POF7
MCID: PRM093
MIFTS: 59

Premature Ovarian Failure 7 (POF7)

Categories: Bone diseases, Endocrine diseases, Genetic diseases, Rare diseases, Reproductive diseases
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Aliases & Classifications for Premature Ovarian Failure 7

MalaCards integrated aliases for Premature Ovarian Failure 7:

Name: Premature Ovarian Failure 7 57 73 28 12 5 71
Adrenocortical Insufficiency 57 16 33
Adrenal Insufficiency, Nr5a1-Related 73 5
Pof7 57 73
Ovarian Failure, Premature, Type 7 38
Corticoadrenal Insufficiency Nos 33
Adrenal Cortical Hypofunction 71
Adrenocortical Hypofunction 33
Adrenal Cortex Hypofunction 33
Adrenal Gland Insufficiency 33
Corticoadrenal Hypofunction 33
Adrenal Cortex Deficiency 33
Corticoadrenal Deficiency 33
Suprarenal Insufficiency 33
Aldosterone Deficiency 33
Adrenal Insufficiency 33
Adrenal Hypofunction 33
Adrenal Failure Nos 33
Hypoadrenocorticism 33
Hypoaldosteronism 71
Hypoadrenalism 33
Hypoadrenia 33
Ainr 73

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
familial cases may have affected 46,xy family members who exhibit sex reversal (see srxy3, )


Classifications:



External Ids:

OMIM® 57 612964
OMIM Phenotypic Series 57 PS311360
UMLS 71 C0020595 C0405580 C2751825

Summaries for Premature Ovarian Failure 7

UniProtKB/Swiss-Prot 73 Premature ovarian failure 7: An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol.

Adrenal insufficiency, nr5a1-related: A disorder characterized by adrenal insufficiency, muscular hypotonia, decreased sodium and increased potassium levels, elevated ACTH, salt- wasting crisis, prolonged jaundice, hypoglycemia, and vomiting.

MalaCards based summary: Premature Ovarian Failure 7, also known as adrenocortical insufficiency, is related to corticosterone methyloxidase type i deficiency and hypoadrenocorticism, familial. An important gene associated with Premature Ovarian Failure 7 is NR5A1 (Nuclear Receptor Subfamily 5 Group A Member 1), and among its related pathways/superpathways are G-Beta Gamma Signaling and Peptide hormone metabolism. The drugs Triamcinolone and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include adrenal cortex, adrenal gland and cortex, and related phenotypes are premature ovarian insufficiency and primary amenorrhea

More information from OMIM: 612964 PS311360

Related Diseases for Premature Ovarian Failure 7

Diseases in the Premature Ovarian Failure 2a family:

Premature Ovarian Failure 2b Premature Ovarian Failure 1
Premature Ovarian Failure 3 Premature Ovarian Failure 5
Premature Ovarian Failure 6 Premature Ovarian Failure 10
Premature Ovarian Failure 7 Premature Ovarian Failure 8
Premature Ovarian Failure 9 Premature Ovarian Failure 11
Premature Ovarian Failure 12 Premature Ovarian Failure 13
Premature Ovarian Failure 14 Premature Ovarian Failure 15
Premature Ovarian Failure 16 Premature Ovarian Failure 17
Premature Ovarian Failure 18 Premature Ovarian Failure 19
Premature Ovarian Failure 20 Acquired Premature Ovarian Failure

Diseases related to Premature Ovarian Failure 7 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 938)
# Related Disease Score Top Affiliating Genes
1 corticosterone methyloxidase type i deficiency 32.4 POMC NR5A1
2 hypoadrenocorticism, familial 31.9 POMC NR5A1 CRH
3 acth deficiency, isolated 31.9 POMC CRH
4 waterhouse-friderichsen syndrome 31.8 POMC CRH
5 pituitary apoplexy 31.3 POMC GH1
6 lipoid congenital adrenal hyperplasia 31.3 POMC NR5A1 CRH
7 familial glucocorticoid deficiency 30.7 POMC NR5A1
8 adrenal hypoplasia, congenital 30.5 POMC NR5A1
9 inappropriate adh syndrome 30.5 POMC CRH
10 adult syndrome 30.1 POMC CRH
11 46,xy sex reversal 30.0 POMC NR5A1
12 cryptorchidism, unilateral or bilateral 29.9 POMC NR5A1
13 paine syndrome 29.9 POMC CRH
14 craniopharyngioma 29.9 NR5A1 GH1
15 acth-secreting pituitary adenoma 29.8 POMC CRH
16 hypoglycemia 29.8 POMC GH1 CRH
17 hyperthyroidism 29.8 POMC GH1
18 amenorrhea 29.8 POMC NR5A1 CRH
19 adrenal cortical adenoma 29.8 POMC NR5A1
20 hyperprolactinemia 29.8 POMC GH1
21 acquired immunodeficiency syndrome 29.8 POMC CRH
22 adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete 29.7 POMC NR5A1
23 withdrawal disorder 29.7 POMC CRH
24 glycerol kinase deficiency 29.7 POMC NR5A1
25 disorder of sexual development 29.7 POMC NR5A1 GH1
26 sheehan syndrome 29.7 POMC GH1 CRH
27 pseudohermaphroditism 29.6 POMC NR5A1
28 adrenal adenoma 29.6 POMC CRH
29 prolactinoma 29.6 POMC GH1
30 pain agnosia 29.6 POMC CRH
31 pituitary adenoma 29.6 POMC GH1 CRH
32 generalized anxiety disorder 29.6 POMC CRH
33 hypokalemia 29.6 POMC CRH
34 hypopituitarism 29.6 POMC GH1 CRH
35 alcohol use disorder 29.6 POMC CRH
36 fibromyalgia 29.5 POMC CRH
37 irritable bowel syndrome 29.5 POMC CRH
38 adrenal cortical hypofunction 29.5 POMC NR5A1 CRH
39 acne 29.5 POMC CRH
40 pituitary-dependent cushing's disease 29.5 POMC GH1 CRH
41 empty sella syndrome 29.5 POMC GH1
42 adenoma 29.5 POMC GH1 CRH
43 central diabetes insipidus 29.5 POMC GH1
44 pituitary gland disease 29.5 POMC GH1 CRH
45 leptin deficiency or dysfunction 29.5 POMC CRH
46 pituitary hormone deficiency, combined, 2 29.5 POMC GH1
47 conn's syndrome 29.4 POMC NR5A1 GH1 CRH
48 septooptic dysplasia 29.4 POMC GH1
49 hypothyroidism, congenital, nongoitrous, 4 29.4 POMC GH1
50 panic disorder 29.4 POMC CRH

Comorbidity relations with Premature Ovarian Failure 7 via Phenotypic Disease Network (PDN): (show all 15)


Active Peptic Ulcer Disease Acute Cystitis
Bronchitis Conn's Syndrome
Deficiency Anemia Esophagitis
Familial Atrial Fibrillation Heart Disease
Hypothyroidism Osteoporosis
Pituitary Hormone Deficiency, Combined, 2 Protein-Energy Malnutrition
Respiratory Failure Rheumatoid Arthritis
Temporal Arteritis

Graphical network of the top 20 diseases related to Premature Ovarian Failure 7:



Diseases related to Premature Ovarian Failure 7

Symptoms & Phenotypes for Premature Ovarian Failure 7

Human phenotypes related to Premature Ovarian Failure 7:

30 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 premature ovarian insufficiency 30 Very rare (1%) HP:0008209
2 primary amenorrhea 30 Very rare (1%) HP:0000786
3 secondary amenorrhea 30 Very rare (1%) HP:0000869
4 absent pubic hair 30 Very rare (1%) HP:0002555
5 hypoplasia of the uterus 30 Very rare (1%) HP:0000013
6 clitoral hypertrophy 30 Very rare (1%) HP:0008665
7 elevated circulating follicle stimulating hormone level 30 Very rare (1%) HP:0008232
8 elevated circulating luteinizing hormone level 30 Very rare (1%) HP:0011969
9 gonadal dysgenesis 30 HP:0000133

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Genitourinary Internal Genitalia Female:
secondary amenorrhea
irregular menstrual cycles
primary amenorrhea (in some patients)
anovulatory menstrual cycles
primary ovarian insufficiency
more
Chest Breasts:
absent thelarche (in some patients)
small breasts (in some patients)

Skin Nails Hair Hair:
absent pubic hair (in some patients)

Endocrine Features:
low estradiol
elevated luteinizing hormone (lh)
elevated follicle-stimulating hormone (fsh)

Genitourinary External Genitalia Female:
hypertrophic clitoris (in some patients)

