FSHD
MCID: FCS001
MIFTS: 46

Facioscapulohumeral Muscular Dystrophy (FSHD) malady

Muscle category

Summaries for Facioscapulohumeral Muscular Dystrophy

Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 Facioscapulohumeral muscular dystrophy is a disorder characterized by muscle weakness and wasting (atrophy). this condition gets its name from the areas of the body that are affected most often: muscles in the face (facio-), around the shoulder blades (scapulo-), and in the upper arms (humeral). the signs and symptoms of facioscapulohumeral muscular dystrophy usually appear in adolescence. however, the onset and severity of the condition varies widely. facioscapulohumeral muscular dystrophy results from a deletion of genetic material from a region of dna known as d4z4. this region is located near one end of chromosome 4. it is inherited in an autosomal dominant pattern. last updated: 3/15/2013

MalaCards: Facioscapulohumeral Muscular Dystrophy, also known as facioscapulohumeral muscular dystrophy 1a, is related to facioscapulohumeral muscular dystrophy 1 and facioscapulohumeral muscular dystrophy 2. An important gene associated with Facioscapulohumeral Muscular Dystrophy is DUX4 (double homeobox 4). Affiliated tissues include cortex, heart and skeletal muscle.

Genetics Home Reference:21 Facioscapulohumeral muscular dystrophy is a disorder characterized by muscle weakness and wasting (atrophy). This condition gets its name from the areas of the body that are affected most often: muscles in the face (facio-), around the shoulder blades (scapulo-), and in the upper arms (humeral). The signs and symptoms of facioscapulohumeral muscular dystrophy usually appear in adolescence. However, the onset and severity of the condition varies widely. Milder cases may not become noticeable until later in life, whereas rare severe cases become apparent in infancy or early childhood.

Wikipedia:64 Facioscapulohumeral muscular dystrophy (sometimes switched as faciohumeroscapular) (FSHMD, FSHD or FSH),... more...

Description from OMIM:47 158900

GeneReviews summary for fsh

Aliases & Classifications for Facioscapulohumeral Muscular Dystrophy

Sources:
8Disease Ontology, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 45Novoseek, 61UMLS, 57SNOMED-CT, 40NCIt, 47OMIM, 35MeSH
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Muscle


Aliases & Descriptions:

facioscapulohumeral muscular dystrophy 8 19 43 20 22 21 10
facioscapulohumeral muscular dystrophy 1a 43 61
muscular dystrophy, facioscapulohumeral 21 61
landouzy-dejerine muscular dystrophy 8 43
fsh muscular dystrophy 19 21
fshd 43 21
facioscapulohumeral type progressive muscular dystrophy 21
facioscapuloperoneal muscular dystrophy 21
muscular dystrophy facioscapulohumeral 45
muscular dystrophy, landouzy dejerine 21
muscular dystrophy, landouzy-dejerine 8
landouzy dejerine muscular dystrophy 8
facio-scapulo-humeral dystrophy 21
facioscapulohumeral atrophy 21
landouzy-dejerine dystrophy 21
fshmd1a 43
fshd1a 43


External Ids:

Disease Ontology8 DOID:11727
NCIt40 C84704
SNOMED-CT57 399091004, 56096001
OMIM47 158900
MeSH35 D020391

Related Diseases for Facioscapulohumeral Muscular Dystrophy

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Facioscapulohumeral Muscular Dystrophy:



Diseases related to facioscapulohumeral muscular dystrophy

Clinical Features for Facioscapulohumeral Muscular Dystrophy

Sources:
47OMIM
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Clinical features from OMIM:

158900

Drugs & Therapeutics for Facioscapulohumeral Muscular Dystrophy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Facioscapulohumeral Muscular Dystrophy

Drug clinical trials:

Search ClinicalTrials for Facioscapulohumeral Muscular Dystrophy

Search NIH Clinical Center for Facioscapulohumeral Muscular Dystrophy

Search CenterWatch for Facioscapulohumeral Muscular Dystrophy

Genetic Tests for Facioscapulohumeral Muscular Dystrophy

Sources:
20GeneTests, 22GTR
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Genetic tests related to Facioscapulohumeral Muscular Dystrophy:

id Genetic test Affiliating Genes
1 Facioscapulohumeral Muscular Dystrophy20 22 DUX4

Anatomical Context for Facioscapulohumeral Muscular Dystrophy

Sources:
33MalaCards
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MalaCards organs/tissues related to Facioscapulohumeral Muscular Dystrophy:

33
Cortex, Heart, Skeletal muscle, Lung, Breast, T cells, Tongue

Animal Models for Facioscapulohumeral Muscular Dystrophy or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Facioscapulohumeral Muscular Dystrophy

Sources:
51PubMed
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Articles related to Facioscapulohumeral Muscular Dystrophy:

(show top 50)    (show all 362)
idTitleAuthorsYear
1
Sarcomeric dysfunction contributes to muscle weakness in facioscapulohumeral muscular dystrophy. (23365058)
2013
2
A rare case of facioscapulohumeral muscular dystrophy and myasthenia gravis. (24250856)
2012
3
Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled? (21984394)
2012
4
Treatment of facioscapulohumeral muscular dystrophy with Denosumab. (23569491)
2012
5
Facioscapulohumeral muscular dystrophy presenting with unusual phenotypes and atypical morphological features of vacuolar myopathy. (20146070)
2010
6
Facioscapulohumeral muscular dystrophy: do neurotrophins play a role? (19813193)
2010
7
Neuromuscular electrical stimulation training: a safe and effective treatment for facioscapulohumeral muscular dystrophy patients. (20434605)
2010
8
Heart rate variability in facioscapulohumeral muscular dystrophy. (21388582)
2010
9
Facioscapulohumeral muscular dystrophy: a prospective study of weakness and functional impairment. (20352247)
2010
10
Becker's muscular dystrophy aggravating facioscapulohumeral muscular dystrophy--double trouble as an explanation for an atypical phenotype. (18684626)
2008
11
Facioscapulohumeral muscular dystrophy: hearing loss and other atypical features of patients with large 4q35 deletions. (19049553)
2008
12
DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1. (17984056)
2007
13
Pregnancy and birth outcomes in women with facioscapulohumeral muscular dystrophy. (17130433)
2006
14
Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1. (16341202)
2006
15
Patient page. Exercise is safe and beneficial for people with facioscapulohumeral muscular dystrophy. (15781802)
2005
16
Recurrent somatic mosaicism for D4Z4 contractions in a family with facioscapulohumeral muscular dystrophy. (15935668)
2005
17
A severe case of facioscapulohumeral muscular dystrophy (FSHD) with some uncommon clinical features and a short 4q35 fragment. (15542386)
2004
18
Cytogenetic and immuno-FISH analysis of the 4q subtelomeric region, which is associated with facioscapulohumeral muscular dystrophy. (15138770)
2004
19
Changes in motor cortex excitability in facioscapulohumeral muscular dystrophy. (14659411)
2004
20
Pulse field gel electrophoresis for the detection of facioscapulohumeral muscular dystrophy gene rearrangements. (12491930)
2003
21
Epiphora as a presenting sign of facioscapulohumeral muscular dystrophy. (12691238)
2003
22
Testing the position-effect variegation hypothesis for facioscapulohumeral muscular dystrophy by analysis of histone modification and gene expression in subtelomeric 4q. (14506132)
2003
23
Clinical Studies in Non-chromosome 4-Linked Facioscapulohumeral Muscular Dystrophy. (19078645)
2001
24
Prenatal diagnosis for facioscapulohumeral muscular dystrophy (FSHD). (10521823)
1999
25
Response to vecuronium in a patient with facioscapulohumeral muscular dystrophy. (10655933)
1999
26
Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotype. (10360767)
1999
27
Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression. (9733041)
1998
28
Improved molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD): validation of the differential double digestion for FSHD. (9192267)
1997
29
Obstetric aspects in women with facioscapulohumeral muscular dystrophy, limb-girdle muscular dystrophy, and congenital myopathies. (9236578)
1997
30
Diagnostic, predictive, and prenatal testing for facioscapulohumeral muscular dystrophy: diagnostic approach for sporadic and familial cases. (8825045)
1996
31
Cloning and mapping of a very short (10-kb) EcoRI fragment associated with facioscapulohumeral muscular dystrophy (FSHD). (7739622)
1995
32
Program and symposium on the clinical and molecular genetic aspects of facioscapulohumeral muscular dystrophy. (23573579)
1995
33
Germinal mosaicism in facioscapulohumeral muscular dystrophy (FSHD). (7739625)
1995
34
Introduction: the expansion of clinical and molecular genetic knowledge in facioscapulohumeral muscular dystrophy (FSHD). (23573578)
1995
35
Affection of mimic muscles, simulating damage of the facial nerve in patients with facioscapulohumeral muscular dystrophy. (10774323)
1994
36
De novo facioscapulohumeral muscular dystrophy defined by DNA probe p13E-11 (D4F104S1). (7979495)
1994
37
Facioscapulohumeral muscular dystrophy in early childhood. (8155016)
1994
38
Genetics of facioscapulohumeral muscular dystrophy: new mutations in sporadic cases. (8232958)
1993
39
A radiation hybrid map of 15 loci on the distal long arm of chromosome 4, the region containing the gene responsible for facioscapulohumeral muscular dystrophy (FSHD). (8213815)
1993
40
Genetic mapping of human heart-skeletal muscle adenine nucleotide translocator and its relationship to the facioscapulohumeral muscular dystrophy locus. (8100217)
1993
41
Facioscapulohumeral muscular dystrophy defect identified. (1363882)
1992
42
Why cells die in facioscapulohumeral muscular dystrophy. (1320508)
1992
43
Social identity and the International Classification of Handicaps: an evaluation of the consequences of facioscapulohumeral muscular dystrophy. (1472696)
1992
44
Genetic counselling in facioscapulohumeral muscular dystrophy. (1941962)
1991
45
Facioscapulohumeral muscular dystrophy gene in Dutch families is not linked to markers for familial adenomatous polyposis on the long arm of chromosome 5. (2157824)
1990
46
Long-term follow-up of facioscapulohumeral muscular dystrophy and Coats' disease. (2240145)
1990
47
Linkage analysis of French families with facioscapulohumeral muscular dystrophy. (2769721)
1989
48
Creatine phosphokinase in facioscapulohumeral muscular dystrophy. (5567771)
1971
49
Restricted myositis with myoedema simulating facioscapulohumeral muscular dystrophy. (5535006)
1970
50
Neurogenic muscular atrophy simulating facioscapulohumeral muscular dystrophy with particular reference to the heterogeneity of Kugelberg-Welander disease. (5345117)
1969

