MCID: AMN001
MIFTS: 56

Amenorrhea

Categories: Reproductive diseases
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Aliases & Classifications for Amenorrhea

MalaCards integrated aliases for Amenorrhea:

Name: Amenorrhea 11 75 5 43 14 16 71
Absence of Menstruation 11
Amenia 11

Classifications:



External Ids:

Disease Ontology 11 DOID:13938
ICD9CM 34 626.0
MeSH 43 D000568
NCIt 49 C61443
SNOMED-CT 68 156034000
ICD10 31 N91.2
UMLS 71 C0002453

Summaries for Amenorrhea

Disease Ontology: 11 A female reproductive system disease that is characterized by the absence of menstruation.

MalaCards based summary: Amenorrhea, also known as absence of menstruation, is related to hypogonadotropic hypogonadism 24 with or without anosmia and hypogonadotropic hypogonadism 23 with or without anosmia, and has symptoms including menometrorrhagia and ovulation bleeding. An important gene associated with Amenorrhea is FSHR (Follicle Stimulating Hormone Receptor), and among its related pathways/superpathways are Metabolism of proteins and Signal Transduction. The drugs Ethinylestradiol and Cyproterone acetate have been mentioned in the context of this disorder. Affiliated tissues include pituitary, breast and ovary, and related phenotypes are homeostasis/metabolism and nervous system

Wikipedia: 75 Amenorrhea is the absence of a menstrual period in a woman of reproductive age. Physiological states of... more...

Related Diseases for Amenorrhea

Diseases related to Amenorrhea via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 734)
# Related Disease Score Top Affiliating Genes
1 hypogonadotropic hypogonadism 24 with or without anosmia 32.1 INS FSHB
2 hypogonadotropic hypogonadism 23 with or without anosmia 32.0 LHB GNRH1
3 galactorrhea 32.0 PRL IGF1
4 premature ovarian failure 7 31.7 POMC NR5A1 CRH
5 hyperprolactinemia 31.7 SHBG PRL POMC INS IGF1 GNRH1
6 perrault syndrome 31.7 NOBOX GDF9 FOXL2 BMP15
7 premature ovarian failure 1 31.7 PRL GNRH1 GDF9 FSHR FOXL2 BMP15
8 prolactinoma 31.7 SHBG PRL POMC INS IGF1 GNRH1
9 leydig cell hypoplasia 31.6 NR5A1 LHCGR GNRH1 FSHR CYP17A1
10 anorexia nervosa 31.5 SHBG PRL POMC LEP INS IGF1
11 ovarian dysgenesis 2 31.5 CYP17A1 BMP15
12 sheehan syndrome 31.5 PRL POMC INS IGF1 CRH
13 blepharophimosis, ptosis, and epicanthus inversus 31.4 NR5A1 NOBOX GDF9 FOXL2 BMP15
14 turner syndrome 31.2 SHBG LEP INS IGF1 BMP15
15 kallmann syndrome 31.2 PRL POMC NR5A1 LHCGR LHB LEP
16 pituitary adenoma 31.0 PRL POMC IGF1 GNRH1 CRH
17 gonadal dysgenesis 30.9 SHBG NR5A1 GDF9 FSHR FOXL2 BMP15
18 eating disorder 30.9 POMC LEP INS IGF1 CRH
19 adenoma 30.9 PRL POMC LHCGR IGF1 CRH
20 46,xx sex reversal 1 30.8 NR5A1 FSHR BMP15
21 central diabetes insipidus 30.8 PRL POMC IGF1 GNRH1
22 polycystic ovary syndrome 30.8 SHBG PRL POMC LHCGR LEP INS
23 diabetes insipidus 30.8 PRL POMC INS CRH
24 androgen insensitivity syndrome 30.7 SHBG NR5A1 CYP17A1
25 leptin deficiency or dysfunction 30.7 POMC LEP INS IGF1 GNRH1 CRH
26 hypothyroidism 30.7 SHBG PRL POMC LEP INS IGF1
27 pituitary-dependent cushing's disease 30.6 PRL POMC CRH
28 pituitary gland disease 30.6 PRL POMC INS IGF1 GNRH1 CRH
29 empty sella syndrome 30.6 PRL POMC INS IGF1 GNRH1
30 craniopharyngioma 30.6 PRL NR5A1 INS IGF1 GNRH1
31 endometriosis 30.6 WNT4 NR5A1 GNRH1 FSHR CYP17A1
32 graves disease 1 30.6 SHBG POMC INS
33 mccune-albright syndrome 30.6 PRL POMC LEP IGF1
34 hypogonadism 30.6 SHBG PRL POMC LHCGR LHB LEP
35 ovarian cyst 30.5 SHBG PRL GNRH1
36 pituitary hormone deficiency, combined, 2 30.5 PRL POMC IGF1 GNRH1
37 acanthosis nigricans 30.5 SHBG LEP INS IGF1
38 osteoporosis 30.5 SHBG PRL LEP INS IGF1 GNRH1
39 myoma 30.4 PRL LEP GNRH1
40 leydig cell tumor 30.4 PRL NR5A1 LHCGR GNRH1 CYP17A1
41 hyperandrogenism 30.4 WNT4 SHBG PRL POMC INS IGF1
42 chromophobe adenoma 30.4 PRL POMC
43 hypoglycemia 30.3 PRL POMC LEP INS IGF1 CRH
44 insulin-like growth factor i 30.3 SHBG PRL LEP INS IGF1
45 acromegaly 30.3 SHBG PRL POMC LEP INS IGF1
46 hyperthyroidism 30.3 SHBG PRL POMC LEP INS IGF1
47 adrenal adenoma 30.3 POMC CYP17A1 CRH
48 complete androgen insensitivity syndrome 30.3 SHBG NR5A1 LHCGR CYP17A1
49 46 xx gonadal dysgenesis 30.2 NOBOX LHCGR GDF9 FSHR FOXL2 BMP15
50 hermaphroditism 30.2 WNT4 NR5A1 FOXL2

Graphical network of the top 20 diseases related to Amenorrhea:



Diseases related to Amenorrhea

Symptoms & Phenotypes for Amenorrhea

UMLS symptoms related to Amenorrhea:


menometrorrhagia; ovulation bleeding

MGI Mouse Phenotypes related to Amenorrhea:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.27 CRH CYP17A1 FOXL2 FSHB FSHR GDF9
2 nervous system MP:0003631 10.22 CRH FSHR GNRH1 IGF1 INS LEP
3 growth/size/body region MP:0005378 10.2 BMP15 CRH CYP17A1 FOXL2 FSHR GNRH1
4 endocrine/exocrine gland MP:0005379 10.19 BMP15 CRH FOXL2 FSHB FSHR GDF9
5 renal/urinary system MP:0005367 10.11 CRH GNRH1 IGF1 INS LEP LHCGR
6 liver/biliary system MP:0005370 10.03 CRH GNRH1 INS LEP LHCGR POF1B
7 cellular MP:0005384 10.03 BMP15 CRH CYP17A1 FOXL2 FSHB FSHR
8 adipose tissue MP:0005375 10.01 CRH CYP17A1 FSHR IGF1 INS LEP
9 reproductive system MP:0005389 9.86 BMP15 CYP17A1 FOXL2 FSHB FSHR GDF9
10 integument MP:0010771 9.32 CRH FSHR GNRH1 IGF1 INS LEP

Drugs & Therapeutics for Amenorrhea

Drugs for Amenorrhea (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 86)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethinylestradiol Approved Phase 4 57-63-6 5991
2
Cyproterone acetate Approved, Investigational Phase 4 427-51-0 9880
3
Levonorgestrel Approved, Investigational Phase 4 797-63-7 13109
4
Leuprolide Approved, Investigational Phase 4 53714-56-0 657181
5
Calcium carbonate Approved, Investigational Phase 4 471-34-1
6
Tibolone Approved, Investigational Phase 4 5630-53-5 5470 444008
7
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
8
Polyestradiol phosphate Approved Phase 4 28014-46-2
9
Cholecalciferol Approved, Nutraceutical, Vet_approved Phase 4 67-97-0, 1406-16-2 5280795 10883523
10 Contraceptives, Oral Phase 4
11 Contraceptive Agents Phase 4
12 Estrogens Phase 4
13 Hormone Antagonists Phase 4
14 Contraceptives, Oral, Hormonal Phase 4
15 Contraceptive Agents, Male Phase 4
16
Cyproterone Phase 4 2098-66-0 5284537
17 Antipsychotic Agents Phase 4
18 Anabolic Agents Phase 4
19 Vitamins Phase 4
20 Estrogen Receptor Modulators Phase 4
21 Trace Elements Phase 4
22 Calciferol Phase 4
23 Antihypertensive Agents Phase 4
24 Calcium, Dietary Phase 4
25 Androgens Phase 4
26 Androgen Antagonists Phase 4
27 Micronutrients Phase 4
28 Selective Estrogen Receptor Modulators Phase 4
29 Hormones Phase 4
30 Estradiol 3-benzoate Phase 4
31 Estradiol 17 beta-cypionate Phase 4
32
Calcium Nutraceutical Phase 4 7440-70-2 271
33
Desogestrel Approved Phase 3 54024-22-5 40973
34
Toremifene Approved, Investigational Phase 3 89778-26-7 3005573
35
Goserelin Approved Phase 3 65807-02-5 5311128 47725
36
Medroxyprogesterone acetate Approved, Investigational Phase 3 520-85-4, 71-58-9 6279 10631
37 Progestins Phase 3
38 Prolactin Release-Inhibiting Factors Phase 3
39 Follicle Stimulating Hormone Phase 3
40 Gonadotropins, Pituitary Phase 3
41 Antineoplastic Agents, Hormonal Phase 3
42
Moxifloxacin Approved, Investigational Phase 2 186826-86-8, 354812-41-2, 151096-09-2 152946
43 Norgestimate, ethinyl estradiol drug combination Phase 2
44 Estrogens, Conjugated (USP) Phase 2
45 Liver Extracts Phase 1, Phase 2
46 Immune Sera Phase 2
47 Ethinyl Estradiol-Norgestrel Combination Phase 1, Phase 2
48
Epirubicin Approved 56420-45-2 41867
49
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
50
Trastuzumab Approved, Investigational 180288-69-1

Interventional clinical trials:

(show top 50) (show all 79)
# Name Status NCT ID Phase Drugs
1 Phase IV Study of the Use of Two Preparations of Ethinyl Estradiol and Cyproterone Acetate in Irregular Menstruation of Hyper-androgenic Origin Unknown status NCT01103518 Phase 4 Ethinyl Estradiol + Cyproterone acetate
2 Evaluation of Safety and Efficacy of PROMETRIUM® Capsules in Induction of Secretory Conversion of Endometrium and Withdrawal Bleeding in Subjects With Secondary Amenorrhea Completed NCT00160199 Phase 4 PROMETRIUM® 300 mg;PROMETRIUM® 400 mg
3 Metformin for Treatment Antipsychotic Induced Amenorrhea in Female Schizophrenic Patients: a Double Blind, Placebo-controlled Study Completed NCT01206153 Phase 4 metformin
4 Psychological Impact of Amenorrhea in Women With Endometriosis: Perspective Randomized Study Not yet recruiting NCT02393482 Phase 4 Estroprogestinic therapy (Etinil-estradiol/levonorgestre);Gonadotropin-releasing hormone agonist (Leuprorelin acetate);Add back therapy 1 (tibolone);Add back therapy 2 (calcium carbonate/colecalciferol)
5 The Luveris® In Vitro Fertilization Trial: The Effect of Recombinant Luteinizing Hormone on Follicular Response, Oocyte Quality, and Pregnancy in In-Vitro Fertilization Treatment Cycles in Women Without Endogenous LH Activity. Terminated NCT00889512 Phase 4 Luveris fixed dose;Luveris increasing dose
6 A Multicenter, Double-Blind, Randomized, Placebo-Controlled Study Evaluating Three Doses of Subcutaneous Pulsatile GnRH Administered Via OmniPod Pump for Ovulation Induction in Female Subjects With Primary Amenorrhea With Hypogonadotropic Hypogonadism Completed NCT01976728 Phase 3 Gonadorelin acetate subcutaneous (SC) 10 μg/pulse as a fixed dose, administered via. OmniPod pump;Gonadorelin acetate SC 15 μg/pulse as a fixed dose, administered via. OmniPod pump;Gonadorelin acetate SC 20 μg/pulse as a fixed dose, administered via. OmniPod pump;Placebo (SC 10, 15, or 20 μg/pulse as a fixed dose, administered via. OmniPod pump)
7 Parallel-Group Comparative Study of SJ-0021 and Purified Pituitary Gonadotropin in Subjects With Amenorrhea I or Anovulatory Cycles - Phase III Single-Blind Study Completed NCT01185782 Phase 3 Gonalef® (Follitropin alfa);Purified pituitary gonadotropin (Fertinorm-P®)
8 Fat Mediated Modulation of Reproductive and Endocrine Function in Young Athletes Completed NCT00946192 Phase 3 Transdermal 17Beta-estradiol, progesterone;Ethinyl Estradiol + Desogestrel
9 Investigating Reactivation of Ovarian Function Following Autologous PRP Intra-ovarian Infusion in Menopausal Women Recruiting NCT03916978 Phase 2, Phase 3
10 Study of Adjuvant Toremifene With or Without Goserrelin in Premenopausal Women With Stage I-IIIA, Hormonal Receptor Positive Breast Cancer Accompanied With or Without Chemotherapy Induced Amenorrhoea Not yet recruiting NCT02132390 Phase 3 Goserelin;Toremifene
11 A Phase 3, Randomized, Three-Cycle, Double-Blind, Placebo-Controlled Study to Evaluate Induction of Secretory Conversion of Endometrium and Withdrawal Bleeding After Administration of TX-12-002-HR in Estrogen-Primed Women With Secondary Amenorrhea Terminated NCT02019589 Phase 3 Progesterone;Placebo
12 The Effect of Post Ablation Medroxyprogesterone Acetate on Endometrial Amenorrhea Rates: a RCT Terminated NCT02449161 Phase 3 MPA;placebo
13 A Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Safety and Efficacy of a 91-Day Extended-Cycle Combination Oral Contraceptive (Seasonale) for the Treatment of Low Bone Mineral Density in Adolescent Females With Secondary Amenorrhea and Osteopenia Withdrawn NCT00117260 Phase 3 Seasonale (levonorgestrel and ethinyl estradiol)
14 "2008P-00346: Bone Mass Accrual in Adolescent Athletes" Withdrawn NCT00827151 Phase 3 Estrogen
15 Compare the Different Routes of Administration of Misoprostol During Medicinal Abortion Between 7 and 9 Weeks of Amenorrhoea (SA) Withdrawn NCT03140384 Phase 3
16 Pulsatile GnRH in Anovulatory Infertility Unknown status NCT00383656 Phase 2 GnRH
17 Randomized, Double-blind, Placebo-controlled Trial of Human Recombinant Leptin (r-metHuLeptin) for the Treatment of Hypothalamic (Exercise-Induced) Amenorrhea Completed NCT00130117 Phase 2 r-metHuLeptin;Oral Contraceptive Pills (OCPs)
18 A Multicenter Study to Evaluate Induction of Withdrawal Bleeding After Administration of DR-2021 in Women With Secondary Amenorrhea Completed NCT00196391 Phase 2 DR-2021a;DR-2021b;DR-2021c;DR-2021d;DR-2021e
19 Phase II Study of GnRH Analogue for Ovarian Function Preservation in Hematopoietic Stem Cell Transplantation Patients Completed NCT00429494 Phase 2 Leuprolide Acetate
20 A Phase II Pilot Study to Evaluate the Safety and Efficacy of J867 Administered With Estrogen to Postmenopausal Women Completed NCT00152282 Phase 2 Asoprisnil/Premarin;Placebo and Premarin
21 A Single-Blind, Placebo Run-in, Phase I/II Study Comparing Five Oral Doses of Proellex® Completed NCT01187043 Phase 1, Phase 2 Proellex
22 Atherosclerosis, Immune Mediated Inflammation and Hypoestrogenemia in Young Women Active, not recruiting NCT03018366 Phase 2 17beta Estradiol;Transdermal placebo patch;Progesterone;Placebo Pill
23 Treatment of Menorrhagia in Women With Thrombocytopenia: Comparison of Platelet Transfusion Alone to Platelet Transfusion With Continuous Oral Contraceptive Pills Terminated NCT00556400 Phase 1, Phase 2 Lo-Ovral Oral Contraceptive Pills;Placebo - sugar pill
24 Kisspeptin Administration Subcutaneously to Patients With Reproductive Disorders Recruiting NCT05633966 Phase 1 Kisspeptin 112-121
25 An Open-Label, Escalating Dose, Single Center, Cross-over Design, Phase I Study to Evaluate Menses Induction in Women Administered Proellex Terminated NCT00881608 Phase 1 Placebo;Proellex
26 Effects of 6 Months of HRT on Total Antioxidant Capacity in Patients Affected by Hypotalamic Amenorrhea Unknown status NCT02984696 1 mg of transdermal estradiol daily and 10mg of oral MPA
27 Description of Practices Implemented in the Birth of Living Children Before 24 Weeks of Amenorrhea Unknown status NCT03403894
28 Comparison of the Effectiveness of Neoadjuvant Chemotherapy and the Outcomes Associated With Chemo-induced Amenorrhea Between Docetaxel Plus Epirubicin, and Docetaxel Plus Epirubicin Plus Cyclophosphamide as Neoadjuvant Chemotherapy for Operable Premenopausal Breast Cancer Patients. Unknown status NCT01503905 Docetaxel;epirubicin;cyclophosphamide;Docetaxel (post-operative);Epirubicin (post-operative);Cyclophosphamide (post-operative);Herceptin (post-operative);Tamoxifen (post-operative)
29 Effects of Exercise and Yogurt on Bone Mineral Density and Immunological Factors in Human Milk: The MEEMA Study Unknown status NCT03732261
30 Baselines in Reproductive Disorders Unknown status NCT00456274
31 Therapeutic Drug Monitoring of Gentamicin and Vancomycin, in Neonates, Using Dried Blood Spot Sampling. Unknown status NCT03651115
32 Evaluation of the Protein Intake of the Pregnant Woman According to the Weight Status and in Pregnant Women Operated on Bariatric Surgery Unknown status NCT03669731
33 Phenotyping and Genotyping of Women Presenting With Ovarian Dysfunction Associated With a Hypergonadotropic Hypo-estrogenic Hormonal Status (WHO III) and Their First and Second Degree Relatives Unknown status NCT01411644
34 Variability of Uterine and Breast Development in Response to Exogenous Oestrogen During Induction of Puberty in Individuals With Hypogonadism. Unknown status NCT02871986 Routine transdermal oestrogen patch
35 The Health of Competitive Fitness Athletes, a Cohort Study of Female Fitness Athletes and Physical Active Control's During and After Three Months of Fitness Contest Dieting Completed NCT03007459
36 Mirena and Amenorrhea Related acceptabILity in Contraception indIcAtion Completed NCT01833793 Levonorgestrel IUD (Mirena, BAY86-5028)
37 Efficacy of Mifepristone - Prostaglandin Analogue Combination in Medical Termination of Pregnancy Beyond 7 Weeks of Amenorrhea Completed NCT02614781
38 Impact of Oropharyngeal Administration of Colostrum in the First 48 Hours of Life Term Premature Newborn ≤ 32 Weeks of Amenorrhea Completed NCT02650167
39 Hormone Dynamics and Bone Mineral Density in Anorexia Nervosa v. Hypothalamic Amenorrhea Completed NCT00556036
40 Exercise Amenorrhea Stress and Bone Health in Adolescents Completed NCT00441402
41 Pathogenesis of Functional Hypothalamic Amenorrhea Completed NCT01674426
42 Study of New Biomarkers Associated With the Risk of Premature Delivery During Spontaneous Work With Intact Membranes Before 37 Weeks of Amenorrhea. Completed NCT04067908
43 Improvement of the Early Management and Thermal Comfort of Premature Infants Under 32 Weeks of Amenorrhea Placed in a Closed Incubator: Comparison of the Use of the Incubator in Conventional "Air" vs. "Cutaneous" Regulation Mode . Completed NCT03648606
44 Emergency Contraception as a Back up of Lactational Amenorrhea Method of Contraception Completed NCT01111929 Counseling for LAM+ LNG-EC
45 Evaluation of the Prognostic Value of Monocytes and Lymphocyte Phenotyping, Along With Intracellular MCP-1 Expression, to Predict Preterm Delivery for Women Hospitalized for Threat of Preterm Labor Between 24 and 34 Weeks of Amenorrhea: PhenoMAP Study Completed NCT01340222
46 Body Image and Mental Health Symptoms in Personal Trainers and Group Instructors Completed NCT04135729
47 Assessment of Efficacy of Uterine Artery Doppler in Predicting the Response to Mefenamic Acid During Treatment of Women With IUCD Associated Menorrhagia Completed NCT03794895
48 Organochlorine Compounds and Menstrual Cycle Function Completed NCT00011388
49 Bioenergetics of Exercise-Induced Menstrual Disturbances Completed NCT04938622
50 Reproductive Health Outcomes by Method of Breast Milk Feeding Completed NCT03568851

Search NIH Clinical Center for Amenorrhea

Inferred drug relations via UMLS 71 / NDF-RT 50 :


17-alpha-Hydroxyprogesterone
2-Bromoergocryptine Mesylate
Bromocriptine
Gonadorelin
Gonadorelin Acetate
Gonadorelin Hydrochloride
hydroxyprogesterone caproate (USP)
Medroxyprogesterone
medroxyprogesterone acetate
norelgestromin
Norethynodrel
norgestimate
Progesterone
PROGESTERONE PWDR

Cochrane evidence based reviews: amenorrhea

Genetic Tests for Amenorrhea

Anatomical Context for Amenorrhea

Organs/tissues related to Amenorrhea:

MalaCards : Pituitary, Breast, Ovary, Bone, Brain, Bone Marrow, Uterus

Publications for Amenorrhea

Articles related to Amenorrhea:

(show top 50) (show all 10859)
# Title Authors PMID Year
1
Uterine transarterial embolization as nonsurgical management for uterine rupture following vaginal delivery: A report of two cases. 62
36388613 2023
2
Levonorgestrel 52 mg intrauterine system efficacy and safety through 8 years of use. 62
35569516 2022
3
Contraceptive efficacy and safety of the 52-mg levonorgestrel intrauterine system for up to 8 years: findings from the Mirena Extension Trial. 62
36096186 2022
4
Embryonic stem cells-derived mesenchymal stem cells do not differentiate into ovarian cells but improve ovarian function in POF mice. 62
36265287 2022
5
Long-term Relugolix Combination Therapy for Symptomatic Uterine Leiomyomas. 62
36357960 2022
6
Use of gonadotropin-releasing hormone agonists for ovarian preservation in patients receiving cyclophosphamide for systemic lupus erythematosus: A meta-analysis. 62
36148853 2022
7
The experience of pregnancy associated osteoporosis: An international survey with implications for midwifery care. 62
36108340 2022
8
Gestational diabetes and other adverse pregnancy outcomes in polycystic ovary syndrome. 62
35983844 2022
9
Atypical Presentation of a Giant Hemorrhagic Ovarian Cyst. 62
36452449 2022
10
Post-treatment anti-Mullerian hormone (AMH) levels predict long-term ovarian dysfunction in women with hematological malignancies. 62
35068389 2022
11
How much will it hurt? Factors associated with pain experience in women undergoing medication abortion during the first trimester. 62
36470325 2022
12
Evaluation of pharmacokinetics and safety of a long-term estradiol-releasing stent in rat uterine. 62
36313395 2022
13
[Fertility preservation for transmen]. 62
36183988 2022
14
Evaluation of safety and effectiveness of gestrinone in the treatment of endometriosis: a systematic review and meta-analysis. 62
36434439 2022
15
Robot-assisted laparoscopic repair of cesarean scar defect: a systematic review of clinical evidence. 62
36436106 2022
16
Stress fractures. 62
36382766 2022
17
Quality of Life, Anxiety and Depression in Women Treated with Hysteroscopic Endometrial Resection or Ablation for Heavy Menstrual Bleeding: Systematic Review and Meta-Analysis of Randomized Controlled Trials. 62
36422203 2022
18
Menopausal Voice-Related Work Limitation Scale (MenoVWL): Development and Validation. 62
36460538 2022
19
Ectopic abdominal pregnancy on the ascending colon. 62
36397841 2022
20
[Induced abortion and COVID-19 : What changed with the pandemic in 2020]. 62
36123204 2022
21
Spontaneous early pregnancy with very low levels of progesterone during controlled ovarian stimulation-A case report. 62
34995048 2022
22
Reasons for satisfaction with the use of the 52-mg levonorgestrel intrauterine system. 62
35396862 2022
23
Hormone Therapy for the Primary Prevention of Chronic Conditions in Postmenopausal Persons: US Preventive Services Task Force Recommendation Statement. 62
36318127 2022
24
[Over 5 years follow-up of three cases of autoimmune autonomic ganglionopathy]. 62
36288969 2022
25
Participation in varsity sports, dance, and Greek life associated with menstrual disturbance in a national sample of female college students. 62
35380508 2022
26
Female athlete triad affects rat intestinal morphology and sucrase-isomaltase expression. 62
36329653 2022
27
[Human chorionic gonadotropin-secreting gonadoblastomas in a girl of 45, X Turner syndrome: a case report and literature review]. 62
36319158 2022
28
[Efficacy of dienogest versus gonadotropin-releasing hormone agonist combined with dienogest sequential therapy in the treatment of adenomyosis]. 62
36456483 2022
29
High-intensity focused ultrasound ablation combined with systemic methotrexate treatment of intramural ectopic pregnancy: A case report. 62
36401379 2022
30
Early Course of Symptom Development in Anorexia Nervosa. 62
35973892 2022
31
Long-term follow-up of a randomized controlled trial comparing systemic family therapy (FT-S) added to treatment as usual (TAU) with TAU alone in adolescents with anorexia nervosa. 62
35178708 2022
32
Ovarian steroid cell tumors, not otherwise specified: analysis of nine cases with a literature review. 62
36316664 2022
33
Advances in the cellular immunological pathogenesis and related treatment of primary ovarian insufficiency. 62
36087022 2022
34
Evidence for a fragile X messenger ribonucleoprotein 1 (FMR1) mRNA gain-of-function toxicity mechanism contributing to the pathogenesis of fragile X-associated premature ovarian insufficiency. 62
36250920 2022
35
Androgen-secreting adult granulosa cell tumor in a woman with polycystic ovary syndrome: a case report. 62
36367302 2022
36
Clinical features of Mayer-Rokitansky-Küster-Haüser syndrome diagnosed at under 16 years old: results from a questionnaire survey conducted on all institutions of pediatric surgery and pediatric urology in Japan. 62
36029342 2022
37
Integral Role of the Mitochondrial Ribosome in Supporting Ovarian Function: MRPS7 Variants in Syndromic Premature Ovarian Insufficiency. 62
36421788 2022
38
PCOS and Depression: Common Links and Potential Targets. 62
34642910 2022
39
Functional hypothalamic amenorrhea with or without polycystic ovarian morphology: a retrospective cohort study about insulin resistance. 62
36369186 2022
40
Clinical and electroencephalographic features of epilepsy in patients with triple X syndrome: A case series. 62
36183453 2022
41
An unusual familial Xp22.12 microduplication including EIF1AX: A novel candidate dosage-sensitive gene for premature ovarian insufficiency. 62
36113757 2022
42
"Clandestine" home delivery with mifepristone. 62
36445505 2022
43
Association of diet quality and hormonal status in exercising women with menstrual disturbances. 62
36084338 2022
44
The effect of pomegranate seed oil on human health, especially epidemiology of polycystic ovary syndrome; a systematic review. 62
35257560 2022
45
Ovarian Sertoli Cell Tumor with Immature Prepubertal-like Sertoli Cell Component: A Case Report and Literature Review. 62
36422177 2022
46
Hyperandrogenism caused by a rare adrenocortical oncocytic neoplasm with uncertain malignant potential: a case report and review of the literature. 62
36384706 2022
47
[Contraception for transgender men: a case report and review]. 62
36436822 2022
48
Effects of SARS-CoV-2 infection and COVID-19 pandemic on menstrual health of women: A systematic review. 62
36248348 2022
49
Use of pulsatile gonadotropin-releasing hormone (GnRH) in patients with functional hypothalamic amenorrhea (FHA) results in monofollicular ovulation and high cumulative live birth rates: a 25-year cohort. 62
36378460 2022
50
The Effects of Isotretinoin on The Menstrual Cycle: A Cross-Sectional Study. 62
36412674 2022

Variations for Amenorrhea

ClinVar genetic disease variations for Amenorrhea:

5 (show top 50) (show all 53)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FSHR NM_000145.4(FSHR):c.2T>C (p.Met1Thr) SNV Pathogenic
523337 rs955385021 GRCh37: 2:49381555-49381555
GRCh38: 2:49154416-49154416
2 GNRHR NM_000406.3(GNRHR):c.504T>A (p.Ser168Arg) SNV Uncertain Significance
16028 rs104893840 GRCh37: 4:68619550-68619550
GRCh38: 4:67753832-67753832
3 SOX2-OT, SOX2 NM_003106.4(SOX2):c.64G>A (p.Gly22Ser) SNV Uncertain Significance
167717 rs727504169 GRCh37: 3:181430212-181430212
GRCh38: 3:181712424-181712424
4 ANOS1 NM_000216.4(ANOS1):c.2015A>G (p.His672Arg) SNV Uncertain Significance
224350 rs199771303 GRCh37: X:8501064-8501064
GRCh38: X:8533023-8533023
5 POLR3B NM_018082.6(POLR3B):c.2161A>T (p.Lys721Ter) SNV Uncertain Significance
1254737 GRCh37: 12:106848357-106848357
GRCh38: 12:106454579-106454579
6 RAB3GAP1 NM_012233.3(RAB3GAP1):c.2840G>A (p.Arg947His) SNV Uncertain Significance
1344740 GRCh37: 2:135926245-135926245
GRCh38: 2:135168675-135168675
7 PROK2 NM_001126128.2(PROK2):c.181A>G (p.Met61Val) SNV Uncertain Significance
1344741 GRCh37: 3:71830659-71830659
GRCh38: 3:71781508-71781508
8 KLB NM_175737.4(KLB):c.505G>A (p.Ala169Thr) SNV Uncertain Significance
1344742 GRCh37: 4:39409074-39409074
GRCh38: 4:39407454-39407454
9 KLB NM_175737.4(KLB):c.2723G>T (p.Gly908Val) SNV Uncertain Significance
1344743 GRCh37: 4:39449069-39449069
GRCh38: 4:39447449-39447449
10 TACR3 NM_001059.3(TACR3):c.743A>G (p.His248Arg) SNV Uncertain Significance
1344744 GRCh37: 4:104577496-104577496
GRCh38: 4:103656339-103656339
11 OTUD4 NM_001366057.1(OTUD4):c.2993C>G (p.Pro998Arg) SNV Uncertain Significance
1344745 GRCh37: 4:146058934-146058934
GRCh38: 4:145137782-145137782
12 SRA1 NM_001035235.4(SRA1):c.293_294del (p.Val98fs) MICROSAT Uncertain Significance
1344746 GRCh37: 5:139931627-139931628
GRCh38: 5:140552042-140552043
13 SPRY4 NM_001127496.3(SPRY4):c.206G>T (p.Gly69Val) SNV Uncertain Significance
1344747 GRCh37: 5:141694468-141694468
GRCh38: 5:142314903-142314903
14 GNRH1 NM_001083111.2(GNRH1):c.143T>G (p.Ile48Arg) SNV Uncertain Significance
1344749 GRCh37: 8:25279183-25279183
GRCh38: 8:25421667-25421667
15 FGFR1 NM_023110.3(FGFR1):c.779G>A (p.Gly260Glu) SNV Uncertain Significance
1344750 GRCh37: 8:38282184-38282184
GRCh38: 8:38424666-38424666
16 CHD7 NM_017780.4(CHD7):c.732C>G (p.Ser244Arg) SNV Uncertain Significance
1344751 GRCh37: 8:61654723-61654723
GRCh38: 8:60742164-60742164
17 CHD7 NM_017780.4(CHD7):c.5114C>A (p.Pro1705Gln) SNV Uncertain Significance
1344753 GRCh37: 8:61757872-61757872
GRCh38: 8:60845313-60845313
18 LHX3 NM_178138.6(LHX3):c.934G>A (p.Gly312Ser) SNV Uncertain Significance
1344754 GRCh37: 9:139089431-139089431
GRCh38: 9:136197585-136197585
19 WDR11 NM_018117.12(WDR11):c.16G>A (p.Val6Met) SNV Uncertain Significance
1344755 GRCh37: 10:122610948-122610948
GRCh38: 10:120851436-120851436
20 POLR3B, LOC100287944 NM_018082.6(POLR3B):c.2932C>T (p.Arg978Cys) SNV Uncertain Significance
1344756 GRCh37: 12:106890644-106890644
GRCh38: 12:106496866-106496866
21 KL NM_004795.4(KL):c.2251A>G (p.Arg751Gly) SNV Uncertain Significance
1344758 GRCh37: 13:33635467-33635467
GRCh38: 13:33061330-33061330
22 KL NM_004795.4(KL):c.2534T>G (p.Val845Gly) SNV Uncertain Significance
1344759 GRCh37: 13:33635750-33635750
GRCh38: 13:33061613-33061613
23 DMXL2 NM_001378457.1(DMXL2):c.1687A>G (p.Met563Val) SNV Uncertain Significance
1344760 GRCh37: 15:51828990-51828990
GRCh38: 15:51536793-51536793
24 DMXL2 NM_001378457.1(DMXL2):c.1427C>G (p.Thr476Ser) SNV Uncertain Significance
1344761 GRCh37: 15:51829875-51829875
GRCh38: 15:51537678-51537678
25 DCC NM_005215.4(DCC):c.2455G>A (p.Asp819Asn) SNV Uncertain Significance
1344762 GRCh37: 18:50912508-50912508
GRCh38: 18:53386138-53386138
26 DCC NM_005215.4(DCC):c.2647G>A (p.Val883Ile) SNV Uncertain Significance
1344763 GRCh37: 18:50918216-50918216
GRCh38: 18:53391846-53391846
27 AXL NM_021913.5(AXL):c.874del (p.His292fs) DEL Uncertain Significance
1344764 GRCh37: 19:41743933-41743933
GRCh38: 19:41238028-41238028
28 FLRT3, MACROD2 NM_198391.3(FLRT3):c.1202A>T (p.Gln401Leu) SNV Uncertain Significance
1344765 GRCh37: 20:14306951-14306951
GRCh38: 20:14326305-14326305
29 ANOS1 NM_000216.4(ANOS1):c.1111G>A (p.Val371Ile) SNV Uncertain Significance
1344766 GRCh37: X:8536369-8536369
GRCh38: X:8568328-8568328
30 FEZF1 NM_001024613.4(FEZF1):c.1343A>C (p.Gln448Pro) SNV Uncertain Significance
1344748 GRCh37: 7:121942136-121942136
GRCh38: 7:122302082-122302082
31 SEMA3A NM_006080.3(SEMA3A):c.458A>G (p.Asn153Ser) SNV Uncertain Significance
68836 rs139295139 GRCh37: 7:83689870-83689870
GRCh38: 7:84060554-84060554
32 SPRY4 NM_001127496.3(SPRY4):c.653C>A (p.Ser218Tyr) SNV Uncertain Significance
50874 rs139512218 GRCh37: 5:141694021-141694021
GRCh38: 5:142314456-142314456
33 PROP1 NM_006261.5(PROP1):c.425C>T (p.Ala142Val) SNV Uncertain Significance
196432 rs143790367 GRCh37: 5:177419966-177419966
GRCh38: 5:177992965-177992965
34 ANOS1 NM_000216.4(ANOS1):c.1759G>T (p.Val587Leu) SNV Uncertain Significance
516123 rs137900287 GRCh37: X:8503715-8503715
GRCh38: X:8535674-8535674
35 RAB3GAP2 NM_012414.4(RAB3GAP2):c.1580C>T (p.Pro527Leu) SNV Uncertain Significance
580491 rs149563712 GRCh37: 1:220363770-220363770
GRCh38: 1:220190428-220190428
36 AXL NM_021913.5(AXL):c.1549G>A (p.Gly517Ser) SNV Uncertain Significance
785827 rs35538872 GRCh37: 19:41754430-41754430
GRCh38: 19:41248525-41248525
37 PNPLA6 NM_001166114.2(PNPLA6):c.3955G>A (p.Gly1319Arg) SNV Uncertain Significance
893474 rs140568070 GRCh37: 19:7626135-7626135
GRCh38: 19:7561249-7561249
38 POLR3B NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr) SNV Uncertain Significance
285205 rs199504211 GRCh37: 12:106821117-106821117
GRCh38: 12:106427339-106427339
39 RAB3GAP2 NM_012414.4(RAB3GAP2):c.3616G>T (p.Asp1206Tyr) SNV Uncertain Significance
705733 rs139407102 GRCh37: 1:220327339-220327339
GRCh38: 1:220153997-220153997
40 GNRHR NM_000406.3(GNRHR):c.785G>A (p.Arg262Gln) SNV Uncertain Significance
16024 rs104893837 GRCh37: 4:68606400-68606400
GRCh38: 4:67740682-67740682
41 PROKR2 NM_144773.4(PROKR2):c.254G>A (p.Arg85His) SNV Uncertain Significance
3451 rs74315418 GRCh37: 20:5294762-5294762
GRCh38: 20:5314116-5314116
42 HESX1 NM_003865.3(HESX1):c.385G>A (p.Val129Ile) SNV Uncertain Significance
267733 rs143057250 GRCh37: 3:57232493-57232493
GRCh38: 3:57198465-57198465
43 RAB3GAP1 NM_012233.3(RAB3GAP1):c.1006C>T (p.Arg336Cys) SNV Uncertain Significance
211978 rs150478342 GRCh37: 2:135887597-135887597
GRCh38: 2:135130027-135130027
44 PROKR2 NM_144773.4(PROKR2):c.332T>G (p.Met111Arg) SNV Uncertain Significance
633661 rs914930539 GRCh37: 20:5294684-5294684
GRCh38: 20:5314038-5314038
45 PROKR2 NM_144773.4(PROKR2):c.1019C>G (p.Thr340Ser) SNV Uncertain Significance
1184526 GRCh37: 20:5282822-5282822
GRCh38: 20:5302176-5302176
46 CHD7 NM_017780.4(CHD7):c.7579A>C (p.Met2527Leu) SNV Uncertain Significance
158317 rs192129249 GRCh37: 8:61769418-61769418
GRCh38: 8:60856859-60856859
47 DCC NM_005215.4(DCC):c.1409G>A (p.Gly470Asp) SNV Uncertain Significance
187790 rs141813053 GRCh37: 18:50683873-50683873
GRCh38: 18:53157503-53157503
48 CHD7 NM_017780.4(CHD7):c.5824C>T (p.Arg1942Trp) SNV Uncertain Significance
529141 rs200441929 GRCh37: 8:61764736-61764736
GRCh38: 8:60852177-60852177
49 CHD7 NM_017780.4(CHD7):c.1375C>T (p.Arg459Cys) SNV Uncertain Significance
581160 rs753953205 GRCh37: 8:61655366-61655366
GRCh38: 8:60742807-60742807
50 CHD7 NM_017780.4(CHD7):c.2182G>C (p.Asp728His) SNV Uncertain Significance
588393 rs756365280 GRCh37: 8:61707630-61707630
GRCh38: 8:60795071-60795071

Expression for Amenorrhea

Search GEO for disease gene expression data for Amenorrhea.

Pathways for Amenorrhea

Pathways related to Amenorrhea according to GeneCards Suite gene sharing:

(show all 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.79 BMP15 FOXL2 FSHB IGF1 INS LEP
2 13.52 WNT4 POMC LHCGR LHB LEP INS
3
Show member pathways
13.42 WNT4 POMC LHCGR LHB GNRH1 FSHR
4
Show member pathways
13.16 WNT4 POMC LHCGR LHB GNRH1 FSHR
5
Show member pathways
12.43 NR5A1 LHCGR LHB FSHR FSHB
6
Show member pathways
11.96 POMC LHB LEP INS IGF1 FSHB
7
Show member pathways
11.74 POMC LHB CYP17A1
8 11.68 WNT4 LEP INS IGF1
9
Show member pathways
11.64 POMC LHCGR LHB FSHR FSHB CRH
10 11.58 LHB IGF1 GNRH1 GDF9
11 11.48 POMC INS GNRH1
12
Show member pathways
11.38 WNT4 NR5A1 FOXL2
13 11.33 PRL LEP INS
14 11.21 BMP15 FSHR GDF9
15 11.18 FSHR GDF9 LHCGR NR5A1
16 10.87 LHB IGF1 GNRH1 GDF9 BMP15
17 10.85 SHBG GNRH1
18 10.79 WNT4 FOXL2
19 10.76 PRL POMC LEP INS
20 10.38 POMC CRH
21 10.1 LHCGR LHB GNRH1 FSHR FSHB

GO Terms for Amenorrhea

Cellular components related to Amenorrhea according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.03 WNT4 SHBG PRL POMC LHB LEP
2 extracellular space GO:0005615 9.74 BMP15 CRH FSHB GDF9 GNRH1 IGF1

Biological processes related to Amenorrhea according to GeneCards Suite gene sharing:

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.36 CRH FSHR GDF9 GNRH1 IGF1 INS
2 positive regulation of cell population proliferation GO:0008284 10.35 PRL LEP INS IGF1 GDF9 FSHB
3 female pregnancy GO:0007565 10.1 CRH FSHB LEP PRL
4 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 10.08 LEP INS IGF1 FSHR
5 adrenal gland development GO:0030325 9.99 WNT4 NR5A1 CRH
6 hormone-mediated signaling pathway GO:0009755 9.97 NR5A1 LHCGR LHB FSHR
7 male gonad development GO:0008584 9.96 FSHR LHB LHCGR NR5A1 WNT4
8 regulation of protein phosphorylation GO:0001932 9.92 LEP IGF1 FSHR
9 Sertoli cell differentiation GO:0060008 9.92 WNT4 NR5A1
10 glucocorticoid biosynthetic process GO:0006704 9.91 CRH CYP17A1
11 bone mineralization involved in bone maturation GO:0035630 9.9 IGF1 LEP
12 positive regulation of follicle-stimulating hormone secretion GO:0046881 9.89 FOXL2 LEP
13 hormone metabolic process GO:0042445 9.88 WNT4 NR5A1 LEP
14 positive regulation of luteinizing hormone secretion GO:0033686 9.87 FOXL2 LEP
15 follicle-stimulating hormone signaling pathway GO:0042699 9.86 FSHB FSHR
16 negative regulation of glucagon secretion GO:0070093 9.85 CRH LEP
17 progesterone biosynthetic process GO:0006701 9.84 FSHB LHB
18 uterus development GO:0060065 9.83 LHCGR FSHR FOXL2
19 Sertoli cell proliferation GO:0060011 9.76 FSHR FSHB
20 female gamete generation GO:0007292 9.76 GDF9 FSHR FSHB BMP15
21 ovulation cycle process GO:0022602 9.75 LHCGR FSHR
22 regulation of steroid biosynthetic process GO:0050810 9.72 NR5A1 LHCGR LEP
23 oocyte growth GO:0001555 9.7 GDF9 FOXL2
24 ovarian follicle development GO:0001541 9.56 LHCGR FSHR FSHB FOXL2 BMP15
25 female gonad development GO:0008585 9.23 WNT4 NR5A1 LHCGR FSHR FOXL2

Molecular functions related to Amenorrhea according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 9.61 WNT4 POMC LHB LEP FSHB CRH
2 hormone activity GO:0005179 9.55 PRL POMC LHB LEP INS IGF1
3 type I activin receptor binding GO:0070698 9.46 GDF9 BMP15
4 protein-hormone receptor activity GO:0016500 9.26 LHCGR FSHR

Sources for Amenorrhea

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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