PFMC
MCID: PRD041
MIFTS: 19

Periodic Fever, Menstrual Cycle-Dependent (PFMC)

Categories: Endocrine diseases, Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Periodic Fever, Menstrual Cycle-Dependent

MalaCards integrated aliases for Periodic Fever, Menstrual Cycle-Dependent:

Name: Periodic Fever, Menstrual Cycle-Dependent 58 76 30 6 74
Periodic Fever, Menstrual Cycle Dependent 58 13
Fever, Periodic, Menstrual Cycle-Dependent 41
Menstrual Cycle-Dependent Febrile Episode 60
Menstrual Cycle-Dependent Periodic Fever 60
Luteal-Phase-Dependent Febrile Episode 60
Luteal-Phase-Dependent Periodic Fever 60
Pfmc 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
symptoms relieved by ovarian suppression
symptoms relieved by progesterone antagonist (in some patients)
symptoms relieved by serotonin antagonist (in some patients)
affected males have serotonin-related disorders such as migraine headaches and diabetes


HPO:

33
periodic fever, menstrual cycle-dependent:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 614674
MeSH 45 D056660
Orphanet 60 ORPHA498251
UMLS 74 C3553418

Summaries for Periodic Fever, Menstrual Cycle-Dependent

UniProtKB/Swiss-Prot : 76 Periodic fever, menstrual cycle-dependent: A condition characterized by recurrent fevers up to 40 degrees Celsius associated with the luteal phase of the menstrual cycle. Women show menstrual cycle-dependent physiologic changes in relation to sex hormone levels. Because ovulation triggers a significant change in the hormonal milieu that is similar to local inflammation, a 0.5 to 1.0 degree Celsius increase in basal body temperature after ovulation is commonly associated with progesterone secretion and is believed to be triggered by the induction of several inflammatory cytokines.

MalaCards based summary : Periodic Fever, Menstrual Cycle-Dependent, also known as periodic fever, menstrual cycle dependent, is related to pleurisy. An important gene associated with Periodic Fever, Menstrual Cycle-Dependent is HTR1A (5-Hydroxytryptamine Receptor 1A). Related phenotypes are increased circulating cortisol level and recurrent spontaneous abortion

OMIM : 58 Women show menstrual cycle-dependent physiologic changes in relation to sex hormone levels. Because ovulation triggers a significant change in the hormonal milieu that is similar to local inflammation, a 0.5 to 1.0 degree Celsius increase in basal body temperature after ovulation is commonly associated with progesterone secretion and is believed to be triggered by the induction of several inflammatory cytokines. Rare menstrual cycle-dependent febrile episodes have been reported, some of which have shown a luteal-phase-dependent pattern (summary by Jiang et al., 2012). (614674)

Related Diseases for Periodic Fever, Menstrual Cycle-Dependent

Diseases related to Periodic Fever, Menstrual Cycle-Dependent via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pleurisy 10.2

Symptoms & Phenotypes for Periodic Fever, Menstrual Cycle-Dependent

Human phenotypes related to Periodic Fever, Menstrual Cycle-Dependent:

33
# Description HPO Frequency HPO Source Accession
1 increased circulating cortisol level 33 occasional (7.5%) HP:0003118
2 recurrent spontaneous abortion 33 occasional (7.5%) HP:0200067
3 fever 33 HP:0001945
4 migraine 33 HP:0002076

Symptoms via clinical synopsis from OMIM:

58
Genitourinary Internal Genitalia Female:
spontaneous abortion, recurrent (in some patients)
fetal loss after 6 to 7 weeks of gestation (in some patients)

Neurologic Central Nervous System:
tremor with febrile episodes (rare)
ataxia with febrile episodes (rare)
lower extremity weakness with febrile episodes (rare)
migraine (in affected males)

Endocrine Features:
hypercortisolism, mild (in some patients)
diabetes (in affected males)

Muscle Soft Tissue:
myalgia with febrile episodes (rare)

Metabolic Features:
high fever (38-41 degrees centigrade), recurrent with each menstrual cycle
periodic fever, luteal phase-dependent (in some patients)
periodic fever, pre- and postovulation (in some patients)

Immunology:
tnf continuously elevated (in some patients)
il6 continuously elevated (in some patients)

Clinical features from OMIM:

614674

Drugs & Therapeutics for Periodic Fever, Menstrual Cycle-Dependent

Search Clinical Trials , NIH Clinical Center for Periodic Fever, Menstrual Cycle-Dependent

Genetic Tests for Periodic Fever, Menstrual Cycle-Dependent

Genetic tests related to Periodic Fever, Menstrual Cycle-Dependent:

# Genetic test Affiliating Genes
1 Periodic Fever, Menstrual Cycle-Dependent 30 HTR1A

Anatomical Context for Periodic Fever, Menstrual Cycle-Dependent

Publications for Periodic Fever, Menstrual Cycle-Dependent

Articles related to Periodic Fever, Menstrual Cycle-Dependent:

# Title Authors Year
1
Menstrual cycle-dependent febrile episode mediated by sequence-specific repression of poly(ADP-ribose) polymerase-1 on the transcription of the human serotonin receptor 1A gene. ( 21990073 )
2012

Variations for Periodic Fever, Menstrual Cycle-Dependent

ClinVar genetic disease variations for Periodic Fever, Menstrual Cycle-Dependent:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 HTR1A NM_000524.3(HTR1A): c.-480delA deletion Pathogenic rs367956927 GRCh37 Chromosome 5, 63258026: 63258026
2 HTR1A NM_000524.3(HTR1A): c.-480delA deletion Pathogenic rs367956927 GRCh38 Chromosome 5, 63962199: 63962199

Expression for Periodic Fever, Menstrual Cycle-Dependent

Search GEO for disease gene expression data for Periodic Fever, Menstrual Cycle-Dependent.

Pathways for Periodic Fever, Menstrual Cycle-Dependent

GO Terms for Periodic Fever, Menstrual Cycle-Dependent

Sources for Periodic Fever, Menstrual Cycle-Dependent

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
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45 MeSH
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47 MGI
50 NCI
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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