IDUA

Summary

IDUA (alpha-L-iduronidase, HGNC:5391) is a protein-coding gene on chromosome 4p16.3, encoding Alpha-L-iduronidase (P35475).

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).

Source: NCBI Gene 3425 — RefSeq curated summary.

At a glance

• Gene–disease (curated): mucopolysaccharidosis type 1 (Definitive, ClinGen) — +3 more curated relationships
• GWAS associations: 8
• Clinical variants (ClinVar): 2,442 total — 186 pathogenic, 181 likely-pathogenic
• Phenotypes (HPO): 121
• Druggable target: yes
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity unscored
• MANE Select transcript: NM_000203

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:5391
Approved symbol	IDUA
Name	alpha-L-iduronidase
Location	4p16.3
Locus type	gene with protein product
Status	Approved
Aliases	MPS1, MPSI
Ensembl gene	ENSG00000127415
Ensembl biotype	protein_coding
OMIM	252800
Entrez	3425

Gene structure

Transcript identifiers

Ensembl transcripts: 22 — 13 protein_coding, 5 retained_intron, 4 protein_coding_CDS_not_defined

ENST00000247933, ENST00000502829, ENST00000502910, ENST00000504568, ENST00000506561, ENST00000508168, ENST00000509744, ENST00000509948, ENST00000514192, ENST00000514224, ENST00000514417, ENST00000514698, ENST00000652070, ENST00000871734, ENST00000871735, ENST00000871736, ENST00000871737, ENST00000871738, ENST00000871739, ENST00000962388, ENST00000962389, ENST00000962390

RefSeq mRNA: 2 — MANE Select: NM_000203 NM_000203, NM_001363576

CCDS: CCDS3343

Canonical transcript exons

ENST00000514224 — 14 exons

Exon	Start	End
ENSE00000872488	1001679	1001881
ENSE00000969314	1001982	1002161
ENSE00001304368	1002269	1002485
ENSE00001423282	1003549	1003625
ENSE00003490423	987044	987242
ENSE00003492644	1001468	1001563
ENSE00003494654	1003036	1003157
ENSE00003561974	1000882	1000989
ENSE00003571090	1002732	1002944
ENSE00003580554	1000612	1000697
ENSE00003602292	1003345	1003470
ENSE00003613675	987809	987949
ENSE00003664190	1004260	1004564
ENSE00003669735	1004012	1004112

Expression profiles

Bgee: expression breadth ubiquitous, 209 present calls, max score 96.53.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.7675 / max 168.8527, expressed in 1763 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
46533	8.8792	1700
46532	3.8884	1551

Top tissues by expression

290 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
right hemisphere of cerebellum	UBERON:0014890	96.53	gold quality
cerebellar hemisphere	UBERON:0002245	95.12	gold quality
cerebellar cortex	UBERON:0002129	94.87	gold quality
right uterine tube	UBERON:0001302	93.79	gold quality
metanephros cortex	UBERON:0010533	93.05	gold quality
left adrenal gland cortex	UBERON:0035825	92.87	gold quality
stromal cell of endometrium	CL:0002255	92.80	gold quality
endocervix	UBERON:0000458	92.73	gold quality
right ovary	UBERON:0002118	92.60	gold quality
granulocyte	CL:0000094	92.57	gold quality
right adrenal gland	UBERON:0001233	92.40	gold quality
adenohypophysis	UBERON:0002196	92.37	gold quality
left adrenal gland	UBERON:0001234	92.31	gold quality
right adrenal gland cortex	UBERON:0035827	92.27	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	92.26	gold quality
body of stomach	UBERON:0001161	92.19	gold quality
body of pancreas	UBERON:0001150	92.13	gold quality
sural nerve	UBERON:0015488	92.13	gold quality
left lobe of thyroid gland	UBERON:0001120	92.01	gold quality
left ovary	UBERON:0002119	91.89	gold quality
body of uterus	UBERON:0009853	91.76	gold quality
left uterine tube	UBERON:0001303	91.70	gold quality
minor salivary gland	UBERON:0001830	91.60	gold quality
right lobe of thyroid gland	UBERON:0001119	91.58	gold quality
tibial nerve	UBERON:0001323	91.58	gold quality
mucosa of stomach	UBERON:0001199	91.40	gold quality
adrenal cortex	UBERON:0001235	91.33	gold quality
small intestine Peyer’s patch	UBERON:0003454	91.23	gold quality
pituitary gland	UBERON:0000007	91.20	gold quality
ectocervix	UBERON:0012249	91.16	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.66

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

21 targeting IDUA, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-7110-5P	99.80	67.84	1712
HSA-MIR-6842-5P	99.80	67.54	1587
HSA-MIR-518A-5P	99.70	69.01	2209
HSA-MIR-527	99.70	69.01	2209
HSA-MIR-6752-5P	99.59	67.32	1243
HSA-MIR-7106-5P	99.53	67.47	3574
HSA-MIR-6799-5P	99.14	65.72	2093
HSA-MIR-4436B-3P	98.25	65.26	1494
HSA-MIR-6735-5P	98.24	65.36	1488
HSA-MIR-1263	98.13	69.18	459
HSA-MIR-7843-5P	98.12	65.26	1421
HSA-MIR-10526-3P	97.86	64.97	1342
HSA-MIR-4632-5P	97.82	65.38	1470
HSA-MIR-6879-5P	97.77	65.52	1521
HSA-MIR-5002-3P	95.75	67.04	542
HSA-MIR-1237-5P	95.38	62.21	451
HSA-MIR-4488	95.38	62.00	443
HSA-MIR-4697-5P	95.38	61.72	457
HSA-MIR-6732-5P	93.97	64.65	422

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity Not yet evaluated (unscored). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 40)