Clinical features from OMIM®:

612964 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Premature Ovarian Failure 7 according to GeneCards Suite gene sharing:

25 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.4 POMC
2 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.4 GH1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.4 GH1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-135 9.4 GH1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-139 9.4 GH1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.4 GH1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.4 GH1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.4 POMC
9 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.4 GH1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.4 GH1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-88 9.4 POMC
12 Increased shRNA abundance (Z-score > 2) GR00366-A-96 9.4 GH1

MGI Mouse Phenotypes related to Premature Ovarian Failure 7:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 8.92 CRH GH1 NR5A1 POMC

Drugs & Therapeutics for Premature Ovarian Failure 7

Drugs for Premature Ovarian Failure 7 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 188)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
2
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
3
Tannic acid Approved Phase 4 1401-55-4 16129878 16129778
4
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
5
Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
6
Prednisolone Approved, Vet_approved Phase 4 50-24-8 4894 5755
7
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
8
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5 1875
9
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 4159 6741
10
Cortisone Experimental Phase 4 53-06-5 222786
11
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7 4897
12 Immunologic Factors Phase 4
13
Triamcinolone hexacetonide Phase 4
14
Triamcinolone diacetate Phase 4
15
Triamcinolone Acetonide Phase 4 6436
16 Immunosuppressive Agents Phase 4
17 Tin Fluorides Phase 4
18 Hydrocortisone-17-butyrate Phase 4
19 Neuroprotective Agents Phase 4
20 Vasoconstrictor Agents Phase 4
21
Methylprednisolone Acetate Phase 4 584547
22 Protective Agents Phase 4
23
Prasterone Approved, Investigational, Nutraceutical Phase 3 53-43-0 5881
24 DHEA (Dehydroepiandrosterone) Phase 3
25 Adjuvants, Immunologic Phase 3
26
Progesterone Approved, Vet_approved Phase 2 57-83-0 5994
27
Mifepristone Approved, Investigational Phase 2 84371-65-3 55245
28 Follicle Stimulating Hormone Phase 1, Phase 2
29 Insulin, Globin Zinc Phase 2
30
Insulin Phase 2
31 Contraceptives, Postcoital Phase 2
32 Contraceptives, Oral Phase 2
33 Contraceptive Agents Phase 2
34 Mineralocorticoids Phase 2
35
Estradiol Approved, Investigational, Vet_approved Phase 1 50-28-2 5757
36
Polyestradiol phosphate Approved Phase 1 28014-46-2
37 Estradiol 3-benzoate Phase 1
38 Estradiol 17 beta-cypionate Phase 1
39 Melanocyte-Stimulating Hormones Phase 1
40 Adrenocorticotropic Hormone Phase 1
41
beta-Endorphin Phase 1
42
Mitotane Approved 53-19-0 4211
43
Lidocaine Approved, Vet_approved 137-58-6 3676
44
Etomidate Approved 33125-97-2 667484
45
Fentanyl Approved, Illicit, Investigational, Vet_approved 437-38-7 3345
46
Midazolam Approved, Illicit 59467-70-8 4192
47
Succinylcholine Approved 306-40-1, 71-27-2 5314
48
Metyrapone Approved, Investigational 54-36-4 4174
49
Megestrol acetate Approved, Investigational, Vet_approved 595-33-5 11683
50
Budesonide Approved 51333-22-3 5281004 40000 63006

Interventional clinical trials:

