BRM
MCID: BRD001
MIFTS: 41

Brody Myopathy (BRM)

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

Aliases & Classifications for Brody Myopathy

MalaCards integrated aliases for Brody Myopathy:

Name: Brody Myopathy 58 12 77 54 26 60 76 38 30 13 6 45 15 74
Brody Disease 54 26 76
Sarcoplasmic Reticulum -Ca2+atpase Deficiency 54
Myopathy, Brody 41
Muscle Cramp 45
Brm 76

Characteristics:

Orphanet epidemiological data:

60
brody myopathy
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Adult;

OMIM:

58
Inheritance:
autosomal recessive
? autosomal dominant in one family.


HPO:

33
brody myopathy:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050692
OMIM 58 601003
KEGG 38 H01129
MESH via Orphanet 46 C536607
ICD10 via Orphanet 35 G71.8
UMLS via Orphanet 75 C1832918
Orphanet 60 ORPHA53347
MedGen 43 C1832918
SNOMED-CT via HPO 70 258211005 55300003
UMLS 74 C1832918

Summaries for Brody Myopathy

NIH Rare Diseases : 54 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.

MalaCards based summary : Brody Myopathy, also known as brody disease, is related to muscular disease and pseudomyotonia. 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 muscle, and related phenotypes are muscle spasm and muscle

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.

Genetics Home Reference : 26 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).

OMIM : 58 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 : 76 Brody myopathy: A disorder of muscle function that is characterized by painless muscle cramping and exercise-induced impairment of muscle relaxation.

Wikipedia : 77 Brody myopathy, also known as Brody disease (BD), is a rare disorder that affects skeletal muscle... more...

Related Diseases for Brody Myopathy

Diseases related to Brody Myopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 117)
# Related Disease Score Top Affiliating Genes
1 muscular disease 30.6 ATP2A1 CLCN1 DMD RYR1
2 pseudomyotonia 30.1 ATP2A1 ATP2A2
3 angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 12.7
4 acanthosis nigricans with muscle cramps and acral enlargement 12.5
5 muscle cramps, familial 12.3
6 charcot-marie-tooth disease 11.3
7 episodic ataxia 11.2
8 glycogen storage disease vii 11.2
9 spinal and bulbar muscular atrophy, x-linked 1 11.2
10 neuropathy, hereditary motor and sensory, okinawa type 11.1
11 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 11.0
12 glycogen storage disease v 11.0
13 spinal muscular atrophy, jokela type 11.0
14 myopathy, vacuolar, with casq1 aggregates 11.0
15 neuropathy, hereditary, with liability to pressure palsies 10.9
16 optic atrophy 1 10.9
17 buerger disease 10.9
18 3-methylglutaconic aciduria, type i 10.9
19 muscular dystrophy, limb-girdle, autosomal recessive 8 10.9
20 glycogen storage disease x 10.9
21 gitelman syndrome 10.9
22 rippling muscle disease 1 10.9
23 hereditary motor and sensory neuropathy v 10.9
24 muscular dystrophy, limb-girdle, autosomal recessive 6 10.9
25 hypoparathyroidism 10.9
26 arachnoiditis 10.9
27 cholera 10.9
28 vipoma 10.9
29 autosomal dominant charcot-marie-tooth disease type 2 with giant axons 10.9
30 bartter syndrome type 4 10.9
31 cramp-fasciculation syndrome 10.9
32 thyrotoxic periodic paralysis 10.9
33 amyotrophic lateral sclerosis 1 10.2
34 liver disease 10.2
35 lateral sclerosis 10.2
36 intermittent claudication 10.2
37 silver-russell syndrome due to maternal uniparental disomy of chromosome 7 10.2
38 myotonic disease 10.1 ATP2A1 CLCN1
39 hepatocellular carcinoma 10.1
40 retinoblastoma 10.1
41 lung cancer 10.1
42 pancreatic cancer 10.1
43 myopathy 10.1
44 malignant hyperthermia 10.1
45 malignant hyperthermia susceptibility 10.1
46 myotonic dystrophy 1 10.1 ATP2A1 CLCN1
47 acanthosis nigricans 10.1
48 diabetes mellitus, noninsulin-dependent 10.1
49 liver cirrhosis 10.1
50 tooth disease 10.1

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



Diseases related to Brody Myopathy

Symptoms & Phenotypes for Brody Myopathy

Human phenotypes related to Brody Myopathy:

33
# Description HPO Frequency HPO Source Accession
1 muscle spasm 33 HP:0003394

Symptoms via clinical synopsis from OMIM:

58
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

MGI Mouse Phenotypes related to Brody Myopathy:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.1 ATP2A1 ATP2A2 ATP2A3 CLCN1 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 30 ATP2A1

Anatomical Context for Brody Myopathy

MalaCards organs/tissues related to Brody Myopathy:

42
Skeletal Muscle

Publications for Brody Myopathy

Articles related to Brody Myopathy:

# Title Authors Year
1
Evidence of er stress and upr activation in patients with brody disease and brody syndrome. ( 28801956 )
2017
2
Atypical nuclear abnormalities in a patient with Brody disease. ( 26248958 )
2015
3
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:

76
# Symbol AA change Variation ID SNP ID
1 ATP2A1 p.Pro789Leu VAR_015588 rs121918115

ClinVar genetic disease variations for Brody Myopathy:

6 (show top 50) (show all 225)
# Gene Variation Type Significance SNP ID Assembly Location
1 ATP2A1 NM_004320.4(ATP2A1): c.592C> T (p.Arg198Ter) single nucleotide variant Pathogenic rs121918113 GRCh38 Chromosome 16, 28887236: 28887236
2 ATP2A1 NM_004320.4(ATP2A1): c.2025C> A (p.Cys675Ter) single nucleotide variant Pathogenic rs121918114 GRCh37 Chromosome 16, 28912162: 28912162
3 ATP2A1 ATP2A1, 1-BP DEL, 437C deletion Pathogenic
4 CLCN1 NM_000083.2(CLCN1): c.950G> A (p.Arg317Gln) single nucleotide variant Pathogenic/Likely pathogenic rs80356702 GRCh37 Chromosome 7, 143027961: 143027961
5 CLCN1 NM_000083.2(CLCN1): c.950G> A (p.Arg317Gln) single nucleotide variant Pathogenic/Likely pathogenic rs80356702 GRCh38 Chromosome 7, 143330868: 143330868
6 ATP2A1 NM_004320.4(ATP2A1): c.2025C> A (p.Cys675Ter) single nucleotide variant Pathogenic rs121918114 GRCh38 Chromosome 16, 28900841: 28900841
7 ATP2A1 ATP2A1, IVS3DS, G-C, -2 single nucleotide variant Pathogenic
8 ATP2A1 NM_004320.4(ATP2A1): c.592C> T (p.Arg198Ter) single nucleotide variant Pathogenic rs121918113 GRCh37 Chromosome 16, 28898557: 28898557
9 ATP2A1 NM_004320.4(ATP2A1): c.2366C> T (p.Pro789Leu) single nucleotide variant Pathogenic rs121918115 GRCh37 Chromosome 16, 28913549: 28913549
10 ATP2A1 NM_004320.4(ATP2A1): c.2366C> T (p.Pro789Leu) single nucleotide variant Pathogenic rs121918115 GRCh38 Chromosome 16, 28902228: 28902228
11 CYP24A1 NM_000782.4(CYP24A1): c.1186C> T (p.Arg396Trp) single nucleotide variant Pathogenic rs114368325 GRCh37 Chromosome 20, 52774675: 52774675
12 CYP24A1 NM_000782.4(CYP24A1): c.1186C> T (p.Arg396Trp) single nucleotide variant Pathogenic rs114368325 GRCh38 Chromosome 20, 54158136: 54158136
13 ATP2A1 NM_173201.3(ATP2A1): c.*1G> A single nucleotide variant Benign rs10499 GRCh37 Chromosome 16, 28915527: 28915527
14 ATP2A1 NM_173201.3(ATP2A1): c.*1G> A single nucleotide variant Benign rs10499 GRCh38 Chromosome 16, 28904206: 28904206
15 ATP2A1 NM_173201.3(ATP2A1): c.1614G> A (p.Thr538=) single nucleotide variant Benign/Likely benign rs12596913 GRCh37 Chromosome 16, 28909622: 28909622
16 ATP2A1 NM_173201.3(ATP2A1): c.1614G> A (p.Thr538=) single nucleotide variant Benign/Likely benign rs12596913 GRCh38 Chromosome 16, 28898301: 28898301
17 ATP2A1 NM_173201.3(ATP2A1): c.1764+6delC deletion Benign/Likely benign rs66716803 GRCh37 Chromosome 16, 28909778: 28909778
18 ATP2A1 NM_173201.3(ATP2A1): c.1764+6delC deletion Benign/Likely benign rs66716803 GRCh38 Chromosome 16, 28898457: 28898457
19 ATP2A1 NM_173201.3(ATP2A1): c.2595delC (p.Asn866Thrfs) deletion Conflicting interpretations of pathogenicity rs398124554 GRCh37 Chromosome 16, 28913971: 28913971
20 ATP2A1 NM_173201.3(ATP2A1): c.2595delC (p.Asn866Thrfs) deletion Conflicting interpretations of pathogenicity rs398124554 GRCh38 Chromosome 16, 28902650: 28902650
21 ATP2A1 NM_173201.3(ATP2A1): c.2774dupT (p.Met925Ilefs) duplication Conflicting interpretations of pathogenicity rs398124555 GRCh37 Chromosome 16, 28914380: 28914380
22 ATP2A1 NM_173201.3(ATP2A1): c.2774dupT (p.Met925Ilefs) duplication Conflicting interpretations of pathogenicity rs398124555 GRCh38 Chromosome 16, 28903059: 28903059
23 ATP2A1 NM_173201.3(ATP2A1): c.663C> G (p.Gly221=) single nucleotide variant Conflicting interpretations of pathogenicity rs113803159 GRCh37 Chromosome 16, 28898778: 28898778
24 ATP2A1 NM_173201.3(ATP2A1): c.663C> G (p.Gly221=) single nucleotide variant Conflicting interpretations of pathogenicity rs113803159 GRCh38 Chromosome 16, 28887457: 28887457
25 ATP2A1 NM_173201.3(ATP2A1): c.678T> C (p.Thr226=) single nucleotide variant Benign rs6565259 GRCh37 Chromosome 16, 28898793: 28898793
26 ATP2A1 NM_173201.3(ATP2A1): c.678T> C (p.Thr226=) single nucleotide variant Benign rs6565259 GRCh38 Chromosome 16, 28887472: 28887472
27 ATP2A1 NM_173201.3(ATP2A1): c.450C> T (p.Ile150=) single nucleotide variant Conflicting interpretations of pathogenicity rs781369773 GRCh37 Chromosome 16, 28893897: 28893897
28 ATP2A1 NM_173201.3(ATP2A1): c.450C> T (p.Ile150=) single nucleotide variant Conflicting interpretations of pathogenicity rs781369773 GRCh38 Chromosome 16, 28882576: 28882576
29 ATP2A1 NM_173201.3(ATP2A1): c.675C> T (p.Thr225=) single nucleotide variant Uncertain significance rs753160368 GRCh37 Chromosome 16, 28898790: 28898790
30 ATP2A1 NM_173201.3(ATP2A1): c.675C> T (p.Thr225=) single nucleotide variant Uncertain significance rs753160368 GRCh38 Chromosome 16, 28887469: 28887469
31 ATP2A1 NM_173201.3(ATP2A1): c.937G> A (p.Ala313Thr) single nucleotide variant Uncertain significance rs762549353 GRCh37 Chromosome 16, 28900116: 28900116
32 ATP2A1 NM_173201.3(ATP2A1): c.937G> A (p.Ala313Thr) single nucleotide variant Uncertain significance rs762549353 GRCh38 Chromosome 16, 28888795: 28888795
33 ATP2A1 NM_173201.3(ATP2A1): c.1809G> A (p.Pro603=) single nucleotide variant Benign/Likely benign rs151309999 GRCh37 Chromosome 16, 28911946: 28911946
34 ATP2A1 NM_173201.3(ATP2A1): c.1809G> A (p.Pro603=) single nucleotide variant Benign/Likely benign rs151309999 GRCh38 Chromosome 16, 28900625: 28900625
35 ATP2A1 NM_173201.3(ATP2A1): c.1935C> T (p.Asn645=) single nucleotide variant Conflicting interpretations of pathogenicity rs754620899 GRCh37 Chromosome 16, 28912072: 28912072
36 ATP2A1 NM_173201.3(ATP2A1): c.1935C> T (p.Asn645=) single nucleotide variant Conflicting interpretations of pathogenicity rs754620899 GRCh38 Chromosome 16, 28900751: 28900751
37 ATP2A1 NM_173201.3(ATP2A1): c.2082C> T (p.Tyr694=) single nucleotide variant Uncertain significance rs749931257 GRCh38 Chromosome 16, 28900898: 28900898
38 ATP2A1 NM_173201.3(ATP2A1): c.2082C> T (p.Tyr694=) single nucleotide variant Uncertain significance rs749931257 GRCh37 Chromosome 16, 28912219: 28912219
39 ATP2A1 NM_173201.3(ATP2A1): c.2285G> A (p.Arg762His) single nucleotide variant Uncertain significance rs886051882 GRCh38 Chromosome 16, 28902047: 28902047
40 ATP2A1 NM_173201.3(ATP2A1): c.2285G> A (p.Arg762His) single nucleotide variant Uncertain significance rs886051882 GRCh37 Chromosome 16, 28913368: 28913368
41 ATP2A1 NM_173201.3(ATP2A1): c.*95_*96delAT deletion Uncertain significance rs540528794 GRCh38 Chromosome 16, 28904300: 28904301
42 ATP2A1 NM_173201.3(ATP2A1): c.*95_*96delAT deletion Uncertain significance rs540528794 GRCh37 Chromosome 16, 28915621: 28915622
43 ATP2A1 NM_173201.3(ATP2A1): c.*287G> A single nucleotide variant Uncertain significance rs886051885 GRCh38 Chromosome 16, 28904492: 28904492
44 ATP2A1 NM_173201.3(ATP2A1): c.*287G> A single nucleotide variant Uncertain significance rs886051885 GRCh37 Chromosome 16, 28915813: 28915813
45 ATP2A1 NM_173201.3(ATP2A1): c.*298C> T single nucleotide variant Likely benign rs114173613 GRCh38 Chromosome 16, 28904503: 28904503
46 ATP2A1 NM_173201.3(ATP2A1): c.*298C> T single nucleotide variant Likely benign rs114173613 GRCh37 Chromosome 16, 28915824: 28915824
47 ATP2A1 NM_173201.3(ATP2A1): c.78G> A (p.Pro26=) single nucleotide variant Uncertain significance rs886051878 GRCh37 Chromosome 16, 28890070: 28890070
48 ATP2A1 NM_173201.3(ATP2A1): c.78G> A (p.Pro26=) single nucleotide variant Uncertain significance rs886051878 GRCh38 Chromosome 16, 28878749: 28878749
49 ATP2A1 NM_173201.3(ATP2A1): c.188G> A (p.Arg63Gln) single nucleotide variant Uncertain significance rs774708450 GRCh37 Chromosome 16, 28890873: 28890873
50 ATP2A1 NM_173201.3(ATP2A1): c.188G> A (p.Arg63Gln) single nucleotide variant Uncertain significance rs774708450 GRCh38 Chromosome 16, 28879552: 28879552

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:

38
# Name Kegg Source Accession
1 Calcium signaling pathway hsa04020

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

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.02 ATP2A1 ATP2A2 ATP2A3 CLCN1 RYR1
2
Show member pathways
12.46 ATP2A1 ATP2A2 ATP2A3 RYR1
3
Show member pathways
12.39 ATP2A1 ATP2A2 ATP2A3 RYR1
4
Show member pathways
12.38 ATP2A1 ATP2A2 ATP2A3 DMD RYR1
5
Show member pathways
12.2 ATP2A2 ATP2A3 RYR1
6
Show member pathways
12.08 ATP2A1 ATP2A2 ATP2A3
7 12.04 ATP2A1 ATP2A2 ATP2A3
8
Show member pathways
11.93 ATP2A1 ATP2A2 ATP2A3
9
Show member pathways
11.85 ATP2A1 ATP2A2 ATP2A3 CLCN1 RYR1
10 11.73 ATP2A1 ATP2A2 ATP2A3 RYR1
11
Show member pathways
11.68 ATP2A1 ATP2A2 ATP2A3
12 11.54 ATP2A1 ATP2A2 ATP2A3
13 11.3 ATP2A1 ATP2A2
14 11.26 ATP2A1 ATP2A2 ATP2A3
15 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 sarcoplasmic reticulum GO:0016529 9.46 ATP2A1 ATP2A2 ATP2A3 RYR1
2 sarcolemma GO:0042383 9.43 CLCN1 DMD RYR1
3 calcium channel complex GO:0034704 9.32 ATP2A1 RYR1
4 platelet dense tubular network membrane GO:0031095 9.13 ATP2A1 ATP2A2 ATP2A3
5 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 9.83 ATP2A1 ATP2A2 ATP2A3 CLCN1 RYR1
2 calcium ion transport GO:0006816 9.67 ATP2A1 ATP2A2 ATP2A3 RYR1
3 proton transmembrane transport GO:1902600 9.63 ATP2A1 ATP2A2 ATP2A3
4 calcium ion transmembrane transport GO:0070588 9.56 ATP2A1 ATP2A2 ATP2A3 RYR1
5 ATP hydrolysis coupled cation transmembrane transport GO:0099132 9.5 ATP2A1 ATP2A2 ATP2A3
6 cellular calcium ion homeostasis GO:0006874 9.46 ATP2A1 ATP2A2 ATP2A3 RYR1
7 positive regulation of endoplasmic reticulum calcium ion concentration GO:0032470 9.4 ATP2A1 ATP2A2
8 ion transmembrane transport GO:0034220 9.35 ATP2A1 ATP2A2 ATP2A3 CLCN1 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 proton-exporting ATPase activity, phosphorylative mechanism GO:0008553 9.13 ATP2A1 ATP2A2 ATP2A3
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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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