Premature Ovarian Failure 7 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

POF7 MCID: PRM093 MIFTS: 59	Premature Ovarian Failure 7 (POF7) Categories: Bone diseases, Endocrine diseases, Genetic diseases, Rare diseases, Reproductive diseases	Data Licensing For inquiries, contact: [email protected]
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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Endocrine diseases Reproductive diseases Bone diseases

See all MalaCards categories (disease lists)

ICD11: ³³

Endocrine, nutritional or metabolic diseases

Endocrine diseases

Disorders of the adrenal glands or adrenal hormone system

Adrenocortical insufficiency

Adrenocortical insufficiency, unspecified

Other specified adrenocortical insufficiency

External Ids:

OMIM® ⁵⁷ 612964

OMIM Phenotypic Series ⁵⁷ PS311360

MeSH ⁴³ D000309 D016649

MedGen ⁴⁰ C2751825 CN244003

SNOMED-CT via HPO ⁶⁹ 205681004 35850006 373717006 more

EFO ¹⁶ EFO_0009491

ICD11 ³³ 733056203 733056203/other 733056203/unspecified

UMLS ⁷¹ C0020595 C0405580 C2751825

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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

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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:

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Symptoms & Phenotypes for Premature Ovarian Failure 7

Human phenotypes related to Premature Ovarian Failure 7:

³⁰ (show all 9)

#	Description	HPO 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

Sources

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

Triamcinolone

Approved, Vet_approved

Phase 4

124-94-7

31307

Benzocaine

Approved, Investigational

Phase 4

1994-09-7, 94-09-7

2337

Tannic acid

Approved

Phase 4

1401-55-4

16129878 16129778

Prednisolone phosphate

Approved, Vet_approved

Phase 4

302-25-0

Prednisolone acetate

Approved, Vet_approved

Phase 4

52-21-1

Prednisolone

Approved, Vet_approved

Phase 4

50-24-8

4894 5755

Prednisone

Approved, Vet_approved

Phase 4

53-03-2

5865

Methylprednisolone hemisuccinate

Approved

Phase 4

2921-57-5

1875

Methylprednisolone

Approved, Vet_approved

Phase 4

83-43-2

4159 6741

Cortisone

Experimental

Phase 4

53-06-5

222786

Prednisolone hemisuccinate

Experimental

Phase 4

2920-86-7

4897

Immunologic Factors

Phase 4

Triamcinolone hexacetonide

Phase 4

Triamcinolone diacetate

Phase 4

Triamcinolone Acetonide

Phase 4

6436

Immunosuppressive Agents

Phase 4

Tin Fluorides

Phase 4

Hydrocortisone-17-butyrate

Phase 4

Neuroprotective Agents

Phase 4

Vasoconstrictor Agents

Phase 4

Methylprednisolone Acetate

Phase 4

584547

Protective Agents

Phase 4

Prasterone

Approved, Investigational, Nutraceutical

Phase 3

53-43-0

5881

DHEA (Dehydroepiandrosterone)

Phase 3

Adjuvants, Immunologic

Phase 3

Progesterone

Approved, Vet_approved

Phase 2

57-83-0

5994

Mifepristone

Approved, Investigational

Phase 2

84371-65-3

55245

Follicle Stimulating Hormone

Phase 1, Phase 2

Insulin, Globin Zinc

Phase 2

Insulin

Phase 2

Contraceptives, Postcoital

Phase 2

Contraceptives, Oral

Phase 2

Contraceptive Agents

Phase 2

Mineralocorticoids

Phase 2

Estradiol

Approved, Investigational, Vet_approved

Phase 1

50-28-2

5757

Polyestradiol phosphate

Approved

Phase 1

28014-46-2

Estradiol 3-benzoate

Phase 1

Estradiol 17 beta-cypionate

Phase 1

Melanocyte-Stimulating Hormones

Phase 1

Adrenocorticotropic Hormone

Phase 1

beta-Endorphin

Phase 1

Mitotane

Approved

53-19-0

4211

Lidocaine

Approved, Vet_approved

137-58-6

3676

Etomidate

Approved

33125-97-2

667484

Fentanyl

Approved, Illicit, Investigational, Vet_approved

437-38-7

3345

Midazolam

Approved, Illicit

59467-70-8

4192

Succinylcholine

Approved

306-40-1, 71-27-2

5314

Metyrapone

Approved, Investigational

54-36-4

4174

Megestrol acetate

Approved, Investigational, Vet_approved

595-33-5

11683

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

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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

Sources

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

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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	Guran T...Achermann JC	26523528	2016
2	Mutations in NR5A1 associated with ovarian insufficiency. ⁶² ⁵⁷ ⁵	Lourenco D...Bashamboo A	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	Biason-Lauber A...Schoenle EJ	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	Achermann JC...Jameson JL	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	Marinakis NM...Traeger-Synodinos J	34008892	2021
6	A 46,XX Ovotesticular Disorder of Sex Development Likely Caused by a Steroidogenic Factor-1 (NR5A1) Variant. ⁵	Swartz JM...Hirschhorn JN	27855412	2017
7	Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals. ⁵⁷	Domenice S...Mendonca BB	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	Harrison SM...Baker LA	23918653	2013
9	Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1. ⁵	Bashamboo A...McElreavey K	20887963	2010
10	Pro-opiomelanocortin modulates the thermogenic and physical activity responses to high-fat feeding and markedly influences dietary fat preference. ⁵³ ⁶²	Tung YC...Coll AP	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	Giordano R...Arvat E	16914596	2006
12	Heterozygosity for a POMC-null mutation and increased obesity risk in humans. ⁵³ ⁶²	Farooqi IS...O'Rahilly S	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	Baz-Hecht M...Stern N	16556157	2006
14	Acromegaly as an endocrine form of myopathy: case report and review of literature. ⁵³ ⁶²	McNab TL...Khandwala HM	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	Challis BG...O'Rahilly S	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	Nye EJ...Jackson RV	10523009	1999
17	CRH and lysine-vasopressin stimulation tests in the diagnosis of hypoadrenalism secondary to hypothalamic or pituitary disorders. ⁵³ ⁶²	Cantalamessa L...Peracchi G	2169450	1990
18	Chronotherapy based on modified-release hydrocortisone to restore the physiological cortisol diurnal rhythm. ⁶²	Whitaker MJ...Ross RJ	35618893	2023
19	Laboratory Diagnosis of Thyroid and Adrenal Disease. ⁶²	Lathan P	36270846	2023
20	Longitudinal assessment of adrenocortical steroid and steroid precursor response to illness in hospitalized foals. ⁶²	Dembek K...Toribio R	36162341	2023
21	Levoketoconazole in the treatment of patients with endogenous Cushing's syndrome: a double-blind, placebo-controlled, randomized withdrawal study (LOGICS). ⁶²	Pivonello R...Fleseriu M	36085339	2022
22	High prevalence of overweight/obesity and dyslipidemia in patients with intracranial germ cell tumors. ⁶²	Wang S...Zhu H	36088446	2022
23	Treatment of Cushing's syndrome with osilodrostat: practical applications of recent studies with case examples. ⁶²	Fleseriu M...Biller BMK	36002784	2022
24	Levoketoconazole treatment in endogenous Cushing's syndrome: extended evaluation of clinical, biochemical, and radiologic outcomes. ⁶²	Fleseriu M...Heaney AP	36251618	2022
25	Posterior hypothalamic involvement on pre-operative MRI predicts hypothalamic obesity in craniopharyngiomas. ⁶²	Rachmasari KN...Dobri GA	36462067	2022
26	How I Approach It: Adrenal Insufficiency in Cirrhosis. ⁶²	Wentworth BJ...Siragy HM	35980083	2022
27	Quality of Life in Patients with Adrenal Insufficiency. ⁶²	Li D	36244690	2022
28	Fluconazole-Induced adrenal insufficiency following allogeneic hematopoietic cell transplant. ⁶²	Freyer CW...Loren AW	35289200	2022
29	Efficacy and safety of osilodrostat in paraneoplastic Cushing's syndrome: a real-world multicenter study in France. ⁶²	Dormoy A...Young J	36470583	2022
30	Screening patients with autoimmune endocrine disorders for cytokine autoantibodies reveals monogenic immune deficiencies. ⁶²	Sjogren T...Wolff ASB	36191466	2022
31	The first report of a known 4A syndrome patient with suspected manifestations of COVID-19, what was the final outcome? ⁶²	Azmoodeh E...Nazemi S	36440457	2022
32	Giant prolactinoma in children and adolescents: a single-center experience and systematic review. ⁶²	Kumar S...Bandgar T	35851929	2022
33	Prevalence and characteristics of factitious hypoglycaemia in non-diabetic patients in a department of endocrinology. ⁶²	Oueslati I...Chihaoui M	36117266	2022
34	The transition from paediatric to adult care in individuals with Prader-Willi syndrome. ⁶²	Poitou C...Tauber M	36347048	2022
35	Recurrent Cushing Syndrome From Metastatic Adrenocortical Carcinoma With Fumarate Hydratase Allelic Variant. ⁶²	Silverman E...Kotwal A	36447829	2022
36	Side-chain cleavage enzyme deficiency: Systematic review and case series. ⁶²	Phadte A...Bandgar T	36357326	2022
37	Mineralocorticoids induce polyuria by reducing apical aquaporin-2 expression of the kidney in partial vasopressin deficiency. ⁶²	Kurimoto J...Arima H	36450452	2022
38	Addison's disease without hyperpigmentation in pediatrics: pointing towards specific causes. ⁶²	Giannakopoulos A...Chrysis D	36348260	2022
39	A Single-Center, Observational Study of 607 Children and Young People Presenting With Differences of Sex Development (DSD). ⁶²	Man E...Achermann JC	36419940	2022
40	Assessment of adrenal function in pediatric cancer survivors. ⁶²	Hull B...B Starzyk J	35942830	2022
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	Nakamura T...Ohe Y	36195556	2022
42	Heterogeneous natural history of Addison's disease: mineralocorticoid deficiency may predominate. ⁶²	Howarth S...Pearce SH	36398876	2022
43	[Hyperpigmentation reveals Addison's disease in a pregnant woman]. ⁶²	Danielsen E...Worm D	36458598	2022
44	Combined Central Hypothyroidism and Adrenal Insufficiency Associated with Retinoic Acid Therapy for Cutaneous T-Cell Lymphoma. ⁶²	Marino A...Fantus IG	36447824	2022
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Sources

Genes for Premature Ovarian Failure 7

Genes related to Premature Ovarian Failure 7 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	NR5A1	Nuclear Receptor Subfamily 5 Group A Member 1	Protein Coding	1332.87	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ GeneCards inferred via : Disorders (show sections)	11038323 11932325 19246354 (more) 20887963 26523528 27855412 34008892
2	POMC	Proopiomelanocortin	Protein Coding	8.77	Novoseek inferred ⁵³	16936203 12165561 10523009 (more) 16914596 17717049 16556157
3	GH1	Growth Hormone 1	Protein Coding	6.3	Novoseek inferred ⁵³	16033731
4	CRH	Corticotropin Releasing Hormone	Protein Coding	5.61	Novoseek inferred ⁵³	2169450

Sources

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

Sources

Expression for Premature Ovarian Failure 7

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

Sources

Pathways for Premature Ovarian Failure 7

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

#	Super pathways	Score	Top Affiliating Genes
1	G-Beta Gamma Signaling ⁶⁴ Show member pathways CRHR Pathway ⁶⁴ GHRH Signaling ⁶⁴	11.92	POMC GH1 CRH
2	Peptide hormone metabolism ⁶⁶ Show member pathways Glycoprotein hormones ⁶⁶ Metabolism of Angiotensinogen to Angiotensins ⁶⁶ Metabolism of Angiotensinogen to Angiotensins ⁷⁴ Peptide hormone biosynthesis ⁶⁶ Synthesis, secretion, and deacylation of Ghrelin ⁶⁶ thyroid hormone biosynthesis ⁶¹	11.6	POMC GH1
3	G alpha (s) signalling events ⁶⁶ Show member pathways Defective ACTH causes obesity and POMCD ⁶⁶	11.53	POMC CRH
4	Corticotropin-releasing hormone signaling pathway ⁷⁴	11.22	POMC CRH
5	Serotonin and anxiety ⁷⁴ Show member pathways Serotonin and anxiety-related events ⁷⁴	10.42	POMC CRH
6	Glucocorticoid Pathway (HPA Axis), Pharmacodynamics ⁶⁰	9.47	POMC CRH