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POF4
MCID: OVR076
MIFTS: 29

Ovarian Dysgenesis 2 (POF4)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases
Genes Variations Tissues Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Ovarian Dysgenesis 2

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MalaCards integrated aliases for Ovarian Dysgenesis 2:

Name: Ovarian Dysgenesis 2 58 12 76 30 13 6 74
Premature Ovarian Failure 4 58 76 6 74
Odg2 58 76
Ovarian Failure, Hypergonadotropic, Due to Ovarian Dysgenesis 58
Ovarian Failure Hypergonadotropic Due to Ovarian Dysgenesis 76
Ovarian Dysgenesis, Hypergonadotropic, X-Linked 58
X-Linked Hypergonadotropic Ovarian Dysgenesis 76
Dysgenesis, Ovarian, Type 2 ) 41
Pof4 76

Characteristics:

OMIM:

58
Inheritance:
x-linked


HPO:

33
ovarian dysgenesis 2:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Endocrine diseases Reproductive diseases
See all MalaCards categories (disease lists)


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Summaries for Ovarian Dysgenesis 2

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OMIM : 58 Hypergonadotropic ovarian failure is a heterogeneous disorder that, in the most severe forms, is a result of ovarian dysgenesis. Ovarian dysgenesis accounts for about half the cases of primary amenorrhea (Timmreck and Reindollar, 2003). Most cases are associated with major X chromosome abnormalities. Accordingly, genetic studies have identified several loci at Xq and Xp11.2-p.22.1 whose functions are relevant for ovarian development (Zinn et al., 1998; Simpson and Rajkovic, 1999; Marozzi et al., 2000). (300510)

MalaCards based summary : Ovarian Dysgenesis 2, is also known as premature ovarian failure 4. An important gene associated with Ovarian Dysgenesis 2 is BMP15 (Bone Morphogenetic Protein 15). The drugs Estradiol and Polyestradiol phosphate have been mentioned in the context of this disorder. Affiliated tissues include uterus, ovary and bone, and related phenotypes are delayed puberty and premature ovarian insufficiency

Disease Ontology : 12 A 46 XX gonadal dysgenesis that has material basis in mutation in the BMP15 gene on chromosome Xp11.

UniProtKB/Swiss-Prot : 76 Ovarian dysgenesis 2: A disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads. Premature ovarian failure 4: 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.

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Related Diseases for Ovarian Dysgenesis 2

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Diseases in the Ovarian Dysgenesis 2 family:

Ovarian Dysgenesis 1 Ovarian Dysgenesis 3
Ovarian Dysgenesis 4 Ovarian Dysgenesis 5
Ovarian Dysgenesis 6 Ovarian Dysgenesis 7
Ovarian Dysgenesis 8

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Symptoms & Phenotypes for Ovarian Dysgenesis 2

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Human phenotypes related to Ovarian Dysgenesis 2:

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 delayed puberty 33 HP:0000823
2 premature ovarian insufficiency 33 HP:0008209
3 primary amenorrhea 33 HP:0000786
4 secondary amenorrhea 33 HP:0000869
5 hypergonadotropic hypogonadism 33 HP:0000815
6 abnormality of the uterus 33 HP:0000130
7 hypoplasia of the uterus 33 HP:0000013
8 hirsutism 33 HP:0001007
9 gonadal hypoplasia 33 HP:0008639

Symptoms via clinical synopsis from OMIM:

58
Genitourinary Internal Genitalia Female:
delayed puberty
primary amenorrhea
secondary amenorrhea
hypoplastic uterus
ovarian failure, premature
more
Skin Nails Hair Hair:
mild hirsutism
absent pubic and axillary hair

Endocrine Features:
delayed puberty
premature ovarian failure
elevated follicle-stimulating hormone (fsh) levels
elevated luteinizing hormone (lh) levels
low estradiol (e2) levels

Clinical features from OMIM:

300510
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Drugs & Therapeutics for Ovarian Dysgenesis 2

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Drugs for Ovarian Dysgenesis 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Estradiol Approved, Investigational, Vet_approved Phase 1 50-28-2 5757
2
Polyestradiol phosphate Approved Phase 1 28014-46-2
3
Calcium Approved, Nutraceutical Phase 1 7440-70-2 271
4 Estradiol 3-benzoate Phase 1
5 Calcium, Dietary Phase 1
6 Estradiol 17 beta-cypionate Phase 1

Interventional clinical trials:


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

Search NIH Clinical Center for Ovarian Dysgenesis 2

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Genetic Tests for Ovarian Dysgenesis 2

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Genetic tests related to Ovarian Dysgenesis 2:

# Genetic test Affiliating Genes
1 Ovarian Dysgenesis 2 30 BMP15
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Anatomical Context for Ovarian Dysgenesis 2

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MalaCards organs/tissues related to Ovarian Dysgenesis 2:

42
Uterus, Ovary, Bone
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Publications for Ovarian Dysgenesis 2

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Articles related to Ovarian Dysgenesis 2:

# Title Authors Year
1
BMP15 mutations associated with primary ovarian insufficiency cause a defective production of bioactive protein. ( 19263482 )
2009
2
Identification of new variants of human BMP15 gene in a large cohort of women with premature ovarian failure. ( 16464940 )
2006
3
Missense mutations in the BMP15 gene are associated with ovarian failure. ( 16508750 )
2006
4
Hypergonadotropic ovarian failure associated with an inherited mutation of human bone morphogenetic protein-15 (BMP15) gene. ( 15136966 )
2004
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Variations for Ovarian Dysgenesis 2

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UniProtKB/Swiss-Prot genetic disease variations for Ovarian Dysgenesis 2:

76 (show all 13)
# Symbol AA change Variation ID SNP ID
1 BMP15 p.Tyr235Cys VAR_021195 rs104894765
2 BMP15 p.Arg61Gln VAR_058975
3 BMP15 p.Arg61Trp VAR_058976 rs144392417
4 BMP15 p.Arg68Trp VAR_058977 rs104894763
5 BMP15 p.Arg76Cys VAR_058978 rs104894766
6 BMP15 p.Arg76His VAR_058979
7 BMP15 p.Arg138His VAR_058981 rs371418883
8 BMP15 p.Leu148Pro VAR_058982 rs114823607
9 BMP15 p.Asn196Lys VAR_058985
10 BMP15 p.Arg206His VAR_058986 rs782516193
11 BMP15 p.Trp221Arg VAR_058987 rs375284458
12 BMP15 p.Ile243Val VAR_058988 rs782379521
13 BMP15 p.Arg329Cys VAR_066933 rs782375794

ClinVar genetic disease variations for Ovarian Dysgenesis 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 BMP15 NM_005448.2(BMP15): c.704A> G (p.Tyr235Cys) single nucleotide variant Pathogenic rs104894765 GRCh37 Chromosome X, 50659132: 50659132
2 BMP15 NM_005448.2(BMP15): c.704A> G (p.Tyr235Cys) single nucleotide variant Pathogenic rs104894765 GRCh38 Chromosome X, 50916132: 50916132
3 BMP15 NM_005448.2(BMP15): c.226C> T (p.Arg76Cys) single nucleotide variant Pathogenic rs104894766 GRCh37 Chromosome X, 50654009: 50654009
4 BMP15 NM_005448.2(BMP15): c.226C> T (p.Arg76Cys) single nucleotide variant Pathogenic rs104894766 GRCh38 Chromosome X, 50911009: 50911009
5 BMP15 NM_005448.2(BMP15): c.538G> A (p.Ala180Thr) single nucleotide variant Likely benign rs104894767 GRCh37 Chromosome X, 50658966: 50658966
6 BMP15 NM_005448.2(BMP15): c.538G> A (p.Ala180Thr) single nucleotide variant Likely benign rs104894767 GRCh38 Chromosome X, 50915966: 50915966
7 BMP15 NM_005448.2(BMP15): c.631C> T (p.Gln211Ter) single nucleotide variant Pathogenic rs137853320 GRCh37 Chromosome X, 50659059: 50659059
8 BMP15 NM_005448.2(BMP15): c.631C> T (p.Gln211Ter) single nucleotide variant Pathogenic rs137853320 GRCh38 Chromosome X, 50916059: 50916059
9 BMP15 NM_005448.2(BMP15): c.202C> T (p.Arg68Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs104894763 GRCh37 Chromosome X, 50653985: 50653985
10 BMP15 NM_005448.2(BMP15): c.202C> T (p.Arg68Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs104894763 GRCh38 Chromosome X, 50910985: 50910985
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Expression for Ovarian Dysgenesis 2

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Search GEO for disease gene expression data for Ovarian Dysgenesis 2.
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Pathways for Ovarian Dysgenesis 2

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GO Terms for Ovarian Dysgenesis 2

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Sources for Ovarian Dysgenesis 2

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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