(show top 50) (show all 116)
# Name Status NCT ID Phase Drugs
1 Optimising Steroid Replacement in Patients With Adrenal Insufficiency Unknown status NCT03282487 Phase 4 Modified release hydrocortisone
2 Effect of Treatment With Stress-Doses Glucocorticoid on Mortality in Patients With ARDS and Relative Adrenal Insufficiency Unknown status NCT00773058 Phase 4 hydrocortisone;placebo
3 Effect of Modified-release Compared to Conventional Hydrocortisone on Fatigue, Measured by Ecological Momentary Assessments; a Pilot Study. Unknown status NCT02282150 Phase 4 Hydrocortisone;Plenadren
4 A Randomized, Controlled, Multi-Centre Trial on the Effects of Dual-release Hydrocortisone Preparations Versus Conventional Glucocorticoid Replacement Therapy in Patients Affected by Primary and Secondary Adrenal Insufficiency. DREAM Trial. Completed NCT02277587 Phase 4 Plenadren;Conventional glucocorticoid therapy
5 Dexamethasone-suppression-test Predicts Later Development of Adrenal Insufficiency After a 14 Days' Course of Prednisone in Healthy Volunteers Completed NCT00975078 Phase 4 prednisone
6 A Randomized Double Blind Cross-over Study of the Effects of Low Dose and High Dose Hydrocortisone Replacement Therapy on Cognition, Quality of Life, Metabolic Profile and Somatosensation in Patients With Secondary Adrenal Insufficiency Completed NCT01546922 Phase 4 Hydrocortisone
7 Saliva Cortisol Measurement for the Assessment of Hydrocortisone Replacement Therapy in Secondary Adrenal Insufficiency Patients Completed NCT05457296 Phase 4 Hydrocortisone (capsule)
8 Determination of Method-specific Normal Cortisol and Adrenal Hormone Responses to the Short Synacthen Test Completed NCT00851942 Phase 4 Synacthen (Tetracosactrin)
9 Evaluation of Efficacy and Hypothalamus-pituitary-adrenal Axis Suppression Due to a Single Intrabursal Injection of Corticosteroids in Patients With Shoulder Calcific Tendinopathy Completed NCT01652495 Phase 4 methylprednisolone acetate;Triamcinolone Acetonide
10 Revival of Autochthonous Adrenocortical Stem Cells in Autoimmune Addison's Disease Completed NCT01371526 Phase 4 depot tetracosactide
11 Glucocorticoid Withdrawal and Glucocorticoid-induced Adrenal Insufficiency: a Randomized Controlled Multicenter Trial Recruiting NCT03153527 Phase 4 Prednisone
12 A Randomised, Placebo Controlled to Compare the Effect of Hydrocortisone and Placebo in Patients With Partial Adrenal Insufficiency After Cessation of Glucocorticoid Treatment Recruiting NCT05193396 Phase 4 Hydrocortisone;Placebo
13 RESCUE - Effect of Supplemental Hydrocortisone During Stress in Prednisolone-induced Adrenal Insufficiency; A Multicentre, Randomised, Double Blinded, Placebo-controlled Clinical Trial on Health-related Quality of Life in Patients With Polymyalgia Rheumatica/Giant Cell Arteritis Receiving Ongoing Low-dose Prednisolone Treatment. Recruiting NCT05435781 Phase 4 Hydrocortisone;Placebo for hydrocortisone
14 An Open-label, Prospective, Randomized, Controlled Clinical Trial of the Use of Reduced Duration Versus Standard Duration Steroid Replacement Therapy for Acute Adrenal Insufficiency in Patients With Septic Shock Terminated NCT00842933 Phase 4 Corticosteroid
15 Phase IV Study to Evaluate the Neuropsychological Effects of Hydrocortisone Substitution in Patients With Partial Adrenal Insufficiency After Traumatic Brain Injury or Subarachnoidal Haemorrhage Terminated NCT01089075 Phase 4 Hydrocortisone;Placebo
16 A Blinded, Placebo Controlled Trial of Hydrocortisone Versus Hydrocortisone Plus Fludrocortisone for the Treatment of Adrenal Insufficiency in Severe Sepsis Withdrawn NCT00368381 Phase 4 Hydrocortisone
17 Comparison of Intramuscular and Intravenous ACTH Stimulation Test in Normal Volunteers Withdrawn NCT03752190 Phase 4 Cosyntropin
18 The Effect of Dexamethasone on Plasma Cortisol Levels, Pain and PONV in Female Patients Undergoing Thyroid Surgery Withdrawn NCT01045876 Phase 4 Dexamethasone
19 Interest of Treatment of Polytraumatisms With Corticoids (Hydrocortisone) for Patient With Relative Adrenocortical Insufficiency Completed NCT00563303 Phase 2, Phase 3 hydrocortisone;NaCl
20 Open-label, Long-term Follow-up of Safety and Biochemical Disease Control of Infacort® in Neonates, Infants and Children With Congenital Adrenal Hyperplasia and Adrenal Insufficiency Previously Enrolled in the Infacort 003 Study Completed NCT02733367 Phase 3 Infacort®
21 A Phase 3 Open-label Study of Infacort® in Neonates, Infants and Children Less Than 6 Years of Age With Adrenal Insufficiency Completed NCT02720952 Phase 3 Infacort®
22 Dehydroepiandrosterone(DHEA) Substitution in Adolescent and Young Women With Central Adrenal Insufficiency. A Multicenter, Randomised Double Blind Trial Completed NCT00575341 Phase 3 Dehydroepiandrosterone;placebo
23 Is Adrenal Insufficiency Under-diagnosed in Hospitalized Cirrhosis Patients? Completed NCT03368066 Phase 3 Cosyntropin
24 Phase III Randomized, Double-Blind, Placebo-Controlled Study of Dehydroepiandrosterone Replacement for Primary Adrenal Insufficiency Completed NCT00004313 Phase 3 dehydroepiandrosterone
25 A, Randomised, Controlled, Two-armed, Two-period Cross-over, Multi-centre Phase II/III Study to Assess the Safety and Pharmacokinetics of Once-daily Oral Modified-release Hydrocortisone in Patients With Adrenal Insufficiency Completed NCT00915343 Phase 2, Phase 3 hydrocortisone (modified release), oral tablet 20 and 5 mg;Hydrocortisone, oral tablet, 10 mg
26 Phase 3 Study of Hydrocortisone and Fludrocortisone in Glucocorticoid Insufficiency Related to Traumatic Brain Injury Completed NCT01093261 Phase 3 Placebo;Hydrocortisone Fludrocortisone
27 Safety and Efficacy of Prednisolone in Adrenal Insufficiency Disease (PRED-AID Study) Recruiting NCT03936517 Phase 3 Prednisolone;Hydrocortisone
28 Platelet Rich Plasma Ovarian in Vitro Activation and Stem Cells Transplantation In Women With Ovarian Failure Unknown status NCT04009473 Phase 1, Phase 2
29 Adrenal Insufficiency in Cirrhotics With Ascites. Effects of Stress Doses of Hydrocortisone on Renal Function and on Liver and Systemic Haemodynamics Unknown status NCT00657306 Phase 2 hydrocortisone;dextrose solution 5%
30 Pharmacokinetics of Hydrocortisone After Subcutaneous Administration Compared With Intramuscular Injection in Chronic Adrenal Insufficiency Completed NCT01450930 Phase 2 Hydrocortisone intramuscular first;Hydrocortisone subcutaneously first
31 A Pilot Study Assessing the Use of Continuous Subcutaneous Hydrocortisone Infusion in the Treatment of Congenital Adrenal Hyperplasia Completed NCT01859312 Phase 2 Hydrocortisone (Solucortef)
32 Vaginal Prednisone Administration for Prevention of Adrenal Crisis - a Bioequivalence Study Completed NCT02689960 Phase 2 100mg prednisone suppository
33 A Phase 2 Pilot Study to Characterize and Examine the Pharmacokinetics and Disease Bio-marker Response of Chronocort® in Adults With Congenital Adrenal Hyperplasia Completed NCT01735617 Phase 2 Hydrocortisone Modified Release Capsules
34 Impact of the Administration of Fludrocortisone on Fluid and Electrolyte Balance in Very Premature Infants: Pilot Study Completed NCT03001089 Phase 2 Oral Fludrocortisone (enteral);Placebo Oral Tablet
35 A Double-Blind, Double-Dummy, Two-Way Cross-Over, Randomised, Phase II Study of Efficacy, Safety and Tolerability of Modified-Release Hydrocortisones: Chronocort® Versus Plenadren®, in Adrenal Insufficiency Recruiting NCT05222152 Phase 2 Chronocort;Plenadren
36 Mifepristone Dynamic Testing for Diagnosis for Central Adrenal Insufficiency Terminated NCT04588688 Phase 2 Mifepristone
37 Autologous Platelet-Rich Plasma (PRP) Infusions and Biomarkers of Ovarian Rejuvenation and Aging Mitigation Completed NCT03178695 Phase 1
38 A Single Centre, Open-label, Randomised, Single Dose, Two Period, Crossover Relative Bioavailability Study of Chronocort® Versus Cortef® Immediate Release Hydrocortisone Tablets in Dexamethasone-suppressed Healthy Adult Male Subjects. Completed NCT03343327 Phase 1 Chronocort®;Cortef®
39 A Two-part Open Label, Randomised, Single Dose, Crossover Study in Healthy Volunteers to: (Part A) Compare the Pharmacokinetics of up to 6 Chronocort® Formulations, and (Part B) Determine the Dose Proportionality of a Selected Chronocort® Formulation at Three Dose Levels With an Additional Comparison With the Selected Formulation Dosed on Two Occasions Over a 24 Hour Period Completed NCT03051893 Phase 1 Chronocort
40 A Two-part, Single Centre, Open-label, Randomised, Single Dose, Two-period, Crossover, Relative Bioavailability Study of Infacort® Versus Cortef® in Dexamethasone-suppressed Healthy Adult Male and Female Subjects in the Fasted and Fed States. Completed NCT03311932 Phase 1 Infacort®;Cortef®
41 An Open Label, Partially Randomised, Single Dose, Crossover Study to Evaluate the PK, Oral Bioavailability and Relationship to Metabolic Parameters of Hydrocortisone and Infacort® in Healthy Adult Male Volunteers. Completed NCT01960530 Phase 1 Hydrocortisone granules;Hydrocortisone Tablet;i.v. Hydrocortisone Injection
42 An Open Label, Randomised, Single Dose, 3-period Crossover Study in Healthy Volunteers to: a) Compare the Pharmacokinetics of Chronocort® Formulations Versus Immediate Release Hydrocortisone, and (b) Determine the Dose Proportionality of Chronocort® Formulations Completed NCT03019614 Phase 1 Hydrocortisone;Chronocort
43 A Single Centre, Open-label, Randomised, Single Dose, Three-period, Crossover Study to Evaluate the Bioavailability of Infacort Administered as Sprinkles With Soft Food and Yoghurt Compared With Direct Administration to the Back of the Tongue in Dexamethasone-suppressed Healthy Adult Male Subjects Completed NCT03178214 Phase 1 Infacort
44 Circadian Function and Cardio-metabolic Risk in Adrenal Insufficiency: a Case Control Study Unknown status NCT03000231
45 Prevalence of Adrenal Insufficiency Post-chemotherapy Adrenocorticotropia in Adult Hematology Unknown status NCT03688789
46 The Significance of Defensin Alpha 4 in the Pathophysiology of the Adrenal Insufficiency in Inflammatory Lung Diseases Unknown status NCT01703013
47 Adherence and Perception With Hormone Replacement Therapy in Chronic Adrenal Insufficiency - Influence of a Standardized Patient Education Unknown status NCT03399383
48 Objective Markers and New Indicators in Adrenal Insufficiency Disease (OMNI-AID Study) Unknown status NCT03615859
49 Mass Spectrometry Based Cutoffs for Cortisol and 17-hydroxy-progesterone (17-OH-progesterone) After Stimulation Tests for Primary and Secondary Adrenal Insufficiency. Unknown status NCT02818660 Synachten
50 Prevalence of Adrenal Insufficiency in Kidney Transplanted Patients (NTx) in Glucocorticoid Treatment Unknown status NCT03136562

Search NIH Clinical Center for Premature Ovarian Failure 7

Genetic Tests for Premature Ovarian Failure 7

Genetic tests related to Premature Ovarian Failure 7:

# Genetic test Affiliating Genes
1 Premature Ovarian Failure 7 28 NR5A1

Anatomical Context for Premature Ovarian Failure 7

Organs/tissues related to Premature Ovarian Failure 7:

MalaCards : Adrenal Cortex, Adrenal Gland, Cortex, Pituitary, Hypothalamus, Whole Blood, Thyroid

Publications for Premature Ovarian Failure 7

Articles related to Premature Ovarian Failure 7:

(show top 50) (show all 8689)
# Title Authors PMID Year
1
Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort. 62 57 5
26523528 2016
2
Mutations in NR5A1 associated with ovarian insufficiency. 62 57 5
19246354 2009
3
Apparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive steroidogenic factor 1 (NR5A1/SF-1) and adrenocortical insufficiency. 62 57 5
11038323 2000
4
Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner. 57 5
11932325 2002
5
Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders. 5
34008892 2021
6
A 46,XX Ovotesticular Disorder of Sex Development Likely Caused by a Steroidogenic Factor-1 (NR5A1) Variant. 5
27855412 2017
7
Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals. 57
28033660 2016
8
Screening and familial characterization of copy-number variations in NR5A1 in 46,XY disorders of sex development and premature ovarian failure. 57
23918653 2013
9
Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1. 5
20887963 2010
10
Pro-opiomelanocortin modulates the thermogenic and physical activity responses to high-fat feeding and markedly influences dietary fat preference. 53 62
17717049 2007
11
Corticotrope hypersecretion coupled with cortisol hypo-responsiveness to stimuli is present in patients with autoimmune endocrine diseases: evidence for subclinical primary hypoadrenalism? 53 62
16914596 2006
12
Heterozygosity for a POMC-null mutation and increased obesity risk in humans. 53 62
16936203 2006
13
The low-dose (1 microg) adrenocorticotropin stimulation test in kidney and kidney-pancreas transplant patients: a potential guideline for steroid withdrawal. 53 62
16556157 2006
14
Acromegaly as an endocrine form of myopathy: case report and review of literature. 53 62
16033731 2005
15
A missense mutation disrupting a dibasic prohormone processing site in pro-opiomelanocortin (POMC) increases susceptibility to early-onset obesity through a novel molecular mechanism. 53 62
12165561 2002
16
Comparison of adrenocorticotropin (ACTH) stimulation tests and insulin hypoglycemia in normal humans: low dose, standard high dose, and 8-hour ACTH-(1-24) infusion tests. 53 62
10523009 1999
17
CRH and lysine-vasopressin stimulation tests in the diagnosis of hypoadrenalism secondary to hypothalamic or pituitary disorders. 53 62
2169450 1990
18
Chronotherapy based on modified-release hydrocortisone to restore the physiological cortisol diurnal rhythm. 62
35618893 2023
19
Laboratory Diagnosis of Thyroid and Adrenal Disease. 62
36270846 2023
20
Longitudinal assessment of adrenocortical steroid and steroid precursor response to illness in hospitalized foals. 62
36162341 2023
21
Levoketoconazole in the treatment of patients with endogenous Cushing's syndrome: a double-blind, placebo-controlled, randomized withdrawal study (LOGICS). 62
36085339 2022
22
High prevalence of overweight/obesity and dyslipidemia in patients with intracranial germ cell tumors. 62
36088446 2022
23
Treatment of Cushing's syndrome with osilodrostat: practical applications of recent studies with case examples. 62
36002784 2022
24
Levoketoconazole treatment in endogenous Cushing's syndrome: extended evaluation of clinical, biochemical, and radiologic outcomes. 62
36251618 2022
25
Posterior hypothalamic involvement on pre-operative MRI predicts hypothalamic obesity in craniopharyngiomas. 62
36462067 2022
26
How I Approach It: Adrenal Insufficiency in Cirrhosis. 62
35980083 2022
27
Quality of Life in Patients with Adrenal Insufficiency. 62
36244690 2022
28
Fluconazole-Induced adrenal insufficiency following allogeneic hematopoietic cell transplant. 62
35289200 2022
29
Efficacy and safety of osilodrostat in paraneoplastic Cushing's syndrome: a real-world multicenter study in France. 62
36470583 2022
30
Screening patients with autoimmune endocrine disorders for cytokine autoantibodies reveals monogenic immune deficiencies. 62
36191466 2022
31
The first report of a known 4A syndrome patient with suspected manifestations of COVID-19, what was the final outcome? 62
36440457 2022
32
Giant prolactinoma in children and adolescents: a single-center experience and systematic review. 62
35851929 2022
33
Prevalence and characteristics of factitious hypoglycaemia in non-diabetic patients in a department of endocrinology. 62
36117266 2022
34
The transition from paediatric to adult care in individuals with Prader-Willi syndrome. 62
36347048 2022
35
Recurrent Cushing Syndrome From Metastatic Adrenocortical Carcinoma With Fumarate Hydratase Allelic Variant. 62
36447829 2022
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Side-chain cleavage enzyme deficiency: Systematic review and case series. 62
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Mineralocorticoids induce polyuria by reducing apical aquaporin-2 expression of the kidney in partial vasopressin deficiency. 62
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38
Addison's disease without hyperpigmentation in pediatrics: pointing towards specific causes. 62
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39
A Single-Center, Observational Study of 607 Children and Young People Presenting With Differences of Sex Development (DSD). 62
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40
Assessment of adrenal function in pediatric cancer survivors. 62
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41
End-of-life impact of concurrent diabetes mellitus and adrenal insufficiency as immune-related adverse events in an advanced non-small cell lung cancer patient. 62
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42
Heterogeneous natural history of Addison's disease: mineralocorticoid deficiency may predominate. 62
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43
[Hyperpigmentation reveals Addison's disease in a pregnant woman]. 62
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44
Combined Central Hypothyroidism and Adrenal Insufficiency Associated with Retinoic Acid Therapy for Cutaneous T-Cell Lymphoma. 62
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45
International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy: A Consensus-Based Approach. 62
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An update on the diagnosis and treatment of adrenoleukodystrophy. 62
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47
Pituitary Abscess Causing Hypopituitarism in a Patient With Acquired Immunodeficiency Syndrome. 62
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Congenital adrenal calcifications as the first clinical indication of sphingosine lyase insufficiency syndrome: A case report and review of the literature. 62
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Indications for ordering thyroid-stimulating hormone in noncritically ill adult inpatients-A Delphi consensus recommendation. 62
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Acute adrenal insufficiency in a patient with panhypopituitarism after vaccination against COVID-19 (BNT162b2 Pfizer-BioNTech). 62
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Variations for Premature Ovarian Failure 7

ClinVar genetic disease variations for Premature Ovarian Failure 7:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NR5A1 NM_004959.5(NR5A1):c.764G>T (p.Arg255Leu) SNV Pathogenic
12795 rs104894118 GRCh37: 9:127262475-127262475
GRCh38: 9:124500196-124500196
2 NR5A1 NM_004959.5(NR5A1):c.666del (p.Asn222fs) DEL Pathogenic
12804 rs606231206 GRCh37: 9:127262573-127262573
GRCh38: 9:124500294-124500294
3 NR5A1 NM_004959.5(NR5A1):c.877G>A (p.Asp293Asn) SNV Pathogenic
12805 rs121918655 GRCh37: 9:127255422-127255422
GRCh38: 9:124493143-124493143
4 NR5A1 NM_004959.5(NR5A1):c.3G>A (p.Met1Ile) SNV Pathogenic
12806 rs121918656 GRCh37: 9:127265672-127265672
GRCh38: 9:124503393-124503393
5 NR5A1 NM_004959.5(NR5A1):c.390del (p.Pro131fs) DEL Pathogenic
12807 rs606231207 GRCh37: 9:127262849-127262849
GRCh38: 9:124500570-124500570
6 NR5A1 NM_004959.5(NR5A1):c.682CTGCAGCTG[1] (p.228LQL[1]) MICROSAT Pathogenic
12808 rs606231208 GRCh37: 9:127262540-127262548
GRCh38: 9:124500261-124500269
7 NR5A1 NM_004959.5(NR5A1):c.275G>A (p.Arg92Gln) SNV Pathogenic
12796 rs104894119 GRCh37: 9:127262964-127262964
GRCh38: 9:124500685-124500685
8 NR5A1 NM_004959.5(NR5A1):c.368G>C (p.Gly123Ala) SNV Pathogenic
12809 rs200163795 GRCh37: 9:127262871-127262871
GRCh38: 9:124500592-124500592
9 NR5A1 NM_004959.5(NR5A1):c.578T>A (p.Ile193Asn) SNV Likely Pathogenic
1299627 GRCh37: 9:127262661-127262661
GRCh38: 9:124500382-124500382
10 NR5A1 NM_004959.5(NR5A1):c.179C>T (p.Thr60Met) SNV Uncertain Significance
1319067 GRCh37: 9:127265423-127265423
GRCh38: 9:124503144-124503144

UniProtKB/Swiss-Prot genetic disease variations for Premature Ovarian Failure 7:

73
# Symbol AA change Variation ID SNP ID
1 NR5A1 p.Arg92Gln VAR_016982 rs104894119
2 NR5A1 p.Arg255Leu VAR_016983 rs104894118
3 NR5A1 p.Gly123Ala VAR_062967 rs200163795
4 NR5A1 p.Pro129Leu VAR_062968 rs200749741
5 NR5A1 p.Asp293Asn VAR_062970 rs121918655

Expression for Premature Ovarian Failure 7

Search GEO for disease gene expression data for Premature Ovarian Failure 7.

Pathways for Premature Ovarian Failure 7

GO Terms for Premature Ovarian Failure 7

Biological processes related to Premature Ovarian Failure 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 adrenal gland development GO:0030325 8.92 NR5A1 CRH

Molecular functions related to Premature Ovarian Failure 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.1 POMC GH1 CRH

Sources for Premature Ovarian Failure 7

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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