LHFPL2

Summary

LHFPL2 (LHFPL tetraspan subfamily member 2, HGNC:6588) is a protein-coding gene on chromosome 5q14.1, encoding LHFPL tetraspan subfamily member 2 protein (Q6ZUX7). Plays a role in female and male fertility.

This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in one LHFP-like gene result in deafness in humans and mice, and a second LHFP-like gene is fused to a high-mobility group gene in a translocation-associated lipoma. Alternatively spliced transcript variants have been found, but their biological validity has not been determined.

Source: NCBI Gene 10184 — RefSeq curated summary.

At a glance

• GWAS associations: 17
• Clinical variants (ClinVar): 39 total — 1 pathogenic
• MANE Select transcript: NM_005779

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6588
Approved symbol	LHFPL2
Name	LHFPL tetraspan subfamily member 2
Location	5q14.1
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0206
Ensembl gene	ENSG00000145685
Ensembl biotype	protein_coding
OMIM	609718
Entrez	10184

Gene structure

Transcript identifiers

Ensembl transcripts: 33 — 27 protein_coding, 6 protein_coding_CDS_not_defined

ENST00000380345, ENST00000502722, ENST00000503686, ENST00000510949, ENST00000512759, ENST00000514587, ENST00000515007, ENST00000515349, ENST00000872133, ENST00000872134, ENST00000872135, ENST00000872136, ENST00000872137, ENST00000872138, ENST00000872139, ENST00000872140, ENST00000872141, ENST00000930172, ENST00000930173, ENST00000930174, ENST00000930175, ENST00000930176, ENST00000930177, ENST00000930178, ENST00000930179, ENST00000930180, ENST00000930181, ENST00000969887, ENST00000969888, ENST00000969889, ENST00000969890, ENST00000969891, ENST00000969892

RefSeq mRNA: 1 — MANE Select: NM_005779 NM_005779

CCDS: CCDS4042

Canonical transcript exons

ENST00000380345 — 5 exons

Exon	Start	End
ENSE00001484617	78485230	78489153
ENSE00001524086	78564813	78564871
ENSE00001524087	78632264	78632368
ENSE00001524089	78648499	78648772
ENSE00003894561	78509784	78510398

Expression profiles

Bgee: expression breadth ubiquitous, 282 present calls, max score 97.09.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 27.8399 / max 452.7181, expressed in 1735 samples.

FANTOM5 promoters (18 alternative TSS)

Promoter ID	TPM avg	Samples expressed
62210	8.1562	669
62234	8.1019	1582
62235	6.3876	1590
62211	1.1652	342
62233	0.6586	410
62212	0.6494	228
62230	0.6468	145
62232	0.5767	344
62209	0.5039	153
62231	0.3665	149

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
vena cava	UBERON:0004087	97.09	gold quality
calcaneal tendon	UBERON:0003701	95.56	gold quality
layer of synovial tissue	UBERON:0007616	95.14	gold quality
synovial joint	UBERON:0002217	95.13	gold quality
cartilage tissue	UBERON:0002418	95.01	gold quality
olfactory bulb	UBERON:0002264	93.37	gold quality
saphenous vein	UBERON:0007318	92.71	gold quality
pericardium	UBERON:0002407	92.50	gold quality
tendon of biceps brachii	UBERON:0008188	92.50	gold quality
tendon	UBERON:0000043	92.02	gold quality
duodenum	UBERON:0002114	91.22	gold quality
smooth muscle tissue	UBERON:0001135	90.97	gold quality
decidua	UBERON:0002450	90.69	gold quality
ileal mucosa	UBERON:0000331	90.42	gold quality
mucosa of urinary bladder	UBERON:0001259	90.36	gold quality
rectum	UBERON:0001052	89.28	gold quality
islet of Langerhans	UBERON:0000006	89.26	gold quality
epithelium of mammary gland	UBERON:0003244	88.93	gold quality
gall bladder	UBERON:0002110	88.90	gold quality
mammary duct	UBERON:0001765	88.42	gold quality
inferior vagus X ganglion	UBERON:0005363	88.24	gold quality
visceral pleura	UBERON:0002401	88.01	gold quality
parotid gland	UBERON:0001831	87.87	gold quality
periodontal ligament	UBERON:0008266	87.77	gold quality
saliva-secreting gland	UBERON:0001044	87.67	gold quality
minor salivary gland	UBERON:0001830	87.32	gold quality
tibial artery	UBERON:0007610	87.28	gold quality
popliteal artery	UBERON:0002250	87.27	gold quality
right coronary artery	UBERON:0001625	87.22	gold quality
mammary gland	UBERON:0001911	87.22	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-GEOD-75367	yes	373.62
E-HCAD-35	yes	32.46
E-ANND-3	yes	16.04
E-CURD-11	no	185.41

