MCID: FCS012
MIFTS: 66

Facioscapulohumeral Muscular Dystrophy 1

Categories: Rare diseases, Neuronal diseases, Muscle diseases, Genetic 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
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 muscular dystrophy, becker type and fibromuscular 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 drugs Creatine and Pharmaceutical Solutions have 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

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.

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.

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.

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 56)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, becker type 30.2 MIR146B MIR221
2 fibromuscular dysplasia 12.0
3 frontometaphyseal dysplasia 11.6
4 otopalatodigital syndrome, type i 11.1
5 facioscapulohumeral muscular dystrophy 2 11.1
6 frontometaphyseal dysplasia 1 11.1
7 otopalatodigital syndrome, type ii 11.0
8 melnick-needles syndrome 11.0
9 coronary artery dissection, spontaneous 10.9
10 frontometaphyseal dysplasia 2 10.9
11 leiomyoma, uterine 10.6 MIR21 MIR335 MIR34A
12 miyoshi muscular dystrophy 1 10.6 MIR335 MIR34A MIR376C
13 nonalcoholic fatty liver disease 10.5 MIR132 MIR154 MIR34A
14 pancreatic ductal adenocarcinoma 10.3 MIR155 MIR21 MIR221
15 ovarian serous carcinoma 10.3 MIR21 MIR214 MIR29A MIRLET7B
16 mouth disease 10.3
17 diffuse large b-cell lymphoma 10.2 MIR155 MIR21 MIR221
18 autism spectrum disorder 10.1 MIR132 MIR146B MIR21
19 muscular dystrophy 10.1
20 aneurysm 10.1
21 glioma 10.1 MIR146B MIR21 MIR221 MIR222 MIR34A
22 glioblastoma 10.1 MIR21 MIR221 MIR222 MIR34A
23 glioblastoma multiforme 10.0 MIR132 MIR155 MIR21 MIR221
24 myopathy 10.0
25 squamous cell carcinoma, head and neck 10.0 MIR146B MIR155 MIR21 MIR214 MIR221
26 gastric cancer 9.9 MIR21 MIR214 MIR221 MIR222 MIR34A
27 systemic lupus erythematosus 9.8
28 ischemia 9.8
29 cerebritis 9.8
30 lupus erythematosus 9.8
31 familial hypertension 9.8
32 endotheliitis 9.8
33 bethlem myopathy 1 9.8
34 coats disease 9.8
35 rippling muscle disease 2 9.8
36 polyglucosan body myopathy 1 with or without immunodeficiency 9.8
37 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.8
38 neovascular glaucoma 9.8
39 congenital myasthenic syndrome 9.8
40 myeloma, multiple 9.8 MIR335 MIR99B MIRLET7B
41 melanoma 9.7 MIR154 MIR199B MIR221 MIR222 MIR34A MIRLET7B
42 pancreatic cancer 9.7 MIR155 MIR21 MIR214 MIR221 MIR222 MIR34A
43 polymyositis 9.7 MIR132 MIR146B MIR155 MIR21 MIR222 MIR379
44 inclusion body myositis 9.7 MIR146B MIR155 MIR21 MIR214 MIR221 MIR222
45 leukemia, chronic lymphocytic 9.5 MIR132 MIR154 MIR155 MIR21 MIR221 MIR29A
46 oral squamous cell carcinoma 9.5 MIR132 MIR155 MIR199B MIR21 MIR221 MIR29A
47 leukemia, acute lymphoblastic 9.5 MIR155 MIR199B MIR21 MIR221 MIR222 MIR335
48 leukemia, acute myeloid 9.5 MIR155 MIR199B MIR21 MIR221 MIR222 MIR335
49 ovarian cancer 9.4 MIR146B MIR155 MIR21 MIR214 MIR221 MIR222
50 thyroid cancer, nonmedullary, 1 9.1 MIR146B MIR155 MIR199B MIR21 MIR221 MIR222

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 27)
# 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 eyelashes 59 32 frequent (33%) Frequent (79-30%) HP:0000499
8 abnormality of the retinal vasculature 59 32 frequent (33%) Frequent (79-30%) HP:0008046
9 palpebral edema 59 32 frequent (33%) Frequent (79-30%) HP:0100540
10 intellectual disability 32 HP:0001249
11 seizures 32 HP:0001250
12 dysphagia 32 occasional (7.5%) HP:0002015
13 facial palsy 32 HP:0010628
14 abdominal wall muscle weakness 32 HP:0009023
15 malformation of the heart and great vessels 59 Occasional (29-5%)
16 scapular winging 32 HP:0003691
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 restrictive deficit on pulmonary function testing 32 HP:0002111
21 calf muscle hypertrophy 32 HP:0008981
22 shoulder girdle muscle weakness 32 HP:0003547
23 tongue atrophy 32 HP:0012473
24 shoulder girdle muscle atrophy 32 HP:0003724
25 exudative retinal detachment 32 HP:0012231
26 scapulohumeral muscular dystrophy 32 HP:0008970
27 beevor's sign 32 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
Testosterone enanthate Approved Phase 1 315-37-7 9416
6
Testosterone undecanoate Approved, Investigational Phase 1 5949-44-0
7 Anabolic Agents Phase 1
8 Androgens Phase 1
9 Antineoplastic Agents, Hormonal Phase 1
10 Hormone Antagonists Phase 1
11 Hormones Phase 1
12 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1
13 Testosterone 17 beta-cypionate 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 1406-66-2 14986
17
Vitamin C Approved, Nutraceutical Not Applicable 50-81-7 5785 54670067
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, PK, and Activity of ATYR1940 in Patients With Muscular Dystrophy - Study Extension Completed NCT02531217 Phase 1, Phase 2
5 Safety, Tolerability, Pharmacokinetics, and Biological Activity of ATYR1940 in Adult Patients With Muscular Dystrophy Completed NCT02239224 Phase 1, Phase 2
6 Study Evaluating MYO-029 in Adult Muscular Dystrophy Completed NCT00104078 Phase 1, Phase 2 MYO-029
7 Effect of Creatine Monohydrate on Functional Muscle Strength in Children With FSHD Recruiting NCT02948244 Phase 2
8 Study of ACE-083 in Patients With Facioscapulohumeral Muscular Dystrophy (FSHD) Recruiting NCT02927080 Phase 2 ACE-083;ACE-083 or placebo
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 Not Applicable
11 Bone Health in Facioscapulohumeral Muscular Dystrophy Unknown status NCT02413190
12 Effects Antioxidants Supplementation on Muscular Function Patients Facioscapulohumeral Dystrophy (FSHD) Unknown status NCT01596803 Not Applicable
13 Physical Training Introduction in Lifestyle of Facioscapulohumeral Dystrophy Patients Completed NCT01116570 Not Applicable
14 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
15 Study of Morphology and Functional Magnetic Resonance Imaging (MRI) Muscle Patients With Muscular Dystrophy Type FSHD Benefiting a Physical Training Introduced. Completed NCT01990976
16 Rasch-analysis of Clinical Severity in FSHD Completed NCT02766985
17 1 Year MRI Followup in Facioscapulohumeral Muscular Dystrophy Completed NCT02159612
18 High Intensity Training in Patients With Facioscapulohumeral Muscular Dystrophy Completed NCT02159963 Not Applicable
19 Electrostimulation of Shoulder Girdle and Quadriceps Muscles in Facioscapulohumeral Muscular Dystrophy Patients Completed NCT00821548 Not Applicable
20 A Multicenter Collaborative Study on the Clinical Features, Expression Profiling, and Quality of Life of Infantile Onset FSHD Completed NCT01437345
21 Randomized Study of Albuterol in Patients With Facioscapulohumeral Muscular Dystrophy Completed NCT00004685 Not Applicable albuterol
22 Protein Supplementation and Exercise in Patients With FSH Muscular Dystrophy- a Randomized Placebo Controlled Study Completed NCT01618331 Not Applicable
23 Study of Muscle Wasting and Altered Metabolism in Patients With Myotonic Dystrophy Completed NCT00004769
24 Neurological and Psychiatric Comorbidities Patients With FSHD 1 and 2 Recruiting NCT02032979 Not Applicable
25 Magnetic Resonance Imaging and Spectroscopy Biomarkers for Facioscapulohumeral Muscular Dystrophy Recruiting NCT01671865
26 Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Registry Recruiting NCT00082108
27 Clinical Trial Readiness to Solve Barriers to Drug Development in FSHD Recruiting NCT03458832
28 Effects of NMES on Muscle Function of Patients With FSHD: a Double-blind Randomized Controled Clinical Trial Recruiting NCT02861911 Not Applicable
29 Molecular Analysis of Patients With Neuromuscular Disease Recruiting NCT00390104
30 Acceptance and Commitment Therapy for Muscle Disease Recruiting NCT02810028 Not Applicable
31 Muscle Inflammation and Fat Infiltration in Patients Affected by FSHD Active, not recruiting NCT02541292
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 29 FRG1

Anatomical Context for Facioscapulohumeral Muscular Dystrophy 1

MalaCards organs/tissues related to Facioscapulohumeral Muscular Dystrophy 1:

41
Skeletal Muscle, Testes, Heart, Tongue, Bone, Lung, Cortex

Publications for Facioscapulohumeral Muscular Dystrophy 1

Articles related to Facioscapulohumeral Muscular Dystrophy 1:

(show top 50) (show all 407)
# 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
Facioscapulohumeral Muscular Dystrophy. ( 28915324 )
2017
5
Estrogens enhance myoblast differentiation in facioscapulohumeral muscular dystrophy by antagonizing DUX4 activity. ( 28263188 )
2017
6
Teaching NeuroImages: Coats disease revealing facioscapulohumeral muscular dystrophy. ( 27462044 )
2016
7
Clinical, muscle pathological, and genetic features of Japanese facioscapulohumeral muscular dystrophy 2 (FSHD2) patients with SMCHD1 mutations. ( 27061275 )
2016
8
A Human Pluripotent Stem Cell Model of Facioscapulohumeral Muscular Dystrophy-Affected Skeletal Muscles. ( 27217344 )
2016
9
A cross sectional study of two independent cohorts identifies serum biomarkers for facioscapulohumeral muscular dystrophy (FSHD). ( 27185459 )
2016
10
Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry. ( 26733561 )
2016
11
Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry. ( 27159994 )
2016
12
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
13
Clinical practice considerations in facioscapulohumeral muscular dystrophy Sydney, Australia, 21 September 2015. ( 27185458 )
2016
14
It's not just physical: a qualitative study regarding the illness experiences of people with facioscapulohumeral muscular dystrophy. ( 27211201 )
2016
15
Birdshot chorioretinopathy in a male patient with facioscapulohumeral muscular dystrophy. ( 25861398 )
2015
16
Evidence-based guideline summary: Evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. ( 26215877 )
2015
17
Correlation between low FAT1 expression and early affected muscle in facioscapulohumeral muscular dystrophy. ( 26018399 )
2015
18
Functional impact of vibratory proprioceptive assistance in patients with facioscapulohumeral muscular dystrophy. ( 25678042 )
2015
19
Individual epigenetic status of the pathogenic D4Z4 macrosatellite correlates with disease in facioscapulohumeral muscular dystrophy. ( 25904990 )
2015
20
Hemizygosity for SMCHD1 in Facioscapulohumeral Muscular Dystrophy Type 2: Consequences for 18p Deletion Syndrome. ( 25820463 )
2015
21
Facioscapulohumeral muscular dystrophy and limb-girdle muscular dystrophy: "double trouble" overlapping syndrome? ( 25528007 )
2015
22
Muscle pathology grade for facioscapulohumeral muscular dystrophy biopsies. ( 25704033 )
2015
23
Gait propulsion in patients with facioscapulohumeral muscular dystrophy and ankle plantarflexor weakness. ( 25687333 )
2015
24
Immunohistochemical Characterization of Facioscapulohumeral Muscular Dystrophy Muscle Biopsies. ( 26345300 )
2015
25
