MCID: OVR102
MIFTS: 17

Ovarian Dysgenesis 3

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

Aliases & Classifications for Ovarian Dysgenesis 3

MalaCards integrated aliases for Ovarian Dysgenesis 3:

Name: Ovarian Dysgenesis 3 57 75 29 13 6 73
Odg3 57 75
Dysgenesis, Ovarian, Type 3 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
ovarian dysgenesis 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 614324
MedGen 42 C3280471
MeSH 44 D023961
SNOMED-CT via HPO 69 258211005 8913004
UMLS 73 C3280471

Summaries for Ovarian Dysgenesis 3

UniProtKB/Swiss-Prot : 75 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

Description from OMIM: 614324

Related Diseases for Ovarian Dysgenesis 3

Symptoms & Phenotypes for Ovarian Dysgenesis 3

Symptoms via clinical synopsis from OMIM:

57
Chest Breasts:
breasts underdeveloped

Genitourinary Internal Genitalia Female:
ovarian dysgenesis
uterine hypoplasia

Genitourinary External Genitalia Female:
pubic hair underdeveloped

Endocrine Features:
primary amenorrhea
luteinizing hormone levels elevated
follicle-stimulating hormone levels elevated
estradiol undetectable
progesterone undetectable
more

Clinical features from OMIM:

614324

Human phenotypes related to Ovarian Dysgenesis 3:

32
# Description HPO Frequency HPO Source Accession
1 primary amenorrhea 32 HP:0000786

MGI Mouse Phenotypes related to Ovarian Dysgenesis 3:

46
# 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 29 PSMC3IP

Anatomical Context for Ovarian Dysgenesis 3

Publications for Ovarian Dysgenesis 3

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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