ODG3
MCID: OVR102
MIFTS: 23

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 57 12 72 29 13 6 70
Odg3 57 72
Dysgenesis, Ovarian, Type 3 39

Characteristics:

OMIM®:

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


HPO:

31
ovarian dysgenesis 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080495
OMIM® 57 614324
OMIM Phenotypic Series 57 PS233300
MeSH 44 D023961
MedGen 41 C3280471
SNOMED-CT via HPO 68 258211005 8913004
UMLS 70 C3280471

Summaries for Ovarian Dysgenesis 3

UniProtKB/Swiss-Prot : 72 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, also known as odg3, is related to 46,xx sex reversal 1 and williams-beuren syndrome. An important gene associated with Ovarian Dysgenesis 3 is PSMC3IP (PSMC3 Interacting Protein). Related phenotype is primary amenorrhea.

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

More information from OMIM: 614324 PS233300

Related Diseases for Ovarian Dysgenesis 3

Diseases in the Ovarian Dysgenesis 1 family:

Ovarian Dysgenesis 2 Ovarian Dysgenesis 3
Ovarian Dysgenesis 4 Ovarian Dysgenesis 5
Ovarian Dysgenesis 6 Ovarian Dysgenesis 7
Ovarian Dysgenesis 8

Diseases related to Ovarian Dysgenesis 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 2, show less)
# Related Disease Score Top Affiliating Genes
1 46,xx sex reversal 1 9.5 PSMC3IP MLX
2 williams-beuren syndrome 9.5 NRXN1 MLX

Symptoms & Phenotypes for Ovarian Dysgenesis 3

Human phenotypes related to Ovarian Dysgenesis 3:

31 (showing 1, show less)
# Description HPO Frequency HPO Source Accession
1 primary amenorrhea 31 HP:0000786

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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 29 PSMC3IP

Anatomical Context for Ovarian Dysgenesis 3

Publications for Ovarian Dysgenesis 3

Articles related to Ovarian Dysgenesis 3:

(showing 2, show less)
# Title Authors PMID Year
1
XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcription. 57 6
21963259 2011
2
Better efficacy in differentiating WHO grade II from III oligodendrogliomas with machine-learning than radiologist's reading from conventional T1 contrast-enhanced and fluid attenuated inversion recovery images. 61
32033580 2020

Variations for Ovarian Dysgenesis 3

ClinVar genetic disease variations for Ovarian Dysgenesis 3:

6 (showing 5, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MLX , PSMC3IP NM_198204.2(MLX):c.*1418_*1420CCT[1] Microsatellite Pathogenic 30741 GRCh37: 17:40725038-40725040
GRCh38: 17:42573020-42573022
2 MLX , PSMC3IP NM_016556.4(PSMC3IP):c.614del (p.Glu205fs) Deletion Pathogenic 812136 rs1597722169 GRCh37: 17:40725026-40725026
GRCh38: 17:42573008-42573008
3 PSMC3IP NM_016556.4(PSMC3IP):c.34+1G>A SNV Pathogenic 1033827 GRCh37: 17:40729670-40729670
GRCh38: 17:42577652-42577652
4 PSMC3IP NM_016556.4(PSMC3IP):c.-35C>T SNV Uncertain significance 801407 rs369453385 GRCh37: 17:40729739-40729739
GRCh38: 17:42577721-42577721
5 NRXN1 NM_001330078.2(NRXN1):c.162G>A (p.Met54Ile) SNV Likely benign 375625 rs1057519409 GRCh37: 2:51255250-51255250
GRCh38: 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

Cellular components related to Ovarian Dysgenesis 3 according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 nuclear membrane GO:0031965 8.62 NRXN1 MLX

Sources for Ovarian Dysgenesis 3

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
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