ODG7
MCID: OVR119
MIFTS: 21

Ovarian Dysgenesis 7 (ODG7)

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

Aliases & Classifications for Ovarian Dysgenesis 7

MalaCards integrated aliases for Ovarian Dysgenesis 7:

Name: Ovarian Dysgenesis 7 57 12 72 29 6
Odg7 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
ovarian dysgenesis 7:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080499
OMIM® 57 618117
OMIM Phenotypic Series 57 PS233300
MeSH 44 D023961

Summaries for Ovarian Dysgenesis 7

OMIM® : 57 Ovarian dysgenesis-7 is characterized by primary amenorrhea, delayed puberty, elevated gonadotropic hormones, and small uterus and ovaries. Ovarian histology shows fibrotic ovaries without follicles (Chen et al., 2018). For a discussion of genetic heterogeneity of ovarian dysgenesis, see ODG1 (233300). (618117) (Updated 20-May-2021)

MalaCards based summary : Ovarian Dysgenesis 7, is also known as odg7. An important gene associated with Ovarian Dysgenesis 7 is MRPS22 (Mitochondrial Ribosomal Protein S22). Affiliated tissues include uterus, bone and breast, and related phenotypes are delayed skeletal maturation and delayed puberty

Disease Ontology : 12 A 46 XX gonadal dysgenesis that has material basis in homozygous mutation in the MRPS22 gene on chromosome 3q23.

UniProtKB/Swiss-Prot : 72 Ovarian dysgenesis 7: 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. ODG7 is an autosomal recessive condition.

Related Diseases for Ovarian Dysgenesis 7

Symptoms & Phenotypes for Ovarian Dysgenesis 7

Human phenotypes related to Ovarian Dysgenesis 7:

31
# Description HPO Frequency HPO Source Accession
1 delayed skeletal maturation 31 HP:0002750
2 delayed puberty 31 HP:0000823
3 primary amenorrhea 31 HP:0000786
4 hypoplasia of the uterus 31 HP:0000013

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Endocrine Features:
delayed puberty
primary amenorrhea
elevated follicle-stimulating hormone (fsh) levels
elevated luteinizing hormone (lh) levels
low or nondetectable estradiol (e2) levels

Genitourinary Internal Genitalia Female:
small uterus
small or nonvisualized ovaries
fibrotic ovaries
no follicles in ovaries

Skeletal:
delayed bone age

Chest Breasts:
delayed breast development

Clinical features from OMIM®:

618117 (Updated 20-May-2021)

Drugs & Therapeutics for Ovarian Dysgenesis 7

Search Clinical Trials , NIH Clinical Center for Ovarian Dysgenesis 7

Genetic Tests for Ovarian Dysgenesis 7

Genetic tests related to Ovarian Dysgenesis 7:

# Genetic test Affiliating Genes
1 Ovarian Dysgenesis 7 29 MRPS22

Anatomical Context for Ovarian Dysgenesis 7

MalaCards organs/tissues related to Ovarian Dysgenesis 7:

40
Uterus, Bone, Breast

Publications for Ovarian Dysgenesis 7

Articles related to Ovarian Dysgenesis 7:

# Title Authors PMID Year
1
Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency. 57 6
29566152 2018
2
A (R80Q) mutation in 17 beta-hydroxysteroid dehydrogenase type 3 gene among Arabs of Israel is associated with pseudohermaphroditism in males and normal asymptomatic females. 57
8626842 1996

Variations for Ovarian Dysgenesis 7

ClinVar genetic disease variations for Ovarian Dysgenesis 7:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MRPS22 NM_020191.4(MRPS22):c.404G>A (p.Arg135Gln) SNV Pathogenic 496583 rs774237195 GRCh37: 3:139067066-139067066
GRCh38: 3:139348224-139348224
2 MRPS22 NM_020191.3(MRPS22):c.605G>A (p.Arg202His) SNV Pathogenic 441255 rs753345594 GRCh37: 3:139069121-139069121
GRCh38: 3:139350279-139350279
3 MRPS22 NM_020191.4(MRPS22):c.16A>G (p.Thr6Ala) SNV Uncertain significance 1029742 GRCh37: 3:139062884-139062884
GRCh38: 3:139344042-139344042

Expression for Ovarian Dysgenesis 7

Search GEO for disease gene expression data for Ovarian Dysgenesis 7.

Pathways for Ovarian Dysgenesis 7

GO Terms for Ovarian Dysgenesis 7

Sources for Ovarian Dysgenesis 7

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....