MCID: BRD001
MIFTS: 41

Brody Myopathy

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Brody Myopathy

MalaCards integrated aliases for Brody Myopathy:

Name: Brody Myopathy 53 12 72 49 24 55 71 36 28 13 14 69
Brody Disease 49 24 71
Sarcoplasmic Reticulum -Ca2+atpase Deficiency 49
Muscle Cramps 28
Muscle Cramp 41
Brm 71

Characteristics:

Orphanet epidemiological data:

55
brody myopathy
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Adult;

OMIM:

53
Inheritance:
autosomal recessive
? autosomal dominant in one family.


HPO:

31
brody myopathy:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 55  
Rare neurological diseases


External Ids:

OMIM 53 601003
Disease Ontology 12 DOID:0050692
Orphanet 55 ORPHA53347
MESH via Orphanet 42 C536607
UMLS via Orphanet 70 C1832918
ICD10 via Orphanet 33 G71.8
MedGen 39 C1832918
MeSH 41 D009120
KEGG 36 H01129
SNOMED-CT via HPO 65 258211005 55300003
UMLS 69 C1832918

Summaries for Brody Myopathy

NIH Rare Diseases : 49 Brody myopathy is a hereditary condition that affects the skeletal muscles (muscles used for movement). Symptoms typically begin in childhood and are characterized by muscle cramping and stiffening (myopathy) after exercise or other strenuous activity. These symptoms can worsen in cold temperatures and are usually painless, however, some individuals may have mild discomfort. Some cases of Brody myopathy are caused by mutations in the ATP2A1 gene. The cause of Brody myopathy for individuals not found to have an ATP2A1 gene mutation remains unknown. Brody myopathy is usually inherited in an autosomal recessive manner with a few reported cases of autosomal dominant inheritance. While there is no one treatment for Brody myopathy, certain muscle relaxants, such as dantrolene and blood pressure medications called calcium channel blockers, such as verapamil may be useful.  Some researchers suggest that individuals found to have an ATP2A1 gene mutation have a slightly different disorder in which symptoms appear at an earlier age. They use the disease term "Brody disease" for individuals with an identified mutation versus "Brody syndrome" for those that do not. More research may help clarify whether these are two different disorders or a variation of the same disorder. Last updated: 7/29/2016

MalaCards based summary : Brody Myopathy, also known as brody disease, is related to pseudomyotonia and malignant hyperthermia, and has symptoms including muscle cramps An important gene associated with Brody Myopathy is ATP2A1 (ATPase Sarcoplasmic/Endoplasmic Reticulum Ca2+ Transporting 1), and among its related pathways/superpathways are Calcium signaling pathway and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Affiliated tissues include skeletal muscles and skeletal muscle, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

OMIM : 53 Brody myopathy, a disorder of fast-twitch skeletal muscle function, is characterized by exercise-induced impairment of skeletal muscle relaxation, stiffening, and cramps, predominantly in the arms, legs, and eyelids (summary by Odermatt et al., 2000). (601003)

UniProtKB/Swiss-Prot : 71 Brody myopathy: A disorder of muscle function that is characterized by painless muscle cramping and exercise-induced impairment of muscle relaxation.

Genetics Home Reference : 24 Brody myopathy is a condition that affects the skeletal muscles, which are the muscles used for movement. Affected individuals experience muscle cramping and stiffening after exercise or other strenuous activity, especially in cold temperatures. These symptoms typically begin in childhood. They are usually painless, but in some cases can cause mild discomfort. The muscles usually relax after a few minutes of rest. Most commonly affected are the muscles of the arms, legs, and face (particularly the eyelids).

Disease Ontology : 12 A neuromuscular disease is characterized by difficulty relaxing muscles and muscle stiffness following exercise or other strenuous activity and is located in skeletal muscles.

Related Diseases for Brody Myopathy

Graphical network of the top 20 diseases related to Brody Myopathy:



Diseases related to Brody Myopathy

Symptoms & Phenotypes for Brody Myopathy

Symptoms via clinical synopsis from OMIM:

53
Muscle:
painless muscle cramping. exercise-induced impaired muscle relaxation.

Lab:
sarcoplasmic reticulum deficient in both ca(2+) uptake and ca(2+)-atpase.

Misc:
sometimes worsened by cold. symptoms relieved by dantrolene.


Clinical features from OMIM:

601003

Human phenotypes related to Brody Myopathy:

31
# Description HPO Frequency HPO Source Accession
1 muscle cramps 31 HP:0003394

GenomeRNAi Phenotypes related to Brody Myopathy according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.36 CYP24A1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-136 9.36 CYP24A1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.36 ATP2A2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.36 ATP2A2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-174 9.36 ATP2A2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.36 ATP2A2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.36 ATP2A2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-35 9.36 ATP2A2 CYP24A1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-36 9.36 ATP2A2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.36 CYP24A1

MGI Mouse Phenotypes related to Brody Myopathy:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.63 ATP2A1 ATP2A2 CAMP CYP24A1 DMD RYR1
2 muscle MP:0005369 9.35 RYR1 ATP2A1 ATP2A2 ATP2A3 DMD
3 respiratory system MP:0005388 8.92 ATP2A1 ATP2A2 DMD RYR1

Drugs & Therapeutics for Brody Myopathy

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Muscle Relaxation in Myopathies With Positive Muscle Phenomena Enrolling by invitation NCT03211923

Search NIH Clinical Center for Brody Myopathy

Cochrane evidence based reviews: muscle cramp

Genetic Tests for Brody Myopathy

Genetic tests related to Brody Myopathy:

# Genetic test Affiliating Genes
1 Brody Myopathy 28 ATP2A1
2 Muscle Cramps 28

Anatomical Context for Brody Myopathy

The Foundational Model of Anatomy Ontology organs/tissues related to Brody Myopathy:

18
Skeletal Muscles

MalaCards organs/tissues related to Brody Myopathy:

38
Skeletal Muscle

Publications for Brody Myopathy

Articles related to Brody Myopathy:

# Title Authors Year
1
Exome analysis identifies Brody myopathy in a family diagnosed with malignant hyperthermia susceptibility. ( 25614869 )
2014

Variations for Brody Myopathy

UniProtKB/Swiss-Prot genetic disease variations for Brody Myopathy:

71
# Symbol AA change Variation ID SNP ID
1 ATP2A1 p.Pro789Leu VAR_015588 rs121918115

ClinVar genetic disease variations for Brody Myopathy:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 ATP2A1 NM_004320.4(ATP2A1): c.592C> T (p.Arg198Ter) single nucleotide variant Pathogenic rs121918113 GRCh37 Chromosome 16, 28898557: 28898557
2 ATP2A1 NM_004320.4(ATP2A1): c.2025C> A (p.Cys675Ter) single nucleotide variant Pathogenic rs121918114 GRCh37 Chromosome 16, 28912162: 28912162
3 ATP2A1 ATP2A1, IVS3DS, G-C, -2 single nucleotide variant Pathogenic
4 ATP2A1 ATP2A1, 1-BP DEL, 437C deletion Pathogenic
5 ATP2A1 NM_004320.4(ATP2A1): c.2366C> T (p.Pro789Leu) single nucleotide variant Pathogenic rs121918115 GRCh37 Chromosome 16, 28913549: 28913549
6 CYP24A1 NM_000782.4(CYP24A1): c.1186C> T (p.Arg396Trp) single nucleotide variant Pathogenic rs114368325 GRCh37 Chromosome 20, 52774675: 52774675
7 DMD NM_004006.2(DMD): c.1637G> A (p.Trp546Ter) single nucleotide variant Pathogenic rs1057518962 GRCh38 Chromosome X, 32573812: 32573812
8 ATP2A1 NM_173201.3(ATP2A1): c.1742_1743delCT (p.Ser581Cysfs) deletion Pathogenic GRCh37 Chromosome 16, 28909750: 28909751
9 ATP2A1 NC_000016.10: g.(?_28878652)_(28904225_?)del deletion Pathogenic GRCh37 Chromosome 16, 28889973: 28915546
10 ATP2A1 NM_004320.4(ATP2A1): c.2464dup (p.Arg822Profs) duplication Pathogenic GRCh37 Chromosome 16, 28913647: 28913647
11 ATP2A1 NM_173201.3(ATP2A1): c.2464delC (p.Arg822Glyfs) deletion Pathogenic GRCh37 Chromosome 16, 28913647: 28913647
12 ATP2A1 NM_004320.4(ATP2A1): c.909_920delTGTGGCTGCCATinsACGGCATA (p.Val304Argfs) indel Pathogenic GRCh37 Chromosome 16, 28899024: 28899035

Expression for Brody Myopathy

Search GEO for disease gene expression data for Brody Myopathy.

Pathways for Brody Myopathy

Pathways related to Brody Myopathy according to KEGG:

36
# Name Kegg Source Accession
1 Calcium signaling pathway hsa04020

Pathways related to Brody Myopathy according to GeneCards Suite gene sharing:

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.99 ATP2A1 ATP2A2 ATP2A3 RYR1
2
Show member pathways
12.93 ATP2A1 ATP2A2 ATP2A3 RYR1
3
Show member pathways
12.48 ATP2A1 ATP2A2 ATP2A3
4
Show member pathways
12.46 ATP2A1 ATP2A2 ATP2A3 RYR1
5
Show member pathways
12.35 ATP2A1 ATP2A2 ATP2A3 RYR1
6
Show member pathways
12.19 ATP2A2 ATP2A3 RYR1
7
Show member pathways
12.12 ATP2A1 ATP2A2 ATP2A3 RYR1
8
Show member pathways
12.08 ATP2A1 ATP2A2 ATP2A3 DMD RYR1
9
Show member pathways
12.07 ATP2A1 ATP2A2 ATP2A3
10 12.03 ATP2A1 ATP2A2 ATP2A3
11
Show member pathways
11.93 ATP2A1 ATP2A2 ATP2A3
12
Show member pathways
11.73 ATP2A1 ATP2A2 ATP2A3 RYR1
13
Show member pathways
11.71 ATP2A1 ATP2A2 ATP2A3
14 11.53 ATP2A1 ATP2A2 ATP2A3
15 11.28 ATP2A1 ATP2A2
16 11.2 ATP2A1 ATP2A2 ATP2A3
17 9.88 ATP2A1 ATP2A2 RYR1

GO Terms for Brody Myopathy

Cellular components related to Brody Myopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 platelet dense tubular network membrane GO:0031095 9.33 ATP2A1 ATP2A2 ATP2A3
2 sarcoplasmic reticulum GO:0016529 9.26 ATP2A1 ATP2A2 ATP2A3 RYR1
3 sarcoplasmic reticulum membrane GO:0033017 8.92 ATP2A1 ATP2A2 ATP2A3 RYR1

Biological processes related to Brody Myopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.71 ATP2A1 ATP2A2 ATP2A3 RYR1
2 ion transmembrane transport GO:0034220 9.67 ATP2A1 ATP2A2 ATP2A3 RYR1
3 cellular calcium ion homeostasis GO:0006874 9.46 ATP2A2 RYR1
4 calcium ion transport GO:0006816 9.46 ATP2A1 ATP2A2 ATP2A3 RYR1
5 response to endoplasmic reticulum stress GO:0034976 9.43 ATP2A1 ATP2A2
6 ATP hydrolysis coupled cation transmembrane transport GO:0099132 9.43 ATP2A1 ATP2A2 ATP2A3
7 positive regulation of endoplasmic reticulum calcium ion concentration GO:0032470 9.32 ATP2A1 ATP2A2
8 calcium ion transmembrane transport GO:0070588 9.26 ATP2A1 ATP2A2 ATP2A3 RYR1
9 regulation of cardiac conduction GO:1903779 8.92 ATP2A1 ATP2A2 ATP2A3 RYR1

Molecular functions related to Brody Myopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.43 ATP2A1 ATP2A2 ATP2A3 CYP24A1 DMD RYR1
2 calcium-transporting ATPase activity GO:0005388 8.8 ATP2A1 ATP2A2 ATP2A3

Sources for Brody Myopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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