FSHD1
MCID: FCS012
MIFTS: 68

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 12 72 13 15
Facioscapulohumeral Muscular Dystrophy 57 12 73 25 20 43 58 72 36 29 15
Muscular Dystrophy, Facioscapulohumeral 73 20 43 44 70
Landouzy-Dejerine Muscular Dystrophy 57 12 73 20 72
Fshd 57 20 43 58 72
Facioscapulohumeral Muscular Dystrophy 1a 20 29 70
Fshd1a 57 20 72
Fshd1 57 12 72
Muscular Dystrophy, Facioscapulohumeral, Type 1a 57 20
Facioscapulohumeral Muscular Dystrophy Type 1a 12 72
Fsh Muscular Dystrophy 25 43
Muscular Dystrophy, Facioscapulohumeral, Type 1a; Fshd1a 57
Facioscapulohumeral Type Progressive Muscular Dystrophy 43
Facioscapulohumeral Muscular Dystrophy; Fshd; Fmd 57
Dystrophy, Muscular, Facioscapulohumeral, Type 1 39
Muscular Dystrophy, Facioscapulohumeral, Type 1 57
Facioscapulohumeral Muscular Dystrophy Type 1 12
Dystrophy, Muscular, Facioscapulohumeral 39
Facioscapuloperoneal Muscular Dystrophy 43
Muscular Dystrophy Facioscapulohumeral 54
Muscular Dystrophy, Landouzy-Dejerine 12
Landouzy Dejerine Muscular Dystrophy 12
Facio-Scapulo-Humeral Dystrophy 43
Facioscapulohumeral Dystrophy 58
Facioscapulohumeral Myopathy 58
Facioscapulohumeral Atrophy 43
Landouzy-Dejerine Dystrophy 58
Landouzy-Dejerine Myopathy 58
Fsh Dystrophy 58
Fshmd1a 20
Fmd 72

Characteristics:

Orphanet epidemiological data:

58
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 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

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


HPO:

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


GeneReviews:

25
Penetrance Penetrance is increased with smaller d4z4 repeat arrays; however, significant variation exists. 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, wohlgemuth et al 2018]. the effect of gender on penetrance and disease variability is uncertain, with data showing a lack of significant effect of lifetime estrogen exposures [mul et al 2018], or methylation status between genders [lemmers et al 2015]. effects from epigenetic factors such as methylation status (for both fshd1 and 2) and other unknown environmental or genetic factors likely contribute [mul et al 2018].

Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Facioscapulohumeral Muscular Dystrophy 1

MedlinePlus Genetics : 43 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.Weakness involving the facial muscles or shoulders is usually the first symptom of this condition. Facial muscle weakness often makes it difficult to drink from a straw, whistle, or turn up the corners of the mouth when smiling. Weakness in muscles around the eyes can prevent the eyes from closing fully while a person is asleep, which can lead to dry eyes and other eye problems. For reasons that are unclear, weakness may be more severe in one side of the face than the other. Weak shoulder muscles tend to make the shoulder blades (scapulae) protrude from the back, a common sign known as scapular winging. Weakness in muscles of the shoulders and upper arms can make it difficult to raise the arms over the head or throw a ball.The muscle weakness associated with facioscapulohumeral muscular dystrophy worsens slowly over decades and may spread to other parts of the body. Weakness in muscles of the lower legs can lead to a condition called foot drop, which affects walking and increases the risk of falls. Muscular weakness in the hips and pelvis can make it difficult to climb stairs or walk long distances. Additionally, affected individuals may have an exaggerated curvature of the lower back (lordosis) due to weak abdominal muscles. About 20 percent of affected individuals eventually require the use of a wheelchair.Additional signs and symptoms of facioscapulohumeral muscular dystrophy can include mild high-tone hearing loss and abnormalities involving the light-sensitive tissue at the back of the eye (the retina). These signs are often not noticeable and may be discovered only during medical testing. Rarely, facioscapulohumeral muscular dystrophy affects the heart (cardiac) muscle or muscles needed for breathing.Researchers have described two types of facioscapulohumeral muscular dystrophy: type 1 (FSHD1) and type 2 (FSHD2). The two types have the same signs and symptoms and are distinguished by their genetic cause.

MalaCards based summary : Facioscapulohumeral Muscular Dystrophy 1, also known as facioscapulohumeral muscular dystrophy, is related to facioscapulohumeral muscular dystrophy 2 and muscular dystrophy. An important gene associated with Facioscapulohumeral Muscular Dystrophy 1 is SMCHD1 (Structural Maintenance Of Chromosomes Flexible Hinge Domain Containing 1), and among its related pathways/superpathways are MicroRNAs in cancer and Alzheimers Disease. The drugs Creatine and Testosterone have been mentioned in the context of this disorder. Affiliated tissues include eye, skeletal muscle and retina, and related phenotypes are hyperlordosis and skeletal muscle atrophy

GARD : 20 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.

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) (Updated 05-Apr-2021)

KEGG : 36 Facioscapulohumeral muscular dystrophy (FSHD) is a usually autosomal dominant inherited form of muscular dystrophy. At disease onset, typically in the second decade of life, FSHD is characterized by initially restricted weakness of shoulder and facial muscles. With progression, the lower extremities, both distal and proximal, become involved. FSHD is caused by a reduction in the copy number of the D4Z4 macrosatellite repeat. However, the reduction of D4Z4 copy number is not sufficient by itself to cause FSHD. A number of epigenetic events appear to affect the severity of the disease, its rate of progression, and the distribution of muscle weakness.