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

174 targeting LHFPL2, 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-1277-5P	100.00	73.95	5056
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-196A-5P	100.00	68.16	684
HSA-MIR-196B-5P	100.00	68.16	681
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-12118	100.00	65.88	1270
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-3173-3P	99.98	66.49	1217

Literature-anchored findings (GeneRIF, showing 3)

• The authors present an overview of the LHFP gene family in mouse and humans (PMID:15905332)
• Results report evidence for the existence of variants in LHFPL2 and TPM1 with low allele frequencies and large effects on age-at-onset of familial Parkinson’s disease. (PMID:27402877)
• LHFPL2 Serves as a Potential Biomarker for M2 Polarization of Macrophages in Renal Cell Carcinoma. (PMID:38928412)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	lhfpl2a	ENSDARG00000009653
danio_rerio	lhfpl2b	ENSDARG00000098153
mus_musculus	Lhfpl2	ENSMUSG00000045312
rattus_norvegicus	Lhfpl2	ENSRNOG00000011032
drosophila_melanogaster	CG3770	FBGN0035085

Paralogs (6): LHFPL4 (ENSG00000156959), LHFPL1 (ENSG00000182508), LHFPL6 (ENSG00000183722), LHFPL3 (ENSG00000187416), LHFPL5 (ENSG00000197753), LHFPL7 (ENSG00000206069)

Protein

Protein identifiers

LHFPL tetraspan subfamily member 2 protein — Q6ZUX7 (reviewed: Q6ZUX7)

Alternative names: Lipoma HMGIC fusion partner-like 2 protein

All UniProt accessions (1): Q6ZUX7

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in female and male fertility. Involved in distal reproductive tract development.

Subcellular location. Membrane.

Tissue specificity. Expressed in all tissues and cell lines examined except brain and peripheral blood leukocytes.

Similarity. Belongs to the LHFP family.

RefSeq proteins (1): NP_005770* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR019372	LHFPL	Family

Pfam: PF10242

UniProt features (7 total): transmembrane region 4, chain 1, sequence variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6ZUX7-F1	83.55	0.44

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-114608	Platelet degranulation
R-HSA-109582	Hemostasis
R-HSA-76002	Platelet activation, signaling and aggregation
R-HSA-76005	Response to elevated platelet cytosolic Ca2+

MSigDB gene sets: 294 (showing top): VERHAAK_AML_WITH_NPM1_MUTATED_DN, GOBP_SINGLE_FERTILIZATION, GOBP_POSITIVE_REGULATION_OF_REPRODUCTIVE_PROCESS, GOCC_SECRETORY_GRANULE, REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION, GCANCTGNY_MYOD_Q6, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, CAGCTG_AP4_Q5, BILD_HRAS_ONCOGENIC_SIGNATURE, ONKEN_UVEAL_MELANOMA_UP, RUTELLA_RESPONSE_TO_CSF2RB_AND_IL4_UP, DACOSTA_UV_RESPONSE_VIA_ERCC3_COMMON_DN, GOBP_REGULATION_OF_REPRODUCTIVE_PROCESS, GENTILE_UV_HIGH_DOSE_DN, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_5

GO Biological Process (4): single fertilization (GO:0007338), development of primary female sexual characteristics (GO:0046545), development of primary male sexual characteristics (GO:0046546), positive regulation of fertilization (GO:1905516)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (3): plasma membrane (GO:0005886), membrane (GO:0016020), platelet alpha granule membrane (GO:0031092)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Response to elevated platelet cytosolic Ca2+	1
Hemostasis	1
Platelet activation, signaling and aggregation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
fertilization	2
development of primary sexual characteristics	2
female sex differentiation	1
male sex differentiation	1
regulation of fertilization	1
positive regulation of reproductive process	1
binding	1
membrane	1
cell periphery	1
cellular anatomical structure	1
secretory granule membrane	1
platelet alpha granule	1

Protein interactions and networks

STRING

546 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
LHFPL2	RNF182	Q8N6D2	477
LHFPL2	TBC1D30	Q9Y2I9	477
LHFPL2	TMEM86A	Q8N2M4	463
LHFPL2	F5H6H0	F5H6H0	463
LHFPL2	OCIAD2	Q56VL3	457
LHFPL2	RASSF2	P50749	437
LHFPL2	NRIP3	Q9NQ35	432
LHFPL2	DUSP3	P51452	424
LHFPL2	ARHGAP12	Q8IWW6	415
LHFPL2	SDR39U1	Q9NRG7	412
LHFPL2	TMEM51	Q9NW97	392
LHFPL2	SPATA31E1	Q6ZUB1	391
LHFPL2	TRMT2A	Q8IZ69	380
LHFPL2	LZTS2	Q9BRK4	373
LHFPL2	SLC39A6	Q13433	357

IntAct

33 interactions, top by confidence:

A	B	Type	Score
TMEM147	LHFPL2	psi-mi:“MI:0915”(physical association)	0.560
SNORC	LHFPL2	psi-mi:“MI:0915”(physical association)	0.560
GJB1	LHFPL2	psi-mi:“MI:0915”(physical association)	0.560
LHFPL2	FXYD6	psi-mi:“MI:0915”(physical association)	0.560
LHFPL2	GPR152	psi-mi:“MI:0915”(physical association)	0.560
TMEM128	LHFPL2	psi-mi:“MI:0915”(physical association)	0.560
GJA5	LHFPL2	psi-mi:“MI:0915”(physical association)	0.560
SCARF1	LHFPL2	psi-mi:“MI:0915”(physical association)	0.560
GAST	LHFPL2	psi-mi:“MI:0915”(physical association)	0.560
OLFM4	LHFPL2	psi-mi:“MI:0915”(physical association)	0.560
LHFPL2	TMEM147	psi-mi:“MI:0915”(physical association)	0.560
LHFPL2	SRC	psi-mi:“MI:0914”(association)	0.350
LHFPL2	IFNGR1	psi-mi:“MI:0914”(association)	0.350
LHFPL2	GJB1	psi-mi:“MI:0915”(physical association)	0.000
FXYD6	LHFPL2	psi-mi:“MI:0915”(physical association)	0.000
LHFPL2	GPR152	psi-mi:“MI:0915”(physical association)	0.000
TMEM128	LHFPL2	psi-mi:“MI:0915”(physical association)	0.000
LHFPL2	GJA5	psi-mi:“MI:0915”(physical association)	0.000
SCARF1	LHFPL2	psi-mi:“MI:0915”(physical association)	0.000
GAST	LHFPL2	psi-mi:“MI:0915”(physical association)	0.000
OLFM4	LHFPL2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (23): LHFPL2 (Two-hybrid), LHFPL2 (Two-hybrid), LHFPL2 (Two-hybrid), LHFPL2 (Two-hybrid), LHFPL2 (Two-hybrid), GJB1 (Two-hybrid), GPR152 (Two-hybrid), C2orf82 (Two-hybrid), GAST (Two-hybrid), GJA5 (Two-hybrid), PPP2R5D (Affinity Capture-MS), VMA21 (Affinity Capture-MS), THAP11 (Affinity Capture-MS), ATP2B4 (Affinity Capture-MS), VAMP3 (Affinity Capture-MS)

ESM2 similar proteins: A0A1D5NY17, A4IF75, B2RVY9, B3SHH9, F6V1J6, O42281, O70578, P19518, P97707, Q06432, Q08CE6, Q08DE1, Q0D289, Q0V9E0, Q14714, Q2MJQ7, Q4R4Z3, Q4V922, Q5CZV0, Q5PRC1, Q5RDV7, Q5XGU1, Q62147, Q66IV3, Q68FV0, Q6AZD1, Q6P0C6, Q6R5J2, Q6ZP80, Q6ZUX7, Q7ZZL8, Q86WI0, Q8BGA2, Q8NBL3, Q8VHW3, Q8VHW4, Q8VHW7, Q8VHW8, Q91Y55, Q925N4

Diamond homologs: Q5BJS2, Q5PRC1, Q6ICI0, Q6P0C6, Q6ZUX7, Q8BGA2, Q8BM86, Q9Y693

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	32
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
1073286	NC_000005.9:g.(?77385207)(78135259_?)del	Pathogenic

SpliceAI

3109 predictions. Top by Δscore:

Variant	Effect	Δscore
5:78509778:TCTTA:T	donor_loss	1.0000
5:78509779:CTTAC:C	donor_loss	1.0000
5:78509780:TTAC:T	donor_loss	1.0000
5:78509781:TACC:T	donor_loss	1.0000
5:78509783:C:CA	donor_loss	1.0000
5:78564809:TTAC:T	donor_loss	1.0000
5:78564810:TAC:T	donor_loss	1.0000
5:78564811:A:AC	donor_gain	1.0000
5:78564811:ACCT:A	donor_loss	1.0000
5:78564812:C:CC	donor_gain	1.0000
5:78564812:CCT:C	donor_gain	1.0000
5:78564867:GCCAC:G	acceptor_gain	1.0000
5:78564868:CCAC:C	acceptor_gain	1.0000
5:78564868:CCACC:C	acceptor_gain	1.0000
5:78564869:CAC:C	acceptor_gain	1.0000
5:78564869:CACC:C	acceptor_gain	1.0000
5:78564870:AC:A	acceptor_gain	1.0000
5:78564871:CC:C	acceptor_gain	1.0000
5:78564872:C:CC	acceptor_gain	1.0000
5:78564881:C:CT	acceptor_gain	1.0000
5:78489149:TAGAC:T	acceptor_gain	0.9900
5:78489151:GAC:G	acceptor_gain	0.9900
5:78489154:C:A	acceptor_loss	0.9900
5:78489154:C:CC	acceptor_gain	0.9900
5:78489155:T:A	acceptor_loss	0.9900
5:78514546:AGATC:A	donor_gain	0.9900
5:78528988:TTAAA:T	donor_gain	0.9900
5:78564811:AC:A	donor_gain	0.9900
5:78564812:CC:C	donor_gain	0.9900
5:78564812:CCTA:C	donor_gain	0.9900

AlphaMissense

1492 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:78489136:C:G	G150R	1.000
5:78510163:A:C	S17R	1.000
5:78510163:A:T	S17R	1.000
5:78510165:T:G	S17R	1.000
5:78510177:A:G	W13R	1.000
5:78510177:A:T	W13R	1.000
5:78488988:G:T	A199D	0.999
5:78489013:C:G	G191R	0.999
5:78489047:G:C	C179W	0.999
5:78489084:C:T	C167Y	0.999
5:78489112:A:G	W158R	0.999
5:78489112:A:T	W158R	0.999
5:78489135:C:T	G150D	0.999
5:78509784:C:G	G144R	0.999
5:78509804:C:T	G137E	0.999
5:78509815:G:C	F133L	0.999
5:78509815:G:T	F133L	0.999
5:78509817:A:G	F133L	0.999
5:78509895:C:G	G107R	0.999
5:78509895:C:T	G107R	0.999
5:78510115:C:A	W33C	0.999
5:78510115:C:G	W33C	0.999
5:78510117:A:G	W33R	0.999
5:78510117:A:T	W33R	0.999
5:78510200:A:T	I5N	0.999
5:78488962:C:G	A208P	0.998
5:78488971:C:G	A205P	0.998
5:78488990:A:C	C198W	0.998
5:78488991:C:T	C198Y	0.998
5:78488992:A:G	C198R	0.998

dbSNP variants (sampled 300 via entrez): RS1000009820 (5:78616220 G>A), RS1000053630 (5:78583606 T>C), RS1000058102 (5:78609425 T>C,G), RS1000062662 (5:78521562 A>G), RS1000110040 (5:78609648 G>A), RS1000115291 (5:78649195 A>G), RS1000180171 (5:78509327 G>T), RS1000198240 (5:78555931 T>A,C), RS1000202543 (5:78621008 C>T), RS1000216964 (5:78637737 G>A), RS1000271696 (5:78556218 G>A), RS1000274192 (5:78603753 C>A), RS1000287899 (5:78510362 A>C,G), RS1000304059 (5:78527100 T>C), RS1000310939 (5:78555435 T>A)

Disease associations

OMIM: gene MIM:609718 | disease phenotypes: MIM:253200

GenCC curated gene-disease

Mondo (1): mucopolysaccharidosis type 6 (MONDO:0009661)

Orphanet (1): Mucopolysaccharidosis type 6 (Orphanet:583)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

17 associations (top):

Study	Trait	p-value
GCST000461_21	Hippocampal atrophy	2.000000e-06
GCST002670_5	Blood and toenail selenium levels	5.000000e-14
GCST003652_1	Parkinson’s disease (familial, age at onset)	1.000000e-11
GCST004278_21	Pulse pressure	7.000000e-11
GCST004603_3	Platelet count	7.000000e-18
GCST004607_233	Plateletcrit	5.000000e-22
GCST004616_9	Platelet distribution width	2.000000e-15
GCST006976_41	Macular thickness	6.000000e-16
GCST007096_43	Pulse pressure	3.000000e-09
GCST007099_154	Systolic blood pressure	2.000000e-06
GCST007267_202	Systolic blood pressure	1.000000e-13
GCST007269_235	Pulse pressure	6.000000e-13
GCST008362_105	Birth weight	3.000000e-08
GCST009391_178	Metabolite levels	5.000000e-06
GCST90002400_690	Plateletcrit	2.000000e-15
GCST90002401_166	Platelet distribution width	9.000000e-50
GCST90002402_775	Platelet count	2.000000e-34

EFO canonical traits (9, from GWAS)

EFO ID	Trait name
EFO:0005039	hippocampal atrophy
EFO:0004847	age at onset
EFO:0005763	pulse pressure measurement
EFO:0004309	platelet count
EFO:0007985	platelet crit
EFO:0007984	platelet component distribution width
EFO:0006335	systolic blood pressure
EFO:0004344	birth weight
EFO:0010476	dimethylglycine measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D009087	Mucopolysaccharidosis VI	C16.320.565.202.715.670; C16.320.565.595.600.670; C17.300.550.575.670; C18.452.648.202.715.670; C18.452.648.595.600.670

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

40 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects cotreatment, increases methylation, increases expression	5
Benzo(a)pyrene	affects methylation, decreases expression	3
Cyclosporine	increases expression	2
Particulate Matter	affects cotreatment, increases abundance, increases expression	2
aristolochic acid I	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
2-bromopalmitate	decreases reaction, increases abundance, increases palmitoylation	1
CGP 52608	affects binding, increases reaction	1
perfluoro-n-nonanoic acid	increases expression	1
monomethylarsonous acid	increases expression	1
ICG 001	increases expression	1
bisphenol S	affects cotreatment, increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Acetaminophen	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Ethanol	affects cotreatment, increases abundance, increases expression	1
Atrazine	decreases expression	1
Benzene	increases expression	1
Cadmium	increases abundance, increases palmitoylation, decreases reaction	1
Calcitriol	increases expression, affects cotreatment	1
Dexamethasone	affects cotreatment, increases expression	1
Estradiol	affects cotreatment, increases expression	1
Gasoline	affects cotreatment, increases abundance, increases expression	1
Indomethacin	affects cotreatment, increases expression	1
N-Nitrosopyrrolidine	increases expression	1
Phenobarbital	affects expression	1
Piroxicam	increases expression	1
Polycyclic Aromatic Hydrocarbons	affects cotreatment, increases abundance, increases expression	1
Testosterone	affects cotreatment, increases expression	1
Tobacco Smoke Pollution	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00299000	PHASE4	COMPLETED	A Phase 4 Two Dose Level Study of Naglazyme(TM) (Galsulfase) in Infants With MPS VI
NCT00668564	PHASE2	TERMINATED	Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism
NCT01043640	PHASE2	COMPLETED	Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders
NCT02171104	PHASE2	ACTIVE_NOT_RECRUITING	MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis
NCT03632213	PHASE2	UNKNOWN	Evaluation of Losartan on Cardiovascular Disease in Patients With Mucopolysaccharidoses IV A and VI
NCT04532047	PHASE1	RECRUITING	PEARL (PrEnAtal Enzyme Replacement Therapy for Lysosomal Storage Disorders)
NCT02437253	PHASE1/PHASE2	COMPLETED	Effects of Adalimumab in Mucopolysaccharidosis Types I, II and VI
NCT03173521	PHASE1/PHASE2	COMPLETED	Gene Therapy in Patients With Mucopolysaccharidosis Disease
NCT05845749	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Safety and Efficacy of Voxzogo for Growth Deficits in MPS IVA and VI
NCT01387854	Not specified	COMPLETED	Observational Study of Patients With Mucopolysaccharidosis (MPS) VI Who Previously Participated in ASB-00-02
NCT01870375	Not specified	COMPLETED	Longitudinal Studies of Brain Structure and Function in MPS Disorders
NCT01938014	Not specified	COMPLETED	Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children
NCT01961518	Not specified	COMPLETED	Screening an Orthopedic Population for Mildly-affected Individuals With Morquio Syndrome A and Maroteaux-Lamy Syndrome
NCT02156674	Not specified	TERMINATED	Naglazyme After Allo Transplant for Maroteaux-Lamy Syndrome
NCT03655223	Not specified	ENROLLING_BY_INVITATION	Early Check: Expanded Screening in Newborns