Premature Ovarian Failure 16 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

Aliases & Classifications for Premature Ovarian Failure 16

MalaCards integrated aliases for Premature Ovarian Failure 16:

Name: Premature Ovarian Failure 16 ⁵⁶ ⁷³ ⁶

Pof16 ⁵⁶ ⁷³

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal dominant

Miscellaneous:
premature ovarian failure diagnosed in 4th decade of life
based on report of 1 family (last curated december 2019)

HPO:

³¹

premature ovarian failure 16:
Inheritance autosomal dominant inheritance

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 618723

OMIM Phenotypic Series ⁵⁶ PS311360

MeSH ⁴³ D016649

MedGen ⁴¹ CN263090

SNOMED-CT via HPO ⁶⁸ 166449002 263681008 373717006

Sources

Summaries for Premature Ovarian Failure 16

OMIM : ⁵⁶ Premature ovarian failure-16 (POF16) is characterized by onset of amenorrhea early in the fourth decade of life, accompanied by elevated follicle-stimulating hormone (FSH; see 136530) levels and low estradiol levels. Ovaries are smaller than normal and show a solid echo pattern with no antral follicle (Zhang et al., 2018). (618723)

MalaCards based summary : Premature Ovarian Failure 16, is also known as pof16. An important gene associated with Premature Ovarian Failure 16 is BNC1 (Basonuclin 1). The drugs Ganirelix and Hormone Antagonists have been mentioned in the context of this disorder. Affiliated tissues include ovary, and related phenotypes are premature ovarian insufficiency and decreased serum estradiol

UniProtKB/Swiss-Prot : ⁷³ Premature ovarian failure 16: An autosomal dominant form of premature ovarian failure, 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.

Sources

Related Diseases for Premature Ovarian Failure 16

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	Acquired Premature Ovarian Failure

Sources

Symptoms & Phenotypes for Premature Ovarian Failure 16

Human phenotypes related to Premature Ovarian Failure 16:

³¹ (showing 3, show less)

#	Description	HPO Source Accession
1	premature ovarian insufficiency ³¹	HP:0008209
2	decreased serum estradiol ³¹	HP:0008214
3	elevated circulating follicle stimulating hormone level ³¹	HP:0008232

Symptoms via clinical synopsis from OMIM:

⁵⁶

Genitourinary Internal Genitalia Female:
premature ovarian failure
small ovaries
solid echo pattern seen on transvaginal ultrasonography
no antral follicle

Endocrine Features:
low estradiol levels
elevated follicle-stimulating hormone levels

Clinical features from OMIM:

618723

Sources

Drugs & Therapeutics for Premature Ovarian Failure 16

Drugs for Premature Ovarian Failure 16 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 6, show less)

#

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Ganirelix

Approved

123246-29-7, 124904-93-4

25081094

Synonyms:

123246-29-7

124904-93-4

CHEBI:336376

CHEMBL1251

D08010

Ganirelix

Ganirelix (INN)

Ganirelix [INN:BAN]

Ganirelix acetate

Ganirelixum

Ganirelixum [INN-Latin]

LS-181948

LS-187280

Orgalutran

Orgalutran (TN)

RS-26306

UNII-IX503L9WN0

2

Hormone Antagonists

3

Contraceptive Agents

4

Antineoplastic Agents, Hormonal

5

Hormones

6

Triptorelin Pamoate

Interventional clinical trials:

(showing 1, show less)

#	Name	Status	NCT ID	Phase	Drugs
1	Administration of GnRH Antagonist to Oocyte Donation Recipients During Endometrial Preparation.	Completed	NCT00635258		triptorelin (Decapeptyl®, Ipsen Pharma, Barcelona, Spain);GnRH antagonist (Orgalutran®)

Search NIH Clinical Center for Premature Ovarian Failure 16

Sources

Genetic Tests for Premature Ovarian Failure 16

Sources

Anatomical Context for Premature Ovarian Failure 16

MalaCards organs/tissues related to Premature Ovarian Failure 16:

⁴⁰

Ovary

Sources

Publications for Premature Ovarian Failure 16

Articles related to Premature Ovarian Failure 16:

(showing 2, show less)

#	Title	Authors	PMID	Year
1	Basonuclin 1 deficiency is a cause of primary ovarian insufficiency. ⁵⁶	Zhang D...Huang H	30010909	2018
2	31P NMR of diisopropyl phosphoryl alpha-chymotrypsin and catechol cyclic phosphate alpha-chymotrypsin. Direct observation of two conformational isomers. ⁶	Gorenstein DG...Findlay JB	10909	1976

Sources

Genes for Premature Ovarian Failure 16

Genes related to Premature Ovarian Failure 16 (1 elite genes):

(showing 1, show less)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	BNC1	Basonuclin 1	Protein Coding	967.34	Molecular basis known ⁵⁶ Pathogenic ⁶ Unconfirmed association ⁵⁶ GeneCards inferred via : Disorders Variants (show sections)	10909

Sources

Variations for Premature Ovarian Failure 16

ClinVar genetic disease variations for Premature Ovarian Failure 16:

⁶ (showing 1, show less) ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	BNC1	NM_001717.4(BNC1):c.1065_1069del (p.Arg356fs)	deletion	Pathogenic	800707		15:83932934-83932938	15:83264182-83264186

Sources

Expression for Premature Ovarian Failure 16

Search GEO for disease gene expression data for Premature Ovarian Failure 16.

Sources

Pathways for Premature Ovarian Failure 16

Sources

GO Terms for Premature Ovarian Failure 16

Sources

Sources for Premature Ovarian Failure 16

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 EFO

¹⁸ ExPASy

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 HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Premature Ovarian Failure 16 (POF16)

Aliases & Classifications for Premature Ovarian Failure 16

MalaCards integrated aliases for Premature Ovarian Failure 16:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Premature Ovarian Failure 16

Related Diseases for Premature Ovarian Failure 16

Diseases in the Premature Ovarian Failure 2a family:

Symptoms & Phenotypes for Premature Ovarian Failure 16

Human phenotypes related to Premature Ovarian Failure 16:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Premature Ovarian Failure 16

Drugs for Premature Ovarian Failure 16 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

Interventional clinical trials:

Genetic Tests for Premature Ovarian Failure 16

Anatomical Context for Premature Ovarian Failure 16

MalaCards organs/tissues related to Premature Ovarian Failure 16:

Publications for Premature Ovarian Failure 16

Articles related to Premature Ovarian Failure 16:

Genes for Premature Ovarian Failure 16

Genes related to Premature Ovarian Failure 16 (1 elite genes):

Variations for Premature Ovarian Failure 16

ClinVar genetic disease variations for Premature Ovarian Failure 16:

Expression for Premature Ovarian Failure 16

Pathways for Premature Ovarian Failure 16

GO Terms for Premature Ovarian Failure 16

Sources for Premature Ovarian Failure 16