UniProtKB/Swiss-Prot : 72 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 : 73 Facioscapulohumeral muscular dystrophy (FSHD) is a type of muscular dystrophy that preferentially... 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 312)
# Related Disease Score Top Affiliating Genes
1 facioscapulohumeral muscular dystrophy 2 32.6 SMCHD1 FRG1 DUX4 DNMT3B DBET
2 muscular dystrophy 31.6 SMCHD1 FSHMD1A FRG1 DUX4 DNMT3B DBET
3 coats disease 31.5 SMCHD1 FRG1 DUX4
4 muscular dystrophy, duchenne type 31.5 MIR369 MIR34A MIR335 MIR29A MIR222 MIR221
5 polymyositis 31.2 MIR99B MIR34A MIR222 MIR221 MIR214 MIR21
6 muscular dystrophy, limb-girdle, autosomal recessive 1 31.2 MIR199B MIR155 MIR154 MIR146B MIR132
7 digenic disease 30.9 SMCHD1 FRG1 DUX4
8 inclusion body myositis 30.8 MIR34A MIR222 MIR221 MIR214 MIR21 MIR155
9 arteries, anomalies of 30.8 MIR34A MIR222 MIR221 MIR214 MIR21 MIR155
10 immune deficiency disease 30.8 MIR34A MIR21 MIR155 MIR146B MIR132 DNMT3B
11 retinal telangiectasia 30.8 SMCHD1 DUX4
12 lipoprotein quantitative trait locus 30.7 MIR34A MIR222 MIR221 MIR21 MIR155
13 body mass index quantitative trait locus 11 30.7 MIR34A MIR29A MIR222 MIR221 MIR21 MIR155
14 disease by infectious agent 30.5 MIR34A MIR221 MIR214 MIR21 MIR155
15 leukemia, acute lymphoblastic 30.4 MIR335 MIR222 MIR221 MIR21 MIR199B MIR155
16 muscular disease 30.2 MIR221 MIR21 DUX4
17 fibromuscular dysplasia 11.6
18 frontometaphyseal dysplasia 11.5
19 otopalatodigital syndrome, type i 11.1
20 frontometaphyseal dysplasia 1 11.1
21 otopalatodigital syndrome, type ii 11.0
22 melnick-needles syndrome 11.0
23 mouth disease 10.9
24 coronary artery dissection, spontaneous 10.9
25 frontometaphyseal dysplasia 2 10.9
26 neuromuscular disease 10.7
27 sensorineural hearing loss 10.6
28 muscular atrophy 10.6
29 retinal vascular disease 10.6
30 myotonic dystrophy 10.5
31 muscle tissue disease 10.5 SMCHD1 MIR221 MIR132 DUX4
32 ovarian serous carcinoma 10.5 MIR29A MIR214 MIR21
33 bone sarcoma 10.5 MIR369 MIR335 MIR214 MIR21
34 bone inflammation disease 10.5 MIR34A MIR29A MIR21 MIR155
35 central nervous system cancer 10.5 MIR34A MIR222 MIR21 MIR155
36 sensory system disease 10.5 MIR335 MIR214 MIR21 MIR146B
37 thyroid gland disease 10.5 MIR222 MIR221 MIR146B
38 upper respiratory tract disease 10.5 MIR335 MIR21 MIR155 MIR132
39 bladder disease 10.5 MIR34A MIR214 MIR21 MIR146B
40 leiomyoma, uterine 10.5 MIR34A MIR335 MIR21
41 glioma 10.5 MIR34A MIR222 MIR221 MIR21 MIR146B
42 myasthenia gravis 10.5
43 respiratory failure 10.5
44 telangiectasis 10.5
45 bone resorption disease 10.5 MIR335 MIR222 MIR214
46 squamous cell carcinoma, head and neck 10.5 MIR221 MIR214 MIR21 MIR155 MIR146B DNMT3B
47 colonic disease 10.5 MIR34A MIR221 MIR214 MIR21 MIR155 MIR146B
48 endocrine organ benign neoplasm 10.5 MIR335 MIR221 MIR21
49 ovarian disease 10.5 MIR29A MIR222 MIR221 MIR21 MIR132
50 overnutrition 10.5 MIR34A MIR29A MIR222 MIR221 MIR21 MIR155

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

Human phenotypes related to Facioscapulohumeral Muscular Dystrophy 1:

58 31 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperlordosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0003307
2 skeletal muscle atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003202
3 elevated serum creatine kinase 58 31 hallmark (90%) Very frequent (99-80%) HP:0003236
4 emg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0003457
5 mask-like facies 58 31 hallmark (90%) Very frequent (99-80%) HP:0000298
6 sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000407
7 abnormal retinal vascular morphology 58 31 frequent (33%) Frequent (79-30%) HP:0008046
8 palpebral edema 58 31 frequent (33%) Frequent (79-30%) HP:0100540
9 abnormal eyelash morphology 31 frequent (33%) HP:0000499
10 dysphagia 31 occasional (7.5%) HP:0002015
11 abnormality of cardiovascular system morphology 31 occasional (7.5%) HP:0030680
12 intellectual disability 31 HP:0001249
13 facial palsy 31 HP:0010628
14 malformation of the heart and great vessels 58 Occasional (29-5%)
15 abnormality of the eyelashes 58 Frequent (79-30%)
16 scapular winging 31 HP:0003691
17 retinal telangiectasia 31 HP:0007763
18 external ophthalmoplegia 31 HP:0000544
19 calf muscle hypertrophy 31 HP:0008981
20 restrictive ventilatory defect 31 HP:0002091
21 abdominal wall muscle weakness 31 HP:0009023
22 shoulder girdle muscle atrophy 31 HP:0003724
23 shoulder girdle muscle weakness 31 HP:0003547
24 tongue atrophy 31 HP:0012473
25 beevor's sign 31 HP:0030664
26 exudative retinal detachment 31 HP:0012231
27 seizure 31 HP:0001250
28 scapulohumeral muscular dystrophy 31 HP:0008970

