MCID: PRM093
MIFTS: 31

Premature Ovarian Failure 7

Categories: Genetic diseases, Endocrine diseases, Reproductive diseases

Aliases & Classifications for Premature Ovarian Failure 7

MalaCards integrated aliases for Premature Ovarian Failure 7:

Name: Premature Ovarian Failure 7 57 75 29 13 6 73
Adrenal Insufficiency, Nr5a1-Related 75 6
Pof7 57 75
Ovarian Failure, Premature, Type 7 40
Adrenal Cortical Hypofunction 73
Adrenocortical Insufficiency 57
Hypoaldosteronism 73
Ainr 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
premature ovarian failure 7:
Inheritance sex-limited autosomal dominant


Classifications:



External Ids:

OMIM 57 612964

Summaries for Premature Ovarian Failure 7

UniProtKB/Swiss-Prot : 75 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). Affiliated tissues include uterus and ovary, and related phenotypes are premature ovarian insufficiency and primary amenorrhea

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

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

(show top 50) (show all 70)
# Related Disease Score Top Affiliating Genes
1 hypoadrenocorticism, familial 11.6
2 adrenoleukodystrophy 11.3
3 acute adrenal insufficiency 11.1
4 lipoid congenital adrenal hyperplasia 11.0
5 adrenal hypoplasia, congenital, with absent pituitary luteinizing hormone 10.2
6 corticosterone methyloxidase type i deficiency 10.2
7 hyperreninemic hypoaldosteronism, familial, 2 10.2
8 familial glucocorticoid deficiency 10.2
9 familial hypoaldosteronism 10.2
10 bilateral massive adrenal hemorrhage 10.2
11 inherited isolated adrenal insufficiency due to partial cyp11a1 deficiency 10.2
12 cytomegalic congenital adrenal hypoplasia 10.2
13 achalasia 10.1
14 thyroiditis 10.0
15 achalasia-addisonianism-alacrima syndrome 10.0
16 diabetes mellitus 10.0
17 myasthenia gravis 9.9
18 hypothyroidism 9.9
19 myasthenia gravis congenital 9.9
20 hyperprolactinemia 9.8
21 arthritis 9.8
22 hypoparathyroidism 9.8
23 conn's syndrome 9.8
24 hypoglycemia 9.8
25 adrenomyeloneuropathy 9.8
26 diaphragmatic hernia, congenital 9.7
27 osteoporosis 9.7
28 pernicious anemia 9.7
29 porphyria cutanea tarda 9.7
30 rheumatoid arthritis 9.7
31 chromosome xp21 deletion syndrome 9.7
32 wiskott-aldrich syndrome 9.7
33 glycerol kinase deficiency 9.7
34 hepatitis 9.7
35 inflammatory bowel disease 9.7
36 lymphoma 9.7
37 sleeping sickness 9.7
38 steatorrhea 9.7
39 chronic pyelonephritis 9.7
40 pyelonephritis 9.7
41 nephrotic syndrome 9.7
42 esophagitis 9.7
43 keratoconjunctivitis sicca 9.7
44 dementia 9.7
45 porphyria 9.7
46 polyneuropathy 9.7
47 prostatitis 9.7
48 epilepsy 9.7
49 relapsing polychondritis 9.7
50 acute pancreatitis 9.7

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Premature Ovarian Failure 7:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 premature ovarian insufficiency 32 HP:0008209
2 primary amenorrhea 32 occasional (7.5%) HP:0000786
3 secondary amenorrhea 32 HP:0000869
4 hypoplasia of the uterus 32 occasional (7.5%) HP:0000013
5 clitoral hypertrophy 32 occasional (7.5%) HP:0008665
6 absent pubic hair 32 occasional (7.5%) HP:0002555
7 elevated circulating follicle stimulating hormone level 32 HP:0008232
8 elevated circulating luteinizing hormone level 32 HP:0011969

Drugs & Therapeutics for Premature Ovarian Failure 7

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 29 NR5A1

Anatomical Context for Premature Ovarian Failure 7

MalaCards organs/tissues related to Premature Ovarian Failure 7:

41
Uterus, Ovary

Publications for Premature Ovarian Failure 7

Articles related to Premature Ovarian Failure 7:

# Title Authors Year
1
Occurrence of allergic disease in patients with adrenal cortical hypofunction. ( 13807987 )
1960
2
Adrenal cortical hypofunction in some cases of chronic amoebiasis. ( 13620929 )
1958
3
Eight patients with adrenal cortical hypofunction surviving more than fifteen years. ( 13271108 )
1955
4
Adrenogenital virilism with adrenal cortical hypofunction; a clinical entity. ( 14361534 )
1955
5
Oral therapy of adrenal cortical hypofunction; use of combined fluorocortisone acetate and hydrocortisone. ( 13271094 )
1955
6
Arthritis following use of desoxycorticosterone acetate and cortisone; occurrence in patient with adrenal cortical hypofunction. ( 14353638 )
1955
7
Temporary adrenal cortical hypofunction in newborns. ( 12984012 )
1952

Variations for Premature Ovarian Failure 7

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

75
# 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 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 NR5A1 NM_004959.4(NR5A1): c.691_699delCTGCAGCTG (p.Leu231_Leu233del) deletion Pathogenic rs606231208 GRCh37 Chromosome 9, 127262540: 127262548
2 NR5A1 NM_004959.4(NR5A1): c.764G> T (p.Arg255Leu) single nucleotide variant Pathogenic rs104894118 GRCh37 Chromosome 9, 127262475: 127262475
3 NR5A1 NM_004959.4(NR5A1): c.764G> T (p.Arg255Leu) single nucleotide variant Pathogenic rs104894118 GRCh38 Chromosome 9, 124500196: 124500196
4 NR5A1 NM_004959.4(NR5A1): c.275G> A (p.Arg92Gln) single nucleotide variant Pathogenic rs104894119 GRCh37 Chromosome 9, 127262964: 127262964
5 NR5A1 NM_004959.4(NR5A1): c.275G> A (p.Arg92Gln) single nucleotide variant Pathogenic rs104894119 GRCh38 Chromosome 9, 124500685: 124500685
6 NR5A1 NM_004959.4(NR5A1): c.666delC (p.Asn222Lysfs) deletion Pathogenic rs606231206 GRCh38 Chromosome 9, 124500294: 124500294
7 NR5A1 NM_004959.4(NR5A1): c.666delC (p.Asn222Lysfs) deletion Pathogenic rs606231206 GRCh37 Chromosome 9, 127262573: 127262573
8 NR5A1 NM_004959.4(NR5A1): c.877G> A (p.Asp293Asn) single nucleotide variant Pathogenic rs121918655 GRCh37 Chromosome 9, 127255422: 127255422
9 NR5A1 NM_004959.4(NR5A1): c.877G> A (p.Asp293Asn) single nucleotide variant Pathogenic rs121918655 GRCh38 Chromosome 9, 124493143: 124493143
10 NR5A1 NM_004959.4(NR5A1): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs121918656 GRCh37 Chromosome 9, 127265672: 127265672
11 NR5A1 NM_004959.4(NR5A1): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs121918656 GRCh38 Chromosome 9, 124503393: 124503393
12 NR5A1 NM_004959.4(NR5A1): c.390delG (p.Pro131Argfs) deletion Pathogenic rs606231207 GRCh38 Chromosome 9, 124500570: 124500570
13 NR5A1 NM_004959.4(NR5A1): c.390delG (p.Pro131Argfs) deletion Pathogenic rs606231207 GRCh37 Chromosome 9, 127262849: 127262849
14 NR5A1 NM_004959.4(NR5A1): c.691_699delCTGCAGCTG (p.Leu231_Leu233del) deletion Pathogenic rs606231208 GRCh38 Chromosome 9, 124500261: 124500269

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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