ODG8
MCID: OVR120
MIFTS: 19

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 57 12 72 29 6
Odg8 57 72
Dysgenesis, Ovarian, Type 8 39

Characteristics:

OMIM®:

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

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


HPO:

31
ovarian dysgenesis 8:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080500
OMIM® 57 618187
OMIM Phenotypic Series 57 PS233300
MeSH 44 D023961

Summaries for Ovarian Dysgenesis 8

OMIM® : 57 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) (Updated 05-Apr-2021)

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 breast and uterus, and related phenotypes are osteoporosis and primary amenorrhea

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 : 72 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:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 osteoporosis 31 HP:0000939
2 primary amenorrhea 31 HP:0000786
3 hypoplastic labia majora 31 HP:0000059
4 elevated circulating follicle stimulating hormone level 31 HP:0008232
5 elevated circulating luteinizing hormone level 31 HP:0011969
6 eunuchoid habitus 31 HP:0003782

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 luteinizing hormone (lh)
elevated follicle-stimulating hormone (fsh)
low anti-mullerian hormone (amh)
low serum e2 estradiol

Growth Other:
eunuchoid habitus

Chest Breasts:
absent breast development

Clinical features from OMIM®:

618187 (Updated 05-Apr-2021)

Drugs & Therapeutics for Ovarian Dysgenesis 8

Search Clinical Trials , NIH Clinical Center for Ovarian Dysgenesis 8

Genetic Tests for Ovarian Dysgenesis 8

Genetic tests related to Ovarian Dysgenesis 8:

# Genetic test Affiliating Genes
1 Ovarian Dysgenesis 8 29 ESR2

Anatomical Context for Ovarian Dysgenesis 8

MalaCards organs/tissues related to Ovarian Dysgenesis 8:

40
Breast, Uterus

Publications for Ovarian Dysgenesis 8

Articles related to Ovarian Dysgenesis 8:

# Title Authors PMID Year
1
Early-Onset Complete Ovarian Failure and Lack of Puberty in a Woman With Mutated Estrogen Receptor β (ESR2). 57 6
30113650 2018

Variations for Ovarian Dysgenesis 8

ClinVar genetic disease variations for Ovarian Dysgenesis 8:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ESR2 NM_001040275.1(ESR2):c.941A>G (p.Lys314Arg) SNV Pathogenic 590785 rs1567753148 GRCh37: 14:64727178-64727178
GRCh38: 14:64260460-64260460

UniProtKB/Swiss-Prot genetic disease variations for Ovarian Dysgenesis 8:

72
# Symbol AA change Variation ID SNP ID
1 ESR2 p.Lys314Arg VAR_081788 rs156775314

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
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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