FSHD
MCID: FCS001
MIFTS: 44

Facioscapulohumeral Muscular Dystrophy (FSHD) malady

Genetic diseases, Rare diseases, Muscle diseases categories

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:22 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:64 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 31 9 20 42 22 11
Muscular Dystrophy, Facioscapulohumeral 42 21 23 22 61
Fsh Muscular Dystrophy 20 22 61
Facioscapulohumeral Muscular Dystrophy 1a 42 61
Facioscapuloperoneal Muscular Dystrophy 22 61
Landouzy-Dejerine Muscular Dystrophy 9 42
Facio-Scapulo-Humeral Dystrophy 22 61
Fshd 42 22
Progressive Muscular Dystrophy, Facioscapulohumeral Type 61
 
Facioscapulohumeral Type Progressive Muscular Dystrophy 22
Muscular Dystrophy, Facioscapulohumeral, Type 1a 42
Muscular Dystrophy Facioscapulohumeral 44
Muscular Dystrophy, Landouzy-Dejerine 9
Landouzy Dejerine Muscular Dystrophy 9
Facioscapulohumeral Atrophy 22
Fshmd1a 42
Fshd1a 42


Classifications:

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


External Ids:

Disease Ontology9 DOID:11727
OMIM46 158900
SNOMED-CT56 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 Dystrophy21 23 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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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets, 31LifeMap Discovery®
See all sources
LifeMap Discovery
Genes differentially expressed in tissues of Facioscapulohumeral Muscular Dystrophy patients vs. healthy controls: 31 (show all 109)
id Gene Description Tissue Up/Dn Fold Change (log2) P value
1HOXC10homeobox C10Skeletal Muscle-2.630.000
2LINC00844long intergenic non-protein coding RNA 844Skeletal Muscle-2.040.000
3XISTX inactive specific transcript (non-protein coding)Skeletal Muscle+1.970.000
4FOSFBJ murine osteosarcoma viral oncogene homologSkeletal Muscle+1.960.000
5CRNDEcolorectal neoplasia differentially expressed (non-protein coding)Skeletal Muscle+1.930.000
6EFEMP1EGF containing fibulin-like extracellular matrix protein 1Skeletal Muscle+1.850.000
7SAMHD1SAM domain and HD domain 1Skeletal Muscle+1.750.000
8PCOLCE2procollagen C-endopeptidase enhancer 2Skeletal Muscle+1.650.000
9AKR1C3aldo-keto reductase family 1, member C3Skeletal Muscle+1.580.000
10ABLIM1actin binding LIM protein 1Skeletal Muscle+1.500.000
11MFAP5microfibrillar associated protein 5Skeletal Muscle+1.500.000
12KLF4Kruppel-like factor 4 (gut)Skeletal Muscle+1.500.000
13FBN1fibrillin 1Skeletal Muscle+1.490.000
14C12orf75chromosome 12 open reading frame 75Skeletal Muscle+1.490.000
15FEZ2fasciculation and elongation protein zeta 2 (zygin II)Skeletal Muscle+1.490.000
16FNDC1fibronectin type III domain containing 1Skeletal Muscle+1.470.000
17NNMTnicotinamide N-methyltransferaseSkeletal Muscle+1.460.000
18CD44CD44 molecule (Indian blood group)Skeletal Muscle+1.450.000
19CYR61cysteine-rich, angiogenic inducer, 61Skeletal Muscle+1.440.000
20TUBB2Atubulin, beta 2A class IIaSkeletal Muscle+1.410.000
21SDC2syndecan 2Skeletal Muscle+1.400.000
22EMP1epithelial membrane protein 1Skeletal Muscle+1.380.000
23C11orf96chromosome 11 open reading frame 96Skeletal Muscle+1.370.000
24UBE2Q2ubiquitin-conjugating enzyme E2Q family member 2Skeletal Muscle+1.360.000
25LUMlumicanSkeletal Muscle+1.340.000
26MAMDC2MAM domain containing 2Skeletal Muscle+1.310.000
27DCLK1doublecortin-like kinase 1Skeletal Muscle+1.300.000
28ACKR3atypical chemokine receptor 3Skeletal Muscle+1.300.000
29PRUNE2prune homolog 2 (Drosophila)Skeletal Muscle+1.290.000
30ABI3BPABI family, member 3 (NESH) binding proteinSkeletal Muscle+1.290.000
31SAT1spermidine/spermine N1-acetyltransferase 1Skeletal Muscle+1.290.000
32ANXA1annexin A1Skeletal Muscle+1.280.000
33COL12A1collagen, type XII, alpha 1Skeletal Muscle+1.280.000
34ASPHaspartate beta-hydroxylaseSkeletal Muscle+1.260.000
35ZFP36L1ZFP36 ring finger protein-like 1Skeletal Muscle+1.250.000
36RPS4Y1ribosomal protein S4, Y-linked 1Skeletal Muscle-1.250.000
37ADIPOQadiponectin, C1Q and collagen domain containingSkeletal Muscle+1.250.000
38TIMP2TIMP metallopeptidase inhibitor 2Skeletal Muscle+1.220.000
39COL3A1collagen, type III, alpha 1Skeletal Muscle+1.220.000
40CRIM1cysteine rich transmembrane BMP regulator 1 (chordin-like)Skeletal Muscle+1.210.000
41ZIC1Zic family member 1Skeletal Muscle+1.200.000
42PLEKHA1pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1Skeletal Muscle+1.190.000
43CITED2Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2Skeletal Muscle+1.190.000
44XIAPX-linked inhibitor of apoptosisSkeletal Muscle+1.180.000
45MAN1A1mannosidase, alpha, class 1A, member 1Skeletal Muscle+1.180.000
