Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect TGex
News and Views Disease Lists/Categories
About
About MalaCards Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
POF7
MCID: PRM093
MIFTS: 44

Premature Ovarian Failure 7 (POF7)

Categories: Bone diseases, Endocrine diseases, Genetic diseases, Reproductive diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Premature Ovarian Failure 7

About this section

MalaCards integrated aliases for Premature Ovarian Failure 7:

Name: Premature Ovarian Failure 7 58 76 30 13 6 74
Adrenocortical Insufficiency 58 13 17
Adrenal Insufficiency, Nr5a1-Related 76 6
Pof7 58 76
Ovarian Failure, Premature, Type 7 41
Adrenal Cortical Hypofunction 74
Hypoaldosteronism 74
Ainr 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
familial cases may have affected 46,xy family members who exhibit sex reversal (see srxy3, )


HPO:

33
premature ovarian failure 7:
Inheritance sex-limited autosomal dominant


Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Reproductive diseases Endocrine diseases Bone diseases
See all MalaCards categories (disease lists)


Sources

Summaries for Premature Ovarian Failure 7

About this section
UniProtKB/Swiss-Prot : 76 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. 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.

MalaCards based summary : Premature Ovarian Failure 7, also known as adrenocortical insufficiency, is related to hypoadrenocorticism, familial and adrenoleukodystrophy. An important gene associated with Premature Ovarian Failure 7 is NR5A1 (Nuclear Receptor Subfamily 5 Group A Member 1). The drugs Hydrocortisone and Racepinephrine have been mentioned in the context of this disorder. Affiliated tissues include testes, pituitary and thyroid, and related phenotypes are primary amenorrhea and hypoplasia of the uterus

Description from OMIM: 612964
Sources

Related Diseases for Premature Ovarian Failure 7

About this section

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

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

(show top 50) (show all 71)
# Related Disease Score Top Affiliating Genes
1 hypoadrenocorticism, familial 11.8
2 adrenoleukodystrophy 11.5
3 acute adrenal insufficiency 11.3
4 lipoid congenital adrenal hyperplasia 11.2
5 bilateral massive adrenal hemorrhage 10.8
6 adrenal hypoplasia, congenital, with absent pituitary luteinizing hormone 10.4
7 corticosterone methyloxidase type i deficiency 10.4
8 hyperreninemic hypoaldosteronism, familial, 2 10.4
9 familial glucocorticoid deficiency 10.4
10 familial hypoaldosteronism 10.4
11 inherited isolated adrenal insufficiency due to partial cyp11a1 deficiency 10.4
12 cytomegalic congenital adrenal hypoplasia 10.4
13 achalasia 10.2
14 achalasia-addisonianism-alacrima syndrome 10.1
15 diabetes mellitus 10.1
16 myasthenia gravis 10.1
17 thyroiditis 10.1
18 myasthenia gravis congenital 10.1
19 hashimoto thyroiditis 10.0
20 graves disease 1 10.0
21 hyperprolactinemia 10.0
22 arthritis 10.0
23 hypoparathyroidism 10.0
24 conn's syndrome 10.0
25 hypothyroidism 10.0
26 hypoglycemia 10.0
27 adrenomyeloneuropathy 10.0
28 diaphragmatic hernia, congenital 9.8
29 osteoporosis 9.8
30 pernicious anemia 9.8
31 porphyria cutanea tarda 9.8
32 rheumatoid arthritis 9.8
33 chromosome xp21 deletion syndrome 9.8
34 wiskott-aldrich syndrome 9.8
35 glycerol kinase deficiency 9.8
36 thalassemia 9.8
37 thrombocytopenia 9.8
38 inflammatory bowel disease 9.8
39 lymphoma 9.8
40 sleeping sickness 9.8
41 bacterial infectious disease 9.8
42 steatorrhea 9.8
43 chronic pyelonephritis 9.8
44 pyelonephritis 9.8
45 nephrotic syndrome 9.8
46 keratoconjunctivitis sicca 9.8
47 dementia 9.8
48 porphyria 9.8
49 polyneuropathy 9.8
50 epilepsy 9.8

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
Sources

Symptoms & Phenotypes for Premature Ovarian Failure 7

About this section

Human phenotypes related to Premature Ovarian Failure 7:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 primary amenorrhea 33 occasional (7.5%) HP:0000786
2 hypoplasia of the uterus 33 occasional (7.5%) HP:0000013
3 absent pubic hair 33 occasional (7.5%) HP:0002555
4 clitoral hypertrophy 33 occasional (7.5%) HP:0008665
5 premature ovarian insufficiency 33 HP:0008209
6 secondary amenorrhea 33 HP:0000869
7 elevated circulating follicle stimulating hormone level 33 HP:0008232
8 elevated circulating luteinizing hormone level 33 HP:0011969

Symptoms via clinical synopsis from OMIM:

58
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 follicle-stimulating hormone (fsh)
elevated luteinizing hormone (lh)

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

Clinical features from OMIM:

612964
Sources

Drugs & Therapeutics for Premature Ovarian Failure 7

About this section

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

(show top 50) (show all 258)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydrocortisone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 50-23-7 5754
2
Racepinephrine Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1 329-65-7 838
3
Epinephrine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1 51-43-4 5816
4
Hydrocortisone acetate Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 50-03-3
5
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 1,Not Applicable 50-02-2 5743
6
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4,Phase 1,Not Applicable 1177-87-3
7
Prednisolone phosphate Approved, Vet_approved Phase 4,Phase 3,Phase 2 302-25-0
8
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2 50-24-8 5755
9
Methylprednisolone hemisuccinate Approved Phase 4,Phase 3,Phase 2 2921-57-5
10
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2 83-43-2 6741
11
Prednisone Approved, Vet_approved Phase 4,Phase 3,Phase 2 53-03-2 5865
12
Cosyntropin Approved Phase 4,Phase 3,Not Applicable,Early Phase 1 16960-16-0 16129617
13
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
14
Etomidate Approved Phase 4,Phase 2,Phase 3,Not Applicable 33125-97-2 667484 36339
15
Propofol Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable 2078-54-8 4943
16
Xylometazoline Approved, Investigational Phase 4 526-36-3 5709
17
Celecoxib Approved, Investigational Phase 4,Phase 2 169590-42-5 2662
18
Citalopram Approved Phase 4 59729-33-8 2771
19
Benzocaine Approved, Investigational Phase 4,Phase 3,Phase 2 1994-09-7, 94-09-7 2337
20
tannic acid Approved Phase 4,Phase 3,Phase 2 1401-55-4
21
Ketamine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable 6740-88-1 3821
22
Megestrol acetate Approved, Investigational, Vet_approved Phase 4,Not Applicable 595-33-5 11683
23
Fludrocortisone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 127-31-1 31378
24
Sulfamethazine Approved, Investigational, Vet_approved Phase 4 57-68-1 5327
25
Prednisolone hemisuccinate Experimental Phase 4,Phase 3,Phase 2 2920-86-7
26
Cortisone Experimental Phase 4,Not Applicable 53-06-5 222786
27 Hydrocortisone hemisuccinate Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
28 Anti-Inflammatory Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
29 glucocorticoids Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
30 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
31 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
32 Epinephryl borate Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
33 Hydrocortisone 17-butyrate 21-propionate Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
34 Hormones Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
35 Hydrocortisone-17-butyrate Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
36 Vasoconstrictor Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
37 Antineoplastic Agents, Hormonal Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
38 Adrenergic Agonists Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
39 Sympathomimetics Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
40 Adrenergic Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
41 Adrenergic alpha-Agonists Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
42 Adrenergic beta-Agonists Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
43 Bronchodilator Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
44 Gastrointestinal Agents Phase 4,Phase 3,Phase 1,Not Applicable
45 Neurotransmitter Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
46 Antiemetics Phase 4,Phase 3,Phase 1,Not Applicable
47 Autonomic Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
48 Anti-Asthmatic Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
49 Mydriatics Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
50 BB 1101 Phase 4,Phase 1,Not Applicable

Interventional clinical trials:

(show top 50) (show all 212)
# Name Status NCT ID Phase Drugs
1 Effect of Treatment With Stress-Doses Glucocorticoid in Patients With Acute Respiratory Distress Syndrome (ARDS) Unknown status NCT00773058 Phase 4 hydrocortisone;placebo
2 Modified-release Compared to Conventional Hydrocortisone on Diurnal Fatigue in Secondary Hypoadrenalism Unknown status NCT02282150 Phase 4 Hydrocortisone;Plenadren
3 The Effect of Branched-chain Amino Acid on the Improvement of Serum Albumin Level in Cirrhotic Patients With Ascites Unknown status NCT02755701 Phase 4 Branched-chain Amino Acid;Placebo
4 Test Predicting Adrenal Insufficiency in Volunteers Under Prednisone Treatment Completed NCT00975078 Phase 4 prednisone
5 Dual RElease Hydrocortisone Versus conventionAl Glucocorticoid replaceMent Therapy in Hypocortisolism (DREAM) Completed NCT02277587 Phase 4 Plenadren;Conventional glucocorticoid therapy
6 Hydrocortisone Replacement in Patients With Secondary Adrenal Insufficiency (SUPREME CORT) Completed NCT01546922 Phase 4 Hydrocortisone
7 Determination of Method-specific Normal Cortisol and Adrenal Hormone Responses to the Short Synacthen Test Completed NCT00851942 Phase 4 Synacthen (Tetracosactrin)
8 Evaluation of Efficacy and Hypothalamus-pituitary-adrenal Axis Suppression Due to Corticosteroids Intrabursal Injection Completed NCT01652495 Phase 4 methylprednisolone acetate;Triamcinolone Acetonide
9 Post Operative Hemodynamic Function After Anesthetic Induction With Etomidate for Cardiac Surgery With ECC Completed NCT00451776 Phase 4 etomidate;propofol
10 Effect of Etomidate on Hemodynamics and Adrenocortical Function After Cardiac Surgery Completed NCT00415701 Phase 4 Etomidate;Propofol;Hydrocortisone;NaCl 0.9%
11 The Effect of Moderate-Dose Steroid Therapy in Sepsis Completed NCT01275638 Phase 4 Prednisolone
12 Low-dose Hydrocortisone in Acutely Burned Patients Completed NCT00149123 Phase 4 hydrocortisone 200 mg/day
13 Short-term Prednisone to Treat STA Study(SPTSS) Completed NCT01837433 Phase 4 Prednisone 1 week;Prednisone 6 weeks
14 Omega-3 Fatty Acids in Bariatric Gastric Bypass Surgery: Effect on Liver Volume, Immune Response and Erythrocyte Function Completed NCT02206256 Phase 4 Omega-3 fatty acid capsules
15 Steroid Use in Pediatric Fluid and Vasoactive Infusion Dependent Shock - Pilot Study Completed NCT02044159 Phase 4 Hydrocortisone
16 Revival of Stem Cells in Addison's Study Completed NCT01371526 Phase 4 depot tetracosactide
17 Effectiveness of Escitalopram in Preventing or Reducing Depressive Symptoms in People Receiving Interleukin-2 Treatment Completed NCT00352885 Phase 4 Escitalopram;Placebo;IL-2
18 Taper Or Abrupt Steroid Stop: TOASSTtrial Recruiting NCT03153527 Phase 4 Prednisone
19 Comparison of Two Strategies of Glucocorticoid Withdrawal in Rheumatoid Arthritis Patients Recruiting NCT02997605 Phase 4 GlucoCorticoid
20 Etomidate Versus Ketamine for Emergency Endotracheal Intubation: a Prospective Randomized Clinical Trial Recruiting NCT02643381 Phase 4 Etomidate;Ketamine
21 Efficacy and Safety of Two Glucocorticoid Regimens in the Treatment of Sarcoidosis Recruiting NCT03265405 Phase 4 Low dose prednisolone;Medium dose prednisolone
22 Congenital Adrenal Hyperplasia Once Daily Hydrocortisone Treatment Recruiting NCT03760835 Phase 4 Conventional Glucocorticoids (immediate release hydrocortisone, cortisone acetate, prednisone, prednisolone, dexamethasone);Dual release hydrocortisone (plenadren)
23 Optimising Steroid Replacement in Patients With Adrenal Insufficiency Enrolling by invitation NCT03282487 Phase 4 Modified release hydrocortisone
