MCID: BRD001
MIFTS: 17

Brody Myopathy malady

Neuronal category

Summaries for Brody Myopathy

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 33MalaCards
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Genetics Home Reference:21 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: Brody Myopathy, also known as brody disease, is related to autosomal dominant disease and pseudomyotonia. An important gene associated with Brody Myopathy is ATP2A1 (ATPase, Ca++ transporting, cardiac muscle, fast twitch 1). Affiliated tissues include skeletal muscle.

NIH Rare Diseases:43 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

Wikipedia:64 Brody myopathy is a genetic disease. more...

Description from OMIM:47 601003

Aliases & Classifications for Brody Myopathy

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 49Orphanet, 61UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal


Characteristics (Orphanet epidemiological data):

49
brody myopathy:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Adulthood


Aliases & Descriptions:

brody myopathy 8 9 43 20 22 21 47 49 61
brody disease 43 21
sarcoplasmic reticulum -ca2+atpase deficiency 43


External Ids:

Disease Ontology8 DOID:0050692
OMIM47 601003
MESH via Orphanet36 C536607
ICD10 via Orphanet26 G71.8
UMLS via Orphanet62 C1832918

Related Diseases for Brody Myopathy

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Brody Myopathy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1autosomal dominant disease10.1
2pseudomyotonia10.1

Clinical Features for Brody Myopathy

Sources:
47OMIM
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Clinical features from OMIM:

601003

Clinical synopsis from OMIM:

601003

Drugs & Therapeutics for Brody Myopathy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Brody Myopathy

Drug clinical trials:

Search ClinicalTrials for Brody Myopathy

Search NIH Clinical Center for Brody Myopathy

Search CenterWatch for Brody Myopathy

Genetic Tests for Brody Myopathy

Sources:
20GeneTests, 22GTR
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Genetic tests related to Brody Myopathy:

id Genetic test Affiliating Genes
1 Brody Myopathy20 22 ATP2A1

Anatomical Context for Brody Myopathy

Sources:
33MalaCards
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MalaCards organs/tissues related to Brody Myopathy:

33
Skeletal muscle

Animal Models for Brody Myopathy or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Brody Myopathy

Genetic Variations for Brody Myopathy

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Brody Myopathy:

63
id Symbol AA change Variation SNP ID
1ATP2A1p.Pro789LeuVAR_015588

Expression for genes affiliated with Brody Myopathy

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Brody Myopathy

Search GEO for disease gene expression data for Brody Myopathy.

Pathways for genes affiliated with Brody Myopathy

Compounds for genes affiliated with Brody Myopathy

GO Terms for genes affiliated with Brody Myopathy

Products for genes affiliated with Brody Myopathy

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Brody Myopathy

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet