Version 2.77

Term Description

Niemann-Pick Disease is a disorder caused by a deficiency in the enzyme, acid sphingomyelinase.
Source: Regenstrief LOINC

Part Description

LP30751-9   SMPD1 gene
The SMPD1 gene (sphingomyelin phosphodiesterase 1, acid lysosomal) [HGNC Gene ID:11120] is located on chromosome 11p15.4-p15.1. The protein encoded by this gene is a lysosomal acid sphingomyelinase that converts sphingomyelin to ceramide. The encoded protein also has phospholipase C activity. Defects in this gene are a cause of Niemann-Pick disease type A (NPA) and Niemann-Pick disease type B (NPB). Multiple transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2010] [NCBI Gene ID:6609] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component
SMPD1 gene targeted mutation analysis
Property
Prid
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
SMPD1 gene Mut Anl Bld/T
Display Name
SMPD1 gene targeted mutation analysis Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
SMPD1 gene targeted mutation analysis, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.09
Last Updated
Version 2.73
Change Reason
Based on LOINC Committee review (June 2016), "targeted" was added to the Component to clarify that this test is looking for a specific set of mutations as described in the LOINC User Guide under the Molecular Genetics section.
Order vs. Observation
Both
Common Test Rank Get Info
9402

Language Variants Get Info

Tag Language Translation
es-AR Spanish (Argentina) análisis de mutación del gen NPDA:presencia o identidad:punto en el tiempo:sangre entera/tejido:Nominal:genética molecular
es-ES Spanish (Spain) Gen SMPD1 Analisis de mutaciones:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) Análisis de mutaciones dirigidas al gen SMPD1:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR French (France) SMPD1 gène mutation cible trouvée:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) SMPD1, gene analisi di mutazione mirata:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Gene SMPD1 Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
ko-KR Korean (Korea, Republic Of) SMPD1 유전자 돌연변이 분석:존재:검사시점:전혈/조직:명칭결과:분자유전
nl-NL Dutch (Netherlands) SMPD1-gen doelgerichte mutatie-analyse:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen SMPD1 gen targeted
pt-BR Portuguese (Brazil) SMPD1 análise de mutação genética:Ident:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: ASM gene deficiency; Nieman-Pick Disease Type A; Niemann-Pick Disease Type A; Niemann-Pick A and B disease gene; NPDA; NPDB; Niemann-Pick Disease Type B; Identity or presence; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Mut Anal; Mutations; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU Russian (Russian Federation) SMPD1 ген исследование на мутацию:ПрИд:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Кровь Кровь или Ткань Номинальный;Именной Присутствие или Идентификация Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) SMPD1 geni Mutasyon analizi:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
uk-UA Ukrainian (Ukraine) Аналіз мутацій гену SMPD1:Наявність або Ідентифікація:МоментЧасу:Кров/Тканини:Категорійно:Молекулярна генетика
Synonyms: ASM; ASM gene deficiency; ASMASE; Blood; Genetics; Heredity; Heritable; Identity or presence; Inherited; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mut Anl; Mutations; Niemann-Pick A and B disease gene; Niemann-Pick Disease Type A; Niemann-Pick Disease Type B; Nieman-Pick Disease Type A; Nominal; NPD; NPDA; NPDB; PCR; Point in time; Random; sphingomyelin phosphodiesterase 1, acid lysosomal; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue
zh-CN Chinese (China) SMPD1 基因 突变分析:存在与否或特征标识:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: ASM 基因缺陷;Nieman-Pick 病 A 与 B 型基因;Nieman-Pick 病 A 型;Nieman-Pick 病 B 型;NPDA;NPDB;尼曼-匹克病 A 与 B 型基因;尼曼-匹克病 A 型;尼曼-匹克病 B 型;尼曼-皮克病 A 与 B 型基因;尼曼-皮克病 A 型;尼曼-皮克病 B 型 全血或组织;血液/组织;血液或组织 分子病理学.基因突变;分子病理学.突变;分子病理学试验.基因突变;分子病理学试验.突变;分子病理学试验类.突变;基因突变;突变 分子病理学;分子病理学试验 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内，用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 基因突变分析 存在;存在与否;特征标识;身份;身份标识 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 血;血液 遗传基因;遗传因子;吉恩;生物基因

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