MCID: FCS012
MIFTS: 43

Facioscapulohumeral Muscular Dystrophy 1 malady

Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases categories

Aliases & Classifications for Facioscapulohumeral Muscular Dystrophy 1

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Sources:
45OMIM, 30LifeMap Discovery®, 9Disease Ontology, 10diseasecard, 19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 55SNOMED-CT, 38NCIt, 33MeSH, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Facioscapulohumeral Muscular Dystrophy 1, Aliases & Descriptions:

Name: Facioscapulohumeral Muscular Dystrophy 1 45 10
Facioscapulohumeral Muscular Dystrophy 30 9 19 41 21 11 47
Muscular Dystrophy, Facioscapulohumeral 41 20 21 60
Fshd 41 21 47
Facioscapulohumeral Muscular Dystrophy 1a 41 60
Muscular Dystrophy Facioscapulohumeral 43 22
Landouzy-Dejerine Muscular Dystrophy 9 41
Facioscapulohumeral Dystrophy 41 47
Facioscapulohumeral Myopathy 41 47
Landouzy-Dejerine Myopathy 41 47
Fsh Muscular Dystrophy 19 21
 
Fsh Dystrophy 41 47
Facioscapulohumeral Type Progressive Muscular Dystrophy 21
Muscular Dystrophy, Facioscapulohumeral, Type 1a 41
Facioscapuloperoneal Muscular Dystrophy 21
Muscular Dystrophy, Landouzy-Dejerine 9
Landouzy Dejerine Muscular Dystrophy 9
Facio-Scapulo-Humeral Dystrophy 21
Facioscapulohumeral Atrophy 21
Fshmd1a 41
Fshd1a 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Muscle diseases


Characteristics (Orphanet epidemiological data):

47
facioscapulohumeral muscular dystrophy:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Adolescent,Adult,Childhood,Infancy; Age of death: normal life expectancy


External Ids:

OMIM45 158900
Disease Ontology9 DOID:11727
NCIt38 C84704
MeSH33 D020391
SNOMED-CT55 56096001, 399091004
Orphanet47 269
ICD10 via Orphanet26 G71.0
UMLS via Orphanet61 C0238288

Summaries for Facioscapulohumeral Muscular Dystrophy 1

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OMIM:45 Facioscapulohumeral muscular dystrophy is the third most common hereditary disease of muscle after Duchenne (DMD;... (158900) more...

MalaCards based summary: Facioscapulohumeral Muscular Dystrophy 1, also known as facioscapulohumeral muscular dystrophy, is related to muscular dystrophy and retinitis, and has symptoms including mask-like facies, amyotrophy and hyperlordosis. An important gene associated with Facioscapulohumeral Muscular Dystrophy 1 is SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1). Affiliated tissues include skeletal muscle, b cells and heart.

NIH Rare Diseases:41 Facioscapulohumeral muscular dystrophy is a disorder characterized by muscle weakness and wasting (atrophy). this condition gets its name from the areas of the body that are affected most often: muscles in the face (facio-), around the shoulder blades (scapulo-), and in the upper arms (humeral). the signs and symptoms of facioscapulohumeral muscular dystrophy usually appear in adolescence. however, the onset and severity of the condition varies widely. facioscapulohumeral muscular dystrophy results from a deletion of genetic material from a region of dna known as d4z4. this region is located near one end of chromosome 4. it is inherited in an autosomal dominant pattern. last updated: 3/15/2013

Genetics Home Reference:21 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.

GeneReviews summary for fsh

Related Diseases for Facioscapulohumeral Muscular Dystrophy 1

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



Diseases related to facioscapulohumeral muscular dystrophy 1

Symptoms for Facioscapulohumeral Muscular Dystrophy 1

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Symptoms by clinical synopsis from OMIM:

158900

Clinical features from OMIM:

158900

Symptoms:

 47 (show all 11)
  • expressionless face/amimia
  • lordosis
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase
  • abnormal emg/electromyogram/electropmyography
  • autosomal dominant inheritance
  • puffy eyelids
  • absent/decreased lashes
  • sensorineural deafness/hearing loss
  • retinal vascular anomalies/retinal telangiectasia
  • congenital cardiac anomaly/malformation/cardiopathy

