POF16
MCID: PRM344
MIFTS: 17

Premature Ovarian Failure 16 (POF16)

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

Aliases & Classifications for Premature Ovarian Failure 16

MalaCards integrated aliases for Premature Ovarian Failure 16:

Name: Premature Ovarian Failure 16 57 73 6
Pof16 57 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-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:



External Ids:

OMIM® 57 618723
OMIM Phenotypic Series 57 PS311360
MeSH 44 D016649
SNOMED-CT via HPO 68 166449002 263681008 373717006

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 05-Mar-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 : 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.

Related Diseases for Premature Ovarian Failure 16

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 05-Mar-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 05-Mar-2021)

Drugs & Therapeutics for Premature Ovarian Failure 16

Search Clinical Trials , NIH Clinical Center 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:

# Title Authors PMID Year
1
Basonuclin 1 deficiency is a cause of primary ovarian insufficiency. 57
30010909 2018
2
31P NMR of diisopropyl phosphoryl alpha-chymotrypsin and catechol cyclic phosphate alpha-chymotrypsin. Direct observation of two conformational isomers. 6
10909 1976

Variations for Premature Ovarian Failure 16

ClinVar genetic disease variations for Premature Ovarian Failure 16:

6
# 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 rs1596591051 15:83932934-83932938 15:83264182-83264186

Expression for Premature Ovarian Failure 16

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

Pathways for Premature Ovarian Failure 16

GO Terms for Premature Ovarian Failure 16

Sources for Premature Ovarian Failure 16

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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