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Chest Ribs Sternum Clavicles And Scapulae:
scapular winging

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

Laboratory Abnormalities:
increased serum creatine kinase

Head And Neck Face:
facial muscle weakness and atrophy

Abdomen Gastrointestinal:
dysphagia (less common)

Head And Neck Mouth:
tongue atrophy

Head And Neck Ears:
sensorineural hearing loss

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

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 (Updated 05-Apr-2021)

Drugs & Therapeutics for Facioscapulohumeral Muscular Dystrophy 1

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

(show all 36)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Creatine Approved, Investigational, Nutraceutical Phase 2 57-00-1 586
2
Testosterone Approved, Investigational Phase 1 58-22-0 6013
3
Methyltestosterone Approved Phase 1 58-18-4 6010
4
Testosterone undecanoate Approved, Investigational Phase 1 5949-44-0
5
Testosterone enanthate Approved Phase 1 315-37-7 9416
6 Anabolic Agents Phase 1
7 Hormone Antagonists Phase 1
8 Testosterone 17 beta-cypionate Phase 1
9 Hormones Phase 1
10 Antineoplastic Agents, Hormonal Phase 1
11 Androgens Phase 1
12
Selenium Approved, Investigational, Vet_approved 7782-49-2
13
Tocopherol Approved, Investigational 1406-66-2
14
Oxandrolone Approved, Investigational 53-39-4 5878
15
Vitamin C Approved, Nutraceutical 50-81-7 5785 54670067
16
Vitamin E Approved, Nutraceutical, Vet_approved 59-02-9 14985
17 Tocotrienol Investigational 6829-55-6
18 Nutrients
19 Trace Elements
20 Micronutrients
21 Protective Agents
22 Vitamins
23 Tocotrienols
24 Tocopherols
25 Adrenergic Agonists
26 Neurotransmitter Agents
27 Adrenergic beta-Agonists
28 Respiratory System Agents
29 Albuterol
30 Tocolytic Agents
31 Adrenergic Agents
32 Bronchodilator Agents
33 Anti-Asthmatic Agents
34 Whey Protein
35 Antioxidants
36 Cola

Interventional clinical trials:

(show all 45)
# Name Status NCT ID Phase Drugs
1 A Placebo-Controlled, Randomized, Multiple Ascending Dose Study to Evaluate the Safety, Tolerability, Pharmacokinetics (PK), and Biological Activity of ATYR1940 in Adult Patients With Molecularly Defined Genetic Muscular Dystrophies Completed NCT02239224 Phase 1, Phase 2
2 An Open-Label, Intrapatient Dose-Escalation Study to Evaluate the Safety, Tolerability, Immunogenicity, and Biological Activity of ATYR1940 in Patients With Early Onset and Other Pediatric Onset Facioscapulohumeral Muscular Dystrophy Completed NCT02603562 Phase 1, Phase 2
3 A Phase 2, Randomized, Double-Blind, Placebo-Controlled, 48-Week, Parallel-Group Study of the Efficacy and Safety of Losmapimod in Treating Subjects With Facioscapulohumeral Muscular Dystrophy (FSHD) Completed NCT04003974 Phase 2 Losmapimod;Placebo oral tablet
4 An Open-Label Extension Study to Evaluate the Long-Term Safety, Tolerability, Biological Activity, and Systemic Exposure of ATYR1940 in Adult Patients With Fascioscapulohumeral Muscular Dystrophy (FSHD) Completed NCT02531217 Phase 1, Phase 2
5 An Open-Label Extension 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
6 An Open-Label, Intrapatient Dose Escalation Study to Evaluate the Safety, Tolerability, Immunogenicity, and Biological Activity of ATYR1940 in Patients With Limb Girdle and Facioscapulohumeral Muscular Dystrophies Completed NCT02579239 Phase 1, Phase 2
7 Study Evaluating MYO-029 in Adult Muscular Dystrophy Completed NCT00104078 Phase 1, Phase 2 MYO-029
8 Effect of Creatine Monohydrate on Functional Muscle Strength and Muscle Mass in Children With FSHD: a Multi-centre, Randomised, Double-blind Placebo-controlled Crossover Trial Recruiting NCT02948244 Phase 2
9 An Open-Label Pilot Study of Losmapimod to Evaluate the Safety, Tolerability, and Changes in Biomarker and Clinical Outcome Assessments in Subjects With Facioscapulohumeral Muscular Dystrophy 1 (FSHD1) Active, not recruiting NCT04004000 Phase 2 Losmapimod
10 A Phase 2, Randomized, Double-Blind, Placebo-Controlled, 48-Week, Parallel-Group Study of the Efficacy and Safety of Losmapimod in Treating Subjects With Facioscapulohumeral Muscular Dystrophy (FSHD) With Open-Label Extension (OLE) Enrolling by invitation NCT04264442 Phase 2 Losmapimod
11 An Open-Label Extension Study to Evaluate the Long-Term Effects of ACE-083 in Patients With Facioscapulohumeral Muscular Dystrophy (FSHD) Previously Enrolled in Study A083-02 and in Patients With Charcot-Marie Tooth (CMT) Disease Types 1 and X Previously Enrolled in Study A083-03 Terminated NCT03943290 Phase 2 ACE-083
12 A Phase 2 Randomized, Double-Blind, Placebo-Controlled Study of ACE-083 in Patients With Facioscapulohumeral Muscular Dystrophy Terminated NCT02927080 Phase 2 ACE-083;ACE-083 or placebo
13 Intramuscular Transplantation of Autologous Muscle Derived Stem Cell(MDSC) and Adipose Derived Mesenchymal Stem Cells (AD-MSC) in Patients With Facioscapulohumeral Dystrophy (FSHD), Phase I Clinical Trial Unknown status NCT02208713 Phase 1
14 Study of Testosterone and rHGH in FSHD (STARFISH): A Proof-of-Concept Study Recruiting NCT03123913 Phase 1 Testosterone Enanthate;Somatropin
15 Muscle Inflammation and Fat Infiltration in Patients Affected by FSHD Unknown status NCT02541292
16 Clinical, Genetic and Epigenetic Characterization of Patients With FSHD Type 1 and FSHD Type 2 Unknown status NCT01970735
17 Neurological and Psychiatric Comorbidities Patients With FSHD 1 and 2 Unknown status NCT02032979
18 Electrostimulation of Shoulder Girdle and Quadriceps Muscles in Facioscapulohumeral Muscular Dystrophy Patients Completed NCT00821548
19 Disease Progression in Facioscapulohumeral Muscular Dystrophy - 1 Year MRI Follow-up Completed NCT02159612
20 Arm Cycling in Facioscapulohumeral Dystrophy (FSHD) Patients Completed NCT04267354
21 Effects of Antioxidants Supplementation on Muscular Function of Patients Affected by Facioscapulohumeral Dystrophy (FSHD) Completed NCT01596803
22 High Intensity Interval Training in Patients With Facioscapulohumeral Muscular Dystrophy Completed NCT02159963
23 Rasch-analysis of Clinical Severity in FSHD Completed NCT02766985
24 Randomized Study of Albuterol in Patients With Facioscapulohumeral Muscular Dystrophy Completed NCT00004685 albuterol
25 A Multicenter Collaborative Study on the Clinical Features, Expression Profiling, and Quality of Life of Infantile Onset Facioscapulohumeral Muscular Dystrophy Completed NCT01437345
26 Bone Health in Facioscapulohumeral Muscular Dystrophy: A Cross-sectional Study Completed NCT02413190
27 Exercise and Myopathies. Physical Training Introduction in Lifestyle of Facioscapulohumeral Dystrophy Patients: Functional, Tissue and Quality of Life Benefits. Completed NCT01116570
28 Prospective Study for 24-months of Physical Training Introduced in Lifestyle of Patients With Facioscapulohumeral Dystrophy : Tolerance, Sustainability and Efficiency of Unsupervised Training Program. Completed NCT01689480
29 Facioscapulohumeral Dystrophy in Children: a Prospective, Observational Study on the Natural History, Predictors and Clinical Impact (iFocus) Completed NCT02625662
30 Evaluation of a Method to Support Unstable Shoulders by Means of a Textile Scapula Orthosis Completed NCT04154098
31 The Effect of Protein Supplementation Doing Regular Exercise in Patients With Facioscapulohumeral Muscular Dystrophy - a Blinded RCT Study Completed NCT01618331
32 Clinical Trials of Albuterol and Oxandrolone in FSH Dystrophy Completed NCT00027391 Albuterol;Oxandrolone
33 Study of Morphology and Functional Magnetic Resonance Imaging (MRI) Muscle Patients With Muscular Dystrophy Type FSHD Benefiting a Physical Training Introduced. Completed NCT01990976
34 Computerized Facial Recognition for Automated Diagnosis of the Facio-Scapulo-Humeral Muscular Dystrophy (FSMHD): Pilot Study Recruiting NCT04377217
35 Clinical Trial Readiness to Solve Barriers to Drug Development in FSHD Recruiting NCT03458832
36 A Registered Observational Cohort Study of Facioscapulohumeral Muscular Dystrophy Recruiting NCT04369209
37 The UK Facioscapulohumeral Muscular Dystrophy Patient Registry Recruiting NCT04001582
38 National Registry of Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Patients and Family Members Recruiting NCT00082108
39 Motor Outcomes to Validate Evaluations in FSHD (MOVE FSHD) Recruiting NCT04635891
40 A Multi-Site Tissue Repository Providing Annotated Biospecimens for Approved Investigator-Directed Biomedical Research Initiatives Recruiting NCT01931644
41 Course and Follow up of Patients Affected by Facioscapulohumeral Dystrophy Recruiting NCT02622438
42 Magnetic Resonance Imaging and Spectroscopy Biomarkers for Facioscapulohumeral Muscular Dystrophy Active, not recruiting NCT01671865
43 Pro-inflammatory Cytokines as Potential Therapeutic Target in Type 1 Facioscapulohumeral Muscular Dystrophy: Pilot Study Active, not recruiting NCT04694456
44 Clinical Trial Readiness Network FSHD France: Prospective 18 Months MRI Study Not yet recruiting NCT04038138
45 Effects of NMES on Muscle Function of Patients With FSHD: a Double-blind Randomized Controlled Clinical Trial Terminated NCT02861911

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
2 Facioscapulohumeral Muscular Dystrophy 1a 29 FRG1

Anatomical Context for Facioscapulohumeral Muscular Dystrophy 1

MalaCards organs/tissues related to Facioscapulohumeral Muscular Dystrophy 1:

40
Eye, Skeletal Muscle, Retina, Tongue, Heart, Bone, Breast

Publications for Facioscapulohumeral Muscular Dystrophy 1

Articles related to Facioscapulohumeral Muscular Dystrophy 1:

