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menstrual cycle-dependent periodic fever - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

menstrual cycle-dependent periodic fever

MONDO:0044660

Also known as:luteal-phase-dependent febrile episodeluteal-phase-dependent periodic fevermenstrual cycle-dependent febrile episode

Overview

GeneticsAutosomal dominant · HTR1A (chr 5)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include sometimes findings: Increased circulating cortisol level. 3 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	1	Migraine
Metabolism

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

HTR1A encodes 5-hydroxytryptamine receptor 1A (422 aa). G-protein coupled receptor for 5-hydroxytryptamine (serotonin). Also functions as a receptor for various drugs and psychoactive substances. Highest expression in Brain Frontal Cortex BA9 (2.6 TPM) and Brain Cortex (2.2 TPM).

Menstrual cycle-dependent periodic fever is associated with mutations in the HTR1A gene on chromosome 5.

The HTR1A protein participates in HTR1 and 5A receptors can bind serotonin, HTR1A:HTR1A agonists, and HTR1A:HTR1A Antagonist drugs pathways.

HTR1A is classified as a druggable target (Cell Surface, Druggable Genome, and G Protein Coupled Receptor categories) with score 2.1.

Diagnosis

Genetic testing for HTR1A is available. Testing is considered confirmatory for diagnosis.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 9:59 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614674

Orphanet

European rare disease database

Orphanet:498251

GARD

Genetic and Rare Diseases Info Center

GARD:22017

Questions for Your Care Team

→Should I pursue genetic testing for HTR1A, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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menstrual cycle-dependent periodic fever

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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