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

Sources

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:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 612964

MedGen ⁴² C2751825 CN244003

MeSH ⁴⁴ D000309 D016649

SNOMED-CT via HPO ⁶⁹ 35850006 8913004 86030004 more

UMLS ⁷³ C2751825 C0020595

Sources

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

Sources

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
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:

Sources

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

Sources

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

Sources

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

Sources

Anatomical Context for Premature Ovarian Failure 7

MalaCards organs/tissues related to Premature Ovarian Failure 7:

⁴¹

Uterus, Ovary

Sources

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 )	CARRYER H.M....Gastineau C.F.	1960
2	Adrenal cortical hypofunction in some cases of chronic amoebiasis. ( 13620929 )	KASLIWAL R.M....Mathur M.S.	1958
3	Eight patients with adrenal cortical hypofunction surviving more than fifteen years. ( 13271108 )	ROWNTREE L.G.	1955
4	Adrenogenital virilism with adrenal cortical hypofunction; a clinical entity. ( 14361534 )	KEELER J.E....NICOLAY K.S.	1955
5	Oral therapy of adrenal cortical hypofunction; use of combined fluorocortisone acetate and hydrocortisone. ( 13271094 )	KUPPERMAN H.S....Epstein J.A.	1955
6	Arthritis following use of desoxycorticosterone acetate and cortisone; occurrence in patient with adrenal cortical hypofunction. ( 14353638 )	HURSH L.M.	1955
7	Temporary adrenal cortical hypofunction in newborns. ( 12984012 )	CONNELL J.R.	1952

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	PubmedIds
1	NR5A1	Nuclear Receptor Subfamily 5 Group A Member 1	Protein Coding	1328.75	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	19246354 20887963

Sources

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

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

Sources

GO Terms for Premature Ovarian Failure 7

Sources

Sources for Premature Ovarian Failure 7

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia