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

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Aliases & Classifications for Premature Ovarian Failure 16

MalaCards integrated aliases for Premature Ovarian Failure 16:

Name: Premature Ovarian Failure 16 ⁵⁷ ⁷² ⁶

Pof16 ⁵⁷ ⁷²

Characteristics:

OMIM®:

⁵⁷ (Updated 20-May-2021)

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® ⁵⁷ 618723

OMIM Phenotypic Series ⁵⁷ PS311360

MeSH ⁴⁴ D016649

MedGen ⁴¹ C5231474 CN263090

SNOMED-CT via HPO ⁶⁸ 166449002 263681008 373717006

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Summaries for Premature Ovarian Failure 16

OMIM® : ⁵⁷ 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) (Updated 20-May-2021)

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). Related phenotypes are reduced antral follicle count and premature ovarian insufficiency

UniProtKB/Swiss-Prot : ⁷² 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.

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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	Premature Ovarian Failure 17
Premature Ovarian Failure 18	Premature Ovarian Failure 19
Acquired Premature Ovarian Failure

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Symptoms & Phenotypes for Premature Ovarian Failure 16

Human phenotypes related to Premature Ovarian Failure 16:

³¹

#	Description	HPO Frequency	HPO Source Accession
1	reduced antral follicle count ³¹	very rare (1%)	HP:0033085
2	premature ovarian insufficiency ³¹		HP:0008209
3	decreased serum estradiol ³¹		HP:0008214
4	elevated circulating follicle stimulating hormone level ³¹		HP:0008232

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 20-May-2021)

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 (Updated 20-May-2021)

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Drugs & Therapeutics for Premature Ovarian Failure 16

Search Clinical Trials , NIH Clinical Center for Premature Ovarian Failure 16

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Genetic Tests for Premature Ovarian Failure 16

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Anatomical Context for Premature Ovarian Failure 16

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Publications for Premature Ovarian Failure 16

Articles related to Premature Ovarian Failure 16:

#	Title	Authors	PMID	Year
1	Basonuclin 1 deficiency is a cause of primary ovarian insufficiency. ⁵⁷	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

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Genes for Premature Ovarian Failure 16

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

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	BNC1	Basonuclin 1	Protein Coding	967.03	Molecular basis known ⁵⁷ Pathogenic ⁶ Unconfirmed association ⁵⁷ GeneCards inferred via : Disorders Variants (show sections)	10909

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Variations for Premature Ovarian Failure 16

ClinVar genetic disease variations for Premature Ovarian Failure 16:

⁶

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	BNC1	NM_001717.4(BNC1):c.1065_1069del (p.Arg356fs)	Deletion	Pathogenic	800707	rs1596591051	GRCh37: 15:83932934-83932938 GRCh38: 15:83264182-83264186
2	BNC1	NM_001717.4(BNC1):c.2917C>T (p.Arg973Ter)	SNV	Uncertain significance	1030363		GRCh37: 15:83926262-83926262 GRCh38: 15:83257510-83257510

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Expression for Premature Ovarian Failure 16

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

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Pathways for Premature Ovarian Failure 16

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GO Terms for Premature Ovarian Failure 16

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Sources for Premature Ovarian Failure 16

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⁵⁷ OMIM® (Updated 20-May-2021)

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⁷³ 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

Genetic Tests for Premature Ovarian Failure 16

Anatomical Context for 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