WNT6

gene
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Summary

WNT6 (Wnt family member 6, HGNC:12785) is a protein-coding gene on chromosome 2q35, encoding Protein Wnt-6 (Q9Y6F9). Ligand for members of the frizzled family of seven transmembrane receptors.

The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It is overexpressed in cervical cancer cell line and strongly coexpressed with another family member, WNT10A, in colorectal cancer cell line. The gene overexpression may play key roles in carcinogenesis. This gene and the WNT10A gene are clustered in the chromosome 2q35 region. The protein encoded by this gene is 97% identical to the mouse Wnt6 protein at the amino acid level.

Source: NCBI Gene 7475 — RefSeq curated summary.

At a glance

  • GWAS associations: 5
  • Clinical variants (ClinVar): 48 total — 1 pathogenic
  • MANE Select transcript: NM_006522

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:12785
Approved symbolWNT6
NameWnt family member 6
Location2q35
Locus typegene with protein product
StatusApproved
Ensembl geneENSG00000115596
Ensembl biotypeprotein_coding
OMIM604663
Entrez7475

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000233948, ENST00000486233

RefSeq mRNA: 1 — MANE Select: NM_006522 NM_006522

CCDS: CCDS2425

Canonical transcript exons

ENST00000233948 — 4 exons

ExonStartEnd
ENSE00000922341218871027218871247
ENSE00000922342218871485218871819
ENSE00000922343218873384218874233
ENSE00001075206218859805218860117

Expression profiles

Bgee: expression breadth ubiquitous, 152 present calls, max score 96.46.

FANTOM5 (CAGE): breadth broad, TPM avg 1.3048 / max 115.2853, expressed in 307 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter IDTPM avgSamples expressed
254020.5114181
254030.4817183
254010.311798

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
endometrium epitheliumUBERON:000481196.46gold quality
tibial nerveUBERON:000132386.76gold quality
Brodmann (1909) area 10UBERON:001354183.01gold quality
frontal poleUBERON:000279582.84gold quality
sural nerveUBERON:001548882.31gold quality
middle frontal gyrusUBERON:000270280.30gold quality
paraflocculusUBERON:000535180.09gold quality
putamenUBERON:000187476.07gold quality
apex of heartUBERON:000209875.20gold quality
caudate nucleusUBERON:000187374.38gold quality
muscle layer of sigmoid colonUBERON:003580574.15gold quality
deciduaUBERON:000245074.06gold quality
cerebellar vermisUBERON:000472072.46gold quality
spleenUBERON:000210671.17gold quality
olfactory bulbUBERON:000226471.10gold quality
sigmoid colonUBERON:000115970.99gold quality
skeletal muscle tissue of rectus abdominisUBERON:000451170.67gold quality
nucleus accumbensUBERON:000188270.32gold quality
lower esophagus muscularis layerUBERON:003583370.23gold quality
lower esophagusUBERON:001347370.12gold quality
tongue squamous epitheliumUBERON:000691970.00gold quality
mucosa of stomachUBERON:000119969.96gold quality
esophagogastric junction muscularis propriaUBERON:003584169.79gold quality
endocervixUBERON:000045868.49gold quality
ectocervixUBERON:001224967.75gold quality
heart left ventricleUBERON:000208467.49gold quality
triceps brachiiUBERON:000150967.12gold quality
cardiac ventricleUBERON:000208267.06gold quality
left uterine tubeUBERON:000130367.01gold quality
gluteal muscleUBERON:000200066.92gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

ExperimentMarker?Max mean expression
E-ANND-3no1.75

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): FOXA2, GATA6

miRNA regulators (miRDB)

11 targeting WNT6, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-311999.9271.342390
HSA-MIR-3180-5P99.8269.122422
HSA-MIR-453099.6966.471509
HSA-MIR-1207-5P99.4969.112983
HSA-MIR-548G-3P99.4868.672159
HSA-MIR-6791-5P99.1665.921844
HSA-MIR-429299.1665.571767
HSA-MIR-4763-3P99.1067.832649
HSA-MIR-6784-3P98.3964.88662
HSA-MIR-6862-3P97.9264.86531
HSA-MIR-286195.2465.471056

Literature-anchored findings (GeneRIF, showing 17)

  • Wnt6 plays an important role in tooth development by promoting human dental papilla cell differentiation, without significant effects on cell proliferation. (PMID:20113781)
  • The WNT6 rs6747776 homozygous minor allele (CC) was associated with increased risk of colorectal adenoma. (PMID:21547848)
  • WNT6 and Cav1 are upregulated by chemotherapeutics and enhance the resistance of GC cells to anthracycline drugs (PMID:22370641)
  • WNT6 activates the JNK signaling pathway in HDPCs, leading to migration and differentiation. (PMID:24935540)
  • analysis of missense mutation in WNT6 in couples with unexplained recurrent miscarriage (PMID:25750203)
  • our results support the concept that WNT6 may play a role in tumor progression (PMID:26617869)
  • The authors show that WNT6 is significantly overexpressed in glioblastoma, as compared to lower-grade gliomas and normal brain, at mRNA and protein levels. Functionally, WNT6 increases typical oncogenic activities in glioblastoma cells, including viability, proliferation, glioma stem cell capacity, invasion, migration, and resistance to temozolomide chemotherapy. (PMID:30279739)
  • WNT6 may be a diagnostic and prognostic marker in osteosarcoma (PMID:30431574)
  • Study results indicated that PLAGL2 was overexpressed in colorectal cancer (CRC) as a protooncogene and that it could active the Wnt/betacatenin pathway as a transcription factor by binding with the promoter region of Wnt6. (PMID:30535429)
  • Secreted Wnt6 binds to FZD4 to activate the canonical Wnt6 signaling pathway, which is upstream of ROCK1 and 14-3-3sigma, and that this is the cell signaling pathway underlying diabetes-associated centrosome amplification. (PMID:31618077)
  • A novel molecular link between HOXA9 and WNT6 in glioblastoma identifies a subgroup of patients with particular poor prognosis. (PMID:31923345)
  • MiR-566 protects the malignant progression of breast cancer by negatively regulating WNT6. (PMID:32572884)
  • Wnt6 plays a complex role in maintaining human limbal stem/progenitor cells. (PMID:34686698)
  • Wnt4, Wnt6 and beta-catenin expression in human placental tissue - is there a link with first trimester miscarriage? Results from a pilot study. (PMID:35300692)
  • The glycoprotein Wnt6 regulates human dental papilla cells differentiation by canonical Wnt signaling pathway. (PMID:35691114)
  • WNT6 participates in the occurrence and development of ovarian cancer by upregulating/activating the typical Wnt pathway and Notch1 signaling pathway. (PMID:36075327)
  • The investigation of WNT6 and WNT10A single nucleotide polymorphisms as potential biomarkers for dental pulp calcification in orthodontic patients. (PMID:37566620)

Cross-species orthologs

4 orthologs

OrganismSymbolGene ID
danio_reriownt6bENSDARG00000073935
mus_musculusWnt6ENSMUSG00000033227
rattus_norvegicusWnt6ENSRNOG00000017409
drosophila_melanogasterWnt6FBGN0031902

Paralogs (18): WNT16 (ENSG00000002745), WNT8A (ENSG00000061492), WNT8B (ENSG00000075290), WNT11 (ENSG00000085741), WNT2 (ENSG00000105989), WNT3 (ENSG00000108379), WNT5B (ENSG00000111186), WNT5A (ENSG00000114251), WNT1 (ENSG00000125084), WNT2B (ENSG00000134245), WNT10A (ENSG00000135925), WNT9A (ENSG00000143816), WNT3A (ENSG00000154342), WNT7A (ENSG00000154764), WNT9B (ENSG00000158955), WNT4 (ENSG00000162552), WNT10B (ENSG00000169884), WNT7B (ENSG00000188064)

Protein

Protein identifiers

Protein Wnt-6Q9Y6F9 (reviewed: Q9Y6F9)

All UniProt accessions (1): Q9Y6F9

UniProt curated annotations — full annotation on UniProt →

Function. Ligand for members of the frizzled family of seven transmembrane receptors. Probable developmental protein. May be a signaling molecule which affects the development of discrete regions of tissues. Is likely to signal over only few cell diameters. Together with CAV1 may promote chemoresistance of gastric cancer cells to DNA-damaging anthracycline drugs through the activation of the canonical Wnt receptor signaling pathway.

Subunit / interactions. Interacts with PORCN.

Subcellular location. Secreted. Extracellular space. Extracellular matrix.

Tissue specificity. Expressed in gastric cancer cell lines and gastric cancer tissues (at protein level). Detected in the apical gland region of the gastric foveolar epithelium (at protein level).

Post-translational modifications. Palmitoleoylation is required for efficient binding to frizzled receptors. Depalmitoleoylation leads to Wnt signaling pathway inhibition.

Similarity. Belongs to the Wnt family.

RefSeq proteins (1): NP_006513* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR005817WntFamily
IPR009143Wnt6Family
IPR018161Wnt_CSConserved_site
IPR043158Wnt_CHomologous_superfamily

Pfam: PF00110

UniProt features (18 total): disulfide bond 11, glycosylation site 2, signal peptide 1, chain 1, region of interest 1, compositionally biased region 1, lipid moiety-binding region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q9Y6F9-F183.620.63

Functional residue map

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

Post-translational modifications (1): 228

Disulfide bonds (11): 222–236, 224–231, 294–325, 310–320, 324–364, 340–355, 342–352, 347–348, 76–87, 124–132, 134–172

Glycosylation sites (2): 86, 311

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

IDPathway
R-HSA-3238698WNT ligand biogenesis and trafficking
R-HSA-373080Class B/2 (Secretin family receptors)

MSigDB gene sets: 224 (showing top): GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, RNGTGGGC_UNKNOWN, GOBP_EPITHELIUM_DEVELOPMENT, BENPORATH_ES_WITH_H3K27ME3, GOBP_AXIS_SPECIFICATION, KEGG_HEDGEHOG_SIGNALING_PATHWAY, GOBP_CELLULAR_RESPONSE_TO_LIPID, GCANCTGNY_MYOD_Q6, XU_HGF_TARGETS_REPRESSED_BY_AKT1_DN, GOCC_CELL_SURFACE, GOBP_NEUROGENESIS, TAL1ALPHAE47_01, GOBP_KIDNEY_EPITHELIUM_DEVELOPMENT, GOBP_TOOTH_MINERALIZATION, GGGTGGRR_PAX4_03

GO Biological Process (16): branching involved in ureteric bud morphogenesis (GO:0001658), axis specification (GO:0009798), positive regulation of gene expression (GO:0010628), neuron differentiation (GO:0030182), odontogenesis of dentin-containing tooth (GO:0042475), cell fate commitment (GO:0045165), positive regulation of DNA-templated transcription (GO:0045893), canonical Wnt signaling pathway (GO:0060070), epithelial-mesenchymal cell signaling (GO:0060684), cornea development in camera-type eye (GO:0061303), positive regulation of tooth mineralization (GO:0070172), cellular response to retinoic acid (GO:0071300), nephron tubule formation (GO:0072079), multicellular organism development (GO:0007275), Wnt signaling pathway (GO:0016055), nephron tubule development (GO:0072080)

GO Molecular Function (3): frizzled binding (GO:0005109), cytokine activity (GO:0005125), signaling receptor binding (GO:0005102)

GO Cellular Component (9): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), endoplasmic reticulum lumen (GO:0005788), Golgi lumen (GO:0005796), plasma membrane (GO:0005886), cell surface (GO:0009986), endocytic vesicle membrane (GO:0030666), extracellular matrix (GO:0031012), extracellular exosome (GO:0070062)

Reactome top-level categories

Rollup of top-2 pathways:

CategoryPathways
Signaling by WNT1
GPCR ligand binding1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cell differentiation2
anatomical structure development2
cellular anatomical structure2
intracellular organelle lumen2
branching morphogenesis of an epithelial tube1
ureteric bud morphogenesis1
pattern specification process1
gene expression1
regulation of gene expression1
positive regulation of macromolecule biosynthetic process1
generation of neurons1
odontogenesis1
cellular developmental process1
DNA-templated transcription1
regulation of DNA-templated transcription1
positive regulation of RNA biosynthetic process1
Wnt signaling pathway1
cell-cell signaling1
camera-type eye development1
tooth mineralization1
positive regulation of biomineral tissue development1
regulation of tooth mineralization1
response to retinoic acid1
cellular response to lipid1
cellular response to oxygen-containing compound1
embryonic epithelial tube formation1
nephron tubule morphogenesis1
multicellular organismal process1
cell surface receptor signaling pathway1
renal tubule development1
nephron epithelium development1
G protein-coupled receptor binding1
receptor ligand activity1
protein binding1
endoplasmic reticulum1
Golgi apparatus1
membrane1
cell periphery1
endocytic vesicle1
cytoplasmic vesicle membrane1

Protein interactions and networks

STRING

1250 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
WNT6DKK2Q9UBU2874
WNT6DKK3Q9UBP4865
WNT6FZD2Q14332864
WNT6DKK4Q9UBT3860
WNT6DKK1O94907847
WNT6LRP5O75197814
WNT6FZD9O00144787
WNT6FZD4Q9ULV1762
WNT6FZD1Q9UP38753
WNT6FZD5Q13467748
WNT6FZD3Q9NPG1724
WNT6SFRP1Q8N474719
WNT6LRP6O75581706
WNT6FZD6O60353697
WNT6FZD7O75084691

IntAct

6 interactions, top by confidence:

ABTypeScore
NOTCH2ZNF316psi-mi:“MI:0914”(association)0.530
WNT6CHEK1psi-mi:“MI:0914”(association)0.350
C1orf54QSOX1psi-mi:“MI:0914”(association)0.350
LYPD1ADAM10psi-mi:“MI:0914”(association)0.350
PATE1AGRNpsi-mi:“MI:0914”(association)0.350
WNT3ALRP5psi-mi:“MI:0914”(association)0.350

BioGRID (7): WNT6 (Reconstituted Complex), WNT6 (Co-localization), SEC11A (Affinity Capture-MS), SPCS1 (Affinity Capture-MS), SEC11C (Affinity Capture-MS), SPCS2 (Affinity Capture-MS), CHEK1 (Affinity Capture-MS)

ESM2 similar proteins: D3Z7H8, D3ZE55, D3ZT86, G7PWZ3, O00634, O08644, O15197, O15230, O88516, O88671, O95206, P00744, P07204, P0C0K6, P0C0K7, P20863, P22727, P24347, P27539, P43029, P58459, P98161, P98167, Q04912, Q2PC93, Q3UH93, Q3UQ22, Q5IJ48, Q5JZY3, Q5W7P8, Q61001, Q6MG84, Q71U07, Q76LX8, Q7TSK3, Q80YA8, Q86UP0, Q8BYG9, Q8TE56, Q8WTR8

Diamond homologs: A0M8S1, A0M8T2, A1X153, A4D7S0, B2GUT4, O00755, O13267, O15978, O42122, O70283, P04426, P04628, P09544, P09615, P10108, P17553, P21551, P21552, P22724, P22725, P22726, P22727, P24257, P24383, P27467, P28047, P28465, P31285, P31286, P33945, P34888, P34889, P41221, P43446, P47793, P49337, P49338, P49339, P49340, P49893

SIGNOR signaling

6 interactions.

AEffectBMechanism
WNT6up-regulatesFZD3binding
WNT6up-regulatesLRP5binding
WNT6up-regulatesCTNNB1
WNT6up-regulatesMYOD1
WNT6up-regulatesMYF5

Disease & clinical

Cancer significance

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic1
Likely pathogenic0
Uncertain significance41
Likely benign4
Benign0

Top pathogenic / likely-pathogenic (1)

Variant IDHGVSClassification
1459325NC_000002.11:g.(?219646906)(219738567_?)delPathogenic

SpliceAI

634 predictions. Top by Δscore:

VariantEffectΔscore
2:218871023:CCA:Cacceptor_loss1.0000
2:218871024:CA:Cacceptor_loss1.0000
2:218871025:A:AGacceptor_gain1.0000
2:218871025:AG:Aacceptor_gain1.0000
2:218871025:AGG:Aacceptor_gain1.0000
2:218871026:G:GGacceptor_gain1.0000
2:218871026:GG:Gacceptor_gain1.0000
2:218871026:GGG:Gacceptor_gain1.0000
2:218871026:GGGC:Gacceptor_gain1.0000
2:218871026:GGGCT:Gacceptor_gain1.0000
2:218871230:G:GTdonor_gain1.0000
2:218871246:GG:Gdonor_gain1.0000
2:218871247:GG:Gdonor_gain1.0000
2:218871483:A:AGacceptor_gain1.0000
2:218871484:G:GAacceptor_gain1.0000
2:218871484:GAC:Gacceptor_gain1.0000
2:218871815:GGCTG:Gdonor_gain1.0000
2:218871816:GCTGG:Gdonor_gain1.0000
2:218871023:CCAGG:Cacceptor_gain0.9900
2:218871024:CAGG:Cacceptor_gain0.9900
2:218871025:AGGG:Aacceptor_gain0.9900
2:218871243:ACAGG:Adonor_gain0.9900
2:218871245:AGGG:Adonor_loss0.9900
2:218871247:GGT:Gdonor_loss0.9900
2:218871248:G:GGdonor_gain0.9900
2:218871248:G:Tdonor_gain0.9900
2:218871248:GT:Gdonor_loss0.9900
2:218871249:T:Gdonor_loss0.9900
2:218871479:TCACA:Tacceptor_loss0.9900
2:218871480:CACA:Cacceptor_loss0.9900

AlphaMissense

2329 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
2:218871201:G:CW85C1.000
2:218871201:G:TW85C1.000
2:218873777:T:CF344L1.000
2:218873778:T:GF344C1.000
2:218873779:C:AF344L1.000
2:218873779:C:GF344L1.000
2:218873785:G:CW346C1.000
2:218873785:G:TW346C1.000
2:218871199:T:AW85R0.999
2:218871199:T:CW85R0.999
2:218871562:G:TG127C0.999
2:218871690:G:CW169C0.999
2:218871690:G:TW169C0.999
2:218871801:C:AN206K0.999
2:218871801:C:GN206K0.999
2:218871811:G:TG210C0.999
2:218873416:A:CK223N0.999
2:218873416:A:TK223N0.999
2:218873417:T:AC224S0.999
2:218873418:G:CC224S0.999
2:218873458:G:CW237C0.999
2:218873458:G:TW237C0.999
2:218873475:T:GF243C0.999
2:218873625:T:GF293C0.999
2:218873771:T:AC342S0.999
2:218873772:G:CC342S0.999
2:218873778:T:CF344S0.999
2:218871172:T:AC76S0.998
2:218871173:G:CC76S0.998
2:218871206:G:AC87Y0.998

dbSNP variants (sampled 300 via entrez): RS1000805740 (2:218870565 G>A,T), RS1000900154 (2:218861142 G>C), RS1000925958 (2:218861510 T>C), RS1000939744 (2:218870300 A>G), RS1000974096 (2:218874646 G>A), RS1001088908 (2:218867508 G>A), RS1001128147 (2:218863771 C>A,T), RS1001140940 (2:218872294 G>C), RS1001269714 (2:218867744 C>T), RS1001276552 (2:218872048 G>T), RS1001373465 (2:218865544 C>A,T), RS1001433881 (2:218864008 G>T), RS1001638733 (2:218858787 A>G), RS1001874697 (2:218869316 A>C,G), RS1001897234 (2:218862463 A>T)

Disease associations

OMIM: gene MIM:604663 | disease phenotypes: MIM:213700, MIM:600057

GenCC curated gene-disease

Mondo (2): cerebrotendinous xanthomatosis (MONDO:0008948), bladder exstrophy-epispadias-cloacal exstrophy complex (MONDO:0700039)

Orphanet (2): Cerebrotendinous xanthomatosis (Orphanet:909), Classic bladder exstrophy (Orphanet:93930)

HPO phenotypes

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

GWAS associations

5 associations (top):

StudyTraitp-value
GCST006661_114Male-pattern baldness2.000000e-16
GCST008839_251Height4.000000e-09
GCST011345_32Triglyceride levels4.000000e-08
GCST011348_45High density lipoprotein cholesterol levels1.000000e-14
GCST90002405_2Reticulocyte count5.000000e-10

EFO canonical traits (3, from GWAS)

EFO IDTrait name
EFO:0004530triglyceride measurement
EFO:0004612high density lipoprotein cholesterol measurement
EFO:0007986reticulocyte count

MeSH disease descriptors (1)

DescriptorNameTree numbers
D019294Xanthomatosis, CerebrotendinousC16.320.565.398.925; C18.452.584.563.925; C18.452.584.750.975; C18.452.648.398.925

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

ChemicalActions (top 5)PubMed papers
Valproic Acidaffects cotreatment, increases expression4
Tetrachlorodibenzodioxinincreases expression3
Acetaminophendecreases expression2
Benzo(a)pyreneincreases expression, increases methylation2
Phenylmercuric Acetateaffects cotreatment, increases expression2
p-Chloromercuribenzoic Acidaffects cotreatment, increases expression2
ETC-159decreases expression1
methyleugenoldecreases expression1
propionaldehydedecreases expression1
trichostatin Aincreases expression1
beta-lapachonedecreases expression1
sulforaphanedecreases expression1
tris(1,3-dichloro-2-propyl)phosphatedecreases expression1
sodium arseniteincreases expression1
S-(1,2-dichlorovinyl)cysteinedecreases expression, decreases reaction1
mercuric bromideaffects cotreatment, increases expression1
dinophysistoxin 1decreases expression1
CGP 52608affects binding, increases reaction1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideaffects cotreatment, increases expression1
abrinedecreases expression1
dorsomorphinincreases expression, affects cotreatment1
theaflavin-3,3’-digallateaffects expression1
2,3,5-trichloro-6-phenyl-(1,4)benzoquinonedecreases expression1
Panobinostataffects cotreatment, increases expression1
Microplasticsincreases abundance, increases expression1
Cadmiumincreases expression1
Diethylhexyl Phthalateincreases expression1
Formaldehydeincreases expression1
Hydrogen Peroxideaffects expression1
Lipopolysaccharidesdecreases expression, decreases reaction1

Cellosaurus cell lines

3 cell lines: 3 embryonic stem cell

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

CellosaurusNameCategorySex
CVCL_A7W3SEES3-1V human WNT6, clone1Embryonic stem cellMale
CVCL_A7W4SEES3-1V human WNT6, clone2Embryonic stem cellMale
CVCL_A7W5SEES3-1V human WNT6, clone3Embryonic stem cellMale

Clinical trials (associated diseases)

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

TrialPhaseStatusTitle
NCT04270682PHASE3COMPLETEDStudy to Evaluate Patients With Cerebrotendinous Xanthomatosis (RESTORE)
NCT00004346PHASE2UNKNOWNPhase II Study of Cholesterol- and Cholestanol-Free Diet, Lovastatin, and Chenodeoxycholic Acid for Cerebrotendinous Xanthomatosis
NCT00018694Not specifiedWITHDRAWNCholestanol in Humans
NCT00935389Not specifiedCOMPLETEDProspective Study of TW in the Treatment of LN Type V With Gross Proteinuria
NCT01613898Not specifiedUNKNOWNEvaluation of Carotid IMT and Atherogenic Risk Factors in Patients With Cerebrotendinous Xanthomatosis
NCT02638220Not specifiedCOMPLETEDCerebrotendinous Xanthomatosis (CTX) Prevalence Study
NCT02699190Not specifiedCOMPLETEDLeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies
NCT03047369Not specifiedRECRUITINGThe Myelin Disorders Biorepository Project
NCT03584893Not specifiedUNKNOWNThe Prevalence of CTX Disorder in Juvenile Cataract Cases in Turkey
NCT05368038Not specifiedENROLLING_BY_INVITATIONScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program