Version 2.78

Part Description

LP268430-8   ITPA gene.g.9330C>A
The ITPA gene on chromosome 20q13 encodes the protein inosine triphosphate pyrophosphatase, which hydrolyzes inosine triphosphate (ITP) and deoxyinosine triphosphate. Variants in the ITPA gene lead to inosine triphosphate pyrophosphatase deficiency (ITPAD),which is characterized by the abnormal accumulation of ITP in erythrocytes. The accumulation of ITP can be beneficial in that it can substitute for guanosine triphosphate (GTP) in a reaction that leads to ATP production. PMID: 28480960 ITPA gene polymorphisms have been associated with anemia in patients with Hepatitis C who are on antiviral therapy with pegylated-interferon (PEG-IFN) and ribivarin (RBV). For rs1127354 (ITPA gene g.9330C>A), patients with the wild type CC genotype were more likely to develop anemia and had faster declines in hemoglobin compared to those with C/A or A/A genotypes. PMID: 26916827 Similarly, patients with the wild type AA genotype at rs7270101 (ITPA gene g.9381A>C) were more likely to experience a drop in hemoglobin compared to those with the A/C or C/C genotypes. PMID: 23933495 Source: Regenstrief LOINC

Fully-Specified Name

Component
ITPA gene.g.9330C>A
Property
Type
Time
Pt
System
Ser/Plas
Scale
Nom
Method
Molgen

Additional Names

Short Name
ITPA g.9330C>A SerPl
Display Name
ITPA g.9330C>A Molgen Nom
Consumer Name Alpha Get Info
ITPA g.9330C>A, Blood

Example Answer List: LL3026-3

Source: Regenstrief LOINC
Answer Code Score Answer ID
C/C (wild type) LA13521-2
C/A (heterozygous) LA21510-5
A/A (homozygous) LA19934-1

Basic Attributes

Class
MOLPATH.PHARMG
Type
Laboratory
First Released
Version 2.65
Last Updated
Version 2.65
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Gen ITPA g.9330C> A:Tipo:Punto temporal:Suero o Plasma:Nominal:Genética molecular
es-ES Spanish (Spain) g.9330C>A del gen ITPA:Tipo:Punto temporal:Suero o Plasma:Nom:Genética molecular
fr-FR French (France) ITPA gène g.9330C>A:Type:Ponctuel:Sérum/Plasma:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) ITPA, gene.g.9330C>A:Tipo:Pt:Siero/Plasma:Nom:Molgen
Synonyms: Farmacogenomica Gene ITPA.g.9330C>A Genetica molecolare Patologia molecolare Plasma Punto nel tempo (episodio) Siero Siero o Plasma
zh-CN Chinese (China) ITPA 基因.g.9330C>A:类型:时间点:血清/血浆:名义型:分子遗传学类实验室方法
Synonyms: A 型 G 型 三磷酸肌苷焦磷酸酶;Inosine triphosphate pyrophosphatase;ITPA;C20orf37;HLC14-06-P;dJ794I6.3;My049;ITPase;NTPase 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 型 时刻;随机;随意;瞬间 血清或血浆 遗传基因;遗传因子;吉恩;生物基因

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=91137-0