MCID: BRD001
MIFTS: 34

Brody Myopathy malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Aliases & Classifications for Brody Myopathy

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 67UniProtKB/Swiss-Prot, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH
See all sources

Aliases & Descriptions for Brody Myopathy:

Name: Brody Myopathy 49 10 11 45 22 23 12 51 24 65 67
Brody Disease 45 23 67
 
Sarcoplasmic Reticulum -Ca2+atpase Deficiency 45
Brm 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
brody myopathy:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Adult


External Ids:

OMIM49 601003
Disease Ontology10 DOID:0050692
Orphanet51 53347
ICD10 via Orphanet28 G71.8
MESH via Orphanet37 C536607
UMLS via Orphanet66 C1832918
MedGen34 C1832918
MeSH36 D009120

Summaries for Brody Myopathy

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Genetics Home Reference:23 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).

MalaCards based summary: Brody Myopathy, also known as brody disease, is related to malignant hyperthermia and myopathy, and has symptoms including autosomal recessive inheritanceand muscle cramps. An important gene associated with Brody Myopathy is ATP2A1 (ATPase, Ca++ Transporting, Cardiac Muscle, Fast Twitch 1), and among its related pathways are Antiarrhythmic Pathway, Pharmacodynamics and Translational Control. Affiliated tissues include skeletal muscle, and related mouse phenotype muscle.

NIH Rare Diseases:45 Brody disease is a type of myopahty or "disease of muscle." signs and symptoms include difficulty relaxing muscles and muscle stiffness following exercise. the condition tends to be inherited in an autosomal recessive fashion. some cases of brody disease are caused by mutations in a gene called “atp2a1,” for other cases the underlying genetic defect has not been identified. last updated: 3/20/2009

UniProtKB/Swiss-Prot:67 Brody myopathy: A disorder of muscle function that is characterized by painless muscle cramping and exercise-induced impairment of muscle relaxation.

Wikipedia:68 Brody myopathy is a genetic disease. more...

Description from OMIM:49 601003

Related Diseases for Brody Myopathy

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



Diseases related to brody myopathy

Symptoms for Brody Myopathy

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Symptoms by clinical synopsis from OMIM:

601003

Clinical features from OMIM:

601003

HPO human phenotypes related to Brody Myopathy:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 muscle cramps HP:0003394

Drugs & Therapeutics for Brody Myopathy

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
R4733Phase 335502-85-25360545
Synonyms:
4-Hydroxybuttersaeure natriumsalz
4-Hydroxybutyrate sodium
4-Hydroxybutyric acid monosodium salt
4-Hydroxybutyric acid sodium salt
502-85-2
ARONIS24196
Anetamin
BUTYRIC ACID, 4-HYDROXY-, SODIUM SALT
Butanoic acid, 4-hydroxy-, monosodium salt
Butanoic acid, 4-hydroxy-, sodium salt
Butanoic acid, 4-hydroxy-, sodium salt (1:1)
Butyric acid, 4-hydroxy-, monosodium salt
Butyric acid, 4-hydroxy-, monosodium salt (8CI)
C4H7O3.Na
CHEMBL1200682
CID10412
D05866
EB 27
EINECS 207-953-3
GHB
Gamma OH
H-4040
H3635_SIGMA
HMS2091E15
Hydroxybutyric acid monosodium salt
 
LS-48077
MolPort-001-766-711
MolPort-006-717-541
NSC 84223
Natrium 4-hydroxybutyrat
OR28769
Oxybate sodium
Sodium 4-hydroxybutyrate
Sodium Oxybate [USAN]
Sodium Oxybutyrate
Sodium gamma-hydroxybutyrate
Sodium gammahydroxybutyrate
Sodium oxybate
Sodium oxybate (USAN)
Sodium-4-hydroxybutyrate
Somsanit
UNII-7G33012534
WY 3478
WY-3478
Xyrem
Xyrem (TN)
gamma-Hydroxy sodium butyrate
gamma-Hydroxybutyrate sodium
gamma-Hydroxybutyrate sodium salt
gamma-Hydroxybutyric acid sodium salt
gamma-Hydroxybutyric acid, sodium salt

Interventional clinical trials:

idNameStatusNCT IDPhase
1A Safety and Efficacy Study of Xyrem® (Sodium Oxybate) to Treat Fibromyalgia.CompletedNCT00423813Phase 3

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Genetic Tests for Brody Myopathy

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Genetic tests related to Brody Myopathy:

id Genetic test Affiliating Genes
1 Brody Myopathy22 24 ATP2A1

Anatomical Context for Brody Myopathy

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MalaCards organs/tissues related to Brody Myopathy:

33
Skeletal muscle

Animal Models for Brody Myopathy or affiliated genes

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MGI Mouse Phenotypes related to Brody Myopathy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.5ATP2A1, ATP2A2, ATP2A3

Publications for Brody Myopathy

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Articles related to Brody Myopathy:

idTitleAuthorsYear
1
Exome analysis identifies Brody myopathy in a family diagnosed with malignant hyperthermia susceptibility. (25614869)
2014

Variations for Brody Myopathy

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

67
id Symbol AA change Variation ID SNP ID
1ATP2A1p.Pro789LeuVAR_015588

Clinvar genetic disease variations for Brody Myopathy:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ATP2A1NM_004320.4(ATP2A1): c.592C> T (p.Arg198Ter)single nucleotide variantPathogenicrs121918113GRCh37Chr 16, 28898557: 28898557
2ATP2A1NM_004320.4(ATP2A1): c.2025C> A (p.Cys675Ter)single nucleotide variantPathogenicrs121918114GRCh37Chr 16, 28912162: 28912162
3ATP2A1ATP2A1, IVS3DS, G-C, -2single nucleotide variantPathogenic
4ATP2A1ATP2A1, 1-BP DEL, 437CdeletionPathogenic
5ATP2A1NM_004320.4(ATP2A1): c.2366C> T (p.Pro789Leu)single nucleotide variantPathogenicrs121918115GRCh37Chr 16, 28913549: 28913549

Expression for genes affiliated with Brody Myopathy

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Search GEO for disease gene expression data for Brody Myopathy.

Pathways for genes affiliated with Brody Myopathy

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

(show all 19)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1ATP2A1, ATP2A2
29.1ATP2A1, ATP2A2
39.1ATP2A1, ATP2A2
4
Show member pathways
8.5ATP2A1, ATP2A2, ATP2A3
5
Show member pathways
8.5ATP2A1, ATP2A2, ATP2A3
6
Show member pathways
8.5ATP2A1, ATP2A2, ATP2A3
7
Show member pathways
8.5ATP2A1, ATP2A2, ATP2A3
8
Show member pathways
8.5ATP2A1, ATP2A2, ATP2A3
9
Show member pathways
8.5ATP2A1, ATP2A2, ATP2A3
10
Show member pathways
8.5ATP2A1, ATP2A2, ATP2A3
11
Show member pathways
8.5ATP2A1, ATP2A2, ATP2A3
12
Show member pathways
8.5ATP2A1, ATP2A2, ATP2A3
138.5ATP2A1, ATP2A2, ATP2A3
148.5ATP2A1, ATP2A2, ATP2A3
158.5ATP2A1, ATP2A2, ATP2A3
16
Show member pathways
8.5ATP2A1, ATP2A2, ATP2A3
17
Show member pathways
8.5ATP2A1, ATP2A2, ATP2A3
188.5ATP2A1, ATP2A2, ATP2A3
198.5ATP2A1, ATP2A2, ATP2A3

GO Terms for genes affiliated with Brody Myopathy

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Cellular components related to Brody Myopathy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1platelet dense tubular network membraneGO:00310959.0ATP2A1, ATP2A2, ATP2A3
2sarcoplasmic reticulum membraneGO:00330179.0ATP2A1, ATP2A2, ATP2A3
3sarcoplasmic reticulumGO:00165298.9ATP2A1, ATP2A2, ATP2A3
4endoplasmic reticulum membraneGO:00057898.5ATP2A1, ATP2A2, ATP2A3

Biological processes related to Brody Myopathy according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of endoplasmic reticulum calcium ion concentrationGO:00324709.8ATP2A1, ATP2A2
2response to endoplasmic reticulum stressGO:00349769.4ATP2A1, ATP2A2
3cellular calcium ion homeostasisGO:00068749.3ATP2A2, ATP2A3
4ion transmembrane transportGO:00342209.0ATP2A1, ATP2A2, ATP2A3
5calcium ion transportGO:00068168.9ATP2A1, ATP2A2, ATP2A3
6transmembrane transportGO:00550858.9ATP2A1, ATP2A2, ATP2A3
7calcium ion transmembrane transportGO:00705888.8ATP2A1, ATP2A2, ATP2A3
8blood coagulationGO:00075968.5ATP2A1, ATP2A2, ATP2A3
9metabolic processGO:00081528.1ATP2A1, ATP2A2, ATP2A3, DNAH8

Molecular functions related to Brody Myopathy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1calcium-transporting ATPase activityGO:00053889.0ATP2A1, ATP2A2, ATP2A3
2nucleotide bindingGO:00001668.8ATP2A1, ATP2A2, ATP2A3
3ATP bindingGO:00055248.0ATP2A1, ATP2A2, ATP2A3, DNAH8

Sources for Brody Myopathy

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet