Syndrome, Type 1	Mental Retardation, Autosomal Dominant, Type 12

Sarcoma, Synovial

Synovial Sarcoma	Synovialosarcoma
Synovial Cell Sarcoma	Sarcoma Synovial

Pneumothorax

Pneumothorax Nos	Air Leak Nos
Pleural Air Leak Nos

Myasthenic Syndrome, Congenital, 6, Presynaptic

Familial Infantile Myasthenia	CMS6
Cmsea	Congenital Myasthenic Syndrome 6
Familial Infantile Myasthenia Gravis 2	Fimg2
Myasthenic Syndrome, Congenital, Associated With Episodic Apnea	Myasthenic Syndrome, Presynaptic, Congenital, Associated With Episodic Apnea
Congenital Myasthenic Syndrome Type Ia2, Formerly	Cms1a2, Formerly
Cms Ia2, Formerly	Myasthenia, Familial Infantile, Formerly
Fim, Formerly	Myasthenia Gravis, Familial Infantile, 2, Formerly
Fimg2, Formerly	Cms Ia2
Cms1a2	Congenital Myasthenic Syndrome 6, Presynaptic
Congenital Myasthenic Syndrome Type Ia2	Congenital Presynaptic Myasthenic Syndrome Associated With Episodic Apnea
Fim	Cms1a
Cms-Ea	Cms Ia
Congenital Myasthenic Syndrome Pre-Synaptic Associated With Episodic Apnea	Congenital Myasthenic Syndrome Type 1a
Congenital Myasthenic Syndrome Type Ia	Myasthenic Syndrome, Congenital, Type 6, Presynaptic

Lipodystrophy, Familial Partial, Type 6

FPLD6	Lipe-Related Familial Partial Lipodystrophy
Familial Partial Lipodystrophy Type 6	Lipe-Related Fpld
Lipodystrophy, Familial Partial, Associated With Lipe Mutations	Familial Partial Lipodystrophy Associated With Lipe Mutations
Lipodystrophy, Familial Partial, 6

Myopathy, Myofibrillar, 3

Myotilinopathy	Myofibrillar Myopathy 3
MFM3	Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a
Lgmd1a	Muscular Dystrophy, Limb-Girdle, Type 1a
Myopathy, Myofibrillar, Myotilin-Related	Muscular Dystrophy, Limb-Girdle, Type 1, Formerly
Lgmd1, Formerly	Muscular Dystrophy, Limb-Girdle, Type 1a, Formerly
Lgmd1a, Formerly	Qualitative Or Quantitative Defects Of Myotilin
Limb-Girdle Muscular Dystrophy Due To Myotilin Deficiency	Distal Myotilinopathy
Lgmd1	Limb-Girdle Muscular Dystrophy 1a
Mfm Myotilin-Related	Muscular Dystrophy, Limb-Girdle, Type 1
Myopathy Myofibrillar Myotylin-Related	Myopathy, Myofibrillar, Type 3

Medulloblastoma

MDB	Cpnet
Localized Primitive Neuroectodermal Tumor	Classic Medulloblastoma
Medulloblastoma Predisposition Syndrome	Medulloblastoma, Somatic
Brain Medulloblastoma	Cns Pnet
Infratentorial Primitive Neuroectodermal Tumor	Neuroectodermal Tumors, Primitive
Medulloblastomas	Desmoplastic Medulloblastoma
Medulloblastoma, With Extensive Nodularity	Medulloblastoma Of Unspecified Site
Medullomyoblastoma Of Unspecified Site

Achalasia

Cardiospasm	Achalasia Of Cardia
Esophageal Achalasia	Hypertensive Lower Esophageal Sphincter
Idiopathic Achalasia	Achalasia Cardia
Idiopathic Achalasia Of Esophagus	Primary Achalasia
Achalasia Of Esophagus	Lack Of Reflex Relaxation Of Lower Oesophageal Sphincter
Aperistalsis Of The Oesophagus	Achalasia Of Oesophagus
Oesophageal Achalasia	Achalasia Nos
Cardia Spasm	Cardia Achalasia
Oesophageal Cardiospasm	Oesophagus Achalasia
Reflex Cardiospasm

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

Ewing Sarcoma

Neuroepithelioma	Ewing'S Tumor
Primitive Neuroectodermal Tumor	Ewings Sarcoma
Ewing'S Sarcoma	Peripheral Neuroepithelioma
ES	Ewings Sarcoma-Primitive Neuroectodermal Tumor
Localized Peripheral Primitive Neuroectodermal Tumor	Peripheral Primitive Neuroectodermal Tumor
Ewing Tumor	Sarcoma, Ewing'S
Ewing Family Of Tumors	Extraosseous Ewing Tumor
Askin Tumor	Ewing'S Family Localized Tumor
Ewing'S Sarcoma/Peripheral Primitive Neuroectodermal Tumor	Localized Ewing Sarcoma
Localized Ewing'S Sarcoma	Localized Ewing'S Sarcoma/Peripheral Primitive Neuroectodermal Tumor
Localized Ewing'S Tumor	Pnet Of Thoracopulmonary Region
Tumor Of The Ewing Family	Skeletal Ewing Sarcoma
Osseous Ewing Sarcoma	Ppnet
Peripheral Pnet	Extraskeletal Ewing Sarcoma
Eoe	Extraosseous Ewing Sarcoma
Extraskeletal Ewing Tumor	Esft
Ewing Sarcoma Family Of Tumors	Pne
Pnet	Pnet Of The Chest Wall
Sarcoma, Ewing	Neuroectodermal Tumors, Primitive, Peripheral
Neuroectodermal Tumor, Primitive	Disorder Of Eye
Askin'S Tumor	Extraosseous Ewings Sarcoma-Primitive Neuroepithelial Tumor
Neuroepithelioma, Peripheral

Cardiomyopathy, Dilated, 1h

Dilated Cardiomyopathy 1h	Dilated Cardiomyopathy With Conduction Defect
CMD1H	Cardiomyopathy, Dilated, With Conduction Defect

Muscular Dystrophy, Duchenne Type

Duchenne Muscular Dystrophy	DMD
Muscular Dystrophy, Duchenne	Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type
Severe Dystrophinopathy, Duchenne Type	Muscular Dystrophy Duchenne
Dystrophy, Muscular, Duchenne Type	Benign Duchenne Muscular Dystrophy
Duchenne Motor Neuron Disease	Duchenne Type Dystrophy
Duchenne-Griesinger Disease

Constipation

Related Agents

Approval

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-14598	Diethylstilbestrol		99.62%	Unkown
HY-P0048	(Des-Gly10,D-Ala6,Pro-NHEt9)-LHRH	Agonist	/	Unkown

Pre-clinical Phase

Bioactive Molecules (43)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-12807	FIPI	Inhibitor	99.82%	Unkown
HY-P0298A	[Des-Arg9]-Bradykinin acetate	Agonist	99.95%	Unkown
HY-P1366	des-Gln14-Ghrelin		98.61%	Unkown
HY-122402	Umirolimus		99.35%	Unkown
HY-103295A	Lys-[Des-Arg9]Bradykinin TFA	Agonist	99.43%	Unkown
HY-P1143A	[Des-His1,Glu9]-Glucagon amide TFA	Antagonist	99.62%	Unkown
HY-N9542	Dimethyl Citric acid		≥97.0%	Unkown
HY-W040270	Amino-PEG10-amine		≥97.0%	Unkown
HY-N11758	5′-Des-O-methylharringtonine		99.80%	Unkown
HY-103291	Sar-[D-Phe8]-des-Arg9-Bradykinin	Agonist	99.34%	Unkown
HY-130411	Amino-PEG11-amine		≥95.0%	Unkown
HY-P1490	Bradykinin (2-9)	Modulator	97.15%	Unkown
HY-P0298	[Des-Arg9]-Bradykinin	Agonist	/	Unkown
HY-P4676	Lys-(Des-Arg9,Leu8)-Bradykinin	Antagonist	98.23%	Unkown
HY-P4683	(Phenylac1,D-Tyr(Et)2,Lys6,Arg8,des-Gly9)-Vasopressin	Antagonist	/	Unkown
HY-P4683A	(Phenylac1,D-Tyr(Et)2,Lys6,Arg8,des-Gly9)-Vasopressin acetate	Antagonist	99.81%	Unkown
HY-12807A	FIPI hydrochloride	Inhibitor	/	Unkown
HY-132795S	Des(1-cyclohexanol) Venlafaxine-d6		/	Unkown
HY-141757S	Des-p-fluorobenzyl mosapride-d5		/	Unkown
HY-103295	Lys-[Des-Arg9]Bradykinin	Agonist	/	Unkown
HY-15899	Des(benzylpyridyl) Atazanavir	Inhibitor	/	Unkown
HY-163472	PR280	Inhibitor	/	Unkown
HY-D1346	610CP		/	Unkown
HY-P1143	[Des-His1,Glu9]-Glucagon amide	Antagonist	/	Unkown
HY-P1366A	des-Gln14-Ghrelin TFA		/	Unkown
HY-P3209	Des-Arg9-[Leu8]-Bradykinin acetate	Inhibitor	/	Unkown
HY-P3542	Des His1, Glu8 Exendin-4	Antagonist	/	Unkown
HY-P3583	(Des-Gly10,D-Arg6,Pro-NHEt9)-LHRH II (chicken)		/	Unkown
HY-P3608	[Des-His1,Glu9] Glucagon	Antagonist	/	Unkown
HY-P4397	(d(CH2)51,Tyr(Me)2,Thr4,Orn8,des-Gly-NH29)-Vasotocin		/	Unkown
HY-P4413	(Des-Glu5)-ACTH (1-24) (human, bovine, rat)		/	Unkown
HY-P4432	(Des-Gly10,D-Ala6,Pro-NHEt9)-LHRH (salmon)		/	Unkown
HY-P4440	(Des-Gly10,Des-Ser4,D-Leu6,Pro-NHEt9)-LHRH		/	Unkown
HY-P4441	(Des-Gly10,D-His2,D-His(Bzl)6,Pro-NHEt9)-LHRH		/	Unkown
HY-P4442	(Des-Gly10,D-His2,D-Trp6,Pro-NHEt9)-LHRH		/	Unkown
HY-P4445	(Des-Gly10,D-Leu6,Orn8,Pro-NHEt9)-LHRH		/	Unkown
HY-P4447	(Des-Gly10,D-Pyr1,D-Leu6,Pro-NHEt9)-LHRH		/	Unkown
HY-P4456	(Des-His6)-ACTH (1-24) (human, bovine, rat)		/	Unkown
HY-P4463	(Des-Pyr1)-LHRH		/	Unkown
HY-P4467	(Des-Pyr1,Des-Gly10,D-Leu6,Pro-NHEt9)-LHRH		/	Unkown
HY-P4541	(D-Phe6,Leu-NHEt13,des-Met14)-Bombesin (6-14)	Antagonist	/	Unkown
HY-P5713	Des(8-14)brevinin-1PMa	Inhibitor	/	Unkown
HY-RS03703	DES Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	DES	MGD	MGI:94885
Canis familiaris	DES	VGNC	VGNC:39905
Rattus norvegicus	DES	RGD	RGD:620686
Bos taurus	DES	VGNC	VGNC:28013
Macaca mulatta	DES	VGNC	VGNC:71770
Felis catus	DES	VGNC	VGNC:61451
Others	DES	NCBI