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Atlas / Disease / Blepharospasm-oromandibular dystonia syndrome

Blepharospasm-oromandibular dystonia syndrome

disease
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Also known as blepharospasm - oromandibular dystoniablepharospasm-oromandibular dystoniaBrueghel syndromeidiopathic blepharospasm-oromandibular dystonia syndromeMeige dystoniaMeige SyndromeMeige's syndromeoral facial dystoniasegmental cranial dystonia

Summary

Blepharospasm-oromandibular dystonia syndrome (MONDO:0019772) is a disease with 1 cohort gene and 5 clinical trials.

At a glance

  • Cohort genes: 1
  • ClinVar variants: 1
  • Clinical trials: 5

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

FieldValue
Canonical nameblepharospasm-oromandibular dystonia syndrome
Mondo IDMONDO:0019772
MeSHD008538
Orphanet93964
DOIDDOID:3982
SNOMED CT230325003
UMLSC0025183
MedGen44341
GARD0007008
NORD1425
Is cancer (heuristic)no

Also known as: blepharospasm - oromandibular dystonia · blepharospasm-oromandibular dystonia · Brueghel syndrome · idiopathic blepharospasm-oromandibular dystonia syndrome · Meige dystonia · Meige Syndrome · Meige syndrome · Meige’s syndrome · oral facial dystonia · segmental cranial dystonia

Data availability: 1 ClinVar variant.

Disease family

Classification path: disease › human disease › disease by body system or component › nervous system disorder › movement disorder › extrapyramidal and movement disease › dystonic disorder › inherited dystonia › isolated dystonia › focal, segmental or multifocal dystonia › blepharospasm-oromandibular dystonia syndrome

Related subtypes (11): torsion dystonia 4, torsion dystonia 2, torsion dystonia 13, torsion dystonia 17, dystonia 23, dystonia 24, dystonia 25, dystonia 27, oromandibular dystonia, infantile-onset generalized dyskinesia with orofacial involvement, adult-onset segmental dystonia

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

1 retrieved; paginated sample, class counts are floors:

1 uncertain significance

ClinVarVariant (HGVS)GeneClassificationReview
4075216NM_182925.5(FLT4):c.3538-5G>AFLT4Uncertain significancecriteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 2 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

GeneOrphanet IDRare disease
FLT4Orphanet:3303Tetralogy of Fallot
FLT4Orphanet:79452Milroy disease

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

SubsetGenes
multi_evidence1

Cohort genes (full)

SymbolHGNCEnsemblUniProtNameEvidence
FLT4HGNC:3767ENSG00000037280P35916Vascular endothelial growth factor receptor 3clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

SymbolProtein nameFunction (lead sentence)
FLT4Vascular endothelial growth factor receptor 3Tyrosine-protein kinase that acts as a cell-surface receptor for VEGFC and VEGFD, and plays an essential role in adult lymphangiogenesis and in the development of the vascular network and the cardiovascular system during embryonic developm…

Protein-family classification

Druggable: 1 · Difficult: 0 · Unknown: 0 · Druggable fraction: 1.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

FamilyGenesFoldFDR
Kinase127.7×0.036

Per-gene assignment

SymbolFamilyDruggable?ECInterPro (top 3)
FLT4Kinaseyes2.7.10.1Prot_kinase_dom, Ser-Thr/Tyr_kinase_cat_dom, Tyr_kinase_rcpt_3_CS

Expression context

Cohort genes with no expression data: 0.

1 cohort gene are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

BucketGenes
narrow (1-5 tissues)0
moderate (6-20)0
broad (>20)1
unknown0

Top tissues across cohort

TissueCohort genes
left lobe of thyroid gland1
right lobe of thyroid gland1
thyroid gland1

Per-gene tissue summary (top 30)

SymbolBgee breadthFANTOM5 breadthSCXATop tissues
FLT4172broadmarkerright lobe of thyroid gland, left lobe of thyroid gland, thyroid gland

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

SymbolInteractor count
FLT42,411

Structural data

PDB: 1 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

SymbolUniProtPDB entries
FLT4P359162

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 3. Enrichment computed across 1 evidence-associated genes (1 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

PathwayCohort genesFoldFDRSample cohort genes
VEGF binds to VEGFR leading to receptor dimerization11268.9×0.002FLT4
NOTCH4 Intracellular Domain Regulates Transcription1571.0×0.003FLT4
High laminar flow shear stress activates signaling by PIEZO1 and PECAM1:CDH5:KDR in endothelial cells1160.8×0.006FLT4

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO termCohort genesFoldFDRSample cohort genes
regulation of blood vessel remodeling15617.3×0.004FLT4
lymph vessel development11872.4×0.004FLT4
lymphangiogenesis11203.7×0.004FLT4
vasculature development11123.5×0.004FLT4
vascular endothelial growth factor signaling pathway11053.2×0.004FLT4
respiratory system process1936.2×0.004FLT4
blood vessel morphogenesis1802.5×0.004FLT4
cellular response to vascular endothelial growth factor stimulus1561.7×0.005FLT4
positive regulation of vascular endothelial growth factor production1495.6×0.005FLT4
sprouting angiogenesis1481.5×0.005FLT4
vascular endothelial growth factor receptor signaling pathway1481.5×0.005FLT4
peptidyl-tyrosine phosphorylation1421.3×0.005FLT4
lung alveolus development1351.1×0.005FLT4
positive regulation of protein phosphorylation1276.3×0.006FLT4
positive regulation of endothelial cell migration1251.5×0.007FLT4
positive regulation of endothelial cell proliferation1230.8×0.007FLT4
cell surface receptor protein tyrosine kinase signaling pathway1173.7×0.008FLT4
positive regulation of JNK cascade1163.6×0.008FLT4
protein autophosphorylation1145.3×0.009FLT4
positive regulation of ERK1 and ERK2 cascade185.1×0.015FLT4
positive regulation of MAPK cascade180.6×0.015FLT4
positive regulation of cell migration161.7×0.018FLT4
cell migration161.5×0.018FLT4
negative regulation of apoptotic process134.8×0.030FLT4
positive regulation of cell population proliferation133.6×0.030FLT4

Therapeutics

Drug target analysis

Approved (phase 4): 1 · Phase ≥3: 1 · Phased (≥1): 1 · Undrugged: 0

Druggability breadth: 1 of 1 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

SymbolExample approved molecule
FLT4FEDRATINIB

Top cohort targets by molecule count

SymbolMoleculesMax phase
FLT4724

Drugs targeting cohort genes (top 30)

MoleculeMax phaseTargets in cohort
FEDRATINIB4FLT4
TIVOZANIB4FLT4
LENVATINIB4FLT4
AXITINIB4FLT4
SORAFENIB4FLT4
INFIGRATINIB PHOSPHATE4FLT4
INFIGRATINIB4FLT4
REGORAFENIB4FLT4
ENTRECTINIB4FLT4
CABOZANTINIB4FLT4
VANDETANIB4FLT4
NINTEDANIB ESYLATE4FLT4
FILGOTINIB4FLT4
BRIGATINIB4FLT4
FRUQUINTINIB4FLT4
PAZOPANIB4FLT4
NINTEDANIB4FLT4
SUNITINIB4FLT4
ERLOTINIB4FLT4
QUIZARTINIB4FLT4
MIDOSTAURIN4FLT4
GEFITINIB4FLT4
VATALANIB3FLT4
LINIFANIB3FLT4
SEMAXANIB3FLT4
CEP-13473FLT4
ENZASTAURIN3FLT4
BRIVANIB3FLT4
SURUFATINIB3FLT4
CEDIRANIB3FLT4

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

SymbolAssaysType breakdown
FLT4717Binding:683, Functional:32, ADMET:2

Cohort enzymes (BRENDA EC)

SymbolEC numbersNames
FLT42.7.10.1receptor protein-tyrosine kinase

Cohort genes with high screening signal

≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.

SymbolChEMBL assays
FLT4717

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

30 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

CompoundMax phaseCohort target (bioactivity)
FEDRATINIB4FLT4
TIVOZANIB4FLT4
LENVATINIB4FLT4
AXITINIB4FLT4
SORAFENIB4FLT4
INFIGRATINIB PHOSPHATE4FLT4
INFIGRATINIB4FLT4
REGORAFENIB4FLT4
ENTRECTINIB4FLT4
CABOZANTINIB4FLT4
VANDETANIB4FLT4
NINTEDANIB ESYLATE4FLT4
FILGOTINIB4FLT4
BRIGATINIB4FLT4
FRUQUINTINIB4FLT4
PAZOPANIB4FLT4
NINTEDANIB4FLT4
SUNITINIB4FLT4
ERLOTINIB4FLT4
QUIZARTINIB4FLT4
MIDOSTAURIN4FLT4
GEFITINIB4FLT4
VATALANIB3FLT4
LINIFANIB3FLT4
SEMAXANIB3FLT4
CEP-13473FLT4
ENZASTAURIN3FLT4
BRIVANIB3FLT4
SURUFATINIB3FLT4
CEDIRANIB3FLT4

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

TierDefinitionGenesSymbols
AApproved (phase 4 drug)1FLT4
BPhased (≥1) drug, not yet approved0
CDruggable family + PDB, no drug0
DDruggable family + AlphaFold only, no drug0
EDifficult family or no structure, no drug0

Undrugged target profiles

0 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Clinical trials & evidence

Clinical trials

Clinical trials: 5.

Phase distribution (across all retrieved trials)

PhaseTrials
Not specified4
PHASE2/PHASE31

Top trials by phase / activity

NCTPhaseStatusTitle
NCT05618470PHASE2/PHASE3UNKNOWNWumeiwan Jiawei Fang Use in Patients With Blepharospasm
NCT03042962Not specifiedRECRUITINGBrain Networks in Dystonia
NCT06912282Not specifiedRECRUITINGBilateral Single-Electrode VO Combined With STN-DBS for Treating Meige Syndrome
NCT04618887Not specifiedUNKNOWNA Comparative Study of GPI’s DBS and Pallidotomy in the Treatment of Meige Syndrome
NCT06292559Not specifiedUNKNOWNA Comparison Between STN-DBS and GPi-DBS in Meige Syndrome Evaluated by Flexible Electrodes

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.2
BioBTree
v2.0.2

Sources 71

This page pulls from 71 datasets indexed by BioBTree:

alphafoldantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticscellosauruschembl_activitychembl_assaychembl_documentchembl_moleculechembl_targetcivic_evidenceclingen_dosageclinical_trialsclinvarctd_gene_interactiondepmapdiamond_similaritydoidefoensemblentrezesm2_similarityfantom5_genefantom5_promotergardgenccgenerifgogtopdbgtopdb_interactiongwasgwas_studyhgncintactinterpromedgenmeshmimmondomondochildmondoparentnordorphanetpatentpatent_compoundpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assayreactomerefseqrhearnacentralsctidscxa_expressionscxa_gene_experimentsignorstring_interactiontranscriptufeatureumlsuniprot