24 A Study of Markers of Glucocorticoid Effects in Patients With Addisons Disease (DOSCORT) Not yet recruiting NCT03210545 Phase 4 Dexamethasone
25 iKanEat: A Randomized-controlled, Multi-center Trial of Megestrol for Chronic Oral Food Refusal in Children Not yet recruiting NCT03815019 Phase 4 Megestrol Acetate
26 Adrenal Insufficiency in Septic Shock Terminated NCT00842933 Phase 4 Corticosteroid;Corticosteroid
27 Neuropsychological Effects of Hydrocortisone in Patients With Partial Adrenal Insufficiency Terminated NCT01089075 Phase 4 Hydrocortisone;Placebo
28 Hemodynamic and Inflammatory Effects of Abrupt Versus Tapered Corticosteroid Discontinuation in Septic Shock Terminated NCT01150409 Phase 4 hydrocortisone;Normal Saline
29 Hydrocortisone Versus Hydrocortisone Plus Fludrocortisone for the Treatment of Adrenal Insufficiency in Severe Sepsis Withdrawn NCT00368381 Phase 4 Hydrocortisone
30 Comparison of Intramuscular and Intravenous ACTH Stimulation Test in Normal Volunteers Withdrawn NCT03752190 Phase 4 Cosyntropin
31 The Effect of Dexamethasone on Cortisol Levels in Patients Undergoing Thyroid Surgery Withdrawn NCT01045876 Phase 4 Dexamethasone
32 Septic Shock em Steroids Unknown status NCT01047670 Phase 2, Phase 3 Hydrocortisone
33 Treatment of Adrenal Insufficiency in Children Completed NCT02720952 Phase 3 Infacort®
34 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
35 Dehydroepiandrosterone Substitution in Adolescent and Young Women With Central Adrenal Insufficiency Completed NCT00575341 Phase 3 Dehydroepiandrosterone;placebo
36 Extension Study for Patients Entered Into Study Infacort 003 Completed NCT02733367 Phase 3 Infacort®
37 Treatment of Polytraumatisms With Corticoids Completed NCT00563303 Phase 2, Phase 3 hydrocortisone;NaCl
38 Phase III Randomized, Double-Blind, Placebo-Controlled Study of Dehydroepiandrosterone Replacement for Primary Adrenal Insufficiency Completed NCT00004313 Phase 3 dehydroepiandrosterone
39 Corticosteroid Therapy for Glucocorticoid Insufficiency Related to Traumatic Brain Injury Completed NCT01093261 Phase 3 Placebo;Hydrocortisone Fludrocortisone
40 PREMILOC Trial to Prevent Bronchopulmonary Dysplasia in Very Preterm Neonates Completed NCT00623740 Phase 3 hydrocortisone;placebo
41 Early Use of Hydrocortisone in Hypotensive Very Low Birth Weight Infants Completed NCT00358748 Phase 3 Hydrocortisone
42 Mepolizumab Steroid-Sparing Study in Subjects With Severe Refractory Asthma Completed NCT01691508 Phase 3 Mepolizumab;Placebo;OCS (prednisone/prednisolone)
43 Combination of Corticotherapy and Intensive Insulin Therapy for Septic Shock Completed NCT00320099 Phase 3 recombinant human insulin;hydrocortisone;fludrocortisone;Hydrocortisone
44 Ketamine / Propofol Admixture "Ketofol" at Induction in the Critically Ill Against Etomidate: KEEP PACE Trial Completed NCT02105415 Phase 2, Phase 3 Ketamine / Propofol Admixture;Etomidate
45 Corticosteroid Therapy of Septic Shock - Corticus Completed NCT00147004 Phase 3 hydrocortisone sodium succinate;Placebo
46 Glucocorticoid Treatment in Addison's Disease Completed NCT01063569 Phase 2, Phase 3 Solu-Cortef (hydrocortisone);Cortef (hydrocortisone)
47 MD1003-AMN MD1003 in Adrenomyeloneuropathy Completed NCT02961803 Phase 2, Phase 3 MD1003 100 mg capsule;Placebo
48 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
49 Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid Completed NCT00007020 Phase 3 Cholic Acids
50 Is Adrenal Insufficiency Under-diagnosed in Hospitalized Cirrhosis Patients? Recruiting NCT03368066 Phase 3 Cosyntropin

Search NIH Clinical Center for Premature Ovarian Failure 7

Sources

Genetic Tests for Premature Ovarian Failure 7

About this section

Genetic tests related to Premature Ovarian Failure 7:

# Genetic test Affiliating Genes
1 Premature Ovarian Failure 7 30 NR5A1
Sources

Anatomical Context for Premature Ovarian Failure 7

About this section

MalaCards organs/tissues related to Premature Ovarian Failure 7:

42
Testes, Pituitary, Thyroid, Brain, Kidney, Bone, Uterus
Sources

Publications for Premature Ovarian Failure 7

About this section

Articles related to Premature Ovarian Failure 7:

(show top 50) (show all 240)
# Title Authors Year
1
Limbal stem cell defficiency associated with primary adrenocortical insufficiency. ( 30828512 )
2019
2
Falsely elevated plasma ACTH levels measured by the Elecsys assay related to heterophilic antibody in a case of secondary adrenocortical insufficiency. ( 30944263 )
2019
3
ATP7B Mutation Detection and Pathogenicity Analysis: One Atypical Case of Wilson's Disease with Adrenocortical Insufficiency. ( 29181760 )
2018
4
Atypical Presentation of Adrenocortical Insufficiency with Anorexia and Jaundice. ( 29910458 )
2018
5
Impact of Adrenocortical Insufficiency on Biochemical Parameters in Haemodynamically Stable Cirrhotic Patients with Ascites. ( 28588180 )
2017
6
Impact of Adrenocortical Insufficiency on Clinical Parameters in Haemodynamically Stable Cirrhotic Patients with Ascites. ( 28919607 )
2017
7
A 46,XX Ovotesticular Disorder of Sex Development Likely Caused by a Steroidogenic Factor-1 (NR5A1) Variant. ( 27855412 )
2017
8
Complex Glycerol Kinase Deficiency and Adrenocortical Insufficiency in Two Neonates. ( 27087023 )
2016
9
The Diagnostic Approach to Central Adrenocortical Insufficiency (CAI) in Thalassemia. ( 27158439 )
2016
10
Primary Adrenocortical Insufficiency Case Series: Genetic Etiologies More Common than Expected. ( 26650942 )
2016
11
Naturally Occurring Adrenocortical Insufficiency--An Epidemiological Study Based on a Swedish-Insured Dog Population of 525,028 Dogs. ( 26683136 )
2016
12
Adrenocortical insufficiency and refractory hypotension in preterm infants. ( 27601464 )
2016
13
Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort. ( 26523528 )
2016
14
Prediction of adrenocortical insufficiency after pituitary adenoma surgery using postoperative basal cortisol levels. ( 25470518 )
2015
15
Autoimmune polyglandular syndrome type 2 manifested as Hashimoto's thyroiditis and adrenocortical insufficiency, in Turner syndrome woman, with onset following introduction of treatment with recombinant human growth hormone. ( 26071578 )
2015
16
Secondary adrenocortical insufficiency complicated by marked hypercalcemia and eosinophilia: a case report. ( 25787103 )
2015
17
Management of adrenocortical insufficiency with continuous subcutaneous hydrocortisone infusion: long-term experience in three patients. ( 26124953 )
2015
18
Letter to the Editor: Adrenocortical Insufficiency Following Glucocorticosteroid Treatment. ( 26247599 )
2015
19
Methylprednisolone Pulse Treatment of Graves' Ophthalmopathy Is Not Associated with Secondary Adrenocortical Insufficiency. ( 26835424 )
2015
20
Adrenocortical insufficiency is not a problem in preterm infants treated with antifungal prophylaxis with fluconazole. ( 24575768 )
2014
21
Oxidative stress and adrenocortical insufficiency. ( 24623797 )
2014
22
Ketoacidosis and adrenocortical insufficiency. ( 24673726 )
2014
23
Eruptive melanocytic naevi as a sign of primary adrenocortical insufficiency. ( 23692464 )
2013
24
CD4 count as a predictor of adrenocortical insufficiency in persons with human immunodeficiency virus infection: How useful? ( 24381877 )
2013
25
Chronic adrenocortical insufficiency. ( 22712153 )
2012
26
Black tongue due to adrenocortical insufficiency. ( 22887863 )
2012
27
Mutation of 3β-hydroxysteroid dehydrogenase (3β-HSD) at the 3'-untranslated region is associated with adrenocortical insufficiency. ( 23026940 )
2012
28
Adrenocortical insufficiency in horses and foals. ( 21392651 )
2011
29
Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1. ( 20887963 )
2010
30
The low-dose (1 microg) cosyntropin test (LDT) for primary adrenocortical insufficiency: Defining the normal cortisol response and report on first patients with Addison disease confirmed with LDT. ( 19358090 )
2010
31
M. Pura et al. (Lubochna and Prague) with the title : "the low dose (1 microg) cosyntropin test (LDT) for primary adrenocortical insufficiency: defining the normal cortisol response and report on first patients with Addison disease confirmed with LDT" (ECED 2010; 118: 151-157). ( 20533153 )
2010
32
An endocrinologist's view on relative adrenocortical insufficiency in rheumatoid arthritis. ( 20398019 )
2010
33
Musculoskeletal symptoms and neurological investigations in adrenocortical insufficiency: a case report and literature review. ( 21116065 )
2010
34
Cosyntropin as a diagnostic agent in the screening of patients for adrenocortical insufficiency. ( 22291489 )
2010
35
Release of melanotroph- and corticotroph-type proopiomelanocortin derivatives into blood after administration of corticotropin-releasing hormone in patients with septic shock without adrenocortical insufficiency. ( 18827746 )
2009
36
Mutations in NR5A1 associated with ovarian insufficiency. ( 19246354 )
2009
37
Primary adrenocortical insufficiency masquerading as Laugier-Hunziker syndrome. ( 18477154 )
2008
38
Increased death risk and altered cancer incidence pattern in patients with isolated or combined autoimmune primary adrenocortical insufficiency. ( 18727712 )
2008
39
Insidious adrenocortical insufficiency underlies neuroendocrine dysregulation in TIF-2 deficient mice. ( 17135362 )
2007
40
Adrenocortical insufficiency in Otsuka Long-Evans Tokushima Fatty rats, a type 2 diabetes mellitus model. ( 17884440 )
2007
41
Cushing's syndrome and adrenocortical insufficiency caused by topical steroids: misuse or abuse? ( 18183788 )
2007
42
The risk of affective disorders in patients with adrenocortical insufficiency. ( 16545526 )
2006
43
Adrenocortical insufficiency: an early step in the pathogenesis of severe acute pancreatitis and development of necrosis? Do we have a new treatment option? ( 16550087 )
2006
44
Familial occurrence of adrenocortical insufficiency in two brothers with Allgrove syndrome. A case report of 4A (Allgrove) syndrome with epilepsy and a new AAAS gene mutation. ( 16264411 )
2005
45
Chronic fentanyl application induces adrenocortical insufficiency. ( 15836666 )
2005
46
Adrenocortical insufficiency after pituitary surgery: an audit of the reliability of the conventional short synacthen test. ( 16268800 )
2005
47
Transient adrenocortical insufficiency of prematurity and systemic hypotension in very low birthweight infants. ( 14977894 )
2004
48
Transient adrenocortical insufficiency following traumatic bilateral adrenal hemorrhage. ( 15179259 )
2004
49
Allgrove syndrome--a syndrome of primary adrenocortical insufficiency with achalasia of the cardia and deficient tear production. ( 14621049 )
2003
50
Management of patients with adrenocortical insufficiency in the dental clinic. ( 12730655 )
2003
Sources

