Version 2.80

Description

Succinate dehydrogenase (SDH) is a mitochondrial enzyme complex made up of 4 subunits: subunit A (SDHA), subunit B (SDHB), subunit C (SDHC), and subunit D (SDHD). Mutations in the SDHB, SDHC, or SDHD genes are associated with pheochromocytoma (PHEO) and paraganglioma (PGL) syndromes. PMID: 17102077 To date, mutations in SDHA have not been associated with PHEO or PGL syndromes. Patients with a heterozygous mutation have only one functioning copy of the affected SDH subunit gene. When the second copy is somatically lost or mutated, tumors develop in tissues. Germline mutations in the SDHB, SDHC, and SDHD genes have been found in the majority of familial head and neck paraganglioma (HNPs) as well as in sporadic cases. PMID: 17102086 Source: Regenstrief LOINC

Basic Part Properties

Part Name
SDHB & SDHC & SDHD gene
Part Display Name
SDHB and SDHC and SDHD gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2016-03-23
Construct for LOINC Short Name
SDHB+SDHC+SDHD

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP208546-4

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen SDHB+SDHC+SDHD
zh-CN Chinese (China) SDHB 与 SDHC 与 SDHD 基因
Synonyms: SDHB & SDHC & SDHD 基因
nl-NL Dutch (Netherlands) SDHB & SDHC & SDHD-gen
Synonyms: SDHB & SDHC & SDHD gen
it-IT Italian (Italy) SDHB & SDHC & SDHD, gene
Synonyms: Gene SDHB e SDHC e SDHD
el-GR Greek (Greece) Γονίδιο SDHB & SDHC & SDHD
Synonyms: Γονίδιο SDHB & SDHC & SDHD