BRM
MCID: BRD001
MIFTS: 47

Brody Myopathy (BRM) malady

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

Aliases & Classifications for Brody Myopathy

Aliases & Descriptions for Brody Myopathy:

Name: Brody Myopathy 54 12 50 24 25 56 66 29 13 14 69
Brody Disease 50 25 66
Sarcoplasmic Reticulum -Ca2+atpase Deficiency 50
Muscle Cramp 42
Brm 66

Characteristics:

Orphanet epidemiological data:

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

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
UMLS via Orphanet 70 C1832918
ICD10 via Orphanet 34 G71.8
MESH via Orphanet 43 C536607
MedGen 40 C1832918
MeSH 42 D009120

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. The drugs Simvastatin and Amitriptyline have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle and skeletal muscles, and related phenotype is 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).

UniProtKB/Swiss-Prot : 66 Brody myopathy: A disorder of muscle function that is characterized by painless muscle cramping and exercise-induced impairment of muscle relaxation.

Wikipedia : 71 Brody myopathy is a genetic... more...

Description from OMIM: 601003

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 by clinical synopsis from OMIM:

601003

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

MGI Mouse Phenotypes related to Brody Myopathy:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.92 ATP2A1 ATP2A2 ATP2A3 RYR1

Drugs & Therapeutics for Brody Myopathy

Drugs for Brody Myopathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 590)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Simvastatin Approved Phase 4,Phase 2,Phase 3 79902-63-9 54454
2
Amitriptyline Approved Phase 4,Phase 3,Phase 2 50-48-6 2160
3
Cyclobenzaprine Approved Phase 4,Phase 3,Phase 2 303-53-7 2895
4
Benzocaine Approved Phase 4,Phase 1 1994-09-7, 94-09-7 2337
5
Dexmedetomidine Approved, Vet_approved Phase 4,Phase 1 76631-46-4, 113775-47-6 68602 5311068 56032
6
Etomidate Approved Phase 4 33125-97-2 36339 667484
7
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4,Phase 2,Phase 3 437-38-7 3345
8
Midazolam Approved, Illicit Phase 4,Phase 3,Phase 1 59467-70-8 4192
9
Propofol Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3 2078-54-8 4943
10
Remifentanil Approved Phase 4 132875-61-7 60815
11
Ticagrelor Approved Phase 4 274693-27-5 9871419
12
Ticlopidine Approved Phase 4,Phase 3 55142-85-3 5472
13
Pregabalin Approved, Illicit, Investigational Phase 4,Phase 3 148553-50-8 5486971
14
Ketorolac Approved Phase 4,Phase 2,Phase 3 74103-06-3, 66635-83-4 3826
15
Adenosine Approved, Investigational Phase 4 58-61-7 60961
16
Acetylcholine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-84-3 187
17
Bupivacaine Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 2180-92-9, 38396-39-3 2474
18
Dopamine Approved Phase 4,Phase 3 51-61-6, 62-31-7 681
19
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3 83-43-2 6741
20
Prednisolone Approved, Vet_approved Phase 4,Phase 3 50-24-8 5755
21
Nitroglycerin Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 55-63-0 4510
22
Leuprolide Approved, Investigational Phase 4,Phase 3 53714-56-0 3911 657181
23
Mexiletine Approved Phase 4,Phase 2 31828-71-4 4178
24
Ibuprofen Approved Phase 4,Phase 3,Phase 2 15687-27-1 3672
25
Propranolol Approved, Investigational Phase 4 525-66-6 4946
26
Acetaminophen Approved Phase 4,Phase 2 103-90-2 1983
27
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754 657311
28
Tramadol Approved, Investigational Phase 4 27203-92-5 33741
29 Piracetam Approved Phase 4,Phase 2 7491-74-9
30
Aminophylline Approved Phase 4 317-34-0 9433
31
Regadenoson Approved Phase 4 313348-27-5 219024
32
Ropivacaine Approved Phase 4,Phase 3 84057-95-4 71273 175805
33
Piroxicam Approved, Investigational Phase 4 36322-90-4 5280452 54676228
34
Montelukast Approved Phase 4,Phase 3 158966-92-8 5281040
35
Chlorzoxazone Approved Phase 4 95-25-0 2733
36
Morphine Approved, Investigational Phase 4 57-27-2 5288826
37
Ondansetron Approved Phase 4 99614-02-5 4595
38
Oxytocin Approved, Vet_approved Phase 4 50-56-6 439302 53477758
39
Copper Approved Phase 4 15158-11-9, 7440-50-8 27099
40
Neostigmine Approved, Vet_approved Phase 4 59-99-4 4456
41
Secretin Approved, Investigational Phase 4 108153-74-8
42
Naloxone Approved, Vet_approved Phase 4,Phase 3 465-65-6 5284596
43
Oxycodone Approved, Illicit, Investigational Phase 4,Phase 3 76-42-6 5284603
44
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
45
Ipratropium Approved Phase 4 22254-24-6, 60205-81-4 43232
46
Epinephrine Approved, Vet_approved Phase 4,Phase 2,Phase 1 51-43-4 5816
47
Mannitol Approved, Investigational Phase 4 69-65-8 453 6251
48
Nitric Oxide Approved Phase 4 10102-43-9 145068
49
Prilocaine Approved Phase 4 721-50-6 4906
50
Carbidopa Approved Phase 4 28860-95-9 34359 38101

Interventional clinical trials:

(show top 50) (show all 578)
id Name Status NCT ID Phase
1 The Effect of Sarpogrelate and High Dose Statin on the Reduction of Coronary Spasm Unknown status NCT01674686 Phase 4
2 Cyclobenzaprine Extended Release (ER) for Fibromyalgia Unknown status NCT01041495 Phase 4
3 Effect of Dexmedetomidine on Levels of Plasma Inflammatory Factor in Asthma Patients Undergoing General Anesthesia Unknown status NCT02289391 Phase 4
4 Functional Electrical Stimulation-Assisted Walking: Reduction of Secondary Complications Due to Spinal Cord Injury Unknown status NCT00201968 Phase 4
5 Ticagrelor and Clopidogrel on Reperfusion in Patients With AMI Unknown status NCT02233790 Phase 4
6 Combined Use of Etomidate and Propofol in Painless Gastroscopy. Unknown status NCT01913054 Phase 4
7 Pregabalin for the Treatment and Prevention of Spinal Cord Injury Neuropathic Pain Unknown status NCT01479556 Phase 4
8 Mexiletine for the Treatment of Muscle Cramps in ALS Completed NCT01811355 Phase 4
9 An Effectiveness and Safety Study of Cyclobenzaprine HCl Alone or in Combination With Ibuprofen for Acute Back or Neck Muscle Pain With Muscle Spasm Completed NCT00246389 Phase 4
10 Study of Arm and Putter Movement in Golfers With Golfer's Cramp Completed NCT02032758 Phase 4
11 Does Oral Magnesium Substitution Relieve Pregnancy Induced Leg Cramps ? Completed NCT00525317 Phase 4
12 Trial Assessing Maternal Post-Partum Pain Completed NCT01271855 Phase 4
13 Levetiracetam in Chronic Neuropathic Pain Following Spinal Cord Injury Completed NCT00252954 Phase 4
14 Tolerability and Satisfaction With Evie Completed NCT01969812 Phase 4
15 Efficacy of Nebulised Beclometasone in Viral Wheezing Prophylaxis Completed NCT01265342 Phase 4
16 Attenuation of the Side Effect Profile of Regadenoson: Study With Aminophylline in Patients Undergoing Myocardial Perfusion Imaging Completed NCT01250496 Phase 4
17 Influence of Epidural Analgesia in Elective Laparoscopic Colorectal Resections Completed NCT00512395 Phase 4
18 Living With Statins - The Impact of Cholesterol Lowering Drugs on Health, Lifestyle and Well-being Completed NCT02255682 Phase 4
19 Efficacy of Banhasasim-tang on Functional Dyspepsia Completed NCT00987805 Phase 4
20 Comparative Efficacy of Three Preparations of Botox-A in Treating Spasticity Completed NCT00178646 Phase 4
21 A Double Blind, Double Dummy, Randomized, Comparative Study Of The Efficacy And Safety Of Valdecoxib 40 Mg Twice Daily, As Needed In The First Menstrual Cycle Day And Then Once A Day, And Piroxicam 40 Mg Once A Day In The Treatment Of Patients With Primar Completed NCT00649415 Phase 4
22 Quantifying Musical Performance After Treatment With Myobloc in Musician's Dystonia Completed NCT00208091 Phase 4
23 BOTOX® Economic Spasticity Trial (BEST) Completed NCT00549783 Phase 4
24 Preoperative Use of Montelukast Sodium Completed NCT02494466 Phase 4
25 The Effect of Chlorzoxazone on Moderate to Severe Postoperative Pain After Spine Surgery Completed NCT01933542 Phase 4
26 Optimal Balloon Catheter Placement During Sonohysterography Completed NCT01936116 Phase 4
27 Hyoscine Butyl Bromide in Reducing Pain During HSG Completed NCT02709603 Phase 4
28 Cardiac Effects of Oxytocin Administrated During Cesarean Section, Signs of Myocardial Ischemia Completed NCT00777166 Phase 4
29 Botox as a Treatment for Interstitial Cystitis in Women Completed NCT00194610 Phase 4
30 Efficacy and Safety of the Use of Venocur Triplex® in Patients With Chronic Venous Insufficiency Completed NCT00835822 Phase 4
31 Immediate Versus Delayed Insertion of the Copper Intrauterine Device (IUD) After Medication Abortion Completed NCT00737178 Phase 4
32 A Study of Serial Magnetic Resonance Cholangiopancreatography (MRCP) Following Morphine-neostigmine and Secretin Provocation in Healthy Volunteers Completed NCT01134848 Phase 4
33 Study Comparing PEG 3350 Laxative to Placebo in the Treatment of Occasional Constipation (Study CL2007-12)(P08216) Completed NCT00770432 Phase 4
34 Oral Oxycodone After Major Cardiac Surgery Completed NCT01816581 Phase 4
35 Intermittent Epidural Bolus Versus Epidural Infusion for Posterior Spinal Fusion After Adolescent Idiopathic Scoliosis Completed NCT02669004 Phase 4
36 Long-Term Lamivudine Therapy for Chronic Hepatitis B Completed NCT00120354 Phase 4
37 A Study to Evaluate Safety and Immunogenicity of the Bivalent Killed Whole Cell Oral Cholera Vaccine in Adults and Children Completed NCT00760825 Phase 4
38 Combivent vs. Salbutamol in Patients With Metacholine Induced Bronchospasm Completed NCT02182713 Phase 4
39 Post Marketing Surveillance Study of Dysport Completed NCT00210431 Phase 4
40 Effectiveness of Ipratropium Bromide in Preventing Exercise-induced Bronchoconstriction in Athletes Completed NCT01691079 Phase 4
41 Exercise Induced Bronchospasm in Children Completed NCT00273689 Phase 4
42 A Study Measuring Asthma Control In Pediatric And Adolescent Subjects Whose Asthma Is Worsened By Activity Or Exercise Completed NCT00118716 Phase 4
43 A Study Measuring Asthma Control In Pediatric And Adolescent Subjects Whose Asthma Is Worsened By Activity Or Exercise Completed NCT00118690 Phase 4
44 The Effect of Corticotrophin-releasing Hormone (CRH) on Esophageal Motility in Healthy Volunteers Completed NCT02736734 Phase 4
45 Evaluation of Ureteral Patency in the Post-indigo Carmine Era Completed NCT02677623 Phase 4
46 Analgesic Efficacy of Ultrasound-guided Transverse-abdominal Plain Blockade in Urological Surgery Completed NCT01501565 Phase 4
47 Long-term Study of Duodopa (Levodopa/Carbidopa) in Advanced Parkinson's: Health Outcomes & Net Economic Impact Completed NCT00141518 Phase 4
48 Levetiracetam in Central Pain in Multiple Sclerosis(MS) Completed NCT00423527 Phase 4
49 Comparison of Post-dilution On-line Hemodiafiltration and Hemodialysis Completed NCT00411177 Phase 4
50 Carvedilol Post-intervention Long-term Administration in Large-scale Trial Completed NCT01155635 Phase 4

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

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

18
Skeletal Muscles

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:

66
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.2025C> A (p.Cys675Ter) single nucleotide variant Pathogenic rs121918114 GRCh37 Chromosome 16, 28912162: 28912162
2 ATP2A1 NM_004320.4(ATP2A1): c.592C> T (p.Arg198Ter) single nucleotide variant Pathogenic rs121918113 GRCh37 Chromosome 16, 28898557: 28898557
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 20)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.98 ATP2A1 ATP2A2 ATP2A3 RYR1
2
Show member pathways
12.92 ATP2A1 ATP2A2 ATP2A3 RYR1
3
Show member pathways
12.67 ATP2A1 ATP2A2 RYR1
4
Show member pathways
12.52 ATP2A1 ATP2A2 ATP2A3 RYR1
5
Show member pathways
12.48 ATP2A1 ATP2A2 ATP2A3
6
Show member pathways
12.43 ATP2A1 ATP2A2 ATP2A3 RYR1
7
Show member pathways
12.37 ATP2A1 ATP2A2 ATP2A3 RYR1
8
Show member pathways
12.19 ATP2A2 ATP2A3 RYR1
9
Show member pathways
12.07 ATP2A1 ATP2A2 ATP2A3
10
Show member pathways
12.05 ATP2A1 ATP2A2 ATP2A3 RYR1
11 12.03 ATP2A1 ATP2A2 ATP2A3
12
Show member pathways
11.93 ATP2A1 ATP2A2 ATP2A3
13 11.87 ATP2A1 ATP2A2
14
Show member pathways
11.71 ATP2A1 ATP2A2 ATP2A3
15 11.67 ATP2A2 RYR1
16
Show member pathways
11.53 ATP2A1 ATP2A2 ATP2A3 RYR1
17 11.48 ATP2A1 ATP2A2 ATP2A3
18 11.31 ATP2A1 ATP2A2
19 11.1 ATP2A1 ATP2A2 ATP2A3
20 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 endoplasmic reticulum membrane GO:0005789 9.43 ATP2A1 ATP2A2 ATP2A3
2 platelet dense tubular network membrane GO:0031095 9.33 ATP2A1 ATP2A2 ATP2A3
3 sarcoplasmic reticulum GO:0016529 9.26 ATP2A1 ATP2A2 ATP2A3 RYR1
4 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 transport GO:0006810 9.78 ATP2A1 ATP2A2 ATP2A3 RYR1
2 ion transport GO:0006811 9.71 ATP2A1 ATP2A2 ATP2A3 RYR1
3 ion transmembrane transport GO:0034220 9.67 ATP2A1 ATP2A2 ATP2A3 RYR1
4 cellular calcium ion homeostasis GO:0006874 9.46 ATP2A2 RYR1
5 calcium ion transport GO:0006816 9.46 ATP2A1 ATP2A2 ATP2A3 RYR1
6 response to endoplasmic reticulum stress GO:0034976 9.43 ATP2A1 ATP2A2
7 ATP hydrolysis coupled cation transmembrane transport GO:0099132 9.43 ATP2A1 ATP2A2 ATP2A3
8 positive regulation of endoplasmic reticulum calcium ion concentration GO:0032470 9.32 ATP2A1 ATP2A2
9 calcium ion transmembrane transport GO:0070588 9.26 ATP2A1 ATP2A2 ATP2A3 RYR1
10 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 calcium ion binding GO:0005509 9.33 ATP2A1 ATP2A2 RYR1
2 ATP binding GO:0005524 9.26 ATP2A1 ATP2A2 ATP2A3 RYR1
3 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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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