POF16
MCID: PRM344
MIFTS: 15

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 56 6
Pof16 56

Classifications:



External Ids:

OMIM 56 618723
OMIM Phenotypic Series 56 PS311360

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 Deslorelin have been mentioned in the context of this disorder. Affiliated tissues include ovary and bone.

Related Diseases for Premature Ovarian Failure 16

Symptoms & Phenotypes for Premature Ovarian Failure 16

Clinical features from OMIM:

618723

Drugs & Therapeutics for Premature Ovarian Failure 16

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

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ganirelix Approved 124904-93-4, 123246-29-7 25081094
2
Deslorelin Investigational, Vet_approved 57773-65-6
3 Contraceptive Agents
4 Hormone Antagonists
5 Luteolytic Agents
6 Triptorelin Pamoate
7 Hormones
8 Antineoplastic Agents, Hormonal
9 Prolactin Release-Inhibiting Factors

Interventional clinical trials:


# 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

Genetic Tests for Premature Ovarian Failure 16

Anatomical Context for Premature Ovarian Failure 16

MalaCards organs/tissues related to Premature Ovarian Failure 16:

40
Ovary, Bone

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. 56 6
30010909 2018

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 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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