MCID: OVR076
MIFTS: 23

Ovarian Dysgenesis 2

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

Aliases & Classifications for Ovarian Dysgenesis 2

MalaCards integrated aliases for Ovarian Dysgenesis 2:

Name: Ovarian Dysgenesis 2 57 75 29 13 6 73
Premature Ovarian Failure 4 57 75 29 6 73
Odg2 57 75
Ovarian Failure, Hypergonadotropic, Due to Ovarian Dysgenesis 57
Ovarian Failure Hypergonadotropic Due to Ovarian Dysgenesis 75
Ovarian Dysgenesis, Hypergonadotropic, X-Linked 57
X-Linked Hypergonadotropic Ovarian Dysgenesis 75
Dysgenesis, Ovarian, Type 2 ) 40
Pof4 75

Characteristics:

OMIM:

57
Inheritance:
x-linked


HPO:

32
ovarian dysgenesis 2:
Inheritance autosomal dominant inheritance


Classifications:



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 and ovary, and related phenotypes are hypoplasia of the uterus and abnormality of the uterus

UniProtKB/Swiss-Prot : 75 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

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

Human phenotypes related to Ovarian Dysgenesis 2:

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

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

Publications for Ovarian Dysgenesis 2

Variations for Ovarian Dysgenesis 2

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

75 (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.631C> T (p.Gln211Ter) single nucleotide variant Pathogenic rs137853320 GRCh37 Chromosome X, 50659059: 50659059
6 BMP15 NM_005448.2(BMP15): c.631C> T (p.Gln211Ter) single nucleotide variant Pathogenic rs137853320 GRCh38 Chromosome X, 50916059: 50916059

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 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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