Genetic Variations for Facioscapulohumeral Muscular Dystrophy

Expression for genes affiliated with Facioscapulohumeral Muscular Dystrophy

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Facioscapulohumeral Muscular Dystrophy

Search GEO for disease gene expression data for Facioscapulohumeral Muscular Dystrophy.

Pathways for genes affiliated with Facioscapulohumeral Muscular Dystrophy

Compounds for genes affiliated with Facioscapulohumeral Muscular Dystrophy

GO Terms for genes affiliated with Facioscapulohumeral Muscular Dystrophy

Sources:
16Gene Ontology
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Cellular components related to Facioscapulohumeral Muscular Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:0056349.3FRG2, DUX4L5, DUX4L7, DUX4L4, DUX4L9, DUX4

Biological processes related to Facioscapulohumeral Muscular Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcription, DNA-dependentGO:0063519.5DUX4L3, DUX4L6, DUX4L2, DUX4, DUX4L9, DUX4L4

Molecular functions related to Facioscapulohumeral Muscular Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA binding transcription factor activityGO:00370010.0DUX4L6, DUX4L9, DUX4L4, DUX2
2transcription regulatory region sequence-specific DNA bindingGO:0009769.2DUX4L3, DUX4L5, DUX4L7, DUX4L4, DUX4L9, DUX4

Products for genes affiliated with Facioscapulohumeral Muscular Dystrophy

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Sources for Facioscapulohumeral Muscular Dystrophy

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet