POF6
MCID: PRM090
MIFTS: 24

Premature Ovarian Failure 6 (POF6)

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

Aliases & Classifications for Premature Ovarian Failure 6

MalaCards integrated aliases for Premature Ovarian Failure 6:

Name: Premature Ovarian Failure 6 57 72 29 13 6 70
Pof6 57 72
Ovarian Failure, Premature, Type 6 39

Characteristics:

OMIM®:

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


HPO:

31
premature ovarian failure 6:
Inheritance sex-limited autosomal dominant


Classifications:



External Ids:

OMIM® 57 612310
OMIM Phenotypic Series 57 PS311360
MeSH 44 D016649
MedGen 41 C2676742
UMLS 70 C2676742

Summaries for Premature Ovarian Failure 6

UniProtKB/Swiss-Prot : 72 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 uterus and ovary, and related phenotypes are female infertility and streak ovary

More information from OMIM: 612310 PS311360

Symptoms & Phenotypes for Premature Ovarian Failure 6

Human phenotypes related to Premature Ovarian Failure 6:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 female infertility 31 very rare (1%) HP:0008222
2 streak ovary 31 very rare (1%) HP:0010464
3 hypoplasia of the uterus 31 very rare (1%) HP:0000013
4 premature ovarian insufficiency 31 HP:0008209
5 primary amenorrhea 31 HP:0000786
6 secondary amenorrhea 31 HP:0000869
7 elevated circulating follicle stimulating hormone level 31 HP:0008232
8 elevated circulating luteinizing hormone level 31 HP:0011969

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Genitourinary Internal Genitalia Female:
primary amenorrhea
secondary amenorrhea
small uterus
streak ovaries
small or absent ovaries
more
Endocrine Features:
premature ovarian failure
elevated follicle-stimulating hormone (fsh) levels
elevated luteinizing hormone (lh) levels
low estradiol (e2) levels

Clinical features from OMIM®:

612310 (Updated 05-Apr-2021)

Drugs & Therapeutics for Premature Ovarian Failure 6

Search Clinical Trials , 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:

40
Uterus, Ovary

Publications for Premature Ovarian Failure 6

Articles related to Premature Ovarian Failure 6:

# Title Authors PMID Year
1
Bi-allelic recessive loss-of-function mutations in FIGLA cause premature ovarian insufficiency with short stature. 6 57
30474133 2019
2
Consanguineous familial study revealed biallelic FIGLA mutation associated with premature ovarian insufficiency. 57 6
29914564 2018
3
Transcription factor FIGLA is mutated in patients with premature ovarian failure. 57 6
18499083 2008
4
Mutational analysis of the FIGLA gene in women with idiopathic premature ovarian failure. 57
25314148 2015
5
Hyper-Cross-linked Porous Organic Frameworks with Ultramicropores for Selective Xenon Capture. 61
30888146 2019
6
Identification of a conserved F-box protein 6 interactor essential for endocytosis and cytokinesis in fission yeast. 61
19243310 2009
7
Skp1 and the F-box protein Pof6 are essential for cell separation in fission yeast. 61
12511573 2003
8
An analysis of the variation of plasma concentrations of placental protein 14 in artificial cycles. 61
1555688 1992

Variations for Premature Ovarian Failure 6

ClinVar genetic disease variations for Premature Ovarian Failure 6:

6 (show all 24)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FIGLA NM_001004311.3(FIGLA):c.15_36del (p.Gly6fs) Deletion Pathogenic 2137 rs587776535 GRCh37: 2:71017735-71017756
GRCh38: 2:70790603-70790624
2 FIGLA NM_001004311.3(FIGLA):c.416_418ACA[1] (p.Asn140del) Microsatellite Pathogenic 2138 rs71647804 GRCh37: 2:71012735-71012737
GRCh38: 2:70785603-70785605
3 FIGLA NM_001004311.3(FIGLA):c.2T>C (p.Met1Thr) SNV Pathogenic 635131 rs1001164504 GRCh37: 2:71017769-71017769
GRCh38: 2:70790637-70790637
4 FIGLA NM_001004311.3(FIGLA):c.566G>A (p.Ser189Asn) SNV Uncertain significance 336906 rs201941812 GRCh37: 2:71012590-71012590
GRCh38: 2:70785458-70785458
5 FIGLA NM_001004311.3(FIGLA):c.247C>T (p.Arg83Cys) SNV Uncertain significance 898225 GRCh37: 2:71014918-71014918
GRCh38: 2:70787786-70787786
6 FIGLA NM_001004311.3(FIGLA):c.384+11A>G SNV Uncertain significance 336910 rs886056271 GRCh37: 2:71014770-71014770
GRCh38: 2:70787638-70787638
7 FIGLA NM_001004311.3(FIGLA):c.154G>A (p.Gly52Ser) SNV Uncertain significance 336913 rs554656682 GRCh37: 2:71017617-71017617
GRCh38: 2:70790485-70790485
8 FIGLA NM_001004311.3(FIGLA):c.73G>A (p.Val25Met) SNV Uncertain significance 898227 GRCh37: 2:71017698-71017698
GRCh38: 2:70790566-70790566
9 FIGLA NM_001004311.3(FIGLA):c.29C>A (p.Pro10His) SNV Uncertain significance 899335 GRCh37: 2:71017742-71017742
GRCh38: 2:70790610-70790610
10 FIGLA NM_001004311.3(FIGLA):c.28C>T (p.Pro10Ser) SNV Uncertain significance 899336 GRCh37: 2:71017743-71017743
GRCh38: 2:70790611-70790611
11 FIGLA NM_001004311.3(FIGLA):c.21C>T (p.Val7=) SNV Uncertain significance 899337 GRCh37: 2:71017750-71017750
GRCh38: 2:70790618-70790618
12 FIGLA NM_001004311.3(FIGLA):c.248G>A (p.Arg83His) SNV Likely benign 336911 rs199702150 GRCh37: 2:71014917-71014917
GRCh38: 2:70787785-70787785
13 FIGLA NM_001004311.3(FIGLA):c.443C>T (p.Ser148Leu) SNV Likely benign 336908 rs200500974 GRCh37: 2:71012713-71012713
GRCh38: 2:70785581-70785581
14 FIGLA NM_001004311.3(FIGLA):c.585A>G (p.Glu195=) SNV Likely benign 896600 GRCh37: 2:71012571-71012571
GRCh38: 2:70785439-70785439
15 FIGLA NM_001004311.3(FIGLA):c.277C>A (p.Pro93Thr) SNV Likely benign 898224 GRCh37: 2:71014888-71014888
GRCh38: 2:70787756-70787756
16 FIGLA NM_001004311.3(FIGLA):c.231+15G>A SNV Benign 898226 GRCh37: 2:71017525-71017525
GRCh38: 2:70790393-70790393
17 FIGLA NM_001004311.3(FIGLA):c.422G>C (p.Ser141Thr) SNV Benign 336909 rs7566476 GRCh37: 2:71012734-71012734
GRCh38: 2:70785602-70785602
18 FIGLA NM_001004311.3(FIGLA):c.234A>T (p.Ile78=) SNV Benign 336912 rs199650129 GRCh37: 2:71014931-71014931
GRCh38: 2:70787799-70787799
19 FIGLA NM_001004311.3(FIGLA):c.625G>A (p.Val209Ile) SNV Benign 895185 GRCh37: 2:71004788-71004788
GRCh38: 2:70777656-70777656
20 FIGLA NM_001004311.3(FIGLA):c.84C>A (p.Asp28Glu) SNV Benign 336914 rs373561603 GRCh37: 2:71017687-71017687
GRCh38: 2:70790555-70790555
21 FIGLA NM_001004311.3(FIGLA):c.*7A>G SNV Benign 197699 rs56316086 GRCh37: 2:71004492-71004492
GRCh38: 2:70777360-70777360
22 FIGLA NM_001004311.3(FIGLA):c.*5T>A SNV Benign 197698 rs56135050 GRCh37: 2:71004494-71004494
GRCh38: 2:70777362-70777362
23 FIGLA NM_001004311.3(FIGLA):c.*53A>C SNV Benign 336904 rs150205874 GRCh37: 2:71004446-71004446
GRCh38: 2:70777314-70777314
24 FIGLA NM_001004311.3(FIGLA):c.552C>T (p.His184=) SNV Benign 336907 rs7566541 GRCh37: 2:71012604-71012604
GRCh38: 2:70785472-70785472

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 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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