Variations for Premature Ovarian Failure 7

About this section

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

76
# 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

ClinVar genetic disease variations for Premature Ovarian Failure 7:

6 (show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 NR5A1 NM_004959.4(NR5A1): c.764G> T (p.Arg255Leu) single nucleotide variant Pathogenic rs104894118 GRCh37 Chromosome 9, 127262475: 127262475
2 NR5A1 NM_004959.4(NR5A1): c.764G> T (p.Arg255Leu) single nucleotide variant Pathogenic rs104894118 GRCh38 Chromosome 9, 124500196: 124500196
3 NR5A1 NM_004959.4(NR5A1): c.275G> A (p.Arg92Gln) single nucleotide variant Pathogenic rs104894119 GRCh37 Chromosome 9, 127262964: 127262964
4 NR5A1 NM_004959.4(NR5A1): c.275G> A (p.Arg92Gln) single nucleotide variant Pathogenic rs104894119 GRCh38 Chromosome 9, 124500685: 124500685
5 NR5A1 NM_004959.4(NR5A1): c.666delC (p.Asn222Lysfs) deletion Pathogenic rs606231206 GRCh38 Chromosome 9, 124500294: 124500294
6 NR5A1 NM_004959.4(NR5A1): c.666delC (p.Asn222Lysfs) deletion Pathogenic rs606231206 GRCh37 Chromosome 9, 127262573: 127262573
7 NR5A1 NM_004959.4(NR5A1): c.877G> A (p.Asp293Asn) single nucleotide variant Pathogenic rs121918655 GRCh37 Chromosome 9, 127255422: 127255422
8 NR5A1 NM_004959.4(NR5A1): c.877G> A (p.Asp293Asn) single nucleotide variant Pathogenic rs121918655 GRCh38 Chromosome 9, 124493143: 124493143
9 NR5A1 NM_004959.4(NR5A1): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs121918656 GRCh37 Chromosome 9, 127265672: 127265672
10 NR5A1 NM_004959.4(NR5A1): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs121918656 GRCh38 Chromosome 9, 124503393: 124503393
11 NR5A1 NM_004959.4(NR5A1): c.390delG (p.Pro131Argfs) deletion Pathogenic rs606231207 GRCh38 Chromosome 9, 124500570: 124500570
12 NR5A1 NM_004959.4(NR5A1): c.390delG (p.Pro131Argfs) deletion Pathogenic rs606231207 GRCh37 Chromosome 9, 127262849: 127262849
13 NR5A1 NM_004959.4(NR5A1): c.691_699delCTGCAGCTG (p.Leu231_Leu233del) deletion Pathogenic rs606231208 GRCh38 Chromosome 9, 124500261: 124500269
14 NR5A1 NM_004959.4(NR5A1): c.691_699delCTGCAGCTG (p.Leu231_Leu233del) deletion Pathogenic rs606231208 GRCh37 Chromosome 9, 127262540: 127262548
15 NR5A1 NM_004959.4(NR5A1): c.368G> C (p.Gly123Ala) single nucleotide variant no interpretation for the single variant rs200163795 GRCh37 Chromosome 9, 127262871: 127262871
16 NR5A1 NM_004959.4(NR5A1): c.368G> C (p.Gly123Ala) single nucleotide variant no interpretation for the single variant rs200163795 GRCh38 Chromosome 9, 124500592: 124500592
17 NR5A1 NM_004959.4(NR5A1): c.386C> T (p.Pro129Leu) single nucleotide variant no interpretation for the single variant rs200749741 GRCh37 Chromosome 9, 127262853: 127262853
18 NR5A1 NM_004959.4(NR5A1): c.386C> T (p.Pro129Leu) single nucleotide variant no interpretation for the single variant rs200749741 GRCh38 Chromosome 9, 124500574: 124500574
Sources

Expression for Premature Ovarian Failure 7

About this section
Search GEO for disease gene expression data for Premature Ovarian Failure 7.
Sources

Pathways for Premature Ovarian Failure 7

About this section
Sources

GO Terms for Premature Ovarian Failure 7

About this section
Sources

Sources for Premature Ovarian Failure 7

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Content
Loading form....