POF12
MCID: PRM255
MIFTS: 17

Premature Ovarian Failure 12 (POF12)

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

Aliases & Classifications for Premature Ovarian Failure 12

MalaCards integrated aliases for Premature Ovarian Failure 12:

Name: Premature Ovarian Failure 12 57 72 29 6
Pof12 57 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
based on report of 2 sisters from a consanguineous arab family (last curated may 2016)


HPO:

31
premature ovarian failure 12:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 616947
OMIM Phenotypic Series 57 PS311360
MeSH 44 D016649

Summaries for Premature Ovarian Failure 12

UniProtKB/Swiss-Prot : 72 Premature ovarian failure 12: 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.

MalaCards based summary : Premature Ovarian Failure 12, is also known as pof12. An important gene associated with Premature Ovarian Failure 12 is SYCE1 (Synaptonemal Complex Central Element Protein 1). Affiliated tissues include uterus, and related phenotypes are primary amenorrhea and microphthalmia

More information from OMIM: 616947 PS311360

Symptoms & Phenotypes for Premature Ovarian Failure 12

Human phenotypes related to Premature Ovarian Failure 12:

31
# Description HPO Frequency HPO Source Accession
1 primary amenorrhea 31 HP:0000786
2 microphthalmia 31 HP:0000568
3 macular dystrophy 31 HP:0007754

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Genitourinary Internal Genitalia Female:
primary amenorrhea
small ovaries
small prepubertal uterus
few to no ovarian follicles

Chest Breasts:
absent thelarche (in some patients)

Endocrine Features:
primary amenorrhea
elevated serum fsh
elevated serum lh
low to undetectable serum estradiol

Clinical features from OMIM®:

616947 (Updated 05-Apr-2021)

Drugs & Therapeutics for Premature Ovarian Failure 12

Search Clinical Trials , NIH Clinical Center for Premature Ovarian Failure 12

Genetic Tests for Premature Ovarian Failure 12

Genetic tests related to Premature Ovarian Failure 12:

# Genetic test Affiliating Genes
1 Premature Ovarian Failure 12 29 SYCE1

Anatomical Context for Premature Ovarian Failure 12

MalaCards organs/tissues related to Premature Ovarian Failure 12:

40
Uterus

Publications for Premature Ovarian Failure 12

Articles related to Premature Ovarian Failure 12:

# Title Authors PMID Year
1
Exome sequencing reveals SYCE1 mutation associated with autosomal recessive primary ovarian insufficiency. 57 6
25062452 2014

Variations for Premature Ovarian Failure 12

ClinVar genetic disease variations for Premature Ovarian Failure 12:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SYCE1 NM_001143764.3(SYCE1):c.721C>T (p.Gln241Ter) SNV Pathogenic 226122 rs875989885 GRCh37: 10:135369210-135369210
GRCh38: 10:133555706-133555706

Expression for Premature Ovarian Failure 12

Search GEO for disease gene expression data for Premature Ovarian Failure 12.

Pathways for Premature Ovarian Failure 12

GO Terms for Premature Ovarian Failure 12

Sources for Premature Ovarian Failure 12

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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