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:
2
Gene:
1
Variant:
2
Reference:
1
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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