LP71404-5
ACVRL1 gene+ENG gene
Active
Description
The endoglin gene (ENG) and the activin A receptor, type II-like 1 gene (ACVRL1) are most commonly associated with hereditary hemorrhagic telangiectasia (HHT). Mutations in these genes occur in about 80% of individuals with HHT. ENG and ACVRL1 encode for membrane glycoproteins involved in transforming growth factor-beta signaling related to vascular integrity. Mutations in ENG are associated with HHT type 1 (HHT1), a condition with a higher incidence of pulmonary arteriovenous malformations, whereas ACVRL1 mutations occur in HHT type 2 (HHT2), a condition with a higher incidence of hepatic arteriovenous malformations. The majority of mutations in ENG and ACVRL1 are point mutations, which are identified by sequencing with a detection rate of approximately 60% to 80% of mutations involved in HHT. Approximately 10% of ENG and ACVRL1 mutations are large genomic deletions and duplications, which are detectable by methods such as multiplex ligation-dependent probe amplification (MLPA). Copyright Copyright © 1995-2009 Source: Mayo Medical Laboratories
Basic Part Properties
- Part Name
- ACVRL1 gene+ENG gene
- Part Display Name
- ACVRL1 gene+ENG gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2008-10-01
- Construct for LOINC Short Name
- ACVRL1+ENG gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP71404-5
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Gen ACVRL1+Gen ENG |
| it-IT | Italian (Italy) | ACVRL1, gene+ENG, gene Synonyms: Gene ACVRL1+Gene ENG |
| et-EE | Estonian (Estonia) | ACVRL1 geen+ENG geen |
| zh-CN | Chinese (China) | ACVRL1 基因+ENG 基因 |
| tr-TR | Turkish (Turkey) | ACVRL1 geni+ENG geni |
| ru-RU | Russian (Russian Federation) | ACVRL1 ген+ENG ген |
| nl-NL | Dutch (Netherlands) | ACVRL1-gen + ENG-gen Synonyms: ACVRL1 gen+ENG gen |
| el-GR | Greek (Greece) | Γονίδιο ACVRL1+γονίδιο ENG Synonyms: Γονίδιο ACVRL1+γονίδιο ENG |
LOINC Copyright
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