LP17187-3
Alpha 1 antitrypsin phenotype
Active
Description
Alpha-1 antitrypsin deficiency is a relatively common autosomal recessive condition. The most common deficiency alleles in the alpha-1-antitrypsin gene on the protease inhibitor locus are PI*Z and PI*S. The normal allele is PI*M. Patients homozygous for PI*Z or PI*S or heterozygous PI*Z/PI*S will have decreased alpha-1-antitrypsin levels, with PI*Z/PI*Z having lowest levels of 10-20% of normal. Patients with PI*Z/PI*Z or PI*S/PI*Z genotypes reportedly have increased risk of childhood liver disease and chronic obstructive pulmonary disease(COPD) and emphysema in adult life. PI*M/PI*Z patients may have decreased pulmonary function and increased risk for COPD, especially smokers. Source: Regenstrief Institute
Basic Part Properties
- Part Name
- Alpha 1 antitrypsin phenotype
- Part Display Name
- Alpha 1 antitrypsin phenotype
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2000-05-04
- Construct for LOINC Short Name
- A1AT Phenotyp
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | Alpha 1 抗胰蛋白酶表现型 Synonyms: Alpha 1 抗胰蛋白酶（α1-抗胰蛋白酶、 |
| fr-CA | French (Canada) | Phénotype de l'alpha 1 antitrypsine |
| et-EE | Estonian (Estonia) | Alfa-1-antitrüpsiini fenotüpiseerimine |
| es-ES | Spanish (Spain) | Fenotipo Alfa 1 antitripsina |
| it-IT | Italian (Italy) | Alfa 1 antitripsina, fenotipo Synonyms: Fenotipo dell''alfa 1 antitripsina |
| tr-TR | Turkish (Turkey) | Alfa 1 antitripsin fenotipleme |
| ru-RU | Russian (Russian Federation) | Альфа 1 антитрипсин фенотипирование |
| nl-NL | Dutch (Netherlands) | alfa-1-antitrypsine fenotype |
| fr-BE | French (Belgium) | Phénotypage de l'alpha-1-antitrypsine |
| fr-FR | French (France) | Alpha-1-antitrypsine phénotype |
| pl-PL | Polish (Poland) | Alfa 1 antytrypsyna fenotyp Synonyms: Fenotyp alfa1-antytrypsyny; |
| el-GR | Greek (Greece) | Φαινότυπος Α1-αντιθρυψίνης Synonyms: Φαινότυπος Α1-αντιθρυψίνης |
LOINC Copyright
Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://