MCID: BRD001
MIFTS: 26

Brody Myopathy malady

Genetic diseases, Rare diseases, Neuronal diseases categories

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). 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:65 Brody myopathy is a genetic disease. more...

Description from OMIM:47 601003

Aliases & Classifications for Brody Myopathy

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Sources:
47OMIM, 10Disease Ontology, 11diseasecard, 43NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 49Orphanet, 24GTR, 62UMLS, 36MESH via Orphanet, 28ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Brody Myopathy, Aliases & Descriptions:

Name: Brody Myopathy 47 10 11 43 22 23 49 24 62
Brody Disease 43 23 62
 
Sarcoplasmic Reticulum -Ca2+atpase Deficiency 43


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

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


External Ids:

OMIM47 601003
Disease Ontology10 DOID:0050692
Orphanet49 53347
MESH via Orphanet36 C536607
ICD10 via Orphanet28 G71.8
UMLS via Orphanet63 C1832918

Related Diseases for Brody Myopathy

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

idRelated DiseaseScoreTop Affiliating Genes
1malignant hyperthermia10.2
2myopathy10.2
3malignant hyperthermia susceptibility10.2
4pseudomyotonia10.1

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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Drug clinical trials:

Search ClinicalTrials for Brody Myopathy

Search NIH Clinical Center for Brody Myopathy

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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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:

64
id Symbol AA change Variation ID SNP ID
1ATP2A1p.Pro789LeuVAR_015588

Clinvar genetic disease variations for Brody Myopathy:

7
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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Compounds for genes affiliated with Brody Myopathy

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GO Terms for genes affiliated with Brody Myopathy

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Products for genes affiliated with Brody Myopathy

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Brody Myopathy

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet