POF17
MCID: PRM348
MIFTS: 16

Premature Ovarian Failure 17 (POF17)

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

Aliases & Classifications for Premature Ovarian Failure 17

MalaCards integrated aliases for Premature Ovarian Failure 17:

Name: Premature Ovarian Failure 17 57 29 6
Pof17 57

Characteristics:

HPO:

31
premature ovarian failure 17:
Inheritance autosomal recessive inheritance
Onset and clinical course young adult onset


Classifications:



External Ids:

OMIM® 57 619146
OMIM Phenotypic Series 57 PS311360
SNOMED-CT via HPO 68 166449002 258211005 373717006

Summaries for Premature Ovarian Failure 17

OMIM® : 57 Premature ovarian failure-17 (POF17) is characterized by early cessation of menses after initial menarche, with small ovaries and uterus (Zhang et al., 2019). For a discussion of genetic heterogeneity of premature ovarian failure, see POF1 (311360). (619146) (Updated 05-Apr-2021)

MalaCards based summary : Premature Ovarian Failure 17, is also known as pof17. An important gene associated with Premature Ovarian Failure 17 is XRCC2 (X-Ray Repair Cross Complementing 2). Affiliated tissues include uterus, and related phenotypes are premature ovarian insufficiency and decreased serum estradiol

Symptoms & Phenotypes for Premature Ovarian Failure 17

Human phenotypes related to Premature Ovarian Failure 17:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 premature ovarian insufficiency 31 very rare (1%) HP:0008209
2 decreased serum estradiol 31 very rare (1%) HP:0008214
3 elevated circulating follicle stimulating hormone level 31 very rare (1%) HP:0008232
4 elevated circulating luteinizing hormone level 31 very rare (1%) HP:0011969
5 decreased inhibin b level 31 very rare (1%) HP:0031100
6 decreased antimullerian hormone level 31 very rare (1%) HP:0031103

Clinical features from OMIM®:

619146 (Updated 05-Apr-2021)

Drugs & Therapeutics for Premature Ovarian Failure 17

Search Clinical Trials , NIH Clinical Center for Premature Ovarian Failure 17

Genetic Tests for Premature Ovarian Failure 17

Genetic tests related to Premature Ovarian Failure 17:

# Genetic test Affiliating Genes
1 Premature Ovarian Failure 17 29 XRCC2

Anatomical Context for Premature Ovarian Failure 17

MalaCards organs/tissues related to Premature Ovarian Failure 17:

40
Uterus

Publications for Premature Ovarian Failure 17

Articles related to Premature Ovarian Failure 17:

# Title Authors PMID Year
1
XRCC2 mutation causes premature ovarian insufficiency as well as non-obstructive azoospermia in humans. 57 6
30489636 2019
2
XRCC2 mutation causes meiotic arrest, azoospermia and infertility. 6
30042186 2018

Variations for Premature Ovarian Failure 17

ClinVar genetic disease variations for Premature Ovarian Failure 17:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 XRCC2 NM_005431.2(XRCC2):c.41T>C (p.Leu14Pro) SNV Pathogenic 992194 GRCh37: 7:152357866-152357866
GRCh38: 7:152660781-152660781

Expression for Premature Ovarian Failure 17

Search GEO for disease gene expression data for Premature Ovarian Failure 17.

Pathways for Premature Ovarian Failure 17

GO Terms for Premature Ovarian Failure 17

Sources for Premature Ovarian Failure 17

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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