MCID: BRD001
MIFTS: 39

Brody Myopathy

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Brody Myopathy

MalaCards integrated aliases for Brody Myopathy:

Name: Brody Myopathy 54 12 50 24 25 56 71 29 13 14 69
Brody Disease 50 25 71
Sarcoplasmic Reticulum -Ca2+atpase Deficiency 50
Muscle Cramp 42
Brm 71

Characteristics:

Orphanet epidemiological data:

56
brody myopathy
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Adult;

OMIM:

54
Inheritance:
? autosomal dominant in one family.
autosomal recessive


HPO:

32
brody myopathy:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 601003
Disease Ontology 12 DOID:0050692
Orphanet 56 ORPHA53347
MESH via Orphanet 43 C536607
UMLS via Orphanet 70 C1832918
ICD10 via Orphanet 34 G71.8
MedGen 40 C1832918
MeSH 42 D009120
SNOMED-CT via HPO 65 258211005 55300003

Summaries for Brody Myopathy

NIH Rare Diseases : 50 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 angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps and acanthosis nigricans with muscle cramps and acral enlargement, 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 Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and CREB Pathway. Affiliated tissues include skeletal muscle, and related phenotypes are Increased shRNA abundance (Z-score > 2) and mortality/aging

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 : 54
Brody myopathy, a disorder of fast-twitch skeletal muscle function, is characterized by exercise-induced impairment of skeletal muscle relaxation, stifffening, 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.

Wikipedia : 72 Brody myopathy is a genetic... more...

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:

54

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

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

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


Clinical features from OMIM:

601003

Human phenotypes related to Brody Myopathy:

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

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

26
id 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:

44
id 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 ATP2A2 ATP2A3 DMD RYR1 ATP2A1
3 respiratory system MP:0005388 8.92 ATP2A1 ATP2A2 DMD RYR1

Drugs & Therapeutics for Brody Myopathy

Interventional clinical trials:


id 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:

id Genetic test Affiliating Genes
1 Brody Myopathy 29 24 ATP2A1

Anatomical Context for Brody Myopathy

MalaCards organs/tissues related to Brody Myopathy:

39
Skeletal Muscle

Publications for Brody Myopathy

Articles related to Brody Myopathy:

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

ClinVar genetic disease variations for Brody Myopathy:

6
id 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

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 GeneCards Suite gene sharing:

(show all 17)
id 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
12.52 ATP2A1 ATP2A2 ATP2A3 RYR1
4
Show member pathways
12.48 ATP2A1 ATP2A2 ATP2A3
5
Show member pathways
12.43 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
11.68 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:

id 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:

id 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:

id Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.35 ATP2A1 ATP2A2 ATP2A3 CYP24A1 DMD
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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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