• Results show that leukocyte IDUA from mucopolysaccharidosis I heterozygotes differs from the normal enzyme in terms of optimum pH, Km, Vmax and thermostability at 50 degrees C. (PMID:11825626)
• Ninety percent of the MPS I patients in this study were genotyped and revealed 10 recurrent and thirteen novel IDUA gene mutations. (PMID:12559846)
• 6 new mutations, c.1087C>T (p.R363C), c.1804T>A (p.F602I), c.793G>C, c.712T>A (p.L238Q), c.1727+2T>A, & c.1269C>G (p.S423R), in a total of 14 different mutations, & 13 polymorphisms , including the new c.246C>G (p.H82Q), were found in 10 MPS I pts. (PMID:15300847)
• Model provides insights into why certain point mutations produce misfolded proteins and lead to severe mucopolysaccharidosis I, while other mutations produce proteins with minor structural perturbations and therefore the attenuated form of the disease. (PMID:15862278)
• analysis of Alpha-L-Iduronidase mutations in Mucopolysaccharidosis I in Tunisia (PMID:16435195)
• Describe a cohort of 14 Hurler-Scheie patients homozygous for the p.Leu490Pro missense mutation in the alpha-L-iduronidase gene. (PMID:17570076)
• Analysis of the structural change in alpha-L-iduronidase of the severe mucopolysaccharidosis type I (MPS I) group and that of the attenuated disease, except for a couple of mutations, can help to predict the clinical outcome of MPS I. (PMID:18340403)
• Mutations in the 130 C-terminal amino acids lead to clinical manifestations of Mucopolysaccharidosis type I , which indicates a functional importance of the C-terminus of the IDUA protein. (PMID:19396826)
• Studies show that mouse Idua-W392X mutation is analogous to the human IDUA-W402X mutation commonly found in MPS I-H patients. (PMID:19751987)
• This is the first report of IDUA mutations in Egyptian patients with mucopolysaccharidosis type I. (PMID:19839758)
• study describes monozygotic twins with an attenuated form of mucopolysaccharidosis type I associated with a novel mutation of IDUA, who both showed cervical myelopathy as the initial and cardinal manifestation (PMID:21176924)
• This study reports a novel mutation in IDUA, expanding the mutational spectrum for mucopolysaccharidosis type I. (PMID:21364962)
• this study characterized the underlying IDUA mutations in a group of 102 newly studied European patients, including 37 Italians, whose condition has been clinically and biochemically diagnosed as MPS I. (PMID:21394825)
• Transfer of a high level of human alpha-L-iduronidase gene into the central nervous system (CNS) of MPS I mutant mice susceptible to mucopolysaccharidosis (MPS) improves the outcome for MPS when a high level of CNS gene expression is achieved. (PMID:21397026)
• This paper, showed a heterogeneous pattern of mutations and polymorphisms in the IDUA gene among Tunisian patients. (PMID:21521498)
• The identification of two novel alpha-L-iduronidase mutations should facilitate prenatal diagnosis and counseling for MPS I in Tunisia. (PMID:21639919)
• A previously unreported IDUA splice site mutation (NG_008103.1:g.21632G>C; NM_000203.3:c.1727+3G>C) causing a Hurler phenotype in a patient heterozygous for the common p.Q70X (NG_008103.1:g.5862C>T) mutation. (PMID:21831683)
• X-ray diffraction analysis of human alpha-L-iduronidase (PMID:23143250)
• We conclude that this procedure for determining residual IDUA activity in fibroblasts of MPS I patients may be helpful to predict MPS I phenotype. (PMID:23786846)
• Data show that alpha-l-iduronidase (hIDUA) enzyme activity was highly correlated with the N-glycan attached to N372. (PMID:23959878)
• The IDUA structures and biochemical analysis of the disease-relevant P533R mutation have enabled us to correlate the effects of mutations in IDUA to clinical phenotypes. (PMID:24036510)
• The alpha-L-iduronidase missense mutation causing L238Q substitution, when paired with a nonsense mutation, is associated with significant, late-onset brain disease. (PMID:24368159)
• Amino acid substitutions in alpha-L-iduronidase determine the severity of mucopolysaccharidosis type I. (PMID:24480078)
• A new IDUA variant that alters the structure of the signal peptide associated with mucopolysaccharidosis type I is reported. (PMID:25256405)
• Functional characterization of all the novel sequence variants identified in the study would be helpful to confirm the clinical significance and to determine the effect of these variations on the function of respective proteins (IDUA and IDS) (PMID:27146977)
• Molecular studies results unveiled the predominance of(Pro533Arg) IDUA variation in a series of 13 Algerian patients with Mucopolysaccharidosis Type I presented mainly with an attenuated phenotype. (PMID:27196898)
• Enzyme activities (acid alpha-glucosidase (GAA), galactocerebrosidase (GALC), glucocerebrosidase (GBA), alpha-galactosidase A (GLA), alpha-iduronidase (IDUA) and sphingomyeline phosphodiesterase-1 (SMPD-1)) were measured on ~43,000 de-identified dried blood spot (DBS) punches, and screen positive samples were submitted for DNA sequencing to obtain genotype confirmation of disease risk (PMID:27238910)
• Using lysosomal storage disease mucopolysaccharidosis type I (MPS I) dogs tolerized to human IDUA as neonates, we evaluated intrathecal delivery of an adeno-associated virus serotype 9 vector expressing human IDUA as a therapy for the central nervous system manifestations of MPS (PMID:27386755)
• 10 unrelated Korean patients with Mucopolysaccharidosis I, p.L346R and c.704ins5 were most commonly found in Korean patients with Mucopolysaccharidosis I. (PMID:27520059)
• IDUA deletion mutation is associate with with mucopolysaccharidosis type I . (PMID:28604952)
• the p.X654R mutation is an intermediate IDUA allele yielding residual IDUA activity in Thai patients with intermediate mucopolysaccharidosis type I (PMID:29282708)
• IDUA rs6831280 is associated with bone mineral density in the elderly Chinese population may serve as a marker for the genetic susceptibility to osteoporotic fractures. (PMID:31275456)
• pathogenic sequence variations in IDUA gene, which cause the development of mucopolysaccharidosis type 1 in Iranian patients (PMID:31298590)
• “Missing mutations” in MPS I: Identification of two novel copy number variations by an IDUA-specific in house MLPA assay. (PMID:31319022)
• Missense mutations in IUDA gene are associated with mucopolysaccharidosis type I. (PMID:31386236)
• IDUA gene mutations in mucopolysaccharidosis type-1 patients from two Pakistani inbred families. (PMID:31400021)
• IDUA gene mutation is associated with mucopolysaccharidosis type 1. (PMID:31473686)
• Identification of a novel compound heterozygous IDUA mutation underlies Mucopolysaccharidoses type I in a Chinese pedigree. (PMID:31758674)
• Estimated birth prevalence of mucopolysaccharidoses in Brazil. (PMID:31926052)
• Mucopolysaccharidosis Type I Phenotypically Corrected with Edited Hematopoietic Stem Cells: Instead of altering the IDUA gene, a protein was inserted in a repurposable place in the genome known as a ““safe harbor locus””. (PMID:31943709)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	idua	ENSDARG00000062904
mus_musculus	Idua	ENSMUSG00000033540
rattus_norvegicus	Idua	ENSRNOG00000000043
drosophila_melanogaster	Idua	FBGN0032343

Protein

Protein identifiers

Alpha-L-iduronidase — P35475 (reviewed: P35475)

All UniProt accessions (3): P35475, D6R9D5, H0Y9R9

UniProt curated annotations — full annotation on UniProt →

Subunit / interactions. Monomer.

Subcellular location. Lysosome.

Tissue specificity. Ubiquitous.

Post-translational modifications. N-glycosylation at Asn-372 contributes to substrate binding and is required for full enzymatic activity.

Disease relevance. Mucopolysaccharidosis 1H (MPS1H) [MIM:607014] A severe form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1H usually present, within the first year of life, a combination of hepatosplenomegaly, skeletal deformities, corneal clouding and severe intellectual disability. Obstructive airways disease, respiratory infection and cardiac complications usually result in death before 10 years of age. The disease is caused by variants affecting the gene represented in this entry. Mucopolysaccharidosis 1H/S (MPS1H/S) [MIM:607015] A form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. MPS1H/S represents an intermediate phenotype of the MPS1 clinical spectrum. It is characterized by relatively little neurological involvement, but most of the somatic symptoms described for severe MPS1 develop in the early to mid-teens, causing considerable loss of mobility. The disease is caused by variants affecting the gene represented in this entry. Mucopolysaccharidosis 1S (MPS1S) [MIM:607016] A mild form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1S may have little or no neurological involvement, normal stature and life span, but present development of joints stiffness, mild hepatosplenomegaly, aortic valve disease and corneal clouding. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the glycosyl hydrolase 39 family.

Isoforms (2)

UniProt ID	Names	Canonical?
P35475-1	1	yes
P35475-2	2

RefSeq proteins (2): NP_000194, NP_001350505 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000514	Glyco_hydro_39	Family
IPR013783	Ig-like_fold	Homologous_superfamily
IPR017853	GH_hydrolase_sf	Homologous_superfamily
IPR049165	GH39_as	Active_site
IPR049166	GH39_cat	Domain
IPR049167	GH39_C	Domain
IPR051923	Glycosyl_Hydrolase_39	Family

Pfam: PF01229, PF21200

Enzyme classification (BRENDA):

• EC 3.2.1.76 — L-iduronidase (BRENDA: 7 organisms, 35 substrates, 36 inhibitors, 41 Km, 3 kcat entries)

Substrate kinetics (BRENDA)

12 substrates with measured Km, best-characterized 12. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
4-METHYLUMBELLIFERYL-ALPHA-L-IDURONIDE	0.015–1.92	16
4-METHYLUMBELLIFERYL ALPHA-L-IDURONIDE	0.031–1.48	5
PHENYL ALPHA-L-IDURONIDE	0.2–1.5	4
2,5-ANHYDRO-3-O-ALPHA-L-IDOPYRANURONOSYL-D-MANNI	0.016–0.14	3
2,5-ANHYDRO-4-O-ALPHA-L-IDOPYRANURONOSYL-D-MANNI	0.002–0.12	3
IDOA-GLCNAC6S-IDOA2S-ANM6S	0.001–0.003	2
IDOA-GLCNS6S-IDOA2S-ANM6S	0.001–0.002	2
4-NITROPHENYL-ALPHA-L-IDOPYRANOSIDURONATE	0.53	1
ALPHA-L-IDURONOSYL-(1->3)-2,5-ANHYDRO-D-TALITOL	0.08	1
ANHYDROMANNITOL IDURONIDE	9	1
IDOA-GLCNH6S-IDOA2S-ANM6S	0.001	1
5-FLUORO-ALPHA-L-IDOPYRANOSYLURONIC ACID FLUORID	—	0

UniProt features (154 total): sequence variant 66, strand 34, helix 18, binding site 15, turn 7, glycosylation site 6, active site 2, splice variant 2, signal peptide 1, chain 1, disulfide bond 1, sequence conflict 1

Structure

Experimental structures (PDB)

11 structures.

PDB	Method	Resolution (Å)
6I6R	X-RAY DIFFRACTION	2.02
4MJ2	X-RAY DIFFRACTION	2.1
4MJ4	X-RAY DIFFRACTION	2.17
4OBS	X-RAY DIFFRACTION	2.26
3W81	X-RAY DIFFRACTION	2.3
4KH2	X-RAY DIFFRACTION	2.36
6I6X	X-RAY DIFFRACTION	2.39
4OBR	X-RAY DIFFRACTION	2.46
4KGL	X-RAY DIFFRACTION	2.7
3W82	X-RAY DIFFRACTION	2.76
4KGJ	X-RAY DIFFRACTION	2.99

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P35475-F1	95.12	0.92

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (2): 182 (proton donor); 299 (nucleophile)

Ligand- & substrate-binding residues (15): 264; 299; 305; 306; 349; 363; 488; 492; 492; 54; 56; 58 …

Disulfide bonds (1): 541–577

Glycosylation sites (6): 110, 190, 336, 372, 415, 451

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-2024096	HS-GAG degradation
R-HSA-2024101	CS/DS degradation
R-HSA-2206302	MPS I - Hurler syndrome (HS-GAG degradation)
R-HSA-9953038	MPS I - Hurler syndrome (CS/DS degradation)

