BRM
MCID: BRD001
MIFTS: 55

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 57 12 75 53 25 59 74 37 29 13 6 44 15 72
Brody Disease 53 25 74
Muscle Cramp 44 17
Sarcoplasmic Reticulum -Ca2+atpase Deficiency 53
Myopathy, Brody 40
Brm 74

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:

Disease Ontology 12 DOID:0050692
OMIM 57 601003
KEGG 37 H01129
MESH via Orphanet 45 C536607
ICD10 via Orphanet 34 G71.8
UMLS via Orphanet 73 C1832918
Orphanet 59 ORPHA53347
MedGen 42 C1832918
UMLS 72 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 muscular disease and myotonic disease. 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. The drugs Amitriptyline and Cyclobenzaprine have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, kidney and liver, 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 : 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). In some people with Brody myopathy, exercise leads to the breakdown of muscle tissue (rhabdomyolysis). The destruction of muscle tissue releases a protein called myoglobin, which is processed by the kidneys and released in the urine (myoglobinuria). Myoglobin causes the urine to be red or brown.

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)

KEGG : 37
Brody myopathy is an autosomal recessive disorder of skeletal muscle function characterized by painless muscle contracture and exercise-induced impairment of muscle relaxation due to a defect of calcium reuptake. Mutations in the human ATP2A1 gene, that encodes one of the SERCA Ca(2+)-ATPases, cause Brody myopathy.

UniProtKB/Swiss-Prot : 74 Brody myopathy: A disorder of muscle function that is characterized by painless muscle cramping and exercise-induced impairment of muscle relaxation.

Wikipedia : 75 Brody myopathy, is a rare disorder that affects skeletal muscle function. BD was first characterized in... 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 254)
# Related Disease Score Top Affiliating Genes
1 muscular disease 30.6 RYR1 DMD CLCN1 ATP2A1
2 myotonic disease 30.2 CLCN1 ATP2A1
3 pseudomyotonia 29.9 ATP2A2 ATP2A1
4 neuromuscular disease 29.9 RYR1 DMD
5 angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 12.9
6 acanthosis nigricans with muscle cramps and acral enlargement 12.7
7 muscle cramps, familial 12.4
8 cramp-fasciculation syndrome 11.4
9 charcot-marie-tooth disease 11.4
10 machado-joseph disease 11.4
11 episodic ataxia 11.4
12 hypoparathyroidism 11.4
13 glycogen storage disease vii 11.3
14 spinal and bulbar muscular atrophy, x-linked 1 11.3
15 glycogen storage disease v 11.3
16 neuropathy, hereditary motor and sensory, okinawa type 11.3
17 dystonia, focal, task-specific 11.3
18 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 11.2
19 gitelman syndrome 11.2
20 spinal muscular atrophy, jokela type 11.2
21 myopathy, vacuolar, with casq1 aggregates 11.2
22 dystonia 12 11.0
23 neuromyotonia and axonal neuropathy, autosomal recessive 11.0
24 neuropathy, hereditary, with liability to pressure palsies 11.0
25 optic atrophy 1 11.0
26 buerger disease 11.0
27 erythrocyte lactate transporter defect 11.0
28 3-methylglutaconic aciduria, type i 11.0
29 muscular dystrophy, limb-girdle, autosomal recessive 8 11.0
30 glycogen storage disease x 11.0
31 dystonia 3, torsion, x-linked 11.0
32 diabetes and deafness, maternally inherited 11.0
33 rippling muscle disease 1 11.0
34 hereditary motor and sensory neuropathy v 11.0
35 hypocalcemia, autosomal dominant 1 11.0
36 muscular dystrophy, limb-girdle, autosomal recessive 6 11.0
37 spastic paraplegia 35, autosomal recessive 11.0
38 parkinsonism-dystonia, infantile, 1 11.0
39 arachnoiditis 11.0
40 cholera 11.0
41 vipoma 11.0
42 mitochondrial membrane protein-associated neurodegeneration 11.0
43 autosomal dominant charcot-marie-tooth disease type 2 with giant axons 11.0
44 bartter syndrome type 4 11.0
45 thyrotoxic periodic paralysis 11.0
46 autoimmune addison disease 11.0
47 opioid addiction 11.0
48 liver cirrhosis 10.6
49 amyotrophic lateral sclerosis 1 10.4
50 lateral sclerosis 10.4

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:

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

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

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

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

(show top 50) (show all 134)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Amitriptyline Approved Phase 4 50-48-6 2160
2
Cyclobenzaprine Approved Phase 4 303-53-7 2895
3
Mexiletine Approved, Investigational Phase 4 31828-71-4 4178
4
Propranolol Approved, Investigational Phase 4 525-66-6 4946
5
Ibuprofen Approved Phase 4 15687-27-1 3672
6
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
7
Nitroglycerin Approved, Investigational Phase 4 55-63-0 4510
8
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
9
Tocopherol Approved, Investigational Phase 4 1406-66-2, 54-28-4 14986
10
Ropinirole Approved, Investigational Phase 4 91374-21-9, 91374-20-8 5095 497540
11
Magnesium oxide Approved Phase 4 1309-48-4 14792
12
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
13 Tocotrienol Investigational Phase 4 6829-55-6
14 Analgesics Phase 4
15 Tranquilizing Agents Phase 4
16 Psychotropic Drugs Phase 4
17 Antirheumatic Agents Phase 4
18 PK 11195 Phase 4 85532-75-8
19 Antidepressive Agents Phase 4
20 Adrenergic Agents Phase 4
21 Amitriptyline, perphenazine drug combination Phase 4
22 Neurotransmitter Uptake Inhibitors Phase 4
23 Analgesics, Non-Narcotic Phase 4
24 Antidepressive Agents, Tricyclic Phase 4
25 Antihypertensive Agents Phase 4
26 Adrenergic Antagonists Phase 4
27 Adrenergic beta-Antagonists Phase 4
28 Anti-Inflammatory Agents Phase 4
29 Cyclooxygenase Inhibitors Phase 4
30 Anti-Inflammatory Agents, Non-Steroidal Phase 4
31 Central Nervous System Depressants Phase 4
32 Peripheral Nervous System Agents Phase 4
33 Sodium Channel Blockers Phase 4
34 Diuretics, Potassium Sparing Phase 4
35 Anesthetics Phase 4
36 Anti-Arrhythmia Agents Phase 4
37 Vasodilator Agents Phase 4
38 Anesthetics, Local Phase 4
39 Dopamine Agents Phase 4
40 Antioxidants Phase 4
41 Tocotrienols Phase 4
42 Protective Agents Phase 4
43 Dopamine agonists Phase 4
44 Tocopherols Phase 4
45 Antiparkinson Agents Phase 4
46
Bilirubin Phase 4 635-65-4, 69853-43-6 5280352 21252250
47 Gastrointestinal Agents Phase 4
48 Antacids Phase 4
49 Anti-Ulcer Agents Phase 4
50
Pregabalin Approved, Illicit, Investigational Phase 3 148553-50-8 5486971

Interventional clinical trials:

(show top 50) (show all 55)
# Name Status NCT ID Phase Drugs
1 Neuroinflammation in Children With Infantile Spasms Measured With 11C-PK11195 Positron Emission Tomography: Response to ACTH Completed NCT02092883 Phase 4 ACTH
2 Does Oral Magnesium Substitution Relieve Magnesium Induced Leg Cramps ? Completed NCT00525317 Phase 4 "Nycoplus Magnesium" (120 mg x 3 daily for 2 weeks)
3 Golfer's Cramp: Correlation of Wrist Movements and Surface EMG With Putter Movements Completed NCT02032758 Phase 4 Propranolol
4 Flexeril� (Cyclobenzaprine Hydrochloride) Community Based Study - An Evaluation of Cyclobenzaprine HCl Monotherapy and in Combination With Ibuprofen for Acute Back or Neck Muscle Pain With Muscle Spasm Completed NCT00246389 Phase 4 cyclobenzaprine hydrochloride
5 Mexiletine for the Treatment of Muscle Cramps in ALS Completed NCT01811355 Phase 4 Mexiletine;Placebo
6 Topical Nitroglycerine Treatment for Radial Artery Spasm Prevention Recruiting NCT02832115 Phase 4 Topical Nitroglycerine;Topical Lidocaine
7 Ropinirole for the Treatment of Muscle Cramps in Patients With Cirrhosis Enrolling by invitation NCT03176966 Phase 4 Vitamin E;Ropinirole
8 Magnesium Oxide Monohydrate for Nocturnal Leg Cramps (MgNLC); a Prospective, Randomized, Double Blind, Placebo Controlled Clinical Trial. Terminated NCT01709968 Phase 4 MAGNOX 520®;placebo
9 A Randomized, Double-blinded, Placebo-controlled Study Evaluating the Efficacy and Safety of 6-week Treatment of Pregabalin Against Frequent Muscle Cramp in Patients With Liver Cirrhosis Completed NCT01271660 Phase 3 Pregabalin;Placebo
10 Randomized Crossover Design Trial of Vitamin E vs Placebo for Treatment of Cramps in Amyotrophic Lateral Sclerosis. Completed NCT00372879 Phase 3
11 Evaluation of Eperisone HCl in the Treatment of Acute Musculoskeletal Spasm Associated With Low Back Pain Completed NCT00327730 Phase 3 Eperisone
12 Methocarbamol in Treatment of Muscle Cramps in Cirrhotic Patients Recruiting NCT02642874 Phase 3 Methocarbamol;Calcium Carbonate
13 Phase III Study of L-carnitine vs Placebo for the Treatment of Muscle Cramps After Imatinib in Patients With Gastrointestinal Stromal Tumors (GISTs) (Single-center Study) Recruiting NCT03426722 Phase 3 L-carnitine;Placebo
14 Randomized Study of Orphenadrine` in the Treatment of Muscle Cramps in Patients With Cirrhosis Recruiting NCT02423395 Phase 3 orphenadrine;Placebo
15 Gabapentin in Treatment of Muscle Cramps in Patients With Liver Cirrhosis Not yet recruiting NCT02642484 Phase 3 Gabapentin;Calcium Carbonate
16 Cyclobenzaprine Treatment for Muscle Cramps in Cirrhotic Patients Not yet recruiting NCT02642861 Phase 3 Cyclobenzaprine;Calcium Carbonate
17 Topical Magnesium Supplementation for the Treatment of Muscle Cramps in Dialysis Patients Unknown status NCT03082625 Phase 2 Transdermal Magnesium;Placebo
18 Effect on Tear Functions of Pretarsal and Preseptal Techniques of Botulinum Toxin Type A Injection in Hemifacial Spasm Unknown status NCT01564979 Phase 2 preseptal injection of botulinum toxin type A;pretarsal injection of Botulinum toxin type A
19 Safety and Efficacy of Baclofen for Treatment of Muscle Spasms in Patients With Cirrhosis: A Pilot Study Completed NCT02298868 Phase 2 Baclofen
20 Mexiletine for Muscle Cramps in Charcot Marie Tooth Disease Completed NCT02561702 Phase 2 Mexiletine
21 A Double-blind, Placebo-controlled, Dose-ranging Clinical Study to Evaluate the Safety, Tolerability, and Antiepileptic Activity of Ganaxolone in Treatment of Patients With Infantile Spasms Completed NCT00441896 Phase 2 Ganaxolone
22 Botulinum Toxin for Muscle Cramps in Diabetic Patients With Diabetic Neuropathy Completed NCT03238898 Phase 2 Botulinum toxin type A
23 Open-label Clinical Trial: Safety of Lacosamide in Patients With Amyotrophic Lateral Sclerosis Recruiting NCT03186040 Phase 1, Phase 2 Lacosamide
24 Dose Ranging Study of Tolperisone in Acute Muscle Spasm of the Back Active, not recruiting NCT03802565 Phase 2 Tolperisone;Placebo
25 An Open-label Adaptive Study for the Assessment of Safety, Tolerability, Pharmacokinetics, and Efficacy of Multiple Doses of Radiprodil in Subjects With Drug-resistant Infantile Spasms Terminated NCT02829827 Phase 2 Radiprodil
26 A Randomized, Double-Blind, Controlled, Parallel Group Study to Evaluate the Efficacy and Safety of FLX-787-ODT for Treatment of Muscle Cramps in Adult Subjects With Motor Neuron Disease Terminated NCT03196375 Phase 2 FLX-787-ODT (orally disintegrating tablet);Placebo ODT
27 A Randomized, Double-Blind, Controlled, Parallel Group Study to Evaluate the Efficacy and Safety of FLX-787-ODT for Treatment of Muscle Cramps in Adult Subjects With Charcot-Marie-Tooth Disease Terminated NCT03254199 Phase 2 FLX-787-ODT (orally disintegrating tablet);Placebo ODT
28 Investigating the Etiology of Hemifacial Spasm (HFS): The Role of Desflurane Unknown status NCT01726725 desflurane
29 The Effect of Zinc Supplementation on the Efficacy and Duration of Botulinum Toxin for the Treatment of Oculofacial Spasm Disorders Unknown status NCT01546805 Zinc Supplement;Sugar pill
30 A Randomized Placebo Controlled Study of Baclofen in the Treatment of Muscle Cramps in Patients With Cirrhosis Unknown status NCT02221570 Baclofen
31 Tactile Operant Conditioning To Alleviate Focal Hand Dystonia Symptoms Unknown status NCT00579033
32 Association of Radial Artery Spasm With Development of Radial Arterial Occlusion in Patients Undergoing Diagnostic Angiogram and/or Percutaneous Coronary Intervention (PCI) Via Radial Access Unknown status NCT02577796
33 Beneficial Effects of Magnesium Supplementation On Idiopathic Muscle Cramps Completed NCT00963638
34 A Pilot Study of Hydroxychloroquine for the Treatment of Muscle Cramps in Patients With Cirrhosis Completed NCT01495403 Early Phase 1 Hydroxychloroquine
35 Effectiveness of Duspatalin® (Mebeverine Hydrochloride) 200 mg b.i.d. in Patients With Post-cholecystectomy Gastrointestinal Spasm: a Post Marketing Observational Program in the Russian Federation Completed NCT02260154 Mebeverine
36 Molecular Characterization of a Cohort of 73 Patients With Infantile Spasms Syndrome Completed NCT02885389
37 The Effects of the Myofascial Trigger Point Injections on Pain and Sleep Disturbance in Patients With Nocturnal Leg Cramps With Trigger Points on Gastrocnemius Muscle Completed NCT01804556
38 Magnesium Status & Effect of Magnesium Infusions on Rest Cramps Completed NCT00423540 Intravenous Infusion of Magnesium Sulfate
39 Randomized Placebo-Controlled Crossover Trial With THC (Delta 9-Tetrahydrocannabinol) for the Treatment of Cramps in Amyotrophic Lateral Sclerosis (ALS) Completed NCT00812851 Dronabinol
40 Prevalence, Main Features and Treatment of Nocturnal Leg Cramps in Geneva: A Primary Care Prospective Observational Study Completed NCT02548507
41 An Analysis of the Symptomatic Domains Most Relevant to Charcot Marie Tooth Neuropathy (CMT) Patients Completed NCT02429947
42 Acceptability Study of a New Paediatric Form of Vigabatrin in Infants and Children With Infantile Spasms or Pharmacoresistant Partial Epilepsy. Observational, Descriptive, Open-label, Multi-centric, Non-randomized Study Completed NCT02220114 Vigabatrin: Vigabatrin new ST formulation then Sabril®
43 The Effect of Statins on Skeletal Muscle Function Completed NCT00609063 Atorvastatin;Placebo
44 Evaluating Acupuncture in the Treatment of Low Back Pain in Athletes and the Relationship With the Catecholaminergic Pathway Completed NCT02876432 Diclofenac sodium
45 The Association of Acetylcholine-induced Coronary Artery Spasm With the Blood Pressure Level in Hypertensive Patients Treated With Blood Pressure Lowering Drugs Completed NCT01882790
46 Quick Start Insertion of Mirena and ParaGard Intrauterine Contraceptive Devices Completed NCT01730911
47 The Effect of Theraworx/[pH]Uel on Night-time Leg Cramps and Spasm Symptoms Including Quality of Life, Depression and Sleep Quality Completed NCT03159260
48 Characterization of Manual Dexterity by Finger Force Manipuladum (FFM) in Patients With Writer's Cramp and in Control Subjects Recruiting NCT03797638
49 Does Bilateral Botulinum Toxin A in Patients With Hemifacial Spasm Improve Facial Symmetry Unilateral and Bilateral Injection of Botulinum Toxin A in Patients With Hemifacial Spasm? A Prospective, Randomized, Controlled Study Recruiting NCT03306940 Botulinum Toxin Type A
50 Effectiveness of Extracorporeal Shockwave Therapy on the Patients With Nocturnal Leg Cramps - Possible Related to Myofascial Trigger Point in the Gastrocnemius Muscle Recruiting NCT03864770

Search NIH Clinical Center for Brody Myopathy

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Capsaicin

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, Kidney, Liver, Bone, Testes

Publications for Brody Myopathy

Articles related to Brody Myopathy:

(show all 38)
# Title Authors PMID Year
1
The mutation of Pro789 to Leu reduces the activity of the fast-twitch skeletal muscle sarco(endo)plasmic reticulum Ca2+ ATPase (SERCA1) and is associated with Brody disease. 38 8 71
10914677 2000
2
Characterization of the gene encoding human sarcolipin (SLN), a proteolipid associated with SERCA1: absence of structural mutations in five patients with Brody disease. 38 8 71
9367679 1997
3
Mutations in the gene-encoding SERCA1, the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2+ ATPase, are associated with Brody disease. 38 8 71
8841193 1996
4
Autosomal dominant Brody disease cosegregates with a chromosomal (2;7)(p11.2;p12.1) translocation in an Italian family. 38 8
15083169 2004
5
Characterization of cDNA and genomic DNA encoding SERCA1, the Ca(2+)-ATPase of human fast-twitch skeletal muscle sarcoplasmic reticulum, and its elimination as a candidate gene for Brody disease. 38 8
8825625 1995
6
Ca2+ homeostasis in Brody's disease. A study in skeletal muscle and cultured muscle cells and the effects of dantrolene an verapamil. 8
8040329 1994
7
Exertional rhabdomyolysis in a patient with calcium adenosine triphosphatase deficiency. 8
8331362 1993
8
Ischaemic forearm testing in a patient with Ca(2+)-ATPase deficiency. 8
1405485 1992
9
Ca2+-ATPase deficiency in a patient with an exertional muscle pain syndrome. 8
2976810 1988
10
Sarcoplasmic reticulum adenosine triphosphatase deficiency with probable autosomal dominant inheritance. 8
2966306 1988
11
Myopathy caused by a deficiency of Ca2+-adenosine triphosphatase in sarcoplasmic reticulum (Brody's disease). 8
2943216 1986
12
Muscle contracture induced by exercise. A syndrome attributable to decreased relaxing factor. 8
4239835 1969
13
Brody disease: when myotonia is not myotonia. 38
30996034 2019
14
Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites. 38
30688039 2019
15
Evidence of ER stress and UPR activation in patients with Brody disease and Brody syndrome. 38
28801956 2018
16
Disturbed Ca2+ Homeostasis in Muscle-Wasting Disorders. 38
30390258 2018
17
Structural study of skeletal muscle fibres in healthy and pseudomyotonia affected cattle. 38
27210062 2016
18
[Overactive muscles: it can be more serious than common myalgia or cramp]. 38
27122070 2016
19
Atypical nuclear abnormalities in a patient with Brody disease. 38
26248958 2015
20
Exome analysis identifies Brody myopathy in a family diagnosed with malignant hyperthermia susceptibility. 38
25614869 2014
21
SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers. 38
23911890 2013
22
Brody syndrome: a clinically heterogeneous entity distinct from Brody disease: a review of literature and a cross-sectional clinical study in 17 patients. 38
22704959 2012
23
Analysis of a zebrafish behavioral mutant reveals a dominant mutation in atp2a1/SERCA1. 38
20533403 2010
24
Brody disease: insights into biochemical features of SERCA1 and identification of a novel mutation. 38
20142766 2010
25
Identification of a missense mutation in the bovine ATP2A1 gene in congenital pseudomyotonia of Chianina cattle: an animal model of human Brody disease. 38
18786632 2008
26
SERCA pumps and human diseases. 38
18193643 2007
27
Sarcoplasmic reticulum: the dynamic calcium governor of muscle. 38
16477617 2006
28
accordion, a zebrafish behavioral mutant, has a muscle relaxation defect due to a mutation in the ATPase Ca2+ pump SERCA1. 38
15469975 2004
29
Targeted disruption of the ATP2A1 gene encoding the sarco(endo)plasmic reticulum Ca2+ ATPase isoform 1 (SERCA1) impairs diaphragm function and is lethal in neonatal mice. 38
12556521 2003
30
Physiological functions of plasma membrane and intracellular Ca2+ pumps revealed by analysis of null mutants. 38
12763865 2003
31
Calcium regulation and muscle disease. 38
12363286 2002
32
The role of ion-regulatory membrane proteins of excitation-contraction coupling and relaxation in inherited muscle diseases. 38
11145921 2001
33
Ca2+ signalling and muscle disease. 38
10951187 2000
34
Abnormal intracellular ca(2+)homeostasis and disease. 38
10942700 2000
35
[Intracellular calcium: physiology and physiopathology]. 38
11196578 2000
36
Structure-function relationships in the Ca(2+)-binding and translocation domain of SERCA1: physiological correlates in Brody disease. 38
9789547 1998
37
Excitation-contraction-relaxation cycle: role of Ca2+-regulatory membrane proteins in normal, stimulated and pathological skeletal muscle (review). 38
9852282 1998
38
Structure/function analysis of the Ca2+ binding and translocation domain of SERCA1 and the role in Brody disease of the ATP2A1 gene encoding SERCA1. 38
9405806 1997

Variations for Brody Myopathy

ClinVar genetic disease variations for Brody Myopathy:

6 (show top 50) (show all 152)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 DMD NM_004006.2(DMD): c.1637G> A (p.Trp546Ter) single nucleotide variant Pathogenic rs1057518962 X:32591929-32591929 X:32573812-32573812
2 ATP2A1 NM_004320.5(ATP2A1): c.1740_1741CT[1] (p.Ser581fs) short repeat Pathogenic rs1421005631 16:28909750-28909751 16:28898429-28898430
3 ATP2A1 NC_000016.9: g.(?_28889973)_(28915546_?)del deletion Pathogenic 16:28889973-28915546 16:28878652-28904225
4 ATP2A1 NM_004320.5(ATP2A1): c.2464dup (p.Arg822fs) duplication Pathogenic rs751365374 16:28913647-28913647 16:28902326-28902326
5 ATP2A1 NM_004320.5(ATP2A1): c.909_920delinsACGGCATA (p.Val304fs) indel Pathogenic rs1555515558 16:28899024-28899035 16:28887703-28887714
6 ATP2A1 NM_004320.5(ATP2A1): c.592C> T (p.Arg198Ter) single nucleotide variant Pathogenic rs121918113 16:28898557-28898557 16:28887236-28887236
7 ATP2A1 NM_004320.5(ATP2A1): c.2025C> A (p.Cys675Ter) single nucleotide variant Pathogenic rs121918114 16:28912162-28912162 16:28900841-28900841
8 ATP2A1 ATP2A1, IVS3DS, G-C, -2 single nucleotide variant Pathogenic
9 ATP2A1 ATP2A1, 1-BP DEL, 437C deletion Pathogenic
10 ATP2A1 NM_004320.5(ATP2A1): c.2366C> T (p.Pro789Leu) single nucleotide variant Pathogenic rs121918115 16:28913549-28913549 16:28902228-28902228
11 CYP24A1 NM_000782.5(CYP24A1): c.1186C> T (p.Arg396Trp) single nucleotide variant Pathogenic rs114368325 20:52774675-52774675 20:54158136-54158136
12 ATP2A1 NC_000016.9: g.(?_28835713)_(28915526_?)del deletion Pathogenic 16:28835713-28915526 16:28824392-28904205
13 ATP2A1 NM_004320.5(ATP2A1): c.53_56TGAG[1] (p.Ser19fs) short repeat Pathogenic 16:28890049-28890052 16:28878728-28878731
14 ATP2A1 NM_004320.5(ATP2A1): c.2371C> T (p.Gln791Ter) single nucleotide variant Pathogenic 16:28913554-28913554 16:28902233-28902233
15 ATP2A1 NM_004320.5(ATP2A1): c.1491T> G (p.Tyr497Ter) single nucleotide variant Pathogenic 16:28909392-28909392 16:28898071-28898071
16 ATP2A1 NM_004320.5(ATP2A1): c.2311G> T (p.Glu771Ter) single nucleotide variant Pathogenic 16:28913394-28913394 16:28902073-28902073
17 CLCN1 NM_000083.3(CLCN1): c.950G> A (p.Arg317Gln) single nucleotide variant Pathogenic/Likely pathogenic rs80356702 7:143027961-143027961 7:143330868-143330868
18 ATP2A1 NM_004320.5(ATP2A1): c.2464del (p.Arg822fs) deletion Pathogenic/Likely pathogenic rs751365374 16:28913647-28913647 16:28902326-28902326
19 ATP2A1 NM_004320.5(ATP2A1): c.1184+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs551660089 16:28905565-28905565 16:28894244-28894244
20 ATP2A1 NM_004320.5(ATP2A1): c.2758C> T (p.Gln920Ter) single nucleotide variant Pathogenic/Likely pathogenic rs897301304 16:28914364-28914364 16:28903043-28903043
21 ATP2A1 NM_004320.5(ATP2A1): c.325-2A> T single nucleotide variant Likely pathogenic 16:28893770-28893770 16:28882449-28882449
22 ATP2A1 NM_004320.5(ATP2A1): c.1764_1764+2delinsTGG indel Likely pathogenic 16:28909772-28909774 16:28898451-28898453
23 ATP2A1 NM_004320.5(ATP2A1): c.1329A> G (p.Thr443=) single nucleotide variant Conflicting interpretations of pathogenicity rs376915313 16:28906184-28906184 16:28894863-28894863
24 ATP2A1 NM_004320.5(ATP2A1): c.1560C> T (p.Gly520=) single nucleotide variant Conflicting interpretations of pathogenicity rs138565447 16:28909568-28909568 16:28898247-28898247
25 ATP2A1 NM_004320.5(ATP2A1): c.2536G> A (p.Ala846Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs186012808 16:28913912-28913912 16:28902591-28902591
26 ATP2A1 NM_004320.5(ATP2A1): c.100G> T (p.Glu34Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs141559558 16:28890092-28890092 16:28878771-28878771
27 ATP2A1 NM_004320.5(ATP2A1): c.2595del (p.Asn866fs) deletion Conflicting interpretations of pathogenicity rs398124554 16:28913971-28913971 16:28902650-28902650
28 ATP2A1 NM_004320.5(ATP2A1): c.2774dup (p.Met925fs) duplication Conflicting interpretations of pathogenicity rs398124555 16:28914380-28914380 16:28903059-28903059
29 ATP2A1 NM_004320.5(ATP2A1): c.663C> G (p.Gly221=) single nucleotide variant Conflicting interpretations of pathogenicity rs113803159 16:28898778-28898778 16:28887457-28887457
30 ATP2A1 NM_004320.5(ATP2A1): c.450C> T (p.Ile150=) single nucleotide variant Conflicting interpretations of pathogenicity rs781369773 16:28893897-28893897 16:28882576-28882576
31 ATP2A1 NM_004320.5(ATP2A1): c.1935C> T (p.Asn645=) single nucleotide variant Conflicting interpretations of pathogenicity rs754620899 16:28912072-28912072 16:28900751-28900751
32 ATP2A1 NM_004320.5(ATP2A1): c.2082C> T (p.Tyr694=) single nucleotide variant Uncertain significance rs749931257 16:28912219-28912219 16:28900898-28900898
33 ATP2A1 NM_004320.5(ATP2A1): c.2285G> A (p.Arg762His) single nucleotide variant Uncertain significance rs886051882 16:28913368-28913368 16:28902047-28902047
34 ATP2A1 NM_004320.5(ATP2A1): c.*158_*159del deletion Uncertain significance rs540528794 16:28915621-28915622 16:28904300-28904301
35 ATP2A1 NM_004320.5(ATP2A1): c.*350G> A single nucleotide variant Uncertain significance rs886051885 16:28915813-28915813 16:28904492-28904492
36 ATP2A1 NM_004320.5(ATP2A1): c.675C> T (p.Thr225=) single nucleotide variant Uncertain significance rs753160368 16:28898790-28898790 16:28887469-28887469
37 ATP2A1 NM_004320.5(ATP2A1): c.937G> A (p.Ala313Thr) single nucleotide variant Uncertain significance rs762549353 16:28900116-28900116 16:28888795-28888795
38 ATP2A1 NM_004320.5(ATP2A1): c.2000G> A (p.Arg667Gln) single nucleotide variant Uncertain significance rs141250244 16:28912137-28912137 16:28900816-28900816
39 ATP2A1 NM_004320.5(ATP2A1): c.1400G> A (p.Arg467Lys) single nucleotide variant Uncertain significance rs141453876 16:28906255-28906255 16:28894934-28894934
40 ATP2A1 NM_004320.5(ATP2A1): c.733G> A (p.Asp245Asn) single nucleotide variant Uncertain significance rs150721350 16:28898848-28898848 16:28887527-28887527
41 ATP2A1 NM_004320.5(ATP2A1): c.1294G> A (p.Gly432Ser) single nucleotide variant Uncertain significance rs752021942 16:28906149-28906149 16:28894828-28894828
42 ATP2A1 NM_004320.5(ATP2A1): c.1427G> A (p.Arg476His) single nucleotide variant Uncertain significance rs150068594 16:28909328-28909328 16:28898007-28898007
43 DYNC1H1 NM_001376.5(DYNC1H1): c.13298A> C (p.Asp4433Ala) single nucleotide variant Uncertain significance rs1555412625 14:102514932-102514932 14:102048595-102048595
44 MT-ND6 NC_012920.1: m.14477A> G single nucleotide variant Uncertain significance rs1556424448 MT:14477-14477 MT:14477-14477
45 ATP2A1 NM_004320.5(ATP2A1): c.2752G> A (p.Glu918Lys) single nucleotide variant Uncertain significance rs376101862 16:28914358-28914358 16:28903037-28903037
46 ATP2A1 NC_000016.9: g.(?_28889809)_(28893910_?)dup duplication Uncertain significance 16:28889809-28893910 :0-0
47 ATP2A1 NM_004320.5(ATP2A1): c.1207C> T (p.Arg403Trp) single nucleotide variant Uncertain significance rs117350233 16:28905848-28905848 16:28894527-28894527
48 ATP2A1 NM_004320.5(ATP2A1): c.2776C> T (p.Pro926Ser) single nucleotide variant Uncertain significance rs769822529 16:28914382-28914382 16:28903061-28903061
49 ATP2A1 NM_004320.5(ATP2A1): c.2458C> A (p.Pro820Thr) single nucleotide variant Uncertain significance rs149282970 16:28913641-28913641 16:28902320-28902320
50 ATP2A1 NM_004320.5(ATP2A1): c.1370C> T (p.Thr457Met) single nucleotide variant Uncertain significance rs138880727 16:28906225-28906225 16:28894904-28894904

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

74
# Symbol AA change Variation ID SNP ID
1 ATP2A1 p.Pro789Leu VAR_015588 rs121918115

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 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13 RYR1 CLCN1 ATP2A3 ATP2A2 ATP2A1
2
Show member pathways
12.43 RYR1 ATP2A3 ATP2A2 ATP2A1
3
Show member pathways
12.38 RYR1 DMD ATP2A3 ATP2A2 ATP2A1
4
Show member pathways
12.19 RYR1 ATP2A3 ATP2A2
5
Show member pathways
12.07 ATP2A3 ATP2A2 ATP2A1
6 12.03 ATP2A3 ATP2A2 ATP2A1
7
Show member pathways
11.91 ATP2A3 ATP2A2 ATP2A1
8
Show member pathways
11.85 RYR1 CLCN1 ATP2A3 ATP2A2 ATP2A1
9
Show member pathways
11.75 RYR1 ATP2A3 ATP2A2 ATP2A1
10
Show member pathways
11.68 ATP2A3 ATP2A2 ATP2A1
11 11.55 ATP2A3 ATP2A2 ATP2A1
12 11.28 ATP2A2 ATP2A1
13 11.26 ATP2A3 ATP2A2 ATP2A1
14 9.88 RYR1 ATP2A2 ATP2A1

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 RYR1 DMD CLCN1
2 platelet dense tubular network membrane GO:0031095 9.33 ATP2A3 ATP2A2 ATP2A1
3 calcium channel complex GO:0034704 9.32 RYR1 ATP2A1
4 sarcoplasmic reticulum GO:0016529 9.26 RYR1 ATP2A3 ATP2A2 ATP2A1
5 sarcoplasmic reticulum membrane GO:0033017 8.92 RYR1 ATP2A3 ATP2A2 ATP2A1

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 RYR1 CLCN1 ATP2A3 ATP2A2 ATP2A1
2 proton transmembrane transport GO:1902600 9.63 ATP2A3 ATP2A2 ATP2A1
3 calcium ion transport GO:0006816 9.62 RYR1 ATP2A3 ATP2A2 ATP2A1
4 calcium ion transmembrane transport GO:0070588 9.56 RYR1 ATP2A3 ATP2A2 ATP2A1
5 ATP hydrolysis coupled cation transmembrane transport GO:0099132 9.54 ATP2A3 ATP2A2 ATP2A1
6 response to endoplasmic reticulum stress GO:0034976 9.48 ATP2A2 ATP2A1
7 cellular calcium ion homeostasis GO:0006874 9.46 RYR1 ATP2A3 ATP2A2 ATP2A1
8 positive regulation of endoplasmic reticulum calcium ion concentration GO:0032470 9.4 ATP2A2 ATP2A1
9 ion transmembrane transport GO:0034220 9.35 RYR1 CLCN1 ATP2A3 ATP2A2 ATP2A1
10 regulation of cardiac conduction GO:1903779 8.92 RYR1 ATP2A3 ATP2A2 ATP2A1

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 ATP2A3 ATP2A2 ATP2A1
2 calcium-transporting ATPase activity GO:0005388 8.8 ATP2A3 ATP2A2 ATP2A1

Sources for Brody Myopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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