POF2A
MCID: PRM176
MIFTS: 18

Premature Ovarian Failure 2a (POF2A)

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

Aliases & Classifications for Premature Ovarian Failure 2a

MalaCards integrated aliases for Premature Ovarian Failure 2a:

Name: Premature Ovarian Failure 2a 57 72 29 6 70
Pof2a 57 72
Ovarian Failure, Premature, Type 2a 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
x-linked dominant

Miscellaneous:
based on report of a mother and daughter (last curated april 2017)
both patients exhibited inactivation of the normal x chromosome


HPO:

31
premature ovarian failure 2a:
Inheritance x-linked dominant inheritance


Classifications:



External Ids:

OMIM® 57 300511
OMIM Phenotypic Series 57 PS311360
MeSH 44 D016649
MedGen 41 C1845293
SNOMED-CT via HPO 68 373717006 86030004
UMLS 70 C1845293

Summaries for Premature Ovarian Failure 2a

UniProtKB/Swiss-Prot : 72 Premature ovarian failure 2A: 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 2a, is also known as pof2a. An important gene associated with Premature Ovarian Failure 2a is DIAPH2 (Diaphanous Related Formin 2). Related phenotypes are premature ovarian insufficiency and secondary amenorrhea

More information from OMIM: 300511 PS311360

Symptoms & Phenotypes for Premature Ovarian Failure 2a

Human phenotypes related to Premature Ovarian Failure 2a:

31
# Description HPO Frequency HPO Source Accession
1 premature ovarian insufficiency 31 obligate (100%) HP:0008209
2 secondary amenorrhea 31 HP:0000869

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Genitourinary Internal Genitalia Female:
secondary amenorrhea
premature menopause
ovarian failure, premature

Endocrine Features:
premature ovarian failure
elevated gonadotropin levels

Clinical features from OMIM®:

300511 (Updated 05-Apr-2021)

Drugs & Therapeutics for Premature Ovarian Failure 2a

Search Clinical Trials , NIH Clinical Center for Premature Ovarian Failure 2a

Genetic Tests for Premature Ovarian Failure 2a

Genetic tests related to Premature Ovarian Failure 2a:

# Genetic test Affiliating Genes
1 Premature Ovarian Failure 2a 29 DIAPH2

Anatomical Context for Premature Ovarian Failure 2a

Publications for Premature Ovarian Failure 2a

Articles related to Premature Ovarian Failure 2a:

# Title Authors PMID Year
1
A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility. 57 6
9497258 1998
2
Eleven X chromosome breakpoints associated with premature ovarian failure (POF) map to a 15-Mb YAC contig spanning Xq21. 6 57
9070928 1997
3
A high-resolution interval map of the q21 region of the human X chromosome. 57 6
7558039 1995
4
Physical mapping of DNA markers in the q13-q22 region of the human X chromosome. 57 6
8406446 1993
5
Molecular and cytogenetic studies of an X;autosome translocation in a patient with premature ovarian failure and review of the literature. 57
7977456 1994

Variations for Premature Ovarian Failure 2a

ClinVar genetic disease variations for Premature Ovarian Failure 2a:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DIAPH2 DIAPH2, INTRONIC BREAKPOINT Variation Pathogenic 11622 GRCh37:
GRCh38:
2 DIAPH2 NM_006729.5(DIAPH2):c.247G>A (p.Ala83Thr) SNV Likely benign 790385 rs20374 GRCh37: X:95993666-95993666
GRCh38: X:96738667-96738667

Expression for Premature Ovarian Failure 2a

Search GEO for disease gene expression data for Premature Ovarian Failure 2a.

Pathways for Premature Ovarian Failure 2a

GO Terms for Premature Ovarian Failure 2a

Sources for Premature Ovarian Failure 2a

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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