MSigDB gene sets: 414 (showing top): GOBP_OLIGOSACCHARIDE_METABOLIC_PROCESS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_CATABOLIC_PROCESS, KEGG_LYSOSOME, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, BROWNE_HCMV_INFECTION_48HR_DN, GCM_RING1, GOBP_HEPARAN_SULFATE_PROTEOGLYCAN_METABOLIC_PROCESS, GCM_FCGR2B, GOBP_AMINOGLYCAN_METABOLIC_PROCESS, GOBP_CARBOHYDRATE_METABOLIC_PROCESS, chr4p16, BOYAULT_LIVER_CANCER_SUBCLASS_G1_UP

GO Biological Process (6): disaccharide metabolic process (GO:0005984), glycosaminoglycan catabolic process (GO:0006027), heparan sulfate proteoglycan catabolic process (GO:0030200), dermatan sulfate proteoglycan catabolic process (GO:0030209), heparin proteoglycan catabolic process (GO:0030211), carbohydrate metabolic process (GO:0005975)

GO Molecular Function (5): L-iduronidase activity (GO:0003940), signaling receptor binding (GO:0005102), hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553), hydrolase activity (GO:0016787), hydrolase activity, acting on glycosyl bonds (GO:0016798)

GO Cellular Component (3): lysosomal lumen (GO:0043202), extracellular exosome (GO:0070062), lysosome (GO:0005764)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Mucopolysaccharidoses	2
Heparan sulfate/heparin (HS-GAG) metabolism	1
Chondroitin sulfate/dermatan sulfate metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
proteoglycan catabolic process	3
oligosaccharide metabolic process	1
aminoglycan catabolic process	1
glycosaminoglycan metabolic process	1
heparan sulfate proteoglycan metabolic process	1
dermatan sulfate proteoglycan metabolic process	1
heparin proteoglycan metabolic process	1
primary metabolic process	1
hydrolase activity, hydrolyzing O-glycosyl compounds	1
protein binding	1
hydrolase activity, acting on glycosyl bonds	1
catalytic activity	1
hydrolase activity	1
lysosome	1
vacuolar lumen	1
extracellular vesicle	1
lytic vacuole	1

Protein interactions and networks

STRING

1801 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
IDUA	MGAM	O43451	832
IDUA	SI	P14410	832
IDUA	IDS	P22304	814
IDUA	NAGLU	P54802	775
IDUA	GALNS	P34059	772
IDUA	ARSB	P15848	736
IDUA	SGSH	P51688	726
IDUA	GUSB	P08236	717
IDUA	ARSA	P15289	690
IDUA	GLA	P06280	672
IDUA	HGSNAT	Q68CP4	614
IDUA	GALC	P54803	609
IDUA	GNS	P15586	581
IDUA	GLB1	P16278	547
IDUA	GBA1	P04062	544

IntAct

56 interactions, top by confidence:

A	B	Type	Score
FBXO6	MAN2B1	psi-mi:“MI:0914”(association)	0.640
CA10	WDHD1	psi-mi:“MI:0914”(association)	0.640
FBXO2	TMEM131L	psi-mi:“MI:0914”(association)	0.530
CRP	QSOX1	psi-mi:“MI:0914”(association)	0.530
C1orf54	EXTL3	psi-mi:“MI:0914”(association)	0.530
	TK2	psi-mi:“MI:0915”(physical association)	0.400
SCGB2A2	GXYLT2	psi-mi:“MI:0914”(association)	0.350
MFAP4	CRLF1	psi-mi:“MI:0914”(association)	0.350
PDGFRA	GXYLT2	psi-mi:“MI:0914”(association)	0.350
LLCFC1	POTEF	psi-mi:“MI:0914”(association)	0.350
PSCA	METTL15	psi-mi:“MI:0914”(association)	0.350
SCGB2A2	RTL8C	psi-mi:“MI:0914”(association)	0.350
C1orf54	AGRN	psi-mi:“MI:0914”(association)	0.350
BTNL2	TMEM131L	psi-mi:“MI:0914”(association)	0.350
SFTPC	TMEM131L	psi-mi:“MI:0914”(association)	0.350
LY86	TMEM131L	psi-mi:“MI:0914”(association)	0.350
PTCH1	TMEM131L	psi-mi:“MI:0914”(association)	0.350
IL5RA	POTEF	psi-mi:“MI:0914”(association)	0.350
LCN6	POTEF	psi-mi:“MI:0914”(association)	0.350
NCR3	POTEF	psi-mi:“MI:0914”(association)	0.350
DNAJB9	POTEF	psi-mi:“MI:0914”(association)	0.350
CFC1	POTEF	psi-mi:“MI:0914”(association)	0.350
IGLL5	POTEF	psi-mi:“MI:0914”(association)	0.350
FGFBP1		psi-mi:“MI:0914”(association)	0.350
ISLR		psi-mi:“MI:0914”(association)	0.350
GPIHBP1	SAC3D1	psi-mi:“MI:0914”(association)	0.350
NAAA	HAX1	psi-mi:“MI:0914”(association)	0.350
MFAP4	QSOX1	psi-mi:“MI:0914”(association)	0.350
CA6	QSOX1	psi-mi:“MI:0914”(association)	0.350

BioGRID (70): IDUA (Affinity Capture-MS), IDUA (Affinity Capture-MS), IDUA (Affinity Capture-MS), IDUA (Affinity Capture-MS), IDUA (Affinity Capture-RNA), IDUA (Affinity Capture-MS), IDUA (Affinity Capture-MS), IDUA (Affinity Capture-MS), IDUA (Affinity Capture-MS), IDUA (Affinity Capture-MS), IDUA (Affinity Capture-MS), IDUA (Affinity Capture-MS), IDUA (Affinity Capture-MS), IDUA (Affinity Capture-MS), IDUA (Affinity Capture-MS)

ESM2 similar proteins: A6NE02, A8MY62, A8T672, A8T677, A8T695, C9JR72, D3Z7H8, O08644, O15197, O19179, O62763, O94766, P0C0K6, P0C0K7, P21836, P22303, P24347, P35475, P50427, P51839, P51840, P52785, P54760, P55203, Q01634, Q02846, Q04912, Q29499, Q2KHV9, Q2T9T9, Q3UH93, Q5JZY3, Q69ZQ1, Q6NSJ0, Q6ZPS2, Q80W65, Q8BH02, Q8BYG9, Q8CG64, Q8IUL8

Diamond homologs: P35475, P48441, Q01634, Q9ZFM2, Q9VKJ8, O30360, P23552, P36906

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 75 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

GO biological processes:

GO term	Partners	Fold	FDR
ERAD pathway	5	13.3×	1e-02

Disease & clinical

Clinical variants and AI predictions

ClinVar

2442 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	186
Likely pathogenic	181
Uncertain significance	882
Likely benign	926
Benign	64

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1032924	NM_000203.5(IDUA):c.1681C>T (p.Gln561Ter)	Pathogenic
1068958	NM_000203.5(IDUA):c.853del (p.Gln285fs)	Pathogenic
1069822	NM_000203.5(IDUA):c.585dup (p.Gln196fs)	Pathogenic
1070696	NM_000203.5(IDUA):c.910del (p.Val304fs)	Pathogenic
1070716	NC_000004.11:g.(?996510)(998355_?)del	Pathogenic
1072608	NM_000203.5(IDUA):c.905del (p.Pro302fs)	Pathogenic
1075107	NM_000203.5(IDUA):c.1108C>T (p.Gln370Ter)	Pathogenic
1076379	NM_000203.5(IDUA):c.882dup (p.Ile295fs)	Pathogenic
1172652	NM_000203.5(IDUA):c.1589_1596dup (p.Pro533fs)	Pathogenic
1184991	NM_000203.5(IDUA):c.911del (p.Val304fs)	Pathogenic
11908	NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter)	Pathogenic
11910	NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg)	Pathogenic
11914	NM_000203.5(IDUA):c.192C>A (p.Tyr64Ter)	Pathogenic
11916	NM_000203.5(IDUA):c.1096A>C (p.Thr366Pro)	Pathogenic
11917	NM_000203.5(IDUA):c.1861C>T (p.Arg621Ter)	Pathogenic
11921	NM_000203.5(IDUA):c.613_617dup (p.Glu207fs)	Pathogenic
11922	NM_000203.5(IDUA):c.266G>A (p.Arg89Gln)	Pathogenic
11925	NM_000203.5(IDUA):c.1091C>T (p.Thr364Met)	Pathogenic
11927	NM_000203.5(IDUA):c.1037T>G (p.Leu346Arg)	Pathogenic
1204494	NM_000203.5(IDUA):c.1190-1G>A	Pathogenic
1321357	NM_000203.5(IDUA):c.540G>A (p.Trp180Ter)	Pathogenic
1323093	NM_000203.5(IDUA):c.299+1G>C	Pathogenic
1323094	NM_000203.5(IDUA):c.965del (p.Val322fs)	Pathogenic
1323095	NM_000203.5(IDUA):c.165del (p.Leu56fs)	Pathogenic
1323096	NM_000203.5(IDUA):c.1343_1365del (p.Ala448fs)	Pathogenic
1323097	NM_000203.5(IDUA):c.570del (p.Asn190fs)	Pathogenic
1323098	NM_000203.5(IDUA):c.1A>G (p.Met1Val)	Pathogenic
1323100	NM_000203.5(IDUA):c.603C>G (p.Tyr201Ter)	Pathogenic
1324568	NM_000203.5(IDUA):c.1648C>T (p.Gln550Ter)	Pathogenic
1339515	NM_000203.5(IDUA):c.1496_1497del (p.Glu499fs)	Pathogenic

SpliceAI

2948 predictions. Top by Δscore:

Variant	Effect	Δscore
4:1000610:AGG:A	acceptor_gain	1.0000
4:1000610:AGGG:A	acceptor_gain	1.0000
4:1000611:GGG:G	acceptor_gain	1.0000
4:1000611:GGGG:G	acceptor_gain	1.0000
4:1000694:CCAGG:C	donor_loss	1.0000
4:1000697:GGTGA:G	donor_loss	1.0000
4:1000698:GTG:G	donor_loss	1.0000
4:1000699:T:G	donor_loss	1.0000
4:1002941:CCGGG:C	donor_loss	1.0000
4:1002943:GG:G	donor_gain	1.0000
4:1002943:GGGT:G	donor_loss	1.0000
4:1002944:GG:G	donor_gain	1.0000
4:1002944:GGT:G	donor_loss	1.0000
4:1002945:G:GG	donor_gain	1.0000
4:1002946:TAA:T	donor_loss	1.0000
4:1003155:GAG:G	donor_gain	1.0000
4:1003157:GG:G	donor_loss	1.0000
4:1003158:G:GG	donor_gain	1.0000
4:1003626:G:GG	donor_gain	1.0000
4:1003630:G:GG	donor_gain	1.0000
4:1004000:T:TA	acceptor_gain	1.0000
4:1004008:CCAGG:C	acceptor_loss	1.0000
4:1004009:CAG:C	acceptor_loss	1.0000
4:1004075:G:GT	donor_gain	1.0000
4:1004108:CCCAG:C	donor_loss	1.0000
4:1004109:CCAG:C	donor_loss	1.0000
4:1004110:CAGG:C	donor_loss	1.0000
4:1004111:AG:A	donor_loss	1.0000
4:1004112:GG:G	donor_loss	1.0000
4:1004113:G:GA	donor_loss	1.0000

AlphaMissense

4185 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:1002342:A:T	D349V	0.997
4:1001497:T:A	W175R	0.996
4:1001497:T:C	W175R	0.996
4:1002085:A:T	E299V	0.996
4:1002350:T:C	F352L	0.996
4:1002352:C:A	F352L	0.996
4:1002352:C:G	F352L	0.996
4:1002356:A:C	S354R	0.996
4:1002358:C:A	S354R	0.996
4:1002358:C:G	S354R	0.996
4:1001512:T:A	W180R	0.995
4:1001512:T:C	W180R	0.995
4:1001517:T:A	N181K	0.995
4:1001517:T:G	N181K	0.995
4:1002342:A:C	D349A	0.995
4:1001873:C:G	H262D	0.994
4:1002080:C:A	N297K	0.994
4:1002080:C:G	N297K	0.994
4:1002335:A:C	S347R	0.994
4:1002337:C:A	S347R	0.994
4:1002337:C:G	S347R	0.994
4:1002402:T:C	F369S	0.994
4:1000950:T:A	W152R	0.993
4:1000950:T:C	W152R	0.993
4:1002086:G:C	E299D	0.993
4:1002086:G:T	E299D	0.993
4:1002341:G:C	D349H	0.993
4:1002343:C:A	D349E	0.993
4:1002343:C:G	D349E	0.993
4:1001881:G:C	K264N	0.992

dbSNP variants (sampled 300 via entrez): RS1000185990 (4:988355 G>A,T), RS1000427989 (4:996240 C>G,T), RS1000466664 (4:985239 C>G), RS1000523095 (4:1001148 C>A,G,T), RS10006578 (4:999121 T>A,C,G), RS1000704882 (4:988146 G>A), RS1000720388 (4:1000118 G>A,C), RS1000983511 (4:1006526 C>T), RS10010999 (4:1008009 C>A,T), RS1001109501 (4:1004559 A>C,G,T), RS10011708 (4:1006474 A>G), RS1001375660 (4:1002517 G>A), RS1001441515 (4:1004996 G>A), RS1001653651 (4:1007304 G>A), RS1001806094 (4:1006469 A>T)

Disease associations

OMIM: gene MIM:252800 | disease phenotypes: MIM:607014, MIM:167030, MIM:620372, MIM:253000, MIM:607015, MIM:607016, MIM:263800, MIM:309900

GenCC curated gene-disease

Disease	Classification	Inheritance
mucopolysaccharidosis type 1	Definitive	Autosomal recessive
Scheie syndrome	Definitive	Autosomal recessive
Hurler syndrome	Strong	Autosomal recessive
Hurler-Scheie syndrome	Strong	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
mucopolysaccharidosis type 1	Definitive	AR

Mondo (12): mucopolysaccharidosis type 1 (MONDO:0001586), Hurler syndrome (MONDO:0011758), nephrolithiasis susceptibility caused by SLC26A1 (MONDO:0020722), hypersulfaturia (MONDO:0957268), nephrolithiasis, calcium oxalate (MONDO:0957318), mucopolysaccharidosis type 4A (MONDO:0009659), Hurler-Scheie syndrome (MONDO:0011759), Scheie syndrome (MONDO:0011760), Gitelman syndrome (MONDO:0009904), mucopolysaccharidosis type 2 (MONDO:0010674), lung disorder (MONDO:0005275), mucopolysaccharidosis (MONDO:0019249)

Orphanet (11): Mucopolysaccharidosis type 1 (Orphanet:579), Hurler syndrome (Orphanet:93473), Mucopolysaccharidosis type 4A (Orphanet:309297), Mucopolysaccharidosis type 4 (Orphanet:582), Hurler-Scheie syndrome (Orphanet:93476), Scheie syndrome (Orphanet:93474), Gitelman syndrome (Orphanet:358), Mucopolysaccharidosis type 2 (Orphanet:580), Mucopolysaccharidosis with skin involvement (Orphanet:79388), Rare pulmonary disease (Orphanet:101944), Mucopolysaccharidosis (Orphanet:79213)

HPO phenotypes

121 total (30 of 121 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000023	Inguinal hernia
HP:0000154	Wide mouth
HP:0000158	Macroglossia
HP:0000212	Gingival overgrowth
HP:0000232	Everted lower lip vermilion
HP:0000238	Hydrocephalus
HP:0000256	Macrocephaly
HP:0000268	Dolichocephaly
HP:0000280	Coarse facial features
HP:0000283	Broad face
HP:0000293	Full cheeks
HP:0000303	Mandibular prognathia
HP:0000316	Hypertelorism
HP:0000347	Micrognathia
HP:0000365	Hearing impairment
HP:0000403	Recurrent otitis media
HP:0000407	Sensorineural hearing impairment
HP:0000431	Wide nasal bridge
HP:0000445	Wide nose
HP:0000455	Broad nasal tip
HP:0000463	Anteverted nares
HP:0000470	Short neck
HP:0000488	Retinopathy
HP:0000501	Glaucoma
HP:0000546	Retinal degeneration
HP:0000574	Thick eyebrow
HP:0000691	Microdontia
HP:0000716	Depression
HP:0000772	Abnormal rib morphology

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST001482_27	Lumbar spine bone mineral density	5.000000e-15
GCST003129_30	Primary biliary cholangitis	9.000000e-12
GCST005334_4	Limited cutaneous systemic scleroderma	2.000000e-06
GCST006052_8	Polymyositis	8.000000e-06
GCST006585_1181	Blood protein levels	1.000000e-157
GCST006979_317	Heel bone mineral density	2.000000e-13
GCST90002396_264	Mean reticulocyte volume	7.000000e-10
GCST90020024_1238	A body shape index	2.000000e-08

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:1001017	limited scleroderma
EFO:0009270	heel bone mineral density
EFO:0010701	mean reticulocyte volume
EFO:0007789	BMI-adjusted waist circumference

MeSH disease descriptors (4)

Descriptor	Name	Tree numbers
D053579	Gitelman Syndrome	C12.050.351.968.419.815.491; C12.200.777.419.815.491; C12.950.419.815.491; C16.320.831.491
D008171	Lung Diseases	C08.381
D009083	Mucopolysaccharidoses	C16.320.565.202.715; C16.320.565.595.600; C17.300.550.575; C18.452.648.202.715; C18.452.648.595.600
D016532	Mucopolysaccharidosis II	C10.597.606.360.455.750; C16.320.322.500.750; C16.320.400.525.750; C16.320.565.202.715.645; C16.320.565.595.600.645; C17.300.550.575.645; C18.452.648.202.715.645; C18.452.648.595.600.645

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5169131 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

Binding affinities (BindingDB)

4 measured of 4 human assays (4 total across all organisms); most potent 4 below. Values come from heterogeneous assays and are not directly comparable.

Ligand	Measure	Value	Patent
US20250243227, Compound 27c	IC50	1000 nM	US-20250243227: IDURONIDASE STABILIZERS AND USES THEREOF
US20250243227, Compound 12	KI	4000 nM	US-20250243227: IDURONIDASE STABILIZERS AND USES THEREOF
US20250243227, Compound 27b	IC50	4000 nM	US-20250243227: IDURONIDASE STABILIZERS AND USES THEREOF
US20250243227, Compound 27a	IC50	5400 nM	US-20250243227: IDURONIDASE STABILIZERS AND USES THEREOF

ChEMBL bioactivities

6 potent at pChembl≥5 of 10 total, top 6 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
6.00	IC50	1000	nM	CHEMBL5412489
5.92	Ki	1200	nM	CHEMBL5401835
5.40	IC50	4000	nM	CHEMBL5426982
5.40	Ki	4000	nM	CHEMBL5428294
5.27	IC50	5400	nM	CHEMBL5419841
5.17	IC50	6700	nM	CHEMBL5428294

PubChem BioAssay actives

6 with measured affinity, of 29 total; 5 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
(2R,3S,4R,5R,6S)-3,4,5-trihydroxy-6-[2-[[2-(2-phosphonooxyphenyl)acetyl]amino]ethyl]oxane-2-carboxylic acid	2002722: Inhibition of human recombinant alpha-L-iduronidase using 4-methylumbelliferyl-alpha-iduronide as fluorogenic substrate	ic50	1.0000	uM
(2S,3S,4R,5R,6S)-2,6-difluoro-3,4,5-trihydroxyoxane-2-carboxylic acid	2002735: Inhibition of alpha-L-iduronidase (unknown origin) assessed as inhibition constant	ki	1.2000	uM
(2R,3S,4R,5R,6S)-6-(2-aminoethyl)-3,4,5-trihydroxyoxane-2-carboxylic acid	2002723: Inhibition of human recombinant alpha-L-iduronidase using 4-methylumbelliferyl-alpha-iduronide as fluorogenic substrate assessed as inhibition constant by Lineweaver-Burk plot analysis	ki	4.0000	uM
(2R,3S,4R,5R,6S)-3,4,5-trihydroxy-6-[2-[[2-(3-phosphonooxyphenyl)acetyl]amino]ethyl]oxane-2-carboxylic acid	2002722: Inhibition of human recombinant alpha-L-iduronidase using 4-methylumbelliferyl-alpha-iduronide as fluorogenic substrate	ic50	4.0000	uM
(2R,3S,4R,5R,6S)-3,4,5-trihydroxy-6-[2-[[2-(4-phosphonooxyphenyl)acetyl]amino]ethyl]oxane-2-carboxylic acid	2002722: Inhibition of human recombinant alpha-L-iduronidase using 4-methylumbelliferyl-alpha-iduronide as fluorogenic substrate	ic50	5.4000	uM

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Gentamicins	increases activity, increases expression, decreases abundance	2
Smoke	decreases expression	2
Cadmium Chloride	decreases expression, increases abundance	2
OTX015	increases expression	1
mivebresib	increases expression	1
sodium arsenite	decreases expression	1
jinfukang	affects cotreatment, increases expression	1
(+)-JQ1 compound	increases expression	1
Air Pollutants	increases expression, increases abundance	1
Cadmium	decreases expression, increases abundance	1
Cisplatin	affects cotreatment, increases expression	1
Glycosaminoglycans	decreases abundance, increases activity, increases expression	1
Hydrogen Peroxide	affects cotreatment, decreases expression	1
Lead	affects expression	1
Pesticides	affects methylation	1
Selenium	affects cotreatment, increases expression	1
Testosterone	decreases expression	1
Theophylline	affects cotreatment, decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Urethane	decreases expression	1
Valproic Acid	increases methylation	1
Vitamin E	affects cotreatment, increases expression	1
Cyclosporine	decreases expression	1
Aflatoxin B1	increases methylation	1
Sodium Selenite	decreases expression	1
Okadaic Acid	decreases expression	1
Acrylamide	decreases expression	1
Particulate Matter	increases abundance, increases expression	1

ChEMBL screening assays

15 unique, capped per target: 15 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5109029	Binding	Inhibition of human recombinant alpha-L-iduronidase incubated for 60 mins by fluoroscence based assay	Cascade synthetic strategies opening access to medicinal-relevant aliphatic 3- and 4-membered N-heterocyclic scaffolds. — Eur J Med Chem

Cellosaurus cell lines

19 cell lines: 9 finite cell line, 7 induced pluripotent stem cell, 3 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_1V09	GM00799	Finite cell line	Female
CVCL_1V10	GM00800	Finite cell line	Male
CVCL_1V16	GM06214	Finite cell line	Male
CVCL_1V17	GM01256	Finite cell line	Male
CVCL_1V18	GM01323	Finite cell line	Male
CVCL_B5TJ	HT142C	Induced pluripotent stem cell	Male
CVCL_C929	MPS-KC-iPS 1	Induced pluripotent stem cell	Male
CVCL_C930	MPS-KC-iPS 2	Induced pluripotent stem cell	Male
CVCL_C931	MPS-MSC-iPS 2	Induced pluripotent stem cell	Male
CVCL_D5EW	HeLa::TMEM192-3xHA IDUA KO	Cancer cell line	Female

Clinical trials (associated diseases)

251 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00144768	PHASE4	COMPLETED	A Study Investigating the Relationship Between the Development of Laronidase Antibody and Urinary GAG (Glycosaminoglycan) Levels in Aldurazyme® Treated Patients
NCT00144781	PHASE4	COMPLETED	A Dose-optimization Study of Aldurazyme® (Laronidase) in Patients With Mucopolysaccharidosis I (MPS I) Disease
NCT00418821	PHASE4	TERMINATED	A Study of the Effect of Aldurazyme® (Laronidase) Treatment on Lactation in Female Patients With Mucopolysaccharidosis I (MPS I) and Their Breastfed Infants
NCT02297048	PHASE4	COMPLETED	Monocentric STUDY, Randomised Double Blinded (Healthy Subjects, or Transversal (Patients With Gitelman Syndrome)
NCT00607386	PHASE4	COMPLETED	Safety and Clinical Outcomes in Hunter Syndrome Patients 5 Years of Age and Younger Receiving Idursulfase Therapy
NCT02455622	PHASE4	COMPLETED	Long-term Evaluation on Height and Weight in Patients With MPS II Who Started Treatment at < 6 Years of Age
NCT05058391	PHASE4	COMPLETED	A Study of Elaprase in Children and Adults With Hunter Syndrome (Mucopolysaccharidosis II) in India
NCT05494593	PHASE4	WITHDRAWN	A Study of ELAPRASE in Treatment-naïve Participants With Hunter Syndrome (Mucopolysaccharidosis [MPS] II)
NCT00075179	PHASE4	TERMINATED	Natrecor in Pulmonary Hypertension
NCT00139152	PHASE4	COMPLETED	Non-invasive Ways to Evaluate Lung Disease After Treatment With Xolair
NCT00146497	PHASE4	TERMINATED	Cytokine Change in Bronchoalveolar Lavage Fluid After Early Budesonide-Surfactant Treatment in Premature Infants
NCT00233064	PHASE4	COMPLETED	Study to Assess the Immune Reactivity of the Liquid and Lyophilized Formulations of Palivizumab (MEDI-493, Synagis)
NCT00367913	PHASE4	COMPLETED	Clarithromycin v Ciprofloxacin Added to Rifampicin + Ethambutol, for Opportunist Mycobacterial Pulmonary Disease
NCT00704171	PHASE4	COMPLETED	PleuraSeal Post Market Study (Europe)
NCT01148706	PHASE4	COMPLETED	Effectiveness of ActiSight™ Needle Guidance System in Patients Undergoing CT-Guided Procedures
NCT01183182	PHASE4	COMPLETED	Safety and Effectiveness Study for a Needle Guidance System in Lung Biopsies
NCT01236495	PHASE4	COMPLETED	Comparison for Pethidine Requirement in Patients Received Spinal Morphine 0.2 and 0.3 mg for Post Lobectomy Analgesia
NCT01326611	PHASE4	COMPLETED	Efficacy of Clarithromycin Treatment in Prevention of Chronic Lung Disease in Premature Infants
NCT01377051	PHASE4	COMPLETED	Effect of Indacaterol Maleate in Chronic Obstructive Pulmonary Disease (COPD) on Lung Volume and Related Dyspnea
NCT01443845	PHASE4	COMPLETED	Roflumilast in Chronic Obstructive Pulmonary Disease (COPD) Patients Treated With Fixed Dose Combinations of Long-acting β2-agonist (LABA) and Inhaled Corticosteroid (ICS)
NCT01460108	PHASE4	UNKNOWN	AeriSeal System in Patients With Advanced Upper Lobe Predominant Emphysema and Collateral Ventilation
NCT02282384	PHASE4	WITHDRAWN	An RCT of Oseltamivir in Outpatients With CPD: A Pilot Study.
NCT02330952	PHASE4	COMPLETED	Efficacy of Corticosteroids to Treat Outpatients With Acute Exacerbations of COPD
NCT02596048	PHASE4	COMPLETED	A Multicenter Study of Iomeron®-400 Used With Multi-detector Computed Tomography Angiography (MDCTA)
NCT02668978	PHASE4	COMPLETED	SEALLS (Sealing Evaluation of Air Leaks After Lung Surgery) Trial Using HEMOPATCH
NCT03905837	PHASE4	COMPLETED	Impact of Lidocaine Administration on Postoperative Complications During Lung Resection Surgery
NCT03937583	PHASE4	UNKNOWN	Screening for Cancer in Patients With Unprovoked VTE
NCT04263038	PHASE4	RECRUITING	Clinical Surveillance vs. Anticoagulation for Low-risk Patients With Isolated Subsegmental Pulmonary Embolism
NCT04319705	PHASE4	UNKNOWN	Anti-viral Effects of Azithromycin in Patients With Asthma and COPD
NCT05077111	PHASE4	UNKNOWN	A Comparative Study Between Regional Anesthesia in Thoracoscopes and the Conventional General Anesthesia
NCT05144828	PHASE4	COMPLETED	Efficacy of Intercostal CryoAnalgesia in Robotic Lung Resection
NCT05967117	PHASE4	RECRUITING	Chest CT Using Low-concentration Iodine Contrast Media
NCT06272370	PHASE4	COMPLETED	Individualizing Treatment for Asthma in Primary Care
NCT00258011	PHASE3	COMPLETED	Study of Aldurazyme® Replacement Therapy in Patients With Mucopolysaccharidosis I (MPS I) Disease
NCT06406153	PHASE3	COMPLETED	Efficacy and Safety of YW17 (Laronidase-CinnaGen) Compared to Aldurazyme® in MPS I Patients
NCT00146770	PHASE3	COMPLETED	Phase 3 Extension Study of the Safety and Efficacy of Aldurazyme® (Laronidase) in Mucopolysaccharidosis I (MPS I) Patients
NCT00912925	PHASE3	COMPLETED	Clinical Study of Aldurazyme in Patients With Mucopolysaccharidosis (MPS) I
NCT01275066	PHASE3	COMPLETED	A Double-Blind Study to Evaluate the Efficacy and Safety of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome)
NCT01415427	PHASE3	COMPLETED	Long-Term Efficacy and Safety Extension Study of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome)
NCT01645189	PHASE3	COMPLETED	Safety and Efficacy of Hunterase