MCID: BRD001
MIFTS: 38

Brody Myopathy

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

Aliases & Classifications for Brody Myopathy

MalaCards integrated aliases for Brody Myopathy:

Name: Brody Myopathy 57 12 76 53 25 59 75 37 29 13 6 15 73
Brody Disease 53 25 75
Sarcoplasmic Reticulum -Ca2+atpase Deficiency 53
Myopathy, Brody 40
Muscle Cramp 44
Brm 75

Characteristics:

Orphanet epidemiological data:

59
brody myopathy
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal recessive
? autosomal dominant in one family.


HPO:

32
brody myopathy:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 601003
Disease Ontology 12 DOID:0050692
Orphanet 59 ORPHA53347
UMLS via Orphanet 74 C1832918
ICD10 via Orphanet 34 G71.8
MESH via Orphanet 45 C536607
MedGen 42 C1832918
MeSH 44 D009120
KEGG 37 H01129
SNOMED-CT via HPO 69 258211005 55300003
UMLS 73 C1832918

Summaries for Brody Myopathy

NIH Rare Diseases : 53 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 pseudomyotonia and malignant hyperthermia. 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 cramps 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 : 25 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 : 57 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 : 75 Brody myopathy: A disorder of muscle function that is characterized by painless muscle cramping and exercise-induced impairment of muscle relaxation.

Wikipedia : 76 Brody myopathy is a genetic... more...

Related Diseases for Brody Myopathy

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

(show all 44)
# Related Disease Score Top Affiliating Genes
1 pseudomyotonia 30.0 ATP2A1 ATP2A2
2 malignant hyperthermia 28.6 DMD RYR1
3 myopathy 28.2 ATP2A1 CLCN1 DMD RYR1
4 angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 12.5
5 acanthosis nigricans with muscle cramps and acral enlargement 12.4
6 muscle cramps, familial 12.1
7 myotonic dystrophy 1 10.3 ATP2A1 CLCN1
8 myotonia 10.1 CLCN1 DMD
9 hepatocellular carcinoma 10.0
10 malignant hyperthermia susceptibility 9.9
11 darier-white disease 9.9 ATP2A2 ATP2A3
12 renal cell carcinoma, nonpapillary 9.9
13 prostate cancer 9.9
14 lung cancer 9.9
15 pancreatic cancer 9.9
16 gastric cancer 9.9
17 sarcoma 9.9
18 prostatitis 9.9
19 squamous cell carcinoma 9.9
20 clear cell renal cell carcinoma 9.9
21 pancreatitis 9.9
22 myopathy, tubular aggregate, 1 9.8 ATP2A1 RYR1
23 familial periodic paralysis 9.8 CLCN1 RYR1
24 muscle disorders 9.7 CLCN1 RYR1
25 retinoblastoma 9.7
26 small cell cancer of the lung 9.7
27 sarcoma, synovial 9.7
28 human immunodeficiency virus type 1 9.7
29 hepatitis 9.7
30 esophagitis 9.7
31 melancholia 9.7
32 pulmonary tuberculosis 9.7
33 adenocarcinoma 9.7
34 retinitis 9.7
35 rhabdoid cancer 9.7
36 epithelioid sarcoma 9.7
37 hypoxia 9.7
38 hypokalemic periodic paralysis, type 1 9.7 CLCN1 RYR1
39 myopathy, congenital 9.6 DMD RYR1
40 rigid spine muscular dystrophy 1 9.6 DMD RYR1
41 centronuclear myopathy 9.5 DMD RYR1
42 myotonic disease 9.4 ATP2A1 CLCN1 RYR1
43 congenital fiber-type disproportion 9.4 DMD RYR1
44 muscle tissue disease 9.3 CLCN1 DMD RYR1

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:

57
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:

32
# Description HPO Frequency HPO Source Accession
1 muscle cramps 32 HP:0003394

MGI Mouse Phenotypes related to Brody Myopathy:

46
# 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 29 ATP2A1

Anatomical Context for Brody Myopathy

MalaCards organs/tissues related to Brody Myopathy:

41
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:

75
# 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 175)
# 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 NM_004320.4(ATP2A1): c.2025C> A (p.Cys675Ter) single nucleotide variant Pathogenic rs121918114 GRCh38 Chromosome 16, 28900841: 28900841
4 ATP2A1 ATP2A1, IVS3DS, G-C, -2 single nucleotide variant Pathogenic
5 ATP2A1 ATP2A1, 1-BP DEL, 437C deletion Pathogenic
6 CLCN1 NM_000083.2(CLCN1): c.950G> A (p.Arg317Gln) single nucleotide variant Pathogenic/Likely pathogenic rs80356702 GRCh37 Chromosome 7, 143027961: 143027961
7 CLCN1 NM_000083.2(CLCN1): c.950G> A (p.Arg317Gln) single nucleotide variant Pathogenic/Likely pathogenic rs80356702 GRCh38 Chromosome 7, 143330868: 143330868
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.450C> T (p.Ile150=) single nucleotide variant Conflicting interpretations of pathogenicity rs781369773 GRCh37 Chromosome 16, 28893897: 28893897
14 ATP2A1 NM_173201.3(ATP2A1): c.450C> T (p.Ile150=) single nucleotide variant Conflicting interpretations of pathogenicity rs781369773 GRCh38 Chromosome 16, 28882576: 28882576
15 ATP2A1 NM_173201.3(ATP2A1): c.675C> T (p.Thr225=) single nucleotide variant Uncertain significance rs753160368 GRCh37 Chromosome 16, 28898790: 28898790
16 ATP2A1 NM_173201.3(ATP2A1): c.675C> T (p.Thr225=) single nucleotide variant Uncertain significance rs753160368 GRCh38 Chromosome 16, 28887469: 28887469
17 ATP2A1 NM_173201.3(ATP2A1): c.937G> A (p.Ala313Thr) single nucleotide variant Uncertain significance rs762549353 GRCh37 Chromosome 16, 28900116: 28900116
18 ATP2A1 NM_173201.3(ATP2A1): c.937G> A (p.Ala313Thr) single nucleotide variant Uncertain significance rs762549353 GRCh38 Chromosome 16, 28888795: 28888795
19 ATP2A1 NM_173201.3(ATP2A1): c.1809G> A (p.Pro603=) single nucleotide variant Benign/Likely benign rs151309999 GRCh37 Chromosome 16, 28911946: 28911946
20 ATP2A1 NM_173201.3(ATP2A1): c.1809G> A (p.Pro603=) single nucleotide variant Benign/Likely benign rs151309999 GRCh38 Chromosome 16, 28900625: 28900625
21 ATP2A1 NM_173201.3(ATP2A1): c.1935C> T (p.Asn645=) single nucleotide variant Conflicting interpretations of pathogenicity rs754620899 GRCh37 Chromosome 16, 28912072: 28912072
22 ATP2A1 NM_173201.3(ATP2A1): c.1935C> T (p.Asn645=) single nucleotide variant Conflicting interpretations of pathogenicity rs754620899 GRCh38 Chromosome 16, 28900751: 28900751
23 ATP2A1 NM_173201.3(ATP2A1): c.2082C> T (p.Tyr694=) single nucleotide variant Uncertain significance rs749931257 GRCh37 Chromosome 16, 28912219: 28912219
24 ATP2A1 NM_173201.3(ATP2A1): c.2082C> T (p.Tyr694=) single nucleotide variant Uncertain significance rs749931257 GRCh38 Chromosome 16, 28900898: 28900898
25 ATP2A1 NM_173201.3(ATP2A1): c.2285G> A (p.Arg762His) single nucleotide variant Uncertain significance rs886051882 GRCh38 Chromosome 16, 28902047: 28902047
26 ATP2A1 NM_173201.3(ATP2A1): c.2285G> A (p.Arg762His) single nucleotide variant Uncertain significance rs886051882 GRCh37 Chromosome 16, 28913368: 28913368
27 ATP2A1 NM_173201.3(ATP2A1): c.*95_*96delAT deletion Uncertain significance rs540528794 GRCh38 Chromosome 16, 28904300: 28904301
28 ATP2A1 NM_173201.3(ATP2A1): c.*95_*96delAT deletion Uncertain significance rs540528794 GRCh37 Chromosome 16, 28915621: 28915622
29 ATP2A1 NM_173201.3(ATP2A1): c.*287G> A single nucleotide variant Uncertain significance rs886051885 GRCh38 Chromosome 16, 28904492: 28904492
30 ATP2A1 NM_173201.3(ATP2A1): c.*287G> A single nucleotide variant Uncertain significance rs886051885 GRCh37 Chromosome 16, 28915813: 28915813
31 ATP2A1 NM_173201.3(ATP2A1): c.*298C> T single nucleotide variant Likely benign rs114173613 GRCh38 Chromosome 16, 28904503: 28904503
32 ATP2A1 NM_173201.3(ATP2A1): c.*298C> T single nucleotide variant Likely benign rs114173613 GRCh37 Chromosome 16, 28915824: 28915824
33 ATP2A1 NM_173201.3(ATP2A1): c.1176G> A (p.Glu392=) single nucleotide variant Uncertain significance rs886051879 GRCh38 Chromosome 16, 28894235: 28894235
34 ATP2A1 NM_173201.3(ATP2A1): c.78G> A (p.Pro26=) single nucleotide variant Uncertain significance rs886051878 GRCh37 Chromosome 16, 28890070: 28890070
35 ATP2A1 NM_173201.3(ATP2A1): c.78G> A (p.Pro26=) single nucleotide variant Uncertain significance rs886051878 GRCh38 Chromosome 16, 28878749: 28878749
36 ATP2A1 NM_173201.3(ATP2A1): c.1941G> A (p.Glu647=) single nucleotide variant Uncertain significance rs886051880 GRCh38 Chromosome 16, 28900757: 28900757
37 ATP2A1 NM_173201.3(ATP2A1): c.188G> A (p.Arg63Gln) single nucleotide variant Uncertain significance rs774708450 GRCh37 Chromosome 16, 28890873: 28890873
38 ATP2A1 NM_173201.3(ATP2A1): c.188G> A (p.Arg63Gln) single nucleotide variant Uncertain significance rs774708450 GRCh38 Chromosome 16, 28879552: 28879552
39 ATP2A1 NM_173201.3(ATP2A1): c.2091C> G (p.Ile697Met) single nucleotide variant Uncertain significance rs886051881 GRCh38 Chromosome 16, 28900907: 28900907
40 ATP2A1 NM_173201.3(ATP2A1): c.2091C> G (p.Ile697Met) single nucleotide variant Uncertain significance rs886051881 GRCh37 Chromosome 16, 28912228: 28912228
41 ATP2A1 NM_173201.3(ATP2A1): c.1176G> A (p.Glu392=) single nucleotide variant Uncertain significance rs886051879 GRCh37 Chromosome 16, 28905556: 28905556
42 ATP2A1 NM_173201.3(ATP2A1): c.1560C> T (p.Gly520=) single nucleotide variant Conflicting interpretations of pathogenicity rs138565447 GRCh37 Chromosome 16, 28909568: 28909568
43 ATP2A1 NM_173201.3(ATP2A1): c.1560C> T (p.Gly520=) single nucleotide variant Conflicting interpretations of pathogenicity rs138565447 GRCh38 Chromosome 16, 28898247: 28898247
44 ATP2A1 NM_173201.3(ATP2A1): c.1722G> A (p.Glu574=) single nucleotide variant Uncertain significance rs145043756 GRCh37 Chromosome 16, 28909730: 28909730
45 ATP2A1 NM_173201.3(ATP2A1): c.1722G> A (p.Glu574=) single nucleotide variant Uncertain significance rs145043756 GRCh38 Chromosome 16, 28898409: 28898409
46 ATP2A1 NM_173201.3(ATP2A1): c.1780G> A (p.Val594Met) single nucleotide variant Uncertain significance rs142091964 GRCh37 Chromosome 16, 28911917: 28911917
47 ATP2A1 NM_173201.3(ATP2A1): c.1780G> A (p.Val594Met) single nucleotide variant Uncertain significance rs142091964 GRCh38 Chromosome 16, 28900596: 28900596
48 ATP2A1 NM_173201.3(ATP2A1): c.1941G> A (p.Glu647=) single nucleotide variant Uncertain significance rs886051880 GRCh37 Chromosome 16, 28912078: 28912078
49 ATP2A1 NM_173201.3(ATP2A1): c.2310C> T (p.Gly770=) single nucleotide variant Uncertain significance rs7192781 GRCh38 Chromosome 16, 28902072: 28902072
50 ATP2A1 NM_173201.3(ATP2A1): c.2310C> T (p.Gly770=) single nucleotide variant Uncertain significance rs7192781 GRCh37 Chromosome 16, 28913393: 28913393

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:

37
# 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
13.04 ATP2A1 ATP2A2 ATP2A3 CLCN1 RYR1
2
Show member pathways
12.46 ATP2A1 ATP2A2 ATP2A3 RYR1
3
Show member pathways
12.38 ATP2A1 ATP2A2 ATP2A3 DMD RYR1
4
Show member pathways
12.37 ATP2A1 ATP2A2 ATP2A3 RYR1
5
Show member pathways
12.2 ATP2A2 ATP2A3 RYR1
6
Show member pathways
12.08 ATP2A1 ATP2A2 ATP2A3
7 12.03 ATP2A1 ATP2A2 ATP2A3
8
Show member pathways
11.93 ATP2A1 ATP2A2 ATP2A3
9
Show member pathways
11.85 ATP2A1 ATP2A2 ATP2A3 CLCN1 RYR1
10
Show member pathways
11.73 ATP2A1 ATP2A2 ATP2A3 RYR1
11
Show member pathways
11.68 ATP2A1 ATP2A2 ATP2A3
12 11.53 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 sarcolemma GO:0042383 9.43 CLCN1 DMD RYR1
2 platelet dense tubular network membrane GO:0031095 9.33 ATP2A1 ATP2A2 ATP2A3
3 calcium channel complex GO:0034704 9.32 ATP2A1 RYR1
4 sarcoplasmic reticulum GO:0016529 9.26 ATP2A1 ATP2A2 ATP2A3 RYR1
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 calcium ion transmembrane transport GO:0070588 9.56 ATP2A1 ATP2A2 ATP2A3 RYR1
4 ion transmembrane transport GO:0034220 9.55 ATP2A1 ATP2A2 ATP2A3 CLCN1 RYR1
5 ATP hydrolysis coupled cation transmembrane transport GO:0099132 9.5 ATP2A1 ATP2A2 ATP2A3
6 positive regulation of endoplasmic reticulum calcium ion concentration GO:0032470 9.4 ATP2A1 ATP2A2
7 cellular calcium ion homeostasis GO:0006874 9.26 ATP2A1 ATP2A2 ATP2A3 RYR1
8 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 calcium-transporting ATPase activity GO:0005388 9.13 ATP2A1 ATP2A2 ATP2A3
2 proton-exporting ATPase activity, phosphorylative mechanism GO:0008553 8.8 ATP2A1 ATP2A2 ATP2A3

Sources for Brody Myopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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