MCID: PRM255
MIFTS: 16

Premature Ovarian Failure 12

Categories: Genetic diseases, Endocrine diseases, Reproductive diseases

Aliases & Classifications for Premature Ovarian Failure 12

MalaCards integrated aliases for Premature Ovarian Failure 12:

Name: Premature Ovarian Failure 12 57 75 6
Pof12 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
premature ovarian failure 12:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 616947
MeSH 44 D016649

Summaries for Premature Ovarian Failure 12

UniProtKB/Swiss-Prot : 75 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 ovary, and related phenotypes are microphthalmia and primary amenorrhea

Description from OMIM: 616947

Related Diseases for Premature Ovarian Failure 12

Symptoms & Phenotypes for Premature Ovarian Failure 12

Symptoms via clinical synopsis from OMIM:

57
Chest Breasts:
absent thelarche (in some patients)

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

Genitourinary Internal Genitalia Female:
primary amenorrhea
small prepubertal uterus
small ovaries
few to no ovarian follicles


Clinical features from OMIM:

616947

Human phenotypes related to Premature Ovarian Failure 12:

32
# Description HPO Frequency HPO Source Accession
1 microphthalmia 32 HP:0000568
2 primary amenorrhea 32 HP:0000786
3 macular dystrophy 32 HP:0007754

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

Anatomical Context for Premature Ovarian Failure 12

MalaCards organs/tissues related to Premature Ovarian Failure 12:

41
Uterus, Ovary

Publications for Premature Ovarian Failure 12

Variations for Premature Ovarian Failure 12

ClinVar genetic disease variations for Premature Ovarian Failure 12:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SYCE1 NM_001143763.1(SYCE1): c.721C> T (p.Gln241Ter) single nucleotide variant Pathogenic rs875989885 GRCh37 Chromosome 10, 135369210: 135369210
2 SYCE1 NM_001143763.1(SYCE1): c.721C> T (p.Gln241Ter) single nucleotide variant Pathogenic rs875989885 GRCh38 Chromosome 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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