LP172693-6
RAI1 gene 17p11.2
Active
Description
The retinoic acid induced 1 (RAI1) gene, located in the 17p11.2 region, is the causative gene for Smith-Magenis syndrome (SMS) and Potocki-Lupski syndrome (PTLS). SMS and PTLS are characterized by multiple congenital anomalies and mental retardation resulting from either a deletion (SMS) or duplication (PTLS) of the 17p11.2 chromosome region. The disorders are diagnosed using a combination of clinically recognized phenotypes and molecular cytogenetic analyses, including fluorescent in situ hybridization (FISH). Clinically, PTLS presents as a milder syndrome than SMS. Source: Regenstrief LOINC , PMID: 18373405
Basic Part Properties
- Part Name
- RAI1 gene 17p11.2
- Part Display Name
- RAI1 gene 17p11.2
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2013-02-21
- Construct for LOINC Short Name
- RAI1 17p11.2
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=LP172693-6
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Gen RAI1 17p11.2 |
| ru-RU | Russian (Russian Federation) | RAI1 ген 17p11.2 |
| zh-CN | Chinese (China) | RAI1 基因 17p11.2 |
| it-IT | Italian (Italy) | RAI1, gene 17p11.2 Synonyms: Gene RAI1 17p11.2 |
| tr-TR | Turkish (Turkey) | RAI1 geni 17p11.2 |
| nl-NL | Dutch (Netherlands) | RAI1-gen 17p11.2 Synonyms: RAI1 gen 17p11.2 |
| el-GR | Greek (Greece) | Γονίδιο RAI1 17p11.2 Synonyms: Γονίδιο RAI1 17p11.2 |
LOINC Copyright
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