Disorder "Facioscapulohumeral dystrophy"
Found 2 records
Disorder information
Disorder name:
Facioscapulohumeral dystrophy 
Disoder ID:
OMIM entry:
Synonyms:
Facioscapulohumeral muscular dystrophy, muscular dystrophy, Landouzy-Dejerine, Landouzy-Dejerine myopathy, Facioscapulohumeral myopathy, facioscapulohumeral myopathy, facioscapulohumeral muscular dystrophy, FSH dystrophy, FSHD, Landouzy Dejerine muscular dystrophy, facioscapulohumeral dystrophy, Landouzy-Dejerine muscular dystrophy 
Definition:
Facioscapulohumeral muscular dystrophy (FSHD) is characterized by progressive muscle weakness with focal involvement of the facial, shoulder and limb muscles. 
Modifier statisitcs
Record:
Gene:
Variant:
Reference:
Effect type:
Penetrance(2)  
Modifier effect:
Altered incidence(2)  
Modifier gene Variant Effect type Modifier effect Evidence Effect PubMed ID
DNMT3B DNMT3B:c.1579T-C(p.C527R) Penetrance  Altered incidence  Pedigree analysis  Heterozygous mutations in DNA methyltransferase 3B (DNMT3B) are a likely cause of D4Z4 derepression associated with low levels of DUX4 expression from the D4Z4 repeat and increased penetrance of FSHD.more more
DNMT3B:rs889145646 Penetrance  Altered incidence  Pedigree analysis  Heterozygous mutations in DNA methyltransferase 3B (DNMT3B) are a likely cause of D4Z4 derepression associated with low levels of DUX4 expression from the D4Z4 repeat and increased penetrance of FSHD.more more
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