96965-9
CARD11 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Active
Part Description
LP422604-1 CARD11 gene
The CARD11 gene, located on chromosome 7, encodes the caspase recruitment domain family member 11 protein, which is involved in the development and function of T and B cells. CARD11 mutations are associated with a variety of disorders, including atopic dermatitis and other allergic conditions including asthma and environmental allergies, other immune disorders, and Omenn syndrome. Immune disorders associated with CARD11 include specific types of severe combined immunodeficiency (SCID) and B-cell expansion with NF-κB and T-cell anergy (BENTA). CARD11 mutations are also associated with diffuse large B-cell lymphoma and adult T-cell leukemias and lymphomas. [MedlinePlus Gene: CARD11]
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- CARD11 gene targeted mutation analysis
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- CARD11 Mut Anl Bld/T
- Display Name
- CARD11 gene targeted mutation analysis Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- CARD11 gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.70
- Last Updated
- Version 2.70
- Order vs. Observation
- Both
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-ES | Spanish (Spain) | Gen CARD11 Analisis de mutaciones: |
es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen CARD11: |
fr-FR | French (France) | CARD11 gène mutation cible trouvée: |
it-IT | Italian (Italy) | CARD11, gene Gene CARD11 analisi di mutazione mirata: Synonyms: Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
nl-NL | Dutch (Netherlands) | CARD11-gen doelgerichte mutatie-analyse: Synonyms: molgen targeted |
zh-CN | Chinese (China) | CARD11 基因 突变分析: Synonyms: Caspase Recruitment Domain Family Member 11 gene; |
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