ODG2
MCID: OVR076
MIFTS: 28

Ovarian Dysgenesis 2 (ODG2)

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

Aliases & Classifications for Ovarian Dysgenesis 2

MalaCards integrated aliases for Ovarian Dysgenesis 2:

Name: Ovarian Dysgenesis 2 57 12 74 29 13 6 72
Premature Ovarian Failure 4 57 74 29 6 72
Odg2 57 74
Ovarian Failure, Hypergonadotropic, Due to Ovarian Dysgenesis 57
Ovarian Failure Hypergonadotropic Due to Ovarian Dysgenesis 74
Ovarian Dysgenesis, Hypergonadotropic, X-Linked 57
X-Linked Hypergonadotropic Ovarian Dysgenesis 74
Dysgenesis, Ovarian, Type 2 40
Pof4 74

Characteristics:

OMIM:

57
Inheritance:
x-linked


HPO:

32
ovarian dysgenesis 2:
Inheritance x-linked inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080494
UMLS 72 C1845294 C1845295

Summaries for Ovarian Dysgenesis 2

OMIM : 57 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). 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 : 74 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.

Related Diseases for Ovarian Dysgenesis 2

Symptoms & Phenotypes for Ovarian Dysgenesis 2

Human phenotypes related to Ovarian Dysgenesis 2:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 delayed puberty 32 HP:0000823
2 premature ovarian insufficiency 32 HP:0008209
3 primary amenorrhea 32 HP:0000786
4 secondary amenorrhea 32 HP:0000869
5 hypergonadotropic hypogonadism 32 HP:0000815
6 abnormality of the uterus 32 HP:0000130
7 hypoplasia of the uterus 32 HP:0000013
8 hirsutism 32 HP:0001007
9 gonadal hypoplasia 32 HP:0008639

Symptoms via clinical synopsis from OMIM:

57
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

Drugs & Therapeutics for Ovarian Dysgenesis 2

Search Clinical Trials , NIH Clinical Center for Ovarian Dysgenesis 2

Genetic Tests for Ovarian Dysgenesis 2

Genetic tests related to Ovarian Dysgenesis 2:

# Genetic test Affiliating Genes
1 Ovarian Dysgenesis 2 29 BMP15
2 Premature Ovarian Failure 4 29

Anatomical Context for Ovarian Dysgenesis 2

MalaCards organs/tissues related to Ovarian Dysgenesis 2:

41
Uterus, Ovary, Bone

Publications for Ovarian Dysgenesis 2

Articles related to Ovarian Dysgenesis 2:

(show all 13)
# Title Authors PMID Year
1
BMP15 mutations associated with primary ovarian insufficiency cause a defective production of bioactive protein. 8 71
19263482 2009
2
Identification of new variants of human BMP15 gene in a large cohort of women with premature ovarian failure. 8 71
16464940 2006
3
Missense mutations in the BMP15 gene are associated with ovarian failure. 8 71
16508750 2006
4
Hypergonadotropic ovarian failure associated with an inherited mutation of human bone morphogenetic protein-15 (BMP15) gene. 8 71
15136966 2004
5
Contemporary issues in primary amenorrhea. 8
12836721 2003
6
Molecular definition of Xq common-deleted region in patients affected by premature ovarian failure. 8
11129329 2000
7
Mutations in an oocyte-derived growth factor gene (BMP15) cause increased ovulation rate and infertility in a dosage-sensitive manner. 8
10888873 2000
8
Ovarian differentiation and gonadal failure. 8
10727994 1999
9
Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1. 8
9837829 1998
10
The Finnish follicle-stimulating hormone receptor gene mutation is rare in North American women with 46,XX ovarian failure. 8
9496345 1998
11
Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. 8
7553856 1995
12
Infertility etiologies are genetically and clinically linked with other diseases in single meta-diseases. 38
25880215 2015
13
Chromosome studies and fertility treatment in women with ovarian failure. 38
2766572 1989

Variations for Ovarian Dysgenesis 2

ClinVar genetic disease variations for Ovarian Dysgenesis 2:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 BMP15 NM_005448.2(BMP15): c.704A> G (p.Tyr235Cys) single nucleotide variant Pathogenic rs104894765 X:50659132-50659132 X:50916132-50916132
2 BMP15 NM_005448.2(BMP15): c.226C> T (p.Arg76Cys) single nucleotide variant Pathogenic rs104894766 X:50654009-50654009 X:50911009-50911009
3 BMP15 NM_005448.2(BMP15): c.631C> T (p.Gln211Ter) single nucleotide variant Pathogenic rs137853320 X:50659059-50659059 X:50916059-50916059
4 BMP15 NM_005448.2(BMP15): c.202C> T (p.Arg68Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs104894763 X:50653985-50653985 X:50910985-50910985
5 BMP15 NM_005448.2(BMP15): c.596del (p.Gly199fs) deletion Uncertain significance X:50659021-50659022 X:50916024-50916024
6 BMP15 NM_005448.2(BMP15): c.538G> A (p.Ala180Thr) single nucleotide variant Likely benign rs104894767 X:50658966-50658966 X:50915966-50915966

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

74 (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

Expression for Ovarian Dysgenesis 2

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

Pathways for Ovarian Dysgenesis 2

GO Terms for Ovarian Dysgenesis 2

Sources for Ovarian Dysgenesis 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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