FSHD
MCID: FCS001
MIFTS: 44

Facioscapulohumeral Muscular Dystrophy (FSHD) malady

Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases categories

Summaries for Facioscapulohumeral Muscular Dystrophy

About this section
Sources:
44NIH Rare Diseases, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
NIH Rare Diseases:44 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 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.

Wikipedia:66 Facioscapulohumeral muscular dystrophy (FSHMD, FSHD or FSH), which was originally named... more...

Description from OMIM:48 158900

GeneReviews summary for fsh

Aliases & Classifications for Facioscapulohumeral Muscular Dystrophy

About this section
Sources:
9Disease Ontology, 20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 11DISEASES, 46Novoseek, 63UMLS, 36MeSH, 48OMIM, 41NCIt, 59SNOMED-CT
See all sources

Classifications:

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


Aliases & Descriptions:

facioscapulohumeral muscular dystrophy 9 20 44 22 11
muscular dystrophy, facioscapulohumeral 44 21 23 22 63
facioscapulohumeral muscular dystrophy 1a 44 63
landouzy-dejerine muscular dystrophy 9 44
fsh muscular dystrophy 20 22
fshd 44 22
facioscapulohumeral type progressive muscular dystrophy 22
muscular dystrophy, facioscapulohumeral, type 1a 44
facioscapuloperoneal muscular dystrophy 22
muscular dystrophy facioscapulohumeral 46
muscular dystrophy, landouzy-dejerine 9
landouzy dejerine muscular dystrophy 9
facio-scapulo-humeral dystrophy 22
facioscapulohumeral atrophy 22
fshmd1a 44
fshd1a 44


External Ids:

Disease Ontology9 DOID:11727
MeSH36 D020391
SNOMED-CT59 399091004, 56096001
OMIM48 158900
NCIt41 C84704

Related Diseases for Facioscapulohumeral Muscular Dystrophy

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

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



Diseases related to facioscapulohumeral muscular dystrophy

Symptoms for Facioscapulohumeral Muscular Dystrophy

About this section
Sources:
48OMIM
See all sources


Clinical features from OMIM:

158900

Drugs & Therapeutics for Facioscapulohumeral Muscular Dystrophy

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
See all sources

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

About this section
Sources:
21GeneTests, 23GTR
See all sources

Genetic tests related to Facioscapulohumeral Muscular Dystrophy:

id Genetic test Affiliating Genes
1 Facioscapulohumeral Muscular Dystrophy21 23 DUX4

Anatomical Context for Facioscapulohumeral Muscular Dystrophy

About this section
Sources:
34MalaCards
See all sources

MalaCards organs/tissues related to Facioscapulohumeral Muscular Dystrophy:

34
Skeletal muscle, Testes, Heart, Tongue, Lung, Breast, T cells, Cortex

Animal Models for Facioscapulohumeral Muscular Dystrophy or affiliated genes

About this section

Publications for Facioscapulohumeral Muscular Dystrophy

About this section
Sources:
53PubMed
See all sources

Articles related to Facioscapulohumeral Muscular Dystrophy:

(show top 50)    (show all 354)
idTitleAuthorsYear
1
Telomere position effect regulates DUX4 in human facioscapulohumeral muscular dystrophy. (23644600)
2013
2
Predicting hearing loss in facioscapulohumeral muscular dystrophy. (24042094)
2013
3
Metronidazole-induced reversible encephalopathy in a patient with facioscapulohumeral muscular dystrophy. (22903363)
2013
4
Muscle regeneration and inflammation in patients with facioscapulohumeral muscular dystrophy. (23410246)
2013
5
Focal and other unusual presentations of facioscapulohumeral muscular dystrophy. (22907234)
2012
6
Elderly onset of weakness in facioscapulohumeral muscular dystrophy. (23024867)
2012
7
Atypical onset in a series of 122 cases with FacioScapuloHumeral Muscular Dystrophy. (22079131)
2012
8
A rare case of facioscapulohumeral muscular dystrophy and myasthenia gravis. (24250856)
2012
9
Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis. (22798623)
2012
10
Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity. (21984748)
2012
11
DUX4, a candidate gene for facioscapulohumeral muscular dystrophy, causes p53-dependent myopathy in vivo. (21446026)
2011
12
Beevor's sign in facioscapulohumeral muscular dystrophy: an old sign with new implications. (19838767)
2010
13
Facioscapulohumeral muscular dystrophy presenting with unusual phenotypes and atypical morphological features of vacuolar myopathy. (20146070)
2010
14
Quality of life and pain in patients with facioscapulohumeral muscular dystrophy. (19609906)
2009
15
Teaching NeuroImages: Hemiatrophy as a clinical presentation in facioscapulohumeral muscular dystrophy. (19652136)
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
Pushing the genetic frontier with facioscapulohumeral muscular dystrophy. (17310022)
2007
19
Abnormal expression of mu-crystallin in facioscapulohumeral muscular dystrophy. (17451686)
2007
20
Facioscapulohumeral muscular dystrophy. A quantitative electromyographic study. (17557650)
2007
21
Effects of training and albuterol on pain and fatigue in facioscapulohumeral muscular dystrophy. (17361345)
2007
22
Severe phenotype in infantile facioscapulohumeral muscular dystrophy. (16934468)
2006
23
Rapid and accurate diagnosis of facioscapulohumeral muscular dystrophy. (16938455)
2006
24
Facioscapulohumeral muscular dystrophy type 1A in northwestern Tuscany: a molecular genetics-based epidemiological and genotype-phenotype study. (15857184)
2005
25
Mechanism and timing of mitotic rearrangements in the subtelomeric D4Z4 repeat involved in facioscapulohumeral muscular dystrophy. (15154112)
2004
26
Scapulothoracic arthrodesis in facioscapulohumeral muscular dystrophy. (12671492)
2003
27
Pulse field gel electrophoresis for the detection of facioscapulohumeral muscular dystrophy gene rearrangements. (12491930)
2003
28
Facioscapulohumeral muscular dystrophy. (10590886)
1999
29
Sequence homology between 4qter and 10qter loci facilitates the instability of subtelomeric KpnI repeat units implicated in facioscapulohumeral muscular dystrophy. (9634507)
1998
30
Molecular genetics of facioscapulohumeral muscular dystrophy (FSHD). (9132141)
1997
31
A search for genes in the facioscapulohumeral muscular dystrophy region. (8736940)
1996
32
Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy (FSHD). (8733043)
1996
33
Cloning and mapping of a very short (10-kb) EcoRI fragment associated with facioscapulohumeral muscular dystrophy (FSHD). (7739622)
1995
34
Inflammatory response in facioscapulohumeral muscular dystrophy (FSHD): immunocytochemical and genetic analyses. (23573588)
1995
35
Clinical variability of facioscapulohumeral muscular dystrophy in Russia. (23573592)
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

About this section

Expression for genes affiliated with Facioscapulohumeral Muscular Dystrophy

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
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

About this section

Compounds for genes affiliated with Facioscapulohumeral Muscular Dystrophy

About this section

GO Terms for genes affiliated with Facioscapulohumeral Muscular Dystrophy

About this section

Products for genes affiliated with Facioscapulohumeral Muscular Dystrophy

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Facioscapulohumeral Muscular Dystrophy

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet