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Atlas / Disease / Premenstrual dysphoric disorder

Premenstrual dysphoric disorder

disease
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Also known as PMDD

Summary

Premenstrual dysphoric disorder (MONDO:1010182) is a disease with 1 cohort gene and 34 clinical trials. Top therapeutic interventions include paroxetine, fluoxetine, and sertraline.

At a glance

  • Cohort genes: 1
  • ClinVar variants: 4
  • Clinical trials: 34

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

FieldValue
Canonical namepremenstrual dysphoric disorder
Mondo IDMONDO:1010182
UMLSC0520676
MedGen636161
Is cancer (heuristic)no

Also known as: PMDD

Data availability: 4 ClinVar variants.

Disease family

Classification path: disease › human disease › disease by body system or component › reproductive system disorder › female reproductive system disorder › menstrual disorder › premenstrual tension › premenstrual dysphoric disorder

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

4 retrieved; paginated sample, class counts are floors:

2 risk factor, 2 benign

ClinVarVariant (HGVS)GeneClassificationReview
916007GRCh37/hg19 5q34(chr5:160715688-160717804)GABRB2risk factorno assertion criteria provided
916011GRCh37/hg19 5q34(chr5:160796703-160797020)GABRB2risk factorno assertion criteria provided
916008GRCh37/hg19 5q34(chr5:160715688-160717804)GABRB2Benignno assertion criteria provided
916012GRCh37/hg19 5q34(chr5:160796703-160797020)GABRB2Benignno assertion criteria provided

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 1 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

GeneOrphanet IDRare disease
GABRB2Orphanet:442835Non-specific early-onset epileptic encephalopathy

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

SubsetGenes
multi_evidence1

Cohort genes (full)

SymbolHGNCEnsemblUniProtNameEvidence
GABRB2HGNC:4082ENSG00000145864P47870Gamma-aminobutyric acid receptor subunit beta-2clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

SymbolProtein nameFunction (lead sentence)
GABRB2Gamma-aminobutyric acid receptor subunit beta-2Beta subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain.

Protein-family classification

Druggable: 0 · Difficult: 0 · Unknown: 1 · Druggable fraction: 0.0

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
Other/Unknown11.8×0.558

Per-gene assignment

SymbolFamilyDruggable?ECInterPro (top 3)
GABRB2Other/UnknownnoGABAAb_rcpt, GABAA/Glycine_rcpt, Neurotrans-gated_channel_TM

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
Brodmann (1909) area 231
endothelial cell1
lateral nuclear group of thalamus1

Per-gene tissue summary (top 30)

SymbolBgee breadthFANTOM5 breadthSCXATop tissues
GABRB2198broadmarkerBrodmann (1909) area 23, endothelial cell, lateral nuclear group of thalamus

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

SymbolInteractor count
GABRB22,186

Structural data

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

Cohort genes with PDB structures (top 30)

SymbolUniProtPDB entries
GABRB2P4787031

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 2. 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
GABA receptor activation1317.2×0.004GABRB2
Signaling by ERBB41271.9×0.004GABRB2

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
cellular response to histamine12808.7×0.002GABRB2
inner ear receptor cell development12407.4×0.002GABRB2
innervation1887.0×0.003GABRB2
inhibitory synapse assembly1624.1×0.003GABRB2
gamma-aminobutyric acid signaling pathway1543.6×0.003GABRB2
synaptic transmission, GABAergic1495.6×0.003GABRB2
cochlea development1468.1×0.003GABRB2
chloride transmembrane transport1237.3×0.005GABRB2
chemical synaptic transmission177.3×0.013GABRB2

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
GABRB2CANNABIDIOL

Top cohort targets by molecule count

SymbolMoleculesMax phase
GABRB2474

Drugs targeting cohort genes (top 30)

MoleculeMax phaseTargets in cohort
CANNABIDIOL4GABRB2
ENZALUTAMIDE4GABRB2
DIAZEPAM4GABRB2
LIOTHYRONINE4GABRB2
GANAXOLONE4GABRB2
BREXANOLONE4GABRB2
APALUTAMIDE4GABRB2
FLUMAZENIL4GABRB2
CLONAZEPAM4GABRB2
FLUNITRAZEPAM4GABRB2
ZALEPLON4GABRB2
STIRIPENTOL4GABRB2
ZURANOLONE4GABRB2
PROPOFOL4GABRB2
ALPRAZOLAM4GABRB2
ETOMIDATE4GABRB2
ZOLPIDEM4GABRB2
ESZOPICLONE4GABRB2
PENTOBARBITAL4GABRB2
CANDESARTAN CILEXETIL4GABRB2
SIMVASTATIN4GABRB2
EPINASTINE4GABRB2
GLAFENINE4GABRB2
TIPRANAVIR4GABRB2
BENPERIDOL4GABRB2
ASENAPINE4GABRB2
TROGLITAZONE4GABRB2
CLOZAPINE4GABRB2
CHLORAMBUCIL4GABRB2
CRIZOTINIB4GABRB2

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

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

SymbolAssaysType breakdown
GABRB2549Binding:463, Functional:81, Toxicity:4, ADMET:1

Cohort genes with high screening signal

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

SymbolChEMBL assays
GABRB2549

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)
CANNABIDIOL4GABRB2
ENZALUTAMIDE4GABRB2
DIAZEPAM4GABRB2
LIOTHYRONINE4GABRB2
GANAXOLONE4GABRB2
BREXANOLONE4GABRB2
APALUTAMIDE4GABRB2
FLUMAZENIL4GABRB2
CLONAZEPAM4GABRB2
FLUNITRAZEPAM4GABRB2
ZALEPLON4GABRB2
STIRIPENTOL4GABRB2
ZURANOLONE4GABRB2
PROPOFOL4GABRB2
ALPRAZOLAM4GABRB2
ETOMIDATE4GABRB2
ZOLPIDEM4GABRB2
ESZOPICLONE4GABRB2
PENTOBARBITAL4GABRB2
CANDESARTAN CILEXETIL4GABRB2
SIMVASTATIN4GABRB2
EPINASTINE4GABRB2
GLAFENINE4GABRB2
TIPRANAVIR4GABRB2
BENPERIDOL4GABRB2
ASENAPINE4GABRB2
TROGLITAZONE4GABRB2
CLOZAPINE4GABRB2
CHLORAMBUCIL4GABRB2
CRIZOTINIB4GABRB2

Druggability pyramid

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

TierDefinitionGenesSymbols
AApproved (phase 4 drug)1GABRB2
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: 34.

Phase distribution (across all retrieved trials)

PhaseTrials
Not specified18
PHASE47
PHASE33
PHASE23
PHASE2/PHASE32
PHASE1/PHASE21

Top trials by phase / activity

NCTPhaseStatusTitle
NCT06704594PHASE4RECRUITINGAllopregnanolone and Dynamic GABA-A Receptor Plasticity in Selective Serotonin Reuptake Inhibitor Responsive Premenstrual Dysphoric Disorder
NCT00516113PHASE4COMPLETEDA Placebo-Controlled Study to Investigate the Onset of Action of Paroxetine in Premenstrual Dysphoria
NCT00536198PHASE4COMPLETEDEvaluating the Effectiveness of Sertraline in Treating Women With Premenstrual Dysphoric Disorder
NCT00678574PHASE4COMPLETEDThe Role of GABA and Neurosteroids in Premenstrual Dysphoric Disorder
NCT00927095PHASE4COMPLETEDContinuous Oral Contraceptive Treatment in Premenstrual Dysphoric Disorder (PMDD)
NCT02777372PHASE4COMPLETEDStress & Premenstrual Symptoms Study
NCT04123483PHASE4WITHDRAWNEnBrace HR for PMS With Prominent Mood Symptoms or Menstrual Related Mood Disorders
NCT00620581PHASE3COMPLETEDLuteal Phase Administration of Paroxetine for the Treatment of PMDD
NCT00824187PHASE3COMPLETEDYAZ Premenstrual Dysphoric Disorder (PMDD) in China
NCT01217775PHASE3UNKNOWNIntranasal PH80 Spray for Acute Management of the Symptoms of Premenstrual Dysphoric Disorder
NCT02508103PHASE2/PHASE3COMPLETEDEmotional Processing and Oxytocin Mechanisms in Premenstrual Dysphoric Disorder: A Pilot Study
NCT06227676PHASE2/PHASE3COMPLETEDEffect of ‘Cramp Bites’ on Period Cramps in Women Aged 18-25
NCT00089414PHASE2TERMINATEDTreatment of Menstrually Related Disorders With Continuous v. Interrupted Oral Contraceptives
NCT01875718PHASE1/PHASE2COMPLETEDA Phase I/II Study to Evaluate UC1010 Treatment in Premenstrual Dysphoric Disorder (PMDD)
NCT03697265PHASE2COMPLETEDA Study of Efficacy and Safety of Sepranolone (UC1010) in Patients With Premenstrual Dysphoric Disorder (PMDD)
NCT05098574PHASE2COMPLETEDOral Contraceptives for Treating Premenstrual Dysphoric Disorder in Bipolar Disorder
NCT06130371Not specifiedRECRUITINGStress, Inflammation and Neuroimaging in Major Depressive Disorder as Compared to Premenstrual Dysphoric Disorder
NCT06462391Not specifiedACTIVE_NOT_RECRUITINGAdapting and Piloting Acceptance and Commitment Therapy (ACT) for Severe Premenstrual Mood Symptoms
NCT06496139Not specifiedRECRUITINGEmotion Regulation-based Internet-delivered Cognitive Behavioural Therapy for Premenstrual Dysphoric Disorder
NCT06648382Not specifiedRECRUITINGPilot Study of the ‘Thriving With PMDs’ Program
NCT06771583Not specifiedRECRUITINGIdentification and Validation of Epigenetic Biomarkers of PMDD
NCT07189299Not specifiedNOT_YET_RECRUITINGMicrodosing LSD in Women With Premenstrual Disorders
NCT07554950Not specifiedNOT_YET_RECRUITINGEvaluating the Impact of Psychoeducation and Sleep-informed Workshop Targeting Sleep Concerns in Women and Individuals With Premenstrual Dysphoric Disorder
NCT00518570Not specifiedCOMPLETEDLevetiracetam in the Treatment of Patients With Premenstrual Dysphoric Disorder (PMDD)
NCT01385709Not specifiedCOMPLETEDThe Influence of the Menstrual Cycle on Lithium and Sertraline Blood Levels
NCT01799733Not specifiedCOMPLETEDAlternative Treatments for Premenstrual Dysphoric Disorder
NCT01945372Not specifiedUNKNOWNNeurofeedback Treatment of Affective Instability in Premenstrual Dysphoric Disorder(PMDD)
NCT02362191Not specifiedTERMINATEDTargeting Inter-Hemispheric Alpha Coherence With tACS To Treat PMDD
NCT02448836Not specifiedUNKNOWNDeep Transcranial Magnetic Stimulation (dTMS) for the Treatment of Premenstrual Dysphoric Disorder (PMDD)
NCT03449979Not specifiedCOMPLETEDSingle Session of tACS in a Depressive Episode
NCT03862469Not specifiedCOMPLETEDPremenstrual Hormonal and Affective State Evaluation (PHASE) Project
NCT05327075Not specifiedUNKNOWNPremenstrual Dysphoric Disorder:Knowledge,Attitude and Practice Among Egyptian Females
NCT05813366Not specifiedUNKNOWNCombined Effect of Tryptophan Rich Diet and Acupuncture on Depression Related to Premenstrual Dysphoric Disorder
NCT06136104Not specifiedCOMPLETEDThe Effects of Mixhers HERTIME Supplements on Menstrual Symptoms

Drugs tested across these trials (top 30)

MoleculeMax phaseTrials referencing
PAROXETINE44
FLUOXETINE43
SERTRALINE42
DROSPIRENONE41
ETHINYL ESTRADIOL41
OXYTOCIN41
SEPRANOLONE22
LYSERGIDE21
CHEMBL178836102
CHEMBL430335801

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
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Sources 67

This page pulls from 67 datasets indexed by BioBTree:

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