MCID: PRM176
MIFTS: 16

Premature Ovarian Failure 2a

Categories: Genetic diseases, Endocrine diseases, Reproductive diseases

Aliases & Classifications for Premature Ovarian Failure 2a

MalaCards integrated aliases for Premature Ovarian Failure 2a:

Name: Premature Ovarian Failure 2a 57 75 29 6 73
Pof2a 57 75
Ovarian Failure, Premature, Type 2a 40

Characteristics:

OMIM:

57
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:

32
premature ovarian failure 2a:
Inheritance x-linked dominant inheritance


Classifications:



External Ids:

OMIM 57 300511
MedGen 42 C1845293
MeSH 44 D016649
SNOMED-CT via HPO 69 86030004 373717006
UMLS 73 C1845293

Summaries for Premature Ovarian Failure 2a

UniProtKB/Swiss-Prot : 75 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 secondary amenorrhea and premature ovarian insufficiency

Description from OMIM: 300511

Related Diseases for Premature Ovarian Failure 2a

Symptoms & Phenotypes for Premature Ovarian Failure 2a

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Internal Genitalia Female:
secondary amenorrhea
premature menopause
ovarian failure, premature

Endocrine Features:
premature ovarian failure
elevated gonadotropin levels


Clinical features from OMIM:

300511

Human phenotypes related to Premature Ovarian Failure 2a:

32
# Description HPO Frequency HPO Source Accession
1 secondary amenorrhea 32 HP:0000869
2 premature ovarian insufficiency 32 obligate (100%) HP:0008209

Drugs & Therapeutics for Premature Ovarian Failure 2a

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Inovium Ovarian Rejuvenation Trials Completed NCT03178695 Phase 1

Search 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

Variations for Premature Ovarian Failure 2a

ClinVar genetic disease variations for Premature Ovarian Failure 2a:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DIAPH2 DIAPH2, INTRONIC BREAKPOINT undetermined variant Pathogenic

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 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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