MCID: FCS012
MIFTS: 56

Facioscapulohumeral Muscular Dystrophy 1

Categories: Rare diseases, Genetic diseases, Muscle diseases, Neuronal diseases

Aliases & Classifications for Facioscapulohumeral Muscular Dystrophy 1

MalaCards integrated aliases for Facioscapulohumeral Muscular Dystrophy 1:

Name: Facioscapulohumeral Muscular Dystrophy 1 53 71 13
Facioscapulohumeral Muscular Dystrophy 53 37 12 72 23 49 24 55 71 36 28 14
Muscular Dystrophy, Facioscapulohumeral 72 49 24 41 69
Fshd 53 49 24 55 71
Landouzy-Dejerine Muscular Dystrophy 53 12 49 71
Fshd1a 53 49 71
Muscular Dystrophy, Facioscapulohumeral, Type 1a 53 49
Facioscapulohumeral Muscular Dystrophy 1a 49 69
Fsh Muscular Dystrophy 23 24
Fshd1 53 71
Muscular Dystrophy, Facioscapulohumeral, Type 1a; Fshd1a 53
Facioscapulohumeral Type Progressive Muscular Dystrophy 24
Facioscapulohumeral Muscular Dystrophy; Fshd; Fmd 53
Muscular Dystrophy, Facioscapulohumeral, Type 1 53
Facioscapulohumeral Muscular Dystrophy Type 1a 71
Facioscapuloperoneal Muscular Dystrophy 24
Muscular Dystrophy Facioscapulohumeral 51
Muscular Dystrophy, Landouzy-Dejerine 12
Landouzy Dejerine Muscular Dystrophy 12
Facio-Scapulo-Humeral Dystrophy 24
Facioscapulohumeral Dystrophy 55
Facioscapulohumeral Myopathy 55
Facioscapulohumeral Atrophy 24
Landouzy-Dejerine Myopathy 55
Fsh Dystrophy 55
Fshmd1a 49
Fmd 71

Characteristics:

Orphanet epidemiological data:

55
facioscapulohumeral dystrophy
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Adolescent,Adult,Childhood,Infancy; Age of death: normal life expectancy;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive
onset in childhood or adolescence
incidence 1 in 20,000


HPO:

31
facioscapulohumeral muscular dystrophy 1:
Onset and clinical course childhood onset slow progression
Inheritance autosomal dominant inheritance


GeneReviews:

23
Penetrance In one study, penetrance of fshd was found to vary by age and gender; it was 83% by age 30 years, but significantly greater for males (95%) than for females (69%) [zatz et al 1998]. this finding was confirmed by tonini et al [2004a]. the sex difference in penetrance is unexplained [zatz et al 1998]...

Classifications:

Orphanet: 55  
Rare neurological diseases


Summaries for Facioscapulohumeral Muscular Dystrophy 1

OMIM : 53 Facioscapulohumeral muscular dystrophy is the third most common hereditary disease of muscle after Duchenne (DMD; 310200) and myotonic (160900) dystrophy. It is a highly variable disorder with weakness appearing from infancy to late life but typically in the second decade. In general, the disease initially involves the face and the scapulae followed by the foot dorsiflexors and the hip girdles. Typical features are striking asymmetry of muscle involvement from side to side and sparing of bulbar extraocular and respiratory muscles (Tawil et al., 1998). Richards et al. (2012) provided a detailed review of FSHD. See also FSHD2 (158901), which is phenotypically indistinguishable from FSHD1 but not associated with contraction of the D4Z4 microsatellite repeat. Evidence suggests, however, that epigenetic changes in this region are associated with both FSHD1 and FSHD2 (Zeng et al., 2009). (158900)

MalaCards based summary : Facioscapulohumeral Muscular Dystrophy 1, also known as facioscapulohumeral muscular dystrophy, is related to facioscapulohumeral muscular dystrophy 2 and muscular dystrophy, and has symptoms including hyperlordosis, sensorineural hearing impairment and elevated serum creatine phosphokinase. An important gene associated with Facioscapulohumeral Muscular Dystrophy 1 is FSHMD1A (Facioscapulohumeral Muscular Dystrophy 1A). The drugs Creatine and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, heart and testes.

Genetics Home Reference : 24 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.

NIH Rare Diseases : 49 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

UniProtKB/Swiss-Prot : 71 Facioscapulohumeral muscular dystrophy 1: A degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicularis oculi muscles.

Wikipedia : 72 Facioscapulohumeral muscular dystrophy (FSHMD, FSHD or FSH)—originally named Landouzy-Dejerine—is a... more...

GeneReviews: NBK1443

Related Diseases for Facioscapulohumeral Muscular Dystrophy 1

Graphical network of the top 20 diseases related to Facioscapulohumeral Muscular Dystrophy 1:



Diseases related to Facioscapulohumeral Muscular Dystrophy 1

Symptoms & Phenotypes for Facioscapulohumeral Muscular Dystrophy 1

Symptoms via clinical synopsis from OMIM:

53
Chest RibsSternum Clavicles And Scapulae:
scapular winging

Head And Neck Ears:
sensorineural hearing loss

Neurologic Central Nervous System:
seizures (less common)
mental retardation (variable expression)

Head And Neck Eyes:
retinal vasculopathy
peripheral retinal telangiectasia, capillary closure, leakage, and microaneurysm formation
exudative retinal detachment
macular exudates and hemorrhages
external ophthalmoplegia (uncommon)

Abdomen Gastroin testinal:
dysphagia (less common)

Head And Neck Mouth:
tongue atrophy

Laboratory Abnormalities:
increased serum creatine kinase

Head And Neck Face:
facial muscle weakness and atrophy

Respiratory Lung:
restrictive pulmonary dysfunction

Muscle Soft Tissue:
shoulder girdle muscle weakness and atrophy, progressive
facial muscle weakness and atrophy, progressive
upper arm and pelvic muscle weakness and atrophy (later onset)
abdominal wall muscle weakness (later onset)
foot extensor muscle weakness (later onset)
more

Clinical features from OMIM:

158900

Human phenotypes related to Facioscapulohumeral Muscular Dystrophy 1:

55 31 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperlordosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0003307
2 sensorineural hearing impairment 55 31 frequent (33%) Frequent (79-30%) HP:0000407
3 elevated serum creatine phosphokinase 55 31 hallmark (90%) Very frequent (99-80%) HP:0003236
4 emg abnormality 55 31 hallmark (90%) Very frequent (99-80%) HP:0003457
5 skeletal muscle atrophy 55 31 hallmark (90%) Very frequent (99-80%) HP:0003202
6 mask-like facies 55 31 hallmark (90%) Very frequent (99-80%) HP:0000298
7 abnormality of the eyelashes 55 31 frequent (33%) Frequent (79-30%) HP:0000499
8 abnormality of the retinal vasculature 55 31 frequent (33%) Frequent (79-30%) HP:0008046
9 palpebral edema 55 31 frequent (33%) Frequent (79-30%) HP:0100540
10 seizures 31 HP:0001250
11 intellectual disability 31 HP:0001249
12 dysphagia 31 occasional (7.5%) HP:0002015
13 facial palsy 31 HP:0010628
14 abdominal wall muscle weakness 31 HP:0009023
15 malformation of the heart and great vessels 55 Occasional (29-5%)
16 scapular winging 31 HP:0003691
17 retinal telangiectasia 31 HP:0007763
18 abnormality of cardiovascular system morphology 31 occasional (7.5%) HP:0030680
19 external ophthalmoplegia 31 HP:0000544
20 restrictive deficit on pulmonary function testing 31 HP:0002111
21 calf muscle hypertrophy 31 HP:0008981
22 shoulder girdle muscle weakness 31 HP:0003547
23 shoulder girdle muscle atrophy 31 HP:0003724
24 tongue atrophy 31 HP:0012473
25 exudative retinal detachment 31 HP:0012231
26 scapulohumeral muscular dystrophy 31 HP:0008970
27 beevor's sign 31 HP:0030664

Drugs & Therapeutics for Facioscapulohumeral Muscular Dystrophy 1

Drugs for Facioscapulohumeral Muscular Dystrophy 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 39)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Creatine Approved, Investigational, Nutraceutical Phase 2 57-00-1 586
2 Pharmaceutical Solutions Phase 2
3
Methyltestosterone Approved Phase 1 58-18-4 6010
4
Testosterone Approved, Investigational Phase 1 58-22-0 6013
5 Anabolic Agents Phase 1
6 Androgens Phase 1
7 Antineoplastic Agents, Hormonal Phase 1
8 Hormone Antagonists Phase 1
9 Hormones Phase 1
10 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1
11 Testosterone 17 beta-cypionate Phase 1
12
Testosterone enanthate Phase 1 315-37-7 9416
13 Testosterone undecanoate Phase 1
14
Selenium Approved, Investigational, Vet_approved Not Applicable 7782-49-2
15
Menthol Approved 2216-51-5 16666
16 Tocopherol Approved, Investigational, Nutraceutical Not Applicable
17
Vitamin C Approved, Nutraceutical Not Applicable 50-81-7 54670067 5785
18
Vitamin E Approved, Nutraceutical, Vet_approved Not Applicable 59-02-9 14985
19 Antioxidants Not Applicable
20 Micronutrients Not Applicable
21 Protective Agents Not Applicable
22 Tocopherols Not Applicable
23 Tocotrienols Not Applicable
24 Trace Elements Not Applicable
25 Vitamins Not Applicable
26 Adrenergic Agents Not Applicable
27 Adrenergic Agonists Not Applicable
28 Adrenergic beta-2 Receptor Agonists Not Applicable
29 Adrenergic beta-Agonists Not Applicable
30 Albuterol Not Applicable
31 Anti-Asthmatic Agents Not Applicable
32 Autonomic Agents Not Applicable
33 Bronchodilator Agents Not Applicable
34 Neurotransmitter Agents Not Applicable
35 Peripheral Nervous System Agents Not Applicable
36 Respiratory System Agents Not Applicable
37 Tocolytic Agents Not Applicable
38 Tocotrienol Investigational, Nutraceutical Not Applicable 6829-55-6
39 Whey Protein Nutraceutical Not Applicable

Interventional clinical trials:

(show all 32)

# Name Status NCT ID Phase Drugs
1 Evaluate Safety and Biological Activity of ATYR1940 in Patients With Early Onset Facioscapulohumeral Muscular Dystrophy Completed NCT02603562 Phase 1, Phase 2
2 The Safety and Biological Activity of ATYR1940 in Patients With Limb Girdle or Facioscapulohumeral Muscular Dystrophies Completed NCT02579239 Phase 1, Phase 2
3 Study to Evaluate the Long-Term Safety, Tolerability, and Biological Activity of ATYR1940 in Patients With Limb Girdle and Facioscapulohumeral Muscular Dystrophy Completed NCT02836418 Phase 1, Phase 2 ATYR1940
4 Safety, Tolerability, Pharmacokinetics, and Biological Activity of ATYR1940 in Adult Patients With Muscular Dystrophy Completed NCT02239224 Phase 1, Phase 2
5 Study Evaluating MYO-029 in Adult Muscular Dystrophy Completed NCT00104078 Phase 1, Phase 2 MYO-029
6 Effect of Creatine Monohydrate on Functional Muscle Strength in Children With FSHD Recruiting NCT02948244 Phase 2
7 Study of ACE-083 in Patients With Facioscapulohumeral Muscular Dystrophy (FSHD) Recruiting NCT02927080 Phase 2 ACE-083;ACE-083 or placebo
8 Safety, Tolerability, PK, and Activity of ATYR1940 in Patients With Muscular Dystrophy - Study Extension Active, not recruiting NCT02531217 Phase 1, Phase 2
9 Study of Testosterone and rHGH in FSHD Recruiting NCT03123913 Phase 1 Testosterone Enanthate;Somatropin
10 Clinical, Genetic and Epigenetic Characterization of Patients With FSHD Type 1 and FSHD Type 2 Unknown status NCT01970735
11 Effects Antioxidants Supplementation on Muscular Function Patients Facioscapulohumeral Dystrophy (FSHD) Unknown status NCT01596803 Not Applicable
12 Physical Training Introduction in Lifestyle of Facioscapulohumeral Dystrophy Patients Completed NCT01116570
13 Prospective Study for 24-months of Physical Training Introduced in Lifestyle of Patients With FSHD : Tolerance, Sustainability and Efficiency of Unsupervised Training Program. Completed NCT01689480
14 Study of Morphology and Functional Magnetic Resonance Imaging (MRI) Muscle Patients With Muscular Dystrophy Type FSHD Benefiting a Physical Training Introduced. Completed NCT01990976
15 1 Year MRI Followup in Facioscapulohumeral Muscular Dystrophy Completed NCT02159612
16 High Intensity Training in Patients With Facioscapulohumeral Muscular Dystrophy Completed NCT02159963 Not Applicable
17 Electrostimulation of Shoulder Girdle and Quadriceps Muscles in Facioscapulohumeral Muscular Dystrophy Patients Completed NCT00821548 Not Applicable
18 A Multicenter Collaborative Study on the Clinical Features, Expression Profiling, and Quality of Life of Infantile Onset FSHD Completed NCT01437345
19 Randomized Study of Albuterol in Patients With Facioscapulohumeral Muscular Dystrophy Completed NCT00004685 Not Applicable albuterol
20 Protein Supplementation and Exercise in Patients With FSH Muscular Dystrophy- a Randomized Placebo Controlled Study Completed NCT01618331 Not Applicable
21 Study of Muscle Wasting and Altered Metabolism in Patients With Myotonic Dystrophy Completed NCT00004769 Not Applicable
22 Neurological and Psychiatric Comorbidities Patients With FSHD 1 and 2 Recruiting NCT02032979
23 Magnetic Resonance Imaging and Spectroscopy Biomarkers for Facioscapulohumeral Muscular Dystrophy Recruiting NCT01671865
24 Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Registry Recruiting NCT00082108
25 Clinical Trial Readiness to Solve Barriers to Drug Development in FSHD Recruiting NCT03458832
26 Effects of NMES on Muscle Function of Patients With FSHD: a Double-blind Randomized Controled Clinical Trial Recruiting NCT02861911 Not Applicable
27 Molecular Analysis of Patients With Neuromuscular Disease Recruiting NCT00390104
28 Acceptance and Commitment Therapy for Muscle Disease Recruiting NCT02810028 Not Applicable
29 Muscle Inflammation and Fat Infiltration in Patients Affected by FSHD Active, not recruiting NCT02541292
30 Rasch-analysis of Clinical Severity in FSHD Active, not recruiting NCT02766985
31 Bone Health in Facioscapulohumeral Muscular Dystrophy Active, not recruiting NCT02413190
32 Facioscapulohumeral Dystrophy in Children Active, not recruiting NCT02625662

Search NIH Clinical Center for Facioscapulohumeral Muscular Dystrophy 1

Cochrane evidence based reviews: muscular dystrophy, facioscapulohumeral

Genetic Tests for Facioscapulohumeral Muscular Dystrophy 1

Genetic tests related to Facioscapulohumeral Muscular Dystrophy 1:

# Genetic test Affiliating Genes
1 Facioscapulohumeral Muscular Dystrophy 28 FRG1

Anatomical Context for Facioscapulohumeral Muscular Dystrophy 1

MalaCards organs/tissues related to Facioscapulohumeral Muscular Dystrophy 1:

38
Skeletal Muscle, Heart, Testes, Tongue

Publications for Facioscapulohumeral Muscular Dystrophy 1

Articles related to Facioscapulohumeral Muscular Dystrophy 1:

(show top 50) (show all 403)
# Title Authors Year
1
FAT1 Gene Alteration in Facioscapulohumeral Muscular Dystrophy Type 1. ( 29436205 )
2018
2
Genotype and phenotype analysis of 43 Iranian facioscapulohumeral muscular dystrophy patients; Evidence for anticipation. ( 29402602 )
2018
3
A cre-inducible DUX4 transgenic mouse model for investigating facioscapulohumeral muscular dystrophy. ( 29415061 )
2018
4
Estrogens enhance myoblast differentiation in facioscapulohumeral muscular dystrophy by antagonizing DUX4 activity. ( 28263188 )
2017
5
Facioscapulohumeral Muscular Dystrophy. ( 28915324 )
2017
6
It's not just physical: a qualitative study regarding the illness experiences of people with facioscapulohumeral muscular dystrophy. ( 27211201 )
2016
7
Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry. ( 27159994 )
2016
8
Clinical, muscle pathological, and genetic features of Japanese facioscapulohumeral muscular dystrophy 2 (FSHD2) patients with SMCHD1 mutations. ( 27061275 )
2016
9
A cross sectional study of two independent cohorts identifies serum biomarkers for facioscapulohumeral muscular dystrophy (FSHD). ( 27185459 )
2016
10
Clinical practice considerations in facioscapulohumeral muscular dystrophy Sydney, Australia, 21 September 2015. ( 27185458 )
2016
11
Teaching NeuroImages: Coats disease revealing facioscapulohumeral muscular dystrophy. ( 27462044 )
2016
12
A Human Pluripotent Stem Cell Model of Facioscapulohumeral Muscular Dystrophy-Affected Skeletal Muscles. ( 27217344 )
2016
13
Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry. ( 26733561 )
2016
14
Corrigendum to "Clinical, muscle pathological, and genetic features of Japanese facioscapulohumeral muscular dystrophy 2 (FSHD2) patients with SMCHD1 mutations": [Neuromuscular Disorders 26/4-5 (2016) 300-308]. ( 27312129 )
2016
15
Individual epigenetic status of the pathogenic D4Z4 macrosatellite correlates with disease in facioscapulohumeral muscular dystrophy. ( 25904990 )
2015
16
Functional impact of vibratory proprioceptive assistance in patients with facioscapulohumeral muscular dystrophy. ( 25678042 )
2015
17
Birdshot chorioretinopathy in a male patient with facioscapulohumeral muscular dystrophy. ( 25861398 )
2015
18
Facioscapulohumeral muscular dystrophy as a genetic cause of pectus excavatum. ( 25725206 )
2015
19
A feedback loop between nonsense-mediated decay and the retrogene DUX4 in facioscapulohumeral muscular dystrophy. ( 25564732 )
2015
20
Correlation between low FAT1 expression and early affected muscle in facioscapulohumeral muscular dystrophy. ( 26018399 )
2015
21
Loss of epigenetic silencing of the DUX4 transcription factor gene in facioscapulohumeral muscular dystrophy. ( 26113644 )
2015
22
Facioscapulohumeral muscular dystrophy and limb-girdle muscular dystrophy: "double trouble" overlapping syndrome? ( 25528007 )
2015
23
Muscle pathology grade for facioscapulohumeral muscular dystrophy biopsies. ( 25704033 )
2015
24
Whole-body magnetic resonance imaging evaluation of facioscapulohumeral muscular dystrophy. ( 25641525 )
2015
25
Gait propulsion in patients with facioscapulohumeral muscular dystrophy and ankle plantarflexor weakness. ( 25687333 )
2015
26
Hemizygosity for SMCHD1 in Facioscapulohumeral Muscular Dystrophy Type 2: Consequences for 18p Deletion Syndrome. ( 25820463 )
2015
27
I^-Catenin is central to DUX4-driven network rewiring in facioscapulohumeral muscular dystrophy. ( 25551153 )
2015
28
Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study. ( 25603992 )
2015
29
Retinal telangiectasis detected during a vision screening examination in a child with hearing loss led to the diagnosis of facioscapulohumeral muscular dystrophy. ( 24924285 )
2014
30
Facioscapulohumeral muscular dystrophy. ( 24882751 )
2014
31
Multiplex Screen of Serum Biomarkers in Facioscapulohumeral Muscular Dystrophy. ( 25705588 )
2014
32
Facioscapulohumeral muscular dystrophy: more complex than it appears. ( 25323867 )
2014
33
High prevalence of incomplete right bundle branch block in facioscapulohumeral muscular dystrophy without cardiac symptoms. ( 25473735 )
2014
34
Severe paraspinal muscle involvement in facioscapulohumeral muscular dystrophy. ( 25142899 )
2014
35
Early-Onset Facioscapulohumeral Muscular Dystrophy Type 1 With Some Atypical Features. ( 24717985 )
2014
36
Facioscapulohumeral muscular dystrophy. ( 25037087 )
2014
37
Reachable workspace in facioscapulohumeral muscular dystrophy (FSHD) by kinect. ( 24828906 )
2014
38
Trunk muscle involvement is most critical for the loss of balance control in patients with facioscapulohumeral muscular dystrophy. ( 25156185 )
2014
39
High prevalence of incomplete right bundle branch block in facioscapulohumeral muscular dystrophy without cardiac symptoms. ( 25264980 )
2014
40
Identifying diagnostic DNA methylation profiles for facioscapulohumeral muscular dystrophy in blood and saliva using bisulfite sequencing. ( 25400706 )
2014
41
Skeletal muscle imaging in facioscapulohumeral muscular dystrophy, pattern and asymmetry of individual muscle involvement. ( 25176503 )
2014
42
Three novel serum biomarkers, miR-1, miR-133a, and miR-206 for Limb-girdle muscular dystrophy, Facioscapulohumeral muscular dystrophy, and Becker muscular dystrophy. ( 25150707 )
2014
43
Myogenic enhancers regulate expression of the facioscapulohumeral muscular dystrophy-associated DUX4 gene. ( 24636994 )
2014
44
Beevor's sign in facioscapulohumeral muscular dystrophy. ( 24827829 )
2014
45
Restrictive lung involvement in facioscapulohumeral muscular dystrophy. ( 24639337 )
2014
46
Upper girdle imaging in facioscapulohumeral muscular dystrophy. ( 24932477 )
2014
47
Facioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A - evidence for "double trouble" overlapping syndromes. ( 24041033 )
2013
48
Sarcomeric dysfunction contributes to muscle weakness in facioscapulohumeral muscular dystrophy. ( 23365058 )
2013
49
Reevaluating measures of disease progression in facioscapulohumeral muscular dystrophy. ( 23406877 )
2013
50
Pain and the alpha-sleep anomaly: a mechanism of sleep disruption in facioscapulohumeral muscular dystrophy. ( 23387524 )
2013

Variations for Facioscapulohumeral Muscular Dystrophy 1

Copy number variations for Facioscapulohumeral Muscular Dystrophy 1 from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 184837 4 182600000 191273063 Deletion Facioscapulohumeral muscular dystrophy

Expression for Facioscapulohumeral Muscular Dystrophy 1

Search GEO for disease gene expression data for Facioscapulohumeral Muscular Dystrophy 1.

Pathways for Facioscapulohumeral Muscular Dystrophy 1

GO Terms for Facioscapulohumeral Muscular Dystrophy 1

Cellular components related to Facioscapulohumeral Muscular Dystrophy 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 8.8 DMD FRG1 PDLIM3

Biological processes related to Facioscapulohumeral Muscular Dystrophy 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 muscle cell cellular homeostasis GO:0046716 8.62 DMD GAA

Sources for Facioscapulohumeral Muscular Dystrophy 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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