Genopathy
Gene-Disorder Association · Article
Gene
IDUA
Alpha-L-Iduronidase
Disorder
Disease Of Metabolism
First reported 2002
Key publication · gene–disorder Hurler's syndrome, West's syndrome, and vitamin D-dependent rickets.Journal of child neurology · 2002
Key publication · disorder A system of physiodynamics and its application to the neuroendocrinology of psychiatry; part II of physiodynamics and some major metabolic disorders.Journal of clinical and experimental psychopathology · 1950
Manually curated
Association Review

In brief

The association between IDUA (Alpha-L-Iduronidase) and Disease Of Metabolism is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 1
Compounds 0
Trials 0
Publications 0
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

Request access
02
Provenance

Evidence and sources

1 source

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

Request access
03
IDUA

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

Request access
04
Disease Of Metabolism

The disorder

9 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

Request access
05
Mechanism overlap

Shared mechanisms

1 shared pathway

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

Request access
06
Provenance

References & sources

4 references

Every source and publication cited across this dossier, as one numbered reference list.

Request access