(show top 50) (show all 1068)
# Title Authors PMID Year
1
The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1. 6 57 61
24075187 2013
2
Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2. 61 6 25
25256356 2015
3
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. 25 61 6
23143600 2012
4
A unifying genetic model for facioscapulohumeral muscular dystrophy. 57 25 61
20724583 2010
5
Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sample. 61 57 25
19320656 2009
6
Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy. 57 25 61
17924332 2007
7
Mechanism and timing of mitotic rearrangements in the subtelomeric D4Z4 repeat involved in facioscapulohumeral muscular dystrophy. 61 25 57
15154112 2004
8
Possible phenotypic dosage effect in patients compound heterozygous for FSHD-sized 4q35 alleles. 57 25 61
14557558 2003
9
D4F104S1 deletion in facioscapulohumeral muscular dystrophy: phenotype, size, and detection. 61 57 25
12874395 2003
10
Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere. 61 25 57
12355084 2002
11
De novo facioscapulohumeral muscular dystrophy: frequent somatic mosaicism, sex-dependent phenotype, and the role of mitotic transchromosomal repeat interaction between chromosomes 4 and 10. 61 57 25
10631134 2000
12
The facioscapulohumeral muscular dystrophy (FSHD1) gene affects males more severely and more frequently than females. 25 57 61
9605290 1998
13
Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy. The FSH-DY Group. 61 57 25
8651646 1996
14
High proportion of new mutations and possible anticipation in Brazilian facioscapulohumeral muscular dystrophy families. 61 57 25
7825608 1995
15
Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystrophy. 61 57 25
7987304 1994
16
Genetic counselling in facioscapulohumeral muscular dystrophy. 61 57 25
1941962 1991
17
Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1. 54 61 57
16341202 2006
18
Extreme variability of expression in monozygotic twins with FSH muscular dystrophy. 61 54 57
8094896 1993
19
The variability of SMCHD1 gene in FSHD patients: evidence of new mutations. 61 6
31600781 2019
20
PAX7 target gene repression is a superior FSHD biomarker than DUX4 target gene activation, associating with pathological severity and identifying FSHD at the single-cell level. 61 57
31067297 2019
21
Different clinicopathological features between Japanese siblings with facioscapulohumeral muscular dystrophy 2 with a novel nonsense SMCHD1 mutation (Arg552∗). 6 61
30327220 2018
22
Digenic Inheritance of Shortened Repeat Units of the D4Z4 Region and a Loss-of-Function Variant in SMCHD1 in a Family With FSHD. 6 61
30546343 2018
23
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development. 61 6
28067911 2017
24
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. 6 61
28067909 2017
25
Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy. 57 61
22482803 2012
26
Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled? 57 61
21984394 2012
27
Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling. 57 61
22217918 2012
28
Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity. 57 61
21984748 2012
29
The Krüppel-like factor 15 as a molecular link between myogenic factors and a chromosome 4q transcriptional enhancer implicated in facioscapulohumeral dystrophy. 57 61
21937448 2011
30
DUX4, a candidate gene for facioscapulohumeral muscular dystrophy, causes p53-dependent myopathy in vivo. 57 61
21446026 2011
31
Distinguishing the 4qA and 4qB variants is essential for the diagnosis of facioscapulohumeral muscular dystrophy in the Chinese population. 61 57
20736973 2011
32
Analysis of allele-specific RNA transcription in FSHD by RNA-DNA FISH in single myonuclei. 61 57
19888305 2010
33
Pearls in the junk: dissecting the molecular pathogenesis of facioscapulohumeral muscular dystrophy. 57 61
18974002 2009
34
Alteration of expression of muscle specific isoforms of the fragile X related protein 1 (FXR1P) in facioscapulohumeral muscular dystrophy patients. 61 57
18628314 2008
35
An isogenetic myoblast expression screen identifies DUX4-mediated FSHD-associated molecular pathologies. 57 61
18833193 2008
36
DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1. 61 57
17984056 2007
37
Evolutionary conservation of a coding function for D4Z4, the tandem DNA repeat mutated in facioscapulohumeral muscular dystrophy. 57 61
17668377 2007
38
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. 61 57
16987949 2007
39
Genotype-phenotype study in an FSHD family with a proximal deletion encompassing p13E-11 and D4Z4. 61 57
17229919 2007
40
Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy. 61 57
17151338 2007
41
Dysphagia in facioscapulohumeral muscular dystrophy. 57 61
16801662 2006
42
Equal proportions of affected cells in muscle and blood of a mosaic carrier of facioscapulohumeral muscular dystrophy. 57 61
16341710 2006
43
Sarcolemmal reorganization in facioscapulohumeral muscular dystrophy. 57 61
16437580 2006
44
Altered gene silencing and human diseases. 61 57
16451126 2006
45
Variable hypomethylation of D4Z4 in facioscapulohumeral muscular dystrophy. 61 57
16178028 2005
46
The D4Z4 repeat-mediated pathogenesis of facioscapulohumeral muscular dystrophy. 57 61
15674778 2005
47
Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy. 61 57
15467981 2004
48
Somatic mosaicism in FSHD often goes undetected. 61 57
15174019 2004
49
Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy. 57 61
14634647 2003
50
Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation. 61 57
14519683 2003

Variations for Facioscapulohumeral Muscular Dystrophy 1

ClinVar genetic disease variations for Facioscapulohumeral Muscular Dystrophy 1:

6 (show top 50) (show all 175)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SMCHD1 NM_015295.2(SMCHD1):c.4459C>T (p.Gln1487Ter) SNV Pathogenic 689561 rs1329504858 GRCh37: 18:2762127-2762127
GRCh38: 18:2762129-2762129
2 SMCHD1 NM_015295.2(SMCHD1):c.1302_1306del (p.Tyr434_Arg436delinsTer) Deletion Pathogenic 39855 rs387907319 GRCh37: 18:2697996-2698000
GRCh38: 18:2697998-2698002
3 SMCHD1 NM_015295.2(SMCHD1):c.2068C>T (p.Pro690Ser) SNV Pathogenic 39856 rs397514623 GRCh37: 18:2707565-2707565
GRCh38: 18:2707567-2707567
4 SMCHD1 NM_015295.2(SMCHD1):c.1608del (p.Asp537fs) Deletion Pathogenic 39857 rs1057519614 GRCh37: 18:2700875-2700875
GRCh38: 18:2700877-2700877
5 SMCHD1 SMCHD1, IVS29DS, G-A, +1 SNV Pathogenic 39858 GRCh37:
GRCh38:
6 SMCHD1 NM_015295.2(SMCHD1):c.4566G>A (p.Thr1522=) SNV Pathogenic 39859 rs1598416221 GRCh37: 18:2762234-2762234
GRCh38: 18:2762236-2762236
7 SMCHD1 NM_015295.2(SMCHD1):c.410G>A (p.Gly137Glu) SNV Pathogenic 375765 rs1057519644 GRCh37: 18:2667016-2667016
GRCh38: 18:2667017-2667017
8 SMCHD1 NM_015295.2(SMCHD1):c.408A>C (p.Glu136Asp) SNV Pathogenic 375764 rs1057519643 GRCh37: 18:2667014-2667014
GRCh38: 18:2667015-2667015
9 SMCHD1 NM_015295.2(SMCHD1):c.1040+1G>A SNV Pathogenic 464158 rs1245372794 GRCh37: 18:2694692-2694692
GRCh38: 18:2694694-2694694
10 SMCHD1 NM_015295.2(SMCHD1):c.1030C>T (p.Arg344Ter) SNV Pathogenic 280772 rs886041918 GRCh37: 18:2694681-2694681
GRCh38: 18:2694683-2694683
11 SMCHD1 NM_015295.2(SMCHD1):c.4104del (p.Val1369fs) Deletion Pathogenic 532807 rs1555647265 GRCh37: 18:2750442-2750442
GRCh38: 18:2750444-2750444
12 SMCHD1 NM_015295.2(SMCHD1):c.3484C>T (p.Gln1162Ter) SNV Pathogenic 532808 rs1555644339 GRCh37: 18:2739488-2739488
GRCh38: 18:2739490-2739490
13 SMCHD1 NM_015295.2(SMCHD1):c.4821dup (p.Ile1608fs) Duplication Pathogenic 574293 rs1568350731 GRCh37: 18:2769792-2769793
GRCh38: 18:2769794-2769795
14 SMCHD1 NM_015295.3(SMCHD1):c.3272_3275del (p.Ile1091fs) Deletion Pathogenic 862319 GRCh37: 18:2732484-2732487
GRCh38: 18:2732486-2732489
15 SMCHD1 NM_015295.3(SMCHD1):c.4231dup (p.Ser1411fs) Duplication Pathogenic 863299 GRCh37: 18:2751338-2751339
GRCh38: 18:2751340-2751341
16 SMCHD1 NM_015295.3(SMCHD1):c.2178_2179del (p.Glu728fs) Deletion Pathogenic 933781 GRCh37: 18:2707836-2707837
GRCh38: 18:2707838-2707839
17 SMCHD1 NM_015295.3(SMCHD1):c.1654C>T (p.Arg552Ter) SNV Pathogenic 942587 GRCh37: 18:2703696-2703696
GRCh38: 18:2703698-2703698
18 SMCHD1 NM_015295.3(SMCHD1):c.3434del (p.Pro1145fs) Deletion Pathogenic 958410 GRCh37: 18:2739437-2739437
GRCh38: 18:2739439-2739439
19 SMCHD1 NM_015295.3(SMCHD1):c.3234_3235del (p.Glu1080fs) Deletion Pathogenic 971914 GRCh37: 18:2732447-2732448
GRCh38: 18:2732449-2732450
20 SMCHD1 NM_015295.3(SMCHD1):c.182_183dup (p.Gln62fs) Microsatellite Pathogenic 1012230 GRCh37: 18:2656247-2656248
GRCh38: 18:2656248-2656249
21 SMCHD1 NM_015295.3(SMCHD1):c.3469G>T (p.Gly1157Ter) SNV Pathogenic 1012231 GRCh37: 18:2739473-2739473
GRCh38: 18:2739475-2739475
22 SMCHD1 NM_015295.2:c.5150_5151delAA Deletion Pathogenic 1012232 GRCh37:
GRCh38:
23 SMCHD1 NM_015295.3(SMCHD1):c.2129dup (p.Ala711fs) Duplication Pathogenic 1012233 GRCh37: 18:2707624-2707625
GRCh38: 18:2707626-2707627
24 SMCHD1 NM_015295.3(SMCHD1):c.87C>A (p.Tyr29Ter) SNV Pathogenic 955145 GRCh37: 18:2656161-2656161
GRCh38: 18:2656162-2656162
25 SMCHD1 NM_015295.2(SMCHD1):c.790G>A (p.Glu264Lys) SNV Likely pathogenic 689564 rs867104086 GRCh37: 18:2688662-2688662
GRCh38: 18:2688664-2688664
26 SMCHD1 NM_015295.2(SMCHD1):c.4719+1G>T SNV Likely pathogenic 532805 rs886044369 GRCh37: 18:2763788-2763788
GRCh38: 18:2763790-2763790
27 SMCHD1 NM_015295.2(SMCHD1):c.4966+5G>A SNV Likely pathogenic 637006 rs1598426626 GRCh37: 18:2770111-2770111
GRCh38: 18:2770113-2770113
28 SMCHD1 NM_015295.2(SMCHD1):c.1286_1288ATC[1] (p.His430del) Microsatellite Likely pathogenic 291312 rs886044914 GRCh37: 18:2697983-2697985
GRCh38: 18:2697985-2697987
29 SMCHD1 NM_015295.2(SMCHD1):c.3679G>C (p.Gly1227Arg) SNV Likely pathogenic 446476 rs1204021010 GRCh37: 18:2743804-2743804
GRCh38: 18:2743806-2743806
30 SMCHD1 NM_015295.2(SMCHD1):c.3529G>T (p.Asp1177Tyr) SNV Likely pathogenic 560349 rs1568280995 GRCh37: 18:2740715-2740715
GRCh38: 18:2740717-2740717
31 SMCHD1 NM_015295.2(SMCHD1):c.2384T>C (p.Val795Ala) SNV Uncertain significance 560350 rs1480135119 GRCh37: 18:2718358-2718358
GRCh38: 18:2718360-2718360
32 SMCHD1 NM_015295.2(SMCHD1):c.694A>G (p.Ile232Val) SNV Uncertain significance 560357 rs1568143698 GRCh37: 18:2688447-2688447
GRCh38: 18:2688449-2688449
33 SMCHD1 NM_015295.2(SMCHD1):c.3097A>G (p.Ser1033Gly) SNV Uncertain significance 637007 rs1598380521 GRCh37: 18:2732311-2732311
GRCh38: 18:2732313-2732313
34 SMCHD1 NM_015295.2(SMCHD1):c.89T>G (p.Leu30Trp) SNV Uncertain significance 689562 rs1598264942 GRCh37: 18:2656163-2656163
GRCh38: 18:2656164-2656164
35 SMCHD1 NM_015295.2(SMCHD1):c.1172A>G (p.Asn391Ser) SNV Uncertain significance 689563 rs1598331615 GRCh37: 18:2697869-2697869
GRCh38: 18:2697871-2697871
36 SMCHD1 NM_015295.2(SMCHD1):c.4255A>G (p.Thr1419Ala) SNV Uncertain significance 532802 rs191487554 GRCh37: 18:2751365-2751365
GRCh38: 18:2751367-2751367
37 SMCHD1 NM_015295.2(SMCHD1):c.5775T>A (p.Asp1925Glu) SNV Uncertain significance 532803 rs374989057 GRCh37: 18:2796002-2796002
GRCh38: 18:2796004-2796004
38 SMCHD1 NM_015295.2(SMCHD1):c.3971G>A (p.Arg1324Lys) SNV Uncertain significance 532804 rs1555647170 GRCh37: 18:2750084-2750084
GRCh38: 18:2750086-2750086
39 SMCHD1 NM_015295.2(SMCHD1):c.4108C>T (p.Arg1370Cys) SNV Uncertain significance 448425 rs942559171 GRCh37: 18:2750448-2750448
GRCh38: 18:2750450-2750450
40 SMCHD1 NM_015295.2(SMCHD1):c.1202C>T (p.Thr401Met) SNV Uncertain significance 464162 rs1555632935 GRCh37: 18:2697899-2697899
GRCh38: 18:2697901-2697901
41 SMCHD1 NM_015295.2(SMCHD1):c.4601T>C (p.Val1534Ala) SNV Uncertain significance 464167 rs1555650440 GRCh37: 18:2763669-2763669
GRCh38: 18:2763671-2763671
42 SMCHD1 NM_015295.2(SMCHD1):c.15C>A (p.Asp5Glu) SNV Uncertain significance 464163 rs769401596 GRCh37: 18:2656089-2656089
GRCh38: 18:2656090-2656090
43 SMCHD1 NM_015295.2(SMCHD1):c.2731T>A (p.Leu911Ile) SNV Uncertain significance 464165 rs770371694 GRCh37: 18:2726480-2726480
GRCh38: 18:2726482-2726482
44 SMCHD1 NM_015295.2(SMCHD1):c.4598T>C (p.Leu1533Ser) SNV Uncertain significance 289129 rs368255259 GRCh37: 18:2763666-2763666
GRCh38: 18:2763668-2763668
45 SMCHD1 NM_015295.2(SMCHD1):c.4894C>G (p.Gln1632Glu) SNV Uncertain significance 464168 rs1365539591 GRCh37: 18:2770034-2770034
GRCh38: 18:2770036-2770036
46 SMCHD1 NM_015295.2(SMCHD1):c.3209T>C (p.Ile1070Thr) SNV Uncertain significance 286021 rs113434340 GRCh37: 18:2732423-2732423
GRCh38: 18:2732425-2732425
47 SMCHD1 NM_015295.2(SMCHD1):c.4178G>C (p.Ser1393Thr) SNV Uncertain significance 498187 rs369758530 GRCh37: 18:2751288-2751288
GRCh38: 18:2751290-2751290
48 SMCHD1 NM_015295.2(SMCHD1):c.3260T>C (p.Leu1087Ser) SNV Uncertain significance 532809 rs930009782 GRCh37: 18:2732474-2732474
GRCh38: 18:2732476-2732476
49 SMCHD1 NM_015295.2(SMCHD1):c.1390G>T (p.Ala464Ser) SNV Uncertain significance 283749 rs752328609 GRCh37: 18:2700584-2700584
GRCh38: 18:2700586-2700586
50 SMCHD1 NM_015295.2(SMCHD1):c.4105G>A (p.Val1369Ile) SNV Uncertain significance 289681 rs375198512 GRCh37: 18:2750445-2750445
GRCh38: 18:2750447-2750447

Copy number variations for Facioscapulohumeral Muscular Dystrophy 1 from CNVD:

7
# CNVD ID Chromosome 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 11.81 MIR34A MIR335 MIR29A MIR222 MIR221 MIR214
2 11.63 MIR29A MIR21 MIR199B MIR132
3 10.71 MIR222 MIR221 MIR146B

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 9.65 MIR99B MIR335 MIR29A MIR222 MIR221 MIR21
2 extracellular vesicle GO:1903561 9.1 MIR34A MIR29A MIR222 MIR221 MIR214 MIR21

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

(show all 39)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 10.04 MIR29A MIR221 MIR214 MIR21 DUX4
2 positive regulation of gene expression GO:0010628 10 MIR34A MIR29A MIR21 MIR155 MIR154 MIR132
3 negative regulation of cell migration GO:0030336 9.93 MIR34A MIR29A MIR214 MIR21
4 positive regulation of angiogenesis GO:0045766 9.92 MIR99B MIR29A MIR21 MIR199B MIR132
5 negative regulation of inflammatory response GO:0050728 9.85 MIR222 MIR221 MIR155
6 cellular response to hypoxia GO:0071456 9.85 MIR34A MIR214 MIR155
7 cholesterol homeostasis GO:0042632 9.84 MIR34A MIR155 MIR132
8 positive regulation of endothelial cell migration GO:0010595 9.82 MIR29A MIR21 MIR199B
9 positive regulation of epithelial to mesenchymal transition GO:0010718 9.81 MIR222 MIR221 MIR21
10 negative regulation of cytokine production involved in inflammatory response GO:1900016 9.8 MIR222 MIR221 MIR155
11 positive regulation of vascular smooth muscle cell proliferation GO:1904707 9.8 MIR222 MIR221 MIR214 MIR21
12 negative regulation of angiogenesis GO:0016525 9.8 MIR34A MIR29A MIR222 MIR214 MIR21
13 negative regulation of cell migration involved in sprouting angiogenesis GO:0090051 9.78 MIR221 MIR199B MIR155 MIR146B
14 positive regulation of vascular endothelial cell proliferation GO:1905564 9.76 MIR29A MIR21 MIR132
15 negative regulation of vascular associated smooth muscle cell migration GO:1904753 9.75 MIR34A MIR214 MIR21
16 negative regulation of necroptotic process GO:0060546 9.74 MIR221 MIR214 MIR155
17 positive regulation of endothelial cell differentiation GO:0045603 9.73 MIR99B MIR21 MIR199B
18 positive regulation of protein kinase B signaling GO:0051897 9.73 MIR29A MIR222 MIR221 MIR21 MIR199B MIR132
19 negative regulation of cell adhesion molecule production GO:0060354 9.72 MIR222 MIR221 MIR155
20 positive regulation of connective tissue replacement GO:1905205 9.71 MIR34A MIR214 MIR155
21 negative regulation of gene expression GO:0010629 9.7 MIR34A MIR29A MIR214 MIR21 MIR155 MIR154
22 negative regulation by host of viral genome replication GO:0044828 9.69 MIR222 MIR221 MIR155
23 positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis GO:1903589 9.68 MIR21 MIR132
24 positive regulation of cardiac muscle hypertrophy GO:0010613 9.68 MIR21 MIR155
25 negative regulation of innate immune response GO:0045824 9.67 MIR21 MIR155
26 positive regulation of G1/S transition of mitotic cell cycle GO:1900087 9.67 MIR29A MIR222 MIR221 MIR214
27 positive regulation of cardiac muscle hypertrophy in response to stress GO:1903244 9.66 MIR214 MIR155
28 positive regulation of axon regeneration GO:0048680 9.65 MIR222 MIR221
29 negative regulation of vascular wound healing GO:0061044 9.65 MIR34A MIR155
30 negative regulation of regulatory T cell differentiation GO:0045590 9.64 MIR21 MIR155
31 positive regulation of vascular smooth muscle cell dedifferentiation GO:1905176 9.62 MIR221 MIR214
32 negative regulation of TRAIL-activated apoptotic signaling pathway GO:1903122 9.61 MIR222 MIR221
33 positive regulation of Schwann cell migration GO:1900149 9.61 MIR222 MIR221
34 negative regulation of leukocyte adhesion to vascular endothelial cell GO:1904995 9.61 MIR222 MIR221 MIR155
35 positive regulation of Schwann cell proliferation involved in axon regeneration GO:1905046 9.6 MIR222 MIR221
36 negative regulation of hematopoietic stem cell proliferation GO:1902034 9.59 MIR222 MIR221
37 negative regulation of interleukin-21 production GO:0032705 9.5 MIR222 MIR221 MIR21
38 gene silencing by miRNA GO:0035195 9.47 MIR99B MIR369 MIR34A MIR335 MIR29A MIR222
39 miRNA mediated inhibition of translation GO:0035278 9.43 MIR29A MIR222 MIR221 MIR21 MIR155 MIR132

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 MIR34A MIR29A MIR222 MIR221 MIR214 MIR21
2 mRNA 3'-UTR binding GO:0003730 9.26 MIR34A MIR29A MIR21 MIR154

Sources for Facioscapulohumeral Muscular Dystrophy 1

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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