IDUA

alpha-L-iduronidase

3 disorders 2 causative 1 untyped 4p16.3 gene with protein product

HGNC:5391 Monarch NCBI Gene 3425 ENSG00000127415 UniProt P35475 OMIM 252800

Aliases: MPS1, MPSI.

Normal function · from ai-gene-review (P35475, commit 79fe13b38970) · AI-generated, not KB evidence

ai-gene-review has this gene at status INITIALIZED; the description is shown only once the review is complete. Read the draft upstream.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Attenuated Mucopolysaccharidosis Type I	causative germline	mechanism: Biallelic IDUA Pathogenic Variants; Reduced Alpha-L-Iduronidase Activity subtype: Hurler-Scheie; Scheie
Mucopolysaccharidosis	causative germline	mechanism: Lysosomal GAG Accumulation
Hurler syndrome	untyped Loss-of-function	mechanism: IDUA enzyme deficiency

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
mucopolysaccharidosis type 1 MONDO:0001586	AR	Definitive 2020-05-27	no dismech entry

Mechanism modules · computed from kb/

mps_gag_storage via Mucopolysaccharidosis

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.