POF7
MCID: PRM093
MIFTS: 39

Premature Ovarian Failure 7 (POF7)

Categories: Bone diseases, Endocrine diseases, Genetic diseases, Reproductive diseases

Aliases & Classifications for Premature Ovarian Failure 7

MalaCards integrated aliases for Premature Ovarian Failure 7:

Name: Premature Ovarian Failure 7 58 76 30 13 6 74
Adrenal Insufficiency, Nr5a1-Related 76 6
Adrenocortical Insufficiency 58 17
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:



Summaries for Premature Ovarian Failure 7

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 adrenal insufficiency, nr5a1-related, 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 Estradiol and Polyestradiol phosphate have been mentioned in the context of this disorder. Affiliated tissues include testes, uterus and pituitary, and related phenotypes are primary amenorrhea and hypoplasia of the uterus

Description from OMIM: 612964

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

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

(show top 50) (show all 67)
# 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 adrenal hypoplasia, congenital, with absent pituitary luteinizing hormone 10.3
6 corticosterone methyloxidase type i deficiency 10.3
7 hyperreninemic hypoaldosteronism, familial, 2 10.3
8 familial glucocorticoid deficiency 10.3
9 familial hypoaldosteronism 10.3
10 bilateral massive adrenal hemorrhage 10.3
11 inherited isolated adrenal insufficiency due to partial cyp11a1 deficiency 10.3
12 cytomegalic congenital adrenal hypoplasia 10.3
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 hyperprolactinemia 10.0
20 arthritis 10.0
21 hypoparathyroidism 10.0
22 conn's syndrome 10.0
23 hypothyroidism 10.0
24 hypoglycemia 10.0
25 adrenomyeloneuropathy 10.0
26 diaphragmatic hernia, congenital 9.8
27 osteoporosis 9.8
28 pernicious anemia 9.8
29 porphyria cutanea tarda 9.8
30 rheumatoid arthritis 9.8
31 chromosome xp21 deletion syndrome 9.8
32 wiskott-aldrich syndrome 9.8
33 glycerol kinase deficiency 9.8
34 thalassemia 9.8
35 thrombocytopenia 9.8
36 inflammatory bowel disease 9.8
37 lymphoma 9.8
38 sleeping sickness 9.8
39 steatorrhea 9.8
40 chronic pyelonephritis 9.8
41 pyelonephritis 9.8
42 nephrotic syndrome 9.8
43 keratoconjunctivitis sicca 9.8
44 dementia 9.8
45 porphyria 9.8
46 polyneuropathy 9.8
47 epilepsy 9.8
48 relapsing polychondritis 9.8
49 acute pancreatitis 9.8
50 pulmonary tuberculosis 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

Symptoms & Phenotypes for Premature Ovarian Failure 7

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 clitoral hypertrophy 33 occasional (7.5%) HP:0008665
4 absent pubic hair 33 occasional (7.5%) HP:0002555
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

Drugs & Therapeutics for Premature Ovarian Failure 7

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

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Estradiol Approved, Investigational, Vet_approved Phase 1 50-28-2 5757
2
Polyestradiol phosphate Approved Phase 1 28014-46-2
3
Calcium Approved, Nutraceutical Phase 1 7440-70-2 271
4 Estradiol 17 beta-cypionate Phase 1
5 Estradiol 3-benzoate Phase 1
6 Calcium, Dietary Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Inovium Ovarian Rejuvenation Trials Completed NCT03178695 Phase 1

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 30 NR5A1

Anatomical Context for Premature Ovarian Failure 7

MalaCards organs/tissues related to Premature Ovarian Failure 7:

42
Testes, Uterus, Pituitary, Breast, Ovary, Thyroid, Adrenal Gland

Publications for Premature Ovarian Failure 7

Articles related to Premature Ovarian Failure 7:

(show top 50) (show all 221)
# Title Authors Year
1
ATP7B Mutation Detection and Pathogenicity Analysis: One Atypical Case of Wilson's Disease with Adrenocortical Insufficiency. ( 29181760 )
2018
2
Complex glycerol kinase deficiency and adrenocortical insufficiency in the neonate. ( 27087023 )
2016
3
The Diagnostic Approach to Central Adrenocortical Insufficiency (CAI) in Thalassemia. ( 27158439 )
2016
4
Secondary adrenocortical insufficiency complicated by marked hypercalcemia and eosinophilia: a case report. ( 25787103 )
2015
5
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
6
Ketoacidosis and adrenocortical insufficiency. ( 24673726 )
2014
7
Prediction of adrenocortical insufficiency after pituitary adenoma surgery using postoperative basal cortisol levels. ( 25470518 )
2014
8
Adrenocortical insufficiency is not a problem in preterm infants treated with antifungal prophylaxis with fluconazole. ( 24575768 )
2014
9
Oxidative stress and adrenocortical insufficiency. ( 24623797 )
2014
10
Eruptive melanocytic naevi as a sign of primary adrenocortical insufficiency. ( 23692464 )
2013
11
CD4 count as a predictor of adrenocortical insufficiency in persons with human immunodeficiency virus infection: How useful? ( 24381877 )
2013
12
Mutation of 3I^-hydroxysteroid dehydrogenase (3I^-HSD) at the 3'-untranslated region is associated with adrenocortical insufficiency. ( 23026940 )
2012
13
Chronic adrenocortical insufficiency. ( 22712153 )
2012
14
Black tongue due to adrenocortical insufficiency. ( 22887863 )
2012
15
Adrenocortical insufficiency in horses and foals. ( 21392651 )
2011
16
Cosyntropin as a diagnostic agent in the screening of patients for adrenocortical insufficiency. ( 22291489 )
2010
17
Musculoskeletal symptoms and neurological investigations in adrenocortical insufficiency: a case report and literature review. ( 21116065 )
2010
18
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
19
An endocrinologist's view on relative adrenocortical insufficiency in rheumatoid arthritis. ( 20398019 )
2010
20
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
21
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
22
Primary adrenocortical insufficiency masquerading as Laugier-Hunziker syndrome. ( 18477154 )
2008
23
Increased death risk and altered cancer incidence pattern in patients with isolated or combined autoimmune primary adrenocortical insufficiency. ( 18727712 )
2008
24
Adrenocortical insufficiency in Otsuka Long-Evans Tokushima Fatty rats, a type 2 diabetes mellitus model. ( 17884440 )
2007
25
Insidious adrenocortical insufficiency underlies neuroendocrine dysregulation in TIF-2 deficient mice. ( 17135362 )
2007
26
Cushing's syndrome and adrenocortical insufficiency caused by topical steroids: misuse or abuse? ( 18183788 )
2007
27
The risk of affective disorders in patients with adrenocortical insufficiency. ( 16545526 )
2006
28
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
29
Chronic fentanyl application induces adrenocortical insufficiency. ( 15836666 )
2005
30
Adrenocortical insufficiency after pituitary surgery: an audit of the reliability of the conventional short synacthen test. ( 16268800 )
2005
31
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
32
Transient adrenocortical insufficiency following traumatic bilateral adrenal hemorrhage. ( 15179259 )
2004
33
Transient adrenocortical insufficiency of prematurity and systemic hypotension in very low birthweight infants. ( 14977894 )
2004
34
[Irreversible coma following hypoglycemia in Sheehan syndrome with adrenocortical insufficiency]. ( 12966633 )
2003
35
Allgrove syndrome--a syndrome of primary adrenocortical insufficiency with achalasia of the cardia and deficient tear production. ( 14621049 )
2003
36
High prevalence of fatigue in quiescent inflammatory bowel disease is not related to adrenocortical insufficiency. ( 12809832 )
2003
37
Management of patients with adrenocortical insufficiency in the dental clinic. ( 12730655 )
2003
38
Flexion contractures of the legs as the initial manifestation of adrenocortical insufficiency. ( 12924497 )
2003
39
Evaluation of low dose ACTH stimulation test in suspected secondary adrenocortical insufficiency. ( 12571383 )
2002
40
[From gene to disease; adrenocortical insufficiency, achalasia and disrupted tear secretion: Allgrove syndrome]. ( 12497758 )
2002
41
Use of the low-dose corticotropin stimulation test for the diagnosis of secondary adrenocortical insufficiency. ( 12459599 )
2002
42
Topical corticosteroid-induced adrenocortical insufficiency: clinical implications. ( 11978135 )
2002
43
Research of the Holiday kind. Case report: microcardia secondary to chronic adrenocortical insufficiency. ( 11841005 )
2001
44
Refractory hypotension in preterm infants with adrenocortical insufficiency. ( 11207229 )
2001
45
[Relative adrenocortical insufficiency with sepsis, diagnosed and treated with hydrocortisone supplementation]. ( 11572177 )
2001
46
Acute adrenocortical insufficiency due to heparin-induced thrombocytopenia with subsequent bilateral haemorrhagic infarction of the adrenal glands. ( 11771214 )
2001
47
A case of non-HFE juvenile haemochromatosis presenting with adrenocortical insufficiency. ( 10896410 )
2000
48
Successful treatment of high turnover osteoporosis in a patient with adrenocortical insufficiency. ( 10849958 )
2000
49
A case of chronic adrenocortical insufficiency with iatrogenic anasarca. ( 11010057 )
2000
50
Adrenocortical insufficiency in infants with congenital diaphragmatic hernia: a pilot study. ( 10693669 )
2000

Variations for Premature Ovarian Failure 7

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

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

Sources for Premature Ovarian Failure 7

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
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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
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