FSHD
MCID: FCS001
MIFTS: 45

Facioscapulohumeral Muscular Dystrophy (FSHD) malady

Genetic diseases, Rare diseases, Muscle diseases categories
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Summaries for Facioscapulohumeral Muscular Dystrophy

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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 based summary: Facioscapulohumeral Muscular Dystrophy, also known as muscular dystrophy, facioscapulohumeral, 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 muscles that are affected most often: those of 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:65 Facioscapulohumeral muscular dystrophy (FSHMD, FSHD or FSH), which was originally named... more...

Description from OMIM:46 158900

GeneReviews summary for fsh

Aliases & Classifications for Facioscapulohumeral Muscular Dystrophy

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Facioscapulohumeral Muscular Dystrophy, Aliases & Descriptions:

Name: Facioscapulohumeral Muscular Dystrophy 30 8 19 42 21 10
Muscular Dystrophy, Facioscapulohumeral 42 20 22 21 62
Fsh Muscular Dystrophy 19 21 62
Facioscapulohumeral Muscular Dystrophy 1a 42 62
Facioscapuloperoneal Muscular Dystrophy 21 62
Landouzy-Dejerine Muscular Dystrophy 8 42
Facio-Scapulo-Humeral Dystrophy 21 62
Fshd 42 21
Progressive Muscular Dystrophy, Facioscapulohumeral Type 62
 
Facioscapulohumeral Type Progressive Muscular Dystrophy 21
Muscular Dystrophy, Facioscapulohumeral, Type 1a 42
Muscular Dystrophy Facioscapulohumeral 44
Muscular Dystrophy, Landouzy-Dejerine 8
Landouzy Dejerine Muscular Dystrophy 8
Facioscapulohumeral Atrophy 21
Fshmd1a 42
Fshd1a 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Muscle diseases


External Ids:

Disease Ontology8 DOID:11727
OMIM46 158900
SNOMED-CT57 56096001, 399091004
MeSH34 D020391
NCIt39 C84704

Related Diseases for Facioscapulohumeral Muscular Dystrophy

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Graphical network of the top 20 diseases related to Facioscapulohumeral Muscular Dystrophy:



Diseases related to facioscapulohumeral muscular dystrophy

Symptoms for Facioscapulohumeral Muscular Dystrophy

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Clinical features from OMIM:

158900

Drugs & Therapeutics for Facioscapulohumeral Muscular Dystrophy

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Drug clinical trials:

Search ClinicalTrials for Facioscapulohumeral Muscular Dystrophy

Search NIH Clinical Center for Facioscapulohumeral Muscular Dystrophy

Genetic Tests for Facioscapulohumeral Muscular Dystrophy

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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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MalaCards organs/tissues related to Facioscapulohumeral Muscular Dystrophy:

32
Skeletal muscle, Testes, Heart, Lung, Cortex, 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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Articles related to Facioscapulohumeral Muscular Dystrophy:

(show top 50)    (show all 370)
idTitleAuthorsYear
1
Beevor's sign in facioscapulohumeral muscular dystrophy. (24827829)
2014
2
Facioscapulohumeral muscular dystrophy. (25037087)
2014
3
Telomere position effect regulates DUX4 in human facioscapulohumeral muscular dystrophy. (23644600)
2013
4
Predicting hearing loss in facioscapulohumeral muscular dystrophy. (24042094)
2013
5
Metronidazole-induced reversible encephalopathy in a patient with facioscapulohumeral muscular dystrophy. (22903363)
2013
6
Muscle regeneration and inflammation in patients with facioscapulohumeral muscular dystrophy. (23410246)
2013
7
Focal and other unusual presentations of facioscapulohumeral muscular dystrophy. (22907234)
2012
8
Elderly onset of weakness in facioscapulohumeral muscular dystrophy. (23024867)
2012
9
Atypical onset in a series of 122 cases with FacioScapuloHumeral Muscular Dystrophy. (22079131)
2012
10
A rare case of facioscapulohumeral muscular dystrophy and myasthenia gravis. (24250856)
2012
11
Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis. (22798623)
2012
12
Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity. (21984748)
2012
13
DUX4, a candidate gene for facioscapulohumeral muscular dystrophy, causes p53-dependent myopathy in vivo. (21446026)
2011
14
Beevor's sign in facioscapulohumeral muscular dystrophy: an old sign with new implications. (19838767)
2010
15
Facioscapulohumeral muscular dystrophy presenting with unusual phenotypes and atypical morphological features of vacuolar myopathy. (20146070)
2010
16
Quality of life and pain in patients with facioscapulohumeral muscular dystrophy. (19609906)
2009
17
Teaching NeuroImages: Hemiatrophy as a clinical presentation in facioscapulohumeral muscular dystrophy. (19652136)
2009
18
Evolutionary conservation of a coding function for D4Z4, the tandem DNA repeat mutated in facioscapulohumeral muscular dystrophy. (17668377)
2007
19
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
20
Pushing the genetic frontier with facioscapulohumeral muscular dystrophy. (17310022)
2007
21
Abnormal expression of mu-crystallin in facioscapulohumeral muscular dystrophy. (17451686)
2007
22
Facioscapulohumeral muscular dystrophy. A quantitative electromyographic study. (17557650)
2007
23
Effects of training and albuterol on pain and fatigue in facioscapulohumeral muscular dystrophy. (17361345)
2007
24
Severe phenotype in infantile facioscapulohumeral muscular dystrophy. (16934468)
2006
25
Rapid and accurate diagnosis of facioscapulohumeral muscular dystrophy. (16938455)
2006
26
Facioscapulohumeral muscular dystrophy type 1A in northwestern Tuscany: a molecular genetics-based epidemiological and genotype-phenotype study. (15857184)
2005
27
Mechanism and timing of mitotic rearrangements in the subtelomeric D4Z4 repeat involved in facioscapulohumeral muscular dystrophy. (15154112)
2004
28
Scapulothoracic arthrodesis in facioscapulohumeral muscular dystrophy. (12671492)
2003
29
Pulse field gel electrophoresis for the detection of facioscapulohumeral muscular dystrophy gene rearrangements. (12491930)
2003
30
Facioscapulohumeral muscular dystrophy. (10590886)
1999
31
Sequence homology between 4qter and 10qter loci facilitates the instability of subtelomeric KpnI repeat units implicated in facioscapulohumeral muscular dystrophy. (9634507)
1998
32
Molecular genetics of facioscapulohumeral muscular dystrophy (FSHD). (9132141)
1997
33
A search for genes in the facioscapulohumeral muscular dystrophy region. (8736940)
1996
34
Cloning and mapping of a very short (10-kb) EcoRI fragment associated with facioscapulohumeral muscular dystrophy (FSHD). (7739622)
1995
35
Inflammatory response in facioscapulohumeral muscular dystrophy (FSHD): immunocytochemical and genetic analyses. (23573588)
1995
36
Facioscapulohumeral muscular dystrophy in the Dutch population. (23573591)
1995
37
YAC contigs for 4q35 in the region of the facioscapulohumeral muscular dystrophy (FSHD) gene. (8188296)
1994
38
Affection of mimic muscles, simulating damage of the facial nerve in patients with facioscapulohumeral muscular dystrophy. (10774323)
1994
39
Facioscapulohumeral muscular dystrophy (FSHD): design of natural history study and results of baseline testing. FSH-DY Group. (8145913)
1994
40
Genetics of facioscapulohumeral muscular dystrophy: new mutations in sporadic cases. (8232958)
1993
41
Evidence for heterogeneity in facioscapulohumeral muscular dystrophy (FSHD). (8328457)
1993
42
Molecular genetics of facioscapulohumeral muscular dystrophy. (8186699)
1993
43
Facioscapulohumeral muscular dystrophy defect identified. (1363882)
1992
44
Severe visual loss associated with retinal telangiectasis and facioscapulohumeral muscular dystrophy. (1505769)
1992
45
Genetic linkage map of facioscapulohumeral muscular dystrophy and five polymorphic loci on chromosome 4q35-qter. (1642239)
1992
46
Exclusion of the gene responsible for facioscapulohumeral muscular dystrophy (FSH) at 6q23-q27. (1883411)
1991
47
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
48
Estimation of age dependent penetrance in facioscapulohumeral muscular dystrophy by minimising ascertainment bias. (2614794)
1989
49
Linkage analysis of French families with facioscapulohumeral muscular dystrophy. (2769721)
1989
50
Retinal vascular abnormalities in facioscapulohumeral muscular dystrophy. A general association with genetic and therapeutic implications. (3580827)
1987

Variations for Facioscapulohumeral Muscular Dystrophy

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Expression for genes affiliated with Facioscapulohumeral Muscular Dystrophy

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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

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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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Products for genes affiliated with Facioscapulohumeral Muscular Dystrophy

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  • Antibodies
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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet