FSHD
MCID: FCS001
MIFTS: 47

Facioscapulohumeral Muscular Dystrophy (FSHD) malady

Muscle diseases category

Summaries for Facioscapulohumeral Muscular Dystrophy

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 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 muscular dystrophy and retinitis. An important gene associated with Facioscapulohumeral Muscular Dystrophy is DUX4 (double homeobox 4). Affiliated tissues include skeletal muscle, testes and heart.

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

Description from OMIM:46 158900

GeneReviews summary for fsh

Aliases & Classifications for Facioscapulohumeral Muscular Dystrophy

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8Disease Ontology, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 60UMLS, 44Novoseek, 56SNOMED-CT, 39NCIt, 46OMIM, 34MeSH
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Classifications:

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


Aliases & Descriptions:

facioscapulohumeral muscular dystrophy 8 19 42 20 22 21 10
facioscapulohumeral muscular dystrophy 1a 42 60
muscular dystrophy, facioscapulohumeral 21 60
landouzy-dejerine muscular dystrophy 8 42
fsh muscular dystrophy 19 21
fshd 42 21
facioscapulohumeral type progressive muscular dystrophy 21
facioscapuloperoneal muscular dystrophy 21
muscular dystrophy facioscapulohumeral 44
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 42
fshd1a 42


External Ids:

Disease Ontology8 DOID:11727
NCIt39 C84704
SNOMED-CT56 399091004, 56096001
OMIM46 158900
MeSH34 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

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46OMIM
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Clinical features from OMIM:

158900

Drugs & Therapeutics for Facioscapulohumeral Muscular Dystrophy

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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

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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

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32MalaCards
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MalaCards organs/tissues related to Facioscapulohumeral Muscular Dystrophy:

32
Skeletal muscle, Testes, Heart, Cortex, Lung, Breast, T cells, Tongue

Animal Models for Facioscapulohumeral Muscular Dystrophy or affiliated genes

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Publications for Facioscapulohumeral Muscular Dystrophy

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50PubMed
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Articles related to Facioscapulohumeral Muscular Dystrophy:

(show top 50)    (show all 358)
idTitleAuthorsYear
1
Telomere position effect regulates DUX4 in human facioscapulohumeral muscular dystrophy. (23644600)
2013
2
Symptom Burden in Persons with Myotonic and Facioscapulohumeral Muscular Dystrophy. (24247759)
2013
3
Expression of DUX4 in zebrafish development recapitulates facioscapulohumeral muscular dystrophy. (23108159)
2013
4
Atypical onset in a series of 122 cases with FacioScapuloHumeral Muscular Dystrophy. (22079131)
2012
5
Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis. (22798623)
2012
6
Compound heterozygosity in a South African patient with facioscapulohumeral muscular dystrophy. (22652079)
2012
7
Correlation between muscle involvement, phenotype and D4Z4 fragment size in facioscapulohumeral muscular dystrophy. (22153988)
2012
8
A unique library of myogenic cells from facioscapulohumeral muscular dystrophy subjects and unaffected relatives: family, disease and cell function. (22108603)
2012
9
Genetic counseling and testing for FSHD (facioscapulohumeral muscular dystrophy) in the Israeli population. (22109111)
2012
10
DUX4, a candidate gene for facioscapulohumeral muscular dystrophy, causes p53-dependent myopathy in vivo. (21446026)
2011
11
Subclinical facioscapulohumeral muscular dystrophy masquerading as bilateral Coats disease in a woman. (21670353)
2011
12
AAV6-mediated systemic shRNA delivery reverses disease in a mouse model of facioscapulohumeral muscular dystrophy. (21829175)
2011
13
Retinal vascular disease and the pathogenesis of facioscapulohumeral muscular dystrophy. A signalling message from Wnt? (21377364)
2011
14
Decreased nocturnal movements in patients with facioscapulohumeral muscular dystrophy. (20572422)
2010
15
Probabilistic muscle characterization using quantitative electromyography: application to facioscapulohumeral muscular dystrophy. (20740628)
2010
16
Clinical features of facioscapulohumeral muscular dystrophy 2. (20975055)
2010
17
Facioscapulohumeral muscular dystrophy. (19724227)
2009
18
Transcriptional regulation differs in affected facioscapulohumeral muscular dystrophy patients compared to asymptomatic related carriers. (19339494)
2009
19
Facioscapulohumeral muscular dystrophy. (19019312)
2008
20
Pushing the genetic frontier with facioscapulohumeral muscular dystrophy. (17310022)
2007
21
Abnormal expression of mu-crystallin in facioscapulohumeral muscular dystrophy. (17451686)
2007
22
Pilot trial of diltiazem in facioscapulohumeral muscular dystrophy. (17452589)
2007
23
Facioscapulohumeral muscular dystrophy. (16837171)
2007
24
Diagnostic challenges in facioscapulohumeral muscular dystrophy. (17060574)
2006
25
Community use of a pushrim activated power-assisted wheelchair by an individual with facioscapulohumeral muscular dystrophy. (16920679)
2006
26
Facioscapulohumeral muscular dystrophy type 1A in northwestern Tuscany: a molecular genetics-based epidemiological and genotype-phenotype study. (15857184)
2005
27
The Clinical Features of Facioscapulohumeral Muscular Dystrophy Associated With Borderline (>/=35 kb) 4q35 EcoRI Fragments. (19078760)
2005
28
Facioscapulohumeral muscular dystrophy presenting as shoulder pain in a baseball player. (16171643)
2005
29
An unusual family with Leber's hereditary optic neuropathy and facioscapulohumeral muscular dystrophy. (15804271)
2005
30
Subclinical cardiac involvement in patients with facioscapulohumeral muscular dystrophy. (15907286)
2005
31
Drug treatment for facioscapulohumeral muscular dystrophy. (15106171)
2004
32
Concurrence of facioscapulohumeral muscular dystrophy and myasthenia gravis. (15389657)
2004
33
Inheritance of a 38-kb fragment in apparently sporadic facioscapulohumeral muscular dystrophy. (10487912)
1999
34
Scapulothoracic arthrodesis for patients with facioscapulohumeral muscular dystrophy. (10093065)
1998
35
The devastating combination of Charcot-Marie-Tooth disease and facioscapulohumeral muscular dystrophy. (9585333)
1998
36
A prospective, quantitative study of the natural history of facioscapulohumeral muscular dystrophy (FSHD): implications for therapeutic trials. The FSH-DY Group. (9008491)
1997
37
On the significance of retinal vascular disease and hearing loss in facioscapulohumeral muscular dystrophy. (7739630)
1995
38
Physical mapping evidence for a duplicated region on chromosome 10qter showing high homology with the facioscapulohumeral muscular dystrophy locus on chromosome 4qter. (7583041)
1995
39
On the significance of retinal vascular disease and hearing loss in facioscapulohumeral muscular dystrophy. (23573590)
1995
40
The DNA rearrangement associated with facioscapulohumeral muscular dystrophy involves a heterochromatin-associated repetitive element: implications for a role of chromatin structure in the pathogenesis of the disease. (8069466)
1994
41
Chromosome 4q DNA rearrangement in monozygotic twins discordant for facioscapulohumeral muscular dystrophy. (8111417)
1993
42
The human skeletal muscle adenine nucleotide translocator gene maps to chromosome 4q35 in the region of the facioscapulohumeral muscular dystrophy locus. (8103757)
1993
43
Mapping the facioscapulohumeral muscular dystrophy gene is complicated by chromsome 4q35 recombination events. (8102297)
1993
44
Facioscapulohumeral Muscular Dystrophy (20301616)
1993
45
Severe visual loss associated with retinal telangiectasis and facioscapulohumeral muscular dystrophy. (1505769)
1992
46
Linkage studies in facioscapulohumeral muscular dystrophy (FSHD). (1642241)
1992
47
Facioscapulohumeral muscular dystrophy: evidence for selective, genetic electrophysiologic cardiac involvement. (2299071)
1990
48
Estimation of age dependent penetrance in facioscapulohumeral muscular dystrophy by minimising ascertainment bias. (2614794)
1989
49
Anaesthetic management of a patient with facioscapulohumeral muscular dystrophy. (2930676)
1989
50
Abnormal protein synthesis in facioscapulohumeral muscular dystrophy. (4675677)
1972

Genetic Variations for Facioscapulohumeral Muscular Dystrophy

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Expression for genes affiliated with Facioscapulohumeral Muscular Dystrophy

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

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Pathways for genes affiliated with Facioscapulohumeral Muscular Dystrophy

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Compounds for genes affiliated with Facioscapulohumeral Muscular Dystrophy

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GO Terms for genes affiliated with Facioscapulohumeral Muscular Dystrophy

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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

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
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