Version 2.80

Descriptions

The IDUA gene, located on chromosome 4p16.3, encodes alpha-L-iduronidase, a lysosomal enzyme that hydrolyzes the terminal alpha-L-iduronic acid residues of two glycosaminoglycans, dermatan sulfate and heparan sulfate. Mutations in the IDUA gene lead to alpha-L-iduronidase deficiency, which is associated with mucopolysaccharidosis type I (MPSI). MPSI has 3 forms: IH (Hurler syndrome), IH/S (Hurler-Scheie syndrome), and IS (Scheie syndrome). Hurler syndrome is the most severe form of MPSI, is usually diagnosed in the first year of life, and is characterized by hepatosplenomegaly, corneal clouding, and severe cognitive delay. Patients with Hurler syndrome typically die before the age of 10. In contrast, Hurler-Scheie and Scheie syndromes are usually diagnosed later in childhood or adulthood and have little, if any, cognitive delay. [UniProt: P35475] Source: Regenstrief LOINC , UniProt: P35475

The IDUA gene (iduronidase, alpha-L-) [HGNC Gene ID:5391] is located on chromosome 4p16.3. This gene encodes an enzyme that hydrolyzes the terminal alpha-L-iduronic acid residues of two glycosaminoglycans, dermatan sulfate and heparan sulfate. This hydrolysis is required for the lysosomal degradation of these glycosaminoglycans. Mutations in this gene that result in enzymatic deficiency lead to the autosomal recessive disease mucopolysaccharidosis type I (MPS I). [provided by RefSeq, Jul 2008] [NCBI Gene ID:3425] Source: National Center for Biotechnology Information (NCBI) Gene

Reference Information

Type Source Reference
Webcontent Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. Link to OMIM

Basic Part Properties

Part Name
IDUA gene
Part Display Name
IDUA gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2009-11-18
Construct for LOINC Short Name
IDUA gene

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP97942-4
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP97942-4

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen IDUA
it-IT Italian (Italy) IDUA, gene
Synonyms: Gene IDUA
et-EE Estonian (Estonia) IDUA geen
zh-CN Chinese (China) IDUA 基因
Synonyms: IDA;MPS1;alpha-L-iduronidase;iduronidase, alpha-L-;alpha-L-艾杜糖苷酶;艾杜糖苷酶, alpha-L-;alpha-L-艾杜糖醛酸酶;艾杜糖醛酸酶, alpha-L-;α-L-艾杜糖苷酶;艾杜糖苷酶, α-L-;α-L-艾杜糖醛酸酶;艾杜糖醛酸酶, α-L-
tr-TR Turkish (Turkey) IDUA geni
ru-RU Russian (Russian Federation) IDUA ген
nl-NL Dutch (Netherlands) IDUA-gen
Synonyms: IDUA gen
el-GR Greek (Greece) Γονίδιο IDUA
Synonyms: Γονίδιο IDUA