ODG3
MCID: OVR102
MIFTS: 19

Ovarian Dysgenesis 3 (ODG3)

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

Aliases & Classifications for Ovarian Dysgenesis 3

MalaCards integrated aliases for Ovarian Dysgenesis 3:

Name: Ovarian Dysgenesis 3 58 12 76 30 13 6 74
Odg3 58 76
Dysgenesis, Ovarian, Type 3 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
ovarian dysgenesis 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080495
OMIM 58 614324
MeSH 45 D023961
MedGen 43 C3280471
SNOMED-CT via HPO 70 258211005 8913004
UMLS 74 C3280471

Summaries for Ovarian Dysgenesis 3

UniProtKB/Swiss-Prot : 76 Ovarian dysgenesis 3: A disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads.

MalaCards based summary : Ovarian Dysgenesis 3, is also known as odg3. An important gene associated with Ovarian Dysgenesis 3 is PSMC3IP (PSMC3 Interacting Protein). Related phenotypes are primary amenorrhea and endocrine/exocrine gland

Disease Ontology : 12 A 46 XX gonadal dysgenesis that has material basis in homozygous mutation in the PSMC3IP gene on chromosome 17q12-q21.

Description from OMIM: 614324

Related Diseases for Ovarian Dysgenesis 3

Symptoms & Phenotypes for Ovarian Dysgenesis 3

Human phenotypes related to Ovarian Dysgenesis 3:

33
# Description HPO Frequency HPO Source Accession
1 primary amenorrhea 33 HP:0000786

Symptoms via clinical synopsis from OMIM:

58
Endocrine Features:
primary amenorrhea
luteinizing hormone levels elevated
follicle-stimulating hormone levels elevated
estradiol undetectable
progesterone undetectable
more
Chest Breasts:
breasts underdeveloped

Genitourinary Internal Genitalia Female:
ovarian dysgenesis
uterine hypoplasia

Genitourinary External Genitalia Female:
pubic hair underdeveloped

Clinical features from OMIM:

614324

MGI Mouse Phenotypes related to Ovarian Dysgenesis 3:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 8.62 NRXN1 PSMC3IP

Drugs & Therapeutics for Ovarian Dysgenesis 3

Search Clinical Trials , NIH Clinical Center for Ovarian Dysgenesis 3

Genetic Tests for Ovarian Dysgenesis 3

Genetic tests related to Ovarian Dysgenesis 3:

# Genetic test Affiliating Genes
1 Ovarian Dysgenesis 3 30 PSMC3IP

Anatomical Context for Ovarian Dysgenesis 3

Publications for Ovarian Dysgenesis 3

Articles related to Ovarian Dysgenesis 3:

# Title Authors Year
1
XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcription. ( 21963259 )
2011

Variations for Ovarian Dysgenesis 3

ClinVar genetic disease variations for Ovarian Dysgenesis 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PSMC3IP PSMC3IP, 3-BP DEL, 600GAG deletion Pathogenic
2 NRXN1 NM_001135659.2(NRXN1): c.162G> A (p.Met54Ile) single nucleotide variant Likely benign rs1057519409 GRCh37 Chromosome 2, 51255250: 51255250
3 NRXN1 NM_001135659.2(NRXN1): c.162G> A (p.Met54Ile) single nucleotide variant Likely benign rs1057519409 GRCh38 Chromosome 2, 51028112: 51028112

Expression for Ovarian Dysgenesis 3

Search GEO for disease gene expression data for Ovarian Dysgenesis 3.

Pathways for Ovarian Dysgenesis 3

GO Terms for Ovarian Dysgenesis 3

Sources for Ovarian Dysgenesis 3

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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