PhenoModifier-Disease Detail

Disorder "Facioscapulohumeral muscular dystrophy"

Found 2 records

Disorder information

Disorder name:

Facioscapulohumeral muscular dystrophy

Disoder ID:

Orphanet_269

OMIM entry:

OMIM:158901 ,OMIM:158900

Synonyms:

Landouzy Dejerine muscular dystrophy, Landouzy-Dejerine muscular dystrophy, Muscular dystrophy, Landouzy-Dejerine

Definition:

An autosomal dominant disorder affecting the skeletal muscles of the face, scapula, and upper arm. Patients present with muscle weakness in these anatomic areas. The muscle weakness eventually spreads to other skeletal muscles as well.

Modifier statisitcs

Record:

2

Gene:

1

Variant:

2

Reference:

1

Effect type:

Expressivity(2)

Modifier effect:

Altered gene activity(2)

Modifier gene	Variant	Effect type	Modifier effect	Evidence	Effect	PubMed ID
SMCHD1	SMCHD1:c.3048+2T>C	Expressivity	Altered gene activity	Pedigree analysis and gene activity study	FSHD1 allele without the SMCHD1 mutation were only mildly affectedmore	24075187 more
SMCHD1	SMCHD1:rs397518422	Expressivity	Altered gene activity	Pedigree analysis and gene activity study	FSHD1 allele without the SMCHD1 mutation were only mildly affectedmore	24075187 more

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