SGCA - sarcoglycan alpha Gene

Also Known as ADL; DAG2; 50DAG; DMDA2; LGMD2D; LGMDR3; SCARMD1; adhalin

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 6442

About SGCA

Cytogenetic location: 17q21.33 Genomic coordinates (GRCh38): 17:50,166,005-50,175,928 (from NCBI)

This gene has 15 transcripts (splice variants), 183 orthologues, 1 paralogue and is associated with 2 phenotypes. Biased expression in heart (RPKM 27.1), esophagus (RPKM 7.1) and 11 other tissues.

Summary

This gene encodes a component of the dystrophin-glycoprotein complex (DGC), which is critical to the stability of muscle fiber membranes and to the linking of the actin Cytoskeleton to the extracellular matrix. Its expression is thought to be restricted to striated muscle. Mutations in this gene result in type 2D autosomal recessive limb-girdle muscular dystrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]

SGCA Products (2)

mRNA Protein Name
NM_000023.4 NP_000014.1 alpha-sarcoglycan isoform 1 precursor
NM_001135697.3 NP_001129169.1 alpha-sarcoglycan isoform 2 precursor
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
21516116 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

SGCA Protein Structure

Sarcoglycan_2

Sarcoglycan_2: Sarcoglycan alpha/epsilon (8 - 387)

  • 0
  • 100
  • 200
  • 300
  • 387 a.a.
Protein Preferred Names Protein Names

alpha-sarcoglycan

  • 50 kDa dystrophin-associated glycoprotein

SGCA Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
SGCA Q16586 TGFBR2 Homo sapiens P37173 32814053
Intra
SGCA Q16586 TGFBR2 Homo sapiens P37173 32814053
Intra
SGCA Q16586 TGFBR2 Homo sapiens P37173 32814053
Intra
SGCA Q16586 SGTA Homo sapiens O43765 26871637
Intra
SGCA Q16586 SGTA Homo sapiens O43765 26871637
Intra
SGCA Q16586 SGTA Homo sapiens O43765 32296183
Intra
SGCA Q16586 SGTA Homo sapiens O43765 25416956
Intra
SGCA Q16586 SGTA Homo sapiens O43765
Y2H
21516116
Intra
SGCA Q16586 SGTA Homo sapiens O43765 32296183
Intra
SGCA Q16586 SGTA Homo sapiens O43765 25910212
Intra
SGCA Q16586 SGTA Homo sapiens O43765 26871637
Intra
SGCA Q16586 SGTA Homo sapiens O43765 25910212
Intra
SGCA Q16586 SGTA Homo sapiens O43765 25910212
Intra
SGCA Q16586 SGTB Homo sapiens Q96EQ0 32296183
Intra
SGCA Q16586 SGTB Homo sapiens Q96EQ0 32296183
Intra
SGCA Q16586 SGTB Homo sapiens Q96EQ0 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

SGCA Antibodies

Cat. No. Product Name Application Reactivity
HY-P82323 alpha Sarcoglycan Antibody (YA2068) WB, IHC-P, IP Human, Mouse, Rat
HY-P82323A alpha Sarcoglycan Antibody (YA2068)(PBS only) WB, IHC-P, IP Human, Mouse, Rat

Related Diseases

Diseases Alias
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
  • Lgmd2d

  • Muscular Dystrophy, Limb-Girdle, Type 2d

  • Dmda2

  • LGMDR3

  • Duchenne-Like Autosomal Recessive Muscular Dystrophy, Type 2

  • Adhalinopathy, Primary

  • Alpha-Sarcoglycanopathy

  • Severe Childhood Autosomal Recessive Muscular Dystrophy

  • Limb-Girdle Muscular Dystrophy, Type 2d

  • Muscular Dystrophy Limb-Girdle With Alpha-Sarcoglycan

  • Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3

  • Alpha-Sarcoglycan-Related Lgmd R3

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d

  • Lgmd Due To Alpha-Sarcoglycan Deficiency

  • Lgmd Type 2d

  • Limb-Girdle Muscular Dystrophy Due To Alpha-Sarcoglycan Deficiency

  • Limb-Girdle Muscular Dystrophy Type 2d

  • Adhalinopathy Primary

  • Duchenne-Like Muscular Dystrophy Autosomal Recessive Type 2

  • Limb-Girdle Muscular Dystrophy 2d

  • Scarmd

  • Dystrophy, Muscular, Limb-Girdle, Type 2d

  • Alpha-Sarcoglycanopathies

  • Severe Autosomal Recessive Muscular Dystrophy Of Childhood - North African Type

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d
  • Alpha-Sarcoglycanopathy

  • Dmda2

  • Duchenne-Like Autosomal Recessive Muscular Dystrophy Type 2

  • Lgmd2d

  • Muscular Dystrophy, Limb-Girdle, Type 2d

  • Primary Adhalinopathy

Qualitative Or Quantitative Defects Of Sarcoglycan
  • Sarcoglycanopathy

Autosomal Recessive Limb-Girdle Muscular Dystrophy
  • Muscular Dystrophy, Limb-Girdle, Autosomal Recessive

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

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

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

Cardiomyopathy, Dilated, 3b
  • Dilated Cardiomyopathy 3b

  • CMD3B

  • X-Linked Dilated Cardiomyopathy

  • Xlcm

  • Dmd-Associated Dilated Cardiomyopathy

  • Cardiomyopathy, Dilated, X-Linked

  • Dmd-Related Dilated Cardiomyopathy

  • Xldc

  • Cardiomyopathy, Dilated, X-Linked 3b

  • Cardiomyopathy, Dilated, Type 3b

Muscular Dystrophy, Becker Type
  • Becker Muscular Dystrophy

  • BMD

  • Benign Pseudohypertrophic Muscular Dystrophy

  • Benign Congenital Myopathy

  • Becker Dystrophinopathy

  • Becker'S Muscular Dystrophy

  • Muscular Dystrophy, Pseudohypertrophic Progressive, Becker Type

  • Muscular Dystrophy Pseudohypertrophic Progressive, Becker Type

  • Muscular Dystrophy Becker

  • Dystrophy, Muscular, Becker Type

  • Dystrophinopathy

  • Becker Dystrophy

  • Becker Type Dystrophy

  • Bmd - [Becker Muscular Dystrophy]

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
  • Lgmd2e

  • Muscular Dystrophy, Limb-Girdle, Type 2e

  • LGMDR4

  • Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e

  • Beta-Sarcoglycan-Related Lgmd R4

  • Beta-Sarcoglycanopathy

  • Lgmd Due To Beta-Sarcoglycan Deficiency

  • Lgmd Type 2e

  • Limb-Girdle Muscular Dystrophy Due To Beta-Sarcoglycan Deficiency

  • Limb-Girdle Muscular Dystrophy Type 2e

  • Limb-Girdle Muscular Dystrophy 2e

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c
  • Autosomal Recessive Duchenne-Like Muscular Dystrophy Type 1

  • Deficiency Of Sarcoglycan Gamma

  • Dmda1

  • Gamma-Sarcoglycanopathy

  • Lgmd2c

  • Limb-Girdle Muscular Dystrophy Due To Gamma-Sarcoglycan Deficiency

  • Maghrebian Myopathy

  • Muscular Dystrophy, Limb-Girdle, Type 2c

  • Scarmd

  • Severe Childhood Autosomal Recessive Muscular Dystrophy North African Type

Walker-Warburg Syndrome
  • Hard Syndrome

  • Walker-Warburg Congenital Muscular Dystrophy

  • Cerebroocular Dysplasia-Muscular Dystrophy Syndrome

  • Cod-Md Syndrome

  • Chemke Syndrome

  • Hydrocephalus, Agyria And Retinal Dysplasia

  • Cerebroocular Dysgenesis

  • Cerebroocular Dysplasia Muscular Dystrophy Syndrome

  • Hard +/- E Syndrome

  • Pagon Syndrome

  • Warburg Syndrome

  • Hydrocephalus, Agyria, And Retinal Dysplasia

  • Mddga

  • Muscular Dystrophy-Dystroglycanopathy , Type A

  • Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A

  • Hydrocephalus-Agyria-Retinal Dysplasia Syndrome

  • Wws

  • Dystrophy, Muscular, Dystroglycanopathy, Type A

Dilated Cardiomyopathy 1t
  • Cmd1t

  • Cardiomyopathy, Dilated, 1t

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f
  • Delta-Sarcoglycanopathy

  • Lgmd2f

  • Limb-Girdle Muscular Dystrophy Due To Delta-Sarcoglycan Deficiency

  • Limb-Girdle Muscular Dystrophy Type 2f

Myopathy
  • Muscular Diseases

  • Myopathies

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b
  • Lgmd2b

  • Lgmd3

  • Limb-Girdle Muscular Dystrophy Due To Dysferlin Deficiency

  • Limb-Girdle Muscular Dystrophy Type 3

  • Muscular Dystrophy, Limb-Girdle, Type 2b

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6
  • Lgmd2f

  • Muscular Dystrophy, Limb-Girdle, Type 2f

  • Limb-Girdle Muscular Dystrophy Type 2f

  • LGMDR6

  • Muscular Dystrophy Limb-Girdle With Delta-Sarcoglyan Deficiency

  • Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f

  • Delta-Sarcoglycan-Related Lgmd R6

  • Delta-Sarcoglycanopathy

  • Lgmd Due To Delta-Sarcoglycan Deficiency

  • Lgmd Type 2f

  • Limb-Girdle Muscular Dystrophy Due To Delta-Sarcoglycan Deficiency

  • Limb-Girdle Muscular Dystrophy 2f

  • Limb-Girdle Muscular Dystrophy, Type 2f

  • Dystrophy, Muscular, Limb-Girdle, Type 2f

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a
  • Leyden-Moebius Muscular Dystrophy

  • Lgmd2a

  • Limb-Girdle Muscular Dystrophy Due To Calpain Deficiency

  • Muscular Dystrophy, Limb-Girdle, Type 2a

  • Pelvofemoral Muscular Dystrophy

  • Primary Calpainopathy

Miyoshi Muscular Dystrophy
  • Distal Myopathy

  • Distal Muscular Dystrophy

  • Miyoshi Myopathy

  • Distal Myopathies

  • Dystrophy, Muscular, Miyoshi

  • Myopathy, Distal

  • Distal Muscular Dystrophies

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

Muscular Dystrophy, Congenital Merosin-Deficient, 1a
  • MDC1A

  • Lama2-Related Muscular Dystrophy

  • Atrophie Blanche

  • Muscular Dystrophy, Congenital Merosin-Deficient

  • Congenital Merosin-Deficient Muscular Dystrophy 1a

  • Merosin-Negative Congenital Muscular Dystrophy

  • Muscular Dystrophy White Matter Spongiosis

  • Merosin Deficient Congenital Muscular Dystrophy

  • Muscular Dystrophy Congenital, Merosin Negative

  • Muscular Dystrophy, Congenital, Merosin Deficient Or Partially Deficient

  • Cmd1a

  • Congenital Muscular Dystrophy Due To Laminin Alpha2 Deficiency

  • Congenital Muscular Dystrophy Type 1a

  • Laminin Alpha-2 Deficiency

  • Merosin-Deficient Congenital Muscular Dystrophy

  • Muscular Dystrophy, Congenital, Merosin-Deficient

  • Lama2 Md

  • Laminin Alpha 2 Deficiency

  • Laminin Alpha-2 Deficient Muscular Dystrophy

  • Merosin-Deficient Muscular Dystrophy

  • Muscular Dystrophy Due To Lama2 Deficiency

  • Merosin-Deficient Congenital Muscular Dystrophy 1a

  • Cardiomyopathy, Familial Idiopathic

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q
  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Due To Plectin Deficiency

  • Lgmd2q

  • Muscular Dystrophy, Limb-Girdle, Type 2q

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

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j
  • Lgmd2j

  • Muscular Dystrophy, Limb-Girdle, Type 2j

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l
  • Lgmd2l

  • Muscular Dystrophy, Limb-Girdle, Type 2l

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g
  • Lgmd2g

  • Limb-Girdle Muscular Dystrophy Due To Telethonin Deficiency

  • Muscular Dystrophy, Limb-Girdle, Type 2g

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

Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
  • Muscular Dystrophy, Limb-Girdle, Type 1f

  • Lgmd1f

  • Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1f

  • LGMDD2

  • Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 2

  • Muscular Dystrophy Limb-Girdle Type 1f

  • Tnp03-Related Limb-Girdle Muscular Dystrophy D2

  • Lgmd Type 1f

  • Limb-Girdle Muscular Dystrophy Type 1f

  • Limb-Girdle Muscular Dystrophy 1f

  • Dystrophy, Muscular, Limb-Girdle, Type 1f

Muscular Dystrophy-Dystroglycanopathy , Type C, 5
  • Lgmd2i

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2i

  • MDDGC5

  • Limb-Girdle Muscular Dystrophy Due To Fkrp Deficiency

  • Limb-Girdle Muscular Dystrophy Type 2i

  • Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 9

  • Lgmdr9

  • Muscular Dystrophy, Limb-Girdle, Type 2i

  • Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Frkp-Related

  • Fkrp-Related Limb-Girdle Muscular Dystrophy R9

  • Fkrp-Related Lgmd R9

  • Lgmd Due To Fkrp Deficiency

  • Lgmd Type 2i

  • Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Frkp-Related

  • Muscular Dystrophy Limb-Girdle Type 2i

  • Muscular Dystrophy-Dystroglycanopathy Type C 5

  • Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C5

  • Dystrophy, Muscular, Limb-Girdle, Type 2i

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h
  • Lgmd2h

  • Limb-Girdle Muscular Dystrophy Due To Trim32 Deficiency

  • Muscular Dystrophy Hutterite Type

  • Sarcotubular Myopathy

  • Limb-Girdle Muscular Dystrophy Type 2h

Autosomal Dominant Limb-Girdle Muscular Dystrophy
  • Muscular Dystrophy, Limb-Girdle, Autosomal Dominant

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

Muscle Eye Brain Disease
  • Muscle-Eye-Brain Disease

  • Muscle-Eye-Brain Syndrome

  • Meb

  • Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A3

  • Meb Syndrome

  • Santavuori Congenital Muscular Dystrophy

Muscle Tissue Disease
Myasthenic Syndrome, Congenital, 15
  • Congenital Myasthenic Syndrome 15

  • CMS15

  • Myasthenic Syndrome, Congenital, Without Tubular Aggregates

  • Cmswta

  • Myasthenic Syndrome, Congenital, 15, Without Tubular Aggregates

  • Congenital Myasthenic Syndrome 15 Without Tubular Aggregates

  • Myasthenic Syndrome, Congenital, Type 15, Without Tubular Aggregates

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, 1g
  • Dilated Cardiomyopathy 1g

  • CMD1G

  • Cardiomyopathy, Dilated 1g

  • Cardiomyopathy, Dilated, Type 1g

Facioscapulohumeral Muscular Dystrophy 1
  • Facioscapulohumeral Muscular Dystrophy

  • Fshd

  • Landouzy-Dejerine Muscular Dystrophy

  • Muscular Dystrophy, Facioscapulohumeral

  • FSHD1

  • Fshd1a

  • Muscular Dystrophy, Facioscapulohumeral, Type 1a

  • Facioscapulohumeral Muscular Dystrophy Type 1a

  • Fsh Muscular Dystrophy

  • Facioscapulohumeral Muscular Dystrophy 1a

  • Facioscapulohumeral Atrophy

  • Facioscapulohumeral Myopathy

  • Muscular Dystrophy, Facioscapulohumeral, Type 1

  • Facioscapulohumeral Muscular Dystrophy Type 1

  • Landouzy Dejerine Muscular Dystrophy

  • Muscular Dystrophy, Landouzy-Dejerine

  • Fshmd1a

  • Facio-Scapulo-Humeral Dystrophy

  • Facioscapulohumeral Type Progressive Muscular Dystrophy

  • Facioscapuloperoneal Muscular Dystrophy

  • Facioscapulohumeral Dystrophy

  • Fsh Dystrophy

  • Landouzy-Dejerine Dystrophy

  • Landouzy-Dejerine Myopathy

  • Fmd

  • Facioscapulohumeral Muscular Dystrophy-1a

  • Muscular Dystrophy Facioscapulohumeral

  • Dystrophy, Muscular, Facioscapulohumeral

  • Dystrophy, Muscular, Facioscapulohumeral, Type 1

  • Landouzy-Dejerine Disease

  • Landouzy-Déjerine Atrophy

  • Facioscapulohumeral Muscle Dystrophy

  • Fmd - [Facioscapulohumeral Muscular Dystrophy]

  • Fsh - [Facioscapulohumeral Muscular Dystrophy]

  • Fshd - [Facioscapulohumeral Muscular Dystrophy]

  • Landouzy-Déjerine Dystrophy Or Facioscapulohumeral Atrophy

  • Landouzy-Déjérine Muscular Dystrophy

Miyoshi Muscular Dystrophy 3
  • MMD3

  • Miyoshi Myopathy 3

  • Distal Anoctaminopathy

  • Miyoshi Muscular Dystrophy Type 3

  • Dystrophy, Muscular, Miyoshi, Type 3

Muscular Dystrophy-Dystroglycanopathy , Type C, 3
  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2o

  • MDDGC3

  • Lgmd2o

  • Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 15

  • Lgmdr15

  • Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Pomgnt1-Related

  • Muscular Dystrophy, Limb-Girdle, Type 2o

  • Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Pomgnt1-Related

  • Muscular Dystrophy-Dystroglycanopathy Type C3

  • Pomgnt1-Related Limb-Girdle Muscular Dystrophy R15

  • Lgmd Type 2o

  • Limb-Girdle Muscular Dystrophy Type 2o

  • Pomgnt1-Related Lgmd R15

  • Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C3

  • Dystrophy, Muscular, Limb-Girdle, Type 2o

Muscular Disease
Myopathy, Distal, 4
  • Distal Myopathy With Posterior Leg And Anterior Hand Involvement

  • MPD4

  • Williams Distal Myopathy

  • Distal Muscular Dystrophy 4

  • Distal Abd-Filaminopathy

  • Distal Myopathy 4

  • Myopathy, Distal, Type 4

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x
  • Lgmd2x

  • Muscular Dystrophy, Limb-Girdle, Type 2x

Ullrich Congenital Muscular Dystrophy 1
  • Ullrich Congenital Muscular Dystrophy

  • Ullrich Disease

  • Ucmd

  • Ullrich Scleroatonic Muscular Dystrophy

  • Scleroatonic Muscular Dystrophy

  • UCMD1

  • Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 22

  • Lgmdr22

  • Muscular Dystrophy, Scleroatonic

  • Late Onset Scleroatonic Familial Myopathy

  • Congenital Muscular Dystrophy, Ullrich Type

Bethlem Myopathy 1
  • Bethlem Myopathy

  • Myopathy, Benign Congenital, With Contractures

  • Muscular Dystrophy, Benign Congenital

  • BTHLM1

  • Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 5

  • Lgmdd5

  • Benign Congenital Muscular Dystrophy

  • Benign Autosomal Dominant Myopathy

  • Myopathy, Bethlem

  • Myopathy, Bethlem, Type 1

Muscular Dystrophy-Dystroglycanopathy , Type A, 4
  • Fukuyama Congenital Muscular Dystrophy

  • Fcmd

  • MDDGA4

  • Fukuyama Type Congenital Muscular Dystrophy

  • Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Fktn-Related

  • Cerebromuscular Dystrophy, Fukuyama Type

  • Fukuyama Cmd

  • Fukuyama Muscular Dystrophy

  • Fukuyama Syndrome

  • Muscular Dystrophy, Congenital Progressive, With Mental Retardation

  • Muscular Dystrophy, Congenital, Fukuyama Type

  • Muscular Dystrophy, Congenital, With Central Nervous System Involvement

  • Polymicrogyria With Muscular Dystrophy

  • Congenital Muscular Dystrophy, Fukuyama Type

  • Fktn-Related Congenital Muscular Dystrophy

  • Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A4

  • Cerebromuscular Dystrophy Fukuyama Type

  • Congenital Muscular Dystrophy Fukuyama Type

  • Micropolygyria With Muscular Dystrophy

  • Muscle-Eye-Brain Disease Fktn-Related

  • Walker-Warburg Syndrome Fktn-Related

Congenital Muscular Dystrophy-Dystroglycanopathy Type A
  • Congenital Muscular Alpha-Dystroglycanopathy With Brain And Eye Anomalies

  • Mddga

  • Klissencephaly Type 2 With Muscular And Ocular Involvement

  • Lissencephaly Type 2 With Muscular And Ocular Involvement

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

Myopathy With Extrapyramidal Signs
  • Proximal Myopathy With Extrapyramidal Signs

  • MPXPS

  • Myopathy, With Extrapyramidal Signs

Isolated Elevated Serum Creatine Phosphokinase Levels
  • Elevated Serum Cpk

  • Idiopathic Hyperckemia

  • Isolated Hyperckemia

  • Elevated Serum Creatine Phosphokinase

  • H-Ck

  • Idiopathic Persistent Elevation Of Serum Creatine Kinase

Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
  • EDMD2

  • Autosomal Dominant Emery-Dreifuss Muscular Dystrophy

  • Emd2

  • Emery-Dreifuss Muscular Dystrophy, Autosomal Dominant

  • Scapuloilioperoneal Atrophy With Cardiopathy

  • Muscular Dystrophy With Early Contractures And Cardiomyopathy, Autosomal Dominant

  • Hauptmann-Thannhauser Muscular Dystrophy

  • Cardiomyopathy, Dilated, With Quadriceps Myopathy

  • Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 2

  • Muscular Dystrophy, Limb-Girdle, Type 1b

  • Muscular Dystrophy, Limb-Girdle, Type 1b, Formerly

  • Lgmd1b, Formerly

  • Muscular Dystrophy, Proximal, Type 1b, Formerly

  • Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b

  • Lgmd1b

  • Limb-Girdle Muscular Dystrophy 1b

  • Muscular Dystrophy, Proximal, Type 1b

  • Muscular Dystrophy With Early Contractures And Cardiomyopathy Autosomal Dominant

Rigid Spine Muscular Dystrophy 1
  • Rigid Spine Syndrome

  • RSMD1

  • Rss

  • Mdrs1

  • Eichsfeld Type Congenital Muscular Dystrophy

  • Desmin-Related Myopathy With Mallory Bodies

  • Classic Multiminicore Myopathy

  • Sepn1-Related Myopathy

  • Multicore Myopathy, Severe Classic Form

  • Minicore Myopathy, Severe Classic Form

  • Multiminicore Disease, Severe Classic Form

  • Muscular Dystrophy, Rigid Spine, 1

  • Classic Mmd

  • Classic Multiminicore Disease

  • Congenital Merosin-Positive Muscular Dystrophy With Early Spine Rigidity

  • Desmin-Related Myopathy With Mallory Body-Like Inclusions

  • Early-Onset Desmin-Related Myopathy

  • Myopathy, Sepn1-Related

  • Muscular Dystrophy, Congenital, Merosin-Positive, With Early Spine Rigidity

  • Muscular Dystrophy, Congenital, Eichsfeld Type

  • Severe Classic Form Minicore Myopathy

  • Severe Classic Form Multicore Myopathy

  • Severe Classic Form Multiminicore Disease

  • Desmin-Related Myopathies With Mallory Bodies

  • Muscular Dystrophy, Congenital, Merosin Positive With Early Spine Rigidity

  • Rigid Spine Muscular Dystrophy-1

  • Rigid Spine Congenital Muscular Dystrophy

  • Congenital Muscular Dystrophy Eichsfeld Type

  • Congenital Muscular Dystrophy Merosin-Positive With Early Spine Rigidity

  • Minicore Myopathy Severe Classic Form

  • Multicore Myopathy Severe Classic Form

  • Multiminicore Disease Severe Classic Form

  • Dystrophy, Muscular, Rigid Spine, Type 1

Emery-Dreifuss Muscular Dystrophy
  • Edmd

  • Emery-Dreifuss Syndrome

  • Muscular Dystrophy, Emery-Dreifuss

  • Humeroperoneal Neuromuscular Disease

  • Muscular Dystrophy, Tardive, Dreifuss-Emery Type, With Contractures

  • Scapuloperoneal Syndrome, X-Linked

  • Benign Scapuloperoneal Muscular Dystrophy With Early Contractures

  • Muscular Dystrophy, Emery-Dreifuss Type

  • Muscular Dystrophy Emery-Dreifuss

  • Dystrophy, Muscular, Emery-Dreifuss

  • Emd - [Emery-Dreifuss Muscular Dystrophy]

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]

Congenital Myasthenic Syndrome
  • Congenital Myasthenia

  • Congenital Myasthenic Syndromes

  • Cms

  • Myasthenic Syndromes, Congenital

  • Myasthenic Syndromes Congenital

  • Myasthenic Syndrome, Congenital

  • Congenital Myasthenic Syndrome Ib

  • Congenital And Developmental Myasthenia

  • Developmental Myasthenia

Neuromuscular Disease
  • Neuromuscular Diseases

  • Neuromuscular Disorders

  • Neuromuscular Disorder

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
Mus musculus SGCA MGD MGI:894698
Macaca mulatta SGCA VGNC VGNC:77191
Canis familiaris SGCA VGNC VGNC:46091
Felis catus SGCA VGNC VGNC:65074
Bos taurus SGCA VGNC VGNC:34535
Rattus norvegicus SGCA RGD RGD:1308062
Others SGCA NCBI