MCID: OVR115
MIFTS: 18

Ovarian Dysgenesis 5

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

Aliases & Classifications for Ovarian Dysgenesis 5

MalaCards integrated aliases for Ovarian Dysgenesis 5:

Name: Ovarian Dysgenesis 5 57 75 29 6
Odg5 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


Classifications:



External Ids:

OMIM 57 617690
MeSH 44 D023961

Summaries for Ovarian Dysgenesis 5

UniProtKB/Swiss-Prot : 75 Ovarian dysgenesis 5: A disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads. ODG5 is an autosomal recessive condition.

MalaCards based summary : Ovarian Dysgenesis 5, also known as odg5, is related to epilepsy, nocturnal frontal lobe, 5. An important gene associated with Ovarian Dysgenesis 5 is SOHLH1 (Spermatogenesis And Oogenesis Specific Basic Helix-Loop-Helix 1). Affiliated tissues include uterus, ovary and bone.

Description from OMIM: 617690

Related Diseases for Ovarian Dysgenesis 5

Diseases in the Ovarian Dysgenesis 2 family:

Ovarian Dysgenesis 1 Ovarian Dysgenesis 3
Ovarian Dysgenesis 4 Ovarian Dysgenesis 5

Diseases related to Ovarian Dysgenesis 5 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 epilepsy, nocturnal frontal lobe, 5 9.0 KCNT1 SOHLH1

Symptoms & Phenotypes for Ovarian Dysgenesis 5

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
short stature (5th to 10th percentile)

Genitourinary Internal Genitalia Female:
primary amenorrhea
hypoplastic or absent ovaries
small uterus (prepubertal or infantile)

Endocrine Features:
elevated follicle-stimulating hormone (fsh) levels
elevated luteinizing hormone (lh) levels
reduced estradiol (e2) levels
reduced progesterone level

Chest Breasts:
absent thelarche

Skeletal:
delayed bone age


Clinical features from OMIM:

617690

Drugs & Therapeutics for Ovarian Dysgenesis 5

Search Clinical Trials , NIH Clinical Center for Ovarian Dysgenesis 5

Genetic Tests for Ovarian Dysgenesis 5

Genetic tests related to Ovarian Dysgenesis 5:

# Genetic test Affiliating Genes
1 Ovarian Dysgenesis 5 29

Anatomical Context for Ovarian Dysgenesis 5

MalaCards organs/tissues related to Ovarian Dysgenesis 5:

41
Uterus, Ovary, Bone

Publications for Ovarian Dysgenesis 5

Variations for Ovarian Dysgenesis 5

ClinVar genetic disease variations for Ovarian Dysgenesis 5:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SOHLH1 NM_001012415.2(SOHLH1): c.705delT (p.Lys236Argfs) deletion Likely pathogenic rs864309645 GRCh37 Chromosome 9, 138587066: 138587066
2 SOHLH1 NM_001012415.2(SOHLH1): c.705delT (p.Lys236Argfs) deletion Likely pathogenic rs864309645 GRCh38 Chromosome 9, 135695220: 135695220
3 SOHLH1 NM_001012415.2(SOHLH1): c.27C> G (p.Tyr9Ter) single nucleotide variant Likely pathogenic rs864309646 GRCh38 Chromosome 9, 135699441: 135699441
4 SOHLH1 NM_001012415.2(SOHLH1): c.27C> G (p.Tyr9Ter) single nucleotide variant Likely pathogenic rs864309646 GRCh37 Chromosome 9, 138591287: 138591287

Expression for Ovarian Dysgenesis 5

Search GEO for disease gene expression data for Ovarian Dysgenesis 5.

Pathways for Ovarian Dysgenesis 5

GO Terms for Ovarian Dysgenesis 5

Sources for Ovarian Dysgenesis 5

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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