GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version
Facioscapulohumeral Muscular Dystrophy  
Disease Aliases (25)

Facioscapulohumeral dystrophy with sensorineural hearing loss and tortuosity of retinal arterioles

Facioscapulohumeral muscular dystrophy

Facioscapulohumeral muscular dystrophy, infantile

Fmd

Frg1 facioscapulohumeral muscular dystrophy

Fsh dystrophy

Fshd

Fshd1

Fshd1a

Fshmd1a

Facioscapulohumeral muscular dystrophy 1a

Facioscapulohumeral myopathy

Landouzy-dejerine muscular dystrophy

Landouzy-dejerine dystrophy

Landouzy-dejerine muscular dystrophy facioscapulohumeral muscular dystrophy, infantile, included

Landouzy-dejerine myopathy

Muscular dystrophy, facioscapulohumeral, type 1

Muscular dystrophy, facioscapulohumeral, type 1a

Muscular dystrophy, facioscapulohumeral

Facioscapulohumeral dystrophy with sensorineural hearing loss and tortuosity of retinal arterioles, included

Facioscapulohumeral muscular dystrophy 1

Facioscapulohumeral muscular dystrophy 1; fshd1

Facioscapulohumeral muscular dystrophy caused by mutation in frg1

Facioscapulohumeral muscular dystrophy type 1

Facioscapulohumeral muscular dystrophy type 1a

Associated Genes (5)
 

NCBI-RefSeq:  DNMT3B   (DNA methyltransferase 3 beta)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  DUX4   (Double homeobox 4)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  FRG1   (FSHD region gene 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  DUX4L1   (Double homeobox 4 like 1 (pseudogene))

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  SMCHD1   (Structural maintenance of chromosomes flexible hinge domain containing 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Facioscapulohumeral muscular dystrophy OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations