FSHD1
MCID: FCS012
MIFTS: 67

Facioscapulohumeral Muscular Dystrophy 1 (FSHD1)

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

Aliases & Classifications for Facioscapulohumeral Muscular Dystrophy 1

MalaCards integrated aliases for Facioscapulohumeral Muscular Dystrophy 1:

Name: Facioscapulohumeral Muscular Dystrophy 1 57 75 13
Facioscapulohumeral Muscular Dystrophy 57 38 12 76 24 53 25 59 75 37 29 15
Muscular Dystrophy, Facioscapulohumeral 76 53 25 44 73
Fshd 57 53 25 59 75
Landouzy-Dejerine Muscular Dystrophy 57 12 53 75
Fshd1a 57 53 75
Muscular Dystrophy, Facioscapulohumeral, Type 1a 57 53
Facioscapulohumeral Muscular Dystrophy 1a 53 73
Fsh Muscular Dystrophy 24 25
Fshd1 57 75
Muscular Dystrophy, Facioscapulohumeral, Type 1a; Fshd1a 57
Facioscapulohumeral Type Progressive Muscular Dystrophy 25
Facioscapulohumeral Muscular Dystrophy; Fshd; Fmd 57
Dystrophy, Muscular, Facioscapulohumeral, Type 1 40
Muscular Dystrophy, Facioscapulohumeral, Type 1 57
Facioscapulohumeral Muscular Dystrophy Type 1a 75
Dystrophy, Muscular, Facioscapulohumeral 40
Facioscapuloperoneal Muscular Dystrophy 25
Muscular Dystrophy Facioscapulohumeral 55
Muscular Dystrophy, Landouzy-Dejerine 12
Landouzy Dejerine Muscular Dystrophy 12
Landouzydejerine Muscular Dystrophy 76
Facio-Scapulo-Humeral Dystrophy 25
Facioscapulohumeral Dystrophy 59
Facioscapulohumeral Myopathy 59
Facioscapulohumeral Atrophy 25
Landouzy-Dejerine Myopathy 59
Fsh Dystrophy 59
Fshmd1a 53
Fmd 75

Characteristics:

Orphanet epidemiological data:

59
facioscapulohumeral dystrophy
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Adolescent,Adult,Childhood,Infancy; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
facioscapulohumeral muscular dystrophy 1:
Onset and clinical course childhood onset slow progression
Inheritance autosomal dominant inheritance


GeneReviews:

24
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: 59  
Rare neurological diseases


Summaries for Facioscapulohumeral Muscular Dystrophy 1

OMIM : 57 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 fibromuscular dysplasia and frontometaphyseal dysplasia. An important gene associated with Facioscapulohumeral Muscular Dystrophy 1 is FSHMD1A (Facioscapulohumeral Muscular Dystrophy 1A), and among its related pathways/superpathways are MicroRNAs in cancer and miRs in Muscle Cell Differentiation. The drug Creatine has been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, testes and heart, and related phenotypes are hyperlordosis and sensorineural hearing impairment

Genetics Home Reference : 25 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 : 53 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.

UniProtKB/Swiss-Prot : 75 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 : 76 Facioscapulohumeral muscular dystrophy (FSHMD, FSHD or FSH)�??originally named Landouzy-Dejerine�??is a... more...

GeneReviews: NBK1443

Related Diseases for Facioscapulohumeral Muscular Dystrophy 1

Diseases in the Facioscapulohumeral Muscular Dystrophy 1 family:

Facioscapulohumeral Muscular Dystrophy 2

Diseases related to Facioscapulohumeral Muscular Dystrophy 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 109)
# Related Disease Score Top Affiliating Genes
1 fibromuscular dysplasia 12.2
2 frontometaphyseal dysplasia 11.8
3 otopalatodigital syndrome, type i 11.3
4 facioscapulohumeral muscular dystrophy 2 11.2
5 frontometaphyseal dysplasia 1 11.2
6 otopalatodigital syndrome, type ii 11.2
7 melnick-needles syndrome 11.2
8 perrault syndrome 1 11.1
9 coronary artery dissection, spontaneous 11.0
10 frontometaphyseal dysplasia 2 11.0
11 mouth disease 10.6
12 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.5
13 myasthenia gravis 10.5
14 myasthenia gravis congenital 10.5
15 epilepsy 10.4
16 retinal vascular disease 10.4
17 myopathy 10.4
18 coats disease 10.3
19 polyglucosan body myopathy 1 with or without immunodeficiency 10.3
20 telangiectasis 10.3
21 vascular disease 10.3
22 neuropathy 10.3
23 limb-girdle muscular dystrophy 10.3
24 progressive familial heart block, type ia 10.2
25 progressive familial heart block, type ib 10.2
26 right bundle branch block 10.2
27 18p deletion syndrome 10.2
28 myotonic dystrophy 10.2
29 hypertrophic cardiomyopathy 10.2
30 myotonia atrophica 10.2
31 pain - chronic 10.2
32 muscular dystrophy, limb-girdle, autosomal recessive 1 10.2 MIR21 MIR154
33 miyoshi muscular dystrophy 1 10.2 MIR221 MIR146B MIR132
34 leiomyoma, uterine 10.1 MIR34A MIR335 MIR21
35 muscular dystrophy 10.1
36 ovarian serous carcinoma 10.1 MIRLET7B MIR29A MIR214 MIR21
37 nonalcoholic fatty liver disease 10.1 MIR34A MIR21 MIR154 MIR132
38 achondroplasia 10.1
39 amyotrophic lateral sclerosis 1 10.1
40 breast cancer 10.1
41 macroglossia 10.1
42 bethlem myopathy 1 10.1
43 myositis 10.1
44 pectus excavatum 10.1
45 muscular dystrophy, becker type 10.1
46 birdshot chorioretinopathy 10.1
47 charcot-marie-tooth disease 10.1
48 muscle disorders 10.1
49 familial adenomatous polyposis 10.1
50 amyotrophic neuralgia 10.1

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:

57
Chest Ribs Sternum 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 Gastrointestinal:
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:

59 32 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperlordosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0003307
2 sensorineural hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000407
3 elevated serum creatine phosphokinase 59 32 hallmark (90%) Very frequent (99-80%) HP:0003236
4 emg abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0003457
5 skeletal muscle atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003202
6 mask-like facies 59 32 hallmark (90%) Very frequent (99-80%) HP:0000298
7 abnormality of the retinal vasculature 59 32 frequent (33%) Frequent (79-30%) HP:0008046
8 palpebral edema 59 32 frequent (33%) Frequent (79-30%) HP:0100540
9 intellectual disability 32 HP:0001249
10 seizures 32 HP:0001250
11 dysphagia 32 occasional (7.5%) HP:0002015
12 facial palsy 32 HP:0010628
13 abdominal wall muscle weakness 32 HP:0009023
14 malformation of the heart and great vessels 59 Occasional (29-5%)
15 scapular winging 32 HP:0003691
16 abnormality of the eyelashes 59 Frequent (79-30%)
17 retinal telangiectasia 32 HP:0007763
18 abnormality of cardiovascular system morphology 32 occasional (7.5%) HP:0030680
19 external ophthalmoplegia 32 HP:0000544
20 calf muscle hypertrophy 32 HP:0008981
21 restrictive deficit on pulmonary function testing 32 HP:0002111
22 shoulder girdle muscle weakness 32 HP:0003547
23 tongue atrophy 32 HP:0012473
24 shoulder girdle muscle atrophy 32 HP:0003724
25 beevor's sign 32 HP:0030664
26 exudative retinal detachment 32 HP:0012231
27 scapulohumeral muscular dystrophy 32 HP:0008970
28 abnormal eyelash morphology 32 frequent (33%) HP:0000499

Drugs & Therapeutics for Facioscapulohumeral Muscular Dystrophy 1

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Creatine Approved, Investigational, Nutraceutical Phase 2 57-00-1 586

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effect of Creatine Monohydrate on Functional Muscle Strength in Children With FSHD Recruiting NCT02948244 Phase 2
2 Clinical, Genetic and Epigenetic Characterization of Patients With FSHD Type 1 and FSHD Type 2 Unknown status NCT01970735 Not Applicable
3 Physical Training Introduction in Lifestyle of Facioscapulohumeral Dystrophy Patients Completed NCT01116570 Not Applicable
4 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
5 Study of Morphology and Functional Magnetic Resonance Imaging (MRI) Muscle Patients With Muscular Dystrophy Type FSHD Benefiting a Physical Training Introduced. Completed NCT01990976
6 Rasch-analysis of Clinical Severity in FSHD Completed NCT02766985
7 Neurological and Psychiatric Comorbidities Patients With FSHD 1 and 2 Recruiting NCT02032979 Not Applicable
8 Muscle Inflammation and Fat Infiltration in Patients Affected by FSHD Active, not recruiting NCT02541292

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 29 FRG1

Anatomical Context for Facioscapulohumeral Muscular Dystrophy 1

MalaCards organs/tissues related to Facioscapulohumeral Muscular Dystrophy 1:

41
Skeletal Muscle, Testes, Heart, Tongue, Lung, Breast, Kidney

Publications for Facioscapulohumeral Muscular Dystrophy 1

Articles related to Facioscapulohumeral Muscular Dystrophy 1:

(show top 50) (show all 500)
# Title Authors Year
1
A cre-inducible DUX4 transgenic mouse model for investigating facioscapulohumeral muscular dystrophy. ( 29415061 )
2018
2
Genotype and phenotype analysis of 43 Iranian facioscapulohumeral muscular dystrophy patients; Evidence for anticipation. ( 29402602 )
2018
3
FAT1 Gene Alteration in Facioscapulohumeral Muscular Dystrophy Type 1. ( 29436205 )
2018
4
Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p deletion syndrome. ( 30055030 )
2018
5
A "Triple Trouble" Case of Facioscapulohumeral Muscular Dystrophy Accompanied by Peripheral Neuropathy and Myoclonic Epilepsy. ( 30203790 )
2018
6
Different clinicopathological features between Japanese siblings with facioscapulohumeral muscular dystrophy 2 with a novel nonsense SMCHD1 mutation (Arg552∗). ( 30327220 )
2018
7
A Unique Case of Type-1 Facioscapulohumeral Muscular Dystrophy and Sarcomeric Hypertrophic Cardiomyopathy. ( 28697927 )
2018
8
Hypoglycemia in a Patient With Facioscapulohumeral Muscular Dystrophy. ( 29465617 )
2018
9
Acupuncture improves the facial muscular function in a case of facioscapulohumeral muscular dystrophy. ( 30508665 )
2018
10
The French National Registry of patients with Facioscapulohumeral muscular dystrophy. ( 30514324 )
2018
11
Quantitative muscle MRI and ultrasound for facioscapulohumeral muscular dystrophy: complementary imaging biomarkers. ( 30191320 )
2018
12
Phenotype-genotype relations in facioscapulohumeral muscular dystrophy type 1. ( 30211448 )
2018
13
A case of facioscapulohumeral muscular dystrophy and myasthenia gravis with positivity of anti-Ach receptor antibody: a fortuitous association? ( 30215155 )
2018
14
Cis D4Z4 repeat duplications associated with facioscapulohumeral muscular dystrophy type 2. ( 30281091 )
2018
15
A multidisciplinary clinical approach to facioscapulohumeral muscular dystrophy. ( 30335266 )
2018
16
Facioscapulohumeral Muscular Dystrophy: Update on Pathogenesis and Future Treatments. ( 30361930 )
2018
17
Isokinetic assessment of trunk muscles in facioscapulohumeral muscular dystrophy type 1 patients. ( 30415787 )
2018
18
Single-cell RNA-sequencing in facioscapulohumeral muscular dystrophy disease etiology and development. ( 30445587 )
2018
19
Dynamic transcriptomic analysis reveals suppression of PGC1α/ERRα drives perturbed myogenesis in facioscapulohumeral muscular dystrophy. ( 30462217 )
2018
20
Protein kinase A activation inhibits DUX4 gene expression in myotubes from patients with facioscapulohumeral muscular dystrophy. ( 29899111 )
2018
21
A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1. ( 29997197 )
2018
22
A patient-derived iPSC model revealed oxidative stress increases facioscapulohumeral muscular dystrophy-causative DUX4. ( 30107443 )
2018
23
Facioscapulohumeral muscular dystrophy. ( 29478599 )
2018
24
Electrical impedance myography in facioscapulohumeral muscular dystrophy: A 1-year follow-up study. ( 29543984 )
2018
25
Lifetime endogenous estrogen exposure and disease severity in female patients with facioscapulohumeral muscular dystrophy. ( 29655530 )
2018
26
Identification of Epigenetic Regulators of DUX4-fl for Targeted Therapy of Facioscapulohumeral Muscular Dystrophy. ( 29759937 )
2018
27
Clinical and genetic features of patients with facial-sparing facioscapulohumeral muscular dystrophy. ( 29112784 )
2018
28
Kinematic analysis of scapular movements in patients with facioscapulohumeral muscular dystrophy. ( 29179028 )
2018
29
MRI change metrics of facioscapulohumeral muscular dystrophy: Stir and T1. ( 29236297 )
2018
30
Multivoxel proton magnetic resonance spectroscopy in facioscapulohumeral muscular dystrophy. ( 29266323 )
2018
31
Magnetic resonance imaging in facioscapulohumeral muscular dystrophy. ( 29328515 )
2018
32
Facioscapulohumeral muscular dystrophy functional composite outcome measure. ( 29381807 )
2018
33
An instrumented timed up and go in facioscapulohumeral muscular dystrophy. ( 28877559 )
2018
34
Chronic pain has a strong impact on quality of life in facioscapulohumeral muscular dystrophy. ( 29053898 )
2018
35
Muscle Microdialysis to Investigate Inflammatory Biomarkers in Facioscapulohumeral Muscular Dystrophy. ( 28456937 )
2018
36
Facioscapulohumeral Muscular Dystrophy. ( 28915324 )
2017
37
Estrogens enhance myoblast differentiation in facioscapulohumeral muscular dystrophy by antagonizing DUX4 activity. ( 28263188 )
2017
38
Nanopore-based single molecule sequencing of the D4Z4 array responsible for facioscapulohumeral muscular dystrophy. ( 29093467 )
2017
39
PAX7 target genes are globally repressed in facioscapulohumeral muscular dystrophy skeletal muscle. ( 29255294 )
2017
40
Cardiac Abnormalities in Type 1 Facioscapulohumeral Muscular Dystrophy. ( 28538250 )
2017
41
Respiratory involvement in ambulant and non-ambulant patients with facioscapulohumeral muscular dystrophy. ( 28550484 )
2017
42
Surgical correction of hyperlordosis in facioscapulohumeral muscular dystrophy: A case report. ( 28716073 )
2017
43
p53-independent DUX4 pathology in cell and animal models of facioscapulohumeral muscular dystrophy. ( 28754837 )
2017
44
MRI as outcome measure in facioscapulohumeral muscular dystrophy: 1-year follow-up of 45 patients. ( 28000006 )
2017
45
Combined treatment with intravitreal bevacizumab and laser photocoagulation for exudative maculopathy in facioscapulohumeral muscular dystrophy. ( 28121209 )
2017
46
Short-TERM Neuromuscular Electrical Stimulation Training of the Tibialis Anterior Did Not Improve Strength and Motor Function in Facioscapulohumeral Muscular Dystrophy Patients. ( 28129235 )
2017
47
Long-term results of Letournel scapulothoracic fusion in facioscapulohumeral muscular dystrophy: A retrospective study of eight cases. ( 28159680 )
2017
48
Large family cohorts of lymphoblastoid cells provide a new cellular model for investigating facioscapulohumeral muscular dystrophy. ( 28161093 )
2017
49
Bone health in facioscapulohumeral muscular dystrophy: A cross-sectional study. ( 28214289 )
2017
50
Respiratory function in facioscapulohumeral muscular dystrophy 1. ( 28416348 )
2017

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

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

# Super pathways Score Top Affiliating Genes
1 11.8 MIR155 MIR199B MIR21 MIR214 MIR221 MIR222
2 10.81 MIR221 MIR222
3 10.71 MIR146B MIR221 MIR222
4 10.6 MIR29A MIRLET7B

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 extracellular space GO:0005615 9.73 MIR132 MIR146B MIR155 MIR199B MIR21 MIR221
2 micro-ribonucleoprotein complex GO:0035068 9.5 MIR132 MIR146B MIR154 MIR155 MIR199B MIR21

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

(show all 45)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.99 MIR21 MIR214 MIR221 MIR29A
2 positive regulation of gene expression GO:0010628 9.99 MIR132 MIR21 MIR29A MIR34A
3 negative regulation of gene expression GO:0010629 9.97 MIR132 MIR155 MIR21 MIR214 MIR29A
4 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.95 MIR21 MIR221 MIR222 MIRLET7B
5 negative regulation of cell migration GO:0030336 9.91 MIR21 MIR214 MIR29A MIR34A
6 negative regulation of inflammatory response GO:0050728 9.83 MIR155 MIR221 MIR222
7 cholesterol homeostasis GO:0042632 9.83 MIR132 MIR155 MIR34A
8 negative regulation of angiogenesis GO:0016525 9.83 MIR21 MIR214 MIR222 MIR29A MIR34A
9 negative regulation of cell migration involved in sprouting angiogenesis GO:0090051 9.8 MIR146B MIR155 MIR221
10 positive regulation of epithelial to mesenchymal transition GO:0010718 9.79 MIR21 MIR221 MIR222
11 positive regulation of vascular smooth muscle cell proliferation GO:1904707 9.76 MIR21 MIR214 MIR221 MIR222
12 positive regulation of protein kinase B signaling GO:0051897 9.73 MIR132 MIR199B MIR21 MIR221 MIR222 MIR29A
13 positive regulation of vascular endothelial cell proliferation GO:1905564 9.71 MIR132 MIR21 MIR29A
14 positive regulation of G1/S transition of mitotic cell cycle GO:1900087 9.71 MIR214 MIR221 MIR222 MIR29A
15 positive regulation of epithelial cell migration GO:0010634 9.7 MIR221 MIR222
16 negative regulation of vascular associated smooth muscle cell migration GO:1904753 9.7 MIR21 MIR214 MIR34A
17 negative regulation of cardiac muscle cell apoptotic process GO:0010667 9.69 MIR199B MIR21
18 negative regulation of sprouting angiogenesis GO:1903671 9.69 MIR221 MIR34A
19 negative regulation of cytokine production involved in inflammatory response GO:1900016 9.69 MIR155 MIR221 MIR222
20 positive regulation of erythrocyte differentiation GO:0045648 9.68 MIR221 MIR222
21 triglyceride homeostasis GO:0070328 9.68 MIR34A MIR379
22 negative regulation of vascular endothelial cell proliferation GO:1905563 9.68 MIR132 MIR34A
23 positive regulation of activated T cell proliferation GO:0042104 9.67 MIR155 MIR21
24 negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis GO:1903588 9.67 MIR155 MIR222
25 positive regulation of cardiac muscle hypertrophy GO:0010613 9.67 MIR155 MIR21
26 positive regulation of endothelial cell differentiation GO:0045603 9.67 MIR199B MIR21 MIR99B
27 positive regulation of vascular associated smooth muscle cell migration GO:1904754 9.66 MIR21 MIR221
28 positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis GO:1903589 9.66 MIR132 MIRLET7B
29 positive regulation of connective tissue replacement GO:1905205 9.65 MIR155 MIR214 MIR34A
30 positive regulation of cardiac muscle hypertrophy in response to stress GO:1903244 9.64 MIR155 MIR214
31 negative regulation by host of viral genome replication GO:0044828 9.64 MIR221 MIR222
32 positive regulation of axon regeneration GO:0048680 9.63 MIR221 MIR222
33 negative regulation of regulatory T cell differentiation GO:0045590 9.63 MIR155 MIR21
34 positive regulation of angiogenesis GO:0045766 9.63 MIR132 MIR199B MIR21 MIR29A MIR99B MIRLET7B
35 negative regulation of hydrogen peroxide-mediated programmed cell death GO:1901299 9.61 MIR21 MIRLET7B
36 negative regulation of TRAIL-activated apoptotic signaling pathway GO:1903122 9.6 MIR221 MIR222
37 negative regulation of vascular wound healing GO:0061044 9.59 MIR155 MIR34A
38 positive regulation of vascular smooth muscle cell dedifferentiation GO:1905176 9.58 MIR214 MIR221
39 negative regulation of hematopoietic stem cell proliferation GO:1902034 9.57 MIR221 MIR222
40 positive regulation of Schwann cell migration GO:1900149 9.56 MIR221 MIR222
41 positive regulation of Schwann cell proliferation involved in axon regeneration GO:1905046 9.55 MIR221 MIR222
42 negative regulation of leukocyte adhesion to vascular endothelial cell GO:1904995 9.54 MIR155 MIR221 MIR222
43 negative regulation of cell adhesion molecule production GO:0060354 9.5 MIR155 MIR221 MIR222
44 gene silencing by miRNA GO:0035195 9.5 MIR132 MIR146B MIR154 MIR155 MIR199B MIR21
45 miRNA mediated inhibition of translation GO:0035278 9.43 MIR132 MIR155 MIR21 MIR221 MIR222 MIR29A

Molecular functions related to Facioscapulohumeral Muscular Dystrophy 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mRNA binding involved in posttranscriptional gene silencing GO:1903231 9.36 MIR132 MIR146B MIR155 MIR199B MIR21 MIR214

Sources for Facioscapulohumeral Muscular Dystrophy 1

3 CDC
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