HPO human phenotypes related to Facioscapulohumeral Muscular Dystrophy 1:

(show all 28)
id Description Frequency HPO Source Accession
1 mask-like facies hallmark (90%) HP:0000298
2 amyotrophy hallmark (90%) HP:0003202
3 hyperlordosis hallmark (90%) HP:0003307
4 emg abnormality hallmark (90%) HP:0003457
5 sensorineural hearing impairment typical (50%) HP:0000407
6 abnormality of the eyelashes typical (50%) HP:0000499
7 palpebral edema typical (50%) HP:0100540
8 malformation of the heart and great vessels occasional (7.5%) HP:0002564
9 abnormality of the retinal vasculature occasional (7.5%) HP:0008046
10 autosomal dominant inheritance HP:0000006
11 sensorineural hearing impairment HP:0000407
12 external ophthalmoplegia HP:0000544
13 intellectual disability HP:0001249
14 seizures HP:0001250
15 dysphagia HP:0002015
16 restrictive respiratory insufficiency HP:0002111
17 elevated serum creatine phosphokinase HP:0003236
18 shoulder girdle muscle weakness HP:0003547
19 slow progression HP:0003677
20 scapular winging HP:0003691
21 shoulder girdle muscle atrophy HP:0003724
22 retinal telangiectasia HP:0007763
23 calf muscle hypertrophy HP:0008981
24 abdominal wall muscle weakness HP:0009023
25 facial palsy HP:0010628
26 childhood onset HP:0011463
27 exudative retinal detachment HP:0012231
28 tongue atrophy HP:0012473

Drugs & Therapeutics for Facioscapulohumeral Muscular Dystrophy 1

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Drug clinical trials:

Search ClinicalTrials for Facioscapulohumeral Muscular Dystrophy 1

Search NIH Clinical Center for Facioscapulohumeral Muscular Dystrophy 1

Genetic Tests for Facioscapulohumeral Muscular Dystrophy 1

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Genetic tests related to Facioscapulohumeral Muscular Dystrophy 1:

id Genetic test Affiliating Genes
1 Facioscapulohumeral Muscular Dystrophy20 22 DUX4

Anatomical Context for Facioscapulohumeral Muscular Dystrophy 1

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MalaCards organs/tissues related to Facioscapulohumeral Muscular Dystrophy 1:

31
Skeletal muscle, B cells, Heart, Adipocyte, Myeloid, T cells, Endothelial, Tongue

Animal Models for Facioscapulohumeral Muscular Dystrophy 1 or affiliated genes

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Publications for Facioscapulohumeral Muscular Dystrophy 1

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Variations for Facioscapulohumeral Muscular Dystrophy 1

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Clinvar genetic disease variations for Facioscapulohumeral Muscular Dystrophy 1:

6
id Gene Variation Type Significance SNP ID Assembly Location
1SMCHD1NM_015295.2(SMCHD1): c.1302_1306delTGATA (p.Tyr434Terfs)deletionPathogenicrs387907319GRCh37Chr 18, 2697999: 2698003
2SMCHD1NM_015295.2(SMCHD1): c.2068C> T (p.Pro690Ser)single nucleotide variantPathogenicrs397514623GRCh37Chr 18, 2707565: 2707565
3SMCHD1SMCHD1, 1-BP DEL, NT1608deletionPathogenic
4SMCHD1SMCHD1, IVS29DS, G-A, +1single nucleotide variantPathogenic
5SMCHD1SMCHD1, THR1522THRsingle nucleotide variantPathogenic
6SMCHD1NM_015295.2(SMCHD1): c.1580C> T (p.Thr527Met)single nucleotide variantPathogenicrs397518422GRCh37Chr 18, 2700849: 2700849

Expression for genes affiliated with Facioscapulohumeral Muscular Dystrophy 1

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

Pathways for genes affiliated with Facioscapulohumeral Muscular Dystrophy 1

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Compounds for genes affiliated with Facioscapulohumeral Muscular Dystrophy 1

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GO Terms for genes affiliated with Facioscapulohumeral Muscular Dystrophy 1

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Products for genes affiliated with Facioscapulohumeral Muscular Dystrophy 1

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Facioscapulohumeral Muscular Dystrophy 1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet