MCID: BRD001
MIFTS: 20

Brody Myopathy malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Summaries for Brody Myopathy

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Sources:
22Genetics Home Reference, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
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Genetics Home Reference:22 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 pseudomyotonia. An important gene associated with Brody Myopathy is ATP2A1 (ATPase, Ca++ transporting, cardiac muscle, fast twitch 1).

NIH Rare Diseases:44 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:66 Brody myopathy is a genetic disease. more...

Description from OMIM:48 601003

Aliases & Classifications for Brody Myopathy

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Sources:
9Disease Ontology, 10diseasecard, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 50Orphanet, 63UMLS, 37MESH via Orphanet, 27ICD10 via Orphanet, 64UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
brody myopathy:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Adulthood


Aliases & Descriptions:

brody myopathy 9 10 44 21 23 22 48 50 63
brody disease 44 22
sarcoplasmic reticulum -ca2+atpase deficiency 44


External Ids:

Disease Ontology9 DOID:0050692
OMIM48 601003
MESH via Orphanet37 C536607
ICD10 via Orphanet27 G71.8
UMLS via Orphanet64 C1832918

Related Diseases for Brody Myopathy

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Sources:
18GeneCards, 19GeneDecks
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Diseases related to Brody Myopathy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1pseudomyotonia10.1

Symptoms for Brody Myopathy

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48OMIM
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Symptoms by clinical synopsis from OMIM:

601003

Clinical features from OMIM:

601003

Drugs & Therapeutics for Brody Myopathy

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Brody Myopathy

Genetic Tests for Brody Myopathy

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21GeneTests, 23GTR
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Genetic tests related to Brody Myopathy:

id Genetic test Affiliating Genes
1 Brody Myopathy21 23 ATP2A1

Anatomical Context for Brody Myopathy

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Animal Models for Brody Myopathy or affiliated genes

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Publications for Brody Myopathy

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Variations for Brody Myopathy

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Brody Myopathy:

65
id Symbol AA change Variation ID SNP ID
1ATP2A1p.Pro789LeuVAR_015588

Clinvar genetic disease variations for Brody Myopathy:

1
id Gene Name 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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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Brody Myopathy

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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

Sources for Brody Myopathy

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet