MCID: PRM090
MIFTS: 18

Premature Ovarian Failure 6

Categories: Genetic diseases, Endocrine diseases, Reproductive diseases

Aliases & Classifications for Premature Ovarian Failure 6

MalaCards integrated aliases for Premature Ovarian Failure 6:

Name: Premature Ovarian Failure 6 57 75 29 13 6 73
Pof6 57 75
Ovarian Failure, Premature, Type 6 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
based on one report of two chinese women (last curated april 2017)


HPO:

32
premature ovarian failure 6:
Inheritance sex-limited autosomal dominant


Classifications:



External Ids:

OMIM 57 612310
MedGen 42 C2676742
MeSH 44 D016649
SNOMED-CT via HPO 69 35850006 373717006
UMLS 73 C2676742

Summaries for Premature Ovarian Failure 6

UniProtKB/Swiss-Prot : 75 Premature ovarian failure 6: 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 6, is also known as pof6. An important gene associated with Premature Ovarian Failure 6 is FIGLA (Folliculogenesis Specific BHLH Transcription Factor). Affiliated tissues include ovary and uterus, and related phenotypes are hypoplasia of the uterus and premature ovarian insufficiency

Description from OMIM: 612310

Related Diseases for Premature Ovarian Failure 6

Symptoms & Phenotypes for Premature Ovarian Failure 6

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Internal Genitalia Female:
small or absent ovaries
ovaries devoid of follicles
streak ovaries
small uterus
atrophic endometrium

Endocrine Features:
premature ovarian failure
elevated follicle-stimulating hormone (fsh) levels


Clinical features from OMIM:

612310

Human phenotypes related to Premature Ovarian Failure 6:

32
# Description HPO Frequency HPO Source Accession
1 hypoplasia of the uterus 32 HP:0000013
2 premature ovarian insufficiency 32 HP:0008209

Drugs & Therapeutics for Premature Ovarian Failure 6

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 6

Genetic Tests for Premature Ovarian Failure 6

Genetic tests related to Premature Ovarian Failure 6:

# Genetic test Affiliating Genes
1 Premature Ovarian Failure 6 29 FIGLA

Anatomical Context for Premature Ovarian Failure 6

MalaCards organs/tissues related to Premature Ovarian Failure 6:

41
Ovary, Uterus

Publications for Premature Ovarian Failure 6

Variations for Premature Ovarian Failure 6

ClinVar genetic disease variations for Premature Ovarian Failure 6:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FIGLA NM_001004311.3(FIGLA): c.15_36del22 (p.Gly6Argfs) deletion Pathogenic rs587776535 GRCh38 Chromosome 2, 70790603: 70790624
2 FIGLA FIGLA, 3-BP DEL, 419ACA deletion Pathogenic
3 FIGLA NM_001004311.3(FIGLA): c.15_36del22 (p.Gly6Argfs) deletion Pathogenic rs587776535 GRCh37 Chromosome 2, 71017735: 71017756

Expression for Premature Ovarian Failure 6

Search GEO for disease gene expression data for Premature Ovarian Failure 6.

Pathways for Premature Ovarian Failure 6

GO Terms for Premature Ovarian Failure 6

Sources for Premature Ovarian Failure 6

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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