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Atlas / Disease / Menstrual cycle-dependent periodic fever

Menstrual cycle-dependent periodic fever

disease
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Also known as luteal-phase-dependent febrile episodeluteal-phase-dependent periodic fevermenstrual cycle-dependent febrile episodeperiodic fever, menstrual cycle dependentperiodic fever, menstrual cycle-dependent

Summary

Menstrual cycle-dependent periodic fever (MONDO:0044660) is a disease with 1 cohort gene.

At a glance

  • Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
  • Cohort genes: 1
  • ClinVar variants: 3

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

TypeClassValueGeographyValidation
Cases/families5WorldwideValidated
Point prevalence<1 / 1 000 000WorldwideValidated

Identifiers

Disease identifiers

FieldValue
Canonical namemenstrual cycle-dependent periodic fever
Mondo IDMONDO:0044660
OMIM614674
Orphanet498251
UMLSC3553418
MedGen766332
GARD0022017
Is cancer (heuristic)no

Also known as: luteal-phase-dependent febrile episode · luteal-phase-dependent periodic fever · menstrual cycle-dependent febrile episode · periodic fever, menstrual cycle dependent · periodic fever, menstrual cycle-dependent

Data availability: 3 ClinVar variants · 2 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by body system or component › reproductive system disorder › female reproductive system disorder › menstrual cycle-dependent periodic fever

Related subtypes (33): ectopic pregnancy, pelvic inflammatory disease, endosalpingiosis, vaginal disorder, prolapse of female genital organ, Allen-Masters syndrome, fallopian tube disorder, vulvar disease, uterine disorder, gynatresia, Bartholin duct cyst, ovarian disorder, hymen, imperforate, preterm premature rupture of the membranes, mammary-digital-nail syndrome, Asherman syndrome, uterine cervical aplasia and agenesis, longitudinal vaginal septum, transverse vaginal septum, polycystic ovaries-urethral sphincter dysfunction syndrome, granulomatous mastitis, vaginal atresia, mullerian aplasia, vulvovaginal gingival syndrome, isolated partial vaginal agenesis, female infertility, female reproductive system neoplasm, polyp of vulva, vulval varices, vulvodynia, Bartholin’s gland disease, delayed puberty, self-limited, menstrual 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

3 retrieved; paginated sample, class counts are floors:

2 conflicting classifications of pathogenicity, 1 uncertain significance

ClinVarVariant (HGVS)GeneClassificationReview
2655491NM_000524.4(HTR1A):c.709G>A (p.Gly237Arg)HTR1AConflicting classifications of pathogenicitycriteria provided, conflicting classifications
31658NM_000524.4(HTR1A):c.-480delHTR1AConflicting classifications of pathogenicitycriteria provided, conflicting classifications
2431430NM_000524.4(HTR1A):c.980_1039del (p.Arg327_Thr346del)HTR1AUncertain significancecriteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 2 · Orphanet: 1 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

GeneClassificationInheritanceDiseaseRecords
HTR1ALimitedAutosomal dominantmenstrual cycle-dependent periodic fever2

Orphanet rare-disease linkage (cohort genes)

GeneOrphanet IDRare disease
HTR1AOrphanet:498251Menstrual cycle-dependent periodic fever

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

SubsetGenes
multi_evidence1

Cohort genes (full)

SymbolHGNCEnsemblUniProtNameEvidence
HTR1AHGNC:5286ENSG00000178394P089085-hydroxytryptamine receptor 1Agencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

SymbolProtein nameFunction (lead sentence)
HTR1A5-hydroxytryptamine receptor 1AG-protein coupled receptor for 5-hydroxytryptamine (serotonin).

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
GPCR123.9×0.042

Per-gene assignment

SymbolFamilyDruggable?ECInterPro (top 3)
HTR1AGPCRyesGPCR_Rhodpsn, 5HT1A_rcpt, 5HT_rcpt

Expression context

Cohort genes with no expression data: 0.

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
cortical plate1
entorhinal cortex1
middle temporal gyrus1

Per-gene tissue summary (top 30)

SymbolBgee breadthFANTOM5 breadthSCXATop tissues
HTR1A66tissue_specificyesentorhinal cortex, middle temporal gyrus, cortical plate

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

SymbolInteractor count
HTR1A1,946

Structural data

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

Cohort genes with PDB structures (top 30)

SymbolUniProtPDB entries
HTR1AP0890830

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 6. 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
Serotonin receptors1951.7×0.006HTR1A
Amine ligand-binding receptors1346.1×0.009HTR1A
Class A/1 (Rhodopsin-like receptors)174.2×0.023HTR1A
GPCR ligand binding164.2×0.023HTR1A
Signaling by GPCR140.1×0.030HTR1A
Signal Transduction110.2×0.098HTR1A

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 serotonin secretion18426.0×0.002HTR1A
regulation of hormone secretion14213.0×0.002HTR1A
serotonin receptor signaling pathway11872.4×0.002HTR1A
adenylate cyclase-inhibiting serotonin receptor signaling pathway11685.2×0.002HTR1A
regulation of dopamine metabolic process11685.2×0.002HTR1A
serotonin metabolic process11685.2×0.002HTR1A
regulation of behavior11404.3×0.002HTR1A
regulation of vasoconstriction1802.5×0.002HTR1A
exploration behavior1648.1×0.003HTR1A
gamma-aminobutyric acid signaling pathway1543.6×0.003HTR1A
adult behavior1468.1×0.003HTR1A
behavioral fear response1432.1×0.003HTR1A
G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger1312.1×0.004HTR1A
chemical synaptic transmission177.3×0.015HTR1A
G protein-coupled receptor signaling pathway136.2×0.029HTR1A
positive regulation of cell population proliferation133.6×0.030HTR1A

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
HTR1AIMIPRAMINE

Top cohort targets by molecule count

SymbolMoleculesMax phase
HTR1A4014

Drugs targeting cohort genes (top 30)

MoleculeMax phaseTargets in cohort
IMIPRAMINE4HTR1A
CANDESARTAN CILEXETIL4HTR1A
BEXAROTENE4HTR1A
METHYSERGIDE4HTR1A
GLIPIZIDE4HTR1A
MORICIZINE4HTR1A
ACETOPHENAZINE4HTR1A
MESORIDAZINE4HTR1A
PHENELZINE4HTR1A
ARTICAINE4HTR1A
EPINASTINE4HTR1A
ARIPIPRAZOLE4HTR1A
AMOXAPINE4HTR1A
SAQUINAVIR4HTR1A
DESLORATADINE4HTR1A
PRUCALOPRIDE4HTR1A
DULOXETINE4HTR1A
TETRABENAZINE4HTR1A
ZOLMITRIPTAN4HTR1A
TRIMETREXATE4HTR1A
DIHYDROERGOTAMINE MESYLATE4HTR1A
CHLOROXINE4HTR1A
CALCIPOTRIENE4HTR1A
CINACALCET HYDROCHLORIDE4HTR1A
OXYMETAZOLINE HYDROCHLORIDE4HTR1A
METHYSERGIDE MALEATE4HTR1A
THIOTHIXENE4HTR1A
CABERGOLINE4HTR1A
SERTACONAZOLE4HTR1A
PROPIOMAZINE4HTR1A

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

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

SymbolAssaysType breakdown
HTR1A1,750Binding:1235, Functional:504, ADMET:10, Toxicity:1

Cohort genes with high screening signal

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

SymbolChEMBL assays
HTR1A1,750

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)
IMIPRAMINE4HTR1A
CANDESARTAN CILEXETIL4HTR1A
BEXAROTENE4HTR1A
METHYSERGIDE4HTR1A
GLIPIZIDE4HTR1A
MORICIZINE4HTR1A
ACETOPHENAZINE4HTR1A
MESORIDAZINE4HTR1A
PHENELZINE4HTR1A
ARTICAINE4HTR1A
EPINASTINE4HTR1A
ARIPIPRAZOLE4HTR1A
AMOXAPINE4HTR1A
SAQUINAVIR4HTR1A
DESLORATADINE4HTR1A
PRUCALOPRIDE4HTR1A
DULOXETINE4HTR1A
TETRABENAZINE4HTR1A
ZOLMITRIPTAN4HTR1A
TRIMETREXATE4HTR1A
DIHYDROERGOTAMINE MESYLATE4HTR1A
CHLOROXINE4HTR1A
CALCIPOTRIENE4HTR1A
CINACALCET HYDROCHLORIDE4HTR1A
OXYMETAZOLINE HYDROCHLORIDE4HTR1A
METHYSERGIDE MALEATE4HTR1A
THIOTHIXENE4HTR1A
CABERGOLINE4HTR1A
SERTACONAZOLE4HTR1A
PROPIOMAZINE4HTR1A

Druggability pyramid

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

TierDefinitionGenesSymbols
AApproved (phase 4 drug)1HTR1A
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: 0.

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 68

This page pulls from 68 datasets indexed by BioBTree:

alphafoldantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticscellosauruschembl_activitychembl_assaychembl_documentchembl_moleculechembl_targetcivic_evidenceclingen_dosageclinical_trialsclinvarctd_gene_interactiondepmapdiamond_similarityefoensemblentrezesm2_similarityfantom5_genefantom5_promotergardgenccgenerifgogtopdbgtopdb_interactiongwasgwas_studyhgncintactinterpromedgenmeshmimmondomondochildmondoparentorphanetpatentpatent_compoundpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assayreactomerefseqrhearnacentralscxa_expressionscxa_gene_experimentsignorstring_interactiontranscriptufeatureumlsuniprot