ODG7
MCID: OVR119
MIFTS: 10

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 6
Odg7 57

Classifications:



External Ids:

OMIM 57 618117

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). (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 and uterus.

Related Diseases for Ovarian Dysgenesis 7

Symptoms & Phenotypes for Ovarian Dysgenesis 7

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:

41
Ovary, Uterus

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

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10 dbSNP
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17 ExPASy
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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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