ODG8
MCID: OVR120
MIFTS: 18

Ovarian Dysgenesis 8 (ODG8)

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

Aliases & Classifications for Ovarian Dysgenesis 8

MalaCards integrated aliases for Ovarian Dysgenesis 8:

Name: Ovarian Dysgenesis 8 58 12 76 6
Odg8 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
based on report of 1 patient (last curated november 2018)


Classifications:



External Ids:

Disease Ontology 12 DOID:0080500
OMIM 58 618187
MeSH 45 D023961
MedGen 43 CN257790
SNOMED-CT via HPO 70 289469003 8913004

Summaries for Ovarian Dysgenesis 8

OMIM : 58 Ovarian dysgenesis-8 (ODG8) is characterized by complete lack of estrogen action, resulting in absent breast development, primary amenorrhea, and osteoporosis (Lang-Muritano et al., 2018). For a discussion of genetic heterogeneity of ovarian dysgenesis, see ODG1 (233300). (618187)

MalaCards based summary : Ovarian Dysgenesis 8, is also known as odg8. An important gene associated with Ovarian Dysgenesis 8 is ESR2 (Estrogen Receptor 2). Affiliated tissues include ovary and uterus, and related phenotypes are primary amenorrhea and hypoplastic labia majora

Disease Ontology : 12 A 46 XX gonadal dysgenesis that has material basis in heterozygous mutation in the ESR2 gene on chromosome 14q23.

UniProtKB/Swiss-Prot : 76 Ovarian dysgenesis 8: A form of ovarian dysgenesis, a disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads.

Related Diseases for Ovarian Dysgenesis 8

Symptoms & Phenotypes for Ovarian Dysgenesis 8

Human phenotypes related to Ovarian Dysgenesis 8:

33
# Description HPO Frequency HPO Source Accession
1 primary amenorrhea 33 HP:0000786
2 hypoplastic labia majora 33 HP:0000059
3 elevated circulating follicle stimulating hormone level 33 HP:0008232
4 elevated circulating luteinizing hormone level 33 HP:0011969

Symptoms via clinical synopsis from OMIM:

58
Genitourinary Internal Genitalia Female:
primary amenorrhea
infantile uterus
streak ovaries without follicles

Genitourinary External Genitalia Female:
hypoplastic labia majora
infantile vulva

Skeletal:
severe osteoporosis

Endocrine Features:
primary amenorrhea
elevated follicle-stimulating hormone (fsh)
elevated luteinizing hormone (lh)
low serum e2 estradiol
low anti-mullerian hormone (amh)

Growth Other:
eunuchoid habitus

Chest Breasts:
absent breast development

Clinical features from OMIM:

618187

Drugs & Therapeutics for Ovarian Dysgenesis 8

Search Clinical Trials , NIH Clinical Center for Ovarian Dysgenesis 8

Genetic Tests for Ovarian Dysgenesis 8

Anatomical Context for Ovarian Dysgenesis 8

MalaCards organs/tissues related to Ovarian Dysgenesis 8:

42
Ovary, Uterus

Publications for Ovarian Dysgenesis 8

Articles related to Ovarian Dysgenesis 8:

# Title Authors Year
1
Early-Onset Complete Ovarian Failure and Lack of Puberty in a Woman With Mutated Estrogen Receptor β (ESR2). ( 30113650 )
2018

Variations for Ovarian Dysgenesis 8

ClinVar genetic disease variations for Ovarian Dysgenesis 8:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ESR2 NM_001040275.1(ESR2): c.941A> G (p.Lys314Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 14, 64260460: 64260460
2 ESR2 NM_001040275.1(ESR2): c.941A> G (p.Lys314Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 14, 64727178: 64727178

Expression for Ovarian Dysgenesis 8

Search GEO for disease gene expression data for Ovarian Dysgenesis 8.

Pathways for Ovarian Dysgenesis 8

GO Terms for Ovarian Dysgenesis 8

Sources for Ovarian Dysgenesis 8

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
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