46TNRC6Atrinucleotide repeat containing 6ASkeletal Muscle+1.180.000
47CYP1B1cytochrome P450, family 1, subfamily B, polypeptide 1Skeletal Muscle+1.170.000
48C2orf69chromosome 2 open reading frame 69Skeletal Muscle+1.170.000
49ESYT2extended synaptotagmin-like protein 2Skeletal Muscle+1.170.000
50FAM126Afamily with sequence similarity 126, member ASkeletal Muscle+1.170.000
51ZNF91zinc finger protein 91Skeletal Muscle-1.160.000
52FSTL1follistatin-like 1Skeletal Muscle+1.150.000
53LOXL1lysyl oxidase-like 1Skeletal Muscle+1.150.000
54CYBRD1cytochrome b reductase 1Skeletal Muscle+1.150.000
55MGST1microsomal glutathione S-transferase 1Skeletal Muscle+1.150.000
56MYADMmyeloid-associated differentiation markerSkeletal Muscle+1.150.000
57MYOFmyoferlinSkeletal Muscle+1.150.000
58VCANversicanSkeletal Muscle+1.140.000
59RAPH1Ras association (RalGDS/AF-6) and pleckstrin homology domains 1Skeletal Muscle+1.140.000
60DCNdecorinSkeletal Muscle+1.130.000
61SFRP4secreted frizzled-related protein 4Skeletal Muscle+1.130.000
62ATP6AP2ATPase, H+ transporting, lysosomal accessory protein 2Skeletal Muscle+1.130.000
63MRC1mannose receptor, C type 1Skeletal Muscle+1.120.000
64PITX1paired-like homeodomain 1Skeletal Muscle+1.120.000
65DNAJA4DnaJ (Hsp40) homolog, subfamily A, member 4Skeletal Muscle+1.120.000
66FBLN1fibulin 1Skeletal Muscle+1.120.000
67CPEcarboxypeptidase ESkeletal Muscle+1.110.000
68HDAC4histone deacetylase 4Skeletal Muscle+1.110.000
69TCEAL7transcription elongation factor A (SII)-like 7Skeletal Muscle+1.110.000
70HOXD8homeobox D8Skeletal Muscle+1.100.000
71TFPItissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)Skeletal Muscle+1.100.000
72PTAFRplatelet-activating factor receptorSkeletal Muscle-1.100.000
73CYP4X1cytochrome P450, family 4, subfamily X, polypeptide 1Skeletal Muscle+1.100.000
74KIF21Akinesin family member 21ASkeletal Muscle+1.100.000
75PQLC3PQ loop repeat containing 3Skeletal Muscle+1.100.000
76YY1YY1 transcription factorSkeletal Muscle+1.100.000
77KANK1KN motif and ankyrin repeat domains 1Skeletal Muscle+1.090.000
78IL32interleukin 32Skeletal Muscle-1.090.000
79EGLN1egl-9 family hypoxia-inducible factor 1Skeletal Muscle+1.090.000
80SH3BGRLSH3 domain binding glutamate-rich protein likeSkeletal Muscle+1.080.000
81ST3GAL6ST3 beta-galactoside alpha-2,3-sialyltransferase 6Skeletal Muscle+1.080.000
82MBNL2muscleblind-like splicing regulator 2Skeletal Muscle+1.080.000
83PRNPprion proteinSkeletal Muscle+1.080.000
84OSBPL8oxysterol binding protein-like 8Skeletal Muscle+1.080.000
85IRF2BPLinterferon regulatory factor 2 binding protein-likeSkeletal Muscle+1.070.000
86ZNF827zinc finger protein 827Skeletal Muscle+1.070.000
87MAFBv-maf avian musculoaponeurotic fibrosarcoma oncogene homolog BSkeletal Muscle+1.060.000
88YWHAQtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, thetaSkeletal Muscle+1.060.000
89ESRRGestrogen-related receptor gammaSkeletal Muscle+1.060.000
90NEAT1nuclear paraspeckle assembly transcript 1 (non-protein coding)Skeletal Muscle+1.060.000
91PPM1Lprotein phosphatase, Mg2+/Mn2+ dependent, 1LSkeletal Muscle+1.060.000
92MARCKSmyristoylated alanine-rich protein kinase C substrateSkeletal Muscle+1.060.000
93FNIP2folliculin interacting protein 2Skeletal Muscle+1.050.000
94LRRFIP1leucine rich repeat (in FLII) interacting protein 1Skeletal Muscle+1.050.000
95CD9CD9 moleculeSkeletal Muscle+1.040.000
96EIF2S3eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDaSkeletal Muscle+1.030.000
97ACVR1activin A receptor, type ISkeletal Muscle+1.030.000
98FAM213Afamily with sequence similarity 213, member ASkeletal Muscle+1.030.000
99ANKRD37ankyrin repeat domain 37Skeletal Muscle+1.030.000
100GPSM2G-protein signaling modulator 2Skeletal Muscle+1.030.000
101PWAR6Prader Willi/Angelman region RNA 6Skeletal Muscle+1.020.000
102HOXA9homeobox A9Skeletal Muscle+1.020.000
103ZDHHC2zinc finger, DHHC-type containing 2Skeletal Muscle+1.020.000
104SCARA5scavenger receptor class A, member 5 (putative)Skeletal Muscle+1.020.000
105ZFP36L2ZFP36 ring finger protein-like 2Skeletal Muscle+1.010.000
106EOGTEGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferaseSkeletal Muscle+1.010.000
107CFHcomplement factor HSkeletal Muscle+1.010.000
108ADD3adducin 3 (gamma)Skeletal Muscle+1.000.000
109TGFBR3transforming growth factor, beta receptor IIISkeletal Muscle+1.000.000

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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Sources for Facioscapulohumeral Muscular Dystrophy

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet