ODG7
MCID: OVR119
MIFTS: 17

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 58 12 76 6
Odg7 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


Classifications:



External Ids:

Disease Ontology 12 DOID:0080499
OMIM 58 618117
MeSH 45 D023961
MedGen 43 CN253833

Summaries for Ovarian Dysgenesis 7

OMIM : 58 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)

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 ovary, uterus and bone.

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 : 76 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

Symptoms via clinical synopsis from OMIM:

58
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

Drugs & Therapeutics for Ovarian Dysgenesis 7

Search Clinical Trials , NIH Clinical Center for Ovarian Dysgenesis 7

Genetic Tests for Ovarian Dysgenesis 7

Anatomical Context for Ovarian Dysgenesis 7

MalaCards organs/tissues related to Ovarian Dysgenesis 7:

42
Ovary, Uterus, Bone, Breast

Publications for Ovarian Dysgenesis 7

Variations for Ovarian Dysgenesis 7

ClinVar genetic disease variations for Ovarian Dysgenesis 7:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MRPS22 NM_020191.2(MRPS22): c.605G> A (p.Arg202His) single nucleotide variant Pathogenic rs753345594 GRCh37 Chromosome 3, 139069121: 139069121
2 MRPS22 NM_020191.2(MRPS22): c.605G> A (p.Arg202His) single nucleotide variant Pathogenic rs753345594 GRCh38 Chromosome 3, 139350279: 139350279
3 MRPS22 NM_020191.2(MRPS22): c.404G> A (p.Arg135Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs774237195 GRCh37 Chromosome 3, 139067066: 139067066
4 MRPS22 NM_020191.2(MRPS22): c.404G> A (p.Arg135Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs774237195 GRCh38 Chromosome 3, 139348224: 139348224

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
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35 ICD10 via Orphanet
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45 MeSH
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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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