PFMC
MCID: PRD041
MIFTS: 23

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 57 72 29 6 70
Periodic Fever, Menstrual Cycle Dependent 57 13
Fever, Periodic, Menstrual Cycle-Dependent 39
Menstrual Cycle-Dependent Febrile Episode 58
Menstrual Cycle-Dependent Periodic Fever 58
Luteal-Phase-Dependent Febrile Episode 58
Luteal-Phase-Dependent Periodic Fever 58
Pfmc 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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:

31
periodic fever, menstrual cycle-dependent:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare gynaecological and obstetric diseases


External Ids:

OMIM® 57 614674
MeSH 44 D056660
ICD10 via Orphanet 33 N94.8
Orphanet 58 ORPHA498251
UMLS 70 C3553418

Summaries for Periodic Fever, Menstrual Cycle-Dependent

UniProtKB/Swiss-Prot : 72 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, is also known as periodic fever, menstrual cycle dependent. An important gene associated with Periodic Fever, Menstrual Cycle-Dependent is HTR1A (5-Hydroxytryptamine Receptor 1A). Affiliated tissues include t cells, and related phenotypes are increased circulating cortisol level and recurrent spontaneous abortion

OMIM® : 57 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) (Updated 20-May-2021)

Related Diseases for Periodic Fever, Menstrual Cycle-Dependent

Symptoms & Phenotypes for Periodic Fever, Menstrual Cycle-Dependent

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

31
# Description HPO Frequency HPO Source Accession
1 increased circulating cortisol level 31 occasional (7.5%) HP:0003118
2 recurrent spontaneous abortion 31 occasional (7.5%) HP:0200067
3 fever 31 HP:0001945
4 migraine 31 HP:0002076

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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 29 HTR1A

Anatomical Context for Periodic Fever, Menstrual Cycle-Dependent

MalaCards organs/tissues related to Periodic Fever, Menstrual Cycle-Dependent:

40
T Cells

Publications for Periodic Fever, Menstrual Cycle-Dependent

Articles related to Periodic Fever, Menstrual Cycle-Dependent:

(show top 50) (show all 102)
# Title Authors PMID 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. 57 6
21990073 2012
2
Fourteen-year-old girl with recurrent luteal-phase-dependent episodes of high fever. 57
21501330 2011
3
A case of ovulatory cycle-dependent symptoms in woman with previous interferon beta therapy. 57
16006734 2005
4
Recurrent fever associated with progesterone action and persistently elevated serum levels of immunoreactive tumor necrosis factor-alpha and interleukin-6. 57
7684743 1993
5
Does pregnancy affect pelvic floor functional anatomy? A retrospective study. 61
33561585 2021
6
Verbal instruction to obtain voluntary pelvic floor muscle contraction: Acceptability, and understanding. 61
33414018 2021
7
A systematic review and activation likelihood estimation meta-analysis of the central innervation of the lower urinary tract: Pelvic floor motor control and micturition. 61
33534812 2021
8
Levator avulsion and vaginal parity: do subsequent vaginal births matter? 61
32474637 2020
9
Immunomodulatory effects of vitamin D3 on gene expression of MDGF, EGF and PDGFB in endometriosis. 61
32883565 2020
10
The usual suspect: cross-sectional study of fundal pressure at second stage of delivery and the association with pelvic floor damage. 61
32902763 2020
11
Is pelvic floor muscle contractility an important factor in anal incontinence? 61
32959435 2020
12
Mycobacterial antigens in pleural fluid mononuclear cells to diagnose pleural tuberculosis in HIV co-infected patients. 61
32611401 2020
13
Anal sphincter imaging: better done at rest or on pelvic floor muscle contraction? 61
31813034 2020
14
Does size matter? Perineometer and digital examination of a model levator hiatus. 61
32394457 2020
15
What is a significant defect of the anal sphincter on translabial ultrasound? 61
31271480 2020
16
CRISPR Interference of a Clonally Variant GC-Rich Noncoding RNA Family Leads to General Repression of var Genes in Plasmodium falciparum. 61
31964736 2020
17
Whole brain 7T-fMRI during pelvic floor muscle contraction in male subjects. 61
31724214 2020
18
Does estrogen deprivation affect pelvic floor muscle contractility? 61
31055611 2020
19
Dynamic changes of fetal head descent at term before the onset of labor correlate with labor outcome and can be improved by ultrasound visual feedback. 61
31394944 2019
20
Down regulation of RANTES in pleural site is associated with inhibition of antigen specific response in tuberculosis. 61
31103419 2019
21
All Levels of Providers Can Effectively and Efficiently Teach Pelvic Floor Strength Assessment at Time of Pelvic Examination. 61
30807419 2019
22
Can you train the pelvic floor muscles by contracting other related muscles? 61
30592502 2019
23
LncRNA H19 over-expression inhibited Th17 cell differentiation to relieve endometriosis through miR-342-3p/IER3 pathway. 61
31636893 2019
24
Bioactive phenolic fraction of Citrus maxima abate lipopolysaccharide-induced sickness behaviour and anorexia in mice: In-silico molecular docking and dynamic studies of biomarkers against NF-κB. 61
30372855 2018
25
Submaximal pelvic floor muscle contractions: similar bladder-neck elevation, longer duration, less intra-abdominal pressure. 61
30069729 2018
26
Recovery of puborectalis muscle after vaginal delivery: an ultrasound study. 61
29205594 2018
27
The immune characterization of interferon-β responses in tuberculosis patients. 61
29504148 2018
28
Smartphone-based reminder system to promote pelvic floor muscle training for the management of postnatal urinary incontinence: historical control study with propensity score-matched analysis. 61
29441244 2018
29
Common errors made in attempt to contract the pelvic floor muscles in women early after delivery: A prospective observational study. 61
29202394 2018
30
Levator ani muscle avulsion is a risk factor for expulsion within 1 year of vaginal pessary placed for pelvic organ prolapse. 61
28078670 2017
31
Ethnic differences in the levator hiatus and pelvic organ descent: a prospective observational study. 61
27607844 2017
32
PAI-1 in granulosa cells is suppressed directly by statin and indirectly by suppressing TGF-β and TNF-α in mononuclear cells by insulin-sensitizing drugs. 61
28337819 2017
33
Is it necessary to diagnose levator avulsion on pelvic floor muscle contraction? 61
26616261 2017
34
Does pelvic floor muscle contraction early after delivery cause perineal pain in postpartum women? 61
27875777 2017
35
Alpha-7 nicotinic acetylcholine receptor (nAChR) agonist inhibits the development of endometriosis by regulating inflammation. 61
27766701 2016
36
Pelvic floor muscle contraction and abdominal hollowing during walking can selectively activate local trunk stabilizing muscles. 61
26966824 2016
37
Effectiveness of adding voluntary pelvic floor muscle contraction to a Pilates exercise program: an assessor-masked randomized controlled trial. 61
27250831 2016
38
Antenatal pelvic floor biometry is related to levator ani muscle injury. 61
26480817 2016
39
[Preliminary evaluation on self-developed dentin porcelain color prediction system]. 61
27596343 2016
40
Can Abdominal Hypopressive Technique Change Levator Hiatus Area?: A 3-Dimensional Ultrasound Study. 61
26441380 2016
41
Productive HIV-1 infection is enriched in CD4(-)CD8(-) double negative (DN) T cells at pleural sites of dual infection with HIV and Mycobacterium tuberculosis. 61
26497177 2016
42
Use of Pleural Fluid Interferon-gamma Enzyme-linked Immunospot Assay in the Diagnosis of Pleural Tuberculosis. 61
27241543 2016
43
Immune Activation at Sites of HIV/TB Co-Infection Contributes to the Pathogenesis of HIV-1 Disease. 61
27870882 2016
44
Expansion and productive HIV-1 infection of Foxp3 positive CD4 T cells at pleural sites of HIV/TB co-infection. 61
28124031 2016
45
Type of in vitro cultivation influences cytoadhesion, knob structure, protein localization and transcriptome profile of Plasmodium falciparum. 61
26568166 2015
46
A comparative study of the localization and membrane topology of members of the RIFIN, STEVOR and PfMC-2TM protein families in Plasmodium falciparum-infected erythrocytes. 61
26173856 2015
47
HeLa Based Cell Free Expression Systems for Expression of Plasmodium Rhoptry Proteins. 61
26131624 2015
48
Pelvic floor muscle biometry and pelvic organ mobility in East Asian and Caucasian nulliparae. 61
25175901 2015
49
Pelvic floor awareness and the positive effect of verbal instructions in 958 women early postdelivery. 61
25062656 2015
50
Evaluation of path-history-based fluorescence Monte Carlo method for photon migration in heterogeneous media. 61
25607163 2014

Variations for Periodic Fever, Menstrual Cycle-Dependent

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HTR1A NM_000524.3(HTR1A):c.-480del Deletion Pathogenic 31658 rs367956927 GRCh37: 5:63258026-63258026
GRCh38: 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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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