LP101433-3
Hypertrophic cardiomyopathy gene
Active
Description
Hypertrophic cardiomyopathy (HCM) is a relatively common genetic cardiac disease (~0.2% of the general population) defined by the presence of unexplained left ventricular hypertrophy (LVH). The clinical spectrum of HCM is heterogeneous with respect to disease-causing mutations, presentation, prognosis, and treatment strategies. PMID: 11886323 HCM is most commonly caused by mutations in one of the genes (e.g. MYH7, MYBPC3, TNNT2, TNNI3, TPM1) that encode different components of the sarcomere. Such mutations are found in approximately 50%-60% individuals with a family history of HCM, and approximately 20%-30% of individuals without a family history of HCM. PMID: 22068435 Other nonsarcomeric genes, such as CSRP3 (encoding muscle LIM protein), are also found to be associated with HCM by genome-wide linkage studies. PMID: 18505755 A variety of multi-gene analysis panels are available for HCM. The genes included and corresponding detection rate will vary between laboratories and over time within the same laboratory.[NCBI Books: NBK1768] Source: Regenstrief LOINC
Basic Part Properties
- Part Name
- Hypertrophic cardiomyopathy gene
- Part Display Name
- Hypertrophic cardiomyopathy gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2010-08-02
- Construct for LOINC Short Name
- HCM
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- CodeSystem lookup
- https:
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Gen HCM |
| et-EE | Estonian (Estonia) | HCM geen |
| it-IT | Italian (Italy) | Cardiomiopatia ipertrofica, gene Synonyms: Gene della cardiomiopatia ipertrofica |
| zh-CN | Chinese (China) | HCM 基因 Synonyms: 家族性肥厚型心肌病; |
| tr-TR | Turkish (Turkey) | HCM geni |
| ru-RU | Russian (Russian Federation) | HCM ген |
| nl-NL | Dutch (Netherlands) | HCM-gen Synonyms: HCM gen |
| el-GR | Greek (Greece) | Γονίδιο υπερτροφικής μυοκαρδιοπάθειας Synonyms: Γονίδιο υπερτροφικής μυοκαρδιοπάθειας |
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