MCID: FCS011
MIFTS: 30

Facioscapulohumeral Muscular Dystrophy 2

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

Aliases & Classifications for Facioscapulohumeral Muscular Dystrophy 2

MalaCards integrated aliases for Facioscapulohumeral Muscular Dystrophy 2:

Name: Facioscapulohumeral Muscular Dystrophy 2 57 75 29 6
Fascioscapulohumeral Muscular Dystrophy 2, Digenic 57 13
Fshd1b 57 75
Fshd2 57 75
Muscular Dystrophy, Facioscapulohumeral, Type 1b; Fshd1b 57
Facioscapulohumeral Muscular Dystrophy 2, Digenic 57
Muscular Dystrophy, Facioscapulohumeral, Type 1b 57
Dystrophy, Muscular, Facioscapulohumeral, Type 2 40
Muscular Dystrophy, Facioscapulohumeral, Type 2 57
Digenic Facioscapulohumeral Muscular Dystrophy 75
Facioscapulohumeral Muscular Dystrophy Type 1b 75
Facioscapulohumeral Muscular Dystrophy 1b 73
Fshd2, Digenic 57
Digenic Fshd2 75

Characteristics:

HPO:

32
facioscapulohumeral muscular dystrophy 2:
Onset and clinical course adult onset
Inheritance digenic inheritance


Classifications:



Summaries for Facioscapulohumeral Muscular Dystrophy 2

OMIM : 57 Facioscapulohumeral muscular dystrophy is a form of muscular dystrophy characterized by muscle weakness that first affects the facial muscles and upper extremities, later progressing to involve the lower extremities. The pattern of weakness is usually asymmetric (summary by Lemmers et al., 2012). FSHD1 (158900), which is clinically indistinguishable from FSHD2, is associated with contraction of the D4Z4 macrosatellite repeat (see 606009) in the subtelomeric region of chromosome 4q35. The disease mechanisms of FSHD1 and FSHD2 converge at the level of D4Z4 chromatin relaxation and variegated expression of DUX4 in skeletal muscle (summary by Lemmers et al., 2012). (158901)

MalaCards based summary : Facioscapulohumeral Muscular Dystrophy 2, also known as fascioscapulohumeral muscular dystrophy 2, digenic, is related to facioscapulohumeral muscular dystrophy 1 and muscular dystrophy. An important gene associated with Facioscapulohumeral Muscular Dystrophy 2 is SMCHD1 (Structural Maintenance Of Chromosomes Flexible Hinge Domain Containing 1). The drug Creatine has been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, and related phenotypes are hearing impairment and scapular winging

UniProtKB/Swiss-Prot : 75 Facioscapulohumeral muscular dystrophy 2: 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.

Related Diseases for Facioscapulohumeral Muscular Dystrophy 2

Diseases in the Facioscapulohumeral Muscular Dystrophy 1 family:

Facioscapulohumeral Muscular Dystrophy 2

Diseases related to Facioscapulohumeral Muscular Dystrophy 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 facioscapulohumeral muscular dystrophy 1 29.5 FRG2 SMCHD1
2 muscular dystrophy 10.3

Symptoms & Phenotypes for Facioscapulohumeral Muscular Dystrophy 2

Clinical features from OMIM:

158901

Human phenotypes related to Facioscapulohumeral Muscular Dystrophy 2:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 hearing impairment 32 very rare (1%) HP:0000365
2 scapular winging 32 very rare (1%) HP:0003691
3 pelvic girdle muscle weakness 32 very rare (1%) HP:0003749
4 scapulohumeral muscular dystrophy 32 HP:0008970
5 foot dorsiflexor weakness 32 very rare (1%) HP:0009027
6 facial palsy 32 very rare (1%) HP:0010628
7 beevor's sign 32 very rare (1%) HP:0030664

Drugs & Therapeutics for Facioscapulohumeral Muscular Dystrophy 2

Drugs for Facioscapulohumeral Muscular Dystrophy 2 (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 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
4 Study of Morphology and Functional Magnetic Resonance Imaging (MRI) Muscle Patients With Muscular Dystrophy Type FSHD Benefiting a Physical Training Introduced. Completed NCT01990976
5 Rasch-analysis of Clinical Severity in FSHD Completed NCT02766985
6 Neurological and Psychiatric Comorbidities Patients With FSHD 1 and 2 Recruiting NCT02032979 Not Applicable

Search NIH Clinical Center for Facioscapulohumeral Muscular Dystrophy 2

Genetic Tests for Facioscapulohumeral Muscular Dystrophy 2

Genetic tests related to Facioscapulohumeral Muscular Dystrophy 2:

# Genetic test Affiliating Genes
1 Facioscapulohumeral Muscular Dystrophy 2 29 SMCHD1

Anatomical Context for Facioscapulohumeral Muscular Dystrophy 2

MalaCards organs/tissues related to Facioscapulohumeral Muscular Dystrophy 2:

41
Skeletal Muscle

Publications for Facioscapulohumeral Muscular Dystrophy 2

Articles related to Facioscapulohumeral Muscular Dystrophy 2:

# Title Authors Year
1
Clinical, muscle pathological, and genetic features of Japanese facioscapulohumeral muscular dystrophy 2 (FSHD2) patients with SMCHD1 mutations. ( 27061275 )
2016
2
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
3
Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2. ( 24128691 )
2013
4
Clinical features of facioscapulohumeral muscular dystrophy 2. ( 20975055 )
2010

Variations for Facioscapulohumeral Muscular Dystrophy 2

UniProtKB/Swiss-Prot genetic disease variations for Facioscapulohumeral Muscular Dystrophy 2:

75 (show all 17)
# Symbol AA change Variation ID SNP ID
1 DNMT3B p.Cys527Arg VAR_077527
2 DNMT3B p.Pro691Leu VAR_077529 rs889145646
3 SMCHD1 p.Tyr353Cys VAR_069067
4 SMCHD1 p.Arg479Pro VAR_069068
5 SMCHD1 p.Cys492Arg VAR_069069
6 SMCHD1 p.Pro690Ser VAR_069070 rs397514623
7 SMCHD1 p.Ser868Asn VAR_069071
8 SMCHD1 p.Phe1554Ser VAR_069072
9 SMCHD1 p.Gly137Glu VAR_078877
10 SMCHD1 p.Leu194Phe VAR_078882
11 SMCHD1 p.His263Asp VAR_078885
12 SMCHD1 p.Gly425Arg VAR_078892
13 SMCHD1 p.Thr527Met VAR_078898 rs397518422
14 SMCHD1 p.Gly716Ser VAR_078900
15 SMCHD1 p.Leu748Pro VAR_078902
16 SMCHD1 p.Asp849Asn VAR_078904
17 SMCHD1 p.Met1468Ile VAR_078906

ClinVar genetic disease variations for Facioscapulohumeral Muscular Dystrophy 2:

6
(show top 50) (show all 109)
# Gene Variation Type Significance SNP ID Assembly Location
1 SMCHD1 NM_015295.2(SMCHD1): c.1302_1306delTGATA (p.Tyr434Terfs) deletion Pathogenic rs387907319 GRCh37 Chromosome 18, 2697999: 2698003
2 SMCHD1 NM_015295.2(SMCHD1): c.1302_1306delTGATA (p.Tyr434Terfs) deletion Pathogenic rs387907319 GRCh38 Chromosome 18, 2698001: 2698005
3 SMCHD1 NM_015295.2(SMCHD1): c.2068C> T (p.Pro690Ser) single nucleotide variant Pathogenic rs397514623 GRCh37 Chromosome 18, 2707565: 2707565
4 SMCHD1 NM_015295.2(SMCHD1): c.2068C> T (p.Pro690Ser) single nucleotide variant Pathogenic rs397514623 GRCh38 Chromosome 18, 2707567: 2707567
5 SMCHD1 NM_015295.2(SMCHD1): c.1608delA (p.Asp537Ilefs) deletion Pathogenic rs1057519614 GRCh37 Chromosome 18, 2700877: 2700877
6 SMCHD1 NM_015295.2(SMCHD1): c.1608delA (p.Asp537Ilefs) deletion Pathogenic rs1057519614 GRCh38 Chromosome 18, 2700879: 2700879
7 SMCHD1 SMCHD1, IVS29DS, G-A, +1 single nucleotide variant Pathogenic
8 SMCHD1 SMCHD1, THR1522THR single nucleotide variant Pathogenic
9 SMCHD1 NM_015295.2(SMCHD1): c.1580C> T (p.Thr527Met) single nucleotide variant Pathogenic rs397518422 GRCh37 Chromosome 18, 2700849: 2700849
10 SMCHD1 NM_015295.2(SMCHD1): c.1580C> T (p.Thr527Met) single nucleotide variant Pathogenic rs397518422 GRCh38 Chromosome 18, 2700851: 2700851
11 SMCHD1 NM_015295.2(SMCHD1): c.3444T> A (p.Pro1148=) single nucleotide variant Conflicting interpretations of pathogenicity rs76290319 GRCh37 Chromosome 18, 2739448: 2739448
12 SMCHD1 NM_015295.2(SMCHD1): c.3444T> A (p.Pro1148=) single nucleotide variant Conflicting interpretations of pathogenicity rs76290319 GRCh38 Chromosome 18, 2739450: 2739450
13 SMCHD1 NM_015295.2(SMCHD1): c.399T> C (p.Tyr133=) single nucleotide variant Benign rs7239096 GRCh38 Chromosome 18, 2667006: 2667006
14 SMCHD1 NM_015295.2(SMCHD1): c.399T> C (p.Tyr133=) single nucleotide variant Benign rs7239096 GRCh37 Chromosome 18, 2667005: 2667005
15 SMCHD1 NM_015295.2(SMCHD1): c.424+10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs201631086 GRCh38 Chromosome 18, 2667041: 2667041
16 SMCHD1 NM_015295.2(SMCHD1): c.424+10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs201631086 GRCh37 Chromosome 18, 2667040: 2667040
17 SMCHD1 NM_015295.2(SMCHD1): c.1419A> G (p.Glu473=) single nucleotide variant Benign rs117771893 GRCh38 Chromosome 18, 2700615: 2700615
18 SMCHD1 NM_015295.2(SMCHD1): c.1419A> G (p.Glu473=) single nucleotide variant Benign rs117771893 GRCh37 Chromosome 18, 2700613: 2700613
19 SMCHD1 NM_015295.2(SMCHD1): c.1608A> G (p.Lys536=) single nucleotide variant Conflicting interpretations of pathogenicity rs72862973 GRCh37 Chromosome 18, 2700877: 2700877
20 SMCHD1 NM_015295.2(SMCHD1): c.1608A> G (p.Lys536=) single nucleotide variant Conflicting interpretations of pathogenicity rs72862973 GRCh38 Chromosome 18, 2700879: 2700879
21 SMCHD1 NM_015295.2(SMCHD1): c.1956+7C> T single nucleotide variant Benign rs145755468 GRCh37 Chromosome 18, 2705812: 2705812
22 SMCHD1 NM_015295.2(SMCHD1): c.1956+7C> T single nucleotide variant Benign rs145755468 GRCh38 Chromosome 18, 2705814: 2705814
23 SMCHD1 NM_015295.2(SMCHD1): c.2147-7C> T single nucleotide variant Benign rs113524119 GRCh37 Chromosome 18, 2707798: 2707798
24 SMCHD1 NM_015295.2(SMCHD1): c.2147-7C> T single nucleotide variant Benign rs113524119 GRCh38 Chromosome 18, 2707800: 2707800
25 SMCHD1 NM_015295.2(SMCHD1): c.2878A> G (p.Ile960Val) single nucleotide variant Benign rs9961682 GRCh37 Chromosome 18, 2728559: 2728559
26 SMCHD1 NM_015295.2(SMCHD1): c.2878A> G (p.Ile960Val) single nucleotide variant Benign rs9961682 GRCh38 Chromosome 18, 2728561: 2728561
27 SMCHD1 NM_015295.2(SMCHD1): c.3612A> T (p.Ser1204=) single nucleotide variant Benign rs115632137 GRCh38 Chromosome 18, 2740800: 2740800
28 SMCHD1 NM_015295.2(SMCHD1): c.3612A> T (p.Ser1204=) single nucleotide variant Benign rs115632137 GRCh37 Chromosome 18, 2740798: 2740798
29 SMCHD1 NM_015295.2(SMCHD1): c.4104C> T (p.Pro1368=) single nucleotide variant Benign rs117794949 GRCh38 Chromosome 18, 2750446: 2750446
30 SMCHD1 NM_015295.2(SMCHD1): c.4104C> T (p.Pro1368=) single nucleotide variant Benign rs117794949 GRCh37 Chromosome 18, 2750444: 2750444
31 SMCHD1 NM_015295.2(SMCHD1): c.3634-1G> C single nucleotide variant Uncertain significance rs886042282 GRCh37 Chromosome 18, 2743758: 2743758
32 SMCHD1 NM_015295.2(SMCHD1): c.3634-1G> C single nucleotide variant Uncertain significance rs886042282 GRCh38 Chromosome 18, 2743760: 2743760
33 SMCHD1 NM_015295.2(SMCHD1): c.3801+1G> A single nucleotide variant Pathogenic rs886042417 GRCh37 Chromosome 18, 2743927: 2743927
34 SMCHD1 NM_015295.2(SMCHD1): c.3801+1G> A single nucleotide variant Pathogenic rs886042417 GRCh38 Chromosome 18, 2743929: 2743929
35 SMCHD1 NM_015295.2(SMCHD1): c.3841A> G (p.Ile1281Val) single nucleotide variant Uncertain significance rs201059575 GRCh37 Chromosome 18, 2747559: 2747559
36 SMCHD1 NM_015295.2(SMCHD1): c.3841A> G (p.Ile1281Val) single nucleotide variant Uncertain significance rs201059575 GRCh38 Chromosome 18, 2747561: 2747561
37 SMCHD1 NM_015295.2(SMCHD1): c.4808C> T (p.Thr1603Ile) single nucleotide variant Benign rs147034750 GRCh37 Chromosome 18, 2769780: 2769780
38 SMCHD1 NM_015295.2(SMCHD1): c.4808C> T (p.Thr1603Ile) single nucleotide variant Benign rs147034750 GRCh38 Chromosome 18, 2769782: 2769782
39 SMCHD1 NM_015295.2(SMCHD1): c.873+7T> C single nucleotide variant Benign rs114242799 GRCh37 Chromosome 18, 2688752: 2688752
40 SMCHD1 NM_015295.2(SMCHD1): c.873+7T> C single nucleotide variant Benign rs114242799 GRCh38 Chromosome 18, 2688754: 2688754
41 SMCHD1 NM_015295.2(SMCHD1): c.1843-1G> A single nucleotide variant Pathogenic rs886043146 GRCh37 Chromosome 18, 2705691: 2705691
42 SMCHD1 NM_015295.2(SMCHD1): c.1843-1G> A single nucleotide variant Pathogenic rs886043146 GRCh38 Chromosome 18, 2705693: 2705693
43 SMCHD1 NM_015295.2(SMCHD1): c.3238_3239delGA (p.Glu1080Asnfs) deletion Pathogenic rs886043182 GRCh37 Chromosome 18, 2732452: 2732453
44 SMCHD1 NM_015295.2(SMCHD1): c.3238_3239delGA (p.Glu1080Asnfs) deletion Pathogenic rs886043182 GRCh38 Chromosome 18, 2732454: 2732455
45 SMCHD1 NM_015295.2(SMCHD1): c.4799dupT (p.Leu1600Phefs) duplication Pathogenic rs886043468 GRCh37 Chromosome 18, 2769771: 2769771
46 SMCHD1 NM_015295.2(SMCHD1): c.4799dupT (p.Leu1600Phefs) duplication Pathogenic rs886043468 GRCh38 Chromosome 18, 2769773: 2769773
47 SMCHD1 NM_015295.2(SMCHD1): c.4598T> C (p.Leu1533Ser) single nucleotide variant Uncertain significance rs368255259 GRCh37 Chromosome 18, 2763666: 2763666
48 SMCHD1 NM_015295.2(SMCHD1): c.4598T> C (p.Leu1533Ser) single nucleotide variant Uncertain significance rs368255259 GRCh38 Chromosome 18, 2763668: 2763668
49 SMCHD1 NM_015295.2(SMCHD1): c.5020delA (p.Ile1674Tyrfs) deletion Pathogenic rs886044129 GRCh37 Chromosome 18, 2771584: 2771584
50 SMCHD1 NM_015295.2(SMCHD1): c.5020delA (p.Ile1674Tyrfs) deletion Pathogenic rs886044129 GRCh38 Chromosome 18, 2771586: 2771586

Expression for Facioscapulohumeral Muscular Dystrophy 2

Search GEO for disease gene expression data for Facioscapulohumeral Muscular Dystrophy 2.

Pathways for Facioscapulohumeral Muscular Dystrophy 2

GO Terms for Facioscapulohumeral Muscular Dystrophy 2

Sources for Facioscapulohumeral Muscular Dystrophy 2

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