I^-Catenin is central to DUX4-driven network rewiring in facioscapulohumeral muscular dystrophy. ( 25551153 )
2015
26
A feedback loop between nonsense-mediated decay and the retrogene DUX4 in facioscapulohumeral muscular dystrophy. ( 25564732 )
2015
27
Whole-body magnetic resonance imaging evaluation of facioscapulohumeral muscular dystrophy. ( 25641525 )
2015
28
Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study. ( 25603992 )
2015
29
Facioscapulohumeral muscular dystrophy as a genetic cause of pectus excavatum. ( 25725206 )
2015
30
Loss of epigenetic silencing of the DUX4 transcription factor gene in facioscapulohumeral muscular dystrophy. ( 26113644 )
2015
31
Beevor's sign in facioscapulohumeral muscular dystrophy. ( 24827829 )
2014
32
Myogenic enhancers regulate expression of the facioscapulohumeral muscular dystrophy-associated DUX4 gene. ( 24636994 )
2014
33
Retinal telangiectasis detected during a vision screening examination in a child with hearing loss led to the diagnosis of facioscapulohumeral muscular dystrophy. ( 24924285 )
2014
34
Facioscapulohumeral muscular dystrophy. ( 25037087 )
2014
35
Upper girdle imaging in facioscapulohumeral muscular dystrophy. ( 24932477 )
2014
36
Multiplex Screen of Serum Biomarkers in Facioscapulohumeral Muscular Dystrophy. ( 25705588 )
2014
37
Restrictive lung involvement in facioscapulohumeral muscular dystrophy. ( 24639337 )
2014
38
High prevalence of incomplete right bundle branch block in facioscapulohumeral muscular dystrophy without cardiac symptoms. ( 25264980 )
2014
39
Skeletal muscle imaging in facioscapulohumeral muscular dystrophy, pattern and asymmetry of individual muscle involvement. ( 25176503 )
2014
40
High prevalence of incomplete right bundle branch block in facioscapulohumeral muscular dystrophy without cardiac symptoms. ( 25473735 )
2014
41
Early-Onset Facioscapulohumeral Muscular Dystrophy Type 1 With Some Atypical Features. ( 24717985 )
2014
42
Identifying diagnostic DNA methylation profiles for facioscapulohumeral muscular dystrophy in blood and saliva using bisulfite sequencing. ( 25400706 )
2014
43
Facioscapulohumeral muscular dystrophy: more complex than it appears. ( 25323867 )
2014
44
Trunk muscle involvement is most critical for the loss of balance control in patients with facioscapulohumeral muscular dystrophy. ( 25156185 )
2014
45
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
46
Facioscapulohumeral muscular dystrophy. ( 24882751 )
2014
47
Reachable workspace in facioscapulohumeral muscular dystrophy (FSHD) by kinect. ( 24828906 )
2014
48
Severe paraspinal muscle involvement in facioscapulohumeral muscular dystrophy. ( 25142899 )
2014
49
Relationships between clinical data and quantitative EMG findings in facioscapulohumeral muscular dystrophy. ( 23487289 )
2013
50
[Facioscapulohumeral muscular dystrophy type 2]. ( 23969240 )
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

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 9.4 MIR132 MIR146B MIR155 MIR199B MIR21 MIR221

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

(show all 43)
# 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 9.97 MIR132 MIR155 MIR21 MIR29A
3 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.94 MIR21 MIR221 MIR222 MIRLET7B
4 negative regulation of gene expression GO:0010629 9.93 MIR132 MIR155 MIR21 MIR29A
5 negative regulation of cell migration GO:0030336 9.86 MIR21 MIR214 MIR29A MIR34A
6 negative regulation of inflammatory response GO:0050728 9.82 MIR155 MIR221 MIR222
7 negative regulation of angiogenesis GO:0016525 9.8 MIR21 MIR214 MIR222 MIR29A MIR34A
8 positive regulation of epithelial to mesenchymal transition GO:0010718 9.78 MIR21 MIR221 MIR222
9 negative regulation of cell migration involved in sprouting angiogenesis GO:0090051 9.77 MIR146B MIR155 MIR221
10 positive regulation of G1/S transition of mitotic cell cycle GO:1900087 9.76 MIR221 MIR222 MIR29A
11 positive regulation of vascular smooth muscle cell proliferation GO:1904707 9.73 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 epithelial cell migration GO:0010634 9.69 MIR221 MIR222
14 positive regulation of cardiac muscle cell proliferation GO:0060045 9.69 MIR199B MIR222
15 positive regulation of vascular endothelial cell proliferation GO:1905564 9.69 MIR132 MIR21 MIR29A
16 negative regulation of cardiac muscle cell apoptotic process GO:0010667 9.68 MIR199B MIR21
17 negative regulation of sprouting angiogenesis GO:1903671 9.68 MIR221 MIR34A
18 negative regulation of vascular smooth muscle cell proliferation GO:1904706 9.68 MIR214 MIR34A
19 positive regulation of erythrocyte differentiation GO:0045648 9.67 MIR221 MIR222
20 negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis GO:1903588 9.67 MIR155 MIR222
21 negative regulation of vascular associated smooth muscle cell migration GO:1904753 9.67 MIR21 MIR214 MIR34A
22 positive regulation of activated T cell proliferation GO:0042104 9.66 MIR155 MIR21
23 positive regulation of cardiac muscle hypertrophy GO:0010613 9.66 MIR155 MIR21
24 positive regulation of vascular associated smooth muscle cell migration GO:1904754 9.65 MIR21 MIR221
25 positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis GO:1903589 9.65 MIR132 MIRLET7B
26 positive regulation of endothelial cell differentiation GO:0045603 9.65 MIR199B MIR21 MIR99B
27 negative regulation of cytokine production involved in inflammatory response GO:1900016 9.64 MIR221 MIR222
28 positive regulation of cardiac muscle hypertrophy in response to stress GO:1903244 9.63 MIR155 MIR214
29 positive regulation of connective tissue replacement GO:1905205 9.63 MIR155 MIR214 MIR34A
30 positive regulation of axon regeneration GO:0048680 9.62 MIR221 MIR222
31 negative regulation by host of viral genome replication GO:0044828 9.62 MIR221 MIR222
32 negative regulation of regulatory T cell differentiation GO:0045590 9.61 MIR155 MIR21
33 negative regulation of hydrogen peroxide-mediated programmed cell death GO:1901299 9.59 MIR21 MIRLET7B
34 negative regulation of vascular wound healing GO:0061044 9.58 MIR155 MIR34A
35 negative regulation of TRAIL-activated apoptotic signaling pathway GO:1903122 9.57 MIR221 MIR222
36 positive regulation of Schwann cell migration GO:1900149 9.55 MIR221 MIR222
37 miRNA mediated inhibition of translation GO:0035278 9.55 MIR132 MIR21 MIR221 MIR222 MIR29A
38 negative regulation of hematopoietic stem cell proliferation GO:1902034 9.54 MIR221 MIR222
39 negative regulation of leukocyte adhesion to vascular endothelial cell GO:1904995 9.54 MIR155 MIR221 MIR222
40 positive regulation of Schwann cell proliferation involved in axon regeneration GO:1905046 9.52 MIR221 MIR222
41 negative regulation of cell adhesion molecule production GO:0060354 9.5 MIR155 MIR221 MIR222
42 positive regulation of angiogenesis GO:0045766 9.43 MIR132 MIR199B MIR21 MIR29A MIR99B MIRLET7B
43 gene silencing by miRNA GO:0035195 9.36 MIR132 MIR146B MIR155 MIR199B MIR21 MIR214

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

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