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, 44Novoseek, 60UMLS, 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:

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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
Predicting hearing loss in facioscapulohumeral muscular dystrophy. (24042094)
2013
2
Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity. (21984748)
2012
3
Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling. (22217918)
2012
4
Recommendations for the management of facioscapulohumeral muscular dystrophy in 2011. (22551571)
2012
5
Mesoangioblasts from facioscapulohumeral muscular dystrophy display in vivo a variable myogenic ability predictable by their in vitro behavior. (21176400)
2011
6
CD8(+) T cells in facioscapulohumeral muscular dystrophy patients with inflammatory features at muscle MRI. (21063901)
2011
7
Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence. (21288772)
2011
8
Facioscapulohumeral muscular dystrophy (FSHD) region gene 1 (FRG1) is a dynamic nuclear and sarcomeric protein. (20970242)
2011
9
Socioeconomic burden of amyotrophic lateral sclerosis, myasthenia gravis and facioscapulohumeral muscular dystrophy. (19629566)
2010
10
Neuromuscular electrical stimulation training: a safe and effective treatment for facioscapulohumeral muscular dystrophy patients. (20434605)
2010
11
Heart rate variability in facioscapulohumeral muscular dystrophy. (21388582)
2010
12
Facioscapulohumeral muscular dystrophy: a prospective study of weakness and functional impairment. (20352247)
2010
13
Quality of life and pain in patients with facioscapulohumeral muscular dystrophy. (19609906)
2009
14
Teaching NeuroImages: Hemiatrophy as a clinical presentation in facioscapulohumeral muscular dystrophy. (19652136)
2009
15
Epigenetics in facioscapulohumeral muscular dystrophy (FSHD). (19787630)
2009
16
Evolutionary conservation of a coding function for D4Z4, the tandem DNA repeat mutated in facioscapulohumeral muscular dystrophy. (17668377)
2007
17
A large patient study confirming that facioscapulohumeral muscular dystrophy (FSHD) disease expression is almost exclusively associated with an FSHD locus located on a 4qA-defined 4qter subtelomere. (16987949)
2007
18
Facioscapulohumeral muscular dystrophy. A quantitative electromyographic study. (17557650)
2007
19
Leg muscle involvement in facioscapulohumeral muscular dystrophy assessed by MRI. (16773269)
2006
20
Pregnancy and birth outcomes in women with facioscapulohumeral muscular dystrophy. (17130433)
2006
21
Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1. (16341202)
2006
22
Ventilatory support in facioscapulohumeral muscular dystrophy. (15668464)
2005
23
Aerobic training improves exercise performance in facioscapulohumeral muscular dystrophy. (15781829)
2005
24
Mechanism and timing of mitotic rearrangements in the subtelomeric D4Z4 repeat involved in facioscapulohumeral muscular dystrophy. (15154112)
2004
25
Rimmed vacuoles in facioscapulohumeral muscular dystrophy: a unique ultrastructural feature. (15221332)
2004
26
Homozygosity for autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) does not result in a more severe phenotype. (14757867)
2004
27
Changes in motor cortex excitability in facioscapulohumeral muscular dystrophy. (14659411)
2004
28
Epiphora as a presenting sign of facioscapulohumeral muscular dystrophy. (12691238)
2003
29
Testing the position-effect variegation hypothesis for facioscapulohumeral muscular dystrophy by analysis of histone modification and gene expression in subtelomeric 4q. (14506132)
2003
30
Clinical Studies in Non-chromosome 4-Linked Facioscapulohumeral Muscular Dystrophy. (19078645)
2001
31
The effect of motor learning in facioscapulohumeral muscular dystrophy patients. (11192064)
2000
32
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
33
Pilot trial of albuterol in facioscapulohumeral muscular dystrophy. FSH-DY Group. (9595995)
1998
34
Inter- and intrachromosomal sub-telomeric rearrangements on 4q35: implications for facioscapulohumeral muscular dystrophy (FSHD) aetiology and diagnosis. (9668160)
1998
35
Molecular genetics of facioscapulohumeral muscular dystrophy (FSHD). (9132141)
1997
36
Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy (FSHD). (8733043)
1996
37
Facioscapulohumeral muscular dystrophy in the Dutch population. (23573591)
1995
38
Towards the finer mapping of facioscapulohumeral muscular dystrophy at 4q35: construction of a laser microdissection library. (7573180)
1995
39
Cloning and mapping of a very short (10-kb) EcoRI fragment associated with facioscapulohumeral muscular dystrophy (FSHD). (23573583)
1995
40
Early onset facioscapulohumeral muscular dystrophy. (7739629)
1995
41
Efforts toward understanding the molecular basis of facioscapulohumeral muscular dystrophy. (7739623)
1995
42
Germinal mosaicism in facioscapulohumeral muscular dystrophy (FSHD). (7739625)
1995
43
Facioscapulohumeral muscular dystrophy in early childhood. (8155016)
1994
44
Report of the sixth International Workshop on Facioscapulohumeral Muscular Dystrophy: San Francisco, 11 November 1992; and current guidelines for clinical application of DNA rearrangements at locus D4S810. Muscular Dystrophy Group of America. (8173356)
1994
45
Genetic mapping of facioscapulohumeral muscular dystrophy. (8111536)
1993
46
Facioscapulohumeral muscular dystrophy: aspects of genetic counselling, acceptance of preclinical diagnosis, and fitness. (8411033)
1993
47
Regional mapping of facioscapulohumeral muscular dystrophy gene on 4q35: combined analysis of an international consortium. (1642237)
1992
48
Erythrocyte calcium transport in myotonic and facioscapulohumeral muscular dystrophy. (6493506)
1984
49
Linkage studies in autosomal dominant facioscapulohumeral muscular dystrophy. (6593433)
1984
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

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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